Genetic Distance (cM) Physical Distance (bp) LOD score Chr Start End Ref Alt MutType Func.Sum cDNA_change AA_change AA_property_before_change AA_property_after_change Human_symbol Mouse_symbol Ensemble ID Approved Name Genomic Coordinate Function Description Human Disease KO Mouse Phenotype Pathway Biological Process Cellular Component Molecular Function GeneCards UniprotKB HPO OMIM MGI PubMed avsnp147 1000g_MAF esp6500_MAF exac03_MAF noxious_ratio pred_noxious pred_covered Func.refGene Func.knownGene Func.ensGene Gene.refGene Gene.knownGene Gene.ensGene ExonicFunc.refGene ExonicFunc.knownGene ExonicFunc.ensGene AAChange.refGene AAChange.knownGene AAChange.ensGene 302_Male_Control Quality;R|A_302_Male_Control 401_Male_Control Quality;R|A_401_Male_Control 402_Male_Patient Quality;R|A_402_Male_Patient N N - 10 100193515 100193515 G A snp intronic HPS1 Hps1 ENSG00000107521 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 chr10:100175955-100206684 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. RAB GEFs exchange GTP for GDP on RABs GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS1 https://www.uniprot.org/uniprot/Q92902 https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604982 http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1 rs11591555 0.124201 0 0 1 0 0 intronic intronic intronic HPS1 HPS1 ENSG00000107521 Na Na Na Na Na Na Het;G>A 199;4|7 Ref Hom;G>A 114;0|4 N N - 10 100193526 100193526 A C snp intronic HPS1 Hps1 ENSG00000107521 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 chr10:100175955-100206684 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. RAB GEFs exchange GTP for GDP on RABs GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS1 https://www.uniprot.org/uniprot/Q92902 https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604982 http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1 rs11595763 0.124201 0 0 1 0 0 intronic intronic intronic HPS1 HPS1 ENSG00000107521 Na Na Na Na Na Na Het;A>C 236;5|8 Ref Hom;A>C 141;0|4 N N - 10 100193557 100193557 T C snp intronic HPS1 Hps1 ENSG00000107521 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 chr10:100175955-100206684 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. RAB GEFs exchange GTP for GDP on RABs GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS1 https://www.uniprot.org/uniprot/Q92902 https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604982 http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1 rs11593787 0.124201 0 0 1 0 0 intronic intronic intronic HPS1 HPS1 ENSG00000107521 Na Na Na Na Na Na Het;T>C 398;6|13 Ref Hom;T>C 294;0|8 N N - 10 100193883 100193883 C T snp intronic HPS1 Hps1 ENSG00000107521 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 chr10:100175955-100206684 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. RAB GEFs exchange GTP for GDP on RABs GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS1 https://www.uniprot.org/uniprot/Q92902 https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604982 http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1 rs11591594 0.124002 0.1135 0.1713 1 0 0 intronic intronic intronic HPS1 HPS1 ENSG00000107521 Na Na Na Na Na Na Het;C>T 460;30|21 Ref Hom;C>T 1126;0|41 N N - 10 100193958 100193958 A G snp intronic HPS1 Hps1 ENSG00000107521 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 chr10:100175955-100206684 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. RAB GEFs exchange GTP for GDP on RABs GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS1 https://www.uniprot.org/uniprot/Q92902 https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604982 http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1 rs10748731 0.324681 0 0 1 0 0 intronic intronic intronic HPS1 HPS1 ENSG00000107521 Na Na Na Na Na Na Het;A>G 110;7|5 Ref Hom;A>G 80;0|3 N N - 10 100195583 100195583 T A snp intronic HPS1 Hps1 ENSG00000107521 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 chr10:100175955-100206684 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles. RAB GEFs exchange GTP for GDP on RABs GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS1 https://www.uniprot.org/uniprot/Q92902 https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604982 http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1 rs2296430 0.348642 0 0 1 0 0 intronic intronic intronic HPS1 HPS1 ENSG00000107521 Na Na Na Na Na Na Het;T>A 625;21|22 Ref Hom;T>A 1135;0|37 N N - 10 100991971 100991975 TACAC T indel intronic HPSE2 Hpse2 ENSG00000172987 heparanase 2 (inactive) chr10:100218875-100995619 This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Tobacco Use Disorder; Alzheimer's disease Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age. HS-GAG degradation GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HPSE2 https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613469 http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2 rs566756065 0.51857 0 0 1 0 0 intronic intronic intronic HPSE2 HPSE2 ENSG00000172987 Na Na Na Na Na Na Het;-ACAC 338;1|8 Ref Hom;-ACAC 222;0|5 N N - 10 100991976 100991976 A G snp intronic HPSE2 Hpse2 ENSG00000172987 heparanase 2 (inactive) chr10:100218875-100995619 This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Tobacco Use Disorder; Alzheimer's disease Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age. HS-GAG degradation GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HPSE2 https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613469 http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2 rs564424645 0.51857 0 0 1 0 0 intronic intronic intronic HPSE2 HPSE2 ENSG00000172987 Na Na Na Na Na Na Het;A>G 347;1|9 Ref Hom;A>G 231;0|5 N N - 10 100991979 100991979 C T snp intronic HPSE2 Hpse2 ENSG00000172987 heparanase 2 (inactive) chr10:100218875-100995619 This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Tobacco Use Disorder; Alzheimer's disease Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age. HS-GAG degradation GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HPSE2 https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613469 http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2 rs549955240 0.51857 0 0 1 0 0 intronic intronic intronic HPSE2 HPSE2 ENSG00000172987 Na Na Na Na Na Na Het;C>T 380;1|10 Ref Hom;C>T 231;0|6 N N - 10 101042213 101042213 T C snp intergenic HPSE2 Hpse2 ENSG00000172987 heparanase 2 (inactive) chr10:100218875-100995619 This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Tobacco Use Disorder; Alzheimer's disease Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age. HS-GAG degradation GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HPSE2 https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613469 http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2 rs4313503 0.459265 0 0 1 0 0 intergenic intergenic intergenic HPSE2(dist=46581),CNNM1(dist=46643) HPSE2(dist=46581),CNNM1(dist=46643) ENSG00000172987(dist=46594),ENSG00000119946(dist=46643) Na Na Na Na Na Na Het;T>C 582;21|23 Ref Hom;T>C 1095;0|41 N N - 10 101120787 101120787 C T snp intronic CNNM1 Cnnm1 ENSG00000119946 cyclin and CBS domain divalent metal cation transport mediator 1 chr10:101088856-101154087 This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Platelet Count; Alzheimer's disease ; Stroke; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNNM1 https://www.uniprot.org/uniprot/Q9NRU3 https://www.ncbi.nlm.nih.gov/omim/?term=607802 http://www.informatics.jax.org/searchtool/Search.do?query=CNNM1&submit=Quick%0D%5143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNNM1 rs3763792 0.422125 0 0 1 0 0 intronic intronic intronic CNNM1 CNNM1 ENSG00000119946 Na Na Na Na Na Na Het;C>T 917;43|40 Ref Hom;C>T 1929;2|70 N N - 10 102089174 102089174 C A snp intronic PKD2L1 Pkd2l1 ENSG00000107593 polycystin 2 like 1, transient receptor potential cation channel chr10:102047903-102090243 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Phospholipids; Metabolism; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070207;protein homotrimerization;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071805;potassium ion transmembrane transport;IDA GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IMP|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;NAS|GO:0034703;cation channel complex;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005227;calcium activated cation channel activity;IDA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0005272;sodium channel activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0033040;sour taste receptor activity;IEA|GO:0042802;identical protein binding;IEA|GO:0051371;muscle alpha-actinin binding;IPI|GO:0051393;alpha-actinin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD2L1 https://www.uniprot.org/uniprot/Q9P0L9 https://www.ncbi.nlm.nih.gov/omim/?term=604532 http://www.informatics.jax.org/searchtool/Search.do?query=PKD2L1&submit=Quick%0D%3619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD2L1 rs574122 0.148163 0 0 1 0 0 intronic intronic intronic PKD2L1 PKD2L1 ENSG00000107593 Na Na Na Na Na Na Het;C>A 776;19|28 Ref Hom;C>A 825;0|25 N N - 10 102089663 102089663 C T snp nonsynonymous SNV G35A C12Y polar,hydrophobic,neutral aromatic,polar,hydrophobic PKD2L1 Pkd2l1 ENSG00000107593 polycystin 2 like 1, transient receptor potential cation channel chr10:102047903-102090243 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Phospholipids; Metabolism; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070207;protein homotrimerization;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071805;potassium ion transmembrane transport;IDA GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IMP|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;NAS|GO:0034703;cation channel complex;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005227;calcium activated cation channel activity;IDA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0005272;sodium channel activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0033040;sour taste receptor activity;IEA|GO:0042802;identical protein binding;IEA|GO:0051371;muscle alpha-actinin binding;IPI|GO:0051393;alpha-actinin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD2L1 https://www.uniprot.org/uniprot/Q9P0L9 https://www.ncbi.nlm.nih.gov/omim/?term=604532 http://www.informatics.jax.org/searchtool/Search.do?query=PKD2L1&submit=Quick%0D%3619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD2L1 rs569511 0.136781 0.1253 0.1438 1 0 0 exonic exonic exonic PKD2L1 PKD2L1 ENSG00000107593 nonsynonymous SNV nonsynonymous SNV unknown PKD2L1:NM_001253837:exon1:c.G35A:p.C12Y, PKD2L1:uc009xwm.1:exon1:c.G35A:p.C12Y, UNKNOWN Het;C>T 1291;86|61 Ref Hom;C>T 1982;1|75 N N - 10 102495521 102495521 A G snp intronic PAX2 Pax2 ENSG00000075891 paired box 2 chr10:102495360-102589698 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014] isolated colobomas or colobomas associated; Henoch-Schonlein purpura nephritis; kidney size, newborn; Alzheimer's disease ; Alzheimer's Disease; Vesico-Ureteral Reflux Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney. GO:0001655;urogenital system development;ISS|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001709;cell fate determination;ISS|GO:0001823;mesonephros development;ISS|GO:0001843;neural tube closure;ISS|GO:0002072;optic cup morphogenesis involved in camera-type eye development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0003406;retinal pigment epithelium development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;TAS|GO:0007501;mesodermal cell fate specification;ISS|GO:0007568;aging;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010001;glial cell differentiation;ISS|GO:0021554;optic nerve development;ISS|GO:0021631;optic nerve morphogenesis;ISS|GO:0021633;optic nerve structural organization;ISS|GO:0021650;vestibulocochlear nerve formation;ISS|GO:0030154;cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035566;regulation of metanephros size;IMP|GO:0035799;ureter maturation;ISS|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0043010;camera-type eye development;ISS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043069;negative regulation of programmed cell death;ISS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043491;protein kinase B signaling;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045918;negative regulation of cytolysis;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048513;animal organ development;IEA|GO:0048793;pronephros development;ISS|GO:0048854;brain morphogenesis;ISS|GO:0048863;stem cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060231;mesenchymal to epithelial transition;ISS|GO:0061360;optic chiasma development;ISS|GO:0070301;cellular response to hydrogen peroxide;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0071333;cellular response to glucose stimulus;ISS|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0072075;metanephric mesenchyme development;ISS|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072179;nephric duct formation;ISS|GO:0072189;ureter development;ISS|GO:0072205;metanephric collecting duct development;ISS|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072300;positive regulation of metanephric glomerulus development;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0072593;reactive oxygen species metabolic process;ISS|GO:0090102;cochlea development;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000378;negative regulation of reactive oxygen species metabolic process;IDA|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000597;positive regulation of optic nerve formation;ISS GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IDA|GO:0032993;protein-DNA complex;ISS|GO:0034451;centriolar satellite;IDA|GO:0043234;protein complex;ISS GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016175;superoxide-generating NADPH oxidase activity;ISS|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAX2 https://www.uniprot.org/uniprot/Q02962 https://hpo.jax.org/app/browse/search?q=PAX2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=167409 http://www.informatics.jax.org/searchtool/Search.do?query=PAX2&submit=Quick%0D%1567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX2 rs4919486 0.85024 0 0 1 0 0 intronic intergenic intergenic PAX2 HIF1AN(dist=181840),PAX2(dist=9947) ENSG00000166135(dist=175766),ENSG00000075891(dist=9947) Na Na Na Na Na Na Het;A>G 82;5|5 Het;A>G 73;3|3 Hom;A>G 410;0|15 N N - 10 102505815 102505815 A G snp UTR5 -203A>G PAX2 Pax2 ENSG00000075891 paired box 2 chr10:102495360-102589698 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014] isolated colobomas or colobomas associated; Henoch-Schonlein purpura nephritis; kidney size, newborn; Alzheimer's disease ; Alzheimer's Disease; Vesico-Ureteral Reflux Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney. GO:0001655;urogenital system development;ISS|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001709;cell fate determination;ISS|GO:0001823;mesonephros development;ISS|GO:0001843;neural tube closure;ISS|GO:0002072;optic cup morphogenesis involved in camera-type eye development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0003406;retinal pigment epithelium development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;TAS|GO:0007501;mesodermal cell fate specification;ISS|GO:0007568;aging;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010001;glial cell differentiation;ISS|GO:0021554;optic nerve development;ISS|GO:0021631;optic nerve morphogenesis;ISS|GO:0021633;optic nerve structural organization;ISS|GO:0021650;vestibulocochlear nerve formation;ISS|GO:0030154;cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035566;regulation of metanephros size;IMP|GO:0035799;ureter maturation;ISS|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0043010;camera-type eye development;ISS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043069;negative regulation of programmed cell death;ISS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043491;protein kinase B signaling;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045918;negative regulation of cytolysis;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048513;animal organ development;IEA|GO:0048793;pronephros development;ISS|GO:0048854;brain morphogenesis;ISS|GO:0048863;stem cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060231;mesenchymal to epithelial transition;ISS|GO:0061360;optic chiasma development;ISS|GO:0070301;cellular response to hydrogen peroxide;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0071333;cellular response to glucose stimulus;ISS|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0072075;metanephric mesenchyme development;ISS|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072179;nephric duct formation;ISS|GO:0072189;ureter development;ISS|GO:0072205;metanephric collecting duct development;ISS|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072300;positive regulation of metanephric glomerulus development;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0072593;reactive oxygen species metabolic process;ISS|GO:0090102;cochlea development;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000378;negative regulation of reactive oxygen species metabolic process;IDA|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000597;positive regulation of optic nerve formation;ISS GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IDA|GO:0032993;protein-DNA complex;ISS|GO:0034451;centriolar satellite;IDA|GO:0043234;protein complex;ISS GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016175;superoxide-generating NADPH oxidase activity;ISS|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAX2 https://www.uniprot.org/uniprot/Q02962 https://hpo.jax.org/app/browse/search?q=PAX2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=167409 http://www.informatics.jax.org/searchtool/Search.do?query=PAX2&submit=Quick%0D%1567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX2 rs11190680 0.849641 0 0 1 0 0 UTR5 UTR5 UTR5 PAX2(NM_003990:c.-203A>G,NM_003989:c.-203A>G,NM_000278:c.-203A>G,NM_003987:c.-203A>G,NM_003988:c.-203A>G) PAX2(uc001krk.4:c.-203A>G,uc001krl.4:c.-203A>G,uc001krm.4:c.-203A>G,uc001krn.4:c.-203A>G,uc001kro.4:c.-203A>G,uc010qps.2:c.-203A>G) ENSG00000075891(ENST00000370296:c.-203A>G,ENST00000428433:c.-203A>G,ENST00000355243:c.-203A>G,ENST00000361791:c.-203A>G) Na Na Na Na Na Na Het;A>G 192;7|7 Het;A>G 135;2|5 Hom;A>G 347;0|12 N N - 10 102506070 102506070 G C snp intronic PAX2 Pax2 ENSG00000075891 paired box 2 chr10:102495360-102589698 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014] isolated colobomas or colobomas associated; Henoch-Schonlein purpura nephritis; kidney size, newborn; Alzheimer's disease ; Alzheimer's Disease; Vesico-Ureteral Reflux Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney. GO:0001655;urogenital system development;ISS|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001709;cell fate determination;ISS|GO:0001823;mesonephros development;ISS|GO:0001843;neural tube closure;ISS|GO:0002072;optic cup morphogenesis involved in camera-type eye development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0003406;retinal pigment epithelium development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;TAS|GO:0007501;mesodermal cell fate specification;ISS|GO:0007568;aging;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010001;glial cell differentiation;ISS|GO:0021554;optic nerve development;ISS|GO:0021631;optic nerve morphogenesis;ISS|GO:0021633;optic nerve structural organization;ISS|GO:0021650;vestibulocochlear nerve formation;ISS|GO:0030154;cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035566;regulation of metanephros size;IMP|GO:0035799;ureter maturation;ISS|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0043010;camera-type eye development;ISS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043069;negative regulation of programmed cell death;ISS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043491;protein kinase B signaling;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045918;negative regulation of cytolysis;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048513;animal organ development;IEA|GO:0048793;pronephros development;ISS|GO:0048854;brain morphogenesis;ISS|GO:0048863;stem cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060231;mesenchymal to epithelial transition;ISS|GO:0061360;optic chiasma development;ISS|GO:0070301;cellular response to hydrogen peroxide;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0071333;cellular response to glucose stimulus;ISS|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0072075;metanephric mesenchyme development;ISS|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072179;nephric duct formation;ISS|GO:0072189;ureter development;ISS|GO:0072205;metanephric collecting duct development;ISS|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072300;positive regulation of metanephric glomerulus development;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0072593;reactive oxygen species metabolic process;ISS|GO:0090102;cochlea development;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000378;negative regulation of reactive oxygen species metabolic process;IDA|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000597;positive regulation of optic nerve formation;ISS GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IDA|GO:0032993;protein-DNA complex;ISS|GO:0034451;centriolar satellite;IDA|GO:0043234;protein complex;ISS GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016175;superoxide-generating NADPH oxidase activity;ISS|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAX2 https://www.uniprot.org/uniprot/Q02962 https://hpo.jax.org/app/browse/search?q=PAX2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=167409 http://www.informatics.jax.org/searchtool/Search.do?query=PAX2&submit=Quick%0D%1567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX2 rs4472867 0.846645 0.7750 0.8365 1 0 0 intronic intronic intronic PAX2 PAX2 ENSG00000075891 Na Na Na Na Na Na Het;G>C 2906;116|131 Het;G>C 2405;107|109 Hom;G>C 6686;0|250 N N - 10 102673063 102673063 G T snp UTR3 *4G>T SLF2 Fam178a rs3802725 0.254393 0 0.4761 1 0 0 UTR3 UTR3 UTR3 FAM178A(NM_001243770:c.*4G>T) FAM178A(uc001krq.4:c.*4G>T) ENSG00000119906(ENST00000609386:c.*4G>T) Na Na Na Na Na Na Het;G>T 421;41|25 Het;G>T 500;40|27 Hom;G>T 1207;0|47 N N - 10 102689217 102689217 T C snp intronic FAM178A rs2273654 0.261382 0.3483 0.3904 1 0 0 intronic intronic intronic FAM178A FAM178A ENSG00000119906 Na Na Na Na Na Na Het;T>C 534;19|21 Het;T>C 907;26|39 Hom;T>C 1639;0|60 N N - 10 102744331 102744331 A T snp nonsynonymous SNV A1790T D597V polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral SEMA4G Sema4g ENSG00000095539 semaphorin 4G chr10:102729275-102745628 Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms Mice homozygous for a targeted allele exhibit normal cerebellar morphology. GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEMA4G https://www.uniprot.org/uniprot/Q9NTN9 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4G&submit=Quick%0D%2249ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4G rs11591349 0.255591 0 0.4047 0.17 2 12 exonic exonic exonic SEMA4G SEMA4G ENSG00000095539 nonsynonymous SNV nonsynonymous SNV unknown SEMA4G:NM_001203244:exon14:c.A1790T:p.D597V, SEMA4G:uc001krx.3:exon14:c.A1790T:p.D597V, UNKNOWN Het;A>T 1451;76|66 Het;A>T 1340;53|58 Hom;A>T 2396;0|91 N N - 10 102746231 102746231 C T snp UTR3 *146G>A MRPL43 Mrpl43 ENSG00000055950 mitochondrial ribosomal protein L43 chr10:102729215-102747272 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease Mitochondrial translation termination GO:0006412;translation;NAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MRPL43 https://www.uniprot.org/uniprot/Q8N983 https://www.ncbi.nlm.nih.gov/omim/?term=611848 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL43&submit=Quick%0D%1002ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL43 rs7184 0.251797 0 0 1 0 0 UTR3 UTR3 UTR3 MRPL43(NM_032112:c.*260G>A) MRPL43(uc001ksc.3:c.*69G>A,uc001ksd.1:c.*260G>A) ENSG00000055950(ENST00000370236:c.*146G>A,ENST00000477279:c.*498G>A,ENST00000318364:c.*260G>A,ENST00000370234:c.*69G>A) Na Na Na Na Na Na Het;C>T 687;25|31 Het;C>T 464;33|23 Hom;C>T 1861;0|69 N N - 10 102762256 102762256 C T snp UTR5 -40C>T LZTS2 Lzts2 ENSG00000107816 leucine zipper tumor suppressor 2 chr10:102756375-102767593 The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease ; Alcoholism; breast cancer Mice homozygous for a null mutation display defects in urinary tract development. GO:0001822;kidney development;IEA|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0051301;cell division;IEA|GO:0072001;renal system development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:1900181;negative regulation of protein localization to nucleus;IEA GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0031982;vesicle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LZTS2 https://www.uniprot.org/uniprot/Q9BRK4 https://www.ncbi.nlm.nih.gov/omim/?term=610454 http://www.informatics.jax.org/searchtool/Search.do?query=LZTS2&submit=Quick%0D%3641ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTS2 rs752974 0.27496 0.3637 0.4300 1 0 0 UTR5 UTR5 UTR5 LZTS2(NM_032429:c.-40C>T) LZTS2(uc001ksj.3:c.-40C>T,uc010qpw.2:c.-40C>T,uc001ksk.3:c.-40C>T,uc001ksl.3:c.-40C>T) ENSG00000107816(ENST00000426584:c.-40C>T,ENST00000370223:c.-40C>T,ENST00000429732:c.-40C>T,ENST00000481129:c.-40C>T,ENST00000370220:c.-40C>T,ENST00000454422:c.-40C>T) Na Na Na Na Na Na Het;C>T 347;22|17 Het;C>T 429;18|21 Hom;C>T 622;0|21 N N - 10 102770293 102770293 T TGCTGCG indel nonframeshift substitution 2353_2353delinsCGCAGCA PDZD7 Pdzd7 ENSG00000186862 PDZ domain containing 7 chr10:102767440-102790890 This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] Alcoholism Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function. GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZD7 https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612971 http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7 rs200896335 0.246805 0 0.3828 1 0 0 exonic exonic UTR3 PDZD7 PDZD7 ENSG00000186862(ENST00000474125:c.*2300A>CGCAGCA) nonframeshift substitution nonframeshift substitution Na PDZD7:NM_001195263:exon15:c.2353_2353delinsCGCAGCA, PDZD7:uc021pxc.1:exon15:c.2353_2353delinsCGCAGCA, Na Het;+GCTGCG 2253;58|61 Het;+GCTGCG 1378;32|36 Hom;+GCTGCG 2263;4|87 N N - 10 10305616 10305616 A G snp intergenic LOC101928298 rs10905701 0.809105 0 0 1 0 0 intergenic intergenic intergenic LOC101928298(dist=200151),LOC101928322(dist=155885) BC032914(dist=200151),SFTA1P(dist=520786) ENSG00000272436(dist=6187),ENSG00000234306(dist=101527) Na Na Na Na Na Na Het;A>G 638;20|27 Het;A>G 585;11|25 Hom;A>G 1316;0|44 N N - 10 10305641 10305641 T C snp intergenic LOC101928298 rs10905702 0.811102 0 0 1 0 0 intergenic intergenic intergenic LOC101928298(dist=200176),LOC101928322(dist=155860) BC032914(dist=200176),SFTA1P(dist=520761) ENSG00000272436(dist=6212),ENSG00000234306(dist=101502) Na Na Na Na Na Na Het;T>C 471;12|16 Het;T>C 407;7|14 Hom;T>C 993;0|25 N N - 10 103356411 103356411 C G snp intronic DPCD Dpcd ENSG00000166171 deleted in primary ciliary dyskinesia homolog (mouse) chr10:103330317-103369425 This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016] Alzheimer's disease GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA GO:0005634;nucleus;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DPCD https://www.ncbi.nlm.nih.gov/omim/?term=616467 http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD rs12784408 0.246406 0 0 1 0 0 intronic intronic intronic DPCD DPCD ENSG00000166171 Na Na Na Na Na Na Het;C>G 1198;71|57 Ref Hom;C>G 2958;2|117 N N - 10 103560321 103560321 T C snp intronic MGEA5 Mgea5 ENSG00000198408 meningioma expressed antigen 5 (hyaluronidase) chr10:103544200-103578696 The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008] Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2 Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability. GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006493;protein O-linked glycosylation;NAS|GO:0006516;glycoprotein catabolic process;TAS|GO:0006517;protein deglycosylation;IDA|GO:0008152;metabolic process;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA GO:0004415;hyalurononglucosaminidase activity;TAS|GO:0016231;beta-N-acetylglucosaminidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0102166;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102167;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102571;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGEA5 https://www.ncbi.nlm.nih.gov/omim/?term=604039 http://www.informatics.jax.org/searchtool/Search.do?query=MGEA5&submit=Quick%0D%16888ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGEA5 rs2305192 0.221446 0 0 1 0 0 intronic intronic intronic MGEA5 MGEA5 ENSG00000198408 Na Na Na Na Na Na Het;T>C 226;3|7 Ref Hom;T>C 103;0|3 N N - 10 103877774 103877774 C G snp intronic LDB1 Ldb1 ENSG00000198728 LIM domain binding 1 chr10:103867317-103880210 Alzheimer's disease Mice homozygous for disruptions in this gene die as embryos at E9.5-E10 with impaired primitive erythropoiesis and vascular development. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000972;transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery;ISS|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001942;hair follicle development;IEA|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0009948;anterior/posterior axis specification;IEA|GO:0010669;epithelial structure maintenance;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021549;cerebellum development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0022607;cellular component assembly;IEA|GO:0030182;neuron differentiation;ISS|GO:0030334;regulation of cell migration;ISS|GO:0032784;regulation of DNA-templated transcription, elongation;ISS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0043549;regulation of kinase activity;ISS|GO:0043973;histone H3-K4 acetylation;ISS|GO:0045647;negative regulation of erythrocyte differentiation;ISS|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;ISS|GO:0051893;regulation of focal adhesion assembly;ISS|GO:0060322;head development;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IDA|GO:0031252;cell leading edge;ISS|GO:0043234;protein complex;ISS GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0030274;LIM domain binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0043621;protein self-association;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDB1 https://www.ncbi.nlm.nih.gov/omim/?term=603451 http://www.informatics.jax.org/searchtool/Search.do?query=LDB1&submit=Quick%0D%16978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDB1 rs35366855 0.0411342 0 0 1 0 0 intronic intronic intronic LDB1 LDB1 ENSG00000198728 Na Na Na Na Na Na Het;C>G 53;2|4 Ref Hom;C>G 71;0|4 N N - 10 105233110 105233110 C T snp nonsynonymous SNV G895A D299N polar,hydrophilic,charged(-) polar,hydrophilic,neutral CALHM3 ENSG00000183128 calcium homeostasis modulator 3 chr10:105232561-105238997 Alzheimer's disease ; Alzheimer's disease Mice homozygous for a knock-out allele exhibit impaired voltage-activated nonselective currents, avoidance of bitter and salty taste, and loss of preference for sweet and unami. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005261;cation channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CALHM3 http://www.informatics.jax.org/searchtool/Search.do?query=CALHM3&submit=Quick%0D%14926ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALHM3 rs2986035 0.740216 0 0.7652 0.15 2 13 exonic exonic exonic CALHM3 CALHM3 ENSG00000183128 nonsynonymous SNV nonsynonymous SNV unknown CALHM3:NM_001129742:exon3:c.G895A:p.D299N, CALHM3:uc001kxg.4:exon3:c.G895A:p.D299N, UNKNOWN Het;C>T 1697;63|70 Het;C>T 1437;32|64 Hom;C>T 2547;0|89 N N - 10 105239263 105239263 T C snp upstream;downstream ENSG00000183128 rs1555823 0.771965 0 0 1 0 0 upstream;downstream upstream upstream;downstream CALHM3;NEURL1-AS1 CALHM3 ENSG00000183128;ENSG00000235470 Na Na Na Na Na Na Het;T>C 170;1|6 Het;T>C 236;2|7 Hom;T>C 135;0|4 N N - 10 105239509 105239509 G C snp ncRNA_exonic NEURL1-AS1 rs3014191 0.771965 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic NEURL1-AS1 CALHM3 ENSG00000235470 Na Na Na Na Na Na Het;G>C 2727;148|118 Het;G>C 2199;105|100 Hom;G>C 5748;0|209 N N - 10 105271758 105271758 A G snp ncRNA_exonic NEURL1-AS1 rs2281859 0.602636 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic NEURL1-AS1 NEURL ENSG00000235470 Na Na Na Na Na Na Het;A>G 2396;81|101 Ref Hom;A>G 3921;0|136 N N - 10 105271890 105271890 T C snp ncRNA_exonic NEURL1-AS1 rs2281858 0.5625 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic NEURL1-AS1 NEURL ENSG00000235470 Na Na Na Na Na Na Het;T>C 1699;92|78 Ref Hom;T>C 5233;0|194 N N - 10 105272025 105272025 A G snp ncRNA_intronic NEURL1-AS1 rs2986059 0.559305 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic NEURL1-AS1 NEURL ENSG00000235470 Na Na Na Na Na Na Het;A>G 99;9|5 Ref Hom;A>G 564;0|16 N N - 10 105275242 105275242 T C snp ncRNA_intronic NEURL1-AS1 rs2860495 0.883387 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic NEURL1-AS1 NEURL ENSG00000235470 Na Na Na Na Na Na Het;T>C 399;15|14 Het;T>C 721;12|26 Hom;T>C 882;0|28 N N - 10 105758670 105758670 A G snp synonymous SNV A528G V176V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLK Slk ENSG00000065613 STE20 like kinase chr10:105726959-105788991 Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLK https://www.uniprot.org/uniprot/Q9H2G2 https://www.ncbi.nlm.nih.gov/omim/?term=616563 http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK rs10883960 0.167133 0.1982 0.2183 1 0 0 exonic exonic exonic SLK SLK ENSG00000065613 synonymous SNV synonymous SNV unknown SLK:NM_014720:exon5:c.A528G:p.V176V,SLK:NM_001304743:exon5:c.A528G:p.V176V, SLK:uc001kxo.1:exon5:c.A528G:p.V176V,SLK:uc001kxp.1:exon5:c.A528G:p.V176V, UNKNOWN Het;A>G 1327;54|59 Het;A>G 1251;46|55 Hom;A>G 3840;0|142 N N - 10 105763026 105763026 C T snp nonsynonymous SNV C2090T T697I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SLK Slk ENSG00000065613 STE20 like kinase chr10:105726959-105788991 Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLK https://www.uniprot.org/uniprot/Q9H2G2 https://www.ncbi.nlm.nih.gov/omim/?term=616563 http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK rs3740469 0.163938 0.1949 0.2161 0.38 5 13 exonic exonic exonic SLK SLK ENSG00000065613 nonsynonymous SNV nonsynonymous SNV unknown SLK:NM_014720:exon9:c.C2090T:p.T697I,SLK:NM_001304743:exon9:c.C2090T:p.T697I, SLK:uc001kxo.1:exon9:c.C2090T:p.T697I,SLK:uc001kxp.1:exon9:c.C2090T:p.T697I, UNKNOWN Het;C>T 1533;71|70 Het;C>T 1640;59|66 Hom;C>T 4522;0|159 N N - 10 105781596 105781598 CAT C indel intronic SLK Slk ENSG00000065613 STE20 like kinase chr10:105726959-105788991 Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLK https://www.uniprot.org/uniprot/Q9H2G2 https://www.ncbi.nlm.nih.gov/omim/?term=616563 http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK rs35403362 0.166134 0 0 1 0 0 intronic intronic intronic SLK SLK ENSG00000065613 Na Na Na Na Na Na Het;-AT 242;5|7 Het;-AT 290;7|9 Hom;-AT 413;0|10 N N - 10 105793750 105793750 T C snp nonsynonymous SNV A4109G D1370G polar,hydrophilic,charged(-) aliphatic,neutral COL17A1 Col17a1 ENSG00000065618 collagen type XVII alpha 1 chain chr10:105791044-105845760 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL17A1 https://www.uniprot.org/uniprot/Q9UMD9 https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=113811 http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1 rs17116350 0.258586 0.2903 0.2482 0.15 2 13 exonic exonic exonic COL17A1 COL17A1 ENSG00000065618 nonsynonymous SNV nonsynonymous SNV unknown COL17A1:NM_000494:exon52:c.A4109G:p.D1370G, COL17A1:uc001kxr.3:exon52:c.A4109G:p.D1370G, UNKNOWN Het;T>C 1496;68|64 Het;T>C 1446;60|63 Hom;T>C 2639;3|90 N N - 10 105809727 105809727 A G snp intronic COL17A1 Col17a1 ENSG00000065618 collagen type XVII alpha 1 chain chr10:105791044-105845760 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL17A1 https://www.uniprot.org/uniprot/Q9UMD9 https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=113811 http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1 rs34422866 0.0924521 0 0 1 0 0 intronic intronic intronic COL17A1 COL17A1 ENSG00000065618 Na Na Na Na Na Na Het;A>G 356;5|11 Het;A>G 144;6|5 Hom;A>G 228;0|7 N N - 10 105815116 105815116 A G snp intronic COL17A1 Col17a1 ENSG00000065618 collagen type XVII alpha 1 chain chr10:105791044-105845760 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL17A1 https://www.uniprot.org/uniprot/Q9UMD9 https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=113811 http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1 rs17821926 0.0996406 0.1174 0.1390 1 0 0 intronic intronic intronic COL17A1 COL17A1 ENSG00000065618 Na Na Na Na Na Na Het;A>G 438;24|20 Het;A>G 325;24|18 Hom;A>G 552;2|26 N N - 10 105905161 105905161 C T snp intronic CFAP43 Cfap43 ENSG00000197748 Cilia And Flagella Associated Protein 43 chr10:105889646-105992120 This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. http://www.genecards.org/index.php?path=/Search/keyword/CFAP43 https://www.uniprot.org/uniprot/Q8NDM7 https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617558 http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43 rs2289964 0.152157 0 0 1 0 0 intronic intronic intronic CFAP43 WDR96 ENSG00000197748 Na Na Na Na Na Na Het;C>T 166;5|7 Het;C>T 237;13|11 Hom;C>T 451;1|16 N N - 10 105957714 105957714 A G snp nonsynonymous SNV T1178C I393T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral WDR96 rs10883979 0.076877 0.0497 0.0640 0.00 0 13 exonic exonic exonic CFAP43 WDR96 ENSG00000197748 nonsynonymous SNV nonsynonymous SNV unknown CFAP43:NM_025145:exon9:c.T1178C:p.I393T, WDR96:uc001kxw.3:exon9:c.T1178C:p.I393T,WDR96:uc001kxx.4:exon9:c.T1181C:p.I394T,WDR96:uc001kxy.1:exon9:c.T1181C:p.I394T, UNKNOWN Het;A>G 2513;115|113 Ref Hom;A>G 6141;0|228 N N - 10 105963553 105963553 A G snp synonymous SNV T972C F324F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral CFAP43 Cfap43 ENSG00000197748 Cilia And Flagella Associated Protein 43 chr10:105889646-105992120 This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. http://www.genecards.org/index.php?path=/Search/keyword/CFAP43 https://www.uniprot.org/uniprot/Q8NDM7 https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617558 http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43 rs11191947 0.0766773 0.0492 0.0657 1 0 0 exonic exonic exonic CFAP43 WDR96 ENSG00000197748 synonymous SNV synonymous SNV unknown CFAP43:NM_025145:exon8:c.T972C:p.F324F, WDR96:uc001kxz.3:exon8:c.T975C:p.F325F,WDR96:uc001kxw.3:exon8:c.T972C:p.F324F,WDR96:uc001kxx.4:exon8:c.T975C:p.F325F,WDR96:uc001kxy.1:exon8:c.T975C:p.F325F, UNKNOWN Het;A>G 969;34|44 Ref Hom;A>G 3041;0|111 N N - 10 105973981 105973981 C G snp intronic CFAP43 Cfap43 ENSG00000197748 Cilia And Flagella Associated Protein 43 chr10:105889646-105992120 This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. http://www.genecards.org/index.php?path=/Search/keyword/CFAP43 https://www.uniprot.org/uniprot/Q8NDM7 https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617558 http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43 rs584082 0.203075 0.2250 0.2092 1 0 0 intronic intronic intronic CFAP43 WDR96 ENSG00000197748 Na Na Na Na Na Na Het;C>G 758;19|24 Ref Hom;C>G 1549;0|51 N N - 10 105985410 105985410 T C snp intronic CFAP43 Cfap43 ENSG00000197748 Cilia And Flagella Associated Protein 43 chr10:105889646-105992120 This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. http://www.genecards.org/index.php?path=/Search/keyword/CFAP43 https://www.uniprot.org/uniprot/Q8NDM7 https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617558 http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43 rs958118 0.076877 0 0 1 0 0 intronic intronic intronic CFAP43 WDR96 ENSG00000197748 Na Na Na Na Na Na Het;T>C 149;5|5 Ref Hom;T>C 328;0|11 N N - 10 105990647 105990647 C A snp intronic CFAP43 Cfap43 ENSG00000197748 Cilia And Flagella Associated Protein 43 chr10:105889646-105992120 This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. http://www.genecards.org/index.php?path=/Search/keyword/CFAP43 https://www.uniprot.org/uniprot/Q8NDM7 https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617558 http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43 rs11191960 0.0429313 0.0371 0.0712 1 0 0 intronic intronic intronic CFAP43 WDR96 ENSG00000197748 Na Na Na Na Na Na Het;C>A 262;14|12 Ref Hom;C>A 732;1|30 N N - 10 105992144 105992144 G A snp upstream WDR96 rs10883986 0.0766773 0 0 1 0 0 upstream upstream upstream CFAP43 WDR96 ENSG00000197748 Na Na Na Na Na Na Het;G>A 55;7|3 Ref Hom;G>A 161;0|5 N N - 10 106235467 106235467 T G snp ncRNA_intronic LOC101927523 rs280839 0.617412 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927523 CCDC147(dist=20619),SORCS3(dist=165392) ENSG00000225768 Na Na Na Na Na Na Het;T>G 252;8|10 Het;T>G 204;11|10 Hom;T>G 905;0|27 N N - 10 106398315 106398315 G A snp intergenic LOC101927523 rs998300 0.684704 0 0 1 0 0 intergenic intergenic intergenic LOC101927523(dist=158282),SORCS3(dist=2544) CCDC147(dist=183467),SORCS3(dist=2544) ENSG00000237761(dist=21584),ENSG00000156395(dist=2544) Na Na Na Na Na Na Het;G>A 106;8|6 Ref Hom;G>A 416;0|17 N N - 10 108562836 108562836 T C snp intronic SORCS1 Sorcs1 ENSG00000108018 sortilin related VPS10 domain containing receptor 1 chr10:108333421-108924292 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain. Insulin processing GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS1 https://www.uniprot.org/uniprot/Q8WY21 https://www.ncbi.nlm.nih.gov/omim/?term=606283 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1 rs12770952 0.234225 0 0 1 0 0 intronic intronic intronic SORCS1 SORCS1 ENSG00000108018 Na Na Na Na Na Na Het;T>C 367;22|16 Het;T>C 346;15|18 Hom;T>C 947;2|32 N N - 10 108974259 108974259 T C snp intergenic SORCS1 Sorcs1 ENSG00000108018 sortilin related VPS10 domain containing receptor 1 chr10:108333421-108924292 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain. Insulin processing GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS1 https://www.uniprot.org/uniprot/Q8WY21 https://www.ncbi.nlm.nih.gov/omim/?term=606283 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1 rs7098413 0.438498 0 0 1 0 0 intergenic intergenic intergenic SORCS1(dist=49793),LINC01435(dist=657076) SORCS1(dist=49793),7SK(dist=1726468) ENSG00000108018(dist=49967),ENSG00000200079(dist=247059) Na Na Na Na Na Na Het;T>C 899;22|33 Het;T>C 351;14|14 Hom;T>C 1342;0|42 N N - 10 109174443 109174443 T C snp intergenic SORCS1 Sorcs1 ENSG00000108018 sortilin related VPS10 domain containing receptor 1 chr10:108333421-108924292 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain. Insulin processing GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS1 https://www.uniprot.org/uniprot/Q8WY21 https://www.ncbi.nlm.nih.gov/omim/?term=606283 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1 rs35382548 0.262181 0 0 1 0 0 intergenic intergenic intergenic SORCS1(dist=249977),LINC01435(dist=456892) SORCS1(dist=249977),7SK(dist=1526284) ENSG00000108018(dist=250151),ENSG00000200079(dist=46875) Na Na Na Na Na Na Het;T>C 246;11|8 Het;T>C 530;11|15 Hom;T>C 570;1|16 N N - 10 109421460 109421460 C G snp intergenic SORCS1 Sorcs1 ENSG00000108018 sortilin related VPS10 domain containing receptor 1 chr10:108333421-108924292 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain. Insulin processing GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS1 https://www.uniprot.org/uniprot/Q8WY21 https://www.ncbi.nlm.nih.gov/omim/?term=606283 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1 rs7899618 0.208866 0 0 1 0 0 intergenic intergenic intergenic SORCS1(dist=496994),LINC01435(dist=209875) SORCS1(dist=496994),7SK(dist=1279267) ENSG00000200079(dist=200033),ENSG00000229981(dist=96131) Na Na Na Na Na Na Het;C>G 254;32|14 Het;C>G 335;31|18 Hom;C>G 1016;0|39 N N - 10 11140531 11140531 T C snp ncRNA_intronic CELF2-AS2 rs7099389 0.182109 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic CELF2-AS2 CELF2-AS2 ENSG00000048740 Na Na Na Na Na Na Het;T>C 496;18|18 Het;T>C 207;21|11 Hom;T>C 825;0|27 N N - 10 11290997 11290997 A C snp intronic CELF2 Celf2 ENSG00000048740 CUGBP Elav-like family member 2 chr10:11047259-11378674 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Lipids; Heart Failure; Glomerular Filtration Rate; Type 2 Diabetes| edema | rosiglitazone; Cystatins; Creatinine; Tobacco Use Disorder; E-Selectin; Alzheimer's disease ; Coronary Artery Disease; Narcolepsy Mice homozygous for a knock-out allele die neonatally and postnatally with reduced axon extension in DRG explants. GO:0006376;mRNA splice site selection;IEA|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008016;regulation of heart contraction;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CELF2 https://www.uniprot.org/uniprot/O95319 https://www.ncbi.nlm.nih.gov/omim/?term=602538 http://www.informatics.jax.org/searchtool/Search.do?query=CELF2&submit=Quick%0D%896ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CELF2 rs2653522 0.639776 0 0 1 0 0 intronic intronic intronic CELF2 CELF2 ENSG00000048740 Na Na Na Na Na Na Het;A>C 174;9|6 Het;A>C 37;4|2 Hom;A>C 358;0|10 N N - 10 112988554 112988554 G T snp intergenic ADRA2A Adra2a ENSG00000150594 adrenoceptor alpha 2A chr10:112836790-112840658 Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] attention deficit disorder conduct disorder oppositional defiant disorder; Irritable Bowel Syndrome; Sleep Apnea, Obstructive; suicide; depression; motion sickness; Tunica Media; attention deficit hyperactivity disorder; weight gain; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; von Willebrand factor levels; Hemorrhagic Disorders; Obesity, Morbid; Autism; Weight Gain; alcohol dependence smoking behavior; blood pressure; heart rate; body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone; Acute Coronary Syndrome; Metabolic Syndrome X; Bulimia; Hypertension; Attention Deficit Disorder with Hyperactivity; weight loss; ADHD | attention-deficit hyperactivity disorder; Glucose Transporter Type 2; left ventricular ejection fraction troponin, cardiac; BMI- Edema rosiglitazone or pioglitazone; temperament; idiopathic orthostatic intolerance; hypertension; Platelet Aggregation; body mass; Obesity|Overweight|Weight Loss; Colitis, Ulcerative|Irritable Bowel Syndrome; fasting glucose-related traits ; Liver Cirrhosis; Low Tension Glaucoma; blood pressure, arterial; blood pressure, arterial heart rate norepinephrine; Hypercholesterolemia|LDLC levels; Alzheimer's Disease; platelet function; Tourette syndrome; attention deficit hyperactivity disorder; reading disability; cortisol escape from dexamethasone and elevated glucose levels; response to antidepressants; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; obesity; hyperuicemia; alcohol consumption; depression; Parkinson's disease; schizophrenia; tardive dyskinesia; gastrointestinal disorders; ADHD; smoking; schizophrenia; suicide; Parkinson's disease; Adiposity and Abdominal Obesity; several psychiatric disorders; Type 2 diabetes; aortic compliance blood pressure, arterial cardiac output heart rate hypertension left ventricular mass systemic vascular resistance; endurance; kidney aging; dyspepsia; autonomic nervous system function; null; Schizophrenia; Alzheimer's disease ; Glucose Tolerance Test; blood pressure; glucose-stimulated beta cell function; irritability hostility impulsivity and memory; Cholesterol, HDL; cognitive ability Mice homozygous for targeted mutations that inactivate the gene fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing. Surfactant metabolism GO:0001819;positive regulation of cytokine production;IDA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;ISS|GO:0007194;negative regulation of adenylate cyclase activity;ISS|GO:0007265;Ras protein signal transduction;TAS|GO:0007266;Rho protein signal transduction;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010700;negative regulation of norepinephrine secretion;NAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030036;actin cytoskeleton organization;TAS|GO:0030168;platelet activation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0032148;activation of protein kinase B activity;IDA|GO:0032811;negative regulation of epinephrine secretion;NAS|GO:0032870;cellular response to hormone stimulus;IGI|GO:0035625;epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway;IDA|GO:0042593;glucose homeostasis;IMP|GO:0043268;positive regulation of potassium ion transport;ISS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IDA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IC|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050892;intestinal absorption;TAS|GO:0050995;negative regulation of lipid catabolic process;IGI|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0061179;negative regulation of insulin secretion involved in cellular response to glucose stimulus;IMP|GO:0071878;negative regulation of adrenergic receptor signaling pathway;ISS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IBA|GO:0071881;adenylate cyclase-inhibiting adrenergic receptor signaling pathway;IDA|GO:0071882;phospholipase C-activating adrenergic receptor signaling pathway;IDA|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IDA|GO:0090303;positive regulation of wound healing;IMP|GO:1901020;negative regulation of calcium ion transmembrane transporter activity;ISS GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;TAS|GO:0043235;receptor complex;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004938;alpha2-adrenergic receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031692;alpha-1B adrenergic receptor binding;ISS|GO:0031696;alpha-2C adrenergic receptor binding;IPI|GO:0031996;thioesterase binding;IPI|GO:0032795;heterotrimeric G-protein binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IDA|GO:0051380;norepinephrine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ADRA2A https://www.uniprot.org/uniprot/P08913 https://www.ncbi.nlm.nih.gov/omim/?term=104210 http://www.informatics.jax.org/searchtool/Search.do?query=ADRA2A&submit=Quick%0D%9330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRA2A rs55829119 0.25639 0 0 1 0 0 intergenic intergenic intergenic ADRA2A(dist=147892),GPAM(dist=921068) ADRA2A(dist=147892),GPAM(dist=921068) ENSG00000213247(dist=123548),ENSG00000237618(dist=93982) Na Na Na Na Na Na Het;G>T 136;15|9 Het;G>T 377;16|18 Hom;G>T 1463;0|54 N N - 10 113489179 113489179 T C snp intergenic ADRA2A Adra2a ENSG00000150594 adrenoceptor alpha 2A chr10:112836790-112840658 Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] attention deficit disorder conduct disorder oppositional defiant disorder; Irritable Bowel Syndrome; Sleep Apnea, Obstructive; suicide; depression; motion sickness; Tunica Media; attention deficit hyperactivity disorder; weight gain; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; von Willebrand factor levels; Hemorrhagic Disorders; Obesity, Morbid; Autism; Weight Gain; alcohol dependence smoking behavior; blood pressure; heart rate; body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone; Acute Coronary Syndrome; Metabolic Syndrome X; Bulimia; Hypertension; Attention Deficit Disorder with Hyperactivity; weight loss; ADHD | attention-deficit hyperactivity disorder; Glucose Transporter Type 2; left ventricular ejection fraction troponin, cardiac; BMI- Edema rosiglitazone or pioglitazone; temperament; idiopathic orthostatic intolerance; hypertension; Platelet Aggregation; body mass; Obesity|Overweight|Weight Loss; Colitis, Ulcerative|Irritable Bowel Syndrome; fasting glucose-related traits ; Liver Cirrhosis; Low Tension Glaucoma; blood pressure, arterial; blood pressure, arterial heart rate norepinephrine; Hypercholesterolemia|LDLC levels; Alzheimer's Disease; platelet function; Tourette syndrome; attention deficit hyperactivity disorder; reading disability; cortisol escape from dexamethasone and elevated glucose levels; response to antidepressants; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; obesity; hyperuicemia; alcohol consumption; depression; Parkinson's disease; schizophrenia; tardive dyskinesia; gastrointestinal disorders; ADHD; smoking; schizophrenia; suicide; Parkinson's disease; Adiposity and Abdominal Obesity; several psychiatric disorders; Type 2 diabetes; aortic compliance blood pressure, arterial cardiac output heart rate hypertension left ventricular mass systemic vascular resistance; endurance; kidney aging; dyspepsia; autonomic nervous system function; null; Schizophrenia; Alzheimer's disease ; Glucose Tolerance Test; blood pressure; glucose-stimulated beta cell function; irritability hostility impulsivity and memory; Cholesterol, HDL; cognitive ability Mice homozygous for targeted mutations that inactivate the gene fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing. Surfactant metabolism GO:0001819;positive regulation of cytokine production;IDA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;ISS|GO:0007194;negative regulation of adenylate cyclase activity;ISS|GO:0007265;Ras protein signal transduction;TAS|GO:0007266;Rho protein signal transduction;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010700;negative regulation of norepinephrine secretion;NAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030036;actin cytoskeleton organization;TAS|GO:0030168;platelet activation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0032148;activation of protein kinase B activity;IDA|GO:0032811;negative regulation of epinephrine secretion;NAS|GO:0032870;cellular response to hormone stimulus;IGI|GO:0035625;epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway;IDA|GO:0042593;glucose homeostasis;IMP|GO:0043268;positive regulation of potassium ion transport;ISS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IDA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IC|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050892;intestinal absorption;TAS|GO:0050995;negative regulation of lipid catabolic process;IGI|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0061179;negative regulation of insulin secretion involved in cellular response to glucose stimulus;IMP|GO:0071878;negative regulation of adrenergic receptor signaling pathway;ISS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IBA|GO:0071881;adenylate cyclase-inhibiting adrenergic receptor signaling pathway;IDA|GO:0071882;phospholipase C-activating adrenergic receptor signaling pathway;IDA|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IDA|GO:0090303;positive regulation of wound healing;IMP|GO:1901020;negative regulation of calcium ion transmembrane transporter activity;ISS GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;TAS|GO:0043235;receptor complex;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004938;alpha2-adrenergic receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031692;alpha-1B adrenergic receptor binding;ISS|GO:0031696;alpha-2C adrenergic receptor binding;IPI|GO:0031996;thioesterase binding;IPI|GO:0032795;heterotrimeric G-protein binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IDA|GO:0051380;norepinephrine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ADRA2A https://www.uniprot.org/uniprot/P08913 https://www.ncbi.nlm.nih.gov/omim/?term=104210 http://www.informatics.jax.org/searchtool/Search.do?query=ADRA2A&submit=Quick%0D%9330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRA2A rs11195698 0.220048 0 0 1 0 0 intergenic intergenic intergenic ADRA2A(dist=648517),GPAM(dist=420443) ADRA2A(dist=648517),GPAM(dist=420443) ENSG00000230809(dist=230480),ENSG00000119927(dist=420445) Na Na Na Na Na Na Het;T>C 80;7|4 Het;T>C 184;4|11 Hom;T>C 654;0|25 N N - 10 11356160 11356160 C T snp synonymous SNV C1035T L345L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CELF2 Celf2 ENSG00000048740 CUGBP Elav-like family member 2 chr10:11047259-11378674 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Lipids; Heart Failure; Glomerular Filtration Rate; Type 2 Diabetes| edema | rosiglitazone; Cystatins; Creatinine; Tobacco Use Disorder; E-Selectin; Alzheimer's disease ; Coronary Artery Disease; Narcolepsy Mice homozygous for a knock-out allele die neonatally and postnatally with reduced axon extension in DRG explants. GO:0006376;mRNA splice site selection;IEA|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008016;regulation of heart contraction;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CELF2 https://www.uniprot.org/uniprot/O95319 https://www.ncbi.nlm.nih.gov/omim/?term=602538 http://www.informatics.jax.org/searchtool/Search.do?query=CELF2&submit=Quick%0D%896ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CELF2 rs2246449 0.451078 0.3562 0.3493 1 0 0 exonic exonic exonic CELF2 CELF2 ENSG00000048740 synonymous SNV synonymous SNV unknown CELF2:NM_006561:exon10:c.C1035T:p.L345L,CELF2:NM_001083591:exon10:c.C942T:p.L314L,CELF2:NM_001025077:exon10:c.C1014T:p.L338L,CELF2:NM_001025076:exon10:c.C942T:p.L314L, CELF2:uc010qbm.1:exon8:c.C330T:p.L110L,CELF2:uc001ikl.4:exon10:c.C1035T:p.L345L,CELF2:uc001iki.4:exon10:c.C1014T:p.L338L,CELF2:uc010qbp.1:exon7:c.C330T:p.L110L,CELF2:uc010qbj.1:exon10:c.C1014T:p.L338L,CELF2:uc001ikp.4:exon10:c.C942T:p.L314L,CELF2:uc010qbi.2:exon8:c.C330T:p.L110L,CELF2:uc010qbl.1:exon10:c.C942T:p.L314L,CELF2:uc010qbo.1:exon8:c.C681T:p.L227L,CELF2:uc001iko.4:exon10:c.C942T:p.L314L,CELF2:uc001ikk.2:exon10:c.C1035T:p.L345L, UNKNOWN Het;C>T 978;77|51 Het;C>T 1527;46|69 Hom;C>T 3075;0|116 N N - 10 114075364 114075364 G A snp ncRNA_intronic GUCY2GP rs4918736 0.416134 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic GUCY2GP GUCY2GP ENSG00000243316 Na Na Na Na Na Na Het;G>A 166;4|7 Het;G>A 361;1|11 Hom;G>A 177;0|6 N N - 10 114096400 114096400 A G snp ncRNA_intronic GUCY2GP rs7904058 0.391973 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic GUCY2GP GUCY2GP ENSG00000243316 Na Na Na Na Na Na Het;A>G 123;1|4 Het;A>G 231;1|7 Hom;A>G 185;0|6 N N - 10 114101508 114101508 T TA indel ncRNA_exonic GUCY2GP rs397811349 0.376398 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic GUCY2GP GUCY2GP ENSG00000243316 Na Na Na Na Na Na Het;+A 428;15|23 Het;+A 825;7|41 Hom;+A 1192;5|55 N N - 10 11487834 11487834 A T snp intergenic CELF2-AS1 rs2440069 0.115815 0 0 1 0 0 intergenic intergenic intergenic CELF2-AS1(dist=101161),USP6NL(dist=14675) CELF2(dist=109162),USP6NL(dist=14675) ENSG00000048740(dist=109160),ENSG00000148429(dist=8111) Na Na Na Na Na Na Het;A>T 48;1|3 Ref Hom;A>T 110;0|5 N N - 10 115439530 115439530 G C snp nonsynonymous SNV G17C R6P polar,hydrophilic,charged(+) hydrophobic,neutral CASP7 Casp7 ENSG00000165806 caspase 7 chr10:115438942-115490662 This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Arthritis, Rheumatoid|; colorectal cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Endometrial Neoplasms|; rheumatoid arthritis; Gastrointestinal Stromal Tumors; esophageal adenocarcinoma; smoking cessation; lung cancer; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Magnesium; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Alzheimer's disease ; benzene haematotoxicity; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; lung cancer ; longevity; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; Alzheimer Disease|Alzheimer's Disease|Amnesia; diabetes, type 1; Tobacco Use Disorder; multiple sclerosis Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development. Caspase-mediated cleavage of cytoskeletal proteins GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;TAS|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0009411;response to UV;IEA|GO:0016485;protein processing;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0072734;cellular response to staurosporine;IMP|GO:0097194;execution phase of apoptosis;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0097200;cysteine-type endopeptidase activity involved in execution phase of apoptosis;IMP http://www.genecards.org/index.php?path=/Search/keyword/CASP7 https://www.ncbi.nlm.nih.gov/omim/?term=601761 http://www.informatics.jax.org/searchtool/Search.do?query=CASP7&submit=Quick%0D%11630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CASP7 rs28411397 0.275559 0 0.5130 0.25 1 4 exonic exonic UTR5 CASP7 CASP7 ENSG00000165806(ENST00000369321:c.-12201G>C,ENST00000345633:c.-17723G>C) nonsynonymous SNV nonsynonymous SNV Na CASP7:NM_001267057:exon1:c.G17C:p.R6P, CASP7:uc010qsa.3:exon1:c.G17C:p.R6P, Na Het;G>C 83;16|6 Het;G>C 145;13|9 Hom;G>C 476;0|18 N N - 10 115481018 115481018 C T snp intronic CASP7 Casp7 ENSG00000165806 caspase 7 chr10:115438942-115490662 This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Arthritis, Rheumatoid|; colorectal cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Endometrial Neoplasms|; rheumatoid arthritis; Gastrointestinal Stromal Tumors; esophageal adenocarcinoma; smoking cessation; lung cancer; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Magnesium; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Alzheimer's disease ; benzene haematotoxicity; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; lung cancer ; longevity; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; Alzheimer Disease|Alzheimer's Disease|Amnesia; diabetes, type 1; Tobacco Use Disorder; multiple sclerosis Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development. Caspase-mediated cleavage of cytoskeletal proteins GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;TAS|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0009411;response to UV;IEA|GO:0016485;protein processing;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0072734;cellular response to staurosporine;IMP|GO:0097194;execution phase of apoptosis;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0097200;cysteine-type endopeptidase activity involved in execution phase of apoptosis;IMP http://www.genecards.org/index.php?path=/Search/keyword/CASP7 https://www.ncbi.nlm.nih.gov/omim/?term=601761 http://www.informatics.jax.org/searchtool/Search.do?query=CASP7&submit=Quick%0D%11630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CASP7 rs3814231 0.261182 0 0 1 0 0 intronic intronic intronic CASP7 CASP7 ENSG00000165806 Na Na Na Na Na Na Het;C>T 416;16|17 Het;C>T 346;7|15 Hom;C>T 746;0|22 N N - 10 116073801 116073801 T C snp synonymous SNV A621G K207K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) AFAP1L2 Afap1l2 ENSG00000169129 actin filament associated protein 1 like 2 chr10:116054583-116164515 Alzheimer's disease ; Cognitive performance ; Hip; Alcoholism GO:0006954;inflammatory response;IDA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0009966;regulation of signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032675;regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0035591;signaling adaptor activity;IEA|GO:0042169;SH2 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L2 https://www.ncbi.nlm.nih.gov/omim/?term=612420 http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L2&submit=Quick%0D%12422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L2 rs621375 0.354433 0.3431 0.2382 1 0 0 exonic exonic exonic AFAP1L2 AFAP1L2 ENSG00000169129 synonymous SNV synonymous SNV unknown AFAP1L2:NM_001001936:exon7:c.A621G:p.K207K,AFAP1L2:NM_032550:exon7:c.A621G:p.K207K,AFAP1L2:NM_001287824:exon8:c.A780G:p.K260K, AFAP1L2:uc001lbp.3:exon8:c.A705G:p.K235K,AFAP1L2:uc001lbo.3:exon7:c.A621G:p.K207K,AFAP1L2:uc010qse.2:exon8:c.A780G:p.K260K,AFAP1L2:uc001lbn.3:exon7:c.A621G:p.K207K,AFAP1L2:uc001lbr.1:exon7:c.A621G:p.K207K, UNKNOWN Het;T>C 866;45|38 Het;T>C 753;28|35 Hom;T>C 2220;2|80 N N - 10 116756226 116756226 C G snp ncRNA_intronic LOC102724589 rs11197023 0.200679 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102724589 TRUB1(dist=18787),ATRNL1(dist=96898) ENSG00000236799 Na Na Na Na Na Na Het;C>G 840;95|48 Het;C>G 797;73|45 Hom;C>G 2773;4|105 N N - 10 117228946 117228946 C T snp intronic ATRNL1 Atrnl1 ENSG00000107518 attractin like 1 chr10:116853124-117708503 Body Weight; Respiratory Function Tests; Tobacco Use Disorder; Alzheimer's disease ; Hemoglobins; Glucose; Body Weights and Measures; Hand Strength; Neurobehavioral Manifestations Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATRNL1 https://www.uniprot.org/uniprot/Q5VV63 https://www.ncbi.nlm.nih.gov/omim/?term=612869 http://www.informatics.jax.org/searchtool/Search.do?query=ATRNL1&submit=Quick%0D%3610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATRNL1 rs12770375 0.138578 0 0 1 0 0 intronic intronic intronic ATRNL1 ATRNL1 ENSG00000107518 Na Na Na Na Na Na Het;C>T 87;3|4 Het;C>T 54;4|3 Hom;C>T 275;0|9 N N - 10 117308880 117308880 A G snp intronic ATRNL1 Atrnl1 ENSG00000107518 attractin like 1 chr10:116853124-117708503 Body Weight; Respiratory Function Tests; Tobacco Use Disorder; Alzheimer's disease ; Hemoglobins; Glucose; Body Weights and Measures; Hand Strength; Neurobehavioral Manifestations Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATRNL1 https://www.uniprot.org/uniprot/Q5VV63 https://www.ncbi.nlm.nih.gov/omim/?term=612869 http://www.informatics.jax.org/searchtool/Search.do?query=ATRNL1&submit=Quick%0D%3610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATRNL1 rs1336109 0.146565 0 0 1 0 0 intronic intronic intronic ATRNL1 ATRNL1 ENSG00000107518 Na Na Na Na Na Na Het;A>G 175;12|7 Het;A>G 186;7|6 Hom;A>G 829;0|23 N N - 10 117309098 117309098 G A snp intronic ATRNL1 Atrnl1 ENSG00000107518 attractin like 1 chr10:116853124-117708503 Body Weight; Respiratory Function Tests; Tobacco Use Disorder; Alzheimer's disease ; Hemoglobins; Glucose; Body Weights and Measures; Hand Strength; Neurobehavioral Manifestations Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATRNL1 https://www.uniprot.org/uniprot/Q5VV63 https://www.ncbi.nlm.nih.gov/omim/?term=612869 http://www.informatics.jax.org/searchtool/Search.do?query=ATRNL1&submit=Quick%0D%3610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATRNL1 rs1336108 0.596246 0.7437 0.6459 1 0 0 intronic intronic intronic ATRNL1 ATRNL1 ENSG00000107518 Na Na Na Na Na Na Het;G>A 142;23|10 Het;G>A 654;19|26 Hom;G>A 1570;0|57 N N - 10 117856379 117856385 TGCACAC T indel intronic GFRA1 Gfra1 ENSG00000151892 GDNF family receptor alpha 1 chr10:117816444-118032979 This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Hirschsprung Disease|Hydronephrosis|Vesico-Ureteral Reflux; Socioeconomic Factors; Alzheimer's disease ; Hyperparathyroidism, Secondary; thyroid cancer; hepatitis C; liver cancer; Leukocyte Count; Tobacco Use Disorder; Hirschsprung's disease Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality. RET signaling GO:0000165;MAPK cascade;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;TAS|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;TAS|GO:0016167;glial cell-derived neurotrophic factor receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GFRA1 https://www.uniprot.org/uniprot/P56159 https://www.ncbi.nlm.nih.gov/omim/?term=601496 http://www.informatics.jax.org/searchtool/Search.do?query=GFRA1&submit=Quick%0D%9485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFRA1 rs66851912 0.984225 0 0 1 0 0 intronic intronic intronic GFRA1 GFRA1 ENSG00000151892 Na Na Na Na Na Na Het;-GCACAC 347;3|12 Het;-GCACAC 575;2|15 Hom;-GCACAC 513;0|14 N N - 10 11893971 11893971 T G snp ncRNA_intronic PROSER2-AS1 rs7079747 0.653554 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PROSER2-AS1 PROSER2-AS1 ENSG00000225778 Na Na Na Na Na Na Het;T>G 239;18|9 Het;T>G 31;5|2 Hom;T>G 585;0|18 N N - 10 119013186 119013186 G A snp intronic SLC18A2 Slc18a2 ENSG00000165646 solute carrier family 18 member A2 chr10:119000604-119038941 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011] Narcolepsy; Marijuana Abuse|Psychoses, Substance-Induced; null; Tobacco Use Disorder; Bulimia; alcohol abuse; nicotine dependence; Weight Gain; Parkinson's disease; alcohol abuse; financial and psychological risk attitudes; Respiratory Function Tests; alcohol consumption; bipolar disorder schizophrenia; smoking cessation; Parkinson's disease; schizophrenia; Bipolar Disorder; antidepressant response Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior. Na+/Cl- dependent neurotransmitter transporters GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006837;serotonin transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007626;locomotory behavior;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IBA|GO:0015844;monoamine transport;TAS|GO:0015872;dopamine transport;TAS|GO:0042137;sequestering of neurotransmitter;NAS|GO:0055085;transmembrane transport;IEA|GO:0098700;neurotransmitter loading into synaptic vesicle;TAS|GO:1903427;negative regulation of reactive oxygen species biosynthetic process;NAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS GO:0008504;monoamine transmembrane transporter activity;TAS|GO:0015222;serotonin transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC18A2 https://hpo.jax.org/app/browse/search?q=SLC18A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=193001 http://www.informatics.jax.org/searchtool/Search.do?query=SLC18A2&submit=Quick%0D%11589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC18A2 rs2532807 0.429712 0 0 1 0 0 intronic intronic intronic SLC18A2 SLC18A2 ENSG00000165646 Na Na Na Na Na Na Het;G>A 163;2|6 Ref Hom;G>A 127;0|4 N N - 10 119014931 119014931 C T snp intronic SLC18A2 Slc18a2 ENSG00000165646 solute carrier family 18 member A2 chr10:119000604-119038941 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011] Narcolepsy; Marijuana Abuse|Psychoses, Substance-Induced; null; Tobacco Use Disorder; Bulimia; alcohol abuse; nicotine dependence; Weight Gain; Parkinson's disease; alcohol abuse; financial and psychological risk attitudes; Respiratory Function Tests; alcohol consumption; bipolar disorder schizophrenia; smoking cessation; Parkinson's disease; schizophrenia; Bipolar Disorder; antidepressant response Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior. Na+/Cl- dependent neurotransmitter transporters GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006837;serotonin transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007626;locomotory behavior;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IBA|GO:0015844;monoamine transport;TAS|GO:0015872;dopamine transport;TAS|GO:0042137;sequestering of neurotransmitter;NAS|GO:0055085;transmembrane transport;IEA|GO:0098700;neurotransmitter loading into synaptic vesicle;TAS|GO:1903427;negative regulation of reactive oxygen species biosynthetic process;NAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS GO:0008504;monoamine transmembrane transporter activity;TAS|GO:0015222;serotonin transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC18A2 https://hpo.jax.org/app/browse/search?q=SLC18A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=193001 http://www.informatics.jax.org/searchtool/Search.do?query=SLC18A2&submit=Quick%0D%11589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC18A2 rs363420 0.635383 0.7762 0 1 0 0 intronic intronic intronic SLC18A2 SLC18A2 ENSG00000165646 Na Na Na Na Na Na Het;C>T 1903;81|54 Het;C>T 2000;59|59 Hom;C>T 5101;2|125 N N - 10 119014948 119014948 C A snp intronic SLC18A2 Slc18a2 ENSG00000165646 solute carrier family 18 member A2 chr10:119000604-119038941 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011] Narcolepsy; Marijuana Abuse|Psychoses, Substance-Induced; null; Tobacco Use Disorder; Bulimia; alcohol abuse; nicotine dependence; Weight Gain; Parkinson's disease; alcohol abuse; financial and psychological risk attitudes; Respiratory Function Tests; alcohol consumption; bipolar disorder schizophrenia; smoking cessation; Parkinson's disease; schizophrenia; Bipolar Disorder; antidepressant response Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior. Na+/Cl- dependent neurotransmitter transporters GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006837;serotonin transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007626;locomotory behavior;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IBA|GO:0015844;monoamine transport;TAS|GO:0015872;dopamine transport;TAS|GO:0042137;sequestering of neurotransmitter;NAS|GO:0055085;transmembrane transport;IEA|GO:0098700;neurotransmitter loading into synaptic vesicle;TAS|GO:1903427;negative regulation of reactive oxygen species biosynthetic process;NAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS GO:0008504;monoamine transmembrane transporter activity;TAS|GO:0015222;serotonin transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC18A2 https://hpo.jax.org/app/browse/search?q=SLC18A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=193001 http://www.informatics.jax.org/searchtool/Search.do?query=SLC18A2&submit=Quick%0D%11589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC18A2 rs363343 0.637979 0.7650 0.7412 1 0 0 intronic intronic intronic SLC18A2 SLC18A2 ENSG00000165646 Na Na Na Na Na Na Het;C>A 1902;76|52 Het;C>A 1813;50|48 Hom;C>A 4865;2|112 N N - 10 11929674 11929674 A G snp ncRNA_intronic PROSER2-AS1 rs942533 0.703674 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PROSER2-AS1 PROSER2-AS1 ENSG00000225778 Na Na Na Na Na Na Het;A>G 50;14|3 Het;A>G 149;8|7 Hom;A>G 596;0|17 N N - 10 11929708 11929708 G C snp ncRNA_intronic PROSER2-AS1 rs942532 0.701478 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PROSER2-AS1 PROSER2-AS1 ENSG00000225778 Na Na Na Na Na Na Het;G>C 313;17|12 Het;G>C 145;16|10 Hom;G>C 888;0|29 N N - 10 11978499 11978499 T G snp intronic UPF2 Upf2 ENSG00000151461 UPF2, regulator of nonsense mediated mRNA decay chr10:11962021-12085169 This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|; Alzheimer's disease Mice homozygous for a knock-out allele exhibit early embryonic lethality. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0001889;liver development;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031100;animal organ regeneration;IEA GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005844;polysome;IBA|GO:0035145;exon-exon junction complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UPF2 https://www.uniprot.org/uniprot/Q9HAU5 https://www.ncbi.nlm.nih.gov/omim/?term=605529 http://www.informatics.jax.org/searchtool/Search.do?query=UPF2&submit=Quick%0D%9421ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UPF2 rs7921794 0.708267 0.5702 0.5630 1 0 0 intronic intronic intronic UPF2 UPF2 ENSG00000151461 Na Na Na Na Na Na Het;T>G 159;17|8 Het;T>G 464;9|17 Hom;T>G 1103;0|37 N N - 10 120803746 120803746 T C snp intronic EIF3A Eif3a ENSG00000107581 eukaryotic translation initiation factor 3 subunit A chr10:120794356-120840316 Albuminuria; Alzheimer's disease GTP hydrolysis and joining of the 60S ribosomal subunit GO:0001732;formation of cytoplasmic translation initiation complex;IDA|GO:0002188;translation reinitiation;IBA|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:0075525;viral translational termination-reinitiation;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0043614;multi-eIF complex;IBA|GO:0071540;eukaryotic translation initiation factor 3 complex, eIF3e;IBA|GO:0071541;eukaryotic translation initiation factor 3 complex, eIF3m;IEA GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IBA|GO:0003743;translation initiation factor activity;IEA|GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF3A https://www.uniprot.org/uniprot/Q14152 https://www.ncbi.nlm.nih.gov/omim/?term=602039 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3A&submit=Quick%0D%3618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3A rs3740553 0.492212 0 0 1 0 0 intronic intronic intronic EIF3A EIF3A ENSG00000107581 Na Na Na Na Na Na Het;T>C 41;5|3 Ref Hom;T>C 231;0|7 N N - 10 120832804 120832804 C T snp intronic EIF3A Eif3a ENSG00000107581 eukaryotic translation initiation factor 3 subunit A chr10:120794356-120840316 Albuminuria; Alzheimer's disease GTP hydrolysis and joining of the 60S ribosomal subunit GO:0001732;formation of cytoplasmic translation initiation complex;IDA|GO:0002188;translation reinitiation;IBA|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:0075525;viral translational termination-reinitiation;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0043614;multi-eIF complex;IBA|GO:0071540;eukaryotic translation initiation factor 3 complex, eIF3e;IBA|GO:0071541;eukaryotic translation initiation factor 3 complex, eIF3m;IEA GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IBA|GO:0003743;translation initiation factor activity;IEA|GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF3A https://www.uniprot.org/uniprot/Q14152 https://www.ncbi.nlm.nih.gov/omim/?term=602039 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3A&submit=Quick%0D%3618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3A rs1397617 0.492812 0 0 1 0 0 intronic intronic intronic EIF3A EIF3A ENSG00000107581 Na Na Na Na Na Na Het;C>T 318;6|10 Ref Hom;C>T 272;0|8 N N - 10 120877248 120877248 G C snp ncRNA_intronic FAM45B rs2901173 0.566893 0 0 1 0 0 ncRNA_intronic intronic intronic FAM45B FAM45B ENSG00000119979 Na Na Na Na Na Na Het;G>C 732;24|26 Het;G>C 429;23|18 Hom;G>C 735;0|25 N N - 10 120896927 120896927 G A snp ncRNA_exonic FAM45B rs4752252 0.578674 0 0 1 0 0 ncRNA_exonic UTR3 downstream FAM45B FAM45B(uc001ldw.3:c.*768G>A,uc010qsv.2:c.*768G>A,uc010qsw.2:c.*768G>A,uc010qsy.2:c.*768G>A) ENSG00000119979 Na Na Na Na Na Na Het;G>A 1466;62|61 Het;G>A 1241;59|57 Hom;G>A 2858;0|104 N N - 10 120897063 120897063 C T snp ncRNA_exonic FAM45B rs4751697 0.659744 0 0 1 0 0 ncRNA_exonic UTR3 downstream FAM45B FAM45B(uc001ldw.3:c.*904C>T,uc010qsv.2:c.*904C>T,uc010qsw.2:c.*904C>T,uc010qsy.2:c.*904C>T) ENSG00000119979 Na Na Na Na Na Na Het;C>T 1833;102|87 Het;C>T 1548;120|78 Hom;C>T 5028;2|187 N N - 10 121432371 121432371 G A snp intronic BAG3 Bag3 ENSG00000151929 BCL2 associated athanogene 3 chr10:121410882-121437331 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; longevity; Magnesium; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; Cardiomyopathy, Dilated; schizophrenia; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Type 2 Diabetes| edema | rosiglitazone; Stroke Mice homozygous for a gene trap allele exhibit postnatal lethality, growth retardation, cardiomyocyte and skeletal myocyte degeneration, and pulmonary edema. Mice homozygous for a null allele also exhibit postnatal lethality and growth retardation but lack the myocyte degeneration phenotype. Regulation of HSF1-mediated heat shock response GO:0006457;protein folding;NAS|GO:0006915;apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:0010664;negative regulation of striated muscle cell apoptotic process;IEA|GO:0021510;spinal cord development;IEA|GO:0034605;cellular response to heat;IDA|GO:0042993;positive regulation of transcription factor import into nucleus;IMP|GO:0043066;negative regulation of apoptotic process;NAS|GO:0046827;positive regulation of protein export from nucleus;IMP|GO:0050790;regulation of catalytic activity;IEA|GO:0050821;protein stabilization;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097201;negative regulation of transcription from RNA polymerase II promoter in response to stress;IMP|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;IEA|GO:0043005;neuron projection;IEA GO:0000774;adenyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051087;chaperone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BAG3 https://www.uniprot.org/uniprot/O95817 https://hpo.jax.org/app/browse/search?q=BAG3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603883 http://www.informatics.jax.org/searchtool/Search.do?query=BAG3&submit=Quick%0D%9490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BAG3 rs196328 0.438898 0 0 1 0 0 intronic intronic intronic BAG3 BAG3 ENSG00000151929 Na Na Na Na Na Na Het;G>A 111;7|5 Ref Hom;G>A 80;0|3 N N - 10 122216484 122216484 T G snp UTR5 -334T>G PLPP4 Plpp4 rs9420299 0.657947 0 0 1 0 0 UTR5 UTR5 UTR5 PPAPDC1A(NM_001030059:c.-334T>G) PPAPDC1A(uc010qtd.2:c.-334T>G,uc001lev.1:c.-334T>G,uc009xzl.1:c.-334T>G,uc001lew.1:c.-334T>G,uc001lex.1:c.-334T>G) ENSG00000203805(ENST00000398248:c.-334T>G,ENST00000439221:c.-334T>G,ENST00000398250:c.-334T>G) Na Na Na Na Na Na Het;T>G 167;9|9 Het;T>G 77;4|4 Hom;T>G 213;0|9 N N - 10 122216790 122216790 A T snp UTR5 -28A>T PLPP4 Plpp4 rs10886691 0.694688 0.7446 0.7380 1 0 0 UTR5 UTR5 UTR5 PPAPDC1A(NM_001030059:c.-28A>T) PPAPDC1A(uc010qtd.2:c.-28A>T,uc001lev.1:c.-28A>T,uc009xzl.1:c.-28A>T,uc001lew.1:c.-28A>T,uc001lex.1:c.-28A>T) ENSG00000203805(ENST00000398248:c.-28A>T,ENST00000439221:c.-28A>T,ENST00000398250:c.-28A>T,ENST00000427079:c.-28A>T,ENST00000541332:c.-28A>T) Na Na Na Na Na Na Het;A>T 161;17|8 Het;A>T 463;16|23 Hom;A>T 988;0|38 N N - 10 122610787 122610787 T A snp UTR5 -146T>A WDR11 Wdr11 ENSG00000120008 WD repeat domain 11 chr10:122610687-122669036 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008] Asthma; Alzheimer's disease ; Coronary Disease Nullizygous mice show mid-gestational and perinatal lethality and developmental anomalies associated with defective Hh signalling and ciliogenesis, including eye, skeletal, heart and craniofacial defects, holoprosencephaly, pituitary dysgenesis, delayed puberty, reproductive dysfunction and obesity. GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR11 https://www.uniprot.org/uniprot/Q9BZH6 https://hpo.jax.org/app/browse/search?q=WDR11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606417 http://www.informatics.jax.org/searchtool/Search.do?query=WDR11&submit=Quick%0D%5152ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR11 rs12267610 0.257788 0 0 1 0 0 ncRNA_intronic UTR5 UTR5 MIR5694 WDR11(uc010qte.2:c.-146T>A,uc021pzt.1:c.-146T>A) ENSG00000120008(ENST00000263461:c.-146T>A) Na Na Na Na Na Na Het;T>A 265;1|9 Het;T>A 78;1|3 Hom;T>A 250;0|8 N N - 10 123247751 123247751 T TA indel intronic FGFR2 Fgfr2 ENSG00000066468 fibroblast growth factor receptor 2 chr10:123237848-123357972 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] Chiari type I malformation and syringomyelia; oral clefts; hair thickness; Hypertension; hypospadias; breast cancer; Breast cancer; Pfeiffer syndrome; Bone Mineral Density; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; ovarian cancer; breast cancer|ovarian cancer; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Sleep Apnea, Obstructive; breast cancer ; craniosynostosis; Cleft Lip|Cleft Palate; schizophrenia; Alzheimer's disease ; major depressive disorder; Breast Neoplasms|Mammary Neoplasms; Endometriosis; Pancreatic Neoplasms; Tobacco Use Disorder; cutaneous squamous cell carcinoma Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. Signaling by FGFR2 fusions GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001657;ureteric bud development;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003149;membranous septum morphogenesis;ISS|GO:0003416;endochondral bone growth;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007267;cell-cell signaling;ISS|GO:0007409;axonogenesis;ISS|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008589;regulation of smoothened signaling pathway;ISS|GO:0009791;post-embryonic development;ISS|GO:0009880;embryonic pattern specification;ISS|GO:0009887;animal organ morphogenesis;ISS|GO:0010453;regulation of cell fate commitment;ISS|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0016331;morphogenesis of embryonic epithelium;ISS|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021769;orbitofrontal cortex development;ISS|GO:0021847;ventricular zone neuroblast division;ISS|GO:0021860;pyramidal neuron development;ISS|GO:0022612;gland morphogenesis;ISS|GO:0030177;positive regulation of Wnt signaling pathway;ISS|GO:0030282;bone mineralization;ISS|GO:0030324;lung development;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030901;midbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0031069;hair follicle morphogenesis;ISS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032808;lacrimal gland development;ISS|GO:0033688;regulation of osteoblast proliferation;TAS|GO:0035264;multicellular organism growth;ISS|GO:0035265;organ growth;ISS|GO:0035602;fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow;ISS|GO:0035603;fibroblast growth factor receptor signaling pathway involved in hemopoiesis;ISS|GO:0035604;fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow;ISS|GO:0035607;fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development;ISS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0040014;regulation of multicellular organism growth;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;ISS|GO:0042060;wound healing;IEA|GO:0042472;inner ear morphogenesis;ISS|GO:0042476;odontogenesis;ISS|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0045165;cell fate commitment;ISS|GO:0045471;response to ethanol;IEA|GO:0045667;regulation of osteoblast differentiation;TAS|GO:0045787;positive regulation of cell cycle;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048286;lung alveolus development;ISS|GO:0048333;mesodermal cell differentiation;IEA|GO:0048557;embryonic digestive tract morphogenesis;ISS|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048565;digestive tract development;ISS|GO:0048568;embryonic organ development;ISS|GO:0048608;reproductive structure development;ISS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;TAS|GO:0048730;epidermis morphogenesis;ISS|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0048762;mesenchymal cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;ISS|GO:0051781;positive regulation of cell division;ISS|GO:0055010;ventricular cardiac muscle tissue morphogenesis;ISS|GO:0060045;positive regulation of cardiac muscle cell proliferation;ISS|GO:0060174;limb bud formation;ISS|GO:0060348;bone development;ISS|GO:0060349;bone morphogenesis;ISS|GO:0060442;branching involved in prostate gland morphogenesis;ISS|GO:0060445;branching involved in salivary gland morphogenesis;ISS|GO:0060449;bud elongation involved in lung branching;ISS|GO:0060463;lung lobe morphogenesis;ISS|GO:0060484;lung-associated mesenchyme development;ISS|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;ISS|GO:0060512;prostate gland morphogenesis;ISS|GO:0060523;prostate epithelial cord elongation;ISS|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;ISS|GO:0060529;squamous basal epithelial stem cell differentiation involved in prostate gland acinus development;ISS|GO:0060595;fibroblast growth factor receptor signaling pathway involved in mammary gland specification;ISS|GO:0060601;lateral sprouting from an epithelium;ISS|GO:0060615;mammary gland bud formation;ISS|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;ISS|GO:0060667;branch elongation involved in salivary gland morphogenesis;ISS|GO:0060670;branching involved in labyrinthine layer morphogenesis;ISS|GO:0060687;regulation of branching involved in prostate gland morphogenesis;ISS|GO:0060688;regulation of morphogenesis of a branching structure;ISS|GO:0060915;mesenchymal cell differentiation involved in lung development;ISS|GO:0060916;mesenchymal cell proliferation involved in lung development;ISS|GO:0070372;regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071300;cellular response to retinoic acid;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005938;cell cortex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0060076;excitatory synapse;ISS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FGFR2 https://www.uniprot.org/uniprot/P21802 https://hpo.jax.org/app/browse/search?q=FGFR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176943 http://www.informatics.jax.org/searchtool/Search.do?query=FGFR2&submit=Quick%0D%1223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR2 rs4647914 0.369609 0 0 1 0 0 intronic intronic intronic FGFR2 FGFR2 ENSG00000066468 Na Na Na Na Na Na Het;+A 40;7|3 Ref Hom;+A 187;0|6 N N - 10 124018723 124018724 TA T indel intergenic TACC2 Tacc2 ENSG00000138162 transforming acidic coiled-coil containing protein 2 chr10:123748689-124014060 Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Tobacco Use Disorder; breast cancer Homozygous null mice are healthy and fertile and do not display any increase in tumorigenesis. GO:0000226;microtubule cytoskeleton organization;IBA|GO:0008283;cell proliferation;IBA|GO:0021987;cerebral cortex development;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015630;microtubule cytoskeleton;IBA GO:0035257;nuclear hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TACC2 https://www.uniprot.org/uniprot/O95359 https://www.ncbi.nlm.nih.gov/omim/?term=605302 http://www.informatics.jax.org/searchtool/Search.do?query=TACC2&submit=Quick%0D%7688ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TACC2 rs11291882 0.616214 0 0 1 0 0 intergenic intergenic intergenic TACC2(dist=4663),BTBD16(dist=12097) TACC2(dist=4666),BTBD16(dist=12097) ENSG00000138162(dist=4663),ENSG00000138152(dist=12097) Na Na Na Na Na Na Het;-A 164;2|6 Ref Hom;-A 128;0|4 N N - 10 124216384 124216384 C CTA indel intronic ARMS2 ENSG00000254636 age-related maculopathy susceptibility 2 chr10:124214169-124216868 This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008] Diseases in Twins|Macular Degeneration|Retinal Drusen; Choroidal Neovascularization|Macular Degeneration; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases|Retinal Neovascularization; Choroid Diseases|Peripheral Vascular Diseases|Vitreous Hemorrhage; Peripheral Vascular Diseases; Choroidal Neovascularization|Geographic Atrophy; atherosclerosis, coronary; Alzheimer's disease ; Macular Degeneration|Peripheral Vascular Diseases; Geographic Atrophy|Macular Degeneration; Choroid Diseases|Peripheral Vascular Diseases; Hip; Apolipoprotein A-I; age-related maculopathy; Choroiditis|Macular Degeneration; diabetes, type 2; Macular Degeneration; Retinal Diseases; Diabetes Mellitus, Type 2|Inflammatory Bowel Diseases|Macular Degeneration|Prostatic Neoplasms; null; Geographic Atrophy|Macular Degeneration|Retinal Drusen; age-related macular degeneration; choroidal neovascularization; Blind Vision|Blindness|Choroidal Neovascularization|Macular Degeneration; Choroid Diseases|Choroidal Neovascularization|Macular Degeneration|Peripheral Vascular Diseases; Macular Degeneration|Neovascularization, Pathologic; Age-related Macular Degeneration; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases; macular degeneration; atherosclerosis|myocardial infarction GO:0001895;retina homeostasis;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARMS2 https://www.ncbi.nlm.nih.gov/omim/?term=611313 http://www.informatics.jax.org/searchtool/Search.do?query=ARMS2&submit=Quick%0D%20070ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMS2 rs10664316 0.652157 0.6296 0.6097 1 0 0 intronic intronic intronic ARMS2 ARMS2 ENSG00000254636 Na Na Na Na Na Na Het;+TA 1249;48|32 Het;+TA 1444;52|39 Hom;+TA 4176;0|91 N N - 10 124271595 124271595 G A snp intronic HTRA1 Htra1 ENSG00000166033 HtrA serine peptidase 1 chr10:124221041-124274424 This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008] macular degeneration; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Choroidal Neovascularization|Geographic Atrophy|Macular Degeneration; Geographic Atrophy|Macular Degeneration; Macular Degeneration; choroidal neovascularization; Choroiditis|Macular Degeneration; age-related macular degeneration; Choroidal Neovascularization|Macular Degeneration; null; atherosclerosis; olanzapine; Choroid Diseases|Choroidal Neovascularization|Macular Degeneration|Peripheral Vascular Diseases; Macular Degeneration|Neovascularization, Pathologic; Choroidal Neovascularization|Macular Degeneration|Retinal Drusen; Angiomatosis|Choroidal Neovascularization|Macular Degeneration; Blind Vision|Blindness|Choroidal Neovascularization|Macular Degeneration; Tobacco Use Disorder; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases; Alzheimer's disease ; Age-related macular degeneration (wet); spinal disc degeneration; Choroidal Neovascularization|Geographic Atrophy; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's Disease; Choroidal Neovascularization|Macular Degeneration|Peripheral Vascular Diseases; Geographic Atrophy|Macular Degeneration|Retinal Drusen; Arthritis, Rheumatoid|Rheumatoid Arthritis Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. Degradation of the extracellular matrix GO:0001558;regulation of cell growth;IEA|GO:0001890;placenta development;IEA|GO:0006508;proteolysis;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050687;negative regulation of defense response to virus;IEA|GO:0060718;chorionic trophoblast cell differentiation;IEA|GO:0097187;dentinogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019838;growth factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HTRA1 https://hpo.jax.org/app/browse/search?q=HTRA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602194 http://www.informatics.jax.org/searchtool/Search.do?query=HTRA1&submit=Quick%0D%11682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA1 rs2272599 0.627995 0.6506 0.6113 1 0 0 intronic intronic intronic HTRA1 HTRA1 ENSG00000166033 Na Na Na Na Na Na Het;G>A 189;5|8 Het;G>A 222;8|10 Hom;G>A 897;0|21 N N - 10 124742586 124742586 G A snp intronic PSTK Pstk ENSG00000179988 phosphoseryl-tRNA kinase chr10:124713897-124757029 Acquired Immunodeficiency Syndrome|Disease Progression Selenocysteine synthesis GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA GO:0005739;mitochondrion;IEA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSTK https://www.ncbi.nlm.nih.gov/omim/?term=611310 http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK rs3736585 0.581869 0.6901 0.6361 1 0 0 intronic intronic intronic PSTK PSTK ENSG00000179988 Na Na Na Na Na Na Het;G>A 523;12|18 Het;G>A 379;14|16 Hom;G>A 1071;0|36 N N - 10 124742683 124742683 C T snp intronic PSTK Pstk ENSG00000179988 phosphoseryl-tRNA kinase chr10:124713897-124757029 Acquired Immunodeficiency Syndrome|Disease Progression Selenocysteine synthesis GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA GO:0005739;mitochondrion;IEA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSTK https://www.ncbi.nlm.nih.gov/omim/?term=611310 http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK rs3736584 0.581669 0 0 1 0 0 intronic intronic intronic PSTK PSTK ENSG00000179988 Na Na Na Na Na Na Het;C>T 144;2|5 Het;C>T 176;4|6 Hom;C>T 291;0|9 N N - 10 124742792 124742792 G A snp synonymous SNV G513A S171S polar,hydrophilic,neutral polar,hydrophilic,neutral PSTK Pstk ENSG00000179988 phosphoseryl-tRNA kinase chr10:124713897-124757029 Acquired Immunodeficiency Syndrome|Disease Progression Selenocysteine synthesis GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA GO:0005739;mitochondrion;IEA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSTK https://www.ncbi.nlm.nih.gov/omim/?term=611310 http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK rs3736583 0.581669 0.6885 0.6370 1 0 0 exonic exonic exonic PSTK PSTK ENSG00000179988 synonymous SNV synonymous SNV unknown PSTK:NM_153336:exon3:c.G513A:p.S171S, PSTK:uc001lgy.1:exon3:c.G513A:p.S171S, UNKNOWN Het;G>A 1009;27|43 Het;G>A 516;28|23 Hom;G>A 1468;0|50 N N - 10 124742895 124742895 G C snp nonsynonymous SNV G616C G206R aliphatic,neutral polar,hydrophilic,charged(+) PSTK Pstk ENSG00000179988 phosphoseryl-tRNA kinase chr10:124713897-124757029 Acquired Immunodeficiency Syndrome|Disease Progression Selenocysteine synthesis GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA GO:0005739;mitochondrion;IEA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSTK https://www.ncbi.nlm.nih.gov/omim/?term=611310 http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK rs3736582 0.581669 0.6885 0.6339 0.23 3 13 exonic exonic exonic PSTK PSTK ENSG00000179988 nonsynonymous SNV nonsynonymous SNV unknown PSTK:NM_153336:exon3:c.G616C:p.G206R, PSTK:uc001lgy.1:exon3:c.G616C:p.G206R, UNKNOWN Het;G>C 1752;74|84 Het;G>C 610;79|36 Hom;G>C 2974;0|115 N N - 10 124746801 124746801 T G snp UTR3 *823T>G PSTK Pstk ENSG00000179988 phosphoseryl-tRNA kinase chr10:124713897-124757029 Acquired Immunodeficiency Syndrome|Disease Progression Selenocysteine synthesis GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA GO:0005739;mitochondrion;IEA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSTK https://www.ncbi.nlm.nih.gov/omim/?term=611310 http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK rs7096614 0.58127 0.6915 0.6513 1 0 0 intronic intronic UTR3 PSTK PSTK ENSG00000179988(ENST00000405485:c.*823T>G) Na Na Na Na Na Na Het;T>G 615;17|20 Het;T>G 316;7|9 Hom;T>G 951;0|25 N N - 10 124747108 124747108 T C snp intronic PSTK Pstk ENSG00000179988 phosphoseryl-tRNA kinase chr10:124713897-124757029 Acquired Immunodeficiency Syndrome|Disease Progression Selenocysteine synthesis GO:0001514;selenocysteine incorporation;IEA|GO:0006412;translation;IEA|GO:0016310;phosphorylation;IEA|GO:0097056;selenocysteinyl-tRNA(Sec) biosynthetic process;IEA GO:0005739;mitochondrion;IEA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSTK https://www.ncbi.nlm.nih.gov/omim/?term=611310 http://www.informatics.jax.org/searchtool/Search.do?query=PSTK&submit=Quick%0D%14420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSTK rs2421154 0.581669 0 0 1 0 0 intronic intronic intronic PSTK PSTK ENSG00000179988 Na Na Na Na Na Na Het;T>C 375;19|15 Het;T>C 330;12|10 Hom;T>C 1137;0|33 N N - 10 124752128 124752128 C T snp UTR3 *1168G>A IKZF5 Ikzf5 ENSG00000095574 IKAROS family zinc finger 5 chr10:124750322-124768333 Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002] GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0051291;protein heterooligomerization;IMP GO:0005634;nucleus;IEA|GO:0043234;protein complex;IMP GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IMP|GO:0019904;protein domain specific binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IKZF5 https://www.uniprot.org/uniprot/Q9H5V7 https://www.ncbi.nlm.nih.gov/omim/?term=606238 http://www.informatics.jax.org/searchtool/Search.do?query=IKZF5&submit=Quick%0D%2251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKZF5 rs4980172 0.648762 0 0 1 0 0 UTR3 UTR3 UTR3 IKZF5(NM_001271840:c.*1168G>A) IKZF5(uc021qaj.2:c.*1168G>A,uc001lha.3:c.*1168G>A,uc031pxl.1:c.*1168G>A,uc031pxm.1:c.*1168G>A,uc031pxn.1:c.*1168G>A) ENSG00000095574(ENST00000368886:c.*1168G>A) Na Na Na Na Na Na Het;C>T 1446;47|61 Het;C>T 1028;44|42 Hom;C>T 2986;0|106 N N - 10 126692193 126692193 C T snp intronic CTBP2 Ctbp2 ENSG00000175029 C-terminal binding protein 2 chr10:126676421-126849739 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] Alzheimer's disease ; Celiac Disease|; Prostatic Neoplasms; prostate cancer; Tobacco Use Disorder; Hemoglobins Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization. TCF7L2 mutants don't bind CTBP GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0035563;positive regulation of chromatin binding;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048386;positive regulation of retinoic acid receptor signaling pathway;IMP|GO:0050872;white fat cell differentiation;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;ISS|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0097470;ribbon synapse;IEA GO:0003682;chromatin binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTBP2 https://www.ncbi.nlm.nih.gov/omim/?term=602619 http://www.informatics.jax.org/searchtool/Search.do?query=CTBP2&submit=Quick%0D%13622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP2 rs750599 0.423123 0 0 1 0 0 intronic intronic intronic CTBP2 CTBP2 ENSG00000175029 Na Na Na Na Na Na Het;C>T 193;3|8 Het;C>T 180;2|6 Hom;C>T 387;0|14 N N - 10 126721261 126721261 T C snp intronic CTBP2 Ctbp2 ENSG00000175029 C-terminal binding protein 2 chr10:126676421-126849739 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] Alzheimer's disease ; Celiac Disease|; Prostatic Neoplasms; prostate cancer; Tobacco Use Disorder; Hemoglobins Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization. TCF7L2 mutants don't bind CTBP GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0035563;positive regulation of chromatin binding;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048386;positive regulation of retinoic acid receptor signaling pathway;IMP|GO:0050872;white fat cell differentiation;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;ISS|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0097470;ribbon synapse;IEA GO:0003682;chromatin binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTBP2 https://www.ncbi.nlm.nih.gov/omim/?term=602619 http://www.informatics.jax.org/searchtool/Search.do?query=CTBP2&submit=Quick%0D%13622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP2 rs35060373 0.105831 0 0 1 0 0 intronic intronic intronic CTBP2 CTBP2 ENSG00000175029 Na Na Na Na Na Na Het;T>C 215;13|9 Het;T>C 131;11|5 Hom;T>C 464;0|14 N N - 10 126737234 126737234 C G snp intronic CTBP2 Ctbp2 ENSG00000175029 C-terminal binding protein 2 chr10:126676421-126849739 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] Alzheimer's disease ; Celiac Disease|; Prostatic Neoplasms; prostate cancer; Tobacco Use Disorder; Hemoglobins Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization. TCF7L2 mutants don't bind CTBP GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0035563;positive regulation of chromatin binding;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048386;positive regulation of retinoic acid receptor signaling pathway;IMP|GO:0050872;white fat cell differentiation;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;ISS|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0097470;ribbon synapse;IEA GO:0003682;chromatin binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTBP2 https://www.ncbi.nlm.nih.gov/omim/?term=602619 http://www.informatics.jax.org/searchtool/Search.do?query=CTBP2&submit=Quick%0D%13622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP2 rs12246653 0.0722843 0 0 1 0 0 intronic intronic intronic CTBP2 CTBP2 ENSG00000175029 Na Na Na Na Na Na Het;C>G 175;8|8 Het;C>G 191;7|7 Hom;C>G 351;0|11 N N - 10 126823364 126823375 CCCCCAGCCTTT C indel intronic CTBP2 Ctbp2 ENSG00000175029 C-terminal binding protein 2 chr10:126676421-126849739 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] Alzheimer's disease ; Celiac Disease|; Prostatic Neoplasms; prostate cancer; Tobacco Use Disorder; Hemoglobins Embryos homozygous for a gene-trapped allele die by E10 exhibiting a small size, axial truncations, a thin neural epithelium, a dilated pericardium, delayed fore- and midbrain development, and defects in heart morphogenesis, placental development and extraembryonic vascularization. TCF7L2 mutants don't bind CTBP GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0035563;positive regulation of chromatin binding;IEA|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048386;positive regulation of retinoic acid receptor signaling pathway;IMP|GO:0050872;white fat cell differentiation;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0017053;transcriptional repressor complex;ISS|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0097470;ribbon synapse;IEA GO:0003682;chromatin binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTBP2 https://www.ncbi.nlm.nih.gov/omim/?term=602619 http://www.informatics.jax.org/searchtool/Search.do?query=CTBP2&submit=Quick%0D%13622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP2 rs200740627 0.48742 0 0 1 0 0 intronic intronic intronic CTBP2 CTBP2 ENSG00000175029 Na Na Na Na Na Na Het;-CCCCAGCCTTT 119;4|4 Het;-CCCCAGCCTTT 83;2|3 Hom;-CCCCAGCCTTT 278;0|7 N N - 10 127584978 127584978 A G snp UTR5 -15585T>C DHX32 Dhx32 ENSG00000089876 DEAH-box helicase 32 (putative) chr10:127524906-127585005 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008] Waist Circumference; Coronary Artery Disease GO:0000398;mRNA splicing, via spliceosome;IBA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DHX32 https://www.uniprot.org/uniprot/Q7L7V1 https://www.ncbi.nlm.nih.gov/omim/?term=607960 http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32 rs5006357 0 0 0 1 0 0 upstream UTR5 UTR5 FANK1 DHX32(uc001ljg.1:c.-15585T>C) ENSG00000089876(ENST00000415732:c.-15585T>C) Na Na Na Na Na Na Het;A>G 53;1|2 Ref Hom;A>G 296;0|9 N N - 10 127585040 127585040 G A snp upstream DHX32 Dhx32 ENSG00000089876 DEAH-box helicase 32 (putative) chr10:127524906-127585005 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008] Waist Circumference; Coronary Artery Disease GO:0000398;mRNA splicing, via spliceosome;IBA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DHX32 https://www.uniprot.org/uniprot/Q7L7V1 https://www.ncbi.nlm.nih.gov/omim/?term=607960 http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32 rs5006358 0 0 0 1 0 0 upstream upstream upstream FANK1 DHX32,FANK1 ENSG00000089876,ENSG00000203780 Na Na Na Na Na Na Het;G>A 102;2|4 Ref Hom;G>A 541;0|13 N N - 10 127585090 127585090 C A snp upstream DHX32 Dhx32 ENSG00000089876 DEAH-box helicase 32 (putative) chr10:127524906-127585005 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008] Waist Circumference; Coronary Artery Disease GO:0000398;mRNA splicing, via spliceosome;IBA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA GO:0000166;nucleotide binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DHX32 https://www.uniprot.org/uniprot/Q7L7V1 https://www.ncbi.nlm.nih.gov/omim/?term=607960 http://www.informatics.jax.org/searchtool/Search.do?query=DHX32&submit=Quick%0D%2079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX32 rs74635147 0 0 0 1 0 0 upstream upstream upstream FANK1 DHX32,FANK1 ENSG00000089876,ENSG00000203780 Na Na Na Na Na Na Het;C>A 335;5|9 Het;C>A 485;10|11 Hom;C>A 692;1|15 N N - 10 127893900 127893901 TA T indel intronic ADAM12 Adam12 ENSG00000148848 ADAM metallopeptidase domain 12 chr10:127700950-128077024 This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014] radiographic knee osteoarthritis; Tobacco Use Disorder; Calcium; osteoarthritis; Alzheimer's disease; Alzheimer's disease Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. Invadopodia formation GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007520;myoblast fusion;TAS|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAM12 https://www.uniprot.org/uniprot/O43184 https://www.ncbi.nlm.nih.gov/omim/?term=602714 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM12&submit=Quick%0D%9171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM12 rs398097281 0.778155 0 0 1 0 0 intronic intronic intronic ADAM12 ADAM12 ENSG00000148848 Na Na Na Na Na Na Het;-A 160;3|11 Het;-A 171;2|10 Hom;-A 390;0|18 N N - 10 128829 128829 A G snp ncRNA_intronic IL9RP2 rs2928100 0.434904 0 0 1 0 0 intergenic intergenic ncRNA_intronic TUBB8(dist=33651),ZMYND11(dist=51576) TUBB8(dist=33651),ZMYND11(dist=51576) ENSG00000232420 Na Na Na Na Na Na Het;A>G 279;3|10 Het;A>G 40;5|3 Hom;A>G 274;0|10 N N - 10 128841570 128841570 T C snp intronic DOCK1 Dock1 ENSG00000150760 dedicator of cytokinesis 1 chr10:128593978-129250781 This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Alzheimer's disease ; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Asthma|Hypersensitivity; Stroke; Body Weight; Magnesium; Tobacco Use Disorder Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. Factors involved in megakaryocyte development and platelet production GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;TAS|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK1 https://www.uniprot.org/uniprot/Q14185 https://www.ncbi.nlm.nih.gov/omim/?term=601403 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK1&submit=Quick%0D%9348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK1 rs882052 0.35024 0 0 1 0 0 intronic intronic intronic DOCK1 DOCK1 ENSG00000150760 Na Na Na Na Na Na Het;T>C 110;7|5 Het;T>C 95;4|4 Hom;T>C 119;0|4 N N - 10 129245628 129245628 G A snp intronic DOCK1 Dock1 ENSG00000150760 dedicator of cytokinesis 1 chr10:128593978-129250781 This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Alzheimer's disease ; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Asthma|Hypersensitivity; Stroke; Body Weight; Magnesium; Tobacco Use Disorder Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. Factors involved in megakaryocyte development and platelet production GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;TAS|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK1 https://www.uniprot.org/uniprot/Q14185 https://www.ncbi.nlm.nih.gov/omim/?term=601403 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK1&submit=Quick%0D%9348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK1 rs869800 0.155551 0.1668 0.2106 1 0 0 intronic intronic intronic DOCK1 DOCK1 ENSG00000150760 Na Na Na Na Na Na Het;G>A 1457;70|62 Het;G>A 886;62|42 Hom;G>A 2487;2|94 N N - 10 129245684 129245684 G A snp nonsynonymous SNV G5377A A1793T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral DOCK1 Dock1 ENSG00000150760 dedicator of cytokinesis 1 chr10:128593978-129250781 This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Alzheimer's disease ; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Asthma|Hypersensitivity; Stroke; Body Weight; Magnesium; Tobacco Use Disorder Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. Factors involved in megakaryocyte development and platelet production GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;TAS|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK1 https://www.uniprot.org/uniprot/Q14185 https://www.ncbi.nlm.nih.gov/omim/?term=601403 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK1&submit=Quick%0D%9348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK1 rs869801 0.204673 0.2375 0.2566 0.08 1 12 exonic exonic exonic DOCK1 DOCK1 ENSG00000150760 nonsynonymous SNV nonsynonymous SNV unknown DOCK1:NM_001290223:exon51:c.G5440A:p.A1814T,DOCK1:NM_001380:exon51:c.G5377A:p.A1793T, DOCK1:uc001ljt.3:exon51:c.G5377A:p.A1793T,DOCK1:uc009yaq.3:exon23:c.G2375A:p.G792D,DOCK1:uc010qun.2:exon51:c.G5440A:p.A1814T, UNKNOWN Het;G>A 2516;113|119 Het;G>A 2059;102|96 Hom;G>A 4894;4|182 N N - 10 129917560 129917560 T C snp nonsynonymous SNV A311G N104S polar,hydrophilic,neutral polar,hydrophilic,neutral MKI67 Mki67 ENSG00000148773 marker of proliferation Ki-67 chr10:129894923-129924649 This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009] longevity; select biomarker traits; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; pharmacogenetic studies; Alzheimer's disease ; head and neck cancer; ovarian cancer; Coronary Disease|Coronary heart disease|Myocardial Infarction Mice carrying a reporter allele show expression in actively dividing cells. GO:0006259;DNA metabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0007088;regulation of mitotic nuclear division;IDA|GO:0008283;cell proliferation;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0030212;hyaluronan metabolic process;IEA|GO:0031100;animal organ regeneration;IEA|GO:0034605;cellular response to heat;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051983;regulation of chromosome segregation;IDA|GO:1902275;regulation of chromatin organization;ISS GO:0000775;chromosome, centromeric region;IEA|GO:0000793;condensed chromosome;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MKI67 https://www.uniprot.org/uniprot/P46013 https://www.ncbi.nlm.nih.gov/omim/?term=176741 http://www.informatics.jax.org/searchtool/Search.do?query=MKI67&submit=Quick%0D%9157ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MKI67 rs2071498 0.633986 0.6151 0.6476 0.31 4 13 exonic exonic exonic MKI67 MKI67 ENSG00000148773 nonsynonymous SNV nonsynonymous SNV unknown MKI67:NM_002417:exon5:c.A311G:p.N104S,MKI67:NM_001145966:exon5:c.A311G:p.N104S, MKI67:uc001lkf.3:exon5:c.A311G:p.N104S,MKI67:uc001lke.3:exon5:c.A311G:p.N104S,MKI67:uc009yav.1:exon2:c.A116G:p.N39S, UNKNOWN Het;T>C 855;67|43 Het;T>C 1249;60|60 Hom;T>C 3858;0|144 N N - 10 130815983 130815983 C T snp intergenic LINC01163 rs12220396 0.21865 0 0 1 0 0 intergenic intergenic intergenic LINC01163(dist=699993),MGMT(dist=449471) AK124226(dist=699993),MGMT(dist=449471) ENSG00000232985(dist=57657),ENSG00000225424(dist=260532) Na Na Na Na Na Na Het;C>T 1336;52|54 Het;C>T 1234;38|54 Hom;C>T 2394;1|84 N N - 10 131979 131979 C T snp ncRNA_intronic IL9RP2 rs7902749 0.204673 0 0 1 0 0 intergenic intergenic ncRNA_intronic TUBB8(dist=36801),ZMYND11(dist=48426) TUBB8(dist=36801),ZMYND11(dist=48426) ENSG00000232420 Na Na Na Na Na Na Het;C>T 557;13|17 Het;C>T 253;10|9 Hom;C>T 362;0|12 N N - 10 13271834 13271834 G A snp intronic UCMA Ucma ENSG00000165623 upper zone of growth plate and cartilage matrix associated chr10:13263767-13276334 This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015] Mice homozygous for a knock-out allele exhibit normal skeleton phenotype. GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0016235;aggresome;IEA|GO:0048471;perinuclear region of cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/UCMA http://www.informatics.jax.org/searchtool/Search.do?query=UCMA&submit=Quick%0D%11581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCMA rs4750320 0.492013 0 0 1 0 0 intronic intronic intronic UCMA UCMA ENSG00000165623 Na Na Na Na Na Na Het;G>A 292;12|10 Het;G>A 203;5|7 Hom;G>A 834;0|23 N N - 10 13275510 13275510 C G snp intronic UCMA Ucma ENSG00000165623 upper zone of growth plate and cartilage matrix associated chr10:13263767-13276334 This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015] Mice homozygous for a knock-out allele exhibit normal skeleton phenotype. GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0016235;aggresome;IEA|GO:0048471;perinuclear region of cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/UCMA http://www.informatics.jax.org/searchtool/Search.do?query=UCMA&submit=Quick%0D%11581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCMA rs7893239 0.344649 0.3097 0.3323 1 0 0 intronic intronic intronic UCMA UCMA ENSG00000165623 Na Na Na Na Na Na Het;C>G 952;43|42 Het;C>G 599;28|28 Hom;C>G 1160;0|26 N N - 10 13275553 13275553 T G snp synonymous SNV A205C R69R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) UCMA Ucma ENSG00000165623 upper zone of growth plate and cartilage matrix associated chr10:13263767-13276334 This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015] Mice homozygous for a knock-out allele exhibit normal skeleton phenotype. GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0016235;aggresome;IEA|GO:0048471;perinuclear region of cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/UCMA http://www.informatics.jax.org/searchtool/Search.do?query=UCMA&submit=Quick%0D%11581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCMA rs3829925 0.803714 0.8645 0.8711 1 0 0 exonic exonic exonic UCMA UCMA ENSG00000165623 synonymous SNV synonymous SNV unknown UCMA:NM_145314:exon3:c.A205C:p.R69R, UCMA:uc001imd.3:exon3:c.A205C:p.R69R, UNKNOWN Het;T>G 1209;64|54 Het;T>G 942;38|45 Hom;T>G 1694;0|63 N N - 10 132898037 132898037 C G snp intronic TCERG1L Tcerg1l ENSG00000176769 transcription elongation regulator 1 like chr10:132890654-133109984 Hypertrophy, Left Ventricular; Tobacco Use Disorder; Alzheimer's disease ; Diabetes Mellitus, Type 2; Stroke; Crohn Disease; ADHD http://www.genecards.org/index.php?path=/Search/keyword/TCERG1L http://www.informatics.jax.org/searchtool/Search.do?query=TCERG1L&submit=Quick%0D%13907ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCERG1L rs61862965 0.148762 0 0 1 0 0 intronic intronic intronic TCERG1L TCERG1L ENSG00000176769 Na Na Na Na Na Na Het;C>G 583;35|28 Ref Hom;C>G 1931;0|74 N N - 10 132903858 132903858 G A snp intronic TCERG1L Tcerg1l ENSG00000176769 transcription elongation regulator 1 like chr10:132890654-133109984 Hypertrophy, Left Ventricular; Tobacco Use Disorder; Alzheimer's disease ; Diabetes Mellitus, Type 2; Stroke; Crohn Disease; ADHD http://www.genecards.org/index.php?path=/Search/keyword/TCERG1L http://www.informatics.jax.org/searchtool/Search.do?query=TCERG1L&submit=Quick%0D%13907ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCERG1L rs58550564 0.144369 0 0 1 0 0 intronic intronic intronic TCERG1L TCERG1L ENSG00000176769 Na Na Na Na Na Na Het;G>A 438;12|15 Ref Hom;G>A 282;0|6 N N - 10 134091967 134091968 TA T indel intronic STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs397844962 0.367212 0 0 1 0 0 intronic intronic intronic STK32C STK32C ENSG00000165752 Na Na Na Na Na Na Het;-A 126;6|7 Ref Hom;-A 221;0|9 N N - 10 134091983 134091983 C T snp intronic STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs4310537 0.367412 0 0 1 0 0 intronic intronic intronic STK32C STK32C ENSG00000165752 Na Na Na Na Na Na Het;C>T 177;5|7 Ref Hom;C>T 222;0|9 N N - 10 134110776 134110776 G A snp intronic STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs80296132 0.0786741 0 0 1 0 0 intronic intronic intronic STK32C STK32C ENSG00000165752 Na Na Na Na Na Na Het;G>A 50;3|4 Ref Hom;G>A 60;0|3 N N - 10 134121606 134121606 A G snp upstream STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs866596131 0 0 0 1 0 0 upstream intronic intronic STK32C STK32C ENSG00000165752 Na Na Na Na Na Na Het;A>G 80;6|3 Ref Hom;A>G 197;0|5 N N - 10 134121611 134121611 C G snp upstream STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs868753160 0 0 0 1 0 0 upstream intronic intronic STK32C STK32C ENSG00000165752 Na Na Na Na Na Na Het;C>G 86;4|3 Ref Hom;C>G 197;0|5 N N - 10 134121669 134121669 G C snp upstream STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs12268135 0.204473 0 0 1 0 0 upstream intronic intronic STK32C STK32C ENSG00000165752 Na Na Na Na Na Na Het;G>C 67;3|4 Het;G>C 165;8|10 Hom;G>C 184;0|8 N N - 10 134143486 134143486 G GC indel intronic STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs11409148 0.375599 0 0 1 0 0 intergenic intronic intronic STK32C(dist=22009),LRRC27(dist=2128) STK32C ENSG00000165752 Na Na Na Na Na Na Het;+C 1276;41|47 Het;+C 1142;50|44 Hom;+C 3780;0|114 N N - 10 134143942 134143942 C T snp UTR3 *40G>A STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs1052281 0.376597 0 0.3609 1 0 0 intergenic intronic UTR3 STK32C(dist=22465),LRRC27(dist=1672) STK32C ENSG00000165752(ENST00000456004:c.*40G>A) Na Na Na Na Na Na Het;C>T 2444;201|125 Het;C>T 2848;139|136 Hom;C>T 7751;3|299 N N - 10 134143985 134143985 G T snp unknown STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs1132165 0.333267 0 0.3124 0.33 1 3 intergenic intronic exonic STK32C(dist=22508),LRRC27(dist=1629) STK32C ENSG00000165752 Na Na unknown Na Na UNKNOWN Het;G>T 2693;149|76 Ref Hom;G>T 7004;2|164 N N - 10 134143986 134143986 C T snp unknown STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs1132164 0.333267 0 0.3124 0.33 1 3 intergenic intronic exonic STK32C(dist=22509),LRRC27(dist=1628) STK32C ENSG00000165752 Na Na unknown Na Na UNKNOWN Het;C>T 2693;149|76 Ref Hom;C>T 7004;2|153 N N - 10 134144005 134144005 T C snp intronic STK32C Stk32c ENSG00000165752 serine/threonine kinase 32C chr10:134020996-134145351 The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 diabetes GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32C http://www.informatics.jax.org/searchtool/Search.do?query=STK32C&submit=Quick%0D%11617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32C rs7085852 0.253594 0 0.1887 1 0 0 intergenic intronic intronic STK32C(dist=22528),LRRC27(dist=1609) STK32C ENSG00000165752 Na Na Na Na Na Na Het;T>C 1331;116|55 Ref Hom;T>C 3478;2|119 N N - 10 134147172 134147172 G A snp synonymous SNV G144A P48P hydrophobic,neutral hydrophobic,neutral LRRC27 Lrrc27 ENSG00000148814 leucine rich repeat containing 27 chr10:134145614-134195010 GO:0007165;signal transduction;IBA GO:0005886;plasma membrane;IBA http://www.genecards.org/index.php?path=/Search/keyword/LRRC27 https://www.uniprot.org/uniprot/Q9C0I9 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC27&submit=Quick%0D%9161ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC27 rs12414718 0.0880591 0.0883 0.0677 1 0 0 exonic exonic exonic LRRC27 LRRC27 ENSG00000148814 synonymous SNV synonymous SNV unknown LRRC27:NM_001143757:exon2:c.G144A:p.P48P,LRRC27:NM_030626:exon2:c.G144A:p.P48P,LRRC27:NM_001143758:exon2:c.G144A:p.P48P,LRRC27:NM_001143759:exon2:c.G144A:p.P48P, LRRC27:uc010quw.1:exon2:c.G144A:p.P48P,LRRC27:uc010quv.1:exon2:c.G144A:p.P48P,LRRC27:uc001llf.2:exon2:c.G144A:p.P48P,LRRC27:uc001lli.2:exon2:c.G144A:p.P48P, UNKNOWN Het;G>A 281;22|16 Ref Hom;G>A 802;0|28 N N - 10 134180354 134180354 G A snp nonsynonymous SNV G1040A R347Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral LRRC27 Lrrc27 ENSG00000148814 leucine rich repeat containing 27 chr10:134145614-134195010 GO:0007165;signal transduction;IBA GO:0005886;plasma membrane;IBA http://www.genecards.org/index.php?path=/Search/keyword/LRRC27 https://www.uniprot.org/uniprot/Q9C0I9 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC27&submit=Quick%0D%9161ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC27 rs45513097 0.0934505 0 0.0918 1 0 0 intronic exonic exonic LRRC27 LRRC27 ENSG00000148814 Na nonsynonymous SNV unknown Na LRRC27:uc001llk.4:exon10:c.G1040A:p.R347Q, UNKNOWN Het;G>A 1794;77|81 Ref Hom;G>A 4352;0|166 N N - 10 134219045 134219045 C T snp synonymous SNV C1041T P347P hydrophobic,neutral hydrophobic,neutral PWWP2B Pwwp2b ENSG00000171813 PWWP domain containing 2B chr10:134210672-134231367 GO:0005654;nucleoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PWWP2B http://www.informatics.jax.org/searchtool/Search.do?query=PWWP2B&submit=Quick%0D%13016ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PWWP2B rs11146364 0.163738 0.1062 0.1233 1 0 0 exonic exonic exonic PWWP2B PWWP2B ENSG00000171813 synonymous SNV synonymous SNV unknown PWWP2B:NM_138499:exon2:c.C1041T:p.P347P,PWWP2B:NM_001098637:exon2:c.C1041T:p.P347P, PWWP2B:uc009ybe.3:exon2:c.C1041T:p.P347P,PWWP2B:uc001lll.4:exon2:c.C1041T:p.P347P, UNKNOWN Het;C>T 3371;79|91 Ref Hom;C>T 5709;0|164 N N - 10 134627593 134627593 G A snp intronic CFAP46 rs11146529 0.724441 0 0 1 0 0 intronic intronic intronic CFAP46 TTC40 ENSG00000171811 Na Na Na Na Na Na Het;G>A 534;9|19 Het;G>A 169;16|10 Hom;G>A 795;0|29 N N - 10 134627882 134627882 G T snp intronic CFAP46 rs7070307 0.733826 0 0 1 0 0 intronic intronic intronic CFAP46 TTC40 ENSG00000171811 Na Na Na Na Na Na Het;G>T 461;12|16 Het;G>T 242;11|10 Hom;G>T 459;0|14 N N - 10 134898742 134898742 C G snp downstream ADGRA1-AS1 rs3827692 0.46865 0 0 1 0 0 downstream intronic intronic ADGRA1-AS1 GPR123 ENSG00000197177 Na Na Na Na Na Na Het;C>G 683;28|27 Ref Hom;C>G 696;0|23 N N - 10 134898842 134898842 T C snp ncRNA_exonic ADGRA1-AS1 rs3827691 0.659944 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic ADGRA1-AS1 GPR123 ENSG00000256925 Na Na Na Na Na Na Het;T>C 1069;84|53 Het;T>C 2630;72|71 Hom;T>C 3329;0|118 N N - 10 134899928 134899928 A G snp ncRNA_exonic ENSG00000203268 rs11812211 0.404952 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic ADGRA1-AS1 GPR123 ENSG00000203268 Na Na Na Na Na Na Het;A>G 530;18|18 Ref Hom;A>G 407;0|12 N N - 10 134902314 134902314 A G snp UTR5 -100A>G ADGRA1 Adgra1 rs10745302 0.705871 0 0 1 0 0 UTR5 UTR5 UTR5 ADGRA1(NM_001083909:c.-100A>G) GPR123(uc001llx.4:c.-100A>G) ENSG00000197177(ENST00000392607:c.-100A>G) Na Na Na Na Na Na Het;A>G 198;11|9 Het;A>G 114;4|6 Hom;A>G 459;0|16 N N - 10 134902396 134902396 C G snp nonsynonymous SNV C1615G R539G polar,hydrophilic,charged(+) aliphatic,neutral GPR123 rs10776692 0.618211 0.5579 0.6300 0.12 1 8 UTR5 exonic exonic ADGRA1(NM_001083909:c.-18C>G) GPR123 ENSG00000197177 Na nonsynonymous SNV unknown Na GPR123:uc001llw.3:exon9:c.C1615G:p.R539G, UNKNOWN Het;C>G 421;25|23 Het;C>G 625;23|31 Hom;C>G 2416;0|54 N N - 10 134916121 134916121 T A snp intronic ADGRA1 Adgra1 rs7918862 0.624401 0 0 1 0 0 intronic intronic intronic ADGRA1 GPR123 ENSG00000197177 Na Na Na Na Na Na Het;T>A 484;17|20 Het;T>A 164;7|6 Hom;T>A 710;0|23 N N - 10 135053123 135053123 A G snp intronic VENTX ENSG00000151650 VENT homeobox chr10:135050908-135055433 This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008] GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VENTX https://www.uniprot.org/uniprot/O95231 https://www.ncbi.nlm.nih.gov/omim/?term=607158 http://www.informatics.jax.org/searchtool/Search.do?query=VENTX&submit=Quick%0D%9448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VENTX rs880340 0.524561 0 0 1 0 0 intronic intronic intronic VENTX VENTX ENSG00000151650 Na Na Na Na Na Na Het;A>G 553;20|23 Ref Hom;A>G 1121;0|42 N N - 10 135054523 135054523 G A snp UTR3 *713G>A VENTX ENSG00000151650 VENT homeobox chr10:135050908-135055433 This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008] GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VENTX https://www.uniprot.org/uniprot/O95231 https://www.ncbi.nlm.nih.gov/omim/?term=607158 http://www.informatics.jax.org/searchtool/Search.do?query=VENTX&submit=Quick%0D%9448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VENTX rs9419037 0.11861 0 0 1 0 0 UTR3 UTR3 UTR3 VENTX(NM_014468:c.*713G>A) VENTX(uc010quy.1:c.*713G>A) ENSG00000151650(ENST00000325980:c.*713G>A) Na Na Na Na Na Na Het;G>A 592;18|22 Ref Hom;G>A 932;0|33 N N - 10 135054904 135054904 T C snp UTR3 *1094T>C VENTX ENSG00000151650 VENT homeobox chr10:135050908-135055433 This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008] GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VENTX https://www.uniprot.org/uniprot/O95231 https://www.ncbi.nlm.nih.gov/omim/?term=607158 http://www.informatics.jax.org/searchtool/Search.do?query=VENTX&submit=Quick%0D%9448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VENTX rs2980729 0.116214 0 0 1 0 0 UTR3 UTR3 UTR3 VENTX(NM_014468:c.*1094T>C) VENTX(uc010quy.1:c.*1094T>C) ENSG00000151650(ENST00000325980:c.*1094T>C) Na Na Na Na Na Na Het;T>C 157;18|9 Ref Hom;T>C 1276;0|48 N N - 10 135179363 135179363 G C snp intronic ECHS1 Echs1 ENSG00000127884 enoyl-CoA hydratase, short chain 1 chr10:135175984-135187193 The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Beta oxidation of butanoyl-CoA to acetyl-CoA GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004300;enoyl-CoA hydratase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ECHS1 https://www.uniprot.org/uniprot/P30084 https://hpo.jax.org/app/browse/search?q=ECHS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602292 http://www.informatics.jax.org/searchtool/Search.do?query=ECHS1&submit=Quick%0D%6075ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ECHS1 rs56055735 0.316693 0 0 1 0 0 intronic intronic intronic ECHS1 ECHS1 ENSG00000127884 Na Na Na Na Na Na Het;G>C 69;5|3 Ref Hom;G>C 282;0|8 N N - 10 135267445 135267445 T C snp ncRNA_exonic SCART1 rs2253522 0.741014 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic SCART1 SPRN(dist=29324),LOC619207(dist=2296) ENSG00000214279 Na Na Na Na Na Na Het;T>C 1031;45|50 Het;T>C 819;35|37 Hom;T>C 2047;0|76 N N - 10 135267738 135267738 T C snp ncRNA_intronic SCART1 rs2253529 0.734225 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic SCART1 SPRN(dist=29617),LOC619207(dist=2003) ENSG00000214279 Na Na Na Na Na Na Het;T>C 65;3|3 Het;T>C 61;4|3 Hom;T>C 167;0|6 N N - 10 135271598 135271598 T C snp ncRNA_exonic SCART1 rs943980 0.811701 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic SCART1 LOC619207(uc001lnh.1:c.-935T>C) ENSG00000214279 Na Na Na Na Na Na Het;T>C 2858;112|118 Het;T>C 1737;114|80 Hom;T>C 5928;0|207 N N - 10 135271789 135271789 C T snp ncRNA_exonic SCART1 rs2480245 0.810903 0 0.9062 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic SCART1 LOC619207(uc001lnh.1:c.-744C>T) ENSG00000214279 Na Na Na Na Na Na Het;C>T 2582;109|109 Het;C>T 1893;87|84 Hom;C>T 5495;0|199 N N - 10 135273463 135273463 C G snp nonsynonymous SNV C771G D257E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) LOC619207 rs731947 0.721645 0 0.8652 1 0 0 ncRNA_exonic exonic ncRNA_exonic SCART1 LOC619207 ENSG00000214279 Na nonsynonymous SNV Na Na LOC619207:uc001lnh.1:exon4:c.C771G:p.D257E, Na Het;C>G 853;47|33 Het;C>G 1143;39|43 Hom;C>G 2213;0|77 N N - 10 135278193 135278193 A G snp nonsynonymous SNV A1066G M356V hydrophobic,neutral aliphatic,hydrophobic,neutral LOC619207 rs2492654 0.805312 0 0.8948 1 0 0 ncRNA_exonic exonic ncRNA_exonic SCART1 LOC619207 ENSG00000214279 Na nonsynonymous SNV Na Na LOC619207:uc001lnh.1:exon5:c.A1066G:p.M356V, Na Het;A>G 1470;70|67 Het;A>G 1731;88|82 Hom;A>G 4616;2|175 N N - 10 135279810 135279810 T G snp ncRNA_exonic SCART1 rs2243909 0.703275 0 0.8139 1 0 0 ncRNA_exonic intergenic ncRNA_exonic SCART1 LOC619207(dist=1132),NONE(dist=NONE) ENSG00000214279 Na Na Na Na Na Na Het;T>G 1256;95|56 Het;T>G 1645;91|81 Hom;T>G 4150;1|148 N N - 10 135280765 135280765 C T snp ncRNA_exonic SCART1 rs2246634 0.811901 0 0.8929 1 0 0 ncRNA_exonic intergenic ncRNA_exonic SCART1 LOC619207(dist=2087),NONE(dist=NONE) ENSG00000214279 Na Na Na Na Na Na Het;C>T 1799;85|81 Het;C>T 1673;101|78 Hom;C>T 3678;0|139 N N - 10 135383366 135383366 C T snp ncRNA_exonic SPRNP1 rs11511241 0.492212 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream SPRNP1 SPRNP1 ENSG00000171772,ENSG00000203772 Na Na Na Na Na Na Het;C>T 2412;71|105 Ref Hom;C>T 2512;7|105 N N - 10 13749228 13749228 G A snp intronic FRMD4A Frmd4a ENSG00000151474 FERM domain containing 4A chr10:13685706-14504141 This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Tobacco Use Disorder; RR interval (heart rate); Alzheimer's disease GO:0090162;establishment of epithelial cell polarity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA GO:0030674;protein binding, bridging;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRMD4A https://www.uniprot.org/uniprot/Q9P2Q2 https://hpo.jax.org/app/browse/search?q=FRMD4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616305 http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4A&submit=Quick%0D%9426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4A rs11258541 0.357628 0 0 1 0 0 intronic intronic intronic FRMD4A FRMD4A ENSG00000151474 Na Na Na Na Na Na Het;G>A 32;4|2 Ref Hom;G>A 144;0|6 N N - 10 13782110 13782110 A C snp ncRNA_intronic AL157392.2 rs11258567 0.519569 0 0 1 0 0 intronic intronic ncRNA_intronic FRMD4A FRMD4A ENSG00000234091 Na Na Na Na Na Na Het;A>C 635;11|20 Het;A>C 414;14|15 Hom;A>C 1089;0|24 N N - 10 13782605 13782605 G A snp ncRNA_intronic AL157392.2 rs6602679 0.771965 0.6504 0.6745 1 0 0 intronic intronic ncRNA_intronic FRMD4A FRMD4A ENSG00000234091 Na Na Na Na Na Na Het;G>A 441;22|22 Het;G>A 312;30|16 Hom;G>A 1145;0|42 N N - 10 13950781 13950781 C T snp intronic FRMD4A Frmd4a ENSG00000151474 FERM domain containing 4A chr10:13685706-14504141 This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Tobacco Use Disorder; RR interval (heart rate); Alzheimer's disease GO:0090162;establishment of epithelial cell polarity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA GO:0030674;protein binding, bridging;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRMD4A https://www.uniprot.org/uniprot/Q9P2Q2 https://hpo.jax.org/app/browse/search?q=FRMD4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616305 http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4A&submit=Quick%0D%9426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4A rs2698132 0.673722 0 0 1 0 0 intronic intronic intronic FRMD4A FRMD4A ENSG00000151474 Na Na Na Na Na Na Het;C>T 91;6|4 Het;C>T 249;8|11 Hom;C>T 619;0|22 N N - 10 14766197 14766197 T C snp intronic FAM107B Fam107b ENSG00000065809 family with sequence similarity 107 member B chr10:14560556-14816896 Cholesterol; Hip; Glomerular Filtration Rate; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease ; Blood Pressure; Creatinine; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit impaired hearing. http://www.genecards.org/index.php?path=/Search/keyword/FAM107B https://www.uniprot.org/uniprot/Q9H098 http://www.informatics.jax.org/searchtool/Search.do?query=FAM107B&submit=Quick%0D%1193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM107B rs2609824 0.499401 0 0 1 0 0 intronic intronic intronic FAM107B FAM107B ENSG00000065809 Na Na Na Na Na Na Het;T>C 122;2|4 Ref Hom;T>C 107;0|4 N N - 10 15008493 15008493 A C snp nonsynonymous SNV A26C K9T polar,hydrophilic,charged(+) polar,hydrophilic,neutral MEIG1 Meig1 ENSG00000197889 meiosis/spermiogenesis associated 1 chr10:15001438-15030049 Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IBA http://www.genecards.org/index.php?path=/Search/keyword/MEIG1 https://www.ncbi.nlm.nih.gov/omim/?term=614174 http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1 rs4750568 0.611222 0.6532 0.6597 0.67 8 12 exonic exonic exonic MEIG1 MEIG1 ENSG00000197889 nonsynonymous SNV nonsynonymous SNV unknown MEIG1:NM_001080836:exon2:c.A26C:p.K9T, MEIG1:uc009xjk.1:exon2:c.A26C:p.K9T, UNKNOWN Het;A>C 1242;57|53 Het;A>C 2151;64|95 Hom;A>C 3980;0|143 N N - 10 15014369 15014369 C A snp intronic MEIG1 Meig1 ENSG00000197889 meiosis/spermiogenesis associated 1 chr10:15001438-15030049 Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IBA http://www.genecards.org/index.php?path=/Search/keyword/MEIG1 https://www.ncbi.nlm.nih.gov/omim/?term=614174 http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1 rs1935401 0.63758 0 0 1 0 0 intronic intronic intronic MEIG1 DCLRE1C,MEIG1 ENSG00000197889 Na Na Na Na Na Na Het;C>A 109;1|4 Het;C>A 58;5|3 Hom;C>A 380;0|11 N N - 10 15014418 15014418 C G snp intronic MEIG1 Meig1 ENSG00000197889 meiosis/spermiogenesis associated 1 chr10:15001438-15030049 Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IBA http://www.genecards.org/index.php?path=/Search/keyword/MEIG1 https://www.ncbi.nlm.nih.gov/omim/?term=614174 http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1 rs1935400 0.63758 0 0 1 0 0 intronic intronic intronic MEIG1 DCLRE1C,MEIG1 ENSG00000197889 Na Na Na Na Na Na Het;C>G 263;5|11 Het;C>G 159;8|6 Hom;C>G 834;0|27 N N - 10 15014440 15014440 A G snp intronic MEIG1 Meig1 ENSG00000197889 meiosis/spermiogenesis associated 1 chr10:15001438-15030049 Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IBA http://www.genecards.org/index.php?path=/Search/keyword/MEIG1 https://www.ncbi.nlm.nih.gov/omim/?term=614174 http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1 rs1935399 0.639577 0 0 1 0 0 intronic intronic intronic MEIG1 DCLRE1C,MEIG1 ENSG00000197889 Na Na Na Na Na Na Het;A>G 441;6|16 Het;A>G 310;8|11 Hom;A>G 1638;0|52 N N - 10 16866373 16866373 T C snp UTR3 *601A>G CUBN Cubn rs780635 0.429313 0 0 1 0 0 UTR3 UTR3 UTR3 CUBN(NM_001081:c.*601A>G) CUBN(uc001ioo.3:c.*601A>G) ENSG00000107611(ENST00000377833:c.*601A>G) Na Na Na Na Na Na Het;T>C 413;19|15 Het;T>C 360;12|14 Hom;T>C 929;0|33 N N - 10 17146652 17146652 C A snp intronic CUBN Cubn rs7068549 0.364018 0.3185 0.3303 1 0 0 intronic intronic intronic CUBN CUBN ENSG00000107611 Na Na Na Na Na Na Het;C>A 337;18|14 Het;C>A 513;14|18 Hom;C>A 705;0|18 N N - 10 17271400 17271400 G C snp ncRNA_exonic VIM-AS1 rs3758410 0.414936 0.3890 0.4241 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic VIM-AS1 BC078172 ENSG00000229124 Na Na Na Na Na Na Het;G>C 1046;67|46 Het;G>C 925;53|48 Hom;G>C 2792;0|96 N N - 10 17357756 17357756 A G snp intergenic VIM Vim ENSG00000026025 vimentin chr10:17270258-17279592 This gene encodes a member of the intermediate filament family. Intermediate filamentents, along with microtubules and actin microfilaments, make up the cytoskeleton. The protein encoded by this gene is responsible for maintaining cell shape, integrity of the cytoplasm, and stabilizing cytoskeletal interactions. It is also involved in the immune response, and controls the transport of low-density lipoprotein (LDL)-derived cholesterol from a lysosome to the site of esterification. It functions as an organizer of a number of critical proteins involved in attachment, migration, and cell signaling. Mutations in this gene causes a dominant, pulverulent cataract.[provided by RefSeq, Jun 2009] Aging/ Telomere Length; cognitive trait; Bulimia; Forced Expiratory Volume; Forced Vital Capacity Homozygous null mutants exhibit impaired performance in motor coordination tests; cerebellum shows underdeveloped/abnormal Bergman glia and stunted, poorly branched Purkinje cells. Mutants are unable to survive experimental 75% reduction of kidney mass. Interleukin-4 and 13 signaling GO:0006928;movement of cell or subcellular component;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0014002;astrocyte development;IEA|GO:0016032;viral process;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045103;intermediate filament-based process;IEA|GO:0045109;intermediate filament organization;IEA|GO:0060020;Bergmann glial cell differentiation;IEA|GO:0060395;SMAD protein signal transduction;IEA|GO:0070307;lens fiber cell development;IEA GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0031252;cell leading edge;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0001948;glycoprotein binding;IPI|GO:0003725;double-stranded RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IDA|GO:0005212;structural constituent of eye lens;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042802;identical protein binding;IPI|GO:0097110;scaffold protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/VIM https://www.uniprot.org/uniprot/P08670 https://hpo.jax.org/app/browse/search?q=VIM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=193060 http://www.informatics.jax.org/searchtool/Search.do?query=VIM&submit=Quick%0D%707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VIM rs1055986 0.808906 0 0 1 0 0 intergenic intergenic intergenic VIM(dist=78164),ST8SIA6(dist=4920) VIM(dist=78164),ST8SIA6(dist=4920) ENSG00000026025(dist=78164),ENSG00000148488(dist=2626) Na Na Na Na Na Na Het;A>G 1808;110|82 Het;A>G 3752;144|167 Hom;A>G 9113;0|340 N N - 10 17685485 17685485 G A snp ncRNA_exonic STAM-AS1 rs12414802 0.0559105 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic STAM-AS1 STAM ENSG00000260589 Na Na Na Na Na Na Het;G>A 2521;87|107 Het;G>A 1143;86|55 Hom;G>A 3991;2|147 N N - 10 17702640 17702640 C T snp intronic STAM Stam ENSG00000136738 signal transducing adaptor molecule chr10:17686124-17757913 This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] Alzheimer's disease Mice homozygous for a targeted null mutation exhibit progressive growth retardation, priapism, male infertility, degeneration of hippocapal CA3 pyramidal neurons and premature death, but exhibit normal lymphocyte development, proliferation and responses. Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0016579;protein deubiquitination;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0061024;membrane organization;TAS|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0033565;ESCRT-0 complex;TAS GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STAM https://www.uniprot.org/uniprot/Q92783 https://www.ncbi.nlm.nih.gov/omim/?term=601899 http://www.informatics.jax.org/searchtool/Search.do?query=STAM&submit=Quick%0D%7394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAM rs10795500 0.205871 0 0 1 0 0 intronic intronic intronic STAM STAM ENSG00000136738 Na Na Na Na Na Na Het;C>T 204;7|8 Het;C>T 214;2|7 Hom;C>T 179;0|6 N N - 10 17747812 17747812 A G snp intronic STAM Stam ENSG00000136738 signal transducing adaptor molecule chr10:17686124-17757913 This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] Alzheimer's disease Mice homozygous for a targeted null mutation exhibit progressive growth retardation, priapism, male infertility, degeneration of hippocapal CA3 pyramidal neurons and premature death, but exhibit normal lymphocyte development, proliferation and responses. Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0016579;protein deubiquitination;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0061024;membrane organization;TAS|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0033565;ESCRT-0 complex;TAS GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STAM https://www.uniprot.org/uniprot/Q92783 https://www.ncbi.nlm.nih.gov/omim/?term=601899 http://www.informatics.jax.org/searchtool/Search.do?query=STAM&submit=Quick%0D%7394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAM rs10904996 0.1877 0 0 1 0 0 intronic intronic intronic STAM STAM ENSG00000136738 Na Na Na Na Na Na Het;A>G 784;32|30 Het;A>G 675;29|28 Hom;A>G 1562;0|50 N N - 10 18254317 18254317 A G snp intronic SLC39A12 Slc39a12 ENSG00000148482 solute carrier family 39 member 12 chr10:18240768-18332221 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Blood Pressure; Triglycerides; Waist Circumference; Lipids; Inflammatory Bowel Diseases; Hypertension; Body Height; Clozapine GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0007165;signal transduction;IBA|GO:0010975;regulation of neuron projection development;IEA|GO:0030001;metal ion transport;IEA|GO:0031113;regulation of microtubule polymerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1903561;extracellular vesicle;IDA GO:0005385;zinc ion transmembrane transporter activity;IBA|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A12 https://www.uniprot.org/uniprot/Q504Y0 https://www.ncbi.nlm.nih.gov/omim/?term=608734 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A12&submit=Quick%0D%9126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A12 rs483822 0.754193 0 0 1 0 0 intronic intronic intronic SLC39A12 SLC39A12 ENSG00000148482 Na Na Na Na Na Na Het;A>G 90;4|4 Het;A>G 186;7|7 Hom;A>G 327;0|11 N N - 10 18266783 18266783 G T snp intronic SLC39A12 Slc39a12 ENSG00000148482 solute carrier family 39 member 12 chr10:18240768-18332221 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Blood Pressure; Triglycerides; Waist Circumference; Lipids; Inflammatory Bowel Diseases; Hypertension; Body Height; Clozapine GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0007165;signal transduction;IBA|GO:0010975;regulation of neuron projection development;IEA|GO:0030001;metal ion transport;IEA|GO:0031113;regulation of microtubule polymerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1903561;extracellular vesicle;IDA GO:0005385;zinc ion transmembrane transporter activity;IBA|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A12 https://www.uniprot.org/uniprot/Q504Y0 https://www.ncbi.nlm.nih.gov/omim/?term=608734 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A12&submit=Quick%0D%9126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A12 rs1926740 0.439696 0.4255 0.4697 1 0 0 intronic intronic intronic SLC39A12 SLC39A12 ENSG00000148482 Na Na Na Na Na Na Het;G>T 173;9|8 Het;G>T 341;15|12 Hom;G>T 599;0|20 N N - 10 18266989 18266989 G A snp nonsynonymous SNV G910A V304I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC39A12 Slc39a12 ENSG00000148482 solute carrier family 39 member 12 chr10:18240768-18332221 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Blood Pressure; Triglycerides; Waist Circumference; Lipids; Inflammatory Bowel Diseases; Hypertension; Body Height; Clozapine GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0007165;signal transduction;IBA|GO:0010975;regulation of neuron projection development;IEA|GO:0030001;metal ion transport;IEA|GO:0031113;regulation of microtubule polymerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1903561;extracellular vesicle;IDA GO:0005385;zinc ion transmembrane transporter activity;IBA|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A12 https://www.uniprot.org/uniprot/Q504Y0 https://www.ncbi.nlm.nih.gov/omim/?term=608734 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A12&submit=Quick%0D%9126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A12 rs2478568 0.664736 0.6296 0.6587 0.08 1 13 exonic exonic exonic SLC39A12 SLC39A12 ENSG00000148482 nonsynonymous SNV nonsynonymous SNV unknown SLC39A12:NM_001145195:exon5:c.G910A:p.V304I,SLC39A12:NM_152725:exon5:c.G910A:p.V304I,SLC39A12:NM_001282734:exon4:c.G508A:p.V170I,SLC39A12:NM_001282733:exon5:c.G910A:p.V304I, SLC39A12:uc001ipp.2:exon5:c.G910A:p.V304I,SLC39A12:uc010qck.1:exon4:c.G508A:p.V170I,SLC39A12:uc001ipn.2:exon5:c.G910A:p.V304I,SLC39A12:uc001ipo.2:exon5:c.G910A:p.V304I, UNKNOWN Het;G>A 847;30|39 Het;G>A 806;31|37 Hom;G>A 2358;0|89 N N - 10 18267096 18267096 G A snp intronic SLC39A12 Slc39a12 ENSG00000148482 solute carrier family 39 member 12 chr10:18240768-18332221 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Blood Pressure; Triglycerides; Waist Circumference; Lipids; Inflammatory Bowel Diseases; Hypertension; Body Height; Clozapine GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0007165;signal transduction;IBA|GO:0010975;regulation of neuron projection development;IEA|GO:0030001;metal ion transport;IEA|GO:0031113;regulation of microtubule polymerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1903561;extracellular vesicle;IDA GO:0005385;zinc ion transmembrane transporter activity;IBA|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A12 https://www.uniprot.org/uniprot/Q504Y0 https://www.ncbi.nlm.nih.gov/omim/?term=608734 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A12&submit=Quick%0D%9126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A12 rs2437260 0.495407 0 0 1 0 0 intronic intronic intronic SLC39A12 SLC39A12 ENSG00000148482 Na Na Na Na Na Na Het;G>A 242;6|8 Het;G>A 148;3|6 Hom;G>A 405;0|12 N N - 10 18270422 18270422 G A snp intronic SLC39A12 Slc39a12 ENSG00000148482 solute carrier family 39 member 12 chr10:18240768-18332221 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] Tobacco Use Disorder; Alzheimer's disease ; prostate cancer; Blood Pressure; Triglycerides; Waist Circumference; Lipids; Inflammatory Bowel Diseases; Hypertension; Body Height; Clozapine GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0007165;signal transduction;IBA|GO:0010975;regulation of neuron projection development;IEA|GO:0030001;metal ion transport;IEA|GO:0031113;regulation of microtubule polymerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1903561;extracellular vesicle;IDA GO:0005385;zinc ion transmembrane transporter activity;IBA|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A12 https://www.uniprot.org/uniprot/Q504Y0 https://www.ncbi.nlm.nih.gov/omim/?term=608734 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A12&submit=Quick%0D%9126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A12 rs1926739 0.495607 0.4309 0.5052 1 0 0 intronic intronic intronic SLC39A12 SLC39A12 ENSG00000148482 Na Na Na Na Na Na Het;G>A 879;44|39 Het;G>A 926;48|45 Hom;G>A 2935;0|107 N N - 10 18659816 18659816 C A snp intronic CACNB2 Cacnb2 ENSG00000165995 calcium voltage-gated channel auxiliary subunit beta 2 chr10:18429606-18830798 This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] Blood Pressure; Hypertension; Echocardiography; systolic blood pressure; C-Reactive Protein; Tobacco Use Disorder; Alcoholism; Lipids; Diastolic blood pressure; Migraine without Aura; Narcolepsy; hypertension; Alzheimer's disease ; protein quantitative trait loci; Heart Rate; Lipoproteins, VLDL; Stroke; smoking cessation; quantitative traits Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007528;neuromuscular junction development;TAS|GO:0007601;visual perception;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0061337;cardiac conduction;TAS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;ISS|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP|GO:1901385;regulation of voltage-gated calcium channel activity;IBA|GO:1901843;positive regulation of high voltage-gated calcium channel activity;ISS|GO:1904879;positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;ISS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0042383;sarcolemma;IEA|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0051015;actin filament binding;ISS|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNB2 https://hpo.jax.org/app/browse/search?q=CACNB2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600003 http://www.informatics.jax.org/searchtool/Search.do?query=CACNB2&submit=Quick%0D%11672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB2 rs10741039 0.601837 0 0 1 0 0 intronic intronic intronic CACNB2 CACNB2 ENSG00000165995 Na Na Na Na Na Na Het;C>A 52;8|4 Het;C>A 171;3|9 Hom;C>A 395;0|14 N N - 10 18659885 18659885 A C snp intronic CACNB2 Cacnb2 ENSG00000165995 calcium voltage-gated channel auxiliary subunit beta 2 chr10:18429606-18830798 This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] Blood Pressure; Hypertension; Echocardiography; systolic blood pressure; C-Reactive Protein; Tobacco Use Disorder; Alcoholism; Lipids; Diastolic blood pressure; Migraine without Aura; Narcolepsy; hypertension; Alzheimer's disease ; protein quantitative trait loci; Heart Rate; Lipoproteins, VLDL; Stroke; smoking cessation; quantitative traits Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007528;neuromuscular junction development;TAS|GO:0007601;visual perception;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0061337;cardiac conduction;TAS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;ISS|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP|GO:1901385;regulation of voltage-gated calcium channel activity;IBA|GO:1901843;positive regulation of high voltage-gated calcium channel activity;ISS|GO:1904879;positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;ISS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0042383;sarcolemma;IEA|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0051015;actin filament binding;ISS|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNB2 https://hpo.jax.org/app/browse/search?q=CACNB2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600003 http://www.informatics.jax.org/searchtool/Search.do?query=CACNB2&submit=Quick%0D%11672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB2 rs10741040 0.360623 0 0 1 0 0 intronic intronic intronic CACNB2 CACNB2 ENSG00000165995 Na Na Na Na Na Na Het;A>C 124;15|6 Het;A>C 258;6|14 Hom;A>C 825;0|31 N N - 10 19571941 19571941 A G snp intronic MALRD1 Malrd1 ENSG00000204740 MAM and LDL receptor class A domain containing 1 chr10:19492779-20079330 Diabetes Mellitus; Albuminuria; Tobacco Use Disorder; Hypertension; Memory; Mental Competency; Heart Failure; Spondylitis, Ankylosing; Hemoglobin A, Glycosylated; Alzheimer's disease GO:0042632;cholesterol homeostasis;IEA|GO:0070858;negative regulation of bile acid biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/MALRD1 http://www.informatics.jax.org/searchtool/Search.do?query=MALRD1&submit=Quick%0D%17395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MALRD1 rs2499066 0.473043 0 0.4241 1 0 0 intronic intergenic intronic MALRD1 DQ600701(dist=323233),C10orf112(dist=206082) ENSG00000204740 Na Na Na Na Na Na Het;A>G 941;46|38 Het;A>G 783;51|36 Hom;A>G 2024;0|71 N N - 10 20290956 20290956 T A snp intronic PLXDC2 Plxdc2 ENSG00000120594 plexin domain containing 2 chr10:20105168-20578785 Alzheimer's disease ; Blood Cells; Heart Diseases; Body Mass Index; Coronary Artery Disease; Triglycerides; Vascular Diseases; Chronic renal failure|Kidney Failure, Chronic; Tunica Media; Echocardiography; Heart Failure; Lipoproteins, LDL; Monocytes; Tobacco Use Disorder; Antidepressive Agents; Neutrophils; monocyte chemoattractant protein 1 (66-77); Glaucoma, Open-Angle Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLXDC2 https://www.uniprot.org/uniprot/Q6UX71 https://www.ncbi.nlm.nih.gov/omim/?term=606827 http://www.informatics.jax.org/searchtool/Search.do?query=PLXDC2&submit=Quick%0D%5221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXDC2 rs1409344 0.433906 0.4599 0.5100 1 0 0 intronic intronic intronic PLXDC2 PLXDC2 ENSG00000120594 Na Na Na Na Na Na Het;T>A 776;23|29 Het;T>A 312;11|14 Hom;T>A 1032;0|35 N N - 10 21076307 21076307 C T snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs2296607 0.299521 0 0 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;C>T 632;15|25 Het;C>T 473;31|21 Hom;C>T 1211;1|44 N N - 10 21097769 21097769 A G snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs3758601 0.573682 0 0 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;A>G 121;3|4 Ref Hom;A>G 142;0|4 N N - 10 21104694 21104694 A T snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs4748727 0.558906 0.4751 0.4478 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;A>T 230;7|11 Het;A>T 62;4|3 Hom;A>T 237;0|8 N N - 10 21112111 21112111 A T snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs11012353 0.302117 0.1945 0.3235 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;A>T 689;37|36 Het;A>T 763;64|44 Hom;A>T 2352;0|95 N N - 10 21115332 21115332 T C snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs1409348 0.558307 0.4649 0.4495 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;T>C 329;11|13 Het;T>C 218;22|11 Hom;T>C 960;0|34 N N - 10 21120116 21120116 A G snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs10491056 0.46905 0.4302 0.3893 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;A>G 997;40|46 Het;A>G 1294;41|57 Hom;A>G 2888;0|110 N N - 10 21141440 21141441 AG A indel intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs3831100 0.252796 0.2135 0.2582 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;-G 474;15|17 Het;-G 741;24|26 Hom;-G 1391;0|40 N N - 10 21147418 21147418 G A snp intronic NEBL ENSG00000078114 nebulette chr10:21068902-21463116 This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Lymphocytes; Alzheimer's disease ; Lipoproteins, VLDL; nonfamilial idiopathic dilated cardiomyopathy GO:0071691;cardiac muscle thin filament assembly;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;NAS|GO:0031005;filamin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NEBL https://www.uniprot.org/uniprot/O76041 https://hpo.jax.org/app/browse/search?q=NEBL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605491 http://www.informatics.jax.org/searchtool/Search.do?query=NEBL&submit=Quick%0D%1648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEBL rs703093 0.249002 0 0 1 0 0 intronic intronic intronic NEBL NEBL ENSG00000078114 Na Na Na Na Na Na Het;G>A 149;3|5 Het;G>A 73;3|3 Hom;G>A 159;0|5 N N - 10 21536993 21536993 A G snp ncRNA_exonic LUZP4P1 rs7900467 0.53754 0 0 1 0 0 intergenic intergenic ncRNA_exonic NEBL-AS1(dist=73141),CASC10(dist=246428) NEBL-AS1(dist=73141),C10orf114(dist=246428) ENSG00000232853 Na Na Na Na Na Na Het;A>G 125;5|4 Het;A>G 215;7|10 Hom;A>G 279;0|10 N N - 10 22896779 22896779 C T snp intronic PIP4K2A Pip4k2a ENSG00000150867 phosphatidylinositol-5-phosphate 4-kinase type 2 alpha chr10:22823778-23003484 Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Bipolar Disorder; Stroke; schizophrenia; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; bipolar disorder; Prostatic Neoplasms; bipolar disorder schizophrenia; Schizophrenia; Alzheimer's disease Mice homozygous for a null allele are viable and appear phenotypically normal. Synthesis of PIPs in the nucleus GO:0006644;phospholipid metabolic process;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0010506;regulation of autophagy;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0035855;megakaryocyte development;IEA|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IMP|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;NAS|GO:0016309;1-phosphatidylinositol-5-phosphate 4-kinase activity;EXP|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIP4K2A https://www.uniprot.org/uniprot/P48426 https://www.ncbi.nlm.nih.gov/omim/?term=603140 http://www.informatics.jax.org/searchtool/Search.do?query=PIP4K2A&submit=Quick%0D%9356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP4K2A rs2765997 0.769369 0 0.6690 1 0 0 intronic intronic intronic PIP4K2A PIP4K2A ENSG00000150867 Na Na Na Na Na Na Het;C>T 319;14|11 Het;C>T 322;15|12 Hom;C>T 634;0|18 N N - 10 24329963 24329963 G A snp intronic KIAA1217 Etl4 ENSG00000120549 KIAA1217 chr10:23983675-24836772 Intervertebral Disk Displacement; Tobacco Use Disorder; Heart Failure; C-Reactive Protein; Cognitive performance ; Mental Competency; Pancreatic Neoplasms; Triglycerides Mice homozygous for a gene-trapped allele display malformations of the notochord and caudal vertebrae and may exhibit caudal tail kinks. Mice homozygous for another gene-trapped allele have malformed caudal vertebrae and intervertebral disk abnormalities; about half display kinked tails. GO:0007275;multicellular organism development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0048706;embryonic skeletal system development;ISS|GO:0061001;regulation of dendritic spine morphogenesis;IEA GO:0005737;cytoplasm;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/KIAA1217 https://www.uniprot.org/uniprot/Q5T5P2 https://www.ncbi.nlm.nih.gov/omim/?term=617367 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1217&submit=Quick%0D%5219ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1217 rs10741037 0.451877 0 0 1 0 0 intronic intronic intronic KIAA1217 KIAA1217 ENSG00000120549 Na Na Na Na Na Na Het;G>A 324;12|15 Het;G>A 234;16|13 Hom;G>A 849;0|33 N N - 10 25140411 25140411 G C snp intronic PRTFDC1 ENSG00000099256 phosphoribosyl transferase domain containing 1 chr10:25137536-25241533 GO:0006166;purine ribonucleoside salvage;IEA|GO:0009116;nucleoside metabolic process;IEA GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRTFDC1 https://www.uniprot.org/uniprot/Q9NRG1 https://www.ncbi.nlm.nih.gov/omim/?term=610751 http://www.informatics.jax.org/searchtool/Search.do?query=PRTFDC1&submit=Quick%0D%2303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRTFDC1 rs1326192 0.441094 0.4317 0.4509 1 0 0 intronic intronic intronic PRTFDC1 PRTFDC1 ENSG00000099256 Na Na Na Na Na Na Het;G>C 972;38|43 Het;G>C 597;47|29 Hom;G>C 2164;0|73 N N - 10 26825293 26825293 T C snp intronic APBB1IP Apbb1ip ENSG00000077420 amyloid beta precursor protein binding family B member 1 interacting protein chr10:26727132-26856732 Alzheimer's disease; Tobacco Use Disorder; Body Weight; monocyte chemoattractant protein 1 (66-77); Alzheimer's disease ; Macular Degeneration; Inflammation Mice homozygous for a knock-out allele are viable, fertile and healthy with no apparent defects in platelet integrin activation and function, hemostasis, or arterial thrombus formation. Paradoxical activation of RAF signaling by kinase inactive BRAF GO:0002291;T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;IEA|GO:0007165;signal transduction;IEA|GO:0045785;positive regulation of cell adhesion;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042101;T cell receptor complex;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APBB1IP https://www.uniprot.org/uniprot/Q7Z5R6 https://www.ncbi.nlm.nih.gov/omim/?term=609036 http://www.informatics.jax.org/searchtool/Search.do?query=APBB1IP&submit=Quick%0D%1623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APBB1IP rs1753347 0.52516 0 0 1 0 0 intronic intronic intronic APBB1IP APBB1IP ENSG00000077420 Na Na Na Na Na Na Het;T>C 44;2|2 Het;T>C 205;2|7 Hom;T>C 181;0|5 N N - 10 27054375 27054375 C T snp intronic ABI1 Abi1 ENSG00000136754 abl interactor 1 chr10:27035522-27150016 This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011] Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis. RHO GTPases Activate WASPs and WAVEs GO:0001756;somitogenesis;IEA|GO:0006928;movement of cell or subcellular component;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0008154;actin polymerization or depolymerization;NAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035855;megakaryocyte development;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048813;dendrite morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0072673;lamellipodium morphogenesis;IEA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0031209;SCAR complex;IDA|GO:0031252;cell leading edge;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS|GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IEA|GO:0032403;protein complex binding;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABI1 https://www.uniprot.org/uniprot/Q8IZP0 https://www.ncbi.nlm.nih.gov/omim/?term=603050 http://www.informatics.jax.org/searchtool/Search.do?query=ABI1&submit=Quick%0D%7396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI1 rs7915128 0.64377 0 0 1 0 0 intronic intronic intronic ABI1 ABI1 ENSG00000136754 Na Na Na Na Na Na Het;C>T 133;7|5 Ref Hom;C>T 347;0|10 N N - 10 27221542 27221542 A C snp ncRNA_intronic LINC00202-1 rs2477934 0.773363 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00202-1 LINC00202-1 ENSG00000232224 Na Na Na Na Na Na Het;A>C 162;4|6 Het;A>C 277;4|12 Hom;A>C 344;0|13 N N - 10 27230529 27230529 A G snp ncRNA_exonic LINC00202-1 rs787722 0.706869 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00202-1 LINC00202-1 ENSG00000232224 Na Na Na Na Na Na Het;A>G 3544;156|147 Het;A>G 2866;138|124 Hom;A>G 7341;0|258 N N - 10 27381349 27381349 T C snp synonymous SNV A624G V208V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ANKRD26 Ankrd26 ENSG00000107890 ankyrin repeat domain 26 chr10:27280843-27389421 This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism. GO:0005813;centrosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD26 https://www.uniprot.org/uniprot/Q9UPS8 https://hpo.jax.org/app/browse/search?q=ANKRD26&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610855 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD26&submit=Quick%0D%3655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD26 rs2297145 0.346645 0.2101 0.2571 1 0 0 exonic exonic exonic ANKRD26 ANKRD26 ENSG00000107890 synonymous SNV synonymous SNV unknown ANKRD26:NM_014915:exon4:c.A624G:p.V208V,ANKRD26:NM_001256053:exon4:c.A624G:p.V208V, ANKRD26:uc009xku.1:exon4:c.A624G:p.V208V,ANKRD26:uc001ith.2:exon4:c.A624G:p.V208V, UNKNOWN Het;T>C 580;46|24 Het;T>C 609;27|30 Hom;T>C 1848;0|71 N N - 10 27389497 27389497 A G snp upstream ANKRD26 Ankrd26 ENSG00000107890 ankyrin repeat domain 26 chr10:27280843-27389421 This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism. GO:0005813;centrosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD26 https://www.uniprot.org/uniprot/Q9UPS8 https://hpo.jax.org/app/browse/search?q=ANKRD26&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610855 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD26&submit=Quick%0D%3655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD26 rs11015529 0.349641 0 0 1 0 0 upstream upstream upstream ANKRD26 ANKRD26 ENSG00000107890 Na Na Na Na Na Na Het;A>G 368;25|16 Het;A>G 221;19|9 Hom;A>G 734;0|26 N N - 10 27401056 27401056 C T snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs11015538 0.347244 0.2208 0.2536 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;C>T 1465;51|63 Het;C>T 799;52|39 Hom;C>T 2426;0|86 N N - 10 27404927 27404927 G T snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs2297151 0.347244 0.2138 0 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;G>T 279;9|12 Het;G>T 320;6|12 Hom;G>T 603;0|18 N N - 10 27405096 27405096 A G snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs2297152 0.347045 0.2208 0.2532 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;A>G 1683;51|69 Het;A>G 1112;63|48 Hom;A>G 4161;0|147 N N - 10 27405360 27405360 G GC indel intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs35804170 0.348842 0 0 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;+C 299;14|11 Het;+C 67;10|4 Hom;+C 1048;0|29 N N - 10 27412669 27412669 A T snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs2274743 0.340056 0.1977 0.2527 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;A>T 115;19|8 Het;A>T 412;16|21 Hom;A>T 1429;0|56 N N - 10 27423744 27423744 T C snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs2275752 0.280351 0.2191 0.2162 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;T>C 947;73|47 Het;T>C 1318;57|63 Hom;T>C 3782;1|136 N N - 10 27425442 27425442 G A snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs10829194 0.280152 0 0 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;G>A 406;9|14 Het;G>A 411;8|14 Hom;G>A 484;0|15 N N - 10 27434483 27434483 G A snp synonymous SNV C205T L69L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs2274634 0.348842 0.2229 0.2540 1 0 0 exonic exonic exonic YME1L1 YME1L1 ENSG00000136758 synonymous SNV synonymous SNV unknown YME1L1:NM_014263:exon3:c.C205T:p.L69L,YME1L1:NM_139312:exon4:c.C376T:p.L126L,YME1L1:NM_001253866:exon3:c.C205T:p.L69L, YME1L1:uc001itj.3:exon3:c.C205T:p.L69L,YME1L1:uc001iti.3:exon4:c.C376T:p.L126L,YME1L1:uc010qdl.2:exon3:c.C205T:p.L69L, UNKNOWN Het;G>A 2695;119|128 Het;G>A 2674;92|122 Hom;G>A 6311;0|241 N N - 10 27434674 27434674 C T snp UTR3 *1681G>A YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs2274635 0.348642 0 0 1 0 0 intronic UTR3 UTR3 YME1L1 YME1L1(uc001itk.2:c.*1681G>A) ENSG00000136758(ENST00000477432:c.*1681G>A) Na Na Na Na Na Na Het;C>T 400;8|13 Het;C>T 64;3|3 Hom;C>T 231;0|7 N N - 10 27437994 27437994 C T snp intronic YME1L1 Yme1l1 ENSG00000136758 YME1 like 1 ATPase chr10:27399383-27444195 The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IMP|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:0008283;cell proliferation;IMP|GO:0035694;mitochondrial protein catabolic process;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004176;ATP-dependent peptidase activity;IBA|GO:0004222;metalloendopeptidase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YME1L1 https://www.uniprot.org/uniprot/Q96TA2 https://hpo.jax.org/app/browse/search?q=YME1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607472 http://www.informatics.jax.org/searchtool/Search.do?query=YME1L1&submit=Quick%0D%7397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YME1L1 rs10764675 0.347244 0.2197 0.2537 1 0 0 intronic intronic intronic YME1L1 YME1L1 ENSG00000136758 Na Na Na Na Na Na Het;C>T 1110;51|47 Het;C>T 1115;33|45 Hom;C>T 2694;0|92 N N - 10 28812514 28812514 T G snp ncRNA_exonic WAC-AS1 rs200814819 0.996006 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic WAC-AS1 WAC-AS1 ENSG00000254635 Na Na Na Na Na Na Het;T>G 916;21|50 Het;T>G 805;21|43 Hom;T>G 586;3|27 N N - 10 29519285 29519285 C A snp intergenic C10orf126 rs12267650 0.1877 0 0 1 0 0 intergenic intergenic intergenic C10orf126(dist=348459),LYZL1(dist=58705) 5S_rRNA(dist=355849),LYZL1(dist=58705) ENSG00000229605(dist=330863),ENSG00000120563(dist=58705) Na Na Na Na Na Na Het;C>A 195;10|7 Het;C>A 214;4|8 Hom;C>A 404;0|12 N N - 10 29519567 29519567 A G snp intergenic C10orf126 rs12253105 0.1877 0 0 1 0 0 intergenic intergenic intergenic C10orf126(dist=348741),LYZL1(dist=58423) 5S_rRNA(dist=356131),LYZL1(dist=58423) ENSG00000229605(dist=331145),ENSG00000120563(dist=58423) Na Na Na Na Na Na Het;A>G 126;11|5 Ref Hom;A>G 258;0|7 N N - 10 29577924 29577924 G C snp upstream LYZL1 Lyzl1 ENSG00000120563 lysozyme like 1 chr10:29577990-29607257 Tobacco Use Disorder Female homozygous mutant mice exhibit a decreased mean heart rate. Male mice homozygous for a null allele display normal fertility and testis morphology. GO:0008152;metabolic process;IEA GO:0005576;extracellular region;IEA GO:0003796;lysozyme activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYZL1 https://www.uniprot.org/uniprot/Q6UWQ5 http://www.informatics.jax.org/searchtool/Search.do?query=LYZL1&submit=Quick%0D%5220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZL1 rs2768670 0.676717 0 0 1 0 0 upstream upstream upstream LYZL1 LYZL1 ENSG00000120563 Na Na Na Na Na Na Het;G>C 269;4|9 Het;G>C 175;9|6 Hom;G>C 134;0|4 N N - 10 29578084 29578084 A G snp nonsynonymous SNV A38G K13R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LYZL1 Lyzl1 ENSG00000120563 lysozyme like 1 chr10:29577990-29607257 Tobacco Use Disorder Female homozygous mutant mice exhibit a decreased mean heart rate. Male mice homozygous for a null allele display normal fertility and testis morphology. GO:0008152;metabolic process;IEA GO:0005576;extracellular region;IEA GO:0003796;lysozyme activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYZL1 https://www.uniprot.org/uniprot/Q6UWQ5 http://www.informatics.jax.org/searchtool/Search.do?query=LYZL1&submit=Quick%0D%5220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZL1 rs2532753 0.676917 0 0.6467 0.42 5 12 exonic exonic exonic LYZL1 LYZL1 ENSG00000120563 nonsynonymous SNV nonsynonymous SNV unknown LYZL1:NM_032517:exon1:c.A38G:p.K13R, LYZL1:uc001iul.3:exon1:c.A38G:p.K13R, UNKNOWN Het;A>G 1360;111|69 Het;A>G 782;112|43 Hom;A>G 3581;0|139 N N - 10 29782066 29782066 A G snp intronic SVIL Svil ENSG00000197321 supervillin chr10:29746267-30025710 This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016] Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation. GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SVIL https://www.ncbi.nlm.nih.gov/omim/?term=604126 http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL rs4749439 0.564696 0 0 1 0 0 intronic intronic intronic SVIL SVIL ENSG00000197321 Na Na Na Na Na Na Het;A>G 179;8|7 Het;A>G 247;10|8 Hom;A>G 469;0|12 N N - 10 29783813 29783813 G A snp intronic SVIL Svil ENSG00000197321 supervillin chr10:29746267-30025710 This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016] Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation. GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SVIL https://www.ncbi.nlm.nih.gov/omim/?term=604126 http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL rs6481600 0.570288 0.5441 0.5078 1 0 0 intronic intronic intronic SVIL SVIL ENSG00000197321 Na Na Na Na Na Na Het;G>A 305;16|12 Het;G>A 293;13|11 Hom;G>A 396;0|13 N N - 10 29991278 29991278 G GTCT indel intronic SVIL Svil ENSG00000197321 supervillin chr10:29746267-30025710 This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016] Multiple Sclerosis; Cell Adhesion Molecules; Receptors, Tumor Necrosis Factor, Type II; Tobacco Use Disorder; Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; normalized brain volume, multiple sclerosis; Diabetes Mellitus; Body Height; cardiac stroke volume to regular exercise Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation. GO:0007010;cytoskeleton organization;IEA|GO:0007519;skeletal muscle tissue development;IMP|GO:0032467;positive regulation of cytokinesis;ISS GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030496;midbody;IEA|GO:0032154;cleavage furrow;IEA|GO:0036449;microtubule minus-end;ISS|GO:0042995;cell projection;IEA|GO:0043034;costamere;IDA|GO:0071437;invadopodium;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SVIL https://www.ncbi.nlm.nih.gov/omim/?term=604126 http://www.informatics.jax.org/searchtool/Search.do?query=SVIL&submit=Quick%0D%16594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIL rs112454400 0 0 0 1 0 0 intronic intronic intronic SVIL SVIL ENSG00000197321 Na Na Na Na Na Na Het;+TCT 306;24|15 Het;+TCT 561;17|26 Hom;+TCT 2552;0|58 N N - 10 30657716 30657716 G A snp ncRNA_intronic DKFZp434I138 rs12767454 0.425919 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic GOLGA2P6 DKFZp434I138 ENSG00000241621 Na Na Na Na Na Na Het;G>A 102;6|5 Ref Hom;G>A 105;0|5 N N - 10 30658517 30658517 C T snp ncRNA_exonic GOLGA2P6 rs10826793 0.176717 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic GOLGA2P6 DKFZp434I138 ENSG00000241621 Na Na Na Na Na Na Het;C>T 1029;56|48 Ref Hom;C>T 2165;0|76 N N - 10 30660798 30660798 C T snp ncRNA_exonic GOLGA2P6 rs10826794 0.251997 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic GOLGA2P6 DKFZp434I138 ENSG00000241621 Na Na Na Na Na Na Het;C>T 871;26|36 Ref Hom;C>T 1406;0|46 N N - 10 30662734 30662734 G C snp ncRNA_exonic DKFZp434I138 rs7476284 0.695487 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic GOLGA2P6(dist=1898),MAP3K8(dist=60216) DKFZp434I138 ENSG00000241621 Na Na Na Na Na Na Het;G>C 116;8|7 Ref Hom;G>C 141;0|5 N N - 10 30915571 30915571 C T snp intronic LYZL2 Lyzl1 ENSG00000151033 lysozyme like 2 chr10:30900718-30918691 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] Macular Degeneration; cardiac stroke volume to regular exercise Female homozygous mutant mice exhibit a decreased mean heart rate. Male mice homozygous for a null allele display normal fertility and testis morphology. GO:0008152;metabolic process;IEA GO:0005576;extracellular region;IEA GO:0003796;lysozyme activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYZL2 https://www.uniprot.org/uniprot/Q7Z4W2 https://www.ncbi.nlm.nih.gov/omim/?term=612748 http://www.informatics.jax.org/searchtool/Search.do?query=LYZL2&submit=Quick%0D%9373ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZL2 rs395546 0 0 0 1 0 0 intronic intronic intronic LYZL2 LYZL2 ENSG00000151033 Na Na Na Na Na Na Het;C>T 324;11|10 Ref Hom;C>T 548;0|16 N N - 10 30915590 30915590 T C snp intronic LYZL2 Lyzl1 ENSG00000151033 lysozyme like 2 chr10:30900718-30918691 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] Macular Degeneration; cardiac stroke volume to regular exercise Female homozygous mutant mice exhibit a decreased mean heart rate. Male mice homozygous for a null allele display normal fertility and testis morphology. GO:0008152;metabolic process;IEA GO:0005576;extracellular region;IEA GO:0003796;lysozyme activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYZL2 https://www.uniprot.org/uniprot/Q7Z4W2 https://www.ncbi.nlm.nih.gov/omim/?term=612748 http://www.informatics.jax.org/searchtool/Search.do?query=LYZL2&submit=Quick%0D%9373ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZL2 rs48973 0.626797 0 0 1 0 0 intronic intronic intronic LYZL2 LYZL2 ENSG00000151033 Na Na Na Na Na Na Het;T>C 806;8|23 Het;T>C 542;6|19 Hom;T>C 687;0|21 N N - 10 329188 329188 G T snp intronic DIP2C Dip2c ENSG00000151240 disco interacting protein 2 homolog C chr10:320130-735683 This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] Triglycerides; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; hypertension; Alzheimer Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Lipids; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0008152;metabolic process;IEA GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DIP2C https://www.uniprot.org/uniprot/Q9Y2E4 https://www.ncbi.nlm.nih.gov/omim/?term=611380 http://www.informatics.jax.org/searchtool/Search.do?query=DIP2C&submit=Quick%0D%9395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIP2C rs45445697 0.238818 0 0.4048 1 0 0 intronic intronic intronic DIP2C DIP2C ENSG00000151240 Na Na Na Na Na Na Het;G>T 2225;32|55 Het;G>T 1197;36|32 Hom;G>T 3254;0|70 N N - 10 329191 329192 GC G indel intronic DIP2C Dip2c ENSG00000151240 disco interacting protein 2 homolog C chr10:320130-735683 This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] Triglycerides; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; hypertension; Alzheimer Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Lipids; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0008152;metabolic process;IEA GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DIP2C https://www.uniprot.org/uniprot/Q9Y2E4 https://www.ncbi.nlm.nih.gov/omim/?term=611380 http://www.informatics.jax.org/searchtool/Search.do?query=DIP2C&submit=Quick%0D%9395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIP2C rs371065533 0.243411 0 0.4057 1 0 0 intronic intronic intronic DIP2C DIP2C ENSG00000151240 Na Na Na Na Na Na Het;-C 2232;34|58 Het;-C 1185;37|32 Hom;-C 3245;0|75 N N - 10 33467108 33467108 G A snp UTR3 *1896C>T NRP1 Nrp1 ENSG00000099250 neuropilin 1 chr10:33466420-33625190 This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. CHL1 interactions GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRP1 https://www.uniprot.org/uniprot/O14786 https://www.ncbi.nlm.nih.gov/omim/?term=602069 http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1 rs10080 0.584665 0 0 1 0 0 UTR3 UTR3 UTR3 NRP1(NM_001244973:c.*1896C>T,NM_003873:c.*1896C>T,NM_001244972:c.*1896C>T) NRP1(uc001iwv.4:c.*1896C>T,uc001iwy.4:c.*1896C>T,uc009xlz.3:c.*1896C>T,uc001iwx.4:c.*1896C>T,uc001iww.4:c.*1896C>T) ENSG00000099250(ENST00000265371:c.*1896C>T,ENST00000374875:c.*1896C>T,ENST00000374867:c.*1896C>T) Na Na Na Na Na Na Het;G>A 1661;70|75 Ref Hom;G>A 5109;1|189 N N - 10 33468014 33468014 T C snp UTR3 *990A>G NRP1 Nrp1 ENSG00000099250 neuropilin 1 chr10:33466420-33625190 This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. CHL1 interactions GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRP1 https://www.uniprot.org/uniprot/O14786 https://www.ncbi.nlm.nih.gov/omim/?term=602069 http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1 rs2506141 0.65635 0 0 1 0 0 UTR3 UTR3 UTR3 NRP1(NM_001244973:c.*990A>G,NM_003873:c.*990A>G,NM_001244972:c.*990A>G) NRP1(uc001iwv.4:c.*990A>G,uc001iwy.4:c.*990A>G,uc009xlz.3:c.*990A>G,uc001iwx.4:c.*990A>G,uc001iww.4:c.*990A>G) ENSG00000099250(ENST00000265371:c.*990A>G,ENST00000374875:c.*990A>G,ENST00000374867:c.*990A>G) Na Na Na Na Na Na Het;T>C 1131;60|43 Ref Hom;T>C 3490;2|124 N N - 10 33481478 33481478 A G snp intronic NRP1 Nrp1 ENSG00000099250 neuropilin 1 chr10:33466420-33625190 This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. CHL1 interactions GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRP1 https://www.uniprot.org/uniprot/O14786 https://www.ncbi.nlm.nih.gov/omim/?term=602069 http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1 rs2243920 0.567292 0 0 1 0 0 intronic intronic intronic NRP1 NRP1 ENSG00000099250 Na Na Na Na Na Na Het;A>G 103;3|4 Ref Hom;A>G 144;0|5 N N - 10 33492093 33492093 A G snp intronic NRP1 Nrp1 ENSG00000099250 neuropilin 1 chr10:33466420-33625190 This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] cardiac stroke volume to regular exercise; Varicose Ulcer; Alzheimer's disease ; Alcoholism; Body Weight; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; Dengue Hemorrhagic Fever; schizophrenia; several psychiatric disorders; diabetes, type 1 ; Chronic renal failure|Kidney Failure, Chronic; Breast Neoplasms|Carcinoma, Intraductal, Noninfiltrating|Hot Flashes|Neoplasm Invasiveness|Neovascularization, Pathologic; Echocardiography; Triglycerides; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Oesophageal neoplasm|Squamous cell carcinoma; Schizophrenia; Hypertrophy, Left Ventricular Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. CHL1 interactions GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001764;neuron migration;IEA|GO:0001938;positive regulation of endothelial cell proliferation;TAS|GO:0002040;sprouting angiogenesis;ISS|GO:0002042;cell migration involved in sprouting angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010595;positive regulation of endothelial cell migration;TAS|GO:0014911;positive regulation of smooth muscle cell migration;TAS|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021636;trigeminal nerve morphogenesis;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021649;vestibulocochlear nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0021828;gonadotrophin-releasing hormone neuronal migration to the hypothalamus;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IMP|GO:0035767;endothelial cell chemotaxis;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;ISS|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0038190;VEGF-activated neuropilin signaling pathway;ISS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0048666;neuron development;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048844;artery morphogenesis;ISS|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0050918;positive chemotaxis;IEA|GO:0060301;positive regulation of cytokine activity;TAS|GO:0060385;axonogenesis involved in innervation;IEA|GO:0060627;regulation of vesicle-mediated transport;TAS|GO:0060666;dichotomous subdivision of terminal units involved in salivary gland branching;IEA|GO:0060978;angiogenesis involved in coronary vascular morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;IEA|GO:0061299;retina vasculature morphogenesis in camera-type eye;ISS|GO:0061441;renal artery morphogenesis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0061551;trigeminal ganglion development;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071679;commissural neuron axon guidance;IEA|GO:0090259;regulation of retinal ganglion cell axon guidance;IEA|GO:0097102;endothelial tip cell fate specification;ISS|GO:0097374;sensory neuron axon guidance;IEA|GO:0097475;motor neuron migration;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1901998;toxin transport;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA|GO:1902336;positive regulation of retinal ganglion cell axon guidance;IEA|GO:1902378;VEGF-activated neuropilin signaling pathway involved in axon guidance;IEA|GO:1902946;protein localization to early endosome;ISS|GO:1903375;facioacoustic ganglion development;IEA|GO:1904835;dorsal root ganglion morphogenesis;IEA|GO:1905040;otic placode development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA GO:0002116;semaphorin receptor complex;NAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;ISS|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;TAS|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;TAS|GO:0097443;sorting endosome;ISS GO:0005021;vascular endothelial growth factor-activated receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0015026;coreceptor activity;TAS|GO:0017154;semaphorin receptor activity;IEA|GO:0019838;growth factor binding;IEA|GO:0019955;cytokine binding;NAS|GO:0038085;vascular endothelial growth factor binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRP1 https://www.uniprot.org/uniprot/O14786 https://www.ncbi.nlm.nih.gov/omim/?term=602069 http://www.informatics.jax.org/searchtool/Search.do?query=NRP1&submit=Quick%0D%2302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRP1 rs2247715 0.517173 0 0 1 0 0 intronic intronic intronic NRP1 NRP1 ENSG00000099250 Na Na Na Na Na Na Het;A>G 69;2|3 Ref Hom;A>G 173;0|5 N N - 10 3461010 3461010 T A snp ncRNA_intronic BC037918 rs2210963 0.73103 0 0 1 0 0 intergenic ncRNA_intronic intergenic PITRM1(dist=245977),KLF6(dist=357178) BC037918 ENSG00000227338(dist=151803),ENSG00000233321(dist=68076) Na Na Na Na Na Na Het;T>A 290;32|16 Het;T>A 518;50|28 Hom;T>A 1439;0|56 N N - 10 35930412 35930412 C CG indel upstream FZD8 Fzd8 ENSG00000177283 frizzled class receptor 8 chr10:35927177-35930362 This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008] protein quantitative trait loci; Cleft Lip|Cleft Palate Homozygous mutation of this gene does not appear to result in a phenotype. RNF mutants show enhanced WNT signaling and proliferation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030182;neuron differentiation;ISS|GO:0033077;T cell differentiation in thymus;IEA|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060070;canonical Wnt signaling pathway;IMP GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990851;Wnt-Frizzled-LRP5/6 complex;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042813;Wnt-activated receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FZD8 https://www.ncbi.nlm.nih.gov/omim/?term=606146 http://www.informatics.jax.org/searchtool/Search.do?query=FZD8&submit=Quick%0D%13999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FZD8 rs142623421 0 0 0 1 0 0 upstream upstream upstream FZD8,MIR4683 FZD8 ENSG00000177283,ENSG00000264780 Na Na Na Na Na Na Het;+G 328;24|19 Ref Hom;+G 651;0|26 N N - 10 36339870 36339870 T C snp intergenic LINC01452 rs7081825 0.694289 0 0 1 0 0 intergenic intergenic intergenic LINC01452(dist=250022),ANKRD30A(dist=1074915) FW312330(dist=288618),ANKRD30A(dist=1074915) ENSG00000227313(dist=151979),ENSG00000227475(dist=38144) Na Na Na Na Na Na Het;T>C 130;12|7 Ref Hom;T>C 817;0|32 N N - 10 4128024 4128024 C T snp ncRNA_intronic AK055803 rs2069178 0.53095 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927964 AK055803 ENSG00000236990 Na Na Na Na Na Na Het;C>T 271;14|10 Het;C>T 277;7|13 Hom;C>T 712;0|23 N N - 10 42393827 42393827 A G snp intergenic NONE rs112997712 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC441666(dist=433487) NONE(dist=NONE),LOC441666(dist=433487) NONE(dist=NONE),ENSG00000229485(dist=250931) Na Na Na Na Na Na Het;A>G 338;4|16 Het;A>G 739;4|34 Hom;A>G 740;4|30 N N - 10 42661204 42661204 G A snp intergenic NONE rs61846229 0.00978435 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC441666(dist=166110) NONE(dist=NONE),LOC441666(dist=166110) ENSG00000229485(dist=16207),ENSG00000237592(dist=19583) Na Na Na Na Na Na Het;G>A 2103;4|52 Het;G>A 3645;15|90 Hom;G>A 6195;10|150 N N - 10 42661225 42661225 C T snp intergenic NONE rs61846230 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC441666(dist=166089) NONE(dist=NONE),LOC441666(dist=166089) ENSG00000229485(dist=16228),ENSG00000237592(dist=19562) Na Na Na Na Na Na Het;C>T 2059;4|50 Het;C>T 3709;14|90 Hom;C>T 6161;10|147 N N - 10 42661304 42661304 T G snp intergenic NONE rs77264616 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC441666(dist=166010) NONE(dist=NONE),LOC441666(dist=166010) ENSG00000229485(dist=16307),ENSG00000237592(dist=19483) Na Na Na Na Na Na Het;T>G 593;2|13 Het;T>G 1091;5|27 Hom;T>G 1502;0|29 N N - 10 42661326 42661326 G A snp intergenic NONE rs77852974 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC441666(dist=165988) NONE(dist=NONE),LOC441666(dist=165988) ENSG00000229485(dist=16329),ENSG00000237592(dist=19461) Na Na Na Na Na Na Het;G>A 53;1|2 Het;G>A 506;4|13 Hom;G>A 512;0|11 N N - 10 43595836 43595836 A AT indel intronic RET Ret ENSG00000165731 ret proto-oncogene chr10:43572475-43625799 This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008] Vesico-Ureteral Reflux; Cleft Lip|Cleft Palate; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; esophageal adenocarcinoma; C-cell hyperplasia; Down Syndrome|Hirschsprung Disease|Nondisjunction, Genetic; Urogenital Abnormalities|Vesico-Ureteral Reflux; Carcinoma, Medullary|Thyroid Neoplasms; pheochtomocytomas; null; sporadic pheochromocytoma; Digestive System Abnormalities|Hirschsprung Disease; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; medullary sponge kidney disease; Adrenal Gland Neoplasms|Adrenal Neoplasm|Carcinoma, Medullary|Medullary carcinoma|Multiple Endocrine Neoplasia Type 2a|Pheochromocytoma|thyroid neoplasm|Thyroid Neoplasms; thyroid cancer; Sleep Apnea, Obstructive; Tobacco Use Disorder; Schizophrenia; Carcinoma, Medullary|Lymphatic Metastasis|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Alzheimer's disease ; lung cancer; Multiple Endocrine Neoplasia Type 2b; Carcinoma, Medullary|Lymphatic Metastasis|Multiple Endocrine Neoplasia Type 2a|Thyroid Neoplasms; pheochromocytoma; Pancreatic Neoplasms; Hirschsprung's disease intestinal neuronal dysplasia; thyroid cancer; thyroid carcinoma, sporadic medullary; papillary thyroid cancer; Adrenal Gland Neoplasms|Adrenal Neoplasm|Neoplasms, Multiple Primary|Paraganglioma|Pheochromocytoma; multiple endocrine neoplasia type 2A; Carcinoma|Carcinoma, Papillary|Necrosis|Neoplasm Recurrence, Local|thyroid neoplasm|Thyroid Neoplasms; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; bladder cancer; Adrenal Gland Neoplasms|Adrenal Neoplasm|Paraganglioma|Pheochromocytoma; Carcinoma, Medullary|Neoplasm Metastasis|Thyroid Neoplasms; Head and Neck Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|von Hippel-Lindau Disease; thyroid cancer; Hirschsprung's disease; cutaneous lichen amyloidosis.; Parkinson's disease ; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; Idiopathic slow-transit constipation; multiple Endocrine Neoplasia Type 2; Carcinoma, Medullary|Hyperplasia|Thyroid Neoplasms; Adrenal Gland Neoplasms|Pheochromocytoma; normal variation; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Carcinoma, Medullary|Medullary carcinoma|Multiple Endocrine Neoplasia Type 2a|thyroid neoplasm|Thyroid Neoplasms; lung cancer ; Hirschsprung Disease; Adrenal Gland Neoplasms|Head and Neck Neoplasms|Paraganglioma|Pheochromocytoma; Adrenal Gland Neoplasms|Paraganglioma|Pheochromocytoma; Carcinoma, Papillary|Recurrence|Thyroid Neoplasms; Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Thyroid Neoplasms; chronic obstructive pulmonary disease; SIDS/sudden infant death syndrome; Thyroid Diseases|thyroid neoplasm|Thyroid Neoplasms; Hirschsprung Disease|Hydronephrosis|Vesico-Ureteral Reflux; Kidney Diseases|Vitamin A Deficiency; ovarian cancer; thyroid cancer; pheochromocytoma; Thyroid Neoplasms; Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a|Paraganglioma|Pheochromocytoma|von Hippel-Lindau Disease; germline mutations; multiple endocrine neoplasia; hereditary medullary thyroid carcinoma; Carcinoma, Papillary, Follicular|Neoplasm Metastasis|Thyroid Neoplasms; Head and Neck Neoplasms|Paraganglioma; Carcinoma, Medullary|Neoplasm Recurrence, Local|Thyroid Neoplasms; Hirschsprung's disease; Congenital Megacolon|Hirschsprung Disease; Hirschsprung disease Mice homozygous for some point mutations or knock-out alleles exhibit premature lethality, defects in neurogenesis, and abnormal kidney, ureter, ovary, muscle, and intestine morphology. RET signaling GO:0000165;MAPK cascade;TAS|GO:0001657;ureteric bud development;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001838;embryonic epithelial tube formation;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007158;neuron cell-cell adhesion;IMP|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0007497;posterior midgut development;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IMP|GO:0014042;positive regulation of neuron maturation;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030155;regulation of cell adhesion;IDA|GO:0030182;neuron differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0033619;membrane protein proteolysis;IDA|GO:0033630;positive regulation of cell adhesion mediated by integrin;IDA|GO:0035799;ureter maturation;IEA|GO:0042493;response to drug;IEA|GO:0042551;neuron maturation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045793;positive regulation of cell size;IEA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048265;response to pain;ISS|GO:0048484;enteric nervous system development;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060384;innervation;IEA|GO:0061146;Peyer's patch morphogenesis;ISS|GO:0071300;cellular response to retinoic acid;IMP|GO:0072300;positive regulation of metanephric glomerulus development;ISS|GO:0097021;lymphocyte migration into lymphoid organs;ISS|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IDA|GO:0045121;membrane raft;IEA|GO:0098797;plasma membrane protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0004872;receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RET https://hpo.jax.org/app/browse/search?q=RET&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164761 http://www.informatics.jax.org/searchtool/Search.do?query=RET&submit=Quick%0D%11614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RET rs534183051 0.261182 0 0 1 0 0 intronic intronic intronic RET RET ENSG00000165731 Na Na Na Na Na Na Het;+T 216;5|13 Het;+T 330;6|20 Hom;+T 355;2|18 N N - 10 4680613 4680613 T C snp ncRNA_intronic LINC00704 rs313446 0.486821 0 0 1 0 0 intergenic ncRNA_intronic intergenic LINC00703(dist=227809),LINC00704(dist=11764) LINC00704 ENSG00000207124(dist=123364),ENSG00000231298(dist=11764) Na Na Na Na Na Na Het;T>C 77;4|5 Ref Hom;T>C 64;0|3 N N - 10 46918075 46918075 T C snp ncRNA_intronic FAM35BP rs61856916 0.288938 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic FAM35BP FAM35BP ENSG00000165874 Na Na Na Na Na Na Het;T>C 178;1|6 Het;T>C 74;3|4 Hom;T>C 324;0|9 N N - 10 46968950 46968950 A G snp intronic SYT15 Syt15 ENSG00000204176 synaptotagmin 15 chr10:46955444-46971400 This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] GO:0006906;vesicle fusion;IBA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SYT15 https://www.ncbi.nlm.nih.gov/omim/?term=608081 http://www.informatics.jax.org/searchtool/Search.do?query=SYT15&submit=Quick%0D%17218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT15 rs3127791 0 0 0 1 0 0 intronic intronic intronic SYT15 SYT15 ENSG00000204176 Na Na Na Na Na Na Het;A>G 484;4|12 Het;A>G 292;3|7 Hom;A>G 512;0|12 N N - 10 47007669 47007669 T G snp intergenic GPRIN2 Gprin2 ENSG00000204175 G protein regulated inducer of neurite outgrowth 2 chr10:46994087-47005643 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GPRIN2 https://www.ncbi.nlm.nih.gov/omim/?term=611240 http://www.informatics.jax.org/searchtool/Search.do?query=GPRIN2&submit=Quick%0D%17217ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPRIN2 rs4426075 0.809105 0 0 1 0 0 intergenic intergenic intergenic GPRIN2(dist=7101),NPY4R(dist=75865) GPRIN2(dist=7101),NONE(dist=NONE) ENSG00000204175(dist=2026),ENSG00000223477(dist=4084) Na Na Na Na Na Na Het;T>G 221;5|10 Het;T>G 212;3|8 Hom;T>G 251;0|10 N N - 10 4701546 4701546 A C snp ncRNA_intronic LINC00704 rs313494 0.822085 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00704,LINC00705 LINC00704,LINC00705 ENSG00000225269,ENSG00000231298 Na Na Na Na Na Na Het;A>C 77;4|3 Het;A>C 39;4|2 Hom;A>C 142;0|4 N N - 10 50746923 50746923 C A snp intronic ERCC6 Ercc6 ENSG00000225830 ERCC excision repair 6, chromatin remodeling factor chr10:50663414-50747584 This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016] multiple sclerosis; Cockayne Syndrome|DNA Damage; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Neoplasms; prostate cancer; Mouth Neoplasms; bladder cancer; melanoma; nucleotide excision repair; atherosclerosis; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma; Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum; age-related macular degeneration; Breast Neoplasms|Carcinoma|Colorectal Neoplasms; Laryngeal Neoplasms; epithelial ovarian cancer ; esophageal cancer ; oral premalignant lesions; chronic obstructive pulmonary disease; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; lung cancer ; lung cancer; benzene haematotoxicity; colorectal cancer; breast cancer; Tobacco Use Disorder; chromosomal damage; Chronic renal failure|Kidney Failure, Chronic; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; breast cancer ; Macular Degeneration|Vision, Low Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. RNA Polymerase I Transcription Initiation GO:0000303;response to superoxide;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006284;base-excision repair;IMP|GO:0006290;pyrimidine dimer repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006362;transcription elongation from RNA polymerase I promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IGI|GO:0007256;activation of JNKK activity;IEA|GO:0007257;activation of JUN kinase activity;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009411;response to UV;IDA|GO:0009636;response to toxic substance;IEA|GO:0010165;response to X-ray;IEA|GO:0010224;response to UV-B;IEA|GO:0010332;response to gamma radiation;IEA|GO:0032784;regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008022;protein C-terminus binding;IPI|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0032403;protein complex binding;IDA|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ERCC6 https://hpo.jax.org/app/browse/search?q=ERCC6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609413 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC6&submit=Quick%0D%18638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC6 rs3750745 0.248403 0 0 1 0 0 intronic intronic intronic ERCC6,ERCC6-PGBD3 ERCC6,ERCC6-PGBD3 ENSG00000225830,ENSG00000243251,ENSG00000258838 Na Na Na Na Na Na Het;C>A 251;18|10 Ref Hom;C>A 450;0|11 N N - 10 52037495 52037496 TA T indel intergenic ASAH2 Asah2 ENSG00000188611 N-acylsphingosine amidohydrolase 2 chr10:51942538-52008370 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Electrocardiography; Blood Pressure; Alzheimer's disease Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues. Glycosphingolipid metabolism GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006672;ceramide metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS GO:0005739;mitochondrion;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016787;hydrolase activity;IEA|GO:0017040;ceramidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAH2 https://www.ncbi.nlm.nih.gov/omim/?term=611202 http://www.informatics.jax.org/searchtool/Search.do?query=ASAH2&submit=Quick%0D%16066ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAH2 rs34919887 0.634585 0 0 1 0 0 intergenic intergenic intergenic ASAH2(dist=29125),SGMS1(dist=27849) ASAH2(dist=29125),SGMS1(dist=27849) ENSG00000225137(dist=10920),ENSG00000198964(dist=27864) Na Na Na Na Na Na Het;-A 101;2|7 Ref Hom;-A 82;0|5 N N - 10 52420006 52420006 C T snp ncRNA_exonic BEND3P1 rs11006476 0.0910543 0 0 1 0 0 intergenic intergenic ncRNA_exonic SGMS1-AS1(dist=28610),ASAH2B(dist=79682) AK022382(dist=28610),ASAH2B(dist=79682) ENSG00000231345 Na Na Na Na Na Na Het;C>T 3878;83|147 Het;C>T 989;83|45 Hom;C>T 3331;0|114 N N - 10 52420041 52420041 G A snp ncRNA_exonic BEND3P1 rs11006477 0.0908546 0 0 1 0 0 intergenic intergenic ncRNA_exonic SGMS1-AS1(dist=28645),ASAH2B(dist=79647) AK022382(dist=28645),ASAH2B(dist=79647) ENSG00000231345 Na Na Na Na Na Na Het;G>A 3573;66|139 Het;G>A 821;71|41 Hom;G>A 3157;2|110 N N - 10 5316283 5316283 G A snp downstream AKR1C7P rs4242789 0.256789 0 0 1 0 0 intergenic intergenic downstream AKR1C4(dist=55373),UCN3(dist=90693) AKR1C4(dist=55373),UCN3(dist=90693) ENSG00000215267 Na Na Na Na Na Na Het;G>A 103;1|4 Het;G>A 90;7|4 Hom;G>A 172;0|6 N N - 10 5319052 5319052 C G snp ncRNA_intronic AKR1C7P rs4881424 0.256589 0 0 1 0 0 intergenic intergenic ncRNA_intronic AKR1C4(dist=58142),UCN3(dist=87924) AKR1C4(dist=58142),UCN3(dist=87924) ENSG00000215267 Na Na Na Na Na Na Het;C>G 122;1|5 Het;C>G 80;3|3 Hom;C>G 152;0|6 N N - 10 5319195 5319195 T C snp ncRNA_exonic AKR1C7P rs4881425 0.256589 0 0 1 0 0 intergenic intergenic ncRNA_exonic AKR1C4(dist=58285),UCN3(dist=87781) AKR1C4(dist=58285),UCN3(dist=87781) ENSG00000215267 Na Na Na Na Na Na Het;T>C 206;7|10 Het;T>C 153;10|8 Hom;T>C 522;0|22 N N - 10 54057725 54057725 A C snp ncRNA_intronic PRKG1-AS1 rs13499 0.311102 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PRKG1-AS1 PRKG1-AS1 ENSG00000236671 Na Na Na Na Na Na Het;A>C 405;17|13 Het;A>C 684;31|26 Hom;A>C 1492;0|46 N N - 10 54074757 54074757 A G snp synonymous SNV A318G A106A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DKK1 Dkk1 ENSG00000107984 dickkopf WNT signaling pathway inhibitor 1 chr10:54074056-54077802 This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. [provided by RefSeq, Jul 2008] Alzheimer's disease; Cleft Lip|Cleft Palate; Phosphorus; asthma; Brain; Liver Diseases; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; ovarian cancer Mice homozygous for a targeted mutation die at birth exhibiting absence of anterior head structures and forelimb malformations ranging from fusion of the distal-most limb elements to the appearance of ectopic preaxial and postaxial digits. Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001706;endoderm formation;IEA|GO:0001707;mesoderm formation;IEA|GO:0001942;hair follicle development;IEA|GO:0002090;regulation of receptor internalization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007492;endoderm development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030111;regulation of Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0030279;negative regulation of ossification;ISS|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032526;response to retinoic acid;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IDA|GO:0042662;negative regulation of mesodermal cell fate specification;IDA|GO:0042663;regulation of endodermal cell fate specification;IDA|GO:0043066;negative regulation of apoptotic process;ISS|GO:0048642;negative regulation of skeletal muscle tissue development;IEA|GO:0050807;regulation of synapse organization;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060173;limb development;ISS|GO:0060323;head morphogenesis;IEA|GO:0060325;face morphogenesis;IEA|GO:0060394;negative regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0061743;motor learning;IEA|GO:0090082;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway;ISS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090244;Wnt signaling pathway involved in somitogenesis;IEA|GO:0098883;synapse disassembly;TAS|GO:1900116;extracellular negative regulation of signal transduction;IEA|GO:1901296;negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment;IDA|GO:1904338;regulation of dopaminergic neuron differentiation;TAS|GO:1904723;negative regulation of Wnt-Frizzled-LRP5/6 complex assembly;IDA|GO:1904958;positive regulation of midbrain dopaminergic neuron differentiation;IEA|GO:2000726;negative regulation of cardiac muscle cell differentiation;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IDA|GO:0031901;early endosome membrane;TAS GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0039706;co-receptor binding;IPI|GO:0048019;receptor antagonist activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DKK1 https://www.uniprot.org/uniprot/O94907 https://hpo.jax.org/app/browse/search?q=DKK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605189 http://www.informatics.jax.org/searchtool/Search.do?query=DKK1&submit=Quick%0D%3668ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKK1 rs2241529 0.525359 0.6050 0.5383 1 0 0 exonic exonic exonic DKK1 DKK1 ENSG00000107984 synonymous SNV synonymous SNV unknown DKK1:NM_012242:exon2:c.A318G:p.A106A, DKK1:uc001jjr.3:exon2:c.A318G:p.A106A, UNKNOWN Het;A>G 1185;22|54 Het;A>G 673;23|34 Hom;A>G 1328;0|50 N N - 10 55031469 55031469 A C snp intergenic MBL2 Mbl2 ENSG00000165471 mannose binding lectin 2 chr10:54525140-54531460 This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] H-ficolin mannan binding lectin levels; Hepatitis C|Liver Cirrhosis; Apoplexy|Brain Ischemia|Stroke; mannose-binding lectin levels, serum; Bacterial Vaginosis|Recurrence|Vaginosis, Bacterial; Asthma|Pulmonary Disease, Chronic Obstructive; Aortic Valve Insufficiency|Rheumatic Diseases; Liver Diseases; Meningococcal Infections|Pneumococcal Infections; cervical cancer; Cystic Fibrosis|Lung Diseases; Cerebral Palsy|Hemiplegia|Virus Diseases; Pre-Eclampsia; Cystic Fibrosis|Pseudomonas Infections; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Rheumatic Diseases|Rheumatism; Behcet's Disease; cytomegalovirus infection, post allograft kidney transplant; Candidiasis, Vulvovaginal|Recurrence; Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Fever|Neoplasms|Neutropenia; Anemia, Sickle Cell|Bacteremia|; Acquired Immunodeficiency Syndrome|HIV Infections|Pregnancy Complications, Infectious|[X]Human immunodeficiency virus disease; Premature Birth; Cerebral Palsy; Hypersensitivity; Bacterial Infections|Churg-Strauss Syndrome|Vasculitis|Wegener Granulomatosis; HIV Infections|Tuberculosis|[X]Human immunodeficiency virus disease; SARS (severe acute respiratory syndrome); Elephantiasis, Filarial; sepsis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Infection|Multiple Myeloma|Sepsis|Systemic infection; Arthritis, Rheumatoid|Cardiovascular Diseases|Rheumatoid Arthritis; Acute-Phase Reaction|Community-Acquired Infections|Pneumonia; Bacteremia|; Common Variable Immunodeficiency|; macular degeneration; Central Nervous System Fungal Infections|Cryptococcosis|; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; colorectal cancer; Infection; Asthma; candidiasis; Recurrence|Tonsillitis; asthma; HIV Infections; Herpes Genitalis|Recurrence; Cryptosporidiosis; Alveolar Bone Loss|Chronic Periodontitis|Gingival Hemorrhage|Periodontal Attachment Loss; Lupus Erythematosus, Systemic|Pneumonia|Systemic lupus erythematosus; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Sjogren's Syndrome|Systemic lupus erythematosus; celiac disease; Hepatitis C|Pregnancy Complications, Infectious; Community-Acquired Infections|Pneumonia, Bacterial|Pneumonia, Viral; Sepsis|Systemic infection; Fetal Growth Retardation|Infant, Premature, Diseases|Intrauterine growth retardation|Sepsis|Systemic infection; diabetes, type 1; Trachoma; Arthritis, Rheumatoid|Rheumatoid Arthritis; Chlamydia Infections; Chronic renal failure|Kidney Failure, Chronic; Infection|Multiple Myeloma; Carcinoma, Hepatocellular; coronary artery disease; blood pressure; Burkholderia Infections|Cystic Fibrosis|Pseudomonas Infections; Gastritis|Helicobacter Infections; hepatocellular carcinoma; Hepatitis C|Substance Abuse, Intravenous; Tuberculosis; normal variation; Central Nervous System Diseases|HIV Infections; HIV Infections|[X]Human immunodeficiency virus disease; Q fever; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Hepatitis C; Empyema, Pleural; Lymphoma, Large B-Cell, Diffuse; Hepatitis B, Chronic|Liver Failure; Hepatitis C|Remission, Spontaneous; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pre-Eclampsia; Carotid artery stenosis|Carotid Stenosis|Graft Occlusion, Vascular; cardiovascular disease; mennose-binding lectin deficiency; Anemia|Malaria; Lupus Erythematosus, Systemic; Anemia, Sickle Cell; HTLV-I Infections|HTLV-II Infections; otitis media; bladder cancer; Inflammation|Sjogren's Syndrome; Cardiovascular Diseases|Intracranial Thrombosis|Lupus Erythematosus, Systemic|Systemic lupus erythematosus|Thrombosis; Myocarditis|Rheumatic Fever; bronchopulmonary aspergillosis pulmonary aspergillosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Atherosclerosis|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; bacterial infection; bone marrow transplantation; Sjogren's Syndrome; Lupus; Critical Illness|Sepsis|Systemic infection; Duodenal Ulcer|Gastritis|Helicobacter Infections; Gram-Negative Bacterial Infections|Gram-Positive Bacterial Infections|Leukemia, Myeloid, Acute|Sepsis|Systemic infection; Bacterial Infections|Liver Failure|Postoperative Complications; Asthma|Hypersensitivity|Respiratory Tract Infections; Alcoholism; C-Reactive Protein; HIV-1 infection; malaria; MBL2 serum levels; Infection|Inflammation|Premature Birth; Chronic Periodontitis; Hypertrophy; Carotid artery stenosis|Carotid Stenosis|Recurrence; Arteriosclerosis|Mucocutaneous Lymph Node Syndrome; early polyarthritis; lymphoma; Vitiligo; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Type 2 Diabetes| edema | rosiglitazone; Leishmaniasis, Visceral; Septic Shock|Shock, Septic; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; mannose-binding lectin insufficiency; Birth Weight|Infant, Newborn, Diseases|Infection|Premature Birth; Arthritis, Juvenile Rheumatoid|; Alzheimer's disease ; Brain Ischemia|Stroke; Bacterial Infections|; Common Variable Immunodeficiency|Lung Diseases; Epstein-Barr Virus Infections; Bacteremia|Pneumococcal Infections; Anemia, Sickle Cell|Infarction|Ischemia|Sickle cell anemia|Vascular Diseases; Gastritis, Atrophic|Helicobacter Infections; AIDS-Related Opportunistic Infections|Tuberculosis|Tuberculosis, Pulmonary; Malaria, Falciparum|Parasitemia; Prosthesis Failure; Arthritis, Rheumatoid|Myocardial ischemia|Rheumatoid Arthritis; Hepatitis C, Chronic|Liver Cirrhosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus|Thrombosis; Type 2 diabetes; Parkinson Disease; Communicable Diseases|; Behcet Syndrome|Nervous System Diseases|Ulcer; meningococcal disease; Pancreatitis; Malaria, Falciparum|Parasitemia|Placenta Diseases|Pregnancy Complications, Parasitic; Amyloidosis|Arthritis, Rheumatoid|Liver Diseases|Rheumatoid Arthritis; HTLV-1 infection; Myocardial Infarction|Postoperative Complications; HIV; antiphospholipid syndrome cardiovascular disease cholesterol cholesterol, LDL kidney failure, chronic vascular disease; patent ductus arteriosus; Acute-Phase Reaction|Tuberculosis|Tuberculosis, Pulmonary; Hypertension; Hepatitis C, Chronic; Rheumatic Heart Disease; Chronic Obstructive Pulmonary Disease; Cardiovascular Diseases|Inflammation|Insulin Resistance; Arthritis, Rheumatoid; Cytomegalovirus Infections; Papillomavirus Infections; Mucocutaneous Lymph Node Syndrome; rheumatic heart disease; tuberculosis; Ischemia|Reperfusion Injury; epithelial ovarian cancer ; Tuberculosis|Tuberculosis, Pulmonary; breast cancer; Legionnaires' Disease|Pneumonia, Bacterial; Arthritis|Arthritis, Rheumatoid|Rheumatoid Arthritis; Recurrence|Respiratory Tract Infections; systemic inflammatory response syndrome; mannose-binding protein; Respiratory Tract Infections; Reperfusion Injury; Dermatitis, Atopic|Eczema allergic; lung cancer; Glomerulonephritis, IGA|IGA Glomerulonephritides; Bronchopulmonary Dysplasia|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn|Respiratory Tract Infections; Cystic Fibrosis|Liver Diseases; Anemia, Sickle Cell|Ischemia|Recurrence|Respiratory Tract Infections; Tuberculosis, Pulmonary; Bacterial Infections|Postoperative Complications; Bacterial Infections|Recurrence|Respiratory Tract Infections|Tuberculosis; Meningitis, Bacterial; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Stomach Neoplasms; HIV Infections|Viremia|[X]Human immunodeficiency virus disease; Community-Acquired Infections|Pneumonia, Bacterial|Pneumonia, Pneumococcal; null; Lymphoma, Non-Hodgkin; chronic obstructive pulmonary disease; cystic fibrosis; Pneumococcal Infections; Echocardiography; vulvar vestibulitis; Helicobacter Infections|Stomach Neoplasms; Periodontitis; herpes-associated recurrent lymphocytic meningitis; Graves Disease|Graves' Disease|Hashimoto Disease; Dermatomyositis|Lupus Erythematosus, Cutaneous; Vulvar Vestibulitis; Hepatitis B, Chronic; Primary Biliary Cirrhosis; mannose-binding lectin levels; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Gestational Diabetes; diabetes, type 1 ; Acquired Immunodeficiency Syndrome|HIV Infections; Hepatitis B; lupus erythematosus; asthma; candidiasis; high-altitude illness; smoking; Papillomavirus Infections|Uterine Cervical Neoplasms; Albuminuria|Inflammation|Kidney Diseases; Guillain-Barre Syndrome; Hemoglobins; Meningeal Neoplasms|meningioma; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Crohn's disease; dementia; Meningococcal Infections; Dental Caries; Bacterial Vaginosis|Candidiasis, Vulvovaginal|Vaginosis, Bacterial; Leprosy; kawasaki disease; Acute Otitis Media and Early Epstein- Barr Virus Infection; Graft vs Host Disease|Infection; lung cancer ; Autoimmune Diseases|Infection; Birth Weight|Respiratory Distress Syndrome, Newborn; Crohn Disease|Crohn's disease; Dengue|Dengue Hemorrhagic Fever|Thrombocytopenia; rheumatoid arthritis; Candidiasis, Vulvovaginal|Vaginosis, Bacterial; Inflammation|Premature Birth; Abortion, Habitual; Severe Acute Respiratory Syndrome; Adult Respiratory Distress Syndrome|Respiratory Distress Syndrome, Adult|Sepsis|Systemic infection|Wounds and Injuries; Bronchiolitis Obliterans|Lung Diseases; Hepatitis B, Chronic|Liver Cirrhosis; arthritis; pregnancy loss; systemic lupus erythematosus; Pneumoconiosis; Otitis Media|Recurrence; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; Hepatitis B|Hepatitis B, Chronic; cardiovascular abnormalities; Arthritis, Rheumatoid|; Asthma|Respiratory Tract Infections; Bacterial Infections|Disease Susceptibility|Lupus Erythematosus, Systemic|Opportunistic Infections|Systemic lupus erythematosus; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Cystic Fibrosis|Disease Susceptibility|Pseudomonas Infections; Bacterial Infections|Cross Infection Initial triggering of complement GO:0001867;complement activation, lectin pathway;TAS|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006953;acute-phase response;TAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0006979;response to oxidative stress;NAS|GO:0008228;opsonization;TAS|GO:0042742;defense response to bacterium;TAS|GO:0044130;negative regulation of growth of symbiont in host;IDA|GO:0045087;innate immune response;IDA|GO:0048525;negative regulation of viral process;IDA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0051873;killing by host of symbiont cells;IEA GO:0005576;extracellular region;TAS|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;TAS GO:0004252;serine-type endopeptidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MBL2 https://www.ncbi.nlm.nih.gov/omim/?term=154545 http://www.informatics.jax.org/searchtool/Search.do?query=MBL2&submit=Quick%0D%11543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBL2 rs10824971 0.306909 0 0 1 0 0 intergenic intergenic intergenic MBL2(dist=500009),PCDH15(dist=531064) MBL2(dist=500009),PCDH15(dist=531064) ENSG00000231399(dist=233165),ENSG00000226296(dist=19363) Na Na Na Na Na Na Het;A>C 2800;154|127 Ref Hom;A>C 7155;2|263 N N - 10 55081439 55081439 C G snp intergenic MBL2 Mbl2 ENSG00000165471 mannose binding lectin 2 chr10:54525140-54531460 This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] H-ficolin mannan binding lectin levels; Hepatitis C|Liver Cirrhosis; Apoplexy|Brain Ischemia|Stroke; mannose-binding lectin levels, serum; Bacterial Vaginosis|Recurrence|Vaginosis, Bacterial; Asthma|Pulmonary Disease, Chronic Obstructive; Aortic Valve Insufficiency|Rheumatic Diseases; Liver Diseases; Meningococcal Infections|Pneumococcal Infections; cervical cancer; Cystic Fibrosis|Lung Diseases; Cerebral Palsy|Hemiplegia|Virus Diseases; Pre-Eclampsia; Cystic Fibrosis|Pseudomonas Infections; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Rheumatic Diseases|Rheumatism; Behcet's Disease; cytomegalovirus infection, post allograft kidney transplant; Candidiasis, Vulvovaginal|Recurrence; Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Fever|Neoplasms|Neutropenia; Anemia, Sickle Cell|Bacteremia|; Acquired Immunodeficiency Syndrome|HIV Infections|Pregnancy Complications, Infectious|[X]Human immunodeficiency virus disease; Premature Birth; Cerebral Palsy; Hypersensitivity; Bacterial Infections|Churg-Strauss Syndrome|Vasculitis|Wegener Granulomatosis; HIV Infections|Tuberculosis|[X]Human immunodeficiency virus disease; SARS (severe acute respiratory syndrome); Elephantiasis, Filarial; sepsis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Infection|Multiple Myeloma|Sepsis|Systemic infection; Arthritis, Rheumatoid|Cardiovascular Diseases|Rheumatoid Arthritis; Acute-Phase Reaction|Community-Acquired Infections|Pneumonia; Bacteremia|; Common Variable Immunodeficiency|; macular degeneration; Central Nervous System Fungal Infections|Cryptococcosis|; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; colorectal cancer; Infection; Asthma; candidiasis; Recurrence|Tonsillitis; asthma; HIV Infections; Herpes Genitalis|Recurrence; Cryptosporidiosis; Alveolar Bone Loss|Chronic Periodontitis|Gingival Hemorrhage|Periodontal Attachment Loss; Lupus Erythematosus, Systemic|Pneumonia|Systemic lupus erythematosus; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Sjogren's Syndrome|Systemic lupus erythematosus; celiac disease; Hepatitis C|Pregnancy Complications, Infectious; Community-Acquired Infections|Pneumonia, Bacterial|Pneumonia, Viral; Sepsis|Systemic infection; Fetal Growth Retardation|Infant, Premature, Diseases|Intrauterine growth retardation|Sepsis|Systemic infection; diabetes, type 1; Trachoma; Arthritis, Rheumatoid|Rheumatoid Arthritis; Chlamydia Infections; Chronic renal failure|Kidney Failure, Chronic; Infection|Multiple Myeloma; Carcinoma, Hepatocellular; coronary artery disease; blood pressure; Burkholderia Infections|Cystic Fibrosis|Pseudomonas Infections; Gastritis|Helicobacter Infections; hepatocellular carcinoma; Hepatitis C|Substance Abuse, Intravenous; Tuberculosis; normal variation; Central Nervous System Diseases|HIV Infections; HIV Infections|[X]Human immunodeficiency virus disease; Q fever; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Hepatitis C; Empyema, Pleural; Lymphoma, Large B-Cell, Diffuse; Hepatitis B, Chronic|Liver Failure; Hepatitis C|Remission, Spontaneous; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pre-Eclampsia; Carotid artery stenosis|Carotid Stenosis|Graft Occlusion, Vascular; cardiovascular disease; mennose-binding lectin deficiency; Anemia|Malaria; Lupus Erythematosus, Systemic; Anemia, Sickle Cell; HTLV-I Infections|HTLV-II Infections; otitis media; bladder cancer; Inflammation|Sjogren's Syndrome; Cardiovascular Diseases|Intracranial Thrombosis|Lupus Erythematosus, Systemic|Systemic lupus erythematosus|Thrombosis; Myocarditis|Rheumatic Fever; bronchopulmonary aspergillosis pulmonary aspergillosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Atherosclerosis|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; bacterial infection; bone marrow transplantation; Sjogren's Syndrome; Lupus; Critical Illness|Sepsis|Systemic infection; Duodenal Ulcer|Gastritis|Helicobacter Infections; Gram-Negative Bacterial Infections|Gram-Positive Bacterial Infections|Leukemia, Myeloid, Acute|Sepsis|Systemic infection; Bacterial Infections|Liver Failure|Postoperative Complications; Asthma|Hypersensitivity|Respiratory Tract Infections; Alcoholism; C-Reactive Protein; HIV-1 infection; malaria; MBL2 serum levels; Infection|Inflammation|Premature Birth; Chronic Periodontitis; Hypertrophy; Carotid artery stenosis|Carotid Stenosis|Recurrence; Arteriosclerosis|Mucocutaneous Lymph Node Syndrome; early polyarthritis; lymphoma; Vitiligo; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Type 2 Diabetes| edema | rosiglitazone; Leishmaniasis, Visceral; Septic Shock|Shock, Septic; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; mannose-binding lectin insufficiency; Birth Weight|Infant, Newborn, Diseases|Infection|Premature Birth; Arthritis, Juvenile Rheumatoid|; Alzheimer's disease ; Brain Ischemia|Stroke; Bacterial Infections|; Common Variable Immunodeficiency|Lung Diseases; Epstein-Barr Virus Infections; Bacteremia|Pneumococcal Infections; Anemia, Sickle Cell|Infarction|Ischemia|Sickle cell anemia|Vascular Diseases; Gastritis, Atrophic|Helicobacter Infections; AIDS-Related Opportunistic Infections|Tuberculosis|Tuberculosis, Pulmonary; Malaria, Falciparum|Parasitemia; Prosthesis Failure; Arthritis, Rheumatoid|Myocardial ischemia|Rheumatoid Arthritis; Hepatitis C, Chronic|Liver Cirrhosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus|Thrombosis; Type 2 diabetes; Parkinson Disease; Communicable Diseases|; Behcet Syndrome|Nervous System Diseases|Ulcer; meningococcal disease; Pancreatitis; Malaria, Falciparum|Parasitemia|Placenta Diseases|Pregnancy Complications, Parasitic; Amyloidosis|Arthritis, Rheumatoid|Liver Diseases|Rheumatoid Arthritis; HTLV-1 infection; Myocardial Infarction|Postoperative Complications; HIV; antiphospholipid syndrome cardiovascular disease cholesterol cholesterol, LDL kidney failure, chronic vascular disease; patent ductus arteriosus; Acute-Phase Reaction|Tuberculosis|Tuberculosis, Pulmonary; Hypertension; Hepatitis C, Chronic; Rheumatic Heart Disease; Chronic Obstructive Pulmonary Disease; Cardiovascular Diseases|Inflammation|Insulin Resistance; Arthritis, Rheumatoid; Cytomegalovirus Infections; Papillomavirus Infections; Mucocutaneous Lymph Node Syndrome; rheumatic heart disease; tuberculosis; Ischemia|Reperfusion Injury; epithelial ovarian cancer ; Tuberculosis|Tuberculosis, Pulmonary; breast cancer; Legionnaires' Disease|Pneumonia, Bacterial; Arthritis|Arthritis, Rheumatoid|Rheumatoid Arthritis; Recurrence|Respiratory Tract Infections; systemic inflammatory response syndrome; mannose-binding protein; Respiratory Tract Infections; Reperfusion Injury; Dermatitis, Atopic|Eczema allergic; lung cancer; Glomerulonephritis, IGA|IGA Glomerulonephritides; Bronchopulmonary Dysplasia|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn|Respiratory Tract Infections; Cystic Fibrosis|Liver Diseases; Anemia, Sickle Cell|Ischemia|Recurrence|Respiratory Tract Infections; Tuberculosis, Pulmonary; Bacterial Infections|Postoperative Complications; Bacterial Infections|Recurrence|Respiratory Tract Infections|Tuberculosis; Meningitis, Bacterial; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Stomach Neoplasms; HIV Infections|Viremia|[X]Human immunodeficiency virus disease; Community-Acquired Infections|Pneumonia, Bacterial|Pneumonia, Pneumococcal; null; Lymphoma, Non-Hodgkin; chronic obstructive pulmonary disease; cystic fibrosis; Pneumococcal Infections; Echocardiography; vulvar vestibulitis; Helicobacter Infections|Stomach Neoplasms; Periodontitis; herpes-associated recurrent lymphocytic meningitis; Graves Disease|Graves' Disease|Hashimoto Disease; Dermatomyositis|Lupus Erythematosus, Cutaneous; Vulvar Vestibulitis; Hepatitis B, Chronic; Primary Biliary Cirrhosis; mannose-binding lectin levels; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Gestational Diabetes; diabetes, type 1 ; Acquired Immunodeficiency Syndrome|HIV Infections; Hepatitis B; lupus erythematosus; asthma; candidiasis; high-altitude illness; smoking; Papillomavirus Infections|Uterine Cervical Neoplasms; Albuminuria|Inflammation|Kidney Diseases; Guillain-Barre Syndrome; Hemoglobins; Meningeal Neoplasms|meningioma; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Crohn's disease; dementia; Meningococcal Infections; Dental Caries; Bacterial Vaginosis|Candidiasis, Vulvovaginal|Vaginosis, Bacterial; Leprosy; kawasaki disease; Acute Otitis Media and Early Epstein- Barr Virus Infection; Graft vs Host Disease|Infection; lung cancer ; Autoimmune Diseases|Infection; Birth Weight|Respiratory Distress Syndrome, Newborn; Crohn Disease|Crohn's disease; Dengue|Dengue Hemorrhagic Fever|Thrombocytopenia; rheumatoid arthritis; Candidiasis, Vulvovaginal|Vaginosis, Bacterial; Inflammation|Premature Birth; Abortion, Habitual; Severe Acute Respiratory Syndrome; Adult Respiratory Distress Syndrome|Respiratory Distress Syndrome, Adult|Sepsis|Systemic infection|Wounds and Injuries; Bronchiolitis Obliterans|Lung Diseases; Hepatitis B, Chronic|Liver Cirrhosis; arthritis; pregnancy loss; systemic lupus erythematosus; Pneumoconiosis; Otitis Media|Recurrence; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; Hepatitis B|Hepatitis B, Chronic; cardiovascular abnormalities; Arthritis, Rheumatoid|; Asthma|Respiratory Tract Infections; Bacterial Infections|Disease Susceptibility|Lupus Erythematosus, Systemic|Opportunistic Infections|Systemic lupus erythematosus; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Cystic Fibrosis|Disease Susceptibility|Pseudomonas Infections; Bacterial Infections|Cross Infection Initial triggering of complement GO:0001867;complement activation, lectin pathway;TAS|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006953;acute-phase response;TAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0006979;response to oxidative stress;NAS|GO:0008228;opsonization;TAS|GO:0042742;defense response to bacterium;TAS|GO:0044130;negative regulation of growth of symbiont in host;IDA|GO:0045087;innate immune response;IDA|GO:0048525;negative regulation of viral process;IDA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0051873;killing by host of symbiont cells;IEA GO:0005576;extracellular region;TAS|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;TAS GO:0004252;serine-type endopeptidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MBL2 https://www.ncbi.nlm.nih.gov/omim/?term=154545 http://www.informatics.jax.org/searchtool/Search.do?query=MBL2&submit=Quick%0D%11543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBL2 rs16937385 0.275759 0 0 1 0 0 intergenic intergenic intergenic MBL2(dist=549979),PCDH15(dist=481094) MBL2(dist=549979),PCDH15(dist=481094) ENSG00000226296(dist=10614),ENSG00000252161(dist=136518) Na Na Na Na Na Na Het;C>G 97;1|5 Ref Hom;C>G 884;0|33 N N - 10 5681038 5681038 C T snp UTR3 *2024G>A ASB13 Asb13 ENSG00000196372 ankyrin repeat and SOCS box containing 13 chr10:5680830-5708558 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010] Narcolepsy Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASB13 https://www.ncbi.nlm.nih.gov/omim/?term=615055 http://www.informatics.jax.org/searchtool/Search.do?query=ASB13&submit=Quick%0D%16340ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB13 rs1132293 0.201478 0 0 1 0 0 UTR3 UTR3 UTR3 ASB13(NM_024701:c.*1628G>A) ASB13(uc001iig.2:c.*1628G>A,uc009xic.2:c.*1628G>A) ENSG00000196372(ENST00000459912:c.*2024G>A,ENST00000357700:c.*1628G>A) Na Na Na Na Na Na Het;C>T 1324;106|62 Het;C>T 1571;68|67 Hom;C>T 4051;0|145 N N - 10 5932475 5932475 T C snp intronic FBXO18 Fbxo18 ENSG00000134452 F-box protein, helicase, 18 chr10:5931535-5979556 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Alzheimer's disease ; HIV Infections|[X]Human immunodeficiency virus disease GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0000737;DNA catabolic process, endonucleolytic;IMP|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008219;cell death;IDA|GO:0016567;protein ubiquitination;IDA|GO:0031297;replication fork processing;IDA|GO:0032508;DNA duplex unwinding;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0048478;replication fork protection;ISS|GO:0072429;response to intra-S DNA damage checkpoint signaling;IMP|GO:1902231;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA GO:0000785;chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003678;DNA helicase activity;IDA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015616;DNA translocase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043138;3'-5' DNA helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBXO18 https://www.uniprot.org/uniprot/Q8NFZ0 https://www.ncbi.nlm.nih.gov/omim/?term=607222 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO18&submit=Quick%0D%6980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO18 rs10905405 0.558506 0 0 1 0 0 intronic intronic intronic FBXO18 FBXO18 ENSG00000134452 Na Na Na Na Na Na Het;T>C 190;7|8 Het;T>C 81;3|4 Hom;T>C 287;0|10 N N - 10 60323021 60323021 G C snp intronic BICC1 Bicc1 ENSG00000122870 BicC family RNA binding protein 1 chr10:60272900-60591195 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BICC1 https://www.uniprot.org/uniprot/Q9H694 https://www.ncbi.nlm.nih.gov/omim/?term=614295 http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1 rs1658441 0.449081 0 0 1 0 0 intronic intronic intronic BICC1 BICC1 ENSG00000122870 Na Na Na Na Na Na Het;G>C 136;14|7 Ref Hom;G>C 513;0|17 N N - 10 60563062 60563062 G C snp intronic BICC1 Bicc1 ENSG00000122870 BicC family RNA binding protein 1 chr10:60272900-60591195 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BICC1 https://www.uniprot.org/uniprot/Q9H694 https://www.ncbi.nlm.nih.gov/omim/?term=614295 http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1 rs4245600 0.511182 0 0 1 0 0 intronic intronic intronic BICC1 BICC1 ENSG00000122870 Na Na Na Na Na Na Het;G>C 464;16|18 Ref Hom;G>C 887;0|27 N N - 10 60573753 60573753 G T snp nonsynonymous SNV G1463T R488L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral BICC1 Bicc1 ENSG00000122870 BicC family RNA binding protein 1 chr10:60272900-60591195 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BICC1 https://www.uniprot.org/uniprot/Q9H694 https://www.ncbi.nlm.nih.gov/omim/?term=614295 http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1 rs9416746 0.746605 0.7512 0.7469 0.27 3 11 intronic exonic exonic BICC1 BICC1 ENSG00000122870 Na nonsynonymous SNV unknown Na BICC1:uc001jkj.1:exon10:c.G1463T:p.R488L, UNKNOWN Het;G>T 1686;72|69 Ref Hom;G>T 3752;2|133 N N - 10 60577393 60577393 T C snp synonymous SNV T2605C L869L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BICC1 Bicc1 ENSG00000122870 BicC family RNA binding protein 1 chr10:60272900-60591195 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BICC1 https://www.uniprot.org/uniprot/Q9H694 https://www.ncbi.nlm.nih.gov/omim/?term=614295 http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1 rs4344442 0.73742 0.7380 0.7475 1 0 0 exonic exonic exonic BICC1 BICC1 ENSG00000122870 synonymous SNV synonymous SNV unknown BICC1:NM_001080512:exon19:c.T2605C:p.L869L, BICC1:uc001jki.1:exon19:c.T2605C:p.L869L, UNKNOWN Het;T>C 1245;53|59 Ref Hom;T>C 3243;0|118 N N - 10 60588553 60588553 T C snp nonsynonymous SNV T2827C S943P polar,hydrophilic,neutral hydrophobic,neutral BICC1 Bicc1 ENSG00000122870 BicC family RNA binding protein 1 chr10:60272900-60591195 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] Alzheimer's disease ; Tobacco Use Disorder; Alzheimer's Disease; Metabolism; depression Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BICC1 https://www.uniprot.org/uniprot/Q9H694 https://www.ncbi.nlm.nih.gov/omim/?term=614295 http://www.informatics.jax.org/searchtool/Search.do?query=BICC1&submit=Quick%0D%5464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BICC1 rs4948550 0.607428 0.6205 0.7003 0.15 2 13 exonic exonic exonic BICC1 BICC1 ENSG00000122870 nonsynonymous SNV nonsynonymous SNV unknown BICC1:NM_001080512:exon21:c.T2827C:p.S943P, BICC1:uc001jki.1:exon21:c.T2827C:p.S943P, UNKNOWN Het;T>C 1202;54|55 Ref Hom;T>C 3357;0|125 N N - 10 6061781 6061781 T C snp intronic IL2RA Il2ra ENSG00000134460 interleukin 2 receptor subunit alpha chr10:6052652-6104288 The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009] Lupus Erythematosus, Systemic|Vasculitis; Arthritis, Rheumatoid|Atrial Fibrillation|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Multiple Sclerosis|Rheumatoid Arthritis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Disease Progression; Type 2 diabetes|reduced prostate cancer risk; Measles|Mumps|Rubella; asthma; Inflammation; Multiple Sclerosis; latent autoimmune diabetes; Crohn Disease|Crohn's disease; diabetes, type 1 ; Alzheimer's disease ; type 1 diabetes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hyperparathyroidism, Secondary; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Diabetes mellitus; Arthritis, Rheumatoid; Graves' disease; Infection|Inflammation|Premature Birth; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Diabetes Mellitus, Type 1|Prediabetic State; inflammatory bowel disease ; Addison Disease|; Precursor Cell Lymphoblastic Leukemia-Lymphoma; diabetes, type 1; IgE levels; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; multiple sclerosis; Celiac Disease|; Autoimmune Diseases|Thyroid Diseases; Alopecia Areata; measles vaccine immunity; Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 1; Autoimmune Diseases|melanoma|Vitiligo; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; Alopecia Areata|Autoimmune Diseases; Vitiligo; Premature Birth; Inflammation|Premature Birth; Arthritis, Juvenile Rheumatoid|; HIV; Crohn Disease; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Giant Cell Arteritis|Temporal Arteritis Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age. Interleukin receptor SHC signaling GO:0000165;MAPK cascade;TAS|GO:0002376;immune system process;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0002664;regulation of T cell tolerance induction;IMP|GO:0006915;apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007219;Notch signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0038110;interleukin-2-mediated signaling pathway;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0046013;regulation of T cell homeostatic proliferation;IEA|GO:0050672;negative regulation of lymphocyte proliferation;IEA|GO:0050687;negative regulation of defense response to virus;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050777;negative regulation of immune response;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004911;interleukin-2 receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0008144;drug binding;IEA|GO:0019976;interleukin-2 binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/IL2RA https://www.uniprot.org/uniprot/P01589 https://hpo.jax.org/app/browse/search?q=IL2RA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147730 http://www.informatics.jax.org/searchtool/Search.do?query=IL2RA&submit=Quick%0D%6982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL2RA rs10752175 0.808107 0.8951 0 1 0 0 intronic intronic intronic IL2RA IL2RA ENSG00000134460 Na Na Na Na Na Na Het;T>C 938;47|44 Het;T>C 742;33|31 Hom;T>C 1910;0|68 N N - 10 6066462 6066462 G A snp intronic IL2RA Il2ra ENSG00000134460 interleukin 2 receptor subunit alpha chr10:6052652-6104288 The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009] Lupus Erythematosus, Systemic|Vasculitis; Arthritis, Rheumatoid|Atrial Fibrillation|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Multiple Sclerosis|Rheumatoid Arthritis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Disease Progression; Type 2 diabetes|reduced prostate cancer risk; Measles|Mumps|Rubella; asthma; Inflammation; Multiple Sclerosis; latent autoimmune diabetes; Crohn Disease|Crohn's disease; diabetes, type 1 ; Alzheimer's disease ; type 1 diabetes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hyperparathyroidism, Secondary; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Diabetes mellitus; Arthritis, Rheumatoid; Graves' disease; Infection|Inflammation|Premature Birth; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Diabetes Mellitus, Type 1|Prediabetic State; inflammatory bowel disease ; Addison Disease|; Precursor Cell Lymphoblastic Leukemia-Lymphoma; diabetes, type 1; IgE levels; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; multiple sclerosis; Celiac Disease|; Autoimmune Diseases|Thyroid Diseases; Alopecia Areata; measles vaccine immunity; Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 1; Autoimmune Diseases|melanoma|Vitiligo; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; Alopecia Areata|Autoimmune Diseases; Vitiligo; Premature Birth; Inflammation|Premature Birth; Arthritis, Juvenile Rheumatoid|; HIV; Crohn Disease; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Giant Cell Arteritis|Temporal Arteritis Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age. Interleukin receptor SHC signaling GO:0000165;MAPK cascade;TAS|GO:0002376;immune system process;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0002664;regulation of T cell tolerance induction;IMP|GO:0006915;apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007219;Notch signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0038110;interleukin-2-mediated signaling pathway;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0046013;regulation of T cell homeostatic proliferation;IEA|GO:0050672;negative regulation of lymphocyte proliferation;IEA|GO:0050687;negative regulation of defense response to virus;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050777;negative regulation of immune response;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004911;interleukin-2 receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0008144;drug binding;IEA|GO:0019976;interleukin-2 binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/IL2RA https://www.uniprot.org/uniprot/P01589 https://hpo.jax.org/app/browse/search?q=IL2RA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147730 http://www.informatics.jax.org/searchtool/Search.do?query=IL2RA&submit=Quick%0D%6982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL2RA rs12722574 0.248203 0 0 1 0 0 intronic intronic intronic IL2RA IL2RA ENSG00000134460 Na Na Na Na Na Na Het;G>A 32;5|2 Het;G>A 67;5|3 Hom;G>A 166;0|5 N N - 10 60933681 60933705 GTTTTTTTTTTTTTTTTTTTTTTTT G indel intergenic LINC00844 rs368316005 0 0 0 1 0 0 intergenic intergenic intergenic LINC00844(dist=172304),PHYHIPL(dist=2643) BICC1(dist=344836),PHYHIPL(dist=2643) ENSG00000226557(dist=35739),ENSG00000165443(dist=2645) Na Na Na Na Na Na Het;-TTTTTTTTTTTTTTTTTTTTTTTT 1052;2|25 Ref Hom;-TTTTTTTTTTTTTTTTTTTTTTTT 899;0|20 N N - 10 61083690 61083690 A AGTTG indel intronic FAM13C Fam13c ENSG00000148541 family with sequence similarity 13 member C chr10:61005890-61122939 Arteries; Alzheimer's disease ; Stroke; Triglycerides; Monocytes; Cardiovascular Diseases; Hemoglobin A, Glycosylated GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM13C https://www.uniprot.org/uniprot/Q8NE31 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13C&submit=Quick%0D%9133ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13C rs34090373 0.486821 0 0 1 0 0 intronic intronic intronic FAM13C FAM13C ENSG00000148541 Na Na Na Na Na Na Het;+GTTG 836;27|20 Ref Hom;+GTTG 2422;0|50 N N - 10 61087435 61087435 G A snp UTR3 *295C>T FAM13C Fam13c ENSG00000148541 family with sequence similarity 13 member C chr10:61005890-61122939 Arteries; Alzheimer's disease ; Stroke; Triglycerides; Monocytes; Cardiovascular Diseases; Hemoglobin A, Glycosylated GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM13C https://www.uniprot.org/uniprot/Q8NE31 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13C&submit=Quick%0D%9133ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13C rs70004 0.533147 0 0 1 0 0 intronic intronic UTR3 FAM13C FAM13C ENSG00000148541(ENST00000504410:c.*295C>T) Na Na Na Na Na Na Het;G>A 500;30|25 Ref Hom;G>A 1404;0|56 N N - 10 61564020 61564022 CTT C indel intronic CCDC6 Ccdc6 ENSG00000108091 coiled-coil domain containing 6 chr10:61548521-61666414 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] Alcohol Drinking; thyroid cancer; Tobacco Use Disorder; Alzheimer's disease ; Arteries; Carcinoma|Thyroid Neoplasms GO:0007010;cytoskeleton organization;IEA|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC6 https://www.uniprot.org/uniprot/Q16204 https://www.ncbi.nlm.nih.gov/omim/?term=601985 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC6&submit=Quick%0D%3677ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC6 rs3841635 0.39377 0 0 1 0 0 intronic intronic intronic CCDC6 CCDC6 ENSG00000108091 Na Na Na Na Na Na Het;-TT 212;1|6 Ref Hom;-TT 352;0|9 N N - 10 61572720 61572720 G C snp intronic CCDC6 Ccdc6 ENSG00000108091 coiled-coil domain containing 6 chr10:61548521-61666414 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] Alcohol Drinking; thyroid cancer; Tobacco Use Disorder; Alzheimer's disease ; Arteries; Carcinoma|Thyroid Neoplasms GO:0007010;cytoskeleton organization;IEA|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC6 https://www.uniprot.org/uniprot/Q16204 https://www.ncbi.nlm.nih.gov/omim/?term=601985 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC6&submit=Quick%0D%3677ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC6 rs7909766 0.530351 0 0 1 0 0 intronic intronic intronic CCDC6 CCDC6 ENSG00000108091 Na Na Na Na Na Na Het;G>C 163;2|5 Ref Hom;G>C 99;0|4 N N - 10 61574694 61574694 C CA indel intronic CCDC6 Ccdc6 ENSG00000108091 coiled-coil domain containing 6 chr10:61548521-61666414 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] Alcohol Drinking; thyroid cancer; Tobacco Use Disorder; Alzheimer's disease ; Arteries; Carcinoma|Thyroid Neoplasms GO:0007010;cytoskeleton organization;IEA|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC6 https://www.uniprot.org/uniprot/Q16204 https://www.ncbi.nlm.nih.gov/omim/?term=601985 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC6&submit=Quick%0D%3677ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC6 rs3830506 0.51877 0 0 1 0 0 intronic intronic intronic CCDC6 CCDC6 ENSG00000108091 Na Na Na Na Na Na Het;+A 54;4|3 Ref Hom;+A 225;0|7 N N - 10 61612199 61612199 T C snp intronic CCDC6 Ccdc6 ENSG00000108091 coiled-coil domain containing 6 chr10:61548521-61666414 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] Alcohol Drinking; thyroid cancer; Tobacco Use Disorder; Alzheimer's disease ; Arteries; Carcinoma|Thyroid Neoplasms GO:0007010;cytoskeleton organization;IEA|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC6 https://www.uniprot.org/uniprot/Q16204 https://www.ncbi.nlm.nih.gov/omim/?term=601985 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC6&submit=Quick%0D%3677ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC6 rs2271561 0.134385 0 0 1 0 0 intronic intronic intronic CCDC6 CCDC6 ENSG00000108091 Na Na Na Na Na Na Het;T>C 168;9|7 Ref Hom;T>C 908;0|26 N N - 10 61719159 61719159 C T snp ncRNA_exonic LINC01553 rs10994091 0.488419 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR5 LINC01553 C10orf40 ENSG00000235931(ENST00000444900:c.-730G>A) Na Na Na Na Na Na Het;C>T 1550;93|70 Ref Hom;C>T 6988;0|256 N N - 10 61719385 61719385 T G snp ncRNA_exonic LINC01553 rs12776262 0.292732 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR5 LINC01553 C10orf40 ENSG00000235931(ENST00000521074:c.-956A>C,ENST00000444900:c.-956A>C) Na Na Na Na Na Na Het;T>G 1696;73|74 Ref Hom;T>G 4841;2|177 N N - 10 61719823 61719831 CTTTGTTTG C indel ncRNA_intronic C10orf40 rs5785425 0.489816 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic LINC01553 C10orf40 ENSG00000235931 Na Na Na Na Na Na Het;-TTTGTTTG 41;2|2 Ref Hom;-TTTGTTTG 189;0|5 N N - 10 61802353 61802353 A T snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs2393604 0.709465 0 0 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;A>T 93;9|5 Het;A>T 234;14|8 Hom;A>T 772;0|23 N N - 10 61802374 61802374 A T snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs2393605 0.709864 0 0 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;A>T 320;17|9 Het;A>T 425;17|12 Hom;A>T 1561;0|35 N N - 10 61802375 61802375 A T snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs2393606 0.709864 0 0 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;A>T 320;17|10 Het;A>T 425;17|12 Hom;A>T 1561;0|36 N N - 10 61802550 61802550 A T snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs9888033 0.611821 0.5868 0.5760 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;A>T 731;29|33 Het;A>T 696;26|32 Hom;A>T 1613;0|58 N N - 10 61802561 61802561 G T snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs2393607 0.710463 0.7313 0.7288 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;G>T 660;19|28 Het;G>T 617;21|28 Hom;G>T 1250;0|45 N N - 10 61819049 61819049 T G snp ncRNA_intronic AL592430.1 rs10733757 0.84345 0.8016 0.8123 1 0 0 intronic intronic ncRNA_intronic ANK3 ANK3 ENSG00000232682 Na Na Na Na Na Na Het;T>G 755;19|32 Het;T>G 660;18|29 Hom;T>G 1634;0|57 N N - 10 61823109 61823109 A G snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs4568956 0.746406 0 0 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;A>G 395;18|14 Het;A>G 358;9|14 Hom;A>G 480;0|14 N N - 10 62088266 62088266 T C snp intronic ANK3 Ank3 ENSG00000151150 ankyrin 3 chr10:61786056-62493248 Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Triglycerides; Bipolar disorder; Schizophrenia; Tobacco Use Disorder; schizophrenia; Glomerular Filtration Rate; Bipolar Disorder; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; Arteries; Creatinine Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. COPI-mediated anterograde transport GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;ISS|GO:0007528;neuromuscular junction development;ISS|GO:0010628;positive regulation of gene expression;ISS|GO:0010650;positive regulation of cell communication by electrical coupling;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0010960;magnesium ion homeostasis;ISS|GO:0019228;neuronal action potential;ISS|GO:0034112;positive regulation of homotypic cell-cell adhesion;ISS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043266;regulation of potassium ion transport;ISS|GO:0045184;establishment of protein localization;IMP|GO:0045838;positive regulation of membrane potential;ISS|GO:0071286;cellular response to magnesium ion;ISS|GO:0071709;membrane assembly;IMP|GO:0072659;protein localization to plasma membrane;IGI|GO:0072660;maintenance of protein location in plasma membrane;IGI|GO:0072661;protein targeting to plasma membrane;IMP|GO:0090314;positive regulation of protein targeting to membrane;ISS|GO:1900827;positive regulation of membrane depolarization during cardiac muscle cell action potential;ISS|GO:1902260;negative regulation of delayed rectifier potassium channel activity;ISS|GO:2000651;positive regulation of sodium ion transmembrane transporter activity;ISS|GO:2001259;positive regulation of cation channel activity;ISS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IDA|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;ISS|GO:0014704;intercalated disc;ISS|GO:0014731;spectrin-associated cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016328;lateral plasma membrane;IDA|GO:0016529;sarcoplasmic reticulum;ISS|GO:0030018;Z disc;ISS|GO:0030054;cell junction;IEA|GO:0030315;T-tubule;ISS|GO:0030424;axon;IEA|GO:0030425;dendrite;ISS|GO:0031594;neuromuscular junction;ISS|GO:0033268;node of Ranvier;ISS|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043034;costamere;TAS|GO:0043194;axon initial segment;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;ISS|GO:0030507;spectrin binding;IBA|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;ISS|GO:0045296;cadherin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ANK3 https://www.uniprot.org/uniprot/Q12955 https://hpo.jax.org/app/browse/search?q=ANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600465 http://www.informatics.jax.org/searchtool/Search.do?query=ANK3&submit=Quick%0D%183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANK3 rs10740023 0.710863 0 0 1 0 0 intronic intronic intronic ANK3 ANK3 ENSG00000151150 Na Na Na Na Na Na Het;T>C 141;14|8 Het;T>C 282;15|16 Hom;T>C 1095;0|40 N N - 10 62836072 62836072 T C snp intergenic LINC00845 rs4948443 0.556909 0 0 1 0 0 intergenic intergenic intergenic LINC00845(dist=49897),TMEM26(dist=330329) RHOBTB1(dist=74874),TMEM26(dist=330329) ENSG00000227244(dist=49894),ENSG00000196932(dist=330329) Na Na Na Na Na Na Het;T>C 836;37|32 Ref Hom;T>C 1712;0|60 N N - 10 64100181 64100181 A C snp ncRNA_exonic LOC283045 rs7068108 0.300519 0 0 1 0 0 ncRNA_exonic intronic intergenic LOC283045 ZNF365 ENSG00000234756(dist=36389),ENSG00000240940(dist=9587) Na Na Na Na Na Na Het;A>C 154;2|5 Ref Hom;A>C 127;0|4 N N - 10 64100417 64100417 G A snp ncRNA_exonic LOC283045 rs7068786 0.335663 0 0 1 0 0 ncRNA_exonic intronic intergenic LOC283045 ZNF365 ENSG00000234756(dist=36625),ENSG00000240940(dist=9351) Na Na Na Na Na Na Het;G>A 267;6|14 Ref Hom;G>A 668;0|24 N N - 10 64112690 64112690 G A snp ncRNA_intronic LOC283045 rs10437344 0.291733 0 0 1 0 0 ncRNA_intronic intronic intergenic LOC283045 ZNF365 ENSG00000240940(dist=2642),ENSG00000138311(dist=21261) Na Na Na Na Na Na Het;G>A 460;45|27 Ref Hom;G>A 2146;2|82 N N - 10 64136710 64136712 CAG C indel intronic ZNF365 Zfp365 ENSG00000138311 zinc finger protein 365 chr10:64133951-64431771 This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010] Crohn Disease|Crohn's disease; Crohn's disease; Inflammatory Bowel Diseases; smoking cessation; Crohn Disease; Intelligence; Tobacco Use Disorder; Alzheimer's disease ; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Erythrocytes Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes. GO:0000281;mitotic cytokinesis;IMP|GO:0033566;gamma-tubulin complex localization;IMP GO:0000930;gamma-tubulin complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ZNF365 https://www.uniprot.org/uniprot/Q70YC4 https://hpo.jax.org/app/browse/search?q=ZNF365&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607818 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF365&submit=Quick%0D%7705ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF365 rs149800343 0.273363 0.3070 0.2910 1 0 0 intronic intronic intronic ZNF365 ZNF365 ENSG00000138311 Na Na Na Na Na Na Het;-AG 1273;28|34 Ref Hom;-AG 1457;2|37 N N - 10 64415184 64415184 A G snp nonsynonymous SNV A184G T62A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZNF365 Zfp365 ENSG00000138311 zinc finger protein 365 chr10:64133951-64431771 This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010] Crohn Disease|Crohn's disease; Crohn's disease; Inflammatory Bowel Diseases; smoking cessation; Crohn Disease; Intelligence; Tobacco Use Disorder; Alzheimer's disease ; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Erythrocytes Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes. GO:0000281;mitotic cytokinesis;IMP|GO:0033566;gamma-tubulin complex localization;IMP GO:0000930;gamma-tubulin complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ZNF365 https://www.uniprot.org/uniprot/Q70YC4 https://hpo.jax.org/app/browse/search?q=ZNF365&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607818 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF365&submit=Quick%0D%7705ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF365 rs7076156 0.871206 0.8056 0.7939 0.17 2 12 exonic exonic exonic ZNF365 ZNF365 ENSG00000138311 nonsynonymous SNV nonsynonymous SNV unknown ZNF365:NM_199452:exon4:c.A184G:p.T62A, ZNF365:uc001jmd.1:exon4:c.A184G:p.T62A, UNKNOWN Het;A>G 1524;81|67 Het;A>G 1564;71|72 Hom;A>G 3628;0|129 N N - 10 64776283 64776283 C A snp intergenic EGR2 Egr2 ENSG00000122877 early growth response 2 chr10:64571756-64679660 The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] ovarian cancer; neuropathy, Charcot-Marie-Tooth; Charcot-Marie-Tooth disease; monocyte chemoattractant protein 1 (66-77); Schizophrenia; Charcot-Marie-Tooth type 1 disease; Alzheimer's disease ; Bone Mineral Density; Sarcoma, Ewing; peripheral demyelinating neuropathies; neuropathy; Lupus Erythematosus, Systemic|Systemic lupus erythematosus Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006611;protein export from nucleus;IEA|GO:0007420;brain development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0007611;learning or memory;IEA|GO:0007622;rhythmic behavior;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0014037;Schwann cell differentiation;IEA|GO:0016925;protein sumoylation;IEA|GO:0021569;rhombomere 3 development;IEA|GO:0021612;facial nerve structural organization;IEA|GO:0021660;rhombomere 3 formation;IEA|GO:0021666;rhombomere 5 formation;IEA|GO:0030278;regulation of ossification;IEA|GO:0032868;response to insulin;IEA|GO:0035284;brain segmentation;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042552;myelination;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0071310;cellular response to organic substance;IEA GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0016874;ligase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0071837;HMG box domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EGR2 https://www.uniprot.org/uniprot/P11161 https://hpo.jax.org/app/browse/search?q=EGR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=129010 http://www.informatics.jax.org/searchtool/Search.do?query=EGR2&submit=Quick%0D%5466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EGR2 rs1553787 0.603035 0 0 1 0 0 intergenic intergenic intergenic EGR2(dist=197356),NRBF2(dist=116724) EGR2(dist=197356),NRBF2(dist=116724) NONE(dist=NONE),ENSG00000199446(dist=93616) Na Na Na Na Na Na Het;C>A 121;3|5 Ref Hom;C>A 95;0|4 N N - 10 6521147 6521147 G A snp intronic PRKCQ Prkcq ENSG00000065675 protein kinase C theta chr10:6469105-6622263 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] type 1 diabetes; Jaw Abnormalities; Exercise Test; Celiac Disease|; Alzheimer Disease; Alzheimer's disease ; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Iron; diabetes, type 1 ; Blood Proteins; Coronary Artery Disease; Glucose; Arthritis, Rheumatoid|; Diabetes Mellitus, Type 1; Mental Competency; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 diabetes|reduced prostate cancer risk; Stroke; Cell Adhesion Molecules; Lipids; Hip; Arthritis, Rheumatoid|Rheumatoid Arthritis; Myocardial Infarction; Body Height; rheumatoid arthritis; Wegener's granulomatosis; Hypertension; Leprosy; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; hypertension; Body Weight; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0007411;axon guidance;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032740;positive regulation of interleukin-17 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070233;negative regulation of T cell apoptotic process;IMP|GO:0090330;regulation of platelet aggregation;IEA|GO:0097194;execution phase of apoptosis;TAS|GO:1904355;positive regulation of telomere capping;IMP|GO:2000318;positive regulation of T-helper 17 type immune response;IEA|GO:2000570;positive regulation of T-helper 2 cell activation;IEA GO:0001772;immunological synapse;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRKCQ https://www.uniprot.org/uniprot/Q04759 https://www.ncbi.nlm.nih.gov/omim/?term=600448 http://www.informatics.jax.org/searchtool/Search.do?query=PRKCQ&submit=Quick%0D%1190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCQ rs643610 0.202276 0.1871 0.1941 1 0 0 intronic intronic intronic PRKCQ PRKCQ ENSG00000065675 Na Na Na Na Na Na Het;G>A 1087;60|50 Het;G>A 1432;45|63 Hom;G>A 3174;0|114 N N - 10 6527344 6527344 A C snp intronic PRKCQ Prkcq ENSG00000065675 protein kinase C theta chr10:6469105-6622263 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] type 1 diabetes; Jaw Abnormalities; Exercise Test; Celiac Disease|; Alzheimer Disease; Alzheimer's disease ; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Iron; diabetes, type 1 ; Blood Proteins; Coronary Artery Disease; Glucose; Arthritis, Rheumatoid|; Diabetes Mellitus, Type 1; Mental Competency; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 diabetes|reduced prostate cancer risk; Stroke; Cell Adhesion Molecules; Lipids; Hip; Arthritis, Rheumatoid|Rheumatoid Arthritis; Myocardial Infarction; Body Height; rheumatoid arthritis; Wegener's granulomatosis; Hypertension; Leprosy; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; hypertension; Body Weight; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0007411;axon guidance;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032740;positive regulation of interleukin-17 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070233;negative regulation of T cell apoptotic process;IMP|GO:0090330;regulation of platelet aggregation;IEA|GO:0097194;execution phase of apoptosis;TAS|GO:1904355;positive regulation of telomere capping;IMP|GO:2000318;positive regulation of T-helper 17 type immune response;IEA|GO:2000570;positive regulation of T-helper 2 cell activation;IEA GO:0001772;immunological synapse;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRKCQ https://www.uniprot.org/uniprot/Q04759 https://www.ncbi.nlm.nih.gov/omim/?term=600448 http://www.informatics.jax.org/searchtool/Search.do?query=PRKCQ&submit=Quick%0D%1190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCQ rs661891 0.428914 0 0 1 0 0 intronic intronic intronic PRKCQ PRKCQ ENSG00000065675 Na Na Na Na Na Na Het;A>C 1535;52|56 Het;A>C 1437;31|53 Hom;A>C 3369;0|123 N N - 10 6533877 6533877 A G snp intronic PRKCQ Prkcq ENSG00000065675 protein kinase C theta chr10:6469105-6622263 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] type 1 diabetes; Jaw Abnormalities; Exercise Test; Celiac Disease|; Alzheimer Disease; Alzheimer's disease ; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Iron; diabetes, type 1 ; Blood Proteins; Coronary Artery Disease; Glucose; Arthritis, Rheumatoid|; Diabetes Mellitus, Type 1; Mental Competency; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 diabetes|reduced prostate cancer risk; Stroke; Cell Adhesion Molecules; Lipids; Hip; Arthritis, Rheumatoid|Rheumatoid Arthritis; Myocardial Infarction; Body Height; rheumatoid arthritis; Wegener's granulomatosis; Hypertension; Leprosy; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; hypertension; Body Weight; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0007411;axon guidance;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032740;positive regulation of interleukin-17 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070233;negative regulation of T cell apoptotic process;IMP|GO:0090330;regulation of platelet aggregation;IEA|GO:0097194;execution phase of apoptosis;TAS|GO:1904355;positive regulation of telomere capping;IMP|GO:2000318;positive regulation of T-helper 17 type immune response;IEA|GO:2000570;positive regulation of T-helper 2 cell activation;IEA GO:0001772;immunological synapse;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRKCQ https://www.uniprot.org/uniprot/Q04759 https://www.ncbi.nlm.nih.gov/omim/?term=600448 http://www.informatics.jax.org/searchtool/Search.do?query=PRKCQ&submit=Quick%0D%1190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCQ rs3815975 0.437899 0 0 1 0 0 intronic intronic intronic PRKCQ PRKCQ ENSG00000065675 Na Na Na Na Na Na Het;A>G 1383;36|49 Het;A>G 1067;35|39 Hom;A>G 2436;0|80 N N - 10 6533900 6533900 C T snp intronic PRKCQ Prkcq ENSG00000065675 protein kinase C theta chr10:6469105-6622263 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] type 1 diabetes; Jaw Abnormalities; Exercise Test; Celiac Disease|; Alzheimer Disease; Alzheimer's disease ; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Iron; diabetes, type 1 ; Blood Proteins; Coronary Artery Disease; Glucose; Arthritis, Rheumatoid|; Diabetes Mellitus, Type 1; Mental Competency; Narcolepsy; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Type 2 diabetes|reduced prostate cancer risk; Stroke; Cell Adhesion Molecules; Lipids; Hip; Arthritis, Rheumatoid|Rheumatoid Arthritis; Myocardial Infarction; Body Height; rheumatoid arthritis; Wegener's granulomatosis; Hypertension; Leprosy; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; hypertension; Body Weight; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006954;inflammatory response;IEA|GO:0007411;axon guidance;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032740;positive regulation of interleukin-17 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0045086;positive regulation of interleukin-2 biosynthetic process;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050870;positive regulation of T cell activation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060326;cell chemotaxis;IMP|GO:0070233;negative regulation of T cell apoptotic process;IMP|GO:0090330;regulation of platelet aggregation;IEA|GO:0097194;execution phase of apoptosis;TAS|GO:1904355;positive regulation of telomere capping;IMP|GO:2000318;positive regulation of T-helper 17 type immune response;IEA|GO:2000570;positive regulation of T-helper 2 cell activation;IEA GO:0001772;immunological synapse;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRKCQ https://www.uniprot.org/uniprot/Q04759 https://www.ncbi.nlm.nih.gov/omim/?term=600448 http://www.informatics.jax.org/searchtool/Search.do?query=PRKCQ&submit=Quick%0D%1190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCQ rs3815974 0.423522 0 0 1 0 0 intronic intronic intronic PRKCQ PRKCQ ENSG00000065675 Na Na Na Na Na Na Het;C>T 972;19|35 Het;C>T 745;19|26 Hom;C>T 1346;0|43 N N - 10 6663938 6663938 G A snp ncRNA_intronic LOC101928150 rs10752028 0.546526 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928150 PRKCQ-AS1(dist=36615),LINC00707(dist=157622) ENSG00000225948 Na Na Na Na Na Na Het;G>A 357;11|9 Het;G>A 356;19|11 Hom;G>A 760;0|18 N N - 10 6663945 6663945 T C snp ncRNA_intronic LOC101928150 rs10752029 0.546526 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928150 PRKCQ-AS1(dist=36622),LINC00707(dist=157615) ENSG00000225948 Na Na Na Na Na Na Het;T>C 357;11|10 Het;T>C 341;17|10 Hom;T>C 725;0|15 N N - 10 6681163 6681163 A G snp ncRNA_exonic LOC101928150 rs1556009 0.685703 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928150 PRKCQ-AS1(dist=53840),LINC00707(dist=140397) ENSG00000225948(dist=13855),ENSG00000223784(dist=98181) Na Na Na Na Na Na Het;A>G 1175;40|44 Het;A>G 967;39|37 Hom;A>G 2478;0|83 N N - 10 6681253 6681253 A G snp ncRNA_exonic LOC101928150 rs1556008 0.685903 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928150 PRKCQ-AS1(dist=53930),LINC00707(dist=140307) ENSG00000225948(dist=13945),ENSG00000223784(dist=98091) Na Na Na Na Na Na Het;A>G 955;53|41 Het;A>G 573;47|28 Hom;A>G 1820;0|65 N N - 10 6681377 6681377 T A snp ncRNA_exonic LOC101928150 rs1556007 0.685903 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928150 PRKCQ-AS1(dist=54054),LINC00707(dist=140183) ENSG00000225948(dist=14069),ENSG00000223784(dist=97967) Na Na Na Na Na Na Het;T>A 1235;59|49 Het;T>A 885;48|38 Hom;T>A 1969;0|66 N N - 10 6681554 6681554 A G snp ncRNA_exonic LOC101928150 rs1998994 0.685703 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928150 PRKCQ-AS1(dist=54231),LINC00707(dist=140006) ENSG00000225948(dist=14246),ENSG00000223784(dist=97790) Na Na Na Na Na Na Het;A>G 1673;62|64 Het;A>G 1659;86|70 Hom;A>G 5383;2|196 N N - 10 6681629 6681629 T C snp ncRNA_exonic LOC101928150 rs1998995 0.685903 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928150 PRKCQ-AS1(dist=54306),LINC00707(dist=139931) ENSG00000225948(dist=14321),ENSG00000223784(dist=97715) Na Na Na Na Na Na Het;T>C 2162;63|97 Het;T>C 1956;129|94 Hom;T>C 6097;3|233 N N - 10 66834242 66834249 TTTTTTTA T indel intergenic ANXA2P3 rs750777301 0 0 0 1 0 0 intergenic intergenic intergenic ANXA2P3(dist=247608),LINC01515(dist=496934) ANXA2P3(dist=247608),CTNNA3(dist=845476) ENSG00000270754(dist=19481),ENSG00000227173(dist=94947) Na Na Na Na Na Na Het;-TTTTTTA 290;3|8 Het;-TTTTTTA 164;3|5 Hom;-TTTTTTA 323;0|8 N N - 10 66834252 66834252 T TCAAAA indel intergenic ANXA2P3 rs766028021 0 0 0 1 0 0 intergenic intergenic intergenic ANXA2P3(dist=247618),LINC01515(dist=496931) ANXA2P3(dist=247618),CTNNA3(dist=845473) ENSG00000270754(dist=19491),ENSG00000227173(dist=94944) Na Na Na Na Na Na Het;+CAAAA 290;3|8 Het;+CAAAA 164;3|5 Hom;+CAAAA 323;0|8 N N - 10 66884210 66884210 A G snp intergenic ANXA2P3 rs4501889 0.460463 0 0 1 0 0 intergenic intergenic intergenic ANXA2P3(dist=297576),LINC01515(dist=446973) ANXA2P3(dist=297576),CTNNA3(dist=795515) ENSG00000270754(dist=69449),ENSG00000227173(dist=44986) Na Na Na Na Na Na Het;A>G 171;7|6 Het;A>G 73;2|3 Hom;A>G 378;0|11 N N - 10 67526347 67526348 GT G indel downstream LINC01515 rs113492278 0.123003 0 0 1 0 0 downstream intergenic downstream LINC01515 ANXA2P3(dist=939713),CTNNA3(dist=153377) ENSG00000228065 Na Na Na Na Na Na Het;-T 369;14|12 Ref Hom;-T 1379;0|35 N N - 10 67526382 67526382 G C snp downstream LINC01515 rs10996651 0.123003 0 0 1 0 0 downstream intergenic downstream LINC01515 ANXA2P3(dist=939748),CTNNA3(dist=153343) ENSG00000228065 Na Na Na Na Na Na Het;G>C 61;11|4 Ref Hom;G>C 448;0|13 N N - 10 68187295 68187295 A C snp intronic CTNNA3 Ctnna3 ENSG00000183230 catenin alpha 3 chr10:67672276-69455927 This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Asthma (toluene diisocyanate-induced); Asthma|Occupational Diseases; Body Weight; Alzheimer's disease; nicotine dependence; Pulse; Cholesterol; Alzheimer's disease ; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Echocardiography; Dehydroepiandrosterone; Lipoproteins, VLDL; Asthma; smoking cessation; Electrocardiography; Waist Circumference; Erythrocyte Indices; Multiple Sclerosis; Alzheimer's Disease; Tobacco Use Disorder; Parkinson Disease; Hypertrophy, Left Ventricular Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IPI|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005916;fascia adherens;IDA|GO:0030027;lamellipodium;IEA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0045296;cadherin binding;TAS|GO:0051015;actin filament binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IMP http://www.genecards.org/index.php?path=/Search/keyword/CTNNA3 https://hpo.jax.org/app/browse/search?q=CTNNA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607667 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA3&submit=Quick%0D%14946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA3 rs4320848 0.408946 0 0 1 0 0 intronic intronic intronic CTNNA3 CTNNA3 ENSG00000183230 Na Na Na Na Na Na Het;A>C 225;8|9 Ref Hom;A>C 1790;0|64 N N - 10 68187490 68187490 G T snp intronic CTNNA3 Ctnna3 ENSG00000183230 catenin alpha 3 chr10:67672276-69455927 This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Asthma (toluene diisocyanate-induced); Asthma|Occupational Diseases; Body Weight; Alzheimer's disease; nicotine dependence; Pulse; Cholesterol; Alzheimer's disease ; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Echocardiography; Dehydroepiandrosterone; Lipoproteins, VLDL; Asthma; smoking cessation; Electrocardiography; Waist Circumference; Erythrocyte Indices; Multiple Sclerosis; Alzheimer's Disease; Tobacco Use Disorder; Parkinson Disease; Hypertrophy, Left Ventricular Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IPI|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005916;fascia adherens;IDA|GO:0030027;lamellipodium;IEA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0045296;cadherin binding;TAS|GO:0051015;actin filament binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IMP http://www.genecards.org/index.php?path=/Search/keyword/CTNNA3 https://hpo.jax.org/app/browse/search?q=CTNNA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607667 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA3&submit=Quick%0D%14946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA3 rs11812580 0.495407 0 0 1 0 0 intronic intronic intronic CTNNA3 CTNNA3 ENSG00000183230 Na Na Na Na Na Na Het;G>T 109;3|5 Ref Hom;G>T 408;0|13 N N - 10 68187518 68187518 T C snp intronic CTNNA3 Ctnna3 ENSG00000183230 catenin alpha 3 chr10:67672276-69455927 This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Asthma (toluene diisocyanate-induced); Asthma|Occupational Diseases; Body Weight; Alzheimer's disease; nicotine dependence; Pulse; Cholesterol; Alzheimer's disease ; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Echocardiography; Dehydroepiandrosterone; Lipoproteins, VLDL; Asthma; smoking cessation; Electrocardiography; Waist Circumference; Erythrocyte Indices; Multiple Sclerosis; Alzheimer's Disease; Tobacco Use Disorder; Parkinson Disease; Hypertrophy, Left Ventricular Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IPI|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005916;fascia adherens;IDA|GO:0030027;lamellipodium;IEA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0045296;cadherin binding;TAS|GO:0051015;actin filament binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IMP http://www.genecards.org/index.php?path=/Search/keyword/CTNNA3 https://hpo.jax.org/app/browse/search?q=CTNNA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607667 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA3&submit=Quick%0D%14946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA3 rs11814588 0.409145 0 0 1 0 0 intronic intronic intronic CTNNA3 CTNNA3 ENSG00000183230 Na Na Na Na Na Na Het;T>C 128;2|4 Ref Hom;T>C 264;0|7 N N - 10 68535082 68535082 C CT indel intronic CTNNA3 Ctnna3 ENSG00000183230 catenin alpha 3 chr10:67672276-69455927 This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Asthma (toluene diisocyanate-induced); Asthma|Occupational Diseases; Body Weight; Alzheimer's disease; nicotine dependence; Pulse; Cholesterol; Alzheimer's disease ; Lupus Erythematosus, Systemic; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Echocardiography; Dehydroepiandrosterone; Lipoproteins, VLDL; Asthma; smoking cessation; Electrocardiography; Waist Circumference; Erythrocyte Indices; Multiple Sclerosis; Alzheimer's Disease; Tobacco Use Disorder; Parkinson Disease; Hypertrophy, Left Ventricular Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IPI|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005916;fascia adherens;IDA|GO:0030027;lamellipodium;IEA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0045296;cadherin binding;TAS|GO:0051015;actin filament binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IMP http://www.genecards.org/index.php?path=/Search/keyword/CTNNA3 https://hpo.jax.org/app/browse/search?q=CTNNA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607667 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA3&submit=Quick%0D%14946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA3 rs397965995 0.861621 0 0 1 0 0 intronic intronic intronic CTNNA3 CTNNA3 ENSG00000183230 Na Na Na Na Na Na Het;+T 39;1|3 Het;+T 66;1|4 Hom;+T 110;0|5 N N - 10 68740296 68740296 C T snp ncRNA_intronic LOC101928961 rs942778 0.877396 0 0 1 0 0 ncRNA_intronic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;C>T 1597;46|42 Het;C>T 1590;25|41 Hom;C>T 2614;0|58 N N - 10 68740297 68740297 A G snp ncRNA_intronic LOC101928961 rs942777 0.879792 0 0 1 0 0 ncRNA_intronic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;A>G 1597;46|42 Het;A>G 1590;25|41 Hom;A>G 2649;0|58 N N - 10 68741835 68741835 T C snp ncRNA_exonic LOC101928961 rs942788 0.88099 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;T>C 1462;71|58 Het;T>C 1173;55|48 Hom;T>C 3637;0|125 N N - 10 68742030 68742030 T C snp ncRNA_exonic LOC101928961 rs16923867 0.0625 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;T>C 2118;77|80 Ref Hom;T>C 4932;0|168 N N - 10 68742396 68742396 A C snp ncRNA_exonic LOC101928961 rs6480244 0.634585 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;A>C 981;42|34 Het;A>C 252;37|12 Hom;A>C 1922;0|64 N N - 10 68743664 68743664 A C snp ncRNA_exonic LOC101928961 rs12775004 0.0355431 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;A>C 1824;131|85 Ref Hom;A>C 6188;2|226 N N - 10 68743910 68743911 CA C indel ncRNA_exonic LOC101928961 rs398013896 0.768171 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928961 CTNNA3,LRRTM3 ENSG00000183230,ENSG00000198739 Na Na Na Na Na Na Het;-A 710;42|36 Het;-A 658;44|34 Hom;-A 2560;0|96 N N - 10 6875750 6875750 A AGGTTGAT indel ncRNA_intronic LINC00707 rs113160975 0.561502 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00707 LINC00707 ENSG00000238266 Na Na Na Na Na Na Het;+GGTTGAT 714;30|21 Het;+GGTTGAT 1198;26|32 Hom;+GGTTGAT 2094;0|49 N N - 10 6882342 6882342 G GT indel ncRNA_intronic LINC00707 rs34095706 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00707 LINC00707 ENSG00000238266 Na Na Na Na Na Na Het;+T 662;40|29 Het;+T 399;21|18 Hom;+T 983;2|37 N N - 10 6884096 6884096 T A snp ncRNA_exonic LINC00707 rs7896980 0.585663 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00707 LINC00707 ENSG00000238266 Na Na Na Na Na Na Het;T>A 1482;54|62 Het;T>A 1775;64|78 Hom;T>A 4130;1|147 N N - 10 68861214 68861214 T TC indel UTR3 *3660T>TC LRRTM3 Lrrtm3 ENSG00000198739 leucine rich repeat transmembrane neuronal 3 chr10:68685764-68859588 Alzheimer's disease ; smoking cessation Mice homozygous for a knock-out allele exhibit reduced excitatory synapse development with reduced excitatory synapse density, mESPC amplitude, and abnormal synaptic depression. Neurexins and neuroligins GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0051965;positive regulation of synapse assembly;IEA|GO:1902004;positive regulation of beta-amyloid formation;IMP GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LRRTM3 https://www.ncbi.nlm.nih.gov/omim/?term=610869 http://www.informatics.jax.org/searchtool/Search.do?query=LRRTM3&submit=Quick%0D%16984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRTM3 rs397773570 0.574281 0 0 1 0 0 UTR3 intronic intronic LRRTM3(NM_178011:c.*3660T>TC) CTNNA3 ENSG00000183230 Na Na Na Na Na Na Het;+C 77;7|3 Ref Hom;+C 445;0|13 N N - 10 68861272 68861272 T C snp UTR3 *3718T>C LRRTM3 Lrrtm3 ENSG00000198739 leucine rich repeat transmembrane neuronal 3 chr10:68685764-68859588 Alzheimer's disease ; smoking cessation Mice homozygous for a knock-out allele exhibit reduced excitatory synapse development with reduced excitatory synapse density, mESPC amplitude, and abnormal synaptic depression. Neurexins and neuroligins GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0051965;positive regulation of synapse assembly;IEA|GO:1902004;positive regulation of beta-amyloid formation;IMP GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LRRTM3 https://www.ncbi.nlm.nih.gov/omim/?term=610869 http://www.informatics.jax.org/searchtool/Search.do?query=LRRTM3&submit=Quick%0D%16984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRTM3 rs2394340 0.532348 0 0 1 0 0 UTR3 intronic intronic LRRTM3(NM_178011:c.*3718T>C) CTNNA3 ENSG00000183230 Na Na Na Na Na Na Het;T>C 109;5|5 Ref Hom;T>C 181;0|7 N N - 10 6934645 6934645 T C snp ncRNA_intronic AL392086.1 rs10508315 0.46845 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00707(dist=49777),SFMBT2(dist=265941) LINC00707(dist=49777),SFMBT2(dist=265941) ENSG00000234248 Na Na Na Na Na Na Het;T>C 190;7|7 Het;T>C 125;3|5 Hom;T>C 191;0|6 N N - 10 69648569 69648569 T A snp intronic SIRT1 Sirt1 ENSG00000096717 sirtuin 1 chr10:69644427-69678147 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] Lymphoma, Non-Hodgkin; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease; Cardiovascular Diseases; cognitive trait; Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X; healthy oldest-old; Obesity; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Obesity|Overweight; longevity; Alzheimer's disease ; Aging/ Telomere Length Mice homozygous for a knock-out allele show embryonic and fetal lethality, abnormal embryogenesis, and abnormal cellular phenotypes of derived MEFs. Mice homozygous for other knock-out alleles may exhibit peri- and postnatal lethality and heart, mammary gland, eye, and reproductive system anomalies. SIRT1 negatively regulates rRNA Expression GO:0000012;single strand break repair;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000183;chromatin silencing at rDNA;TAS|GO:0000720;pyrimidine dimer repair by nucleotide-excision repair;IMP|GO:0000731;DNA synthesis involved in DNA repair;ISS|GO:0001525;angiogenesis;IDA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001678;cellular glucose homeostasis;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0002821;positive regulation of adaptive immune response;IDA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006325;chromatin organization;IMP|GO:0006342;chromatin silencing;TAS|GO:0006343;establishment of chromatin silencing;IDA|GO:0006344;maintenance of chromatin silencing;IMP|GO:0006346;methylation-dependent chromatin silencing;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006476;protein deacetylation;IDA|GO:0006642;triglyceride mobilization;ISS|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0006979;response to oxidative stress;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0007517;muscle organ development;IEA|GO:0007569;cell aging;TAS|GO:0007623;circadian rhythm;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009267;cellular response to starvation;ISS|GO:0010629;negative regulation of gene expression;IMP|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0010883;regulation of lipid storage;ISS|GO:0010906;regulation of glucose metabolic process;ISS|GO:0010934;macrophage cytokine production;ISS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0016032;viral process;IEA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016567;protein ubiquitination;IDA|GO:0016575;histone deacetylation;IDA|GO:0018394;peptidyl-lysine acetylation;IMP|GO:0030154;cell differentiation;IEA|GO:0030225;macrophage differentiation;ISS|GO:0030308;negative regulation of cell growth;IMP|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0031393;negative regulation of prostaglandin biosynthetic process;ISS|GO:0031648;protein destabilization;IDA|GO:0031937;positive regulation of chromatin silencing;IMP|GO:0032007;negative regulation of TOR signaling;IMP|GO:0032071;regulation of endodeoxyribonuclease activity;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032868;response to insulin;ISS|GO:0032922;circadian regulation of gene expression;IMP|GO:0033158;regulation of protein import into nucleus, translocation;IMP|GO:0033210;leptin-mediated signaling pathway;ISS|GO:0034391;regulation of smooth muscle cell apoptotic process;ISS|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0035356;cellular triglyceride homeostasis;ISS|GO:0035358;regulation of peroxisome proliferator activated receptor signaling pathway;ISS|GO:0042127;regulation of cell proliferation;IMP|GO:0042326;negative regulation of phosphorylation;IMP|GO:0042542;response to hydrogen peroxide;IDA|GO:0042595;behavioral response to starvation;IEA|GO:0042632;cholesterol homeostasis;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044321;response to leptin;ISS|GO:0045348;positive regulation of MHC class II biosynthetic process;IDA|GO:0045599;negative regulation of fat cell differentiation;ISS|GO:0045739;positive regulation of DNA repair;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046628;positive regulation of insulin receptor signaling pathway;IDA|GO:0048511;rhythmic process;IEA|GO:0050872;white fat cell differentiation;ISS|GO:0051097;negative regulation of helicase activity;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051574;positive regulation of histone H3-K9 methylation;IMP|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0055089;fatty acid homeostasis;ISS|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:0061647;histone H3-K9 modification;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070857;regulation of bile acid biosynthetic process;ISS|GO:0070914;UV-damage excision repair;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071441;negative regulation of histone H3-K14 acetylation;IMP|GO:0071456;cellular response to hypoxia;IMP|GO:0071479;cellular response to ionizing radiation;ISS|GO:0071900;regulation of protein serine/threonine kinase activity;IMP|GO:0090335;regulation of brown fat cell differentiation;ISS|GO:0090400;stress-induced premature senescence;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1901984;negative regulation of protein acetylation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902237;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1904179;positive regulation of adipose tissue development;ISS|GO:1990619;histone H3-K9 deacetylation;IEA|GO:2000111;positive regulation of macrophage apoptotic process;ISS|GO:2000480;negative regulation of cAMP-dependent protein kinase activity;IDA|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2000655;negative regulation of cellular response to testosterone stimulus;IMP|GO:2000757;negative regulation of peptidyl-lysine acetylation;IDA|GO:2000773;negative regulation of cellular senescence;IDA|GO:2000774;positive regulation of cellular senescence;IDA GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IDA|GO:0005654;nucleoplasm;TAS|GO:0005677;chromatin silencing complex;IDA|GO:0005719;nuclear euchromatin;IDA|GO:0005720;nuclear heterochromatin;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IDA|GO:0033553;rDNA heterochromatin;IDA|GO:0035098;ESC/E(Z) complex;IDA GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0002039;p53 binding;IPI|GO:0003714;transcription corepressor activity;IDA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017136;NAD-dependent histone deacetylase activity;IDA|GO:0019213;deacetylase activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0033558;protein deacetylase activity;IDA|GO:0034979;NAD-dependent protein deacetylase activity;TAS|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042393;histone binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043398;HLH domain binding;IPI|GO:0043425;bHLH transcription factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046969;NAD-dependent histone deacetylase activity (H3-K9 specific);ISS|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0070403;NAD+ binding;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SIRT1 https://www.uniprot.org/uniprot/Q96EB6 https://www.ncbi.nlm.nih.gov/omim/?term=604479 http://www.informatics.jax.org/searchtool/Search.do?query=SIRT1&submit=Quick%0D%2286ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIRT1 rs2236318 0.240615 0 0 1 0 0 intronic intronic intronic SIRT1 SIRT1 ENSG00000096717 Na Na Na Na Na Na Het;T>A 276;11|12 Ref Hom;T>A 380;0|13 N N - 10 69651125 69651125 A G snp intronic SIRT1 Sirt1 ENSG00000096717 sirtuin 1 chr10:69644427-69678147 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] Lymphoma, Non-Hodgkin; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease; Cardiovascular Diseases; cognitive trait; Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X; healthy oldest-old; Obesity; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Obesity|Overweight; longevity; Alzheimer's disease ; Aging/ Telomere Length Mice homozygous for a knock-out allele show embryonic and fetal lethality, abnormal embryogenesis, and abnormal cellular phenotypes of derived MEFs. Mice homozygous for other knock-out alleles may exhibit peri- and postnatal lethality and heart, mammary gland, eye, and reproductive system anomalies. SIRT1 negatively regulates rRNA Expression GO:0000012;single strand break repair;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000183;chromatin silencing at rDNA;TAS|GO:0000720;pyrimidine dimer repair by nucleotide-excision repair;IMP|GO:0000731;DNA synthesis involved in DNA repair;ISS|GO:0001525;angiogenesis;IDA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001678;cellular glucose homeostasis;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0002821;positive regulation of adaptive immune response;IDA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006325;chromatin organization;IMP|GO:0006342;chromatin silencing;TAS|GO:0006343;establishment of chromatin silencing;IDA|GO:0006344;maintenance of chromatin silencing;IMP|GO:0006346;methylation-dependent chromatin silencing;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006476;protein deacetylation;IDA|GO:0006642;triglyceride mobilization;ISS|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0006979;response to oxidative stress;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0007517;muscle organ development;IEA|GO:0007569;cell aging;TAS|GO:0007623;circadian rhythm;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009267;cellular response to starvation;ISS|GO:0010629;negative regulation of gene expression;IMP|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0010883;regulation of lipid storage;ISS|GO:0010906;regulation of glucose metabolic process;ISS|GO:0010934;macrophage cytokine production;ISS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0016032;viral process;IEA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016567;protein ubiquitination;IDA|GO:0016575;histone deacetylation;IDA|GO:0018394;peptidyl-lysine acetylation;IMP|GO:0030154;cell differentiation;IEA|GO:0030225;macrophage differentiation;ISS|GO:0030308;negative regulation of cell growth;IMP|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0031393;negative regulation of prostaglandin biosynthetic process;ISS|GO:0031648;protein destabilization;IDA|GO:0031937;positive regulation of chromatin silencing;IMP|GO:0032007;negative regulation of TOR signaling;IMP|GO:0032071;regulation of endodeoxyribonuclease activity;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032868;response to insulin;ISS|GO:0032922;circadian regulation of gene expression;IMP|GO:0033158;regulation of protein import into nucleus, translocation;IMP|GO:0033210;leptin-mediated signaling pathway;ISS|GO:0034391;regulation of smooth muscle cell apoptotic process;ISS|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0035356;cellular triglyceride homeostasis;ISS|GO:0035358;regulation of peroxisome proliferator activated receptor signaling pathway;ISS|GO:0042127;regulation of cell proliferation;IMP|GO:0042326;negative regulation of phosphorylation;IMP|GO:0042542;response to hydrogen peroxide;IDA|GO:0042595;behavioral response to starvation;IEA|GO:0042632;cholesterol homeostasis;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044321;response to leptin;ISS|GO:0045348;positive regulation of MHC class II biosynthetic process;IDA|GO:0045599;negative regulation of fat cell differentiation;ISS|GO:0045739;positive regulation of DNA repair;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046628;positive regulation of insulin receptor signaling pathway;IDA|GO:0048511;rhythmic process;IEA|GO:0050872;white fat cell differentiation;ISS|GO:0051097;negative regulation of helicase activity;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051574;positive regulation of histone H3-K9 methylation;IMP|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0055089;fatty acid homeostasis;ISS|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:0061647;histone H3-K9 modification;IEA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070857;regulation of bile acid biosynthetic process;ISS|GO:0070914;UV-damage excision repair;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071441;negative regulation of histone H3-K14 acetylation;IMP|GO:0071456;cellular response to hypoxia;IMP|GO:0071479;cellular response to ionizing radiation;ISS|GO:0071900;regulation of protein serine/threonine kinase activity;IMP|GO:0090335;regulation of brown fat cell differentiation;ISS|GO:0090400;stress-induced premature senescence;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1901984;negative regulation of protein acetylation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902237;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1904179;positive regulation of adipose tissue development;ISS|GO:1990619;histone H3-K9 deacetylation;IEA|GO:2000111;positive regulation of macrophage apoptotic process;ISS|GO:2000480;negative regulation of cAMP-dependent protein kinase activity;IDA|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2000655;negative regulation of cellular response to testosterone stimulus;IMP|GO:2000757;negative regulation of peptidyl-lysine acetylation;IDA|GO:2000773;negative regulation of cellular senescence;IDA|GO:2000774;positive regulation of cellular senescence;IDA GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IDA|GO:0005654;nucleoplasm;TAS|GO:0005677;chromatin silencing complex;IDA|GO:0005719;nuclear euchromatin;IDA|GO:0005720;nuclear heterochromatin;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IDA|GO:0033553;rDNA heterochromatin;IDA|GO:0035098;ESC/E(Z) complex;IDA GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0002039;p53 binding;IPI|GO:0003714;transcription corepressor activity;IDA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017136;NAD-dependent histone deacetylase activity;IDA|GO:0019213;deacetylase activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0033558;protein deacetylase activity;IDA|GO:0034979;NAD-dependent protein deacetylase activity;TAS|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042393;histone binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043398;HLH domain binding;IPI|GO:0043425;bHLH transcription factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046969;NAD-dependent histone deacetylase activity (H3-K9 specific);ISS|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0070403;NAD+ binding;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SIRT1 https://www.uniprot.org/uniprot/Q96EB6 https://www.ncbi.nlm.nih.gov/omim/?term=604479 http://www.informatics.jax.org/searchtool/Search.do?query=SIRT1&submit=Quick%0D%2286ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIRT1 rs7896005 0.324281 0.4817 0.5173 1 0 0 intronic intronic intronic SIRT1 SIRT1 ENSG00000096717 Na Na Na Na Na Na Het;A>G 1083;27|42 Ref Hom;A>G 1810;0|61 N N - 10 69692330 69692330 T C snp intronic HERC4 Herc4 ENSG00000148634 HECT and RLD domain containing E3 ubiquitin protein ligase 4 chr10:69681665-69835105 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a gene-trapped allele display reduced male fertility associated with a high percentage of angulated sperm tails and impaired sperm motility. Antigen processing: Ubiquitination & Proteasome degradation GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC4 https://www.uniprot.org/uniprot/Q5GLZ8 https://www.ncbi.nlm.nih.gov/omim/?term=609248 http://www.informatics.jax.org/searchtool/Search.do?query=HERC4&submit=Quick%0D%9140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC4 rs3758392 0.324681 0.4823 0.5182 1 0 0 intronic intronic intronic HERC4 HERC4 ENSG00000148634 Na Na Na Na Na Na Het;T>C 845;17|28 Ref Hom;T>C 1357;1|44 N N - 10 69750213 69750213 G GAA indel intronic HERC4 Herc4 ENSG00000148634 HECT and RLD domain containing E3 ubiquitin protein ligase 4 chr10:69681665-69835105 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a gene-trapped allele display reduced male fertility associated with a high percentage of angulated sperm tails and impaired sperm motility. Antigen processing: Ubiquitination & Proteasome degradation GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA GO:0001650;fibrillar center;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC4 https://www.uniprot.org/uniprot/Q5GLZ8 https://www.ncbi.nlm.nih.gov/omim/?term=609248 http://www.informatics.jax.org/searchtool/Search.do?query=HERC4&submit=Quick%0D%9140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC4 rs11422655 0 0 0 1 0 0 intronic intronic intronic HERC4 HERC4 ENSG00000148634 Na Na Na Na Na Na Het;+AA 176;2|7 Ref Hom;+AA 146;1|6 N N - 10 70405855 70405855 A G snp nonsynonymous SNV A3369G I1123M aliphatic,hydrophobic,neutral hydrophobic,neutral TET1 Tet1 ENSG00000138336 tet methylcytosine dioxygenase 1 chr10:70320413-70454239 DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015] Alzheimer's disease ; Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders Mice homozygous for a knock-out allele exhibit background sensitive lethality, abnormal forebrain development, abnormal female reproductive organs and decreased litter size. Mice homozygous for a different knock-out allele exhibit impaired adult neurogenesis, impaired spatial learning and impaired short-term memory retention. TET1,2,3 and TDG demethylate DNA GO:0001826;inner cell mass cell differentiation;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006493;protein O-linked glycosylation;ISS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;ISS|GO:0031062;positive regulation of histone methylation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IMP|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IMP|GO:0001826;inner cell mass cell differentiation;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006493;protein O-linked glycosylation;ISS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;ISS|GO:0031062;positive regulation of histone methylation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IMP|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IMP GO:0005634;nucleus;IC GO:0003677;DNA binding;IDA|GO:0005506;iron ion binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TET1 https://www.uniprot.org/uniprot/Q8NFU7 https://www.ncbi.nlm.nih.gov/omim/?term=607790 http://www.informatics.jax.org/searchtool/Search.do?query=TET1&submit=Quick%0D%4ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TET1 rs3998860 0.693291 0.7212 0.7737 0.08 1 13 exonic exonic exonic TET1 TET1 ENSG00000138336 nonsynonymous SNV nonsynonymous SNV unknown TET1:NM_030625:exon4:c.A3369G:p.I1123M, TET1:uc001jok.4:exon4:c.A3369G:p.I1123M, UNKNOWN Het;A>G 1772;83|66 Ref Hom;A>G 3431;0|112 N N - 10 70525591 70525591 G A snp intronic CCAR1 Ccar1 ENSG00000060339 cell division cycle and apoptosis regulator 1 chr10:70480769-70552134 Alzheimer's disease mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001047;core promoter binding;IDA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IMP|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IGI http://www.genecards.org/index.php?path=/Search/keyword/CCAR1 https://www.uniprot.org/uniprot/Q8IX12 https://www.ncbi.nlm.nih.gov/omim/?term=612569 http://www.informatics.jax.org/searchtool/Search.do?query=CCAR1&submit=Quick%0D%1059ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCAR1 rs1149688 0.6252 0 0 1 0 0 intronic intronic intronic CCAR1 CCAR1 ENSG00000060339 Na Na Na Na Na Na Het;G>A 184;5|7 Het;G>A 203;6|9 Hom;G>A 683;0|22 N N - 10 70531217 70531217 C T snp intronic CCAR1 Ccar1 ENSG00000060339 cell division cycle and apoptosis regulator 1 chr10:70480769-70552134 Alzheimer's disease mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001047;core promoter binding;IDA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IMP|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IGI http://www.genecards.org/index.php?path=/Search/keyword/CCAR1 https://www.uniprot.org/uniprot/Q8IX12 https://www.ncbi.nlm.nih.gov/omim/?term=612569 http://www.informatics.jax.org/searchtool/Search.do?query=CCAR1&submit=Quick%0D%1059ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCAR1 rs10823258 0.623403 0.6520 0.6876 1 0 0 intronic intronic intronic CCAR1 CCAR1 ENSG00000060339 Na Na Na Na Na Na Het;C>T 778;22|35 Het;C>T 353;31|17 Hom;C>T 1297;0|46 N N - 10 70641860 70641860 T C snp nonsynonymous SNV T457C Y153H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) STOX1 Stox1 ENSG00000165730 storkhead box 1 chr10:70587298-70655188 The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Lipids; preeclampsia GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0010821;regulation of mitochondrion organization;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0045787;positive regulation of cell cycle;IEA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051301;cell division;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;IMP|GO:0071500;cellular response to nitrosative stress;IMP|GO:1901858;regulation of mitochondrial DNA metabolic process;IMP|GO:1902882;regulation of response to oxidative stress;IMP|GO:1904031;positive regulation of cyclin-dependent protein kinase activity;IMP|GO:1904120;positive regulation of otic vesicle morphogenesis;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STOX1 https://hpo.jax.org/app/browse/search?q=STOX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609397 http://www.informatics.jax.org/searchtool/Search.do?query=STOX1&submit=Quick%0D%11613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STOX1 rs1341667 0.61242 0.5717 0.6231 0.50 6 12 exonic exonic exonic STOX1 STOX1 ENSG00000165730 nonsynonymous SNV nonsynonymous SNV unknown STOX1:NM_001130159:exon2:c.T457C:p.Y153H,STOX1:NM_001130160:exon2:c.T457C:p.Y153H,STOX1:NM_152709:exon2:c.T457C:p.Y153H,STOX1:NM_001130161:exon2:c.T457C:p.Y153H, STOX1:uc001jos.2:exon2:c.T457C:p.Y153H,STOX1:uc009xpy.3:exon2:c.T457C:p.Y153H,STOX1:uc001jor.3:exon2:c.T457C:p.Y153H,STOX1:uc001joq.3:exon2:c.T127C:p.Y43H,STOX1:uc021prw.1:exon2:c.T127C:p.Y43H, UNKNOWN Het;T>C 1214;74|54 Ref Hom;T>C 4207;0|152 N N - 10 70695696 70695696 A T snp intronic DDX50 Ddx50 ENSG00000107625 DExD-box helicase 50 chr10:70661034-70706603 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008] Depression GO:0010501;RNA secondary structure unwinding;IBA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DDX50 https://www.uniprot.org/uniprot/Q9BQ39 https://www.ncbi.nlm.nih.gov/omim/?term=610373 http://www.informatics.jax.org/searchtool/Search.do?query=DDX50&submit=Quick%0D%3621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX50 rs5030892 0.615016 0 0 1 0 0 intronic intronic intronic DDX50 DDX50 ENSG00000107625 Na Na Na Na Na Na Het;A>T 200;10|8 Ref Hom;A>T 171;0|6 N N - 10 70700944 70700944 A G snp synonymous SNV A1884G G628G aliphatic,neutral aliphatic,neutral DDX50 Ddx50 ENSG00000107625 DExD-box helicase 50 chr10:70661034-70706603 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008] Depression GO:0010501;RNA secondary structure unwinding;IBA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DDX50 https://www.uniprot.org/uniprot/Q9BQ39 https://www.ncbi.nlm.nih.gov/omim/?term=610373 http://www.informatics.jax.org/searchtool/Search.do?query=DDX50&submit=Quick%0D%3621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX50 rs5030900 0.65595 0.6124 0.6370 0.75 3 4 exonic exonic exonic DDX50 DDX50 ENSG00000107625 synonymous SNV synonymous SNV unknown DDX50:NM_024045:exon13:c.A1884G:p.G628G, DDX50:uc001jou.3:exon13:c.A1884G:p.G628G, UNKNOWN Het;A>G 221;9|9 Ref Hom;A>G 912;0|33 N N - 10 70722939 70722939 T C snp intronic DDX21 Ddx21 ENSG00000165732 DExD-box helicase 21 chr10:70715884-70744829 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008] Alzheimer's disease Mice homozygous for an ENU-induced allele exhibit embryonic lethality. Major pathway of rRNA processing in the nucleolus and cytosol GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0006366;transcription from RNA polymerase II promoter;IMP|GO:0009615;response to virus;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043330;response to exogenous dsRNA;IEA|GO:0045815;positive regulation of gene expression, epigenetic;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019843;rRNA binding;IDA|GO:0030515;snoRNA binding;IDA|GO:0097322;7SK snRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX21 https://www.ncbi.nlm.nih.gov/omim/?term=606357 http://www.informatics.jax.org/searchtool/Search.do?query=DDX21&submit=Quick%0D%11615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX21 rs5030897 0.653754 0 0 1 0 0 intronic intronic intronic DDX21 DDX21 ENSG00000165732 Na Na Na Na Na Na Het;T>C 201;2|7 Ref Hom;T>C 416;0|11 N N - 10 70742192 70742192 T G snp intronic DDX21 Ddx21 ENSG00000165732 DExD-box helicase 21 chr10:70715884-70744829 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008] Alzheimer's disease Mice homozygous for an ENU-induced allele exhibit embryonic lethality. Major pathway of rRNA processing in the nucleolus and cytosol GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0006366;transcription from RNA polymerase II promoter;IMP|GO:0009615;response to virus;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043330;response to exogenous dsRNA;IEA|GO:0045815;positive regulation of gene expression, epigenetic;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019843;rRNA binding;IDA|GO:0030515;snoRNA binding;IDA|GO:0097322;7SK snRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX21 https://www.ncbi.nlm.nih.gov/omim/?term=606357 http://www.informatics.jax.org/searchtool/Search.do?query=DDX21&submit=Quick%0D%11615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX21 rs2251911 0.653355 0 0 1 0 0 intronic intronic intronic DDX21 DDX21 ENSG00000165732 Na Na Na Na Na Na Het;T>G 79;4|3 Ref Hom;T>G 232;0|7 N N - 10 7084468 7084468 A C snp intergenic LINC00707 rs6602224 0.367013 0 0 1 0 0 intergenic intergenic intergenic LINC00707(dist=199600),SFMBT2(dist=116118) LINC00707(dist=199600),SFMBT2(dist=116118) ENSG00000234248(dist=122034),ENSG00000223581(dist=54646) Na Na Na Na Na Na Het;A>C 260;14|12 Het;A>C 186;10|9 Hom;A>C 907;0|34 N N - 10 71055459 71055459 T C snp intronic HK1 Hk1 ENSG00000156515 hexokinase 1 chr10:71029740-71161638 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016] ADHD; Diabetes Mellitus, Type 2; Alzheimer's disease ; Hematocrit; glycated hemoglobin levels; Hemoglobin A, Glycosylated; Acquired Immunodeficiency Syndrome|Disease Progression; hematocrit; Erythrocyte Indices; Diabetes Mellitus, Type 2|Obesity; Tobacco Use Disorder; hemoglobin Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility. Glycolysis GO:0001678;cellular glucose homeostasis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA|GO:0097228;sperm principal piece;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/HK1 https://www.uniprot.org/uniprot/P19367 https://hpo.jax.org/app/browse/search?q=HK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=142600 http://www.informatics.jax.org/searchtool/Search.do?query=HK1&submit=Quick%0D%9995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HK1 rs4746837 0.704473 0.6858 0.7119 1 0 0 intronic intronic intronic HK1 HK1 ENSG00000156515 Na Na Na Na Na Na Het;T>C 1246;74|66 Het;T>C 917;58|44 Hom;T>C 2635;0|98 N N - 10 71491243 71491243 C G snp intergenic C10orf35 2010107G23Rik ENSG00000171224 chromosome 10 open reading frame 35 chr10:71390007-71393352 Alzheimer Disease; Alzheimer's disease ; Hypertrophy, Left Ventricular; Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C10orf35 http://www.informatics.jax.org/searchtool/Search.do?query=C10orf35&submit=Quick%0D%12884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf35 rs1122982 0.655751 0 0 1 0 0 intergenic intergenic intergenic C10orf35(dist=97888),COL13A1(dist=70401) C10orf35(dist=97888),COL13A1(dist=70401) ENSG00000235645(dist=39035),ENSG00000230469(dist=47475) Na Na Na Na Na Na Het;C>G 51;1|3 Ref Hom;C>G 247;0|10 N N - 10 71492976 71492976 G T snp intergenic C10orf35 2010107G23Rik ENSG00000171224 chromosome 10 open reading frame 35 chr10:71390007-71393352 Alzheimer Disease; Alzheimer's disease ; Hypertrophy, Left Ventricular; Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C10orf35 http://www.informatics.jax.org/searchtool/Search.do?query=C10orf35&submit=Quick%0D%12884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf35 rs2394589 0.443291 0 0 1 0 0 intergenic intergenic intergenic C10orf35(dist=99621),COL13A1(dist=68668) C10orf35(dist=99621),COL13A1(dist=68668) ENSG00000235645(dist=40768),ENSG00000230469(dist=45742) Na Na Na Na Na Na Het;G>T 312;9|12 Het;G>T 244;8|10 Hom;G>T 607;0|23 N N - 10 72520330 72520330 A G snp synonymous SNV A3402G A1134A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTS14 Adamts14 ENSG00000138316 ADAM metallopeptidase with thrombospondin type 1 motif 14 chr10:72432559-72522197 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016] Tobacco Use Disorder; Bipolar Disorder; Amyotrophic Lateral Sclerosis; multiple sclerosis; Body Weight; Prion Diseases; Alzheimer's disease O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS14 https://www.uniprot.org/uniprot/Q8WXS8 https://www.ncbi.nlm.nih.gov/omim/?term=607506 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS14&submit=Quick%0D%7707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS14 rs10823615 0.385982 0.3642 0.3662 1 0 0 exonic exonic exonic ADAMTS14 ADAMTS14 ENSG00000138316 synonymous SNV synonymous SNV unknown ADAMTS14:NM_139155:exon22:c.A3402G:p.A1134A,ADAMTS14:NM_080722:exon22:c.A3393G:p.A1131A, ADAMTS14:uc001jrg.3:exon22:c.A3402G:p.A1134A,ADAMTS14:uc001jrh.3:exon22:c.A3393G:p.A1131A, UNKNOWN Het;A>G 3159;126|131 Ref Hom;A>G 6882;3|242 N N - 10 72533910 72533910 C T snp intronic TBATA Tbata ENSG00000166220 thymus, brain and testes associated chr10:72530995-72545157 This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease ; multiple sclerosis Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBATA https://www.ncbi.nlm.nih.gov/omim/?term=612640 http://www.informatics.jax.org/searchtool/Search.do?query=TBATA&submit=Quick%0D%11731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBATA rs7077672 0.795727 0 0 1 0 0 intronic intronic intronic TBATA TBATA ENSG00000166220 Na Na Na Na Na Na Het;C>T 631;33|28 Het;C>T 730;36|34 Hom;C>T 1413;0|50 N N - 10 72534212 72534212 C T snp intronic TBATA Tbata ENSG00000166220 thymus, brain and testes associated chr10:72530995-72545157 This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease ; multiple sclerosis Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBATA https://www.ncbi.nlm.nih.gov/omim/?term=612640 http://www.informatics.jax.org/searchtool/Search.do?query=TBATA&submit=Quick%0D%11731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBATA rs7078118 0.402955 0 0 1 0 0 intronic intronic intronic TBATA TBATA ENSG00000166220 Na Na Na Na Na Na Het;C>T 196;8|7 Het;C>T 151;6|7 Hom;C>T 299;0|12 N N - 10 72536779 72536779 A C snp intronic TBATA Tbata ENSG00000166220 thymus, brain and testes associated chr10:72530995-72545157 This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease ; multiple sclerosis Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBATA https://www.ncbi.nlm.nih.gov/omim/?term=612640 http://www.informatics.jax.org/searchtool/Search.do?query=TBATA&submit=Quick%0D%11731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBATA rs2254422 0.99381 0 0 1 0 0 intronic intronic intronic TBATA TBATA ENSG00000166220 Na Na Na Na Na Na Het;A>C 295;5|9 Ref Hom;A>C 172;0|5 N N - 10 72537450 72537450 T C snp UTR3 *922A>G TBATA Tbata ENSG00000166220 thymus, brain and testes associated chr10:72530995-72545157 This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease ; multiple sclerosis Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBATA https://www.ncbi.nlm.nih.gov/omim/?term=612640 http://www.informatics.jax.org/searchtool/Search.do?query=TBATA&submit=Quick%0D%11731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBATA rs2254445 0.99381 0 0 1 0 0 intronic UTR3 intronic TBATA TBATA(uc009xqj.1:c.*922A>G) ENSG00000166220 Na Na Na Na Na Na Het;T>C 213;9|9 Het;T>C 112;2|6 Hom;T>C 347;0|14 N N - 10 72636450 72636450 T G snp intronic SGPL1 Sgpl1 ENSG00000166224 sphingosine-1-phosphate lyase 1 chr10:72575717-72640930 Alzheimer's disease ; Alzheimer's disease; Hemoglobins Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration. Sphingolipid de novo biosynthesis GO:0001553;luteinization;IEA|GO:0001570;vasculogenesis;IEA|GO:0001822;kidney development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006672;ceramide metabolic process;IDA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0007283;spermatogenesis;IEA|GO:0008209;androgen metabolic process;IEA|GO:0008210;estrogen metabolic process;IEA|GO:0008585;female gonad development;IEA|GO:0009791;post-embryonic development;IEA|GO:0010761;fibroblast migration;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0030097;hemopoiesis;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030149;sphingolipid catabolic process;IDA|GO:0033327;Leydig cell differentiation;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA|GO:0097190;apoptotic signaling pathway;IDA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;NAS GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0008117;sphinganine-1-phosphate aldolase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGPL1 https://hpo.jax.org/app/browse/search?q=SGPL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603729 http://www.informatics.jax.org/searchtool/Search.do?query=SGPL1&submit=Quick%0D%11732ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGPL1 rs923177 0.765375 0.7321 0.7658 1 0 0 intronic intronic intronic SGPL1 SGPL1 ENSG00000166224 Na Na Na Na Na Na Het;T>G 414;21|18 Het;T>G 262;26|15 Hom;T>G 1117;0|37 N N - 10 72643671 72643671 C T snp UTR3 *36G>A PCBD1 Pcbd1 ENSG00000166228 pterin-4 alpha-carbinolamine dehydratase 1 chr10:72642037-72648541 This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] diabetes, type 2; beta-cell function; Alzheimer's disease ; Iron; obesity; Diabetic Nephropathies; Autism; Dystonic Disorders Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation. Phenylalanine and tyrosine catabolism GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006558;L-phenylalanine metabolic process;IEA|GO:0006559;L-phenylalanine catabolic process;TAS|GO:0006729;tetrahydrobiopterin biosynthetic process;IEA|GO:0043496;regulation of protein homodimerization activity;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003713;transcription coactivator activity;TAS|GO:0004505;phenylalanine 4-monooxygenase activity;IEA|GO:0005515;protein binding;IPI|GO:0008124;4-alpha-hydroxytetrahydrobiopterin dehydratase activity;EXP|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PCBD1 https://hpo.jax.org/app/browse/search?q=PCBD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126090 http://www.informatics.jax.org/searchtool/Search.do?query=PCBD1&submit=Quick%0D%11735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCBD1 rs9712 0.765375 0.7283 0.7768 1 0 0 UTR3 UTR3 UTR3 PCBD1(NM_000281:c.*36G>A,NM_001289797:c.*36G>A) PCBD1(uc001jrn.1:c.*36G>A) ENSG00000166228(ENST00000299299:c.*36G>A) Na Na Na Na Na Na Het;C>T 547;27|25 Het;C>T 368;26|17 Hom;C>T 1050;0|39 N N - 10 72715367 72715367 G T snp ncRNA_exonic AC073176.1 rs10823645 0.353235 0 0 1 0 0 intergenic intergenic ncRNA_exonic PCBD1(dist=66824),UNC5B(dist=256925) PCBD1(dist=66826),UNC5B(dist=256925) ENSG00000259267 Na Na Na Na Na Na Het;G>T 202;33|14 Het;G>T 207;21|11 Hom;G>T 622;0|25 N N - 10 73047690 73047690 C T snp intronic UNC5B Unc5b ENSG00000107731 unc-5 netrin receptor B chr10:72972327-73062621 This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] Attention Deficit Disorder with Hyperactivity; Alzheimer's disease ; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder Mice homozygous for a severely hypomorphic allele exhibit background sensitive lethality during organogenesis. Ligand-independent caspase activation via DCC GO:0001525;angiogenesis;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0033564;anterior/posterior axon guidance;IEA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IMP GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UNC5B https://www.uniprot.org/uniprot/Q8IZJ1 https://www.ncbi.nlm.nih.gov/omim/?term=607870 http://www.informatics.jax.org/searchtool/Search.do?query=UNC5B&submit=Quick%0D%3628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC5B rs2277259 0.740415 0 0 1 0 0 intronic intronic intronic UNC5B UNC5B ENSG00000107731 Na Na Na Na Na Na Het;C>T 165;8|6 Ref Hom;C>T 166;0|5 N N - 10 73199501 73199501 C A snp intronic CDH23 Cdh23 ENSG00000107736 cadherin related 23 chr10:73156691-73575702 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] Waist Circumference; Alzheimer's disease ; Insulin; Hip; personality; usher syndrome; Tobacco Use Disorder; Usher syndrome; hearing loss, noise induced; Retinal Diseases; Myocardial Infarction; Asthma; smoking Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. GO:0006816;calcium ion transport;IMP|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0060122;inner ear receptor stereocilium organization;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH23 https://www.uniprot.org/uniprot/Q9H251 https://hpo.jax.org/app/browse/search?q=CDH23&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605516 http://www.informatics.jax.org/searchtool/Search.do?query=CDH23&submit=Quick%0D%3629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH23 rs4747153 0.314497 0 0 1 0 0 intronic intronic intronic CDH23 CDH23 ENSG00000107736 Na Na Na Na Na Na Het;C>A 223;6|9 Ref Hom;C>A 264;0|10 N N - 10 73206287 73206287 C T snp intronic CDH23 Cdh23 ENSG00000107736 cadherin related 23 chr10:73156691-73575702 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] Waist Circumference; Alzheimer's disease ; Insulin; Hip; personality; usher syndrome; Tobacco Use Disorder; Usher syndrome; hearing loss, noise induced; Retinal Diseases; Myocardial Infarction; Asthma; smoking Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. GO:0006816;calcium ion transport;IMP|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0060122;inner ear receptor stereocilium organization;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH23 https://www.uniprot.org/uniprot/Q9H251 https://hpo.jax.org/app/browse/search?q=CDH23&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605516 http://www.informatics.jax.org/searchtool/Search.do?query=CDH23&submit=Quick%0D%3629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH23 rs12770610 0.30631 0 0 1 0 0 intronic intronic intronic CDH23 CDH23 ENSG00000107736 Na Na Na Na Na Na Het;C>T 78;1|3 Ref Hom;C>T 116;0|4 N N - 10 73403490 73403490 A G snp intronic CDH23 Cdh23 ENSG00000107736 cadherin related 23 chr10:73156691-73575702 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] Waist Circumference; Alzheimer's disease ; Insulin; Hip; personality; usher syndrome; Tobacco Use Disorder; Usher syndrome; hearing loss, noise induced; Retinal Diseases; Myocardial Infarction; Asthma; smoking Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. GO:0006816;calcium ion transport;IMP|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007626;locomotory behavior;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:0060122;inner ear receptor stereocilium organization;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032420;stereocilium;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH23 https://www.uniprot.org/uniprot/Q9H251 https://hpo.jax.org/app/browse/search?q=CDH23&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605516 http://www.informatics.jax.org/searchtool/Search.do?query=CDH23&submit=Quick%0D%3629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH23 rs10823810 0.474042 0 0 1 0 0 intronic intronic intronic CDH23 CDH23 ENSG00000107736 Na Na Na Na Na Na Het;A>G 75;6|4 Ref Hom;A>G 99;0|4 N N - 10 73724266 73724266 C G snp UTR5 -41335C>G CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs4148907 0.561302 0 0 1 0 0 UTR5 UTR5 UTR5 CHST3(NM_004273:c.-41335C>G) CHST3(uc001jsn.3:c.-41335C>G) ENSG00000122863(ENST00000373115:c.-41335C>G) Na Na Na Na Na Na Het;C>G 426;17|20 Het;C>G 334;17|17 Hom;C>G 973;0|37 N N - 10 73765773 73765773 T G snp intronic CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs11000129 0.273762 0.3969 0.3944 1 0 0 intronic intronic intronic CHST3 CHST3 ENSG00000122863 Na Na Na Na Na Na Het;T>G 372;20|17 Het;T>G 364;15|20 Hom;T>G 619;0|26 N N - 10 73767859 73767859 G A snp nonsynonymous SNV G1070A R357Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs3740129 0.273962 0.3581 0.3643 0.15 2 13 exonic exonic exonic CHST3 CHST3 ENSG00000122863 nonsynonymous SNV nonsynonymous SNV unknown CHST3:NM_004273:exon3:c.G1070A:p.R357Q, CHST3:uc001jsn.3:exon3:c.G1070A:p.R357Q, UNKNOWN Het;G>A 1391;86|60 Het;G>A 1447;72|60 Hom;G>A 3212;0|117 N N - 10 73769507 73769507 C T snp UTR3 *1278C>T CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs4148943 0.335663 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*1278C>T) CHST3(uc001jsn.3:c.*1278C>T) ENSG00000122863(ENST00000373115:c.*1278C>T) Na Na Na Na Na Na Het;C>T 1490;62|62 Het;C>T 825;50|40 Hom;C>T 3055;0|112 N N - 10 73769590 73769590 C T snp UTR3 *1361C>T CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs4148945 0.236222 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*1361C>T) CHST3(uc001jsn.3:c.*1361C>T) ENSG00000122863(ENST00000373115:c.*1361C>T) Na Na Na Na Na Na Het;C>T 1152;51|51 Het;C>T 1030;51|49 Hom;C>T 2360;0|81 N N - 10 73770117 73770117 T C snp UTR3 *1888T>C CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs4148947 0.287141 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*1888T>C) CHST3(uc001jsn.3:c.*1888T>C) ENSG00000122863(ENST00000373115:c.*1888T>C) Na Na Na Na Na Na Het;T>C 586;11|20 Het;T>C 305;14|13 Hom;T>C 976;0|32 N N - 10 73771706 73771706 G A snp UTR3 *3477G>A CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs4148950 0.287141 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*3477G>A) CHST3(uc001jsn.3:c.*3477G>A) ENSG00000122863(ENST00000373115:c.*3477G>A) Na Na Na Na Na Na Het;G>A 705;35|31 Het;G>A 1110;42|49 Hom;G>A 1890;0|69 N N - 10 73772014 73772014 G A snp UTR3 *3785G>A CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs1871450 0.286941 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*3785G>A) CHST3(uc001jsn.3:c.*3785G>A) ENSG00000122863(ENST00000373115:c.*3785G>A) Na Na Na Na Na Na Het;G>A 716;48|31 Het;G>A 767;70|35 Hom;G>A 2411;0|87 N N - 10 73772336 73772336 T C snp UTR3 *4107T>C CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs731027 0.336861 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*4107T>C) CHST3(uc001jsn.3:c.*4107T>C) ENSG00000122863(ENST00000373115:c.*4107T>C) Na Na Na Na Na Na Het;T>C 1190;59|55 Het;T>C 979;52|45 Hom;T>C 1395;2|53 N N - 10 73772762 73772762 C T snp UTR3 *4533C>T CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs730720 0.33726 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*4533C>T) CHST3(uc001jsn.3:c.*4533C>T) ENSG00000122863(ENST00000373115:c.*4533C>T) Na Na Na Na Na Na Het;C>T 906;61|43 Het;C>T 1073;58|54 Hom;C>T 2711;0|103 N N - 10 73773014 73773014 G A snp UTR3 *4785G>A CHST3 Chst3 ENSG00000122863 carbohydrate sulfotransferase 3 chr10:73724123-73773322 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] Alzheimer's disease ; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Myocardial Infarction; Pancreatic Neoplasms Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. Chondroitin sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006790;sulfur compound metabolic process;IDA|GO:0030206;chondroitin sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;IBA|GO:0008146;sulfotransferase activity;TAS|GO:0008459;chondroitin 6-sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST3 https://www.uniprot.org/uniprot/Q7LGC8 https://hpo.jax.org/app/browse/search?q=CHST3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603799 http://www.informatics.jax.org/searchtool/Search.do?query=CHST3&submit=Quick%0D%5463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST3 rs12418 0.28734 0 0 1 0 0 UTR3 UTR3 UTR3 CHST3(NM_004273:c.*4785G>A) CHST3(uc001jsn.3:c.*4785G>A) ENSG00000122863(ENST00000373115:c.*4785G>A) Na Na Na Na Na Na Het;G>A 926;40|41 Het;G>A 721;39|37 Hom;G>A 1259;2|49 N N - 10 73822243 73822243 G T snp ncRNA_exonic BC127952 rs1049245 0.225439 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 SPOCK2(NM_014767:c.*275C>A,NM_001244950:c.*275C>A) BC127952 ENSG00000107742(ENST00000536168:c.*275C>A,ENST00000317376:c.*275C>A,ENST00000373109:c.*275C>A) Na Na Na Na Na Na Het;G>T 75;3|4 Ref Hom;G>T 122;0|4 N N - 10 73822507 73822507 C T snp UTR3 *11G>A SPOCK2 Spock2 ENSG00000107742 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 chr10:73818793-73848790 This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Alzheimer's disease ; Insulin-Like Growth Factor I; breast cancer GO:0007165;signal transduction;IEA|GO:0007416;synapse assembly;NAS|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010951;negative regulation of endopeptidase activity;TAS|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;NAS|GO:0045595;regulation of cell differentiation;NAS|GO:2000147;positive regulation of cell motility;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA GO:0005509;calcium ion binding;IDA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0050840;extracellular matrix binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPOCK2 https://www.uniprot.org/uniprot/Q92563 https://www.ncbi.nlm.nih.gov/omim/?term=607988 http://www.informatics.jax.org/searchtool/Search.do?query=SPOCK2&submit=Quick%0D%3631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOCK2 rs1530803 0.265974 0.3665 0.3794 1 0 0 UTR3 UTR3 UTR3 SPOCK2(NM_014767:c.*11G>A,NM_001244950:c.*11G>A) SPOCK2(uc001jso.2:c.*11G>A,uc001jsp.3:c.*11G>A) ENSG00000107742(ENST00000536168:c.*11G>A,ENST00000317376:c.*11G>A,ENST00000373109:c.*11G>A) Na Na Na Na Na Na Het;C>T 800;54|41 Het;C>T 1010;53|49 Hom;C>T 1857;0|69 N N - 10 73822957 73822957 G A snp intronic SPOCK2 Spock2 ENSG00000107742 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 chr10:73818793-73848790 This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Alzheimer's disease ; Insulin-Like Growth Factor I; breast cancer GO:0007165;signal transduction;IEA|GO:0007416;synapse assembly;NAS|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010951;negative regulation of endopeptidase activity;TAS|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;NAS|GO:0045595;regulation of cell differentiation;NAS|GO:2000147;positive regulation of cell motility;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA GO:0005509;calcium ion binding;IDA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0050840;extracellular matrix binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPOCK2 https://www.uniprot.org/uniprot/Q92563 https://www.ncbi.nlm.nih.gov/omim/?term=607988 http://www.informatics.jax.org/searchtool/Search.do?query=SPOCK2&submit=Quick%0D%3631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOCK2 rs1530802 0.240615 0.3346 0.3732 1 0 0 intronic intronic intronic SPOCK2 SPOCK2 ENSG00000107742 Na Na Na Na Na Na Het;G>A 824;25|36 Het;G>A 612;15|30 Hom;G>A 1420;0|52 N N - 10 73824170 73824170 G A snp intronic SPOCK2 Spock2 ENSG00000107742 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 chr10:73818793-73848790 This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Alzheimer's disease ; Insulin-Like Growth Factor I; breast cancer GO:0007165;signal transduction;IEA|GO:0007416;synapse assembly;NAS|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010951;negative regulation of endopeptidase activity;TAS|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;NAS|GO:0045595;regulation of cell differentiation;NAS|GO:2000147;positive regulation of cell motility;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA GO:0005509;calcium ion binding;IDA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008191;metalloendopeptidase inhibitor activity;TAS|GO:0050840;extracellular matrix binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPOCK2 https://www.uniprot.org/uniprot/Q92563 https://www.ncbi.nlm.nih.gov/omim/?term=607988 http://www.informatics.jax.org/searchtool/Search.do?query=SPOCK2&submit=Quick%0D%3631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOCK2 rs2242250 0.240815 0 0 1 0 0 intronic intronic intronic SPOCK2 SPOCK2 ENSG00000107742 Na Na Na Na Na Na Het;G>A 77;2|3 Ref Hom;G>A 170;0|5 N N - 10 75673101 75673101 T C snp nonsynonymous SNV T314C L105P aliphatic,hydrophobic,neutral hydrophobic,neutral PLAU Plau ENSG00000122861 plasminogen activator, urokinase chr10:75668935-75677255 This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] bone density; osteoporosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; multiple sclerosis; Alzheimer's disease; bronchopulmonary dysplasia; bone density; Alzheimer's disease; Abeta load; Abeta42 concentration; lung cancer; Respiratory Distress Syndrome, Adult; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; thyroid cancer; ovarian cancer; Urinary Calculi; mitral valve prolapse; prostate cancer; Aging/ Telomere Length; Heart Rate; Chronic renal failure|Kidney Failure, Chronic; oral cancer; rheumatoid arthritis; Quebec platelet disorder; colorectal cancer; asthma atopy; urolithiasis; Hepatopulmonary Syndrome; Dehydroepiandrosterone; insulin; diabetes, type 1; Alzheimer's disease ; late-onset Alzheimer's disease; cognitive trait; lung cancer ; Alzheimer's Disease; Bacteremia|Gram-Negative Bacterial Infections; nephrolithiasis; Pneumoconiosis; ovarian cancer ; Myocardial Infarction; normal variation; bladder cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone Homozygotes show occasional fibrin deposits in non-healing ulcerations and reduced neointima formation after arterial injury. They are susceptible to thrombosis after traumatic or inflammatory challenge and appear to be immunologically hyporesponsive displaying characteristics of functional anergy. Dissolution of Fibrin Clot GO:0001666;response to hypoxia;IEA|GO:0006508;proteolysis;TAS|GO:0006935;chemotaxis;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0010469;regulation of receptor activity;IDA|GO:0014909;smooth muscle cell migration;IEA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030335;positive regulation of cell migration;IDA|GO:0031639;plasminogen activation;IDA|GO:0033628;regulation of cell adhesion mediated by integrin;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042730;fibrinolysis;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0061041;regulation of wound healing;IC|GO:2000097;regulation of smooth muscle cell-matrix adhesion;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLAU https://www.uniprot.org/uniprot/P00749 https://hpo.jax.org/app/browse/search?q=PLAU&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191840 http://www.informatics.jax.org/searchtool/Search.do?query=PLAU&submit=Quick%0D%5461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLAU rs2227564 0.775359 0.8387 0.7546 0.33 4 12 exonic exonic exonic PLAU PLAU ENSG00000122861 nonsynonymous SNV nonsynonymous SNV unknown PLAU:NM_002658:exon6:c.T422C:p.L141P,PLAU:NM_001145031:exon5:c.T371C:p.L124P, PLAU:uc009xrq.1:exon4:c.T314C:p.L105P,PLAU:uc001jwc.3:exon6:c.T422C:p.L141P,PLAU:uc010qkw.2:exon5:c.T371C:p.L124P,PLAU:uc001jwa.3:exon6:c.T422C:p.L141P,PLAU:uc010qkx.2:exon5:c.T164C:p.L55P, UNKNOWN Het;T>C 1131;40|51 Het;T>C 884;35|40 Hom;T>C 2541;0|99 N N - 10 7621578 7621578 C A snp intronic ITIH5 Itih5 ENSG00000123243 inter-alpha-trypsin inhibitor heavy chain family member 5 chr10:7601232-7708961 This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Alzheimer's disease ; Tobacco Use Disorder; Oocytes; Body Height; Myocardial Infarction GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH5 https://www.uniprot.org/uniprot/Q86UX2 https://www.ncbi.nlm.nih.gov/omim/?term=609783 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH5&submit=Quick%0D%5505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH5 rs11255201 0.585663 0 0 1 0 0 intronic intronic intronic ITIH5 ITIH5 ENSG00000123243 Na Na Na Na Na Na Het;C>A 204;8|8 Ref Hom;C>A 128;0|4 N N - 10 77035717 77035717 G A snp ncRNA_intronic ZNF503-AS1 rs12265666 0.467053 0 0 1 0 0 intergenic intergenic ncRNA_intronic COMTD1(dist=39947),NONE(dist=NONE) COMTD1(dist=39947),ZNF503-AS1(dist=20424) ENSG00000226051 Na Na Na Na Na Na Het;G>A 37;2|2 Ref Hom;G>A 98;0|4 N N - 10 77056256 77056256 A AC indel ncRNA_exonic ZNF503-AS1 rs35790079 0.529153 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ZNF503-AS1 ZNF503-AS1 ENSG00000226051 Na Na Na Na Na Na Het;+C 805;30|34 Het;+C 570;35|26 Hom;+C 1376;2|56 N N - 10 77191441 77191441 C A snp upstream AC010997.2 rs55922628 0.43131 0 0.6235 1 0 0 intergenic intergenic upstream LOC101929234(dist=20359),MIR606(dist=120775) ZNF503-AS2(dist=22701),C10orf11(dist=351078) ENSG00000236842 Na Na Na Na Na Na Het;C>A 155;7|8 Ref Hom;C>A 169;0|8 N N - 10 77693427 77693427 T C snp intronic C10orf11 1700112E06Rik rs9415136 0.316893 0 0 1 0 0 intronic intronic intronic C10orf11 C10orf11 ENSG00000148655 Na Na Na Na Na Na Het;T>C 203;2|7 Ref Hom;T>C 453;0|15 N N - 10 785525 785529 CTGTG C indel intergenic DIP2C Dip2c ENSG00000151240 disco interacting protein 2 homolog C chr10:320130-735683 This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] Triglycerides; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; hypertension; Alzheimer Disease; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Lipids; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0008152;metabolic process;IEA GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DIP2C https://www.uniprot.org/uniprot/Q9Y2E4 https://www.ncbi.nlm.nih.gov/omim/?term=611380 http://www.informatics.jax.org/searchtool/Search.do?query=DIP2C&submit=Quick%0D%9395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIP2C rs35796904 0 0 0 1 0 0 intergenic intergenic intergenic DIP2C(dist=49917),LARP4B(dist=67325) DIP2C(dist=49917),LARP4B(dist=67325) ENSG00000151240(dist=49842),ENSG00000231601(dist=4403) Na Na Na Na Na Na Het;-TGTG 842;45|25 Het;-TGTG 567;31|19 Hom;-TGTG 1458;0|35 N N - 10 79132479 79132479 A G snp ncRNA_intronic KCNMA1-AS3 rs35775 0.788738 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic KCNMA1-AS3 KCNMA1 ENSG00000225652 Na Na Na Na Na Na Het;A>G 307;18|13 Het;A>G 185;10|8 Hom;A>G 475;0|13 N N - 10 79133348 79133348 G A snp ncRNA_intronic KCNMA1-AS3 rs35774 0.778754 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic KCNMA1-AS3 KCNMA1 ENSG00000225652 Na Na Na Na Na Na Het;G>A 456;7|14 Het;G>A 286;12|10 Hom;G>A 479;0|16 N N - 10 79133733 79133733 T C snp ncRNA_intronic KCNMA1-AS3 rs35773 0.778954 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic KCNMA1-AS3 KCNMA1 ENSG00000225652 Na Na Na Na Na Na Het;T>C 199;11|8 Het;T>C 382;6|11 Hom;T>C 455;0|14 N N - 10 79541022 79541022 T C snp ncRNA_exonic IMPDH1P5 rs2812439 0.700879 0 0 1 0 0 intergenic upstream;downstream ncRNA_exonic KCNMA1(dist=143445),DLG5(dist=9527) DQ570533,DQ575045,DQ576634,DQ582762,DQ584676,DQ586086,DQ593224,DQ594020;DQ570592,DQ570642,DQ574810,DQ576802,DQ580595,DQ581179,DQ585850,DQ586243,DQ589398,DQ593302,DQ594771,DQ596613 ENSG00000213513 Na Na Na Na Na Na Het;T>C 50;3|4 Ref Hom;T>C 71;0|4 N N - 10 79552107 79552107 G A snp ncRNA_exonic AL450306.1 rs1058203 0.271166 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic DLG5(NM_004747:c.*91C>T) DLG5(uc001jzi.3:c.*91C>T,uc001jzj.3:c.*91C>T,uc001jzk.3:c.*91C>T) ENSG00000228748 Na Na Na Na Na Na Het;G>A 527;23|25 Ref Hom;G>A 751;0|25 N N - 10 79552151 79552151 T C snp ncRNA_exonic AL450306.1 rs1058202 0.741414 0.7207 0.6929 1 0 0 UTR3 UTR3 ncRNA_exonic DLG5(NM_004747:c.*47A>G) DLG5(uc001jzi.3:c.*47A>G,uc001jzj.3:c.*47A>G,uc001jzk.3:c.*47A>G) ENSG00000228748 Na Na Na Na Na Na Het;T>C 671;43|33 Het;T>C 860;34|34 Hom;T>C 2058;0|68 N N - 10 79553673 79553673 T C snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs2812425 0.757388 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;T>C 192;17|7 Het;T>C 505;18|22 Hom;T>C 1600;0|51 N N - 10 79553688 79553688 G A snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs2579150 0.246206 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;G>A 152;22|7 Ref Hom;G>A 1952;0|70 N N - 10 79567794 79567794 A T snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1261990 0.256789 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;A>T 917;26|32 Ref Hom;A>T 1245;2|44 N N - 10 79571893 79571893 C G snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248625 0.25599 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;C>G 1181;62|43 Ref Hom;C>G 2740;0|87 N N - 10 79579047 79579047 A G snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248635 0.720048 0.6891 0.6750 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;A>G 1507;46|58 Het;A>G 723;51|34 Hom;A>G 2839;0|100 N N - 10 79579222 79579222 G A snp synonymous SNV C3528T G1176G aliphatic,neutral aliphatic,neutral DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248634 0.255391 0.2269 0.2839 1 0 0 exonic exonic exonic DLG5 DLG5 ENSG00000151208 synonymous SNV synonymous SNV unknown DLG5:NM_004747:exon17:c.C3528T:p.G1176G, DLG5:uc001jzk.3:exon17:c.C3528T:p.G1176G,DLG5:uc001jzj.3:exon12:c.C1773T:p.G591G,DLG5:uc001jzl.4:exon11:c.C2340T:p.G780G, UNKNOWN Het;G>A 1553;44|65 Ref Hom;G>A 3009;0|109 N N - 10 79584178 79584178 G C snp synonymous SNV C2346G R782R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248629 0.744209 0.7163 0.6812 1 0 0 exonic exonic exonic DLG5 DLG5 ENSG00000151208 synonymous SNV synonymous SNV unknown DLG5:NM_004747:exon14:c.C2346G:p.R782R, DLG5:uc001jzk.3:exon14:c.C2346G:p.R782R,DLG5:uc001jzj.3:exon10:c.C1611G:p.R537R,DLG5:uc001jzl.4:exon8:c.C1158G:p.R386R, UNKNOWN Het;G>C 895;28|38 Het;G>C 1075;46|53 Hom;G>C 2798;0|108 N N - 10 79588534 79588534 C G snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs2801822 0.263179 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;C>G 348;6|11 Ref Hom;C>G 278;0|8 N N - 10 79588620 79588627 GCTCCAGC G indel intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs58805712 0.262181 0.2269 0.2836 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;-CTCCAGC 1380;56|38 Ref Hom;-CTCCAGC 2343;0|54 N N - 10 79590726 79590726 C G snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248663 0.771565 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;C>G 208;7|7 Het;C>G 175;1|7 Hom;C>G 254;0|10 N N - 10 79595417 79595417 C T snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248661 0.771965 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;C>T 360;13|13 Het;C>T 685;11|23 Hom;C>T 979;0|29 N N - 10 79595473 79595473 G A snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1781797 0.261781 0.2362 0.2953 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;G>A 1001;34|46 Ref Hom;G>A 2634;0|97 N N - 10 79614189 79614189 A G snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248692 0.76857 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;A>G 1129;34|42 Het;A>G 942;20|36 Hom;A>G 1494;0|47 N N - 10 79616360 79616360 G A snp intronic DLG5 Dlg5 ENSG00000274429 discs large MAGUK scaffold protein 5 chr10:79550549-79686378 This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/DLG5 https://www.uniprot.org/uniprot/Q8TDM6 https://www.ncbi.nlm.nih.gov/omim/?term=604090 http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5 rs1248695 0.267572 0 0 1 0 0 intronic intronic intronic DLG5 DLG5 ENSG00000151208 Na Na Na Na Na Na Het;G>A 164;7|7 Ref Hom;G>A 462;0|15 N N - 10 79628875 79628875 A G snp UTR3 *980A>G AK125684 rs1248655 0.765775 0.7450 0.7018 1 0 0 intronic UTR3 UTR3 DLG5 AK125684(uc001jzm.1:c.*980A>G) ENSG00000204049(ENST00000372387:c.*980A>G) Na Na Na Na Na Na Het;A>G 439;18|21 Het;A>G 600;16|27 Hom;A>G 747;1|30 N N - 10 79688208 79688208 A G snp ncRNA_exonic DLG5-AS1 rs1650146 0.76857 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic DLG5-AS1 DLG5-AS1(uc010qln.2:c.*1245A>G) ENSG00000233871 Na Na Na Na Na Na Het;A>G 1417;61|57 Het;A>G 1186;59|50 Hom;A>G 3785;0|133 N N - 10 80012051 80012051 C T snp ncRNA_exonic LINC00856 rs11002468 0.308307 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00856 LINC00856 ENSG00000230417 Na Na Na Na Na Na Het;C>T 2580;98|108 Ref Hom;C>T 4900;2|170 N N - 10 80012491 80012491 A G snp downstream LINC00856 rs16935758 0.307907 0 0 1 0 0 downstream ncRNA_intronic ncRNA_intronic LINC00856 LINC00856 ENSG00000230417 Na Na Na Na Na Na Het;A>G 612;25|24 Ref Hom;A>G 981;0|31 N N - 10 80808527 80808527 T C snp ncRNA_intronic ZMIZ1-AS1 rs10824709 0.541733 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic ZMIZ1-AS1 ZMIZ1-AS1 ENSG00000224596 Na Na Na Na Na Na Het;T>C 923;34|38 Het;T>C 1034;32|41 Hom;T>C 1917;0|66 N N - 10 80808667 80808667 C T snp ncRNA_exonic ZMIZ1-AS1 rs10740494 0.665535 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ZMIZ1-AS1 ZMIZ1-AS1 ENSG00000224596 Na Na Na Na Na Na Het;C>T 1129;70|54 Het;C>T 1535;64|66 Hom;C>T 3054;0|111 N N - 10 81565895 81565895 G A snp ncRNA_intronic NUTM2B-AS1 rs2025200 0.790735 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic NUTM2B-AS1 DQ586890(dist=39824),LOC642361(dist=19763) ENSG00000225484 Na Na Na Na Na Na Het;G>A 585;5|27 Het;G>A 794;5|33 Hom;G>A 1791;0|65 N N - 10 81598886 81598886 C T snp intergenic LOC642361 rs11196664 0.69988 0 0 1 0 0 intergenic intergenic intergenic LOC642361(dist=11528),LOC100288974(dist=65768) LOC642361(dist=11528),LOC100288974(dist=65768) ENSG00000272447(dist=11528),ENSG00000228570(dist=2228) Na Na Na Na Na Na Het;C>T 737;36|39 Het;C>T 323;33|18 Hom;C>T 870;0|35 N N - 10 82191643 82191643 A G snp intronic FAM213A Fam213a ENSG00000122378 family with sequence similarity 213 member A chr10:82167585-82192753 Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit reduced circulating adipokine levels and decreased collagen deposition in adipose tissue along with mild adipocyte ER stress and hyperinsulinemia. GO:0045670;regulation of osteoclast differentiation;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0016209;antioxidant activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAM213A https://www.uniprot.org/uniprot/Q9BRX8 https://www.ncbi.nlm.nih.gov/omim/?term=617165 http://www.informatics.jax.org/searchtool/Search.do?query=FAM213A&submit=Quick%0D%5405ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM213A rs6585994 0.592652 0 0 1 0 0 intronic intronic intronic FAM213A FAM213A ENSG00000122378 Na Na Na Na Na Na Het;A>G 312;9|11 Het;A>G 246;8|12 Hom;A>G 633;0|21 N N - 10 83017707 83017707 G A snp intergenic SH2D4B Sh2d4b ENSG00000178217 SH2 domain containing 4B chr10:82297658-82406316 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/SH2D4B http://www.informatics.jax.org/searchtool/Search.do?query=SH2D4B&submit=Quick%0D%14154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D4B rs10786318 0.59385 0 0 1 0 0 intergenic intergenic intergenic SH2D4B(dist=611391),NRG3(dist=617363) hsa-miR-3198-3p(dist=113230),Mir_544(dist=449538) ENSG00000265990(dist=113220),ENSG00000185737(dist=617363) Na Na Na Na Na Na Het;G>A 73;6|4 Het;G>A 45;1|3 Hom;G>A 120;0|6 N N - 10 83153864 83153864 C A snp intergenic SH2D4B Sh2d4b ENSG00000178217 SH2 domain containing 4B chr10:82297658-82406316 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/SH2D4B http://www.informatics.jax.org/searchtool/Search.do?query=SH2D4B&submit=Quick%0D%14154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D4B rs4933771 0.210663 0 0 1 0 0 intergenic intergenic intergenic SH2D4B(dist=747548),NRG3(dist=481206) hsa-miR-3198-3p(dist=249387),Mir_544(dist=313381) ENSG00000265990(dist=249377),ENSG00000185737(dist=481206) Na Na Na Na Na Na Het;C>A 216;4|9 Ref Hom;C>A 268;0|11 N N - 10 85908688 85908688 G A snp intronic GHITM Ghitm ENSG00000165678 growth hormone inducible transmembrane protein chr10:85899196-85913001 Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary GO:0006915;apoptotic process;IEA|GO:0008150;biological_process;ND GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GHITM http://www.informatics.jax.org/searchtool/Search.do?query=GHITM&submit=Quick%0D%11598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GHITM rs7069909 0.791134 0 0 1 0 0 intronic intronic intronic GHITM GHITM ENSG00000165678 Na Na Na Na Na Na Het;G>A 331;26|13 Het;G>A 347;15|13 Hom;G>A 621;0|21 N N - 10 86053174 86053174 T C snp ncRNA_exonic LINC00858 rs7898509 0.847244 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00858 LINC00858 ENSG00000229404 Na Na Na Na Na Na Het;T>C 2736;121|118 Ref Hom;T>C 5600;0|205 N N - 10 86535359 86535359 C CTT indel intergenic CCSER2 Ccser2 ENSG00000107771 coiled-coil serine rich protein 2 chr10:86088342-86278273 Tobacco Use Disorder; Lipids; Triglycerides; Alzheimer's disease GO:0001578;microtubule bundle formation;IEA GO:0015630;microtubule cytoskeleton;IEA GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCSER2 https://www.uniprot.org/uniprot/Q9H7U1 http://www.informatics.jax.org/searchtool/Search.do?query=CCSER2&submit=Quick%0D%3634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER2 rs71473643 0.470847 0 0 1 0 0 intergenic intergenic intergenic CCSER2(dist=257082),LINC01519(dist=417818) CCSER2(dist=257083),Mir_544(dist=87656) ENSG00000178429(dist=214340),ENSG00000238469(dist=87662) Na Na Na Na Na Na Het;+TT 121;8|5 Het;+TT 162;2|5 Hom;+TT 143;0|4 N N - 10 86535365 86535365 C CT indel intergenic CCSER2 Ccser2 ENSG00000107771 coiled-coil serine rich protein 2 chr10:86088342-86278273 Tobacco Use Disorder; Lipids; Triglycerides; Alzheimer's disease GO:0001578;microtubule bundle formation;IEA GO:0015630;microtubule cytoskeleton;IEA GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCSER2 https://www.uniprot.org/uniprot/Q9H7U1 http://www.informatics.jax.org/searchtool/Search.do?query=CCSER2&submit=Quick%0D%3634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER2 rs34838377 0.470847 0 0 1 0 0 intergenic intergenic intergenic CCSER2(dist=257088),LINC01519(dist=417812) CCSER2(dist=257089),Mir_544(dist=87650) ENSG00000178429(dist=214346),ENSG00000238469(dist=87656) Na Na Na Na Na Na Het;+T 118;9|5 Het;+T 162;2|5 Hom;+T 168;0|5 N N - 10 87192246 87192246 T A snp ncRNA_exonic LOC101929646 rs10749523 0.570487 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929646 AK097624(dist=233552),GRID1-AS1(dist=145242) ENSG00000223993 Na Na Na Na Na Na Het;T>A 2318;74|92 Ref Hom;T>A 5035;0|176 N N - 10 87204686 87204686 G A snp ncRNA_exonic LOC101929662 rs1110150 0.78135 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=245992),GRID1-AS1(dist=132802) ENSG00000224504 Na Na Na Na Na Na Het;G>A 1146;81|54 Ref Hom;G>A 2918;0|110 N N - 10 87204842 87204842 G C snp ncRNA_intronic LOC101929662 rs1110151 0.768371 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929662 AK097624(dist=246148),GRID1-AS1(dist=132646) ENSG00000224504 Na Na Na Na Na Na Het;G>C 181;8|8 Ref Hom;G>C 152;0|5 N N - 10 87206628 87206628 T A snp ncRNA_exonic LOC101929662 rs4536148 0.766174 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=247934),GRID1-AS1(dist=130860) ENSG00000224504 Na Na Na Na Na Na Het;T>A 1839;49|78 Ref Hom;T>A 2964;0|110 N N - 10 87206781 87206781 T C snp ncRNA_exonic LOC101929662 rs2351560 0.787141 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=248087),GRID1-AS1(dist=130707) ENSG00000224504 Na Na Na Na Na Na Het;T>C 2453;108|99 Ref Hom;T>C 4213;0|141 N N - 10 87207047 87207047 T C snp ncRNA_exonic LOC101929662 rs17396275 0.767173 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=248353),GRID1-AS1(dist=130441) ENSG00000224504 Na Na Na Na Na Na Het;T>C 2744;143|117 Ref Hom;T>C 6411;1|231 N N - 10 87207759 87207759 G A snp ncRNA_exonic LOC101929662 rs1912317 0.571286 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=249065),GRID1-AS1(dist=129729) ENSG00000224504 Na Na Na Na Na Na Het;G>A 3410;140|138 Ref Hom;G>A 5896;0|218 N N - 10 87208232 87208232 T C snp ncRNA_exonic LOC101929662 rs7100703 0.767173 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=249538),GRID1-AS1(dist=129256) ENSG00000224504 Na Na Na Na Na Na Het;T>C 1952;97|76 Ref Hom;T>C 4351;0|145 N N - 10 87208314 87208314 A AT indel ncRNA_exonic LOC101929662 rs35380358 0.787141 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=249620),GRID1-AS1(dist=129174) ENSG00000224504 Na Na Na Na Na Na Het;+T 3109;120|94 Ref Hom;+T 7016;0|176 N N - 10 87208485 87208485 A G snp ncRNA_exonic LOC101929662 rs7394387 0.766973 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=249791),GRID1-AS1(dist=129003) ENSG00000224504 Na Na Na Na Na Na Het;A>G 1352;62|64 Ref Hom;A>G 2857;3|112 N N - 10 87208534 87208534 C A snp ncRNA_exonic LOC101929662 rs3750686 0.571685 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929662 AK097624(dist=249840),GRID1-AS1(dist=128954) ENSG00000224504 Na Na Na Na Na Na Het;C>A 1505;67|65 Ref Hom;C>A 3136;3|102 N N - 10 87209524 87209524 C T snp ncRNA_exonic LINC01520 rs6585956 0.766773 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01520 AK097624(dist=250830),GRID1-AS1(dist=127964) ENSG00000230962 Na Na Na Na Na Na Het;C>T 1832;86|84 Ref Hom;C>T 3337;0|121 N N - 10 87209778 87209778 A AC indel ncRNA_exonic LINC01520 rs5786709 0.74361 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01520 AK097624(dist=251084),GRID1-AS1(dist=127710) ENSG00000230962 Na Na Na Na Na Na Het;+C 2181;77|58 Ref Hom;+C 4733;0|104 N N - 10 87209788 87209788 A G snp ncRNA_exonic LINC01520 rs1912319 0.744609 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01520 AK097624(dist=251094),GRID1-AS1(dist=127700) ENSG00000230962 Na Na Na Na Na Na Het;A>G 2235;76|62 Ref Hom;A>G 4710;0|107 N N - 10 87211117 87211117 T C snp ncRNA_intronic LINC01520 rs7081147 0.770567 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01520 AK097624(dist=252423),GRID1-AS1(dist=126371) ENSG00000230962 Na Na Na Na Na Na Het;T>C 600;12|21 Ref Hom;T>C 1170;0|42 N N - 10 87211135 87211135 A G snp ncRNA_intronic LINC01520 rs7077501 0.735623 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01520 AK097624(dist=252441),GRID1-AS1(dist=126353) ENSG00000230962 Na Na Na Na Na Na Het;A>G 1345;17|34 Ref Hom;A>G 2515;0|57 N N - 10 87211140 87211140 C T snp ncRNA_intronic LINC01520 rs7093977 0.73722 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01520 AK097624(dist=252446),GRID1-AS1(dist=126348) ENSG00000230962 Na Na Na Na Na Na Het;C>T 1399;22|37 Ref Hom;C>T 2540;0|58 N N - 10 87211601 87211601 A G snp ncRNA_intronic LINC01520 rs11201626 0.735423 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01520 AK097624(dist=252907),GRID1-AS1(dist=125887) ENSG00000230962 Na Na Na Na Na Na Het;A>G 143;9|6 Ref Hom;A>G 446;0|15 N N - 10 87361961 87361961 G A snp UTR3 *69C>T GRID1 Grid1 ENSG00000182771 glutamate ionotropic receptor delta type subunit 1 chr10:87359312-88126250 This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009] schizophrenia; schizoaffective disorder; bipolar disorder; Tobacco Use Disorder; Body Weight; Aorta; Cardiac structure and function; Waist-Hip Ratio; Triglycerides; Walking; Cardiovascular Diseases|Ventricular Dysfunction, Left; Cholesterol, HDL; schizophrenia; Hemoglobin A, Glycosylated Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035176;social behavior;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0060079;excitatory postsynaptic potential;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRID1 https://www.ncbi.nlm.nih.gov/omim/?term=610659 http://www.informatics.jax.org/searchtool/Search.do?query=GRID1&submit=Quick%0D%14852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRID1 rs1054979 0.361821 0 0 1 0 0 ncRNA_intronic ncRNA_intronic UTR3 GRID1-AS1 GRID1-AS1 ENSG00000182771(ENST00000327946:c.*69C>T,ENST00000536331:c.*69C>T,ENST00000464741:c.*664C>T) Na Na Na Na Na Na Het;G>A 416;15|15 Ref Hom;G>A 665;0|24 N N - 10 87365522 87365522 C A snp ncRNA_exonic GRID1-AS1 rs2664399 0.658347 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic GRID1-AS1 GRID1-AS1 ENSG00000234942 Na Na Na Na Na Na Het;C>A 1619;97|74 Ref Hom;C>A 3518;0|126 N N - 10 87365776 87365776 T C snp ncRNA_exonic GRID1-AS1 rs2255335 0.664337 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic GRID1-AS1 GRID1-AS1 ENSG00000234942 Na Na Na Na Na Na Het;T>C 2025;101|91 Ref Hom;T>C 5694;5|213 N N - 10 87365997 87365997 T C snp ncRNA_exonic GRID1-AS1 rs2255329 0.365415 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic GRID1-AS1 GRID1-AS1 ENSG00000234942 Na Na Na Na Na Na Het;T>C 1252;62|51 Ref Hom;T>C 2825;0|98 N N - 10 88230874 88230874 G A snp intronic WAPAL rs2288362 0.728834 0.7906 0.8036 1 0 0 intronic intronic intronic WAPAL WAPAL ENSG00000062650 Na Na Na Na Na Na Het;G>A 1538;51|63 Ref Hom;G>A 2978;0|112 N N - 10 88445385 88445385 G C snp intronic LDB3 Ldb3 ENSG00000122367 LIM domain binding 3 chr10:88428206-88495825 This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010] Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Alzheimer's disease ; Muscular Dystrophies, Limb-Girdle Homozygous mutation of this gene results in lethality within a few days after birth from muscle abnormalities. Mutant mice exhibit myopathy, dysphagia, heart vascular congestion, dilated heart ventricles, cyanosis, and respiratory distress. GO:0045214;sarcomere organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0030018;Z disc;IDA|GO:0031143;pseudopodium;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDB3 https://www.uniprot.org/uniprot/O75112 https://hpo.jax.org/app/browse/search?q=LDB3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605906 http://www.informatics.jax.org/searchtool/Search.do?query=LDB3&submit=Quick%0D%5402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDB3 rs3740345 0.624201 0.7102 0.6875 1 0 0 intronic intronic intronic LDB3 LDB3 ENSG00000122367 Na Na Na Na Na Na Het;G>C 3203;195|149 Het;G>C 2946;196|137 Hom;G>C 8830;2|323 N N - 10 88717154 88717154 C T snp nonsynonymous SNV G145A G49S aliphatic,neutral polar,hydrophilic,neutral MMRN2 Mmrn2 ENSG00000173269 multimerin 2 chr10:88695297-88729238 This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012] GO:0001525;angiogenesis;IEA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMRN2 https://www.ncbi.nlm.nih.gov/omim/?term=608925 http://www.informatics.jax.org/searchtool/Search.do?query=MMRN2&submit=Quick%0D%13328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMRN2 rs3750823 0.423522 0.3855 0.4495 0.08 1 13 exonic exonic exonic MMRN2 MMRN2 ENSG00000173269 nonsynonymous SNV nonsynonymous SNV unknown MMRN2:NM_024756:exon1:c.G145A:p.G49S, MMRN2:uc009xtb.2:exon1:c.G145A:p.G49S,MMRN2:uc001kea.3:exon1:c.G145A:p.G49S, UNKNOWN Het;C>T 693;70|36 Ref Hom;C>T 1749;0|62 N N - 10 88718436 88718436 A C snp UTR5 -19A>C SNCG Sncg ENSG00000173267 synuclein gamma chr10:88718375-88723017 This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010] Parkinson's disease; Alzheimer's disease Homozygous null mice are viable, fertile, and show no morphological or functional abnormalities of the nervous system. GO:0007268;chemical synaptic transmission;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009306;protein secretion;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0046928;regulation of neurotransmitter secretion;IEA|GO:0050808;synapse organization;IEA GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNCG https://www.ncbi.nlm.nih.gov/omim/?term=602998 http://www.informatics.jax.org/searchtool/Search.do?query=SNCG&submit=Quick%0D%13327ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNCG rs1800373 0.538139 0.5298 0.5338 1 0 0 UTR5 UTR5 UTR5 SNCG(NM_003087:c.-19A>C) SNCG(uc001keb.2:c.-19A>C) ENSG00000173267(ENST00000348795:c.-19A>C,ENST00000372017:c.-19A>C) Na Na Na Na Na Na Het;A>C 899;55|42 Ref Hom;A>C 2461;0|88 N N - 10 88818720 88818720 T C snp intronic GLUD1 Glud1 ENSG00000148672 glutamate dehydrogenase 1 chr10:88810243-88854623 This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Alzheimer's disease ; Alcoholism; Acquired Immunodeficiency Syndrome|Disease Progression; Weight Gain; Schizophrenia Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets. Amino acid synthesis and interconversion (transamination) GO:0006520;cellular amino acid metabolic process;IEA|GO:0006537;glutamate biosynthetic process;IDA|GO:0006538;glutamate catabolic process;IDA|GO:0006541;glutamine metabolic process;ISS|GO:0007005;mitochondrion organization;TAS|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0021762;substantia nigra development;IEP|GO:0032024;positive regulation of insulin secretion;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0072350;tricarboxylic acid metabolic process;ISS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0004352;glutamate dehydrogenase (NAD+) activity;IDA|GO:0004353;glutamate dehydrogenase [NAD(P)+] activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;TAS|GO:0043531;ADP binding;IDA|GO:0070403;NAD+ binding;IDA|GO:0070728;leucine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GLUD1 https://www.uniprot.org/uniprot/P00367 https://hpo.jax.org/app/browse/search?q=GLUD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138130 http://www.informatics.jax.org/searchtool/Search.do?query=GLUD1&submit=Quick%0D%9144ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLUD1 rs4933426 0.708267 0 0 1 0 0 intronic intronic intronic GLUD1 GLUD1 ENSG00000148672 Na Na Na Na Na Na Het;T>C 44;2|2 Ref Hom;T>C 135;0|4 N N - 10 89419873 89419873 C G snp intronic PAPSS2 Papss2 ENSG00000198682 3'-phosphoadenosine 5'-phosphosulfate synthase 2 chr10:89419370-89507462 Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Exercise; exercise (leisure time); osteoarthritis; Tobacco Use Disorder; null Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation. Metabolism of ingested H2SeO4 and H2SeO3 into H2Se GO:0000103;sulfate assimilation;IEA|GO:0001501;skeletal system development;TAS|GO:0007596;blood coagulation;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0050428;3'-phosphoadenosine 5'-phosphosulfate biosynthetic process;TAS|GO:0060348;bone development;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004020;adenylylsulfate kinase activity;TAS|GO:0004781;sulfate adenylyltransferase (ATP) activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAPSS2 https://hpo.jax.org/app/browse/search?q=PAPSS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603005 http://www.informatics.jax.org/searchtool/Search.do?query=PAPSS2&submit=Quick%0D%16960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPSS2 rs2255682 0.245407 0 0 1 0 0 intronic intronic intronic PAPSS2 PAPSS2 ENSG00000198682 Na Na Na Na Na Na Het;C>G 465;2|16 Ref Hom;C>G 331;1|12 N N - 10 89778495 89778495 C T snp intergenic PTEN Pten ENSG00000171862 phosphatase and tensin homolog chr10:89622870-89731687 This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015] Pancreatic Neoplasms; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; colorectal cancer; plasma HDL cholesterol (HDL-C) levels; Cholesterol, LDL; epithelial ovarian cancer ; Brain Neoplasms|Glioblastoma; esophageal cancer ; Cleft Lip|Cleft Palate; Neoplasms; endometrial cancer; ovarian cancer; Abnormalities, Multiple|Craniofacial Abnormalities; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; colorectal cancer endometrial cancer; endometriosis; Alzheimer's disease ; Neoplasm Recurrence, Local|Prostatic Neoplasms; esophageal adenocarcinoma; autism; Glioma; Cowden syndrome; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; breast cancer; chronic obstructive pulmonary disease; Autism; Ovarian Failure, Premature; bladder cancer; anaplastic astrocytoma; glioblastoma multiforme; breast cancer prostate cancer; patent ductus arteriosus; Cholesterol; Endometrial Neoplasms; breast cancer ; Colonic Neoplasms|Rectal Neoplasms; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; meningioma; brain cancer; Endometriosis|Neoplasms, Glandular and Epithelial|ovarian neoplasm|Ovarian Neoplasms; diabetes, type 2; Carcinoma, Endometrioid|Endometrial Neoplasms|Microsatellite Instability; lung cancer; prostate cancer; Brain Neoplasms|Glioma; Carcinoma, Squamous Cell|Skin Neoplasms; Narcolepsy; Retinal Neoplasms|Retinoblastoma; Carcinoma, Endometrioid|Endometrial Neoplasms; smoking behavior; nicotine dependence; Colonic Neoplasms|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Alzheimer's disease Homozygous null mutants die by E9.5 with abnormally patterned enlarged brains and defective placentas. Heterozygotes develop a range of neoplasms. Conditional mutants demonstrate effects on basic processes of proliferation, differentiation and apoptosis. Regulation of PTEN stability and activity GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0001525;angiogenesis;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0002902;regulation of B cell apoptotic process;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007270;neuron-neuron synaptic transmission;ISS|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007417;central nervous system development;ISS|GO:0007507;heart development;ISS|GO:0007568;aging;IEA|GO:0007584;response to nutrient;IEA|GO:0007611;learning or memory;ISS|GO:0007613;memory;IEA|GO:0007626;locomotory behavior;ISS|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009749;response to glucose;IEA|GO:0010033;response to organic substance;IEA|GO:0010035;response to inorganic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;NAS|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;ISS|GO:0016579;protein deubiquitination;TAS|GO:0021542;dentate gyrus development;ISS|GO:0021955;central nervous system neuron axonogenesis;ISS|GO:0030336;negative regulation of cell migration;IMP|GO:0030534;adult behavior;IEA|GO:0031175;neuron projection development;IEA|GO:0031642;negative regulation of myelination;IEA|GO:0031647;regulation of protein stability;IMP|GO:0031658;negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032228;regulation of synaptic transmission, GABAergic;IEA|GO:0032286;central nervous system myelin maintenance;ISS|GO:0032355;response to estradiol;IEA|GO:0032535;regulation of cellular component size;ISS|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033032;regulation of myeloid cell apoptotic process;IEA|GO:0033198;response to ATP;IEA|GO:0033555;multicellular organismal response to stress;ISS|GO:0035176;social behavior;ISS|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0042493;response to drug;IEA|GO:0042711;maternal behavior;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043491;protein kinase B signaling;ISS|GO:0043542;endothelial cell migration;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0044320;cellular response to leptin stimulus;IEA|GO:0045471;response to ethanol;IEA|GO:0045475;locomotor rhythm;ISS|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045792;negative regulation of cell size;ISS|GO:0046621;negative regulation of organ growth;ISS|GO:0046685;response to arsenic-containing substance;IEA|GO:0046855;inositol phosphate dephosphorylation;IDA|GO:0046856;phosphatidylinositol dephosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048679;regulation of axon regeneration;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0048853;forebrain morphogenesis;ISS|GO:0048854;brain morphogenesis;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050771;negative regulation of axonogenesis;ISS|GO:0050821;protein stabilization;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051548;negative regulation of keratinocyte migration;IMP|GO:0051726;regulation of cell cycle;IEA|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0060024;rhythmic synaptic transmission;ISS|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060074;synapse maturation;ISS|GO:0060134;prepulse inhibition;ISS|GO:0060179;male mating behavior;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060292;long term synaptic depression;IEA|GO:0060341;regulation of cellular localization;IEA|GO:0060736;prostate gland growth;IEA|GO:0060997;dendritic spine morphogenesis;ISS|GO:0061002;negative regulation of dendritic spine morphogenesis;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071257;cellular response to electrical stimulus;IMP|GO:0071361;cellular response to ethanol;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0090071;negative regulation of ribosome biogenesis;IEA|GO:0090344;negative regulation of cell aging;IEA|GO:0090394;negative regulation of excitatory postsynaptic potential;ISS|GO:0097105;presynaptic membrane assembly;ISS|GO:0097107;postsynaptic density assembly;ISS|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IEA|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904668;positive regulation of ubiquitin protein ligase activity;IDA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:2000060;positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA|GO:2000272;negative regulation of receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000808;negative regulation of synaptic vesicle clustering;ISS|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016324;apical plasma membrane;IMP|GO:0016605;PML body;IEA|GO:0035749;myelin sheath adaxonal region;ISS|GO:0042995;cell projection;IDA|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;IEA|GO:0043220;Schmidt-Lanterman incisure;ISS|GO:0045211;postsynaptic membrane;IEA GO:0000287;magnesium ion binding;IEA|GO:0004438;phosphatidylinositol-3-phosphatase activity;IDA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005161;platelet-derived growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0008289;lipid binding;IEA|GO:0010997;anaphase-promoting complex binding;IPI|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0042802;identical protein binding;IPI|GO:0051717;inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity;TAS|GO:0051800;phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity;TAS|GO:1990381;ubiquitin-specific protease binding;IPI|GO:1990782;protein tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTEN https://hpo.jax.org/app/browse/search?q=PTEN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601728 http://www.informatics.jax.org/searchtool/Search.do?query=PTEN&submit=Quick%0D%13032ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTEN rs2673825 0.38778 0 0 1 0 0 intergenic intergenic intergenic PTEN(dist=46808),RNLS(dist=255126) PTEN(dist=49963),RNLS(dist=113562) ENSG00000200891(dist=24043),ENSG00000227905(dist=29397) Na Na Na Na Na Na Het;C>T 537;46|23 Het;C>T 825;44|38 Hom;C>T 2372;0|84 N N - 10 90534759 90534759 G A snp intronic LIPN Lipn ENSG00000204020 lipase family member N chr10:90521163-90537999 The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011] Pancreatic Neoplasms Formation of the cornified envelope GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA GO:0005576;extracellular region;IEA GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIPN https://hpo.jax.org/app/browse/search?q=LIPN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613924 http://www.informatics.jax.org/searchtool/Search.do?query=LIPN&submit=Quick%0D%17186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPN rs11202849 0.298123 0 0 1 0 0 intronic intronic intronic LIPN LIPN ENSG00000204020 Na Na Na Na Na Na Het;G>A 38;2|2 Ref Hom;G>A 487;0|15 N N - 10 90568182 90568182 A G snp intronic LIPM Lipm ENSG00000173239 lipase family member M chr10:90562487-90580303 Hemoglobins; Respiratory Function Tests; Blood Proteins; Blood Cells Formation of the cornified envelope GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA GO:0005576;extracellular region;IEA GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIPM https://www.ncbi.nlm.nih.gov/omim/?term=613923 http://www.informatics.jax.org/searchtool/Search.do?query=LIPM&submit=Quick%0D%13320ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPM rs3899739 0.28095 0.2703 0.3096 1 0 0 intronic intronic intronic LIPM LIPM ENSG00000173239 Na Na Na Na Na Na Het;A>G 2106;126|100 Ref Hom;A>G 5694;2|210 N N - 10 90750982 90750982 T G snp UTR5 -42295A>C ACTA2 Acta2 ENSG00000107796 actin, alpha 2, smooth muscle, aorta chr10:90694831-90751147 The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] Heart Rate; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Aneurysm, Dissecting|Aortic Aneurysm, Thoracic|Loeys-Dietz Syndrome|Marfan Syndrome; Lung Neoplasms Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function. Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0009615;response to virus;IEP|GO:0010628;positive regulation of gene expression;ISS|GO:0014829;vascular smooth muscle contraction;IEA|GO:0072144;glomerular mesangial cell development;IEP|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030485;smooth muscle contractile fiber;IEA|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0019901;protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ACTA2 https://www.uniprot.org/uniprot/P62736 https://hpo.jax.org/app/browse/search?q=ACTA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102620 http://www.informatics.jax.org/searchtool/Search.do?query=ACTA2&submit=Quick%0D%3637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTA2 rs7079111 0.937899 0 0 1 0 0 UTR5 UTR5 UTR5 ACTA2(NM_001141945:c.-42295A>C) ACTA2(uc001kfq.3:c.-42295A>C) ENSG00000107796(ENST00000458208:c.-42295A>C,ENST00000415557:c.-42295A>C,ENST00000458159:c.-42295A>C) Na Na Na Na Na Na Het;T>G 566;19|19 Het;T>G 178;10|7 Hom;T>G 764;0|22 N N - 10 90900064 90900064 G A snp downstream AL513533.1 rs2801542 0.590256 0 0 1 0 0 intergenic intergenic downstream MIR4679-2(dist=76896),CH25H(dist=65630) MIR4679-2(dist=76896),CH25H(dist=65630) ENSG00000233292 Na Na Na Na Na Na Het;G>A 1265;47|52 Het;G>A 745;41|34 Hom;G>A 1992;3|75 N N - 10 90900443 90900443 C T snp intergenic MIR4679-2 rs2494648 0.591054 0 0 1 0 0 intergenic intergenic intergenic MIR4679-2(dist=77275),CH25H(dist=65251) MIR4679-2(dist=77275),CH25H(dist=65251) ENSG00000233292(dist=1228),ENSG00000138135(dist=65251) Na Na Na Na Na Na Het;C>T 750;52|41 Het;C>T 932;43|46 Hom;C>T 2213;0|85 N N - 10 91007470 91007470 C A snp UTR5 -65G>T LIPA Lipa ENSG00000107798 lipase A, lysosomal acid type chr10:90973326-91174314 This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] cholesteryl ester storage disease; Coronary Artery Disease; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease cholesterol; Alzheimer's Disease; Hypercholesterolemia|LDLC levels; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Dyslipidaemia; acid lipase deficiency and cholesterol ester storage disease; Alzheimer's disease ; Tobacco Use Disorder Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death. LDL clearance GO:0000902;cell morphogenesis;IEA|GO:0001816;cytokine production;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0008283;cell proliferation;IEA|GO:0016042;lipid catabolic process;IEA|GO:0030324;lung development;IEA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0048771;tissue remodeling;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA GO:0001650;fibrillar center;IDA|GO:0005764;lysosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0004771;sterol esterase activity;TAS|GO:0016298;lipase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIPA https://www.uniprot.org/uniprot/P38571 https://hpo.jax.org/app/browse/search?q=LIPA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613497 http://www.informatics.jax.org/searchtool/Search.do?query=LIPA&submit=Quick%0D%3638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPA rs2250781 0.629593 0 0 1 0 0 intronic intronic UTR5 LIPA LIPA ENSG00000107798(ENST00000428800:c.-65G>T) Na Na Na Na Na Na Het;C>A 686;50|27 Ref Hom;C>A 2241;2|77 N N - 10 91011692 91011692 T G snp UTR5 -4287A>C LIPA Lipa ENSG00000107798 lipase A, lysosomal acid type chr10:90973326-91174314 This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] cholesteryl ester storage disease; Coronary Artery Disease; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease cholesterol; Alzheimer's Disease; Hypercholesterolemia|LDLC levels; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Dyslipidaemia; acid lipase deficiency and cholesterol ester storage disease; Alzheimer's disease ; Tobacco Use Disorder Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death. LDL clearance GO:0000902;cell morphogenesis;IEA|GO:0001816;cytokine production;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0008283;cell proliferation;IEA|GO:0016042;lipid catabolic process;IEA|GO:0030324;lung development;IEA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0048771;tissue remodeling;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA GO:0001650;fibrillar center;IDA|GO:0005764;lysosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0004771;sterol esterase activity;TAS|GO:0016298;lipase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIPA https://www.uniprot.org/uniprot/P38571 https://hpo.jax.org/app/browse/search?q=LIPA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613497 http://www.informatics.jax.org/searchtool/Search.do?query=LIPA&submit=Quick%0D%3638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPA rs1332326 0.631789 0 0 1 0 0 UTR5 intronic UTR5 LIPA(NM_000235:c.-4287A>C,NM_001288979:c.-23656A>C) LIPA ENSG00000107798(ENST00000336233:c.-4287A>C) Na Na Na Na Na Na Het;T>G 397;6|16 Ref Hom;T>G 449;0|18 N N - 10 91371445 91371445 C A snp intronic PANK1 Pank1 ENSG00000152782 pantothenate kinase 1 chr10:91342745-91405215 This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] Tobacco Use Disorder; Insulin; metabolic traits; Alzheimer's disease ; other metabolic traits; HIV Infections|[X]Human immunodeficiency virus disease Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. Coenzyme A biosynthesis GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IEA|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030118;clathrin coat;IEA|GO:0055037;recycling endosome;IEA|GO:0071944;cell periphery;IEA GO:0000166;nucleotide binding;IEA|GO:0004594;pantothenate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PANK1 https://www.uniprot.org/uniprot/Q8TE04 https://www.ncbi.nlm.nih.gov/omim/?term=606160 http://www.informatics.jax.org/searchtool/Search.do?query=PANK1&submit=Quick%0D%9592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PANK1 rs7896079 0.515176 0.5370 0.5938 1 0 0 intronic intronic intronic PANK1 PANK1 ENSG00000152782 Na Na Na Na Na Na Het;C>A 237;18|12 Het;C>A 239;7|9 Hom;C>A 925;0|33 N N - 10 91371844 91371844 C T snp intronic PANK1 Pank1 ENSG00000152782 pantothenate kinase 1 chr10:91342745-91405215 This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] Tobacco Use Disorder; Insulin; metabolic traits; Alzheimer's disease ; other metabolic traits; HIV Infections|[X]Human immunodeficiency virus disease Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. Coenzyme A biosynthesis GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IEA|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030118;clathrin coat;IEA|GO:0055037;recycling endosome;IEA|GO:0071944;cell periphery;IEA GO:0000166;nucleotide binding;IEA|GO:0004594;pantothenate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PANK1 https://www.uniprot.org/uniprot/Q8TE04 https://www.ncbi.nlm.nih.gov/omim/?term=606160 http://www.informatics.jax.org/searchtool/Search.do?query=PANK1&submit=Quick%0D%9592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PANK1 rs3802655 0.515176 0.5385 0.5884 1 0 0 intronic intronic intronic PANK1 PANK1 ENSG00000152782 Na Na Na Na Na Na Het;C>T 672;30|30 Het;C>T 603;41|29 Hom;C>T 1419;0|52 N N - 10 91404448 91404448 C G snp synonymous SNV G612C L204L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PANK1 Pank1 ENSG00000152782 pantothenate kinase 1 chr10:91342745-91405215 This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] Tobacco Use Disorder; Insulin; metabolic traits; Alzheimer's disease ; other metabolic traits; HIV Infections|[X]Human immunodeficiency virus disease Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. Coenzyme A biosynthesis GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IEA|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030118;clathrin coat;IEA|GO:0055037;recycling endosome;IEA|GO:0071944;cell periphery;IEA GO:0000166;nucleotide binding;IEA|GO:0004594;pantothenate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PANK1 https://www.uniprot.org/uniprot/Q8TE04 https://www.ncbi.nlm.nih.gov/omim/?term=606160 http://www.informatics.jax.org/searchtool/Search.do?query=PANK1&submit=Quick%0D%9592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PANK1 rs11185826 0.360823 0.2652 0.3943 1 0 0 exonic exonic exonic PANK1 PANK1 ENSG00000152782 synonymous SNV synonymous SNV unknown PANK1:NM_148977:exon1:c.G612C:p.L204L, PANK1:uc001kgp.2:exon1:c.G612C:p.L204L, UNKNOWN Het;C>G 462;9|19 Ref Hom;C>G 1087;0|43 N N - 10 91404832 91404832 T C snp synonymous SNV A228G A76A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PANK1 Pank1 ENSG00000152782 pantothenate kinase 1 chr10:91342745-91405215 This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] Tobacco Use Disorder; Insulin; metabolic traits; Alzheimer's disease ; other metabolic traits; HIV Infections|[X]Human immunodeficiency virus disease Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. Coenzyme A biosynthesis GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IEA|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030118;clathrin coat;IEA|GO:0055037;recycling endosome;IEA|GO:0071944;cell periphery;IEA GO:0000166;nucleotide binding;IEA|GO:0004594;pantothenate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PANK1 https://www.uniprot.org/uniprot/Q8TE04 https://www.ncbi.nlm.nih.gov/omim/?term=606160 http://www.informatics.jax.org/searchtool/Search.do?query=PANK1&submit=Quick%0D%9592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PANK1 rs12769113 0.364816 0.2526 0.3245 1 0 0 exonic exonic exonic PANK1 PANK1 ENSG00000152782 synonymous SNV synonymous SNV unknown PANK1:NM_148977:exon1:c.A228G:p.A76A, PANK1:uc001kgp.2:exon1:c.A228G:p.A76A, UNKNOWN Het;T>C 305;9|12 Ref Hom;T>C 471;0|15 N N - 10 91470660 91470660 T G snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs7089473 0.357029 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;T>G 247;10|12 Ref Hom;T>G 163;0|7 N N - 10 91470834 91470834 A C snp synonymous SNV A607C R203R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1048057 0.463458 0.3446 0.3441 1 0 0 exonic exonic exonic KIF20B KIF20B ENSG00000138182 synonymous SNV synonymous SNV unknown KIF20B:NM_001284259:exon6:c.A607C:p.R203R,KIF20B:NM_016195:exon6:c.A607C:p.R203R, KIF20B:uc001kgr.1:exon6:c.A607C:p.R203R,KIF20B:uc001kgs.1:exon6:c.A607C:p.R203R, UNKNOWN Het;A>C 269;35|15 Ref Hom;A>C 1586;0|60 N N - 10 91473887 91473887 G A snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs11185853 0.357228 0.3119 0.2921 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;G>A 1455;70|68 Ref Hom;G>A 3158;0|123 N N - 10 91479085 91479085 G T snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs980520 0.357029 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;G>T 228;2|8 Ref Hom;G>T 247;0|7 N N - 10 91484049 91484049 C T snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs10881637 0.353834 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;C>T 72;3|3 Ref Hom;C>T 247;0|7 N N - 10 91484780 91484780 G A snp synonymous SNV G1866A E622E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs8181361 0.357029 0.3076 0.2886 1 0 0 exonic exonic exonic KIF20B KIF20B ENSG00000138182 synonymous SNV synonymous SNV unknown KIF20B:NM_001284259:exon15:c.G1866A:p.E622E,KIF20B:NM_016195:exon15:c.G1866A:p.E622E, KIF20B:uc001kgr.1:exon15:c.G1866A:p.E622E,KIF20B:uc001kgs.1:exon15:c.G1866A:p.E622E, UNKNOWN Het;G>A 1800;125|83 Ref Hom;G>A 5383;0|199 N N - 10 91485950 91485950 A G snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs10881639 0.357029 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;A>G 247;6|8 Ref Hom;A>G 248;0|7 N N - 10 91497631 91497631 T A snp nonsynonymous SNV T2913A D971E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1062465 0.353834 0.3101 0.2879 0.31 4 13 exonic exonic exonic KIF20B KIF20B ENSG00000138182 nonsynonymous SNV nonsynonymous SNV unknown KIF20B:NM_001284259:exon20:c.T3033A:p.D1011E,KIF20B:NM_016195:exon20:c.T2913A:p.D971E, KIF20B:uc001kgr.1:exon20:c.T2913A:p.D971E,KIF20B:uc001kgs.1:exon20:c.T3033A:p.D1011E,KIF20B:uc001kgt.1:exon7:c.T666A:p.D222E, UNKNOWN Het;T>A 1040;76|54 Ref Hom;T>A 3412;6|132 N N - 10 91497902 91497902 C CTAAAAG indel nonframeshift substitution 3304_3304delinsCTAAAAG KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs144593231 0.356629 0.3027 0.2866 1 0 0 exonic exonic exonic KIF20B KIF20B ENSG00000138182 nonframeshift substitution nonframeshift substitution unknown KIF20B:NM_001284259:exon20:c.3304_3304delinsCTAAAAG,KIF20B:NM_016195:exon20:c.3184_3184delinsCTAAAAG, KIF20B:uc001kgr.1:exon20:c.3184_3184delinsCTAAAAG,KIF20B:uc001kgs.1:exon20:c.3304_3304delinsCTAAAAG,KIF20B:uc001kgt.1:exon7:c.937_937delinsCTAAAAG, UNKNOWN Het;+TAAAAG 811;39|23 Ref Hom;+TAAAAG 3912;0|89 N N - 10 91498254 91498254 A G snp nonsynonymous SNV A3536G N1179S polar,hydrophilic,neutral polar,hydrophilic,neutral KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1886997 0.357029 0.3056 0.2883 0.15 2 13 exonic exonic exonic KIF20B KIF20B ENSG00000138182 nonsynonymous SNV nonsynonymous SNV unknown KIF20B:NM_001284259:exon20:c.A3656G:p.N1219S,KIF20B:NM_016195:exon20:c.A3536G:p.N1179S, KIF20B:uc001kgr.1:exon20:c.A3536G:p.N1179S,KIF20B:uc001kgs.1:exon20:c.A3656G:p.N1219S,KIF20B:uc001kgt.1:exon7:c.A1289G:p.N430S, UNKNOWN Het;A>G 661;22|27 Ref Hom;A>G 2145;1|72 N N - 10 91498318 91498318 A G snp synonymous SNV A3720G K1240K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1886998 0.357029 0.3019 0.2901 1 0 0 exonic exonic exonic KIF20B KIF20B ENSG00000138182 synonymous SNV synonymous SNV unknown KIF20B:NM_001284259:exon20:c.A3720G:p.K1240K,KIF20B:NM_016195:exon20:c.A3600G:p.K1200K, KIF20B:uc001kgr.1:exon20:c.A3600G:p.K1200K,KIF20B:uc001kgs.1:exon20:c.A3720G:p.K1240K,KIF20B:uc001kgt.1:exon7:c.A1353G:p.K451K, UNKNOWN Het;A>G 222;10|10 Ref Hom;A>G 1027;1|36 N N - 10 91503660 91503660 A G snp synonymous SNV A4011G K1337K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1126480 0.353834 0.3096 0.2876 1 0 0 exonic exonic exonic KIF20B KIF20B ENSG00000138182 synonymous SNV synonymous SNV unknown KIF20B:NM_001284259:exon22:c.A4011G:p.K1337K,KIF20B:NM_016195:exon22:c.A3891G:p.K1297K, KIF20B:uc001kgr.1:exon22:c.A3891G:p.K1297K,KIF20B:uc001kgs.1:exon22:c.A4011G:p.K1337K,KIF20B:uc001kgt.1:exon9:c.A1644G:p.K548K, UNKNOWN Het;A>G 1480;49|65 Ref Hom;A>G 2805;0|100 N N - 10 91503750 91503750 G T snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs10881648 0.357029 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;G>T 535;22|21 Ref Hom;G>T 1025;0|37 N N - 10 91505886 91505886 G A snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs56664691 0.357029 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;G>A 418;15|14 Ref Hom;G>A 426;0|11 N N - 10 91518388 91518388 A G snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs2026549 0.355032 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;A>G 74;6|3 Ref Hom;A>G 156;0|6 N N - 10 91522310 91522310 G A snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs3740037 0.356629 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;G>A 175;5|6 Ref Hom;G>A 233;0|9 N N - 10 91528384 91528384 C T snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs7912464 0.352835 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;C>T 75;3|3 Ref Hom;C>T 369;0|10 N N - 10 91528441 91528441 T C snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs3824609 0.352835 0 0 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;T>C 185;5|9 Ref Hom;T>C 830;0|26 N N - 10 91532432 91532432 A T snp intronic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs3758389 0.462859 0.3411 0.3802 1 0 0 intronic intronic intronic KIF20B KIF20B ENSG00000138182 Na Na Na Na Na Na Het;A>T 316;19|12 Ref Hom;A>T 1489;0|47 N N - 10 91561105 91561105 G T snp intergenic KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs7924196 0.402955 0 0 1 0 0 intergenic intergenic intergenic KIF20B(dist=26405),LINC00865(dist=28145) KIF20B(dist=26405),LINC00865(dist=28145) ENSG00000138182(dist=26405),ENSG00000232229(dist=28162) Na Na Na Na Na Na Het;G>T 181;10|11 Ref Hom;G>T 510;0|19 N N - 10 91589158 91589158 C G snp upstream LINC00865 rs12244597 0.220248 0 0 1 0 0 upstream upstream upstream LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;C>G 221;4|9 Ref Hom;C>G 82;0|3 N N - 10 91589190 91589190 A G snp upstream LINC00865 rs55932503 0.212859 0 0 1 0 0 upstream upstream upstream LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;A>G 431;8|17 Ref Hom;A>G 240;0|8 N N - 10 91589784 91589784 G C snp ncRNA_exonic LINC00865 rs35768372 0.205272 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;G>C 1391;85|61 Ref Hom;G>C 3617;2|133 N N - 10 91596866 91596866 T G snp ncRNA_intronic LINC00865 rs7076194 0.250599 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;T>G 60;5|3 Ref Hom;T>G 167;0|6 N N - 10 91596920 91596920 T G snp ncRNA_intronic LINC00865 rs7076219 0.396765 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;T>G 156;11|7 Ref Hom;T>G 271;0|10 N N - 10 91596946 91596946 G C snp ncRNA_intronic LINC00865 rs68147789 0.246006 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;G>C 284;17|11 Ref Hom;G>C 672;0|24 N N - 10 91597426 91597426 T C snp ncRNA_exonic LINC00865 rs3740040 0.248602 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;T>C 4095;105|110 Ref Hom;T>C 5578;3|162 N N - 10 91597627 91597627 C G snp ncRNA_exonic LINC00865 rs1326199 0.247804 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;C>G 2837;80|75 Ref Hom;C>G 7631;0|169 N N - 10 91597636 91597636 A G snp ncRNA_exonic LINC00865 rs1326198 0.247804 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;A>G 3069;78|82 Ref Hom;A>G 7902;0|179 N N - 10 91597919 91597919 T G snp ncRNA_exonic LINC00865 rs3740042 0.387979 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;T>G 4135;197|174 Ref Hom;T>G 8246;2|296 N N - 10 91598211 91598213 TTA T indel ncRNA_exonic LINC00865 rs72300029 0.247005 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;-TA 3981;116|104 Ref Hom;-TA 9384;0|210 N N - 10 91598715 91598716 CT C indel ncRNA_exonic LINC00865 rs3832647 0.372204 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;-T 1425;70|72 Ref Hom;-T 3440;1|133 N N - 10 91599043 91599043 C T snp ncRNA_exonic LINC00865 rs3802651 0.238818 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229,ENSG00000270670 Na Na Na Na Na Na Het;C>T 1118;52|46 Ref Hom;C>T 1555;4|56 N N - 10 91600497 91600497 C T snp ncRNA_exonic LINC00865 rs3087663 0.376997 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00865 LINC00865 ENSG00000232229 Na Na Na Na Na Na Het;C>T 2622;132|119 Ref Hom;C>T 8533;0|311 N N - 10 92067300 92067300 C T snp intergenic LINC01375 rs12355886 0.151558 0 0 1 0 0 intergenic intergenic intergenic LINC01375(dist=350170),LOC101926942(dist=94978) AK093219(dist=350170),BC037970(dist=146626) ENSG00000222451(dist=143583),ENSG00000236373(dist=94978) Na Na Na Na Na Na Het;C>T 381;18|16 Ref Hom;C>T 743;0|30 N N - 10 92500724 92500724 C T snp UTR3 *1515G>A HTR7 Htr7 ENSG00000148680 5-hydroxytryptamine receptor 7 chr10:92500578-92617671 The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008] Bulimia; Alzheimer's disease ; schizophrenia; alcohol abuse; Autism; Glucose; anorexia nervosa; bulimia; several psychiatric disorders; Weight Gain; migraine ; Fatigue|Fatigue Syndrome, Chronic; Hypercholesterolemia|LDLC levels Mice homozygous for a knock-out allele display lower electrically- and chemically-induced seizure thresholds. Mice homozygous for a different knock-out allele show enhanced coordination and higher thermal nociceptive thresholds. Other nullizygous mutantsfail to exhibit agonist-induced hypothermia. G alpha (s) signalling events GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007198;adenylate cyclase-inhibiting serotonin receptor signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007623;circadian rhythm;TAS|GO:0008015;blood circulation;TAS|GO:0042310;vasoconstriction;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;TAS|GO:0030594;neurotransmitter receptor activity;IBA|GO:0051378;serotonin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/HTR7 https://www.uniprot.org/uniprot/P34969 https://www.ncbi.nlm.nih.gov/omim/?term=182137 http://www.informatics.jax.org/searchtool/Search.do?query=HTR7&submit=Quick%0D%9146ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR7 rs1045949 0.676518 0 0 1 0 0 UTR3 UTR3 UTR3 HTR7(NM_019859:c.*1515G>A,NM_000872:c.*1519G>A,NM_019860:c.*1563G>A) HTR7(uc001kha.3:c.*1515G>A,uc001kgz.3:c.*1519G>A,uc001khb.3:c.*1563G>A) ENSG00000148680(ENST00000371721:c.*1515G>A,ENST00000371719:c.*1563G>A,ENST00000277874:c.*1519G>A,ENST00000336152:c.*1515G>A) Na Na Na Na Na Na Het;C>T 83;12|4 Het;C>T 98;10|6 Hom;C>T 397;2|15 N N - 10 92662860 92662860 A G snp intronic RPP30 Rpp30 ENSG00000148688 ribonuclease P/MRP subunit p30 chr10:92631473-92668312 Glucose; Alzheimer's disease Major pathway of rRNA processing in the nucleolus and cytosol GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0008033;tRNA processing;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;TAS|GO:0005730;nucleolus;IEA GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004526;ribonuclease P activity;TAS|GO:0004540;ribonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPP30 https://www.uniprot.org/uniprot/P78346 https://www.ncbi.nlm.nih.gov/omim/?term=606115 http://www.informatics.jax.org/searchtool/Search.do?query=RPP30&submit=Quick%0D%9147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPP30 rs4568910 0.548323 0 0 1 0 0 intronic intronic intronic RPP30 RPP30 ENSG00000148688 Na Na Na Na Na Na Het;A>G 137;1|5 Ref Hom;A>G 138;0|4 N N - 10 92663108 92663108 C T snp intronic RPP30 Rpp30 ENSG00000148688 ribonuclease P/MRP subunit p30 chr10:92631473-92668312 Glucose; Alzheimer's disease Major pathway of rRNA processing in the nucleolus and cytosol GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0008033;tRNA processing;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;TAS|GO:0005730;nucleolus;IEA GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004526;ribonuclease P activity;TAS|GO:0004540;ribonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPP30 https://www.uniprot.org/uniprot/P78346 https://www.ncbi.nlm.nih.gov/omim/?term=606115 http://www.informatics.jax.org/searchtool/Search.do?query=RPP30&submit=Quick%0D%9147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPP30 rs7089472 0.535343 0 0 1 0 0 intronic intronic intronic RPP30 RPP30 ENSG00000148688 Na Na Na Na Na Na Het;C>T 231;8|11 Het;C>T 179;6|7 Hom;C>T 128;0|5 N N - 10 92707186 92707186 G T snp intergenic ANKRD1 Ankrd1 ENSG00000148677 ankyrin repeat domain 1 chr10:92671853-92681033 The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008] ovarian cancer; Creatinine; Glomerular Filtration Rate; Cardiomyopathy, Hypertrophic|; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|DCM - Dilated cardiomyopathy|Heart Failure|Hypertrophic Cardiomyopathy; Hypercholesterolemia|LDLC levels; Cardiomyopathy, Dilated| Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype. PPARA activates gene expression GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0035690;cellular response to drug;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042692;muscle cell differentiation;IBA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045214;sarcomere organization;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050714;positive regulation of protein secretion;IMP|GO:0055008;cardiac muscle tissue morphogenesis;IMP|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071260;cellular response to mechanical stimulus;IDA|GO:0071347;cellular response to interleukin-1;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000279;negative regulation of DNA biosynthetic process;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IBA|GO:0031674;I band;ISS GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0031432;titin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0070412;R-SMAD binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANKRD1 https://www.uniprot.org/uniprot/Q15327 https://hpo.jax.org/app/browse/search?q=ANKRD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609599 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD1&submit=Quick%0D%9145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD1 rs12776792 0.46905 0 0 1 0 0 intergenic intergenic intergenic ANKRD1(dist=26154),LINC00502(dist=98379) U6(dist=24594),LINC00502(dist=98379) ENSG00000201604(dist=24594),ENSG00000225519(dist=47191) Na Na Na Na Na Na Het;G>T 417;44|21 Het;G>T 1036;19|44 Hom;G>T 1423;0|47 N N - 10 9276643 9276643 C G snp ncRNA_intronic LOC101928272 rs1020098 0.206669 0 0 1 0 0 ncRNA_intronic intergenic intergenic LOC101928272 5S_rRNA(dist=577849),HV745896(dist=129177) ENSG00000223808(dist=261212),ENSG00000230014(dist=41153) Na Na Na Na Na Na Het;C>G 364;12|18 Het;C>G 413;29|19 Hom;C>G 1291;0|49 N N - 10 93370960 93370960 G A snp ncRNA_intronic LOC100188947 rs10881927 0.528554 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic HECTD2-AS1 LOC100188947 ENSG00000223876(dist=66105),ENSG00000119938(dist=17239) Na Na Na Na Na Na Het;G>A 165;5|6 Het;G>A 194;7|7 Hom;G>A 209;0|6 N N - 10 93371128 93371128 C T snp ncRNA_exonic HECTD2-AS1 rs10881928 0.61901 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic HECTD2-AS1 LOC100188947 ENSG00000223876(dist=66273),ENSG00000119938(dist=17071) Na Na Na Na Na Na Het;C>T 1047;53|44 Het;C>T 1085;58|50 Hom;C>T 2262;0|84 N N - 10 94026 94026 G A snp synonymous SNV C306T A102A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TUBB8 ENSG00000261456 tubulin beta 8 class VIII chr10:92828-120103 The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016] Oocyte maturation defect 2 Kinesins GO:0001556;oocyte maturation;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007056;spindle assembly involved in female meiosis;IMP|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0072687;meiotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB8 https://hpo.jax.org/app/browse/search?q=TUBB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616768 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB8&submit=Quick%0D%20410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB8 rs10904032 0 0.3239 0.3129 0.25 2 8 exonic exonic exonic TUBB8 TUBB8 ENSG00000173876 synonymous SNV synonymous SNV unknown TUBB8:NM_177987:exon4:c.C306T:p.A102A, TUBB8:uc001ifi.2:exon4:c.C306T:p.A102A, UNKNOWN Het;G>A 928;72|43 Het;G>A 1081;90|54 Hom;G>A 3257;2|121 N N - 10 94083 94083 C T snp intronic TUBB8 ENSG00000261456 tubulin beta 8 class VIII chr10:92828-120103 The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016] Oocyte maturation defect 2 Kinesins GO:0001556;oocyte maturation;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007056;spindle assembly involved in female meiosis;IMP|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0072687;meiotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB8 https://hpo.jax.org/app/browse/search?q=TUBB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616768 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB8&submit=Quick%0D%20410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB8 rs9329309 0.489816 0 0.5071 1 0 0 intronic intronic intronic TUBB8 TUBB8 ENSG00000173876 Na Na Na Na Na Na Het;C>T 1346;6|45 Het;C>T 1323;9|48 Hom;C>T 1223;4|44 N N - 10 94179028 94179028 C T snp ncRNA_exonic MARK2P9 rs2209972 0.450879 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MARK2P9 MARK2P9 ENSG00000232709 Na Na Na Na Na Na Het;C>T 1710;97|78 Het;C>T 1914;135|93 Hom;C>T 3993;0|137 N N - 10 94179348 94179348 G T snp ncRNA_exonic MARK2P9 rs967878 0.677915 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MARK2P9 MARK2P9 ENSG00000232709 Na Na Na Na Na Na Het;G>T 1911;63|86 Het;G>T 1497;66|66 Hom;G>T 4191;0|158 N N - 10 94238929 94238929 T TA indel intronic IDE Ide ENSG00000119912 insulin degrading enzyme chr10:94211441-94333833 This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009] diabetes, type 2 | diabetes, type 1; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; BMI; Bone Mineral Density; cognitive trait; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Alzheimer's disease; Alzheimer's disease; Parkinson's disease; Alzheimer's disease cognitive function; metabolic syndrome; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; diabetes, type 2; glucose; HbA1c; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; insulin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; insulin; glucose; obesity; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 2; Type 2 diabetes; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; Diabetes Mellitus|; Down syndrome; Aging/ Telomere Length; Diabetes Mellitus, Type 2; Polycystic Ovary Syndrome; cognitive function executive function memory disturbance Mice homozygous for a null allele show beta amyloid accumulations in the brain, hyperinsulinemia, and glucose intolerance. Mice homozygous for a different null allele show decreased testis weight, small seminiferous tubules, abnormal sperm morphology, and decreased sperm viability. Ub-specific processing proteases GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;NAS|GO:0008340;determination of adult lifespan;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010992;ubiquitin homeostasis;IDA|GO:0016032;viral process;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0042447;hormone catabolic process;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1901142;insulin metabolic process;IDA|GO:1901143;insulin catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031597;cytosolic proteasome complex;IEA GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0017046;peptide hormone binding;IEA|GO:0031626;beta-endorphin binding;IEA|GO:0042277;peptide binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IPI|GO:0043559;insulin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IDE https://www.uniprot.org/uniprot/P14735 https://www.ncbi.nlm.nih.gov/omim/?term=146680 http://www.informatics.jax.org/searchtool/Search.do?query=IDE&submit=Quick%0D%5133ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IDE rs35864975 0.408147 0 0 1 0 0 intronic intronic intronic IDE IDE ENSG00000119912 Na Na Na Na Na Na Het;+A 365;8|18 Het;+A 83;7|6 Hom;+A 203;0|8 N N - 10 94392513 94392513 A ATAATT indel intronic KIF11 Kif11 ENSG00000138160 kinesin family member 11 chr10:94353043-94415150 This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2; breast cancer; Alzheimer's Disease; diabetes, type 2 Deletion of Kif11 results in early embryonic lethality of homozygotes, with developmental growth arrest at E3.5. Kinesins GO:0000278;mitotic cell cycle;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007052;mitotic spindle organization;TAS|GO:0007059;chromosome segregation;IBA|GO:0007100;mitotic centrosome separation;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0046602;regulation of mitotic centrosome separation;IMP|GO:0051225;spindle assembly;IEA|GO:0051301;cell division;IEA|GO:0090307;mitotic spindle assembly;IDA GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIF11 https://www.uniprot.org/uniprot/P52732 https://hpo.jax.org/app/browse/search?q=KIF11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148760 http://www.informatics.jax.org/searchtool/Search.do?query=KIF11&submit=Quick%0D%7686ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF11 rs10639509 0.79992 0 0 1 0 0 intronic intronic intronic KIF11 KIF11 ENSG00000138160 Na Na Na Na Na Na Het;+TAATT 988;8|25 Het;+TAATT 233;6|7 Hom;+TAATT 674;0|16 N N - 10 94409800 94409800 C T snp intronic KIF11 Kif11 ENSG00000138160 kinesin family member 11 chr10:94353043-94415150 This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2; breast cancer; Alzheimer's Disease; diabetes, type 2 Deletion of Kif11 results in early embryonic lethality of homozygotes, with developmental growth arrest at E3.5. Kinesins GO:0000278;mitotic cell cycle;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007052;mitotic spindle organization;TAS|GO:0007059;chromosome segregation;IBA|GO:0007100;mitotic centrosome separation;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0046602;regulation of mitotic centrosome separation;IMP|GO:0051225;spindle assembly;IEA|GO:0051301;cell division;IEA|GO:0090307;mitotic spindle assembly;IDA GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIF11 https://www.uniprot.org/uniprot/P52732 https://hpo.jax.org/app/browse/search?q=KIF11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148760 http://www.informatics.jax.org/searchtool/Search.do?query=KIF11&submit=Quick%0D%7686ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF11 rs6583833 0.655351 0 0 1 0 0 intronic intronic intronic KIF11 KIF11 ENSG00000138160 Na Na Na Na Na Na Het;C>T 266;6|11 Ref Hom;C>T 695;0|26 N N - 10 94426 94426 C T snp intronic TUBB8 ENSG00000261456 tubulin beta 8 class VIII chr10:92828-120103 The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016] Oocyte maturation defect 2 Kinesins GO:0001556;oocyte maturation;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007056;spindle assembly involved in female meiosis;IMP|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0072687;meiotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB8 https://hpo.jax.org/app/browse/search?q=TUBB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616768 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB8&submit=Quick%0D%20410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB8 rs10904045 0.369808 0 0 1 0 0 intronic intronic intronic TUBB8 TUBB8 ENSG00000173876 Na Na Na Na Na Na Het;C>T 1115;23|40 Het;C>T 390;35|16 Hom;C>T 1466;1|48 N N - 10 94429467 94429467 C T snp ncRNA_exonic EIF2S2P3 rs7918084 0.690296 0 0 1 0 0 intergenic intergenic ncRNA_exonic KIF11(dist=14315),HHEX(dist=20214) KIF11(dist=14315),HHEX(dist=20214) ENSG00000236493 Na Na Na Na Na Na Het;C>T 956;30|42 Het;C>T 552;17|26 Hom;C>T 1417;0|55 N N - 10 94429511 94429511 T C snp upstream EIF2S2P3 rs7903302 0.519968 0 0 1 0 0 intergenic intergenic upstream KIF11(dist=14359),HHEX(dist=20170) KIF11(dist=14359),HHEX(dist=20170) ENSG00000236493 Na Na Na Na Na Na Het;T>C 1002;39|49 Het;T>C 752;26|36 Hom;T>C 2092;0|80 N N - 10 94870 94870 A G snp intronic TUBB8 ENSG00000261456 tubulin beta 8 class VIII chr10:92828-120103 The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016] Oocyte maturation defect 2 Kinesins GO:0001556;oocyte maturation;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007056;spindle assembly involved in female meiosis;IMP|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0072687;meiotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB8 https://hpo.jax.org/app/browse/search?q=TUBB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616768 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB8&submit=Quick%0D%20410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB8 rs11251919 0.444489 0 0.3922 1 0 0 intronic intronic intronic TUBB8 TUBB8 ENSG00000173876 Na Na Na Na Na Na Het;A>G 2264;69|61 Het;A>G 1492;67|41 Hom;A>G 3255;0|74 N N - 10 94872 94872 A C snp intronic TUBB8 ENSG00000261456 tubulin beta 8 class VIII chr10:92828-120103 The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016] Oocyte maturation defect 2 Kinesins GO:0001556;oocyte maturation;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007056;spindle assembly involved in female meiosis;IMP|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0072687;meiotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB8 https://hpo.jax.org/app/browse/search?q=TUBB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616768 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB8&submit=Quick%0D%20410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB8 rs11251920 0.444489 0 0.3871 1 0 0 intronic intronic intronic TUBB8 TUBB8 ENSG00000173876 Na Na Na Na Na Na Het;A>C 2264;67|58 Het;A>C 1492;65|41 Hom;A>C 3255;0|72 N N - 10 95073046 95073046 A G snp intronic MYOF Myof ENSG00000138119 myoferlin chr10:95066186-95242074 Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MYOF https://www.uniprot.org/uniprot/Q9NZM1 https://www.ncbi.nlm.nih.gov/omim/?term=604603 http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF rs787667 0.719449 0 0 1 0 0 intronic intronic intronic MYOF MYOF ENSG00000138119 Na Na Na Na Na Na Het;A>G 105;9|5 Het;A>G 303;6|11 Hom;A>G 274;0|9 N N - 10 95074 95074 G A snp intronic TUBB8 ENSG00000261456 tubulin beta 8 class VIII chr10:92828-120103 The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016] Oocyte maturation defect 2 Kinesins GO:0001556;oocyte maturation;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007056;spindle assembly involved in female meiosis;IMP|GO:0008150;biological_process;ND GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0072687;meiotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB8 https://hpo.jax.org/app/browse/search?q=TUBB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616768 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB8&submit=Quick%0D%20410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB8 rs6560828 0.436102 0.5642 0.4540 1 0 0 intronic intronic intronic TUBB8 TUBB8 ENSG00000173876 Na Na Na Na Na Na Het;G>A 286;13|12 Het;G>A 205;13|10 Hom;G>A 623;0|21 N N - 10 95088774 95088774 G C snp intronic MYOF Myof ENSG00000138119 myoferlin chr10:95066186-95242074 Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MYOF https://www.uniprot.org/uniprot/Q9NZM1 https://www.ncbi.nlm.nih.gov/omim/?term=604603 http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF rs787687 0.697085 0 0 1 0 0 intronic intronic intronic MYOF MYOF ENSG00000138119 Na Na Na Na Na Na Het;G>C 66;9|4 Het;G>C 76;4|3 Hom;G>C 263;0|7 N N - 10 95089303 95089303 C CCTAA indel intronic MYOF Myof ENSG00000138119 myoferlin chr10:95066186-95242074 Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MYOF https://www.uniprot.org/uniprot/Q9NZM1 https://www.ncbi.nlm.nih.gov/omim/?term=604603 http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF rs112845703 0.70028 0 0 1 0 0 intronic intronic intronic MYOF MYOF ENSG00000138119 Na Na Na Na Na Na Het;+CTAA 71;5|3 Het;+CTAA 461;2|8 Hom;+CTAA 454;0|10 N N - 10 95089312 95089312 T C snp intronic MYOF Myof ENSG00000138119 myoferlin chr10:95066186-95242074 Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MYOF https://www.uniprot.org/uniprot/Q9NZM1 https://www.ncbi.nlm.nih.gov/omim/?term=604603 http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF rs1609573 0.70028 0 0 1 0 0 intronic intronic intronic MYOF MYOF ENSG00000138119 Na Na Na Na Na Na Het;T>C 179;8|6 Het;T>C 501;3|13 Hom;T>C 541;0|13 N N - 10 95400510 95400510 T C snp intronic PDE6C Pde6c ENSG00000095464 phosphodiesterase 6C chr10:95372345-95425767 This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease A spontaneous mutation in this gene results in abnormal cone photoreceptor function. GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE6C https://www.uniprot.org/uniprot/P51160 https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600827 http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C rs12780304 0.411142 0 0 1 0 0 intronic intronic intronic PDE6C PDE6C ENSG00000095464 Na Na Na Na Na Na Het;T>C 159;2|5 Het;T>C 122;4|4 Hom;T>C 99;0|3 N N - 10 95405665 95405667 CTA C indel intronic PDE6C Pde6c ENSG00000095464 phosphodiesterase 6C chr10:95372345-95425767 This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease A spontaneous mutation in this gene results in abnormal cone photoreceptor function. GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE6C https://www.uniprot.org/uniprot/P51160 https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600827 http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C rs3085185 0.405751 0.4153 0 1 0 0 intronic intronic intronic PDE6C PDE6C ENSG00000095464 Na Na Na Na Na Na Het;-TA 797;16|21 Het;-TA 668;17|18 Hom;-TA 1273;0|30 N N - 10 95405814 95405814 C A snp intronic PDE6C Pde6c ENSG00000095464 phosphodiesterase 6C chr10:95372345-95425767 This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease A spontaneous mutation in this gene results in abnormal cone photoreceptor function. GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE6C https://www.uniprot.org/uniprot/P51160 https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600827 http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C rs1409332 0.413339 0.4234 0.4604 1 0 0 intronic intronic intronic PDE6C PDE6C ENSG00000095464 Na Na Na Na Na Na Het;C>A 1374;52|63 Het;C>A 1030;56|54 Hom;C>A 3547;0|134 N N - 10 95422045 95422045 C A snp intronic PDE6C Pde6c ENSG00000095464 phosphodiesterase 6C chr10:95372345-95425767 This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease A spontaneous mutation in this gene results in abnormal cone photoreceptor function. GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE6C https://www.uniprot.org/uniprot/P51160 https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600827 http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C rs10882296 0.348642 0 0 1 0 0 intronic intronic intronic PDE6C PDE6C ENSG00000095464 Na Na Na Na Na Na Het;C>A 103;3|5 Het;C>A 31;3|2 Hom;C>A 189;0|6 N N - 10 95422245 95422245 A G snp intronic PDE6C Pde6c ENSG00000095464 phosphodiesterase 6C chr10:95372345-95425767 This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease A spontaneous mutation in this gene results in abnormal cone photoreceptor function. GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE6C https://www.uniprot.org/uniprot/P51160 https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600827 http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C rs10882298 0.348842 0 0 1 0 0 intronic intronic intronic PDE6C PDE6C ENSG00000095464 Na Na Na Na Na Na Het;A>G 160;3|6 Het;A>G 35;3|2 Hom;A>G 55;0|4 N N - 10 95428388 95428388 A G snp UTR3 *1195T>C FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs12573791 0.361222 0 0 1 0 0 UTR3 UTR3 UTR3 FRA10AC1(NM_145246:c.*1195T>C) FRA10AC1(uc001kiz.2:c.*1195T>C) ENSG00000148690(ENST00000359204:c.*1195T>C) Na Na Na Na Na Na Het;A>G 222;7|7 Het;A>G 98;9|4 Hom;A>G 695;0|19 N N - 10 95443688 95443688 C G snp intronic FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs8181435 0.360623 0 0 1 0 0 intronic intronic intronic FRA10AC1 FRA10AC1 ENSG00000148690 Na Na Na Na Na Na Het;C>G 269;8|9 Het;C>G 138;9|5 Hom;C>G 314;0|8 N N - 10 95444931 95444931 T G snp intronic FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs767701 0.360623 0 0 1 0 0 intronic intronic intronic FRA10AC1 FRA10AC1 ENSG00000148690 Na Na Na Na Na Na Het;T>G 135;14|6 Het;T>G 349;12|14 Hom;T>G 731;0|23 N N - 10 95454681 95454681 G C snp nonsynonymous SNV C233G T78R polar,hydrophilic,neutral polar,hydrophilic,charged(+) FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs2275438 0.360623 0.3898 0.4728 0.15 2 13 exonic exonic exonic FRA10AC1 FRA10AC1 ENSG00000148690 nonsynonymous SNV nonsynonymous SNV unknown FRA10AC1:NM_145246:exon5:c.C233G:p.T78R, FRA10AC1:uc001kjb.1:exon4:c.C233G:p.T78R,FRA10AC1:uc009xuh.1:exon5:c.C236G:p.T79R,FRA10AC1:uc001kiz.2:exon5:c.C233G:p.T78R, UNKNOWN Het;G>C 752;44|35 Het;G>C 696;48|36 Hom;G>C 2418;0|86 N N - 10 95454768 95454769 TA T indel intronic FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs3215997 0.359425 0 0 1 0 0 intronic intronic intronic FRA10AC1 FRA10AC1 ENSG00000148690 Na Na Na Na Na Na Het;-A 207;9|11 Het;-A 118;6|8 Hom;-A 266;0|11 N N - 10 95458141 95458141 A G snp synonymous SNV T90C D30D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs11187597 0.360623 0.3898 0.4729 1 0 0 exonic exonic exonic FRA10AC1 FRA10AC1 ENSG00000148690 synonymous SNV synonymous SNV unknown FRA10AC1:NM_145246:exon3:c.T90C:p.D30D, FRA10AC1:uc001kjb.1:exon2:c.T90C:p.D30D,FRA10AC1:uc009xuh.1:exon3:c.T93C:p.D31D,FRA10AC1:uc001kiz.2:exon3:c.T90C:p.D30D, UNKNOWN Het;A>G 831;58|42 Het;A>G 850;35|41 Hom;A>G 2926;0|112 N N - 10 95459698 95459698 G C snp intronic FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs2275441 0.360623 0 0 1 0 0 intronic intronic intronic FRA10AC1 FRA10AC1 ENSG00000148690 Na Na Na Na Na Na Het;G>C 248;4|8 Het;G>C 73;5|3 Hom;G>C 217;0|6 N N - 10 95549836 95549836 C CTT indel intronic LGI1 Lgi1 ENSG00000108231 leucine rich glioma inactivated 1 chr10:95517566-95557916 This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] null; Epilepsies, Partial|Epilepsy; Blood Pressure; Fibrinogen; Alzheimer's disease Mice homozygous for a knock-out allele exhibit growth retardation, seizures, and death by the third week of life. Mice heterozygous for this allele exhibit increased suseptibility to pentylenetetrazole-induced seizures. LGI-ADAM interactions GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IMP|GO:0008283;cell proliferation;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031175;neuron projection development;IMP|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGI1 https://www.uniprot.org/uniprot/O95970 https://hpo.jax.org/app/browse/search?q=LGI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604619 http://www.informatics.jax.org/searchtool/Search.do?query=LGI1&submit=Quick%0D%3687ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGI1 rs371933363 0.453075 0 0.4481 1 0 0 intronic intronic intronic LGI1 LGI1 ENSG00000108231 Na Na Na Na Na Na Het;+TT 695;6|28 Het;+TT 739;8|29 Hom;+TT 986;1|32 N N - 10 95658258 95658258 C G snp ncRNA_intronic BC036382 rs11187724 0.53115 0 0 1 0 0 intronic ncRNA_intronic intronic SLC35G1 BC036382 ENSG00000176273 Na Na Na Na Na Na Het;C>G 91;2|4 Het;C>G 35;6|2 Hom;C>G 518;0|17 N N - 10 95667026 95667026 T C snp ncRNA_exonic BC036382 rs2113956 0.544529 0 0 1 0 0 intergenic ncRNA_exonic UTR3 SLC35G1(dist=4535),PIPSL(dist=50871) BC036382 ENSG00000176273(ENST00000483386:c.*291T>C) Na Na Na Na Na Na Het;T>C 3828;97|102 Het;T>C 2169;118|96 Hom;T>C 6875;0|196 N N - 10 95667270 95667270 G A snp ncRNA_exonic BC036382 rs11187729 0.544529 0 0 1 0 0 intergenic ncRNA_exonic UTR3 SLC35G1(dist=4779),PIPSL(dist=50627) BC036382 ENSG00000176273(ENST00000483386:c.*535G>A) Na Na Na Na Na Na Het;G>A 2123;85|83 Het;G>A 2037;78|84 Hom;G>A 4072;0|149 N N - 10 95667552 95667567 CAAAATAAAATAAAAT C indel ncRNA_exonic BC036382 rs148819499 0 0 0 1 0 0 intergenic ncRNA_exonic UTR3 SLC35G1(dist=5061),PIPSL(dist=50330) BC036382 ENSG00000176273(ENST00000483386:c.*817_*832delinsC) Na Na Na Na Na Na Het;-AAAATAAAATAAAAT 771;27|22 Het;-AAAATAAAATAAAAT 820;24|23 Hom;-AAAATAAAATAAAAT 1274;0|29 N N - 10 95669224 95669225 AT A indel ncRNA_exonic BC036382 rs5787089 0.545128 0 0 1 0 0 intergenic ncRNA_exonic UTR3 SLC35G1(dist=6733),PIPSL(dist=48672) BC036382 ENSG00000176273(ENST00000483386:c.*2489_*2490delinsA,ENST00000603665:c.*1560_*1561delinsA) Na Na Na Na Na Na Het;-T 1616;57|44 Het;-T 1992;55|53 Hom;-T 3689;0|85 N N - 10 95669226 95669226 T A snp ncRNA_exonic BC036382 rs200258205 0.545128 0 0 1 0 0 intergenic ncRNA_exonic UTR3 SLC35G1(dist=6735),PIPSL(dist=48671) BC036382 ENSG00000176273(ENST00000483386:c.*2491T>A,ENST00000603665:c.*1562T>A) Na Na Na Na Na Na Het;T>A 1625;57|44 Het;T>A 2001;55|53 Hom;T>A 3698;0|88 N N - 10 96954511 96954511 T A snp intronic ACSM6 rs681838 0.980232 0 0 1 0 0 intronic intronic intronic ACSM6 C10orf129 ENSG00000173124 Na Na Na Na Na Na Het;T>A 202;11|8 Het;T>A 55;18|5 Hom;T>A 665;0|21 N N - 10 97192093 97192093 C G snp intronic SORBS1 Sorbs1 ENSG00000095637 sorbin and SH3 domain containing 1 chr10:97071528-97321171 This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. Smooth Muscle Contraction GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SORBS1 https://www.uniprot.org/uniprot/Q9BX66 https://www.ncbi.nlm.nih.gov/omim/?term=605264 http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1 rs943541 0.190096 0 0 1 0 0 intronic intronic intronic SORBS1 SORBS1 ENSG00000095637 Na Na Na Na Na Na Het;C>G 299;3|8 Ref Hom;C>G 143;0|4 N N - 10 97392969 97392969 G A snp intronic ALDH18A1 Aldh18a1 ENSG00000059573 aldehyde dehydrogenase 18 family member A1 chr10:97365696-97416463 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Tobacco Use Disorder Amino acid synthesis and interconversion (transamination) GO:0006536;glutamate metabolic process;IMP|GO:0006561;proline biosynthetic process;TAS|GO:0006592;ornithine biosynthetic process;IMP|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0019240;citrulline biosynthetic process;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0055129;L-proline biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004349;glutamate 5-kinase activity;IEA|GO:0004350;glutamate-5-semialdehyde dehydrogenase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017084;delta1-pyrroline-5-carboxylate synthetase activity;EXP|GO:0042802;identical protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ALDH18A1 https://www.uniprot.org/uniprot/P54886 https://hpo.jax.org/app/browse/search?q=ALDH18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138250 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH18A1&submit=Quick%0D%1047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH18A1 rs3750701 0.624201 0 0 1 0 0 intronic intronic intronic ALDH18A1 ALDH18A1 ENSG00000059573 Na Na Na Na Na Na Het;G>A 132;1|4 Ref Hom;G>A 152;0|4 N N - 10 97392993 97392993 T C snp intronic ALDH18A1 Aldh18a1 ENSG00000059573 aldehyde dehydrogenase 18 family member A1 chr10:97365696-97416463 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Tobacco Use Disorder Amino acid synthesis and interconversion (transamination) GO:0006536;glutamate metabolic process;IMP|GO:0006561;proline biosynthetic process;TAS|GO:0006592;ornithine biosynthetic process;IMP|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0019240;citrulline biosynthetic process;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0055129;L-proline biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004349;glutamate 5-kinase activity;IEA|GO:0004350;glutamate-5-semialdehyde dehydrogenase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017084;delta1-pyrroline-5-carboxylate synthetase activity;EXP|GO:0042802;identical protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ALDH18A1 https://www.uniprot.org/uniprot/P54886 https://hpo.jax.org/app/browse/search?q=ALDH18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138250 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH18A1&submit=Quick%0D%1047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH18A1 rs3750700 0.642173 0 0 1 0 0 intronic intronic intronic ALDH18A1 ALDH18A1 ENSG00000059573 Na Na Na Na Na Na Het;T>C 127;3|4 Ref Hom;T>C 258;0|7 N N - 10 97397227 97397227 T C snp intronic ALDH18A1 Aldh18a1 ENSG00000059573 aldehyde dehydrogenase 18 family member A1 chr10:97365696-97416463 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Tobacco Use Disorder Amino acid synthesis and interconversion (transamination) GO:0006536;glutamate metabolic process;IMP|GO:0006561;proline biosynthetic process;TAS|GO:0006592;ornithine biosynthetic process;IMP|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0019240;citrulline biosynthetic process;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0055129;L-proline biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004349;glutamate 5-kinase activity;IEA|GO:0004350;glutamate-5-semialdehyde dehydrogenase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017084;delta1-pyrroline-5-carboxylate synthetase activity;EXP|GO:0042802;identical protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ALDH18A1 https://www.uniprot.org/uniprot/P54886 https://hpo.jax.org/app/browse/search?q=ALDH18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138250 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH18A1&submit=Quick%0D%1047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH18A1 rs2275273 0.642572 0.6667 0.6862 1 0 0 intronic intronic intronic ALDH18A1 ALDH18A1 ENSG00000059573 Na Na Na Na Na Na Het;T>C 749;29|30 Het;T>C 657;35|31 Hom;T>C 1478;0|54 N N - 10 97423708 97423708 C A snp UTR3 *116G>T TCTN3 Tctn3 ENSG00000119977 tectonic family member 3 chr10:97423158-97453900 This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] Coronary Artery Disease; Alzheimer's disease Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number. Anchoring of the basal body to the plasma membrane GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/TCTN3 https://www.uniprot.org/uniprot/Q6NUS6 https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613847 http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3 rs6946 0.194089 0 0 1 0 0 UTR3 UTR3 UTR3 TCTN3(NM_001143973:c.*116G>T,NM_015631:c.*116G>T) TCTN3(uc001klb.4:c.*116G>T,uc010qoi.2:c.*116G>T) ENSG00000119977(ENST00000265993:c.*116G>T,ENST00000371217:c.*116G>T,ENST00000430368:c.*116G>T) Na Na Na Na Na Na Het;C>A 90;7|4 Het;C>A 280;2|9 Hom;C>A 233;0|7 N N - 10 98088387 98088387 A C snp intronic DNTT Dntt ENSG00000107447 DNA nucleotidylexotransferase chr10:98064085-98098321 This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] Alzheimer's disease Homozygous inactivation of this gene results in lack of "N" nucleotide insertions at the junctions of immunoglobulin and T cell receptor V(D)J rearrangements. Forced expression of terminal deoxynucleotidyl transferase in fetal thymus leads to decreased gamma-delta T cell number. GO:0006259;DNA metabolic process;IDA|GO:0006304;DNA modification;IEA|GO:0033198;response to ATP;IEA|GO:0071897;DNA biosynthetic process;IEA GO:0000790;nuclear chromatin;IEA|GO:0000791;euchromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0003912;DNA nucleotidylexotransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNTT https://www.uniprot.org/uniprot/P04053 https://www.ncbi.nlm.nih.gov/omim/?term=187410 http://www.informatics.jax.org/searchtool/Search.do?query=DNTT&submit=Quick%0D%3608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNTT rs10882773 0.707468 0 0 1 0 0 intronic intronic intronic DNTT DNTT ENSG00000107447 Na Na Na Na Na Na Het;A>C 665;14|23 Het;A>C 286;16|10 Hom;A>C 1185;0|38 N N - 10 98111279 98111279 C T snp intronic OPALIN Opalin ENSG00000197430 oligodendrocytic myelin paranodal and inner loop protein chr10:98102973-98119092 Mice homozygous for a knock-out allele show increased exploratory activity in a novel environment. GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044291;cell-cell contact zone;IEA http://www.genecards.org/index.php?path=/Search/keyword/OPALIN https://www.ncbi.nlm.nih.gov/omim/?term=617200 http://www.informatics.jax.org/searchtool/Search.do?query=OPALIN&submit=Quick%0D%16625ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OPALIN rs2146392 0.617412 0 0 1 0 0 intronic intronic intronic OPALIN OPALIN ENSG00000197430 Na Na Na Na Na Na Het;C>T 208;7|8 Het;C>T 221;9|10 Hom;C>T 267;0|9 N N - 10 98138568 98138568 G A snp intronic TLL2 Tll2 ENSG00000095587 tolloid like 2 chr10:98124363-98273675 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Attention Deficit Disorder with Hyperactivity; ADHD | attention-deficit hyperactivity disorder Homozygous mutation of this gene results in increased muscle weight. Crosslinking of collagen fibrils GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0048632;negative regulation of skeletal muscle tissue growth;IEA GO:0005576;extracellular region;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TLL2 https://www.uniprot.org/uniprot/Q9Y6L7 https://www.ncbi.nlm.nih.gov/omim/?term=606743 http://www.informatics.jax.org/searchtool/Search.do?query=TLL2&submit=Quick%0D%2253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLL2 rs3827865 0.405551 0 0 1 0 0 intronic intronic intronic TLL2 TLL2 ENSG00000095587 Na Na Na Na Na Na Het;G>A 264;10|9 Het;G>A 274;6|9 Hom;G>A 266;0|8 N N - 10 98416533 98416533 C T snp intronic PIK3AP1 Pik3ap1 ENSG00000155629 phosphoinositide-3-kinase adaptor protein 1 chr10:98353069-98480271 prostate cancer; Alzheimer's disease Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0034134;toll-like receptor 2 signaling pathway;ISS|GO:0034142;toll-like receptor 4 signaling pathway;ISS|GO:0034154;toll-like receptor 7 signaling pathway;ISS|GO:0034162;toll-like receptor 9 signaling pathway;ISS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050727;regulation of inflammatory response;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3AP1 https://www.uniprot.org/uniprot/Q6ZUJ8 https://www.ncbi.nlm.nih.gov/omim/?term=607942 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3AP1&submit=Quick%0D%9884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3AP1 rs3748231 0.28115 0.2658 0.2941 1 0 0 intronic intronic intronic PIK3AP1 PIK3AP1 ENSG00000155629 Na Na Na Na Na Na Het;C>T 1764;88|80 Ref Hom;C>T 4288;0|157 N N - 10 98469693 98469693 C T snp nonsynonymous SNV G61A E21K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) PIK3AP1 Pik3ap1 ENSG00000155629 phosphoinositide-3-kinase adaptor protein 1 chr10:98353069-98480271 prostate cancer; Alzheimer's disease Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0034134;toll-like receptor 2 signaling pathway;ISS|GO:0034142;toll-like receptor 4 signaling pathway;ISS|GO:0034154;toll-like receptor 7 signaling pathway;ISS|GO:0034162;toll-like receptor 9 signaling pathway;ISS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050727;regulation of inflammatory response;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3AP1 https://www.uniprot.org/uniprot/Q6ZUJ8 https://www.ncbi.nlm.nih.gov/omim/?term=607942 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3AP1&submit=Quick%0D%9884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3AP1 rs17112076 0.125399 0.1289 0.1584 0.08 1 13 exonic exonic exonic PIK3AP1 PIK3AP1 ENSG00000155629 nonsynonymous SNV nonsynonymous SNV unknown PIK3AP1:NM_152309:exon2:c.G61A:p.E21K, PIK3AP1:uc001kmq.3:exon2:c.G61A:p.E21K, UNKNOWN Het;C>T 1630;89|75 Ref Hom;C>T 3993;0|150 N N - 10 98469854 98469854 G A snp intronic PIK3AP1 Pik3ap1 ENSG00000155629 phosphoinositide-3-kinase adaptor protein 1 chr10:98353069-98480271 prostate cancer; Alzheimer's disease Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0034134;toll-like receptor 2 signaling pathway;ISS|GO:0034142;toll-like receptor 4 signaling pathway;ISS|GO:0034154;toll-like receptor 7 signaling pathway;ISS|GO:0034162;toll-like receptor 9 signaling pathway;ISS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050727;regulation of inflammatory response;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3AP1 https://www.uniprot.org/uniprot/Q6ZUJ8 https://www.ncbi.nlm.nih.gov/omim/?term=607942 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3AP1&submit=Quick%0D%9884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3AP1 rs61856809 0.134984 0 0 1 0 0 intronic intronic intronic PIK3AP1 PIK3AP1 ENSG00000155629 Na Na Na Na Na Na Het;G>A 421;24|18 Ref Hom;G>A 708;0|24 N N - 10 98909854 98909854 C A snp intronic SLIT1 Slit1 ENSG00000187122 slit guidance ligand 1 chr10:98757795-98945677 Alzheimer's disease ; Brain Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology. Netrin-1 signaling GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IDA|GO:0008045;motor neuron axon guidance;IMP|GO:0021772;olfactory bulb development;IEA|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048846;axon extension involved in axon guidance;IDA|GO:0048853;forebrain morphogenesis;NAS|GO:0050919;negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005623;cell;IEA GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLIT1 https://www.ncbi.nlm.nih.gov/omim/?term=603742 http://www.informatics.jax.org/searchtool/Search.do?query=SLIT1&submit=Quick%0D%15783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT1 rs2784923 0.748403 0 0 1 0 0 intronic intronic intronic SLIT1 SLIT1 ENSG00000187122,ENSG00000269891 Na Na Na Na Na Na Het;C>A 359;9|15 Het;C>A 224;10|11 Hom;C>A 526;0|20 N N - 10 99371344 99371344 C A snp synonymous SNV C423A A141A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HOGA1 Hoga1 ENSG00000241935 4-hydroxy-2-oxoglutarate aldolase 1 chr10:99344080-99372559 The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010] Metabolism Mice homozygous for a knock-out allele exhibit normal urinary excretion of oxalate but show increased urine 2,4-dihydroxyglutarate (DHG) levels especially when challenged by the inclusion of hydroxyproline in the diet. Glyoxylate metabolism and glycine degradation GO:0008152;metabolic process;IEA|GO:0009436;glyoxylate catabolic process;IMP|GO:0019470;4-hydroxyproline catabolic process;IDA|GO:0033609;oxalate metabolic process;IMP|GO:0042866;pyruvate biosynthetic process;IDA|GO:0046487;glyoxylate metabolic process;TAS GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0008700;4-hydroxy-2-oxoglutarate aldolase activity;IDA|GO:0016829;lyase activity;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HOGA1 https://hpo.jax.org/app/browse/search?q=HOGA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613597 http://www.informatics.jax.org/searchtool/Search.do?query=HOGA1&submit=Quick%0D%19698ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOGA1 rs12261752 0.317492 0.3015 0.3076 1 0 0 exonic exonic exonic HOGA1 HOGA1 ENSG00000241935 synonymous SNV synonymous SNV unknown HOGA1:NM_001134670:exon3:c.C423A:p.A141A,HOGA1:NM_138413:exon7:c.C912A:p.A304A, HOGA1:uc001knz.3:exon3:c.C423A:p.A141A,HOGA1:uc001kny.3:exon7:c.C912A:p.A304A, UNKNOWN Het;C>A 1549;71|71 Het;C>A 1196;59|58 Hom;C>A 3838;0|144 N N - 10 99416303 99416303 T C snp intronic PI4K2A Pi4k2a ENSG00000155252 phosphatidylinositol 4-kinase type 2 alpha chr10:99344131-99433667 Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] Alzheimer's disease Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. Synthesis of PIPs at the early endosome membrane GO:0002561;basophil degranulation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007030;Golgi organization;IBA|GO:0007032;endosome organization;IBA|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IDA GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031083;BLOC-1 complex;IDA|GO:0031224;intrinsic component of membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0035838;growing cell tip;IEA|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0044231;host cell presynaptic membrane;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070382;exocytic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035651;AP-3 adaptor complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PI4K2A https://www.uniprot.org/uniprot/Q9BTU6 https://www.ncbi.nlm.nih.gov/omim/?term=609763 http://www.informatics.jax.org/searchtool/Search.do?query=PI4K2A&submit=Quick%0D%9850ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4K2A rs1889475 0.509385 0 0 1 0 0 intronic intronic intronic PI4K2A PI4K2A ENSG00000155252,ENSG00000249967 Na Na Na Na Na Na Het;T>C 410;10|13 Ref Hom;T>C 314;0|10 N N - 10 99422648 99422648 A G snp intronic PI4K2A Pi4k2a ENSG00000155252 phosphatidylinositol 4-kinase type 2 alpha chr10:99344131-99433667 Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] Alzheimer's disease Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. Synthesis of PIPs at the early endosome membrane GO:0002561;basophil degranulation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007030;Golgi organization;IBA|GO:0007032;endosome organization;IBA|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IDA GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031083;BLOC-1 complex;IDA|GO:0031224;intrinsic component of membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0035838;growing cell tip;IEA|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0044231;host cell presynaptic membrane;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070382;exocytic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035651;AP-3 adaptor complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PI4K2A https://www.uniprot.org/uniprot/Q9BTU6 https://www.ncbi.nlm.nih.gov/omim/?term=609763 http://www.informatics.jax.org/searchtool/Search.do?query=PI4K2A&submit=Quick%0D%9850ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4K2A rs7905087 0.406949 0.4207 0.3864 1 0 0 intronic intronic intronic PI4K2A PI4K2A ENSG00000155252,ENSG00000249967 Na Na Na Na Na Na Het;A>G 794;20|37 Het;A>G 781;36|34 Hom;A>G 1804;0|69 N N - 10 99426975 99426975 C T snp intronic PI4K2A Pi4k2a ENSG00000155252 phosphatidylinositol 4-kinase type 2 alpha chr10:99344131-99433667 Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] Alzheimer's disease Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. Synthesis of PIPs at the early endosome membrane GO:0002561;basophil degranulation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007030;Golgi organization;IBA|GO:0007032;endosome organization;IBA|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IDA GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031083;BLOC-1 complex;IDA|GO:0031224;intrinsic component of membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0035838;growing cell tip;IEA|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0044231;host cell presynaptic membrane;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070382;exocytic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035651;AP-3 adaptor complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PI4K2A https://www.uniprot.org/uniprot/Q9BTU6 https://www.ncbi.nlm.nih.gov/omim/?term=609763 http://www.informatics.jax.org/searchtool/Search.do?query=PI4K2A&submit=Quick%0D%9850ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4K2A rs4254004 0.506589 0 0 1 0 0 intronic intronic intronic PI4K2A PI4K2A ENSG00000155252,ENSG00000249967 Na Na Na Na Na Na Het;C>T 49;6|5 Ref Hom;C>T 434;1|19 N N - 10 99437822 99437822 A G snp intronic AVPI1 Avpi1 ENSG00000119986 arginine vasopressin induced 1 chr10:99437181-99447080 Blood Pressure; Alzheimer's disease GO:0000187;activation of MAPK activity;IEA|GO:0007049;cell cycle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AVPI1 https://www.uniprot.org/uniprot/Q5T686 http://www.informatics.jax.org/searchtool/Search.do?query=AVPI1&submit=Quick%0D%5151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPI1 rs3750564 0.508586 0.4825 0.4393 1 0 0 intronic intronic intronic AVPI1 AVPI1 ENSG00000119986 Na Na Na Na Na Na Het;A>G 793;37|37 Het;A>G 485;19|18 Hom;A>G 1233;0|48 N N - 10 99439541 99439541 G C snp nonsynonymous SNV C122G A41G aliphatic,hydrophobic,neutral aliphatic,neutral AVPI1 Avpi1 ENSG00000119986 arginine vasopressin induced 1 chr10:99437181-99447080 Blood Pressure; Alzheimer's disease GO:0000187;activation of MAPK activity;IEA|GO:0007049;cell cycle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AVPI1 https://www.uniprot.org/uniprot/Q5T686 http://www.informatics.jax.org/searchtool/Search.do?query=AVPI1&submit=Quick%0D%5151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPI1 rs2275047 0.508187 0.4809 0.4389 0.25 3 12 exonic exonic exonic AVPI1 AVPI1 ENSG00000119986 nonsynonymous SNV nonsynonymous SNV unknown AVPI1:NM_021732:exon2:c.C122G:p.A41G, AVPI1:uc001koi.2:exon3:c.C122G:p.A41G,AVPI1:uc001koh.1:exon2:c.C122G:p.A41G, UNKNOWN Het;G>C 2340;85|97 Het;G>C 1705;78|77 Hom;G>C 4026;1|135 N N - 10 99439703 99439703 A T snp intronic AVPI1 Avpi1 ENSG00000119986 arginine vasopressin induced 1 chr10:99437181-99447080 Blood Pressure; Alzheimer's disease GO:0000187;activation of MAPK activity;IEA|GO:0007049;cell cycle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AVPI1 https://www.uniprot.org/uniprot/Q5T686 http://www.informatics.jax.org/searchtool/Search.do?query=AVPI1&submit=Quick%0D%5151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPI1 rs11595249 0.507987 0.4458 0.4724 1 0 0 intronic intronic intronic AVPI1 AVPI1 ENSG00000119986 Na Na Na Na Na Na Het;A>T 1308;68|53 Het;A>T 1332;48|35 Hom;A>T 2666;0|73 N N - 10 99439724 99439724 C T snp intronic AVPI1 Avpi1 ENSG00000119986 arginine vasopressin induced 1 chr10:99437181-99447080 Blood Pressure; Alzheimer's disease GO:0000187;activation of MAPK activity;IEA|GO:0007049;cell cycle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AVPI1 https://www.uniprot.org/uniprot/Q5T686 http://www.informatics.jax.org/searchtool/Search.do?query=AVPI1&submit=Quick%0D%5151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPI1 rs2151931 0.507788 0 0 1 0 0 intronic intronic intronic AVPI1 AVPI1 ENSG00000119986 Na Na Na Na Na Na Het;C>T 921;52|38 Het;C>T 347;42|19 Hom;C>T 1549;0|56 N N - 11 10164365 10164365 C G snp intronic SBF2 Sbf2 ENSG00000133812 SET binding factor 2 chr11:9800214-10315754 This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Body Composition; Carotid Stenosis; Tobacco Use Disorder; lipid levels; Basophils Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. RAB GEFs exchange GTP for GDP on RABs GO:0042552;myelination;NAS|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051262;protein tetramerization;IEA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA|GO:0019902;phosphatase binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF2 https://www.uniprot.org/uniprot/Q86WG5 https://hpo.jax.org/app/browse/search?q=SBF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607697 http://www.informatics.jax.org/searchtool/Search.do?query=SBF2&submit=Quick%0D%6874ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF2 rs11042643 0.160942 0 0 1 0 0 intronic intronic intronic SBF2 SBF2 ENSG00000133812 Na Na Na Na Na Na Het;C>G 188;4|6 Het;C>G 126;3|4 Hom;C>G 253;0|7 N N - 11 101863706 101863706 C T snp intronic KIAA1377 rs1274901 0.577077 0 0 1 0 0 intronic intronic intronic KIAA1377 KIAA1377 ENSG00000110318 Na Na Na Na Na Na Het;C>T 44;4|2 Ref Hom;C>T 119;0|4 N N - 11 10215598 10215598 C T snp intronic SBF2 Sbf2 ENSG00000133812 SET binding factor 2 chr11:9800214-10315754 This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Body Composition; Carotid Stenosis; Tobacco Use Disorder; lipid levels; Basophils Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. RAB GEFs exchange GTP for GDP on RABs GO:0042552;myelination;NAS|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051262;protein tetramerization;IEA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA|GO:0019902;phosphatase binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF2 https://www.uniprot.org/uniprot/Q86WG5 https://hpo.jax.org/app/browse/search?q=SBF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607697 http://www.informatics.jax.org/searchtool/Search.do?query=SBF2&submit=Quick%0D%6874ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF2 rs4910097 0.360423 0 0 1 0 0 intronic intronic intronic SBF2 SBF2 ENSG00000133812 Na Na Na Na Na Na Het;C>T 539;10|19 Het;C>T 248;14|12 Hom;C>T 738;0|22 N N - 11 10518289 10518289 T C snp intronic AMPD3 Ampd3 ENSG00000133805 adenosine monophosphate deaminase 3 chr11:10329860-10529126 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. Purine salvage GO:0006188;IMP biosynthetic process;IEA|GO:0006196;AMP catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0032264;IMP salvage;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046031;ADP metabolic process;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046039;GTP metabolic process;IEA|GO:0097009;energy homeostasis;IEA GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003876;AMP deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMPD3 https://www.uniprot.org/uniprot/Q01432 https://hpo.jax.org/app/browse/search?q=AMPD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102772 http://www.informatics.jax.org/searchtool/Search.do?query=AMPD3&submit=Quick%0D%6872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPD3 rs1466426 0.726438 0 0 1 0 0 intronic intronic intronic AMPD3 AMPD3 ENSG00000133805 Na Na Na Na Na Na Het;T>C 397;27|16 Het;T>C 438;21|18 Hom;T>C 939;0|27 N N - 11 10522978 10522978 G T snp intronic AMPD3 Ampd3 ENSG00000133805 adenosine monophosphate deaminase 3 chr11:10329860-10529126 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. Purine salvage GO:0006188;IMP biosynthetic process;IEA|GO:0006196;AMP catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0032264;IMP salvage;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046031;ADP metabolic process;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046039;GTP metabolic process;IEA|GO:0097009;energy homeostasis;IEA GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003876;AMP deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMPD3 https://www.uniprot.org/uniprot/Q01432 https://hpo.jax.org/app/browse/search?q=AMPD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102772 http://www.informatics.jax.org/searchtool/Search.do?query=AMPD3&submit=Quick%0D%6872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPD3 rs10840430 0.267372 0.2851 0.3137 1 0 0 intronic intronic intronic AMPD3 AMPD3 ENSG00000133805 Na Na Na Na Na Na Het;G>T 137;11|8 Het;G>T 398;12|22 Hom;G>T 358;0|13 N N - 11 10526060 10526060 C T snp intronic AMPD3 Ampd3 ENSG00000133805 adenosine monophosphate deaminase 3 chr11:10329860-10529126 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. Purine salvage GO:0006188;IMP biosynthetic process;IEA|GO:0006196;AMP catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0032264;IMP salvage;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0046031;ADP metabolic process;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046039;GTP metabolic process;IEA|GO:0097009;energy homeostasis;IEA GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003876;AMP deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMPD3 https://www.uniprot.org/uniprot/Q01432 https://hpo.jax.org/app/browse/search?q=AMPD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102772 http://www.informatics.jax.org/searchtool/Search.do?query=AMPD3&submit=Quick%0D%6872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPD3 rs7943804 0.861821 0.8683 0.8835 1 0 0 intronic intronic intronic AMPD3 AMPD3 ENSG00000133805 Na Na Na Na Na Na Het;C>T 827;39|38 Het;C>T 726;36|34 Hom;C>T 1544;0|53 N N - 11 10552022 10552022 G C snp intronic RNF141 Rnf141 ENSG00000110315 ring finger protein 141 chr11:10533225-10562777 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008] Apolipoproteins C Mice homozygous for a targeted allele exhibit decreased litter size but normal spermatogeness and testes weight. GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0051865;protein autoubiquitination;IDA GO:0016020;membrane;IEA GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF141 https://www.uniprot.org/uniprot/Q8WVD5 https://www.ncbi.nlm.nih.gov/omim/?term=616641 http://www.informatics.jax.org/searchtool/Search.do?query=RNF141&submit=Quick%0D%3946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF141 rs4910152 0.704872 0 0 1 0 0 intronic intronic intronic RNF141 RNF141 ENSG00000110315 Na Na Na Na Na Na Het;G>C 42;3|2 Het;G>C 201;3|6 Hom;G>C 137;0|4 N N - 11 10563090 10563090 G T snp ncRNA_splicing MRVI1-AS1 rs1462941 0.198283 0 0 1 0 0 ncRNA_splicing ncRNA_splicing ncRNA_splicing MRVI1-AS1(NR_046375:exon1:c.307+1G>T,NR_046374:exon1:c.307+1G>T,NR_034093:exon1:c.307+1G>T,NR_034094:exon1:c.307+1G>T) MRVI1-AS1(uc031pza.1:exon1:c.307+1G>T,uc031pzb.1:exon1:c.307+1G>T,uc001miu.4:exon1:c.307+1G>T,uc021qds.2:exon1:c.307+1G>T) ENSG00000177112(ENST00000529829:exon1:c.271+1G>T,ENST00000529979:exon1:c.246+1G>T) Na Na Na Na Na Na Het;G>T 1114;49|53 Het;G>T 393;48|22 Hom;G>T 2020;0|68 N N - 11 10773049 10773049 G A snp intronic CTR9 Ctr9 ENSG00000198730 CTR9 homolog, Paf1/RNA polymerase II complex component chr11:10772534-10801290 The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016] Coronary Disease; Osteoporosis E3 ubiquitin ligases ubiquitinate target proteins GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001711;endodermal cell fate commitment;IEA|GO:0001826;inner cell mass cell differentiation;IEA|GO:0001829;trophectodermal cell differentiation;IEA|GO:0001832;blastocyst growth;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007259;JAK-STAT cascade;IEA|GO:0010390;histone monoubiquitination;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016570;histone modification;IEA|GO:0019827;stem cell population maintenance;IDA|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0033523;histone H2B ubiquitination;IDA|GO:0045638;negative regulation of myeloid cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0070102;interleukin-6-mediated signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0080182;histone H3-K4 trimethylation;IMP|GO:1900364;negative regulation of mRNA polyadenylation;IMP|GO:2000653;regulation of genetic imprinting;IEA|GO:2001162;positive regulation of histone H3-K79 methylation;IMP|GO:2001168;positive regulation of histone H2B ubiquitination;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016593;Cdc73/Paf1 complex;IDA|GO:0016607;nuclear speck;IEA|GO:0035327;transcriptionally active chromatin;IEA GO:0000993;RNA polymerase II core binding;IBA|GO:0005515;protein binding;IPI|GO:0042169;SH2 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTR9 https://www.ncbi.nlm.nih.gov/omim/?term=609366 http://www.informatics.jax.org/searchtool/Search.do?query=CTR9&submit=Quick%0D%16980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTR9 rs2279697 0.355232 0.3362 0.3975 1 0 0 intronic intronic intronic CTR9 CTR9 ENSG00000198730 Na Na Na Na Na Na Het;G>A 532;35|24 Het;G>A 678;28|32 Hom;G>A 1323;1|49 N N - 11 10886727 10886727 T C snp ncRNA_intronic ZBED5-AS1 rs7106192 0.645966 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic ZBED5-AS1 ZBED5-AS1 ENSG00000247271 Na Na Na Na Na Na Het;T>C 345;22|13 Het;T>C 538;7|16 Hom;T>C 1015;0|30 N N - 11 111167206 111167207 CA C indel ncRNA_exonic C11orf92 rs5794737 0 0 0.1159 1 0 0 UTR5 ncRNA_exonic UTR5 COLCA1(NM_001302646:c.-3_-4delinsG,NM_207429:c.-3_-4delinsG,NM_001302644:c.-3_-4delinsG,NM_001302647:c.-3_-4delinsG,NM_001302648:c.-3_-4delinsG,NM_001302645:c.-3_-4delinsG) C11orf92 ENSG00000196167(ENST00000532918:c.-3_-4delinsG,ENST00000355430:c.-3_-4delinsG) Na Na Na Na Na Na Het;-A 63;2|6 Ref Hom;-A 54;0|5 N N - 11 11303288 11303288 C CT indel intronic GALNT18 Galnt18 ENSG00000110328 polypeptide N-acetylgalactosaminyltransferase 18 chr11:11292423-11643552 Leukocyte Count; Tobacco Use Disorder; Body Composition; Body Mass Index; prostate cancer; Potassium; Arthritis, Rheumatoid; Celiac Disease| O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT18 https://www.uniprot.org/uniprot/Q6P9A2 https://www.ncbi.nlm.nih.gov/omim/?term=615136 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT18&submit=Quick%0D%3950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT18 rs34401870 0.342851 0 0 1 0 0 intronic intronic intronic GALNT18 GALNT18 ENSG00000110328 Na Na Na Na Na Na Het;+T 57;3|3 Ref Hom;+T 161;0|6 N N - 11 113396081 113396081 A G snp intergenic DRD2 Drd2 ENSG00000149295 dopamine receptor D2 chr11:113280318-113346413 This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008] attention deficit hyperactivity disorder; impulsivity; alcoholism antisocial personality disorder; Brain Injuries; several psychiatric disorders; Hypercholesterolemia|LDLC levels; myoclonus dystonia; heritability of stature; diabetes, type 2; perceived parenting; delinquent behavior violent behavior; obesity|ovarian cancer; impulse control disorder; metabolic syndrome; Stuttering; personality traits; neuroleptic malignant syndrome; Lymphoma, Non-Hodgkin; Prenatal Exposure Delayed Effects; risperidone and perospirone; schizophrenia | bipolar disorder; Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local; Alzheimer's disease ; Migraine with Aura; mood disorders; major psychosis; Hyperprolactinemia|Tic Disorders; substance abusers; juvenile endogenous attack-like psychoses; mother and child behavior; weight gain; musical aptitude; human intelligence; alcoholism attention deficit hyperactivity disorder; Parkinson's disease; sleep disorders; anovulation and fecundity; alcohol-use disorders; continuous performance task; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; smoking; delirium; Substance Withdrawal Syndrome; Hyperprolactinaemia|Hyperprolactinemia; lung cancer ; lithium; Anemia, Iron-Deficiency|Iron deficiency anaemia; Memory Disorders; creation of victimization; aura anxiety and depression; Alcohol Dependence; Tobacco Use Disorder; anorexia nervosa; depressive disorder, major; schizophrenia; schizoaffective disorder; affective disorder; Migraine Disorders; short-term response to haloperidol treatment; olanzapine; tic; combined vocal and multiple motor|Tourette Syndrome; temperament; severity of alcohol dependence; brain receptor-binding characteristics; alcohol consumption; bipolar disorder; depression; alcohol; Amphetamine-Related Disorders|; suicide; Parkinson's disease ; ADHD; panic disorder; migraine; delirium tremens; Blood Pressure Determination; autism; general cognitive ability; alcohol dependency; financial and psychological risk attitudes; substance abuse; dyslexia; heroin use and response to methadone treatment; alcohol abuse; chronic obstructive pulmonary disease; Iron; schizoaffective disorder schizophrenia tardive dyskinesia; Type 2 Diabetes| edema | rosiglitazone; Memory, Short-Term; cocaine dependence.; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; caffeine-induced anxiety.; dystonia, acute parkinsonism tardive dyskinesia; posttraumatic stress disorder.; Autism; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; null; depression; Adenoma|Pituitary Neoplasms; cognitive impairment; heroin abuse; antisocial personality disorder; Obesity|Weight Gain; bipolar disorder; major depressive disorder; rapid cycling mood disorder; antisocial behavioural traits; Body Weight|Obesity; colorectal cancer; Substance-Related Disorders; posttraumatic stress disorder; risperidone-induced extrapyramidal symptoms; Brain Injuries|Memory Disorders; alcoholism; cirrhosis; Alcoholism|; Alcoholism|Basal Ganglia Diseases; BMI; early-onset alcoholism; antisocial behavior conduct disorder; stuttering; narcolepsy; cocaine abuse; smoking behavior; Heroin Dependence; Substance Withdrawal Syndrome|Substance-Related Disorders; schizophrenia; opium abuse; pharmacogenetic studies; alcohol abuse smoking behavior; ADHD | attention deficit hyperactivity disorder; psychoses; methamphetamine dependence; Psychoses, Substance-Induced; Cocaine-Related Disorders; reduced energy expenditure; cirrhosis, alcoholic; alcoholism; alcoholism; renal disease, end stage; migraine; Akathisia, Drug-Induced|Dystonia; Alcoholism|Substance-Related Disorders; Birth Weight; Alcoholism; Nervous System Diseases; reduced dopamine D2 receptor density; breast cancer; cigarette smoking behavior and reward; personality disorders; treatment response in electroconvulsive therapy; Parkinson's disease; schizophrenia; dopamine receptor sensitivity; nicotine dependence; Basal Ganglia Diseases; obesity; Alcoholism|Marijuana Abuse|Substance-Related Disorders; Alcoholism|Disease Susceptibility; Tourette syndrome; reduced dopamine D2 receptor binding; lung cancer; Obesity, Morbid; tardive dyskinesia; Atrial Natriuretic Factor; Hyperphagia|Obesity|Weight Gain; Glomerulonephritis, IGA; personality trait detachment; Bulimia; cocaine dependence; Dengue Hemorrhagic Fever; Alcoholism|Stress; Neuroleptic Malignant Syndrome; gambling behaviour; Schizophrenia; alcohol dependence; substance use; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; stress disorder; alcoholism; Malnutrition; personality; methamphetamine abuse; Leiomyoma|Uterine Neoplasms; Substance Withdrawal Syndrome|Tobacco Use Disorder; Postoperative Nausea and Vomiting; binge eating disorder; Dyskinesia, Drug-Induced; antipsychotic agent-induced weight gain; opium abuse; metamphetamine dependence; hallucinations; Body Weight|Weight Gain; bipolar affective disorder; unipolar affective disorder; anxiety; normal variation; cognitive function; Parkinson's disease; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Alcoholism|Disorders; treatment response in psychotic patients; electrocortical measures of error and feedback processing; select biomarker traits; elevated blood pressure and personality disorders; Opioid-Related Disorders; bladder cancer; Marijuana Abuse|Psychoses, Substance-Induced; Cigarette Smoking; treatment resistance to typical neuroleptics; bipolar disorder; Obesity; mood disorder; attention deficit disorder conduct disorder oppositional defiant disorder; temperament traits; Weight Gain; changed midbrain volumes; Cardiovascular Diseases; Gastroparesis Homozygous null mice show Parkinson's disease like symptoms, including akinetic and bradykinetic behavior. Mice lacking only the long isoform are hypoactive and exhibit increased sterotypic behavior in response to dopamine agonists. G alpha (i) signalling events GO:0001659;temperature homeostasis;ISS|GO:0001666;response to hypoxia;IEA|GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0001964;startle response;IEA|GO:0001975;response to amphetamine;ISS|GO:0001976;neurological system process involved in regulation of systemic arterial blood pressure;ISS|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;ISS|GO:0002031;G-protein coupled receptor internalization;IEA|GO:0002052;positive regulation of neuroblast proliferation;ISS|GO:0002092;positive regulation of receptor internalization;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IDA|GO:0007212;dopamine receptor signaling pathway;IEA|GO:0007270;neuron-neuron synaptic transmission;ISS|GO:0007409;axonogenesis;ISS|GO:0007416;synapse assembly;ISS|GO:0007608;sensory perception of smell;ISS|GO:0007616;long-term memory;IEA|GO:0007625;grooming behavior;IEA|GO:0007626;locomotory behavior;ISS|GO:0007628;adult walking behavior;ISS|GO:0007631;feeding behavior;IEA|GO:0008104;protein localization;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0008306;associative learning;ISS|GO:0008542;visual learning;ISS|GO:0009416;response to light stimulus;ISS|GO:0009636;response to toxic substance;IBA|GO:0010039;response to iron ion;IEA|GO:0014059;regulation of dopamine secretion;IBA|GO:0014854;response to inactivity;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021756;striatum development;IEA|GO:0021769;orbitofrontal cortex development;IEA|GO:0021853;cerebral cortex GABAergic interneuron migration;ISS|GO:0021984;adenohypophysis development;ISS|GO:0030336;negative regulation of cell migration;ISS|GO:0030432;peristalsis;ISS|GO:0030534;adult behavior;IEA|GO:0030814;regulation of cAMP metabolic process;IDA|GO:0030900;forebrain development;IEA|GO:0031223;auditory behavior;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0032228;regulation of synaptic transmission, GABAergic;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0032922;circadian regulation of gene expression;ISS|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0034776;response to histamine;IDA|GO:0035094;response to nicotine;IEA|GO:0035810;positive regulation of urine volume;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042220;response to cocaine;ISS|GO:0042321;negative regulation of circadian sleep/wake cycle, sleep;IEA|GO:0042417;dopamine metabolic process;IC|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0043278;response to morphine;ISS|GO:0043408;regulation of MAPK cascade;IEA|GO:0043473;pigmentation;IEA|GO:0043666;regulation of phosphoprotein phosphatase activity;IEA|GO:0045471;response to ethanol;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0045776;negative regulation of blood pressure;ISS|GO:0045824;negative regulation of innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046488;phosphatidylinositol metabolic process;ISS|GO:0046676;negative regulation of insulin secretion;IEA|GO:0046717;acid secretion;IEA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0048169;regulation of long-term neuronal synaptic plasticity;ISS|GO:0048678;response to axon injury;IEA|GO:0048755;branching morphogenesis of a nerve;ISS|GO:0050482;arachidonic acid secretion;IDA|GO:0050709;negative regulation of protein secretion;IDA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051584;regulation of dopamine uptake involved in synaptic transmission;IC|GO:0051586;positive regulation of dopamine uptake involved in synaptic transmission;ISS|GO:0051823;regulation of synapse structural plasticity;IEA|GO:0051898;negative regulation of protein kinase B signaling;NAS|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060124;positive regulation of growth hormone secretion;ISS|GO:0060134;prepulse inhibition;ISS|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IGI|GO:0060160;negative regulation of dopamine receptor signaling pathway;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0090325;regulation of locomotion involved in locomotory behavior;IEA|GO:0099565;chemical synaptic transmission, postsynaptic;NAS|GO:1900168;positive regulation of glial cell-derived neurotrophic factor secretion;IDA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0030672;synaptic vesicle membrane;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0060170;ciliary membrane;IDA|GO:0097730;non-motile cilium;IDA GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004952;dopamine neurotransmitter receptor activity;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0035240;dopamine binding;IBA|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DRD2 https://www.uniprot.org/uniprot/P14416 https://hpo.jax.org/app/browse/search?q=DRD2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126450 http://www.informatics.jax.org/searchtool/Search.do?query=DRD2&submit=Quick%0D%9217ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DRD2 rs2514225 0.567292 0 0 1 0 0 intergenic intergenic intergenic DRD2(dist=50080),TMPRSS5(dist=162187) DRD2(dist=49668),TMPRSS5(dist=162187) ENSG00000149295(dist=49970),ENSG00000166682(dist=162191) Na Na Na Na Na Na Het;A>G 50;3|4 Ref Hom;A>G 192;0|8 N N - 11 11348828 11348828 A G snp intronic GALNT18 Galnt18 ENSG00000110328 polypeptide N-acetylgalactosaminyltransferase 18 chr11:11292423-11643552 Leukocyte Count; Tobacco Use Disorder; Body Composition; Body Mass Index; prostate cancer; Potassium; Arthritis, Rheumatoid; Celiac Disease| O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT18 https://www.uniprot.org/uniprot/Q6P9A2 https://www.ncbi.nlm.nih.gov/omim/?term=615136 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT18&submit=Quick%0D%3950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT18 rs745181 0.375399 0 0 1 0 0 intronic intronic intronic GALNT18 GALNT18 ENSG00000110328 Na Na Na Na Na Na Het;A>G 110;3|4 Het;A>G 348;3|11 Hom;A>G 418;0|12 N N - 11 11354346 11354346 T C snp synonymous SNV A1311G A437A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GALNT18 Galnt18 ENSG00000110328 polypeptide N-acetylgalactosaminyltransferase 18 chr11:11292423-11643552 Leukocyte Count; Tobacco Use Disorder; Body Composition; Body Mass Index; prostate cancer; Potassium; Arthritis, Rheumatoid; Celiac Disease| O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT18 https://www.uniprot.org/uniprot/Q6P9A2 https://www.ncbi.nlm.nih.gov/omim/?term=615136 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT18&submit=Quick%0D%3950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT18 rs901553 0.434704 0.3676 0.4155 1 0 0 exonic exonic exonic GALNT18 GALNT18 ENSG00000110328 synonymous SNV synonymous SNV unknown GALNT18:NM_198516:exon8:c.A1311G:p.A437A, GALNT18:uc001mjo.2:exon8:c.A1311G:p.A437A, UNKNOWN Het;T>C 1266;79|59 Het;T>C 938;73|48 Hom;T>C 3501;0|128 N N - 11 116706346 116706346 A T snp upstream;downstream ENSG00000235910 rs5081 0.086262 0 0 1 0 0 upstream;downstream downstream upstream;downstream APOA1-AS;APOA1 APOA1 ENSG00000235910;ENSG00000118137 Na Na Na Na Na Na Het;A>T 78;3|3 Ref Hom;A>T 139;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11863526 11863526 G T snp UTR5 -207G>T USP47 Usp47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 rs28364721 0.111022 0 0 1 0 0 UTR5 UTR5 UTR5 USP47(NM_017944:c.-207G>T,NM_001282659:c.-207G>T) USP47(uc001mjq.1:c.-207G>T,uc001mjr.3:c.-207G>T,uc001mjs.3:c.-207G>T) ENSG00000170242(ENST00000339865:c.-207G>T,ENST00000539466:c.-110773G>T,ENST00000527733:c.-207G>T) Na Na Na Na Na Na Het;G>T 73;4|4 Ref Hom;G>T 158;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11944265 11944265 A G snp intronic USP47 Usp47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 rs72857625 0.115615 0.1255 0.1669 1 0 0 intronic intronic intronic USP47 USP47 ENSG00000170242 Na Na Na Na Na Na Het;A>G 323;37|17 Het;A>G 854;47|40 Hom;A>G 2982;0|98 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11969414 11969414 G A snp intronic USP47 Usp47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 rs72857637 0.111022 0 0 1 0 0 intronic intronic intronic USP47 USP47 ENSG00000170242 Na Na Na Na Na Na Het;G>A 282;18|13 Het;G>A 175;12|9 Hom;G>A 848;0|30 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11969971 11969971 G A snp intronic USP47 Usp47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 rs72857639 0.111222 0.1226 0 1 0 0 intronic intronic intronic USP47 USP47 ENSG00000170242 Na Na Na Na Na Na Het;G>A 531;17|21 Het;G>A 526;23|24 Hom;G>A 1346;0|47 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11976628 11976628 G A snp synonymous SNV G3810A Q1270Q polar,hydrophilic,neutral polar,hydrophilic,neutral USP47 Usp47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 rs7933089 0.714257 0.7269 0.6850 1 0 0 exonic exonic exonic USP47 USP47 ENSG00000170242 synonymous SNV synonymous SNV unknown USP47:NM_001282659:exon27:c.G3810A:p.Q1270Q,USP47:NM_017944:exon26:c.G3606A:p.Q1202Q, USP47:uc001mjr.3:exon26:c.G3606A:p.Q1202Q,USP47:uc009ygi.3:exon5:c.G216A:p.Q72Q,USP47:uc001mjs.3:exon27:c.G3810A:p.Q1270Q, UNKNOWN Het;G>A 3517;129|143 Het;G>A 2819;133|119 Hom;G>A 8226;4|288 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11977573 11977573 T C snp synonymous SNV T3919C L1307L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral USP47 Usp47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 rs2307073 0.114217 0.1250 0.1527 1 0 0 exonic exonic exonic USP47 USP47 ENSG00000170242 synonymous SNV synonymous SNV unknown USP47:NM_001282659:exon28:c.T3919C:p.L1307L,USP47:NM_017944:exon27:c.T3715C:p.L1239L, USP47:uc001mjr.3:exon27:c.T3715C:p.L1239L,USP47:uc009ygi.3:exon6:c.T325C:p.L109L,USP47:uc001mjs.3:exon28:c.T3919C:p.L1307L, UNKNOWN Het;T>C 427;15|17 Het;T>C 206;21|12 Hom;T>C 1146;0|41 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 11988803 11988803 G A snp intronic DKK3 Dkk3 ENSG00000050165 dickkopf WNT signaling pathway inhibitor 3 chr11:11984653-12031316 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Polycystic Kidney, Autosomal Dominant; colorectal cancer; Bone Mineral Density; Carcinoma, Renal Cell|Kidney Neoplasms Mice homozygous for a knock-out allele are viable, fertile and euthyroid but exhibit hyperactivity, a slight but significant decrease in the frequency of natural killer cells, and significantly increased IgM, hemoglobin, and hematocrit levels. GO:0007275;multicellular organism development;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;NAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030325;adrenal gland development;IEP|GO:0032348;negative regulation of aldosterone biosynthetic process;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:1902613;negative regulation of anti-Mullerian hormone signaling pathway;TAS|GO:2000065;negative regulation of cortisol biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS http://www.genecards.org/index.php?path=/Search/keyword/DKK3 https://www.uniprot.org/uniprot/Q9UBP4 https://www.ncbi.nlm.nih.gov/omim/?term=605416 http://www.informatics.jax.org/searchtool/Search.do?query=DKK3&submit=Quick%0D%922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKK3 rs56205137 0.0930511 0 0 1 0 0 intronic intronic intronic DKK3 DKK3 ENSG00000050165 Na Na Na Na Na Na Het;G>A 392;11|13 Het;G>A 305;4|10 Hom;G>A 330;0|10 N N - 11 120998942 120998942 C T snp synonymous SNV C2256T I752I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TECTA Tecta ENSG00000109927 tectorin alpha chr11:120971882-121062202 The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Hip; autosomal dominant hearing loss; hearing impairment|Hearing Loss Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007605;sensory perception of sound;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA http://www.genecards.org/index.php?path=/Search/keyword/TECTA https://www.uniprot.org/uniprot/O75443 https://hpo.jax.org/app/browse/search?q=TECTA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602574 http://www.informatics.jax.org/searchtool/Search.do?query=TECTA&submit=Quick%0D%3902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECTA rs10502247 0.310304 0.2574 0.3087 1 0 0 exonic exonic exonic TECTA TECTA ENSG00000109927 synonymous SNV synonymous SNV unknown TECTA:NM_005422:exon8:c.C2256T:p.I752I, TECTA:uc010rzo.2:exon8:c.C2256T:p.I752I, UNKNOWN Het;C>T 1643;68|68 Het;C>T 1995;84|92 Hom;C>T 4092;6|157 N N - 11 121033105 121033105 A G snp intronic TECTA Tecta ENSG00000109927 tectorin alpha chr11:120971882-121062202 The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Hip; autosomal dominant hearing loss; hearing impairment|Hearing Loss Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007605;sensory perception of sound;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA http://www.genecards.org/index.php?path=/Search/keyword/TECTA https://www.uniprot.org/uniprot/O75443 https://hpo.jax.org/app/browse/search?q=TECTA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602574 http://www.informatics.jax.org/searchtool/Search.do?query=TECTA&submit=Quick%0D%3902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECTA rs662496 0.507588 0.4774 0.4100 1 0 0 intronic intronic intronic TECTA TECTA ENSG00000109927 Na Na Na Na Na Na Het;A>G 1207;23|46 Het;A>G 919;21|32 Hom;A>G 1261;0|41 N N - 11 121035860 121035860 G T snp intronic TECTA Tecta ENSG00000109927 tectorin alpha chr11:120971882-121062202 The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Hip; autosomal dominant hearing loss; hearing impairment|Hearing Loss Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007605;sensory perception of sound;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA http://www.genecards.org/index.php?path=/Search/keyword/TECTA https://www.uniprot.org/uniprot/O75443 https://hpo.jax.org/app/browse/search?q=TECTA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602574 http://www.informatics.jax.org/searchtool/Search.do?query=TECTA&submit=Quick%0D%3902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECTA rs546916 0.441094 0 0 1 0 0 intronic intronic intronic TECTA TECTA ENSG00000109927 Na Na Na Na Na Na Het;G>T 323;7|11 Het;G>T 356;6|11 Hom;G>T 528;0|15 N N - 11 121038810 121038810 C T snp synonymous SNV C5634T S1878S polar,hydrophilic,neutral polar,hydrophilic,neutral TECTA Tecta ENSG00000109927 tectorin alpha chr11:120971882-121062202 The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Hip; autosomal dominant hearing loss; hearing impairment|Hearing Loss Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007605;sensory perception of sound;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA http://www.genecards.org/index.php?path=/Search/keyword/TECTA https://www.uniprot.org/uniprot/O75443 https://hpo.jax.org/app/browse/search?q=TECTA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602574 http://www.informatics.jax.org/searchtool/Search.do?query=TECTA&submit=Quick%0D%3902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECTA rs2155369 0.185304 0.0988 0.1690 1 0 0 exonic exonic exonic TECTA TECTA ENSG00000109927 synonymous SNV synonymous SNV unknown TECTA:NM_005422:exon18:c.C5634T:p.S1878S, TECTA:uc010rzo.2:exon18:c.C5634T:p.S1878S, UNKNOWN Het;C>T 901;66|43 Het;C>T 1620;62|76 Hom;C>T 2360;2|92 N N - 11 121414550 121414550 G A snp intronic SORL1 Sorl1 ENSG00000137642 sortilin related receptor 1 chr11:121322912-121504402 This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016] Alzheimer's disease ; Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77); Waist Circumference; Alzheimer's disease; Cholesterol; Type 2 Diabetes| edema | rosiglitazone; Bipolar Disorder; Glomerular Filtration Rate; Hip; cognitive ability; Creatinine; null; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebrovascular Disorders|Hypertension; Neuropsychological Tests; Blood Pressure; Blood Pressure Determination Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain. Amyloid fiber formation GO:0000042;protein targeting to Golgi;IDA|GO:0006605;protein targeting;IDA|GO:0006622;protein targeting to lysosome;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;IDA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032460;negative regulation of protein oligomerization;IMP|GO:0043407;negative regulation of MAP kinase activity;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0045053;protein retention in Golgi apparatus;IDA|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051604;protein maturation;IDA|GO:0070863;positive regulation of protein exit from endoplasmic reticulum;IMP|GO:1901215;negative regulation of neuron death;IEA|GO:1902430;negative regulation of beta-amyloid formation;IDA|GO:1902771;positive regulation of choline O-acetyltransferase activity;IEA|GO:1902948;negative regulation of tau-protein kinase activity;IEA|GO:1902953;positive regulation of ER to Golgi vesicle-mediated transport;IMP|GO:1902955;positive regulation of early endosome to recycling endosome transport;IMP|GO:1902960;negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process;IDA|GO:1902963;negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process;IMP|GO:1902966;positive regulation of protein localization to early endosome;IMP|GO:1902997;negative regulation of neurofibrillary tangle assembly;IEA|GO:2001137;positive regulation of endocytic recycling;IMP GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005641;nuclear envelope lumen;IDA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031985;Golgi cisterna;IDA|GO:0034362;low-density lipoprotein particle;IEA|GO:0055037;recycling endosome;IMP|GO:0070062;extracellular exosome;IDA GO:0001540;beta-amyloid binding;IDA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SORL1 https://www.uniprot.org/uniprot/Q92673 https://hpo.jax.org/app/browse/search?q=SORL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602005 http://www.informatics.jax.org/searchtool/Search.do?query=SORL1&submit=Quick%0D%7571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORL1 rs682021 0.449081 0 0 1 0 0 intronic intronic intronic SORL1 SORL1 ENSG00000137642 Na Na Na Na Na Na Het;G>A 291;13|10 Het;G>A 127;8|5 Hom;G>A 320;0|10 N N - 11 122027609 122027609 A C snp ncRNA_intronic MIR100HG rs151022510 0.467452 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MIR100HG MIR100HG ENSG00000255090 Na Na Na Na Na Na Het;A>C 272;6|8 Het;A>C 356;12|9 Hom;A>C 1322;0|27 N N - 11 122051041 122051041 T C snp ncRNA_intronic MIR100HG rs601774 0.583866 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MIR100HG MIR100HG ENSG00000255090 Na Na Na Na Na Na Het;T>C 51;13|3 Het;T>C 243;21|13 Hom;T>C 1137;0|39 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12241626 12241626 A G snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs7101833 0.660942 0 0 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;A>G 254;8|8 Het;A>G 120;5|4 Hom;A>G 269;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12242030 12242030 A G snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs4237704 0.451278 0.2619 0.3268 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;A>G 1779;68|70 Het;A>G 1362;49|54 Hom;A>G 3098;0|107 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12246204 12246204 G A snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs78986346 0.274361 0.1030 0.2325 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;G>A 1914;76|82 Het;G>A 1607;72|67 Hom;G>A 4052;1|145 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12246233 12246233 G C snp synonymous SNV G1554C R518R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs3816921 0.274561 0.1032 0.2312 1 0 0 exonic exonic exonic MICAL2 MICAL2 ENSG00000133816 synonymous SNV synonymous SNV unknown MICAL2:NM_014632:exon13:c.G1554C:p.R518R,MICAL2:NM_001282663:exon13:c.G1554C:p.R518R,MICAL2:NM_001282665:exon12:c.G1554C:p.R518R,MICAL2:NM_001282666:exon11:c.G1554C:p.R518R,MICAL2:NM_001282667:exon11:c.G1554C:p.R518R,MICAL2:NM_001282664:exon12:c.G1554C:p.R518R, MICAL2:uc001mka.3:exon13:c.G1554C:p.R518R,MICAL2:uc010rch.1:exon13:c.G1554C:p.R518R,MICAL2:uc001mkc.3:exon11:c.G1554C:p.R518R,MICAL2:uc001mkb.3:exon11:c.G1554C:p.R518R,MICAL2:uc001mkd.3:exon9:c.G1041C:p.R347R,MICAL2:uc010rci.2:exon12:c.G1554C:p.R518R,MICAL2:uc001mjz.3:exon13:c.G1554C:p.R518R, UNKNOWN Het;G>C 3195;111|133 Het;G>C 2258;103|94 Hom;G>C 5668;2|202 N N - 11 122489595 122489595 G A snp ncRNA_exonic AP002469.2 rs1308 0.517372 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR100HG(dist=415825),UBASH3B(dist=36803) TRNA_Lys(dist=58868),UBASH3B(dist=36803) ENSG00000254935 Na Na Na Na Na Na Het;G>A 915;31|41 Het;G>A 667;31|33 Hom;G>A 1590;0|58 N N - 11 122490000 122490000 T C snp downstream AP002469.2 rs4489754 0.509984 0 0 1 0 0 intergenic intergenic downstream MIR100HG(dist=416230),UBASH3B(dist=36398) TRNA_Lys(dist=59273),UBASH3B(dist=36398) ENSG00000254935 Na Na Na Na Na Na Het;T>C 394;32|22 Het;T>C 411;12|19 Hom;T>C 1142;0|41 N N - 11 122576973 122576973 G A snp intronic UBASH3B Ubash3b ENSG00000154127 ubiquitin associated and SH3 domain containing B chr11:122526383-122685181 This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008] Behcets disease; Stroke; Waist Circumference; Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77); P-Selectin Mice homozygous for a knock-out allele are viable, fertile, developmentally normal, and do not display any obvious phenotypic abnormalities. GO:0006469;negative regulation of protein kinase activity;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0030168;platelet activation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0038065;collagen-activated signaling pathway;IEA|GO:0043393;regulation of protein binding;IEA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045779;negative regulation of bone resorption;IEA|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IEA|GO:0070527;platelet aggregation;IEA|GO:0090331;negative regulation of platelet aggregation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0051219;phosphoprotein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UBASH3B https://www.uniprot.org/uniprot/Q8TF42 https://www.ncbi.nlm.nih.gov/omim/?term=609201 http://www.informatics.jax.org/searchtool/Search.do?query=UBASH3B&submit=Quick%0D%9730ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBASH3B rs7939482 0.773363 0 0 1 0 0 intronic intronic intronic UBASH3B UBASH3B ENSG00000154127 Na Na Na Na Na Na Het;G>A 338;21|16 Het;G>A 605;39|30 Hom;G>A 1426;0|55 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12263665 12263665 A G snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs2403615 0.206869 0 0 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;A>G 101;1|4 Het;A>G 99;1|4 Hom;A>G 95;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12265542 12265542 A G snp synonymous SNV A2667G L889L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs2270511 0.209065 0.1626 0.1867 1 0 0 exonic exonic exonic MICAL2 MICAL2 ENSG00000133816 synonymous SNV synonymous SNV unknown MICAL2:NM_014632:exon21:c.A2667G:p.L889L,MICAL2:NM_001282663:exon21:c.A2667G:p.L889L,MICAL2:NM_001282664:exon20:c.A2667G:p.L889L, MICAL2:uc001mka.3:exon21:c.A2667G:p.L889L,MICAL2:uc010rci.2:exon20:c.A2667G:p.L889L,MICAL2:uc001mjz.3:exon21:c.A2667G:p.L889L, UNKNOWN Het;A>G 357;32|17 Het;A>G 577;33|24 Hom;A>G 2058;0|72 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12265688 12265688 T C snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs2270512 0.199281 0.1535 0.1841 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;T>C 700;51|37 Het;T>C 1014;54|50 Hom;T>C 2591;0|92 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12279937 12279937 T C snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs2270513 0.400759 0 0 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;T>C 236;4|7 Het;T>C 78;4|3 Hom;T>C 143;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12279991 12279991 G C snp intronic MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs11022265 0.217452 0.2238 0.2327 1 0 0 intronic intronic intronic MICAL2 MICAL2 ENSG00000133816 Na Na Na Na Na Na Het;G>C 463;17|23 Het;G>C 196;14|9 Hom;G>C 617;0|22 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12283928 12283928 C T snp UTR3 *2209C>T MICAL2 Mical2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 rs10765933 0.239217 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic MICAL2(NM_001282666:c.*2209C>T,NM_001282667:c.*2209C>T) MICAL2(uc001mkb.3:c.*2209C>T,uc001mkc.3:c.*2209C>T,uc001mkd.3:c.*2209C>T,uc010rcj.2:c.*2209C>T) ENSG00000254680 Na Na Na Na Na Na Het;C>T 286;13|12 Het;C>T 214;6|7 Hom;C>T 350;0|10 N N - 11 123006617 123006617 C T snp intronic CLMP Clmp ENSG00000166250 CXADR like membrane protein chr11:122943035-123065989 This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015] Bipolar Disorder; Leukocyte Count; Lymphoma, Follicular; Body Weight; Waist Circumference; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease Mice homozygous for a targeted null allele exhibit reduced viability, bilateral hydronephrosis, increased mean systolic blood pressure, and exhibit several blood chemistry and neurological anomalies. Null mice are samller than controls. GO:0048565;digestive tract development;IMP GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLMP https://hpo.jax.org/app/browse/search?q=CLMP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611693 http://www.informatics.jax.org/searchtool/Search.do?query=CLMP&submit=Quick%0D%11738ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLMP rs11219013 0.251997 0 0 1 0 0 intronic intronic intronic CLMP CLMP ENSG00000166250 Na Na Na Na Na Na Het;C>T 56;14|3 Het;C>T 225;9|7 Hom;C>T 786;0|17 N N - 11 123006624 123006624 G T snp intronic CLMP Clmp ENSG00000166250 CXADR like membrane protein chr11:122943035-123065989 This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015] Bipolar Disorder; Leukocyte Count; Lymphoma, Follicular; Body Weight; Waist Circumference; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease Mice homozygous for a targeted null allele exhibit reduced viability, bilateral hydronephrosis, increased mean systolic blood pressure, and exhibit several blood chemistry and neurological anomalies. Null mice are samller than controls. GO:0048565;digestive tract development;IMP GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLMP https://hpo.jax.org/app/browse/search?q=CLMP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611693 http://www.informatics.jax.org/searchtool/Search.do?query=CLMP&submit=Quick%0D%11738ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLMP rs11219014 0.251997 0 0 1 0 0 intronic intronic intronic CLMP CLMP ENSG00000166250 Na Na Na Na Na Na Het;G>T 56;14|3 Het;G>T 260;10|8 Hom;G>T 824;0|20 N N - 11 123017181 123017181 C A snp intronic CLMP Clmp ENSG00000166250 CXADR like membrane protein chr11:122943035-123065989 This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015] Bipolar Disorder; Leukocyte Count; Lymphoma, Follicular; Body Weight; Waist Circumference; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease Mice homozygous for a targeted null allele exhibit reduced viability, bilateral hydronephrosis, increased mean systolic blood pressure, and exhibit several blood chemistry and neurological anomalies. Null mice are samller than controls. GO:0048565;digestive tract development;IMP GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLMP https://hpo.jax.org/app/browse/search?q=CLMP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611693 http://www.informatics.jax.org/searchtool/Search.do?query=CLMP&submit=Quick%0D%11738ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLMP rs7924892 0.364617 0 0 1 0 0 intronic intronic intronic CLMP CLMP ENSG00000166250 Na Na Na Na Na Na Het;C>A 236;22|13 Het;C>A 327;24|17 Hom;C>A 1228;0|48 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12315186 12315186 G A snp nonsynonymous SNV G208A V70I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MICALCL Micalcl ENSG00000133808 MICAL C-terminal like chr11:12297627-12380691 Tobacco Use Disorder; Electrocardiography; Alcoholism GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICALCL https://www.uniprot.org/uniprot/Q6ZW33 https://www.ncbi.nlm.nih.gov/omim/?term=612355 http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL rs10741578 0.533746 0.4243 0.4419 0.08 1 13 exonic exonic exonic MICALCL MICALCL ENSG00000133808 nonsynonymous SNV nonsynonymous SNV unknown MICALCL:NM_032867:exon3:c.G208A:p.V70I, MICALCL:uc001mkg.1:exon3:c.G208A:p.V70I, UNKNOWN Het;G>A 1845;91|81 Het;G>A 1541;83|76 Hom;G>A 4723;0|175 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12315848 12315848 C T snp synonymous SNV C870T G290G aliphatic,neutral aliphatic,neutral MICALCL Micalcl ENSG00000133808 MICAL C-terminal like chr11:12297627-12380691 Tobacco Use Disorder; Electrocardiography; Alcoholism GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICALCL https://www.uniprot.org/uniprot/Q6ZW33 https://www.ncbi.nlm.nih.gov/omim/?term=612355 http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL rs1493952 0 0.3818 0.3809 1 0 0 exonic exonic exonic MICALCL MICALCL ENSG00000133808 synonymous SNV synonymous SNV unknown MICALCL:NM_032867:exon3:c.C870T:p.G290G, MICALCL:uc001mkg.1:exon3:c.C870T:p.G290G, UNKNOWN Het;C>T 2602;141|115 Het;C>T 2408;103|108 Hom;C>T 5132;0|187 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12315915 12315915 A G snp nonsynonymous SNV A937G S313G polar,hydrophilic,neutral aliphatic,neutral MICALCL Micalcl ENSG00000133808 MICAL C-terminal like chr11:12297627-12380691 Tobacco Use Disorder; Electrocardiography; Alcoholism GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICALCL https://www.uniprot.org/uniprot/Q6ZW33 https://www.ncbi.nlm.nih.gov/omim/?term=612355 http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL rs1493954 0.53095 0.4030 0.4160 0.38 5 13 exonic exonic exonic MICALCL MICALCL ENSG00000133808 nonsynonymous SNV nonsynonymous SNV unknown MICALCL:NM_032867:exon3:c.A937G:p.S313G, MICALCL:uc001mkg.1:exon3:c.A937G:p.S313G, UNKNOWN Het;A>G 2130;96|89 Het;A>G 1517;105|69 Hom;A>G 4194;0|136 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12316344 12316344 G GCTC indel nonframeshift substitution 1366_1366delinsGCTC MICALCL Micalcl ENSG00000133808 MICAL C-terminal like chr11:12297627-12380691 Tobacco Use Disorder; Electrocardiography; Alcoholism GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICALCL https://www.uniprot.org/uniprot/Q6ZW33 https://www.ncbi.nlm.nih.gov/omim/?term=612355 http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL rs767104379 0 0.1585 0.0034 1 0 0 exonic exonic exonic MICALCL MICALCL ENSG00000133808 nonframeshift substitution nonframeshift substitution unknown MICALCL:NM_032867:exon3:c.1366_1366delinsGCTC, MICALCL:uc001mkg.1:exon3:c.1366_1366delinsGCTC, UNKNOWN Het;+CTC 263;11|9 Het;+CTC 131;15|6 Hom;+CTC 607;2|16 N N - 11 123597804 123597804 A G snp intronic ZNF202 Zfp202 ENSG00000166261 zinc finger protein 202 chr11:123594885-123612383 Atherosclerosis|Myocardial Ischemia; cholesterol, HDL; response to antipsychotic therapy (extrapyramidal side effects); Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Coronary Disease; Stomach Neoplasms; null; Diabetic Nephropathies Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF202 https://www.ncbi.nlm.nih.gov/omim/?term=603430 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF202&submit=Quick%0D%11741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF202 rs679597 0.661542 0 0 1 0 0 intronic intronic intronic ZNF202 ZNF202 ENSG00000166261 Na Na Na Na Na Na Het;A>G 138;9|6 Het;A>G 65;5|3 Hom;A>G 165;0|5 N N - 11 123599044 123599044 T C snp intronic ZNF202 Zfp202 ENSG00000166261 zinc finger protein 202 chr11:123594885-123612383 Atherosclerosis|Myocardial Ischemia; cholesterol, HDL; response to antipsychotic therapy (extrapyramidal side effects); Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Coronary Disease; Stomach Neoplasms; null; Diabetic Nephropathies Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF202 https://www.ncbi.nlm.nih.gov/omim/?term=603430 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF202&submit=Quick%0D%11741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF202 rs675172 0.406749 0 0 1 0 0 intronic intronic intronic ZNF202 ZNF202 ENSG00000166261 Na Na Na Na Na Na Het;T>C 753;39|32 Het;T>C 644;27|27 Hom;T>C 1726;0|59 N N - 11 123600247 123600258 GGAGAAATGTCC G indel intronic ZNF202 Zfp202 ENSG00000166261 zinc finger protein 202 chr11:123594885-123612383 Atherosclerosis|Myocardial Ischemia; cholesterol, HDL; response to antipsychotic therapy (extrapyramidal side effects); Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Coronary Disease; Stomach Neoplasms; null; Diabetic Nephropathies Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF202 https://www.ncbi.nlm.nih.gov/omim/?term=603430 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF202&submit=Quick%0D%11741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF202 rs6144548 0.464058 0 0 1 0 0 intronic intronic intronic ZNF202 ZNF202 ENSG00000166261 Na Na Na Na Na Na Het;-GAGAAATGTCC 443;22|13 Het;-GAGAAATGTCC 47;14|3 Hom;-GAGAAATGTCC 1224;0|28 N N - 11 123600475 123600475 A G snp nonsynonymous SNV T461C V154A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF202 Zfp202 ENSG00000166261 zinc finger protein 202 chr11:123594885-123612383 Atherosclerosis|Myocardial Ischemia; cholesterol, HDL; response to antipsychotic therapy (extrapyramidal side effects); Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Coronary Disease; Stomach Neoplasms; null; Diabetic Nephropathies Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF202 https://www.ncbi.nlm.nih.gov/omim/?term=603430 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF202&submit=Quick%0D%11741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF202 rs1144507 0.665335 0.7154 0.6885 0.08 1 13 exonic exonic exonic ZNF202 ZNF202 ENSG00000166261 nonsynonymous SNV nonsynonymous SNV unknown ZNF202:NM_001301780:exon3:c.T461C:p.V154A,ZNF202:NM_003455:exon5:c.T461C:p.V154A,ZNF202:NM_001301779:exon4:c.T461C:p.V154A, ZNF202:uc001pzd.1:exon5:c.T461C:p.V154A,ZNF202:uc001pzf.1:exon3:c.T461C:p.V154A,ZNF202:uc001pze.1:exon4:c.T461C:p.V154A, UNKNOWN Het;A>G 983;61|46 Het;A>G 688;40|34 Hom;A>G 2593;0|91 N N - 11 124493199 124493199 C A snp nonsynonymous SNV C220A P74T hydrophobic,neutral polar,hydrophilic,neutral TBRG1 Tbrg1 ENSG00000154144 transforming growth factor beta regulator 1 chr11:124492732-124505287 Mice homozygous for a hypomorphic allele exhibit increased embryonic survival and increased tumor incidence including B cell lymphoma. GO:0006260;DNA replication;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0032066;nucleolus to nucleoplasm transport;IDA|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TBRG1 https://www.uniprot.org/uniprot/Q3YBR2 https://www.ncbi.nlm.nih.gov/omim/?term=610614 http://www.informatics.jax.org/searchtool/Search.do?query=TBRG1&submit=Quick%0D%9734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBRG1 rs678132 0.165935 0 0.1633 1 0 0 intronic exonic intronic TBRG1 TBRG1 ENSG00000154144 Na nonsynonymous SNV Na Na TBRG1:uc001qai.2:exon1:c.C220A:p.P74T, Na Het;C>A 237;17|13 Ref Hom;C>A 569;0|19 N N - 11 124861269 124861269 C T snp intronic CCDC15 Ccdc15 ENSG00000149548 coiled-coil domain containing 15 chr11:124824017-124911385 Tobacco Use Disorder GO:0005813;centrosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCDC15 https://www.uniprot.org/uniprot/Q0P6D6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC15&submit=Quick%0D%9250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC15 rs4936967 0.413139 0 0 1 0 0 intronic intronic intronic CCDC15 CCDC15 ENSG00000149548 Na Na Na Na Na Na Het;C>T 270;16|10 Ref Hom;C>T 413;0|13 N N - 11 124862995 124862995 G C snp intronic CCDC15 Ccdc15 ENSG00000149548 coiled-coil domain containing 15 chr11:124824017-124911385 Tobacco Use Disorder GO:0005813;centrosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCDC15 https://www.uniprot.org/uniprot/Q0P6D6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC15&submit=Quick%0D%9250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC15 rs11605636 0.192492 0 0 1 0 0 intronic intronic intronic CCDC15 CCDC15 ENSG00000149548 Na Na Na Na Na Na Het;G>C 211;12|9 Ref Hom;G>C 791;0|27 N N - 11 124910797 124910797 T C snp UTR3 *190T>C CCDC15 Ccdc15 ENSG00000149548 coiled-coil domain containing 15 chr11:124824017-124911385 Tobacco Use Disorder GO:0005813;centrosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCDC15 https://www.uniprot.org/uniprot/Q0P6D6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC15&submit=Quick%0D%9250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC15 rs11219874 0.192492 0 0 1 0 0 UTR3 UTR3 UTR3 CCDC15(NM_025004:c.*190T>C) CCDC15(uc001qbm.4:c.*190T>C) ENSG00000149548(ENST00000344762:c.*190T>C,ENST00000529051:c.*190T>C) Na Na Na Na Na Na Het;T>C 122;3|5 Ref Hom;T>C 138;0|4 N N - 11 124951467 124951467 C G snp intronic SLC37A2 Slc37a2 ENSG00000134955 solute carrier family 37 member 2 chr11:124932963-124959131 Gluconeogenesis GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2 https://www.uniprot.org/uniprot/Q8TED4 http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2 rs4396301 0.609026 0 0 1 0 0 intronic intronic intronic SLC37A2 SLC37A2 ENSG00000134955 Na Na Na Na Na Na Het;C>G 243;6|9 Ref Hom;C>G 257;0|9 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12495607 12495607 T C snp intronic PARVA Parva ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA rs2288291 0.543331 0 0 1 0 0 intronic intronic intronic PARVA PARVA ENSG00000197702 Na Na Na Na Na Na Het;T>C 392;9|13 Het;T>C 348;9|12 Hom;T>C 533;0|15 N N - 11 124956298 124956298 C T snp intronic SLC37A2 Slc37a2 ENSG00000134955 solute carrier family 37 member 2 chr11:124932963-124959131 Gluconeogenesis GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2 https://www.uniprot.org/uniprot/Q8TED4 http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2 rs3808996 0.179912 0 0 1 0 0 intronic intronic intronic SLC37A2 SLC37A2 ENSG00000134955 Na Na Na Na Na Na Het;C>T 102;5|5 Ref Hom;C>T 231;0|7 N N - 11 124964542 124964543 CA C indel UTR3 *2960_*2959delinsG TMEM218 Tmem218 ENSG00000150433 transmembrane protein 218 chr11:124966398-124981659 Alcoholism Homozygous null mice show progressive cystic kidney disease and retinal degeneration. GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM218 https://www.uniprot.org/uniprot/A2RU14 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM218&submit=Quick%0D%9316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM218 rs3831396 0.561302 0 0 1 0 0 UTR3 UTR3 intergenic TMEM218(NM_001258239:c.*2960_*2959delinsG,NM_001258238:c.*2960_*2959delinsG,NM_001258246:c.*2960_*2959delinsG,NM_001258245:c.*2960_*2959delinsG,NM_001258244:c.*2960_*2959delinsG,NM_001080546:c.*2960_*2959delinsG,NM_001258247:c.*2960_*2959delinsG,NM_001258243:c.*2960_*2959delinsG,NM_001258242:c.*2960_*2959delinsG,NM_001258241:c.*2960_*2959delinsG,NM_001258240:c.*2960_*2959delinsG) TMEM218(uc031qeq.1:c.*2960_*2959delinsG,uc031qet.1:c.*2960_*2959delinsG,uc010sax.3:c.*2960_*2959delinsG,uc031qeu.1:c.*3010_*3009delinsG,uc031qev.1:c.*2960_*2959delinsG,uc001qbt.4:c.*2960_*2959delinsG,uc010saw.3:c.*2960_*2959delinsG,uc031qex.1:c.*2960_*2959delinsG,uc031qey.1:c.*2960_*2959delinsG,uc031qfb.1:c.*2960_*2959delinsG,uc031qfc.1:c.*2960_*2959delinsG,uc031qfd.1:c.*2960_*2959delinsG) ENSG00000203306(dist=4131),ENSG00000150433(dist=1855) Na Na Na Na Na Na Het;-A 1088;61|35 Ref Hom;-A 4640;0|117 N N - 11 124964757 124964757 C G snp UTR3 *2745G>C TMEM218 Tmem218 ENSG00000150433 transmembrane protein 218 chr11:124966398-124981659 Alcoholism Homozygous null mice show progressive cystic kidney disease and retinal degeneration. GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM218 https://www.uniprot.org/uniprot/A2RU14 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM218&submit=Quick%0D%9316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM218 rs1048592 0.561302 0 0 1 0 0 UTR3 UTR3 intergenic TMEM218(NM_001258239:c.*2745G>C,NM_001258238:c.*2745G>C,NM_001258246:c.*2745G>C,NM_001258245:c.*2745G>C,NM_001258244:c.*2745G>C,NM_001080546:c.*2745G>C,NM_001258247:c.*2745G>C,NM_001258243:c.*2745G>C,NM_001258242:c.*2745G>C,NM_001258241:c.*2745G>C,NM_001258240:c.*2745G>C) TMEM218(uc031qeq.1:c.*2745G>C,uc031qet.1:c.*2745G>C,uc010sax.3:c.*2745G>C,uc031qeu.1:c.*2795G>C,uc031qev.1:c.*2745G>C,uc001qbt.4:c.*2745G>C,uc010saw.3:c.*2745G>C,uc031qex.1:c.*2745G>C,uc031qey.1:c.*2745G>C,uc031qfb.1:c.*2745G>C,uc031qfc.1:c.*2745G>C,uc031qfd.1:c.*2745G>C) ENSG00000203306(dist=4346),ENSG00000150433(dist=1641) Na Na Na Na Na Na Het;C>G 1860;96|84 Ref Hom;C>G 5417;0|196 N N - 11 124965133 124965133 A T snp UTR3 *2369T>A TMEM218 Tmem218 ENSG00000150433 transmembrane protein 218 chr11:124966398-124981659 Alcoholism Homozygous null mice show progressive cystic kidney disease and retinal degeneration. GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM218 https://www.uniprot.org/uniprot/A2RU14 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM218&submit=Quick%0D%9316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM218 rs4935904 0.21226 0 0 1 0 0 UTR3 UTR3 intergenic TMEM218(NM_001258239:c.*2369T>A,NM_001258238:c.*2369T>A,NM_001258246:c.*2369T>A,NM_001258245:c.*2369T>A,NM_001258244:c.*2369T>A,NM_001080546:c.*2369T>A,NM_001258247:c.*2369T>A,NM_001258243:c.*2369T>A,NM_001258242:c.*2369T>A,NM_001258241:c.*2369T>A,NM_001258240:c.*2369T>A) TMEM218(uc031qeq.1:c.*2369T>A,uc031qet.1:c.*2369T>A,uc010sax.3:c.*2369T>A,uc031qeu.1:c.*2419T>A,uc031qev.1:c.*2369T>A,uc001qbt.4:c.*2369T>A,uc010saw.3:c.*2369T>A,uc031qex.1:c.*2369T>A,uc031qey.1:c.*2369T>A,uc031qfb.1:c.*2369T>A,uc031qfc.1:c.*2369T>A,uc031qfd.1:c.*2369T>A) ENSG00000203306(dist=4722),ENSG00000150433(dist=1265) Na Na Na Na Na Na Het;A>T 1446;57|62 Ref Hom;A>T 3839;0|136 N N - 11 124967487 124967487 T A snp UTR3 *15A>T TMEM218 Tmem218 ENSG00000150433 transmembrane protein 218 chr11:124966398-124981659 Alcoholism Homozygous null mice show progressive cystic kidney disease and retinal degeneration. GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM218 https://www.uniprot.org/uniprot/A2RU14 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM218&submit=Quick%0D%9316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM218 rs1043821 0.558506 0.5379 0.5039 1 0 0 UTR3 UTR3 UTR3 TMEM218(NM_001258239:c.*15A>T,NM_001258238:c.*15A>T,NM_001258246:c.*15A>T,NM_001258245:c.*15A>T,NM_001258244:c.*15A>T,NM_001080546:c.*15A>T,NM_001258247:c.*15A>T,NM_001258243:c.*15A>T,NM_001258242:c.*15A>T,NM_001258241:c.*15A>T,NM_001258240:c.*15A>T) TMEM218(uc031qeq.1:c.*15A>T,uc031qet.1:c.*15A>T,uc010sax.3:c.*15A>T,uc031qeu.1:c.*65A>T,uc031qev.1:c.*15A>T,uc001qbt.4:c.*15A>T,uc010saw.3:c.*15A>T,uc031qex.1:c.*15A>T,uc031qey.1:c.*15A>T,uc031qfb.1:c.*15A>T,uc031qfc.1:c.*15A>T,uc031qfd.1:c.*15A>T) ENSG00000150433(ENST00000455225:c.*15A>T,ENST00000531909:c.*15A>T,ENST00000528724:c.*15A>T,ENST00000532156:c.*178A>T,ENST00000279968:c.*15A>T,ENST00000532407:c.*15A>T,ENST00000526175:c.*15A>T,ENST00000527766:c.*15A>T,ENST00000529609:c.*178A>T,ENST00000529583:c.*15A>T,ENST00000527271:c.*15A>T) Na Na Na Na Na Na Het;T>A 1890;55|82 Ref Hom;T>A 3838;0|143 N N - 11 124967678 124967678 A G snp intronic TMEM218 Tmem218 ENSG00000150433 transmembrane protein 218 chr11:124966398-124981659 Alcoholism Homozygous null mice show progressive cystic kidney disease and retinal degeneration. GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM218 https://www.uniprot.org/uniprot/A2RU14 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM218&submit=Quick%0D%9316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM218 rs3737350 0.556909 0.5373 0.5101 1 0 0 intronic intronic intronic TMEM218 TMEM218 ENSG00000150433 Na Na Na Na Na Na Het;A>G 263;15|9 Ref Hom;A>G 801;1|27 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12517892 12517892 A AGAGTGCATGCATGCAT indel intronic PARVA Parva ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA rs138094049 0 0 0 1 0 0 intronic intronic intronic PARVA PARVA ENSG00000197702 Na Na Na Na Na Na Het;+GAGTGCATGCATGCAT 363;7|7 Ref Hom;+GAGTGCATGCATGCAT 436;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12518237 12518237 G T snp intronic PARVA Parva ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA rs12223547 0.360224 0 0 1 0 0 intronic intronic intronic PARVA PARVA ENSG00000197702 Na Na Na Na Na Na Het;G>T 332;43|17 Het;G>T 734;23|32 Hom;G>T 1321;0|47 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12532912 12532912 A C snp intronic PARVA Parva ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA rs12283539 0.562101 0 0 1 0 0 intronic intronic intronic PARVA PARVA ENSG00000197702 Na Na Na Na Na Na Het;A>C 79;1|3 Het;A>C 76;5|3 Hom;A>C 183;0|5 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12534707 12534707 G A snp unknown PARVA Parva ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA rs2243707 0.750799 0 0.7327 1 0 0 intronic intronic exonic PARVA PARVA ENSG00000197702 Na Na unknown Na Na UNKNOWN Het;G>A 200;5|7 Het;G>A 73;3|3 Hom;G>A 137;0|5 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 12535485 12535501 CACAGGCTCCTGCACTA C indel intronic PARVA Parva ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA rs56043920 0.524561 0 0 1 0 0 intronic intronic intronic PARVA PARVA ENSG00000197702 Na Na Na Na Na Na Het;-ACAGGCTCCTGCACTA 411;34|14 Het;-ACAGGCTCCTGCACTA 1049;16|27 Hom;-ACAGGCTCCTGCACTA 1259;0|29 N N - 11 125527164 125527164 A ATG indel intronic CHEK1 Chek1 ENSG00000149554 checkpoint kinase 1 chr11:125495036-125546150 The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] breast cancer; Colonic Neoplasms|DNA Damage|Microsatellite Instability; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms; bladder cancer; colorectal cancer; Chronic renal failure|Kidney Failure, Chronic; epithelial ovarian cancer ; chronic obstructive pulmonary disease; Adenocarcinoma|Pancreatic Neoplasms; esophageal adenocarcinoma; breast cancer ; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer ; lung cancer Mice homozygous for disruptions in this gene display ealy embryonic lethality, impaired cell cycle checkpoint function, increase in blastocyst apoptosis, and lack of inner cell mass proliferation. Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex GO:0000077;DNA damage checkpoint;IEA|GO:0000086;G2/M transition of mitotic cell cycle;IEA|GO:0001833;inner cell mass cell proliferation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006975;DNA damage induced protein phosphorylation;IDA|GO:0006997;nucleus organization;IEA|GO:0007049;cell cycle;IEA|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010569;regulation of double-strand break repair via homologous recombination;IDA|GO:0010767;regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage;IEA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IMP|GO:0035407;histone H3-T11 phosphorylation;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0042127;regulation of cell proliferation;IEA|GO:0045787;positive regulation of cell cycle;IDA|GO:0045839;negative regulation of mitotic nuclear division;IDA|GO:0046602;regulation of mitotic centrosome separation;IDA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0090399;replicative senescence;NAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902742;apoptotic process involved in development;IEA|GO:2000615;regulation of histone H3-K9 acetylation;IEA GO:0000781;chromosome, telomeric region;IDA|GO:0000785;chromatin;IEA|GO:0000794;condensed nuclear chromosome;IDA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005657;replication fork;IEA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0035402;histone kinase activity (H3-T11 specific);IEA http://www.genecards.org/index.php?path=/Search/keyword/CHEK1 https://www.uniprot.org/uniprot/O14757 https://www.ncbi.nlm.nih.gov/omim/?term=603078 http://www.informatics.jax.org/searchtool/Search.do?query=CHEK1&submit=Quick%0D%9251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHEK1 rs139922788 0 0 0 1 0 0 intronic intronic intronic CHEK1 CHEK1 ENSG00000149554 Na Na Na Na Na Na Het;+TG 245;8|9 Het;+TG 185;7|7 Hom;+TG 263;0|7 N N - 11 125778451 125778451 T A snp ncRNA_intronic AP000842.2 rs551365 0.154752 0 0 1 0 0 intronic intronic ncRNA_intronic DDX25 DDX25 ENSG00000255027 Na Na Na Na Na Na Het;T>A 625;48|19 Het;T>A 958;39|27 Hom;T>A 2630;0|61 N N - 11 125778453 125778453 G T snp ncRNA_intronic AP000842.2 rs551373 0.154752 0 0 1 0 0 intronic intronic ncRNA_intronic DDX25 DDX25 ENSG00000255027 Na Na Na Na Na Na Het;G>T 625;48|19 Het;G>T 958;39|25 Hom;G>T 2630;0|56 N N - 11 125791017 125791017 C T snp ncRNA_intronic AP000842.2 rs635819 0.214856 0 0 1 0 0 intronic intronic ncRNA_intronic DDX25 DDX25 ENSG00000255027 Na Na Na Na Na Na Het;C>T 165;8|8 Het;C>T 34;3|2 Hom;C>T 215;0|7 N N - 11 125871453 125871453 T C snp intronic CDON Cdon ENSG00000064309 cell adhesion associated, oncogene regulated chr11:125825691-125933230 This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] Tobacco Use Disorder Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning. Activation of SMO GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDON https://www.uniprot.org/uniprot/Q4KMG0 https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608707 http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON rs519375 0.302516 0 0 1 0 0 intronic intronic intronic CDON CDON ENSG00000064309 Na Na Na Na Na Na Het;T>C 153;2|5 Het;T>C 192;2|6 Hom;T>C 532;0|14 N N - 11 125871554 125871554 C A snp intronic CDON Cdon ENSG00000064309 cell adhesion associated, oncogene regulated chr11:125825691-125933230 This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] Tobacco Use Disorder Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning. Activation of SMO GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDON https://www.uniprot.org/uniprot/Q4KMG0 https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608707 http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON rs12274729 0.11222 0 0 1 0 0 intronic intronic intronic CDON CDON ENSG00000064309 Na Na Na Na Na Na Het;C>A 481;40|25 Het;C>A 808;22|34 Hom;C>A 1849;0|66 N N - 11 125871715 125871715 G A snp nonsynonymous SNV C2057T A686V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDON Cdon ENSG00000064309 cell adhesion associated, oncogene regulated chr11:125825691-125933230 This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] Tobacco Use Disorder Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning. Activation of SMO GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDON https://www.uniprot.org/uniprot/Q4KMG0 https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608707 http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON rs12274923 0.111222 0.1618 0.1631 0.38 5 13 exonic exonic exonic CDON CDON ENSG00000064309 nonsynonymous SNV nonsynonymous SNV unknown CDON:NM_016952:exon11:c.C2057T:p.A686V,CDON:NM_001243597:exon11:c.C2057T:p.A686V, CDON:uc009zbw.3:exon11:c.C2057T:p.A686V,CDON:uc001qdc.4:exon11:c.C2057T:p.A686V,CDON:uc001qdb.4:exon2:c.C188T:p.A63V, UNKNOWN Het;G>A 400;14|19 Het;G>A 449;14|18 Hom;G>A 765;0|26 N N - 11 125871735 125871735 C T snp synonymous SNV G2037A A679A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDON Cdon ENSG00000064309 cell adhesion associated, oncogene regulated chr11:125825691-125933230 This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] Tobacco Use Disorder Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning. Activation of SMO GO:0001708;cell fate specification;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007155;cell adhesion;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0007520;myoblast fusion;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010172;embryonic body morphogenesis;IEA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043497;regulation of protein heterodimerization activity;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048643;positive regulation of skeletal muscle tissue development;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060059;embryonic retina morphogenesis in camera-type eye;IEA|GO:2000179;positive regulation of neural precursor cell proliferation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDON https://www.uniprot.org/uniprot/Q4KMG0 https://hpo.jax.org/app/browse/search?q=CDON&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608707 http://www.informatics.jax.org/searchtool/Search.do?query=CDON&submit=Quick%0D%1127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDON rs516664 0.302516 0.3454 0.3127 1 0 0 exonic exonic exonic CDON CDON ENSG00000064309 synonymous SNV synonymous SNV unknown CDON:NM_016952:exon11:c.G2037A:p.A679A,CDON:NM_001243597:exon11:c.G2037A:p.A679A, CDON:uc009zbw.3:exon11:c.G2037A:p.A679A,CDON:uc001qdc.4:exon11:c.G2037A:p.A679A,CDON:uc001qdb.4:exon2:c.G168A:p.A56A, UNKNOWN Het;C>T 252;10|9 Het;C>T 305;10|10 Hom;C>T 573;0|18 N N - 11 126145931 126145931 T C snp intronic FOXRED1 Foxred1 ENSG00000110074 FAD dependent oxidoreductase domain containing 1 chr11:126138950-126148026 This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression GO:0008150;biological_process;ND|GO:0032981;mitochondrial respiratory chain complex I assembly;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FOXRED1 https://www.uniprot.org/uniprot/Q96CU9 https://hpo.jax.org/app/browse/search?q=FOXRED1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613622 http://www.informatics.jax.org/searchtool/Search.do?query=FOXRED1&submit=Quick%0D%3922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXRED1 rs2276025 0.316094 0.2905 0.3172 1 0 0 intronic intronic intronic FOXRED1 FOXRED1 ENSG00000110074 Na Na Na Na Na Na Het;T>C 586;28|24 Ref Hom;T>C 494;0|17 N N - 11 126316610 126316610 C T snp intronic KIRREL3 Kirrel3 ENSG00000149571 kirre like nephrin family adhesion molecule 3 chr11:126293254-126873355 The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Heart Failure; Attention Deficit and Disruptive Behavior Disorders; Tobacco Use Disorder; Clozapine; Hair Color; Attention deficit hyperactivity disorder and conduct disorder; Stroke; Insulin-Like Growth Factor I; Magnesium; protein quantitative trait loci Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. Nephrin family interactions GO:0001764;neuron migration;IEA|GO:0002121;inter-male aggressive behavior;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0021740;principal sensory nucleus of trigeminal nerve development;IEA|GO:0021766;hippocampus development;IEA|GO:0030097;hemopoiesis;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0072102;glomerulus morphogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043198;dendritic shaft;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIRREL3 https://www.uniprot.org/uniprot/Q8IZU9 https://www.ncbi.nlm.nih.gov/omim/?term=607761 http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL3&submit=Quick%0D%9254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL3 rs1574534 0.418331 0.6046 0.5671 1 0 0 intronic intronic intronic KIRREL3 KIRREL3 ENSG00000149571 Na Na Na Na Na Na Het;C>T 761;24|30 Ref Hom;C>T 798;0|24 N N - 11 126396674 126396674 G A snp intronic KIRREL3 Kirrel3 ENSG00000149571 kirre like nephrin family adhesion molecule 3 chr11:126293254-126873355 The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Heart Failure; Attention Deficit and Disruptive Behavior Disorders; Tobacco Use Disorder; Clozapine; Hair Color; Attention deficit hyperactivity disorder and conduct disorder; Stroke; Insulin-Like Growth Factor I; Magnesium; protein quantitative trait loci Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. Nephrin family interactions GO:0001764;neuron migration;IEA|GO:0002121;inter-male aggressive behavior;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0021740;principal sensory nucleus of trigeminal nerve development;IEA|GO:0021766;hippocampus development;IEA|GO:0030097;hemopoiesis;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0072102;glomerulus morphogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043198;dendritic shaft;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIRREL3 https://www.uniprot.org/uniprot/Q8IZU9 https://www.ncbi.nlm.nih.gov/omim/?term=607761 http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL3&submit=Quick%0D%9254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL3 rs674537 0.631789 0 0 1 0 0 intronic intronic intronic KIRREL3 KIRREL3 ENSG00000149571 Na Na Na Na Na Na Het;G>A 627;18|23 Het;G>A 494;10|21 Hom;G>A 660;0|21 N N - 11 126526181 126526181 A G snp ncRNA_intronic DJ031150 rs523249 0.834065 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929427 DJ031150 ENSG00000254607 Na Na Na Na Na Na Het;A>G 345;5|11 Het;A>G 173;9|6 Hom;A>G 409;0|11 N N - 11 127206995 127206995 G C snp downstream AP003481.1 rs2592905 0.876198 0 0 1 0 0 downstream downstream downstream LOC101929497 BC030092 ENSG00000273409 Na Na Na Na Na Na Het;G>C 225;16|11 Het;G>C 120;6|6 Hom;G>C 638;0|22 N N - 11 127957037 127957037 A C snp intergenic LOC101929497 rs7935537 0.690695 0 0 1 0 0 intergenic intergenic intergenic LOC101929497(dist=750109),ETS1(dist=371619) 7SK(dist=680810),ETS1(dist=371619) ENSG00000254612(dist=145488),ENSG00000273415(dist=93285) Na Na Na Na Na Na Het;A>C 139;10|8 Ref Hom;A>C 305;0|12 N N - 11 128055860 128055860 T A snp intergenic LOC101929497 rs1215889 0.163538 0 0 1 0 0 intergenic intergenic intergenic LOC101929497(dist=848932),ETS1(dist=272796) 7SK(dist=779633),ETS1(dist=272796) ENSG00000273415(dist=2411),ENSG00000272575(dist=22864) Na Na Na Na Na Na Het;T>A 623;31|30 Ref Hom;T>A 1300;0|45 N N - 11 128355859 128355859 T C snp intronic ETS1 Ets1 ENSG00000134954 ETS proto-oncogene 1, transcription factor chr11:128328656-128457453 This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] diabetes, type 1; Magnesium; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; systemic lupus erythematosus; Arthritis, Rheumatoid; Celiac Disease; Celiac disease; systemic lupus erythematosus ; Lupus Erythematosus, Systemic Homozygotes for targeted null mutations exhibit reduced numbers of peripheral CD8+ T cells, impaired TCR-mediated activation of both CD4+ and CD8+ T cells, increased numbers of IgM-secreting plasma cells, and severely impaired NK cell development. Oncogene Induced Senescence GO:0001666;response to hypoxia;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006955;immune response;TAS|GO:0007565;female pregnancy;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009611;response to wounding;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010715;regulation of extracellular matrix disassembly;IEA|GO:0021854;hypothalamus development;IEA|GO:0021983;pituitary gland development;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030578;PML body organization;IDA|GO:0032355;response to estradiol;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0044849;estrous cycle;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048870;cell motility;IMP|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050729;positive regulation of inflammatory response;IDA|GO:0051272;positive regulation of cellular component movement;IMP|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0061614;pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070555;response to interleukin-1;IEA|GO:1904996;positive regulation of leukocyte adhesion to vascular endothelial cell;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;NAS|GO:0035035;histone acetyltransferase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:1990837;sequence-specific double-stranded DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETS1 https://www.uniprot.org/uniprot/P14921 https://www.ncbi.nlm.nih.gov/omim/?term=164720 http://www.informatics.jax.org/searchtool/Search.do?query=ETS1&submit=Quick%0D%7060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETS1 rs1122832 0.132388 0 0 1 0 0 intronic intronic intronic ETS1 ETS1 ENSG00000134954 Na Na Na Na Na Na Het;T>C 334;6|12 Het;T>C 173;5|6 Hom;T>C 378;0|10 N N - 11 128493061 128493061 G C snp intergenic ETS1 Ets1 ENSG00000134954 ETS proto-oncogene 1, transcription factor chr11:128328656-128457453 This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] diabetes, type 1; Magnesium; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; systemic lupus erythematosus; Arthritis, Rheumatoid; Celiac Disease; Celiac disease; systemic lupus erythematosus ; Lupus Erythematosus, Systemic Homozygotes for targeted null mutations exhibit reduced numbers of peripheral CD8+ T cells, impaired TCR-mediated activation of both CD4+ and CD8+ T cells, increased numbers of IgM-secreting plasma cells, and severely impaired NK cell development. Oncogene Induced Senescence GO:0001666;response to hypoxia;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006955;immune response;TAS|GO:0007565;female pregnancy;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009611;response to wounding;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010715;regulation of extracellular matrix disassembly;IEA|GO:0021854;hypothalamus development;IEA|GO:0021983;pituitary gland development;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030578;PML body organization;IDA|GO:0032355;response to estradiol;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0044849;estrous cycle;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048870;cell motility;IMP|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050729;positive regulation of inflammatory response;IDA|GO:0051272;positive regulation of cellular component movement;IMP|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0061614;pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070555;response to interleukin-1;IEA|GO:1904996;positive regulation of leukocyte adhesion to vascular endothelial cell;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;NAS|GO:0035035;histone acetyltransferase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:1990837;sequence-specific double-stranded DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETS1 https://www.uniprot.org/uniprot/P14921 https://www.ncbi.nlm.nih.gov/omim/?term=164720 http://www.informatics.jax.org/searchtool/Search.do?query=ETS1&submit=Quick%0D%7060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETS1 rs4937363 0.853035 0 0 1 0 0 intergenic intergenic intergenic ETS1(dist=35608),FLI1(dist=63369) ETS1(dist=35608),AX747861(dist=58074) ENSG00000255465(dist=1360),ENSG00000245008(dist=6487) Na Na Na Na Na Na Het;G>C 709;43|34 Het;G>C 841;41|36 Hom;G>C 2382;0|92 N N - 11 128679211 128679211 G C snp intronic FLI1 Fli1 ENSG00000151702 Fli-1 proto-oncogene, ETS transcription factor chr11:128556430-128683162 This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Body Height; Ewing's sarcoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Tobacco Use Disorder; Body Mass Index; Stroke Mice homozygous for most knock-out allele exhibit abnormal hematopoietic and immune systems. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007599;hemostasis;TAS|GO:0008015;blood circulation;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0030154;cell differentiation;IBA|GO:0035855;megakaryocyte development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLI1 https://www.uniprot.org/uniprot/Q01543 https://hpo.jax.org/app/browse/search?q=FLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=193067 http://www.informatics.jax.org/searchtool/Search.do?query=FLI1&submit=Quick%0D%9459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLI1 rs630797 0.384385 0 0 1 0 0 intronic intronic intronic FLI1 FLI1 ENSG00000151702 Na Na Na Na Na Na Het;G>C 339;15|12 Ref Hom;G>C 694;0|19 N N - 11 128842243 128842243 A T snp UTR3 *1744T>A ARHGAP32 Arhgap32 ENSG00000134909 Rho GTPase activating protein 32 chr11:128834955-129149219 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease; Cholesterol, LDL Mice homozygous for a null mutation are fertile but display abnormal neurite growth. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0000139;Golgi membrane;IEA|GO:0001650;fibrillar center;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0010008;endosome membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP32 https://www.uniprot.org/uniprot/A7KAX9 https://www.ncbi.nlm.nih.gov/omim/?term=608541 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP32&submit=Quick%0D%7057ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP32 rs77561606 0.247604 0 0 1 0 0 intronic UTR3 UTR3 ARHGAP32 ARHGAP32(uc009zcq.2:c.*1744T>A) ENSG00000134909(ENST00000524655:c.*1744T>A) Na Na Na Na Na Na Het;A>T 122;6|4 Ref Hom;A>T 152;0|4 N N - 11 128842251 128842251 G T snp UTR3 *1736C>A ARHGAP32 Arhgap32 ENSG00000134909 Rho GTPase activating protein 32 chr11:128834955-129149219 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease; Cholesterol, LDL Mice homozygous for a null mutation are fertile but display abnormal neurite growth. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0000139;Golgi membrane;IEA|GO:0001650;fibrillar center;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0010008;endosome membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP32 https://www.uniprot.org/uniprot/A7KAX9 https://www.ncbi.nlm.nih.gov/omim/?term=608541 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP32&submit=Quick%0D%7057ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP32 rs76301868 0.247604 0 0 1 0 0 intronic UTR3 UTR3 ARHGAP32 ARHGAP32(uc009zcq.2:c.*1736C>A) ENSG00000134909(ENST00000524655:c.*1736C>A) Na Na Na Na Na Na Het;G>T 154;7|5 Ref Hom;G>T 187;0|5 N N - 11 128862342 128862342 C A snp intronic ARHGAP32 Arhgap32 ENSG00000134909 Rho GTPase activating protein 32 chr11:128834955-129149219 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease; Cholesterol, LDL Mice homozygous for a null mutation are fertile but display abnormal neurite growth. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0000139;Golgi membrane;IEA|GO:0001650;fibrillar center;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0010008;endosome membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP32 https://www.uniprot.org/uniprot/A7KAX9 https://www.ncbi.nlm.nih.gov/omim/?term=608541 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP32&submit=Quick%0D%7057ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP32 rs10893946 0.36222 0 0 1 0 0 intronic intronic intronic ARHGAP32 ARHGAP32 ENSG00000134909 Na Na Na Na Na Na Het;C>A 112;5|7 Ref Hom;C>A 145;0|8 N N - 11 129482010 129482010 G GT indel downstream LINC01395 rs34239132 0 0 0 1 0 0 downstream intergenic intergenic LINC01395 BARX2(dist=159836),AX746800(dist=82503) ENSG00000240121(dist=74001),ENSG00000255188(dist=175949) Na Na Na Na Na Na Het;+T 504;44|27 Het;+T 447;20|23 Hom;+T 1330;1|51 N N - 11 129801043 129801043 C T snp synonymous SNV G1398A Q466Q polar,hydrophilic,neutral polar,hydrophilic,neutral PRDM10 Prdm10 ENSG00000170325 PR/SET domain 10 chr11:129769601-129872730 The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] C-Reactive Protein; breast cancer; benzene haematotoxicity GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM10 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM10&submit=Quick%0D%12680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM10 rs2277033 0.641973 0.5629 0.5190 1 0 0 exonic exonic exonic PRDM10 PRDM10 ENSG00000170325 synonymous SNV synonymous SNV unknown PRDM10:NM_020228:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199439:exon7:c.G1140A:p.Q380Q,PRDM10:NM_199437:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199438:exon7:c.G1140A:p.Q380Q, PRDM10:uc009zct.1:exon12:c.G1494A:p.Q498Q,PRDM10:uc010sbx.2:exon7:c.G1140A:p.Q380Q,PRDM10:uc001qfk.3:exon7:c.G1140A:p.Q380Q,PRDM10:uc001qfm.3:exon11:c.G1398A:p.Q466Q,PRDM10:uc001qfj.3:exon7:c.G1140A:p.Q380Q,PRDM10:uc001qfl.3:exon7:c.G1140A:p.Q380Q,PRDM10:uc001qfn.3:exon11:c.G1398A:p.Q466Q, UNKNOWN Het;C>T 1725;64|80 Het;C>T 1571;96|79 Hom;C>T 2826;2|107 N N - 11 129816991 129816991 A G snp intronic PRDM10 Prdm10 ENSG00000170325 PR/SET domain 10 chr11:129769601-129872730 The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] C-Reactive Protein; breast cancer; benzene haematotoxicity GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM10 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM10&submit=Quick%0D%12680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM10 rs34161604 0.28734 0.1873 0.1781 1 0 0 intronic intronic intronic PRDM10 PRDM10 ENSG00000170325 Na Na Na Na Na Na Het;A>G 1782;50|69 Het;A>G 1035;41|45 Hom;A>G 2069;0|73 N N - 11 130288797 130288797 A ACCT indel intronic ADAMTS8 Adamts8 ENSG00000134917 ADAM metallopeptidase with thrombospondin type 1 motif 8 chr11:130274820-130298888 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016] Alcoholism O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0035435;phosphate ion transmembrane transport;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008201;heparin binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0009673;low-affinity phosphate transmembrane transporter activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS8 https://www.uniprot.org/uniprot/Q9UP79 https://www.ncbi.nlm.nih.gov/omim/?term=605175 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS8&submit=Quick%0D%7059ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS8 rs34248430 0 0 0 1 0 0 intronic intronic intronic ADAMTS8 ADAMTS8 ENSG00000134917 Na Na Na Na Na Na Het;+CCT 77;4|3 Het;+CCT 193;4|5 Hom;+CCT 143;0|4 N N - 11 130297957 130297957 T C snp synonymous SNV A225G L75L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTS8 Adamts8 ENSG00000134917 ADAM metallopeptidase with thrombospondin type 1 motif 8 chr11:130274820-130298888 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016] Alcoholism O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0035435;phosphate ion transmembrane transport;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008201;heparin binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0009673;low-affinity phosphate transmembrane transporter activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS8 https://www.uniprot.org/uniprot/Q9UP79 https://www.ncbi.nlm.nih.gov/omim/?term=605175 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS8&submit=Quick%0D%7059ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS8 rs7942034 0.913738 0.8873 0.8365 1 0 0 exonic exonic exonic ADAMTS8 ADAMTS8 ENSG00000134917 synonymous SNV synonymous SNV unknown ADAMTS8:NM_007037:exon1:c.A225G:p.L75L, ADAMTS8:uc001qgg.4:exon1:c.A225G:p.L75L, UNKNOWN Het;T>C 667;32|32 Het;T>C 903;36|25 Hom;T>C 1734;0|52 N N - 11 130780270 130780270 C A snp intronic SNX19 Snx19 ENSG00000120451 sorting nexin 19 chr11:130745331-130786404 Coronary Disease|Coronary heart disease|Myocardial Infarction; Cholesterol, HDL; Insulin Resistance; Insulin; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Cholesterol; Coronary Disease|Coronary heart disease; thyroid cancer; Schizophrenia GO:0002062;chondrocyte differentiation;IMP|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0030073;insulin secretion;IGI|GO:1990502;dense core granule maturation;IGI GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNX19 https://www.uniprot.org/uniprot/Q92543 http://www.informatics.jax.org/searchtool/Search.do?query=SNX19&submit=Quick%0D%5209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX19 rs1237478 0.840455 0 0.5316 1 0 0 intronic intronic intronic SNX19 SNX19 ENSG00000120451 Na Na Na Na Na Na Het;C>A 368;7|18 Het;C>A 213;5|11 Hom;C>A 470;0|18 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13132622 13132622 A G snp ncRNA_intronic AC013762.1 rs12797847 0.133387 0 0 1 0 0 intergenic intergenic ncRNA_intronic RASSF10(dist=98969),ARNTL(dist=166652) RASSF10(dist=98969),ARNTL(dist=166703) ENSG00000255558 Na Na Na Na Na Na Het;A>G 276;20|15 Het;A>G 182;10|10 Hom;A>G 445;0|17 N N - 11 133653710 133653710 A G snp ncRNA_exonic LOC646522 rs12283860 0.16254 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC646522 OPCML(dist=251307),AK097142(dist=14225) ENSG00000255258 Na Na Na Na Na Na Het;A>G 1941;93|85 Ref Hom;A>G 3559;2|127 N N - 11 133703588 133703588 C T snp intergenic LOC646522 rs7928857 0.26877 0 0 1 0 0 intergenic intergenic intergenic LOC646522(dist=23317),SPATA19(dist=6929) AK097142(dist=33384),SPATA19(dist=6929) ENSG00000255258(dist=23317),ENSG00000166118(dist=6938) Na Na Na Na Na Na Het;C>T 81;5|5 Ref Hom;C>T 71;0|4 N N - 11 133712348 133712348 G A snp intronic SPATA19 Spata19 ENSG00000166118 spermatogenesis associated 19 chr11:133710526-133715433 Creatinine GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA19 https://www.ncbi.nlm.nih.gov/omim/?term=609805 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA19&submit=Quick%0D%11696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA19 rs2257010 0.329073 0.2904 0.3743 1 0 0 intronic intronic intronic SPATA19 SPATA19 ENSG00000166118 Na Na Na Na Na Na Het;G>A 1135;29|52 Ref Hom;G>A 2250;1|82 N N - 11 133712473 133712473 C T snp intronic SPATA19 Spata19 ENSG00000166118 spermatogenesis associated 19 chr11:133710526-133715433 Creatinine GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA19 https://www.ncbi.nlm.nih.gov/omim/?term=609805 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA19&submit=Quick%0D%11696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA19 rs2257004 0.339856 0.3043 0.3786 1 0 0 intronic intronic intronic SPATA19 SPATA19 ENSG00000166118 Na Na Na Na Na Na Het;C>T 1654;73|74 Ref Hom;C>T 3462;1|136 N N - 11 133712594 133712594 C G snp intronic SPATA19 Spata19 ENSG00000166118 spermatogenesis associated 19 chr11:133710526-133715433 Creatinine GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA19 https://www.ncbi.nlm.nih.gov/omim/?term=609805 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA19&submit=Quick%0D%11696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA19 rs2282601 0.339856 0 0 1 0 0 intronic intronic intronic SPATA19 SPATA19 ENSG00000166118 Na Na Na Na Na Na Het;C>G 480;9|14 Ref Hom;C>G 304;0|8 N N - 11 133714522 133714522 G A snp nonsynonymous SNV C149T A50V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SPATA19 Spata19 ENSG00000166118 spermatogenesis associated 19 chr11:133710526-133715433 Creatinine GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA19 https://www.ncbi.nlm.nih.gov/omim/?term=609805 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA19&submit=Quick%0D%11696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA19 rs2282602 0.339457 0.3045 0.3825 0.62 8 13 exonic exonic exonic SPATA19 SPATA19 ENSG00000166118 nonsynonymous SNV nonsynonymous SNV unknown SPATA19:NM_174927:exon3:c.C149T:p.A50V,SPATA19:NM_001291992:exon3:c.C149T:p.A50V, SPATA19:uc001qgv.1:exon3:c.C149T:p.A50V, UNKNOWN Het;G>A 983;98|55 Ref Hom;G>A 3703;2|143 N N - 11 133714672 133714672 A G snp intronic SPATA19 Spata19 ENSG00000166118 spermatogenesis associated 19 chr11:133710526-133715433 Creatinine GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA19 https://www.ncbi.nlm.nih.gov/omim/?term=609805 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA19&submit=Quick%0D%11696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA19 rs2282604 0.351438 0 0 1 0 0 intronic intronic intronic SPATA19 SPATA19 ENSG00000166118 Na Na Na Na Na Na Het;A>G 212;12|7 Ref Hom;A>G 396;0|11 N N - 11 133767269 133767275 ACACACG A indel ncRNA_exonic MIR4697HG rs145670824 0.0415335 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic MIR4697HG MIR4697HG ENSG00000213153(dist=31747),ENSG00000264919(dist=1124) Na Na Na Na Na Na Het;-CACACG 2793;71|75 Ref Hom;-CACACG 6871;0|162 N N - 11 133769699 133769699 A G snp ncRNA_exonic MIR4697HG rs329652 0.584465 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic MIR4697HG MIR4697HG ENSG00000264919(dist=1223),ENSG00000080854(dist=8760) Na Na Na Na Na Na Het;A>G 2069;76|81 Ref Hom;A>G 3146;0|105 N N - 11 133769957 133769957 T C snp ncRNA_exonic MIR4697HG rs55807834 0.0385383 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic MIR4697HG MIR4697HG ENSG00000264919(dist=1481),ENSG00000080854(dist=8502) Na Na Na Na Na Na Het;T>C 2200;113|90 Ref Hom;T>C 4064;4|147 N N - 11 133814191 133814191 A G snp synonymous SNV T333C Y111Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic IGSF9B Igsf9b ENSG00000080854 immunoglobulin superfamily member 9B chr11:133778459-133826880 GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007399;nervous system development;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA GO:0019900;kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGSF9B https://www.uniprot.org/uniprot/Q9UPX0 https://www.ncbi.nlm.nih.gov/omim/?term=613773 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF9B&submit=Quick%0D%1749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF9B rs595986 0.488019 0.5978 0.6232 1 0 0 exonic exonic exonic IGSF9B IGSF9B ENSG00000080854 synonymous SNV synonymous SNV unknown IGSF9B:NM_001277285:exon3:c.T333C:p.Y111Y, IGSF9B:uc031qfh.1:exon3:c.T333C:p.Y111Y, UNKNOWN Het;A>G 632;22|27 Ref Hom;A>G 1406;0|56 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13400051 13400051 T A snp intronic ARNTL Arntl ENSG00000133794 aryl hydrocarbon receptor nuclear translocator like chr11:13298199-13408813 The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] bipolar disorder schizoaffective disorder schizophrenia; hypertension; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; prostate cancer; Obesity; Bipolar Disorder; bipolar disorder; depression; schizophrenia | bipolar disorder; Heart Failure; Sleep Disorders; metabolic syndrome Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. Circadian Clock GO:0000060;protein import into nucleus, translocation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007283;spermatogenesis;ISS|GO:0007623;circadian rhythm;TAS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032922;circadian regulation of gene expression;IDA|GO:0042176;regulation of protein catabolic process;IEA|GO:0042634;regulation of hair cycle;IMP|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;ISS|GO:0045599;negative regulation of fat cell differentiation;ISS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0048511;rhythmic process;IEA|GO:0050767;regulation of neurogenesis;ISS|GO:0050796;regulation of insulin secretion;ISS|GO:0051726;regulation of cell cycle;ISS|GO:0051775;response to redox state;IDA|GO:0060137;maternal process involved in parturition;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:0090403;oxidative stress-induced premature senescence;ISS|GO:2000074;regulation of type B pancreatic cell development;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000772;regulation of cellular senescence;ISS|GO:2001016;positive regulation of skeletal muscle cell differentiation;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IPI|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IEA|GO:0016605;PML body;IEA|GO:0033391;chromatoid body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;ISS|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IGI|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0043425;bHLH transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;ISS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA|GO:0051879;Hsp90 protein binding;IDA|GO:0070491;repressing transcription factor binding;IPI|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARNTL https://www.uniprot.org/uniprot/O00327 https://www.ncbi.nlm.nih.gov/omim/?term=602550 http://www.informatics.jax.org/searchtool/Search.do?query=ARNTL&submit=Quick%0D%6870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARNTL rs60280155 0.189097 0 0 1 0 0 intronic intronic intronic ARNTL ARNTL ENSG00000133794 Na Na Na Na Na Na Het;T>A 397;17|18 Het;T>A 223;15|10 Hom;T>A 446;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13407184 13407184 C T snp intronic ARNTL Arntl ENSG00000133794 aryl hydrocarbon receptor nuclear translocator like chr11:13298199-13408813 The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] bipolar disorder schizoaffective disorder schizophrenia; hypertension; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; prostate cancer; Obesity; Bipolar Disorder; bipolar disorder; depression; schizophrenia | bipolar disorder; Heart Failure; Sleep Disorders; metabolic syndrome Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. Circadian Clock GO:0000060;protein import into nucleus, translocation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007283;spermatogenesis;ISS|GO:0007623;circadian rhythm;TAS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032922;circadian regulation of gene expression;IDA|GO:0042176;regulation of protein catabolic process;IEA|GO:0042634;regulation of hair cycle;IMP|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;ISS|GO:0045599;negative regulation of fat cell differentiation;ISS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0048511;rhythmic process;IEA|GO:0050767;regulation of neurogenesis;ISS|GO:0050796;regulation of insulin secretion;ISS|GO:0051726;regulation of cell cycle;ISS|GO:0051775;response to redox state;IDA|GO:0060137;maternal process involved in parturition;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:0090403;oxidative stress-induced premature senescence;ISS|GO:2000074;regulation of type B pancreatic cell development;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000772;regulation of cellular senescence;ISS|GO:2001016;positive regulation of skeletal muscle cell differentiation;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IPI|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IEA|GO:0016605;PML body;IEA|GO:0033391;chromatoid body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;ISS|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IGI|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0043425;bHLH transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;ISS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA|GO:0051879;Hsp90 protein binding;IDA|GO:0070491;repressing transcription factor binding;IPI|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARNTL https://www.uniprot.org/uniprot/O00327 https://www.ncbi.nlm.nih.gov/omim/?term=602550 http://www.informatics.jax.org/searchtool/Search.do?query=ARNTL&submit=Quick%0D%6870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARNTL rs2290034 0.187101 0.1813 0 1 0 0 intronic intronic intronic ARNTL ARNTL ENSG00000133794 Na Na Na Na Na Na Het;C>T 676;12|27 Het;C>T 446;10|20 Hom;C>T 738;0|26 N N - 11 134151436 134151436 G C snp intronic GLB1L3 Glb1l3 ENSG00000166105 galactosidase beta 1 like 3 chr11:134144139-134189458 Tobacco Use Disorder GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA GO:0005773;vacuole;IBA GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004565;beta-galactosidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLB1L3 http://www.informatics.jax.org/searchtool/Search.do?query=GLB1L3&submit=Quick%0D%11693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLB1L3 rs28472542 0.529952 0 0 1 0 0 intronic intronic intronic GLB1L3 GLB1L3 ENSG00000166105 Na Na Na Na Na Na Het;G>C 89;2|4 Ref Hom;G>C 228;0|6 N N - 11 134152030 134152030 G A snp intronic GLB1L3 Glb1l3 ENSG00000166105 galactosidase beta 1 like 3 chr11:134144139-134189458 Tobacco Use Disorder GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA GO:0005773;vacuole;IBA GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004565;beta-galactosidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLB1L3 http://www.informatics.jax.org/searchtool/Search.do?query=GLB1L3&submit=Quick%0D%11693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLB1L3 rs10791352 0.718251 0.7338 0.7733 1 0 0 intronic intronic intronic GLB1L3 GLB1L3 ENSG00000166105 Na Na Na Na Na Na Het;G>A 1468;56|66 Ref Hom;G>A 2668;0|101 N N - 11 134182856 134182856 A G snp intronic GLB1L3 Glb1l3 ENSG00000166105 galactosidase beta 1 like 3 chr11:134144139-134189458 Tobacco Use Disorder GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA GO:0005773;vacuole;IBA GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004565;beta-galactosidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLB1L3 http://www.informatics.jax.org/searchtool/Search.do?query=GLB1L3&submit=Quick%0D%11693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLB1L3 rs1144216 0.72484 0 0 1 0 0 intronic intronic intronic GLB1L3 GLB1L3 ENSG00000166105 Na Na Na Na Na Na Het;A>G 264;13|13 Ref Hom;A>G 628;0|23 N N - 11 134214445 134214445 G C snp intronic GLB1L2 Glb1l2 ENSG00000149328 galactosidase beta 1 like 2 chr11:134201768-134248235 Homozygous mutant mice show decreased mean white blood cell and lymphocyte counts and a decreased mean percentage of natural killer cells. Male mutant mice exhibit impaired glucose tolerance. GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005773;vacuole;IBA GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004565;beta-galactosidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLB1L2 https://www.uniprot.org/uniprot/Q8IW92 http://www.informatics.jax.org/searchtool/Search.do?query=GLB1L2&submit=Quick%0D%9223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLB1L2 rs2581881 0.702875 0 0 1 0 0 intronic intronic intronic GLB1L2 GLB1L2 ENSG00000149328 Na Na Na Na Na Na Het;G>C 151;19|6 Ref Hom;G>C 220;0|7 N N - 11 134375308 134375308 T G snp ncRNA_exonic LOC283177 rs11223878 0.475839 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC283177 LOC283177 ENSG00000255545 Na Na Na Na Na Na Het;T>G 2129;117|82 Ref Hom;T>G 5607;4|189 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13441126 13441126 A G snp synonymous SNV T321C N107N polar,hydrophilic,neutral polar,hydrophilic,neutral BTBD10 Btbd10 ENSG00000148925 BTB domain containing 10 chr11:13409548-13484844 Tobacco Use Disorder GO:0042327;positive regulation of phosphorylation;ISS|GO:0044342;type B pancreatic cell proliferation;ISS|GO:1901215;negative regulation of neuron death;ISS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTBD10 https://www.uniprot.org/uniprot/Q9BSF8 https://www.ncbi.nlm.nih.gov/omim/?term=615933 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD10&submit=Quick%0D%9173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD10 rs7114113 0.148163 0.1441 0.1717 1 0 0 exonic exonic exonic BTBD10 BTBD10 ENSG00000148925 synonymous SNV synonymous SNV unknown BTBD10:NM_001297741:exon3:c.T321C:p.N107N,BTBD10:NM_001297742:exon3:c.T489C:p.N163N,BTBD10:NM_032320:exon4:c.T465C:p.N155N, BTBD10:uc009ygo.3:exon3:c.T321C:p.N107N,BTBD10:uc001mkz.3:exon4:c.T465C:p.N155N,BTBD10:uc010rcn.2:exon3:c.T372C:p.N124N,BTBD10:uc010rcm.2:exon3:c.T321C:p.N107N,BTBD10:uc010rcl.2:exon3:c.T489C:p.N163N, UNKNOWN Het;A>G 1354;66|60 Het;A>G 1427;85|70 Hom;A>G 3384;2|123 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13443250 13443250 C T snp synonymous SNV G93A T31T polar,hydrophilic,neutral polar,hydrophilic,neutral BTBD10 Btbd10 ENSG00000148925 BTB domain containing 10 chr11:13409548-13484844 Tobacco Use Disorder GO:0042327;positive regulation of phosphorylation;ISS|GO:0044342;type B pancreatic cell proliferation;ISS|GO:1901215;negative regulation of neuron death;ISS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTBD10 https://www.uniprot.org/uniprot/Q9BSF8 https://www.ncbi.nlm.nih.gov/omim/?term=615933 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD10&submit=Quick%0D%9173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD10 rs3789325 0.140176 0.1374 0.1697 1 0 0 exonic exonic exonic BTBD10 BTBD10 ENSG00000148925 synonymous SNV synonymous SNV unknown BTBD10:NM_001297741:exon2:c.G93A:p.T31T,BTBD10:NM_001297742:exon2:c.G261A:p.T87T,BTBD10:NM_032320:exon3:c.G237A:p.T79T, BTBD10:uc009ygo.3:exon2:c.G93A:p.T31T,BTBD10:uc001mkz.3:exon3:c.G237A:p.T79T,BTBD10:uc010rcn.2:exon2:c.G144A:p.T48T,BTBD10:uc010rcm.2:exon2:c.G93A:p.T31T,BTBD10:uc010rcl.2:exon2:c.G261A:p.T87T, UNKNOWN Het;C>T 659;28|29 Het;C>T 566;35|30 Hom;C>T 1624;1|61 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13443459 13443459 A T snp intronic BTBD10 Btbd10 ENSG00000148925 BTB domain containing 10 chr11:13409548-13484844 Tobacco Use Disorder GO:0042327;positive regulation of phosphorylation;ISS|GO:0044342;type B pancreatic cell proliferation;ISS|GO:1901215;negative regulation of neuron death;ISS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTBD10 https://www.uniprot.org/uniprot/Q9BSF8 https://www.ncbi.nlm.nih.gov/omim/?term=615933 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD10&submit=Quick%0D%9173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD10 rs11022814 0.140176 0 0 1 0 0 intronic intronic intronic BTBD10 BTBD10 ENSG00000148925 Na Na Na Na Na Na Het;A>T 36;3|2 Ref Hom;A>T 263;0|10 N N - 11 134828996 134828996 A C snp intergenic LOC283177 rs4937987 0.893171 0 0 1 0 0 intergenic intergenic intergenic LOC283177(dist=453441),NONE(dist=NONE) AK125040(dist=195292),AK130852(dist=26250) ENSG00000255327(dist=7534),ENSG00000268936(dist=26250) Na Na Na Na Na Na Het;A>C 389;13|17 Ref Hom;A>C 1567;0|59 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13513478 13513478 G A snp downstream PTH Pth ENSG00000152266 parathyroid hormone chr11:13513602-13517728 This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Echocardiography; hyperparathyroidism; Type 2 Diabetes| edema | rosiglitazone; osteoporosis; calcium homeostasis and peripheral bone density ; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Aortic Valve Stenosis|; bone density; lung cancer; adult height urinary pyridinoline excretion; Osteoporosis; chronic obstructive pulmonary disease; Alzheimer's disease ; bone density calcium phosphorus; Fractures, Bone|Osteoporosis; Hip Fractures|Osteoporosis, Postmenopausal; Bone Mineral Density; spinal ossification; Bone Density; cardiovascular mortality; spondylosis, lumbar; primary hyperparathyroidism; bladder cancer; lung cancer Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. G alpha (s) signalling events GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IMP|GO:0007266;Rho protein signal transduction;IEA|GO:0007267;cell-cell signaling;TAS|GO:0008628;hormone-mediated apoptotic signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010288;response to lead ion;IEA|GO:0010468;regulation of gene expression;IDA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033280;response to vitamin D;IEA|GO:0034645;cellular macromolecule biosynthetic process;IDA|GO:0042493;response to drug;IEA|GO:0045453;bone resorption;NAS|GO:0045471;response to ethanol;IEA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045778;positive regulation of ossification;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046058;cAMP metabolic process;TAS|GO:0046326;positive regulation of glucose import;IDA|GO:0046686;response to cadmium ion;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IMP|GO:0071107;response to parathyroid hormone;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071864;positive regulation of cell proliferation in bone marrow;IEA|GO:0071866;negative regulation of apoptotic process in bone marrow;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA|GO:1900158;negative regulation of bone mineralization involved in bone maturation;IEA|GO:2000273;positive regulation of receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005623;cell;IEA GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IMP|GO:0005179;hormone activity;IMP|GO:0031856;parathyroid hormone receptor binding;IEA|GO:0031857;type 1 parathyroid hormone receptor binding;IMP|GO:0047485;protein N-terminus binding;IMP|GO:0048018;receptor agonist activity;IMP|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTH https://www.uniprot.org/uniprot/P01270 https://hpo.jax.org/app/browse/search?q=PTH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168450 http://www.informatics.jax.org/searchtool/Search.do?query=PTH&submit=Quick%0D%9529ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH rs307247 0.453674 0 0 1 0 0 downstream downstream downstream PTH PTH ENSG00000152266 Na Na Na Na Na Na Het;G>A 129;7|5 Het;G>A 68;3|3 Hom;G>A 125;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13514505 13514505 C T snp intronic PTH Pth ENSG00000152266 parathyroid hormone chr11:13513602-13517728 This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Echocardiography; hyperparathyroidism; Type 2 Diabetes| edema | rosiglitazone; osteoporosis; calcium homeostasis and peripheral bone density ; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Aortic Valve Stenosis|; bone density; lung cancer; adult height urinary pyridinoline excretion; Osteoporosis; chronic obstructive pulmonary disease; Alzheimer's disease ; bone density calcium phosphorus; Fractures, Bone|Osteoporosis; Hip Fractures|Osteoporosis, Postmenopausal; Bone Mineral Density; spinal ossification; Bone Density; cardiovascular mortality; spondylosis, lumbar; primary hyperparathyroidism; bladder cancer; lung cancer Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. G alpha (s) signalling events GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IMP|GO:0007266;Rho protein signal transduction;IEA|GO:0007267;cell-cell signaling;TAS|GO:0008628;hormone-mediated apoptotic signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010288;response to lead ion;IEA|GO:0010468;regulation of gene expression;IDA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033280;response to vitamin D;IEA|GO:0034645;cellular macromolecule biosynthetic process;IDA|GO:0042493;response to drug;IEA|GO:0045453;bone resorption;NAS|GO:0045471;response to ethanol;IEA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045778;positive regulation of ossification;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046058;cAMP metabolic process;TAS|GO:0046326;positive regulation of glucose import;IDA|GO:0046686;response to cadmium ion;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IMP|GO:0071107;response to parathyroid hormone;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071864;positive regulation of cell proliferation in bone marrow;IEA|GO:0071866;negative regulation of apoptotic process in bone marrow;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA|GO:1900158;negative regulation of bone mineralization involved in bone maturation;IEA|GO:2000273;positive regulation of receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005623;cell;IEA GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IMP|GO:0005179;hormone activity;IMP|GO:0031856;parathyroid hormone receptor binding;IEA|GO:0031857;type 1 parathyroid hormone receptor binding;IMP|GO:0047485;protein N-terminus binding;IMP|GO:0048018;receptor agonist activity;IMP|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTH https://www.uniprot.org/uniprot/P01270 https://hpo.jax.org/app/browse/search?q=PTH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168450 http://www.informatics.jax.org/searchtool/Search.do?query=PTH&submit=Quick%0D%9529ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH rs177706 0.497005 0 0 1 0 0 intronic intronic intronic PTH PTH ENSG00000152266 Na Na Na Na Na Na Het;C>T 188;13|7 Het;C>T 75;12|4 Hom;C>T 535;0|16 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13517404 13517404 A G snp intronic PTH Pth ENSG00000152266 parathyroid hormone chr11:13513602-13517728 This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Echocardiography; hyperparathyroidism; Type 2 Diabetes| edema | rosiglitazone; osteoporosis; calcium homeostasis and peripheral bone density ; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Aortic Valve Stenosis|; bone density; lung cancer; adult height urinary pyridinoline excretion; Osteoporosis; chronic obstructive pulmonary disease; Alzheimer's disease ; bone density calcium phosphorus; Fractures, Bone|Osteoporosis; Hip Fractures|Osteoporosis, Postmenopausal; Bone Mineral Density; spinal ossification; Bone Density; cardiovascular mortality; spondylosis, lumbar; primary hyperparathyroidism; bladder cancer; lung cancer Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. G alpha (s) signalling events GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IMP|GO:0007266;Rho protein signal transduction;IEA|GO:0007267;cell-cell signaling;TAS|GO:0008628;hormone-mediated apoptotic signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010288;response to lead ion;IEA|GO:0010468;regulation of gene expression;IDA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033280;response to vitamin D;IEA|GO:0034645;cellular macromolecule biosynthetic process;IDA|GO:0042493;response to drug;IEA|GO:0045453;bone resorption;NAS|GO:0045471;response to ethanol;IEA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045778;positive regulation of ossification;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046058;cAMP metabolic process;TAS|GO:0046326;positive regulation of glucose import;IDA|GO:0046686;response to cadmium ion;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IMP|GO:0071107;response to parathyroid hormone;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071864;positive regulation of cell proliferation in bone marrow;IEA|GO:0071866;negative regulation of apoptotic process in bone marrow;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA|GO:1900158;negative regulation of bone mineralization involved in bone maturation;IEA|GO:2000273;positive regulation of receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005623;cell;IEA GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IMP|GO:0005179;hormone activity;IMP|GO:0031856;parathyroid hormone receptor binding;IEA|GO:0031857;type 1 parathyroid hormone receptor binding;IMP|GO:0047485;protein N-terminus binding;IMP|GO:0048018;receptor agonist activity;IMP|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTH https://www.uniprot.org/uniprot/P01270 https://hpo.jax.org/app/browse/search?q=PTH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168450 http://www.informatics.jax.org/searchtool/Search.do?query=PTH&submit=Quick%0D%9529ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH rs3099597 0.453474 0 0 1 0 0 intronic intronic intronic PTH PTH ENSG00000152266 Na Na Na Na Na Na Het;A>G 351;5|12 Het;A>G 127;12|6 Hom;A>G 394;0|12 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13566659 13566659 G A snp intergenic PTH Pth ENSG00000152266 parathyroid hormone chr11:13513602-13517728 This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Echocardiography; hyperparathyroidism; Type 2 Diabetes| edema | rosiglitazone; osteoporosis; calcium homeostasis and peripheral bone density ; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Aortic Valve Stenosis|; bone density; lung cancer; adult height urinary pyridinoline excretion; Osteoporosis; chronic obstructive pulmonary disease; Alzheimer's disease ; bone density calcium phosphorus; Fractures, Bone|Osteoporosis; Hip Fractures|Osteoporosis, Postmenopausal; Bone Mineral Density; spinal ossification; Bone Density; cardiovascular mortality; spondylosis, lumbar; primary hyperparathyroidism; bladder cancer; lung cancer Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. G alpha (s) signalling events GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IMP|GO:0007266;Rho protein signal transduction;IEA|GO:0007267;cell-cell signaling;TAS|GO:0008628;hormone-mediated apoptotic signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010288;response to lead ion;IEA|GO:0010468;regulation of gene expression;IDA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033280;response to vitamin D;IEA|GO:0034645;cellular macromolecule biosynthetic process;IDA|GO:0042493;response to drug;IEA|GO:0045453;bone resorption;NAS|GO:0045471;response to ethanol;IEA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045778;positive regulation of ossification;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046058;cAMP metabolic process;TAS|GO:0046326;positive regulation of glucose import;IDA|GO:0046686;response to cadmium ion;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IMP|GO:0071107;response to parathyroid hormone;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071864;positive regulation of cell proliferation in bone marrow;IEA|GO:0071866;negative regulation of apoptotic process in bone marrow;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA|GO:1900158;negative regulation of bone mineralization involved in bone maturation;IEA|GO:2000273;positive regulation of receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005623;cell;IEA GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IMP|GO:0005179;hormone activity;IMP|GO:0031856;parathyroid hormone receptor binding;IEA|GO:0031857;type 1 parathyroid hormone receptor binding;IMP|GO:0047485;protein N-terminus binding;IMP|GO:0048018;receptor agonist activity;IMP|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTH https://www.uniprot.org/uniprot/P01270 https://hpo.jax.org/app/browse/search?q=PTH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168450 http://www.informatics.jax.org/searchtool/Search.do?query=PTH&submit=Quick%0D%9529ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH rs28773026 0.451877 0 0 1 0 0 intergenic intergenic intergenic PTH(dist=49092),FAR1(dist=123547) PTH(dist=49092),FAR1(dist=123547) ENSG00000152266(dist=48931),ENSG00000228901(dist=65251) Na Na Na Na Na Na Het;G>A 37;3|2 Ref Hom;G>A 258;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13943228 13943228 C T snp ncRNA_exonic AC022240.1 rs2271155 0.620807 0 0 1 0 0 intergenic intergenic ncRNA_exonic FAR1(dist=189335),SPON1(dist=40956) FAR1(dist=189335),SPON1(dist=40956) ENSG00000254438 Na Na Na Na Na Na Het;C>T 2961;169|131 Het;C>T 2426;146|110 Hom;C>T 7405;2|265 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13943261 13943261 T G snp ncRNA_exonic AC022240.1 rs2271154 0.677316 0 0 1 0 0 intergenic intergenic ncRNA_exonic FAR1(dist=189368),SPON1(dist=40923) FAR1(dist=189368),SPON1(dist=40923) ENSG00000254438 Na Na Na Na Na Na Het;T>G 3116;156|129 Het;T>G 2590;129|107 Hom;T>G 7016;2|251 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 13943515 13943516 GA G indel ncRNA_intronic AC022240.1 rs35088080 0.677915 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAR1(dist=189622),SPON1(dist=40668) FAR1(dist=189622),SPON1(dist=40668) ENSG00000254438 Na Na Na Na Na Na Het;-A 886;30|47 Het;-A 547;50|34 Hom;-A 1874;2|82 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14004545 14004545 G A snp ncRNA_intronic ENSG00000152268 rs563656974 0.000199681 0 0.0004 1 0 0 intronic intronic ncRNA_intronic SPON1 SPON1 ENSG00000152268 Na Na Na Na Na Na Het;G>A 855;29|35 Het;G>A 613;23|27 Hom;G>A 1090;0|37 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14264916 14264916 A G snp synonymous SNV A861G Q287Q polar,hydrophilic,neutral polar,hydrophilic,neutral SPON1 Spon1 ENSG00000262655 spondin 1 chr11:13983914-14289646 Tobacco Use Disorder; Tumor Necrosis Factor-alpha; Triglycerides Mice homozygous for a null allele display increased trabecular and cortical bone mass. O-glycosylation of TSR domain-containing proteins GO:0007155;cell adhesion;IEA|GO:0036066;protein O-linked fucosylation;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPON1 https://www.ncbi.nlm.nih.gov/omim/?term=604989 http://www.informatics.jax.org/searchtool/Search.do?query=SPON1&submit=Quick%0D%20504ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPON1 rs2303973 0.438299 0.4761 0.5166 1 0 0 exonic exonic ncRNA_exonic SPON1 SPON1 ENSG00000152268 unknown synonymous SNV Na UNKNOWN SPON1:uc001mle.3:exon8:c.A861G:p.Q287Q, Na Het;A>G 1260;91|63 Het;A>G 1034;67|50 Hom;A>G 2772;0|105 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14279473 14279473 G A snp ncRNA_intronic ENSG00000152268 rs149524802 0.0103834 0.0145 0.0248 1 0 0 intronic intronic ncRNA_intronic SPON1 SPON1 ENSG00000152268 Na Na Na Na Na Na Het;G>A 328;21|18 Het;G>A 199;14|10 Hom;G>A 1172;0|41 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14303282 14303282 T A snp intronic RRAS2 Rras2 ENSG00000133818 related RAS viral (r-ras) oncogene homolog 2 chr11:14299472-14386052 This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] breast cancer ; Body Mass Index; Respiration Disorders; Parkinson's disease ; Alcoholism Homozygote and heterozygote null mice are lymphopenic, resulting from diminished homeostatic proliferation and impaired T cell and B cell survival. Mice homozygous for a gene trap insertion exhibit retinal degeneration, and increased total body mass and total body fat. GO:0001649;osteoblast differentiation;IDA|GO:0007165;signal transduction;IEA|GO:0007265;Ras protein signal transduction;IEA|GO:0009987;cellular process;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:1901214;regulation of neuron death;IMP GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;NAS|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RRAS2 https://www.uniprot.org/uniprot/P62070 https://www.ncbi.nlm.nih.gov/omim/?term=600098 http://www.informatics.jax.org/searchtool/Search.do?query=RRAS2&submit=Quick%0D%6876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRAS2 rs2303972 0.338458 0.3645 0.4165 1 0 0 intronic intronic intronic RRAS2 RRAS2 ENSG00000133818 Na Na Na Na Na Na Het;T>A 655;43|33 Het;T>A 928;53|41 Hom;T>A 3437;1|125 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14480292 14480292 C T snp intronic COPB1 Copb1 ENSG00000129083 coatomer protein complex subunit beta 1 chr11:14464986-14521573 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] COPI-dependent Golgi-to-ER retrograde traffic GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043312;neutrophil degranulation;TAS GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030126;COPI vesicle coat;IEA|GO:0030133;transport vesicle;TAS|GO:0030137;COPI-coated vesicle;IEA|GO:0030663;COPI-coated vesicle membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COPB1 https://www.uniprot.org/uniprot/P53618 https://www.ncbi.nlm.nih.gov/omim/?term=600959 http://www.informatics.jax.org/searchtool/Search.do?query=COPB1&submit=Quick%0D%6212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COPB1 rs12576926 0.339856 0 0 1 0 0 intronic intronic intronic COPB1 COPB1 ENSG00000129083 Na Na Na Na Na Na Het;C>T 400;11|17 Het;C>T 197;14|10 Hom;C>T 635;1|25 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14534999 14534999 T A snp intronic PSMA1 Psma1 ENSG00000129084 proteasome subunit alpha 1 chr11:14515329-14541890 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;TAS|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;ISS|GO:0005844;polysome;TAS|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;TAS|GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMA1 https://www.uniprot.org/uniprot/P25786 https://www.ncbi.nlm.nih.gov/omim/?term=602854 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA1&submit=Quick%0D%6213ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA1 rs2305306 0.335064 0 0 1 0 0 intronic intronic intronic PSMA1 PSMA1 ENSG00000129084,ENSG00000256206 Na Na Na Na Na Na Het;T>A 106;3|4 Het;T>A 33;2|2 Hom;T>A 113;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 14913575 14913575 G A snp synonymous SNV C177T S59S polar,hydrophilic,neutral polar,hydrophilic,neutral CYP2R1 Cyp2r1 ENSG00000186104 cytochrome P450 family 2 subfamily R member 1 chr11:14899553-14913798 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008] Vitamin D; Vitamin D Deficiency; diabetes, type 1 Vitamin D; Asthma|; asthma; Diabetes, Gestational|Vitamin D Deficiency; diabetic nephropathy; multiple sclerosis Mice homozygous for a knock-out allele exhibit more than a 50% reduction in serum 25-hydroxyvitamin D3 levels but remain healthy and show normal serum 1alpha,25-dihydroxyvitamin D3 levels. Vitamins GO:0006766;vitamin metabolic process;TAS|GO:0010038;response to metal ion;IEA|GO:0010164;response to cesium ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0036378;calcitriol biosynthetic process from calciol;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0030343;vitamin D3 25-hydroxylase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2R1 https://hpo.jax.org/app/browse/search?q=CYP2R1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608713 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2R1&submit=Quick%0D%15567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2R1 rs12794714 0.349241 0.3416 0.4106 1 0 0 exonic exonic exonic CYP2R1 CYP2R1 ENSG00000186104 synonymous SNV synonymous SNV unknown CYP2R1:NM_024514:exon1:c.C177T:p.S59S, CYP2R1:uc001mlr.3:exon1:c.C177T:p.S59S, UNKNOWN Het;G>A 248;12|11 Het;G>A 114;14|6 Hom;G>A 839;0|28 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 15317471 15317471 C T snp intergenic INSC Insc ENSG00000188487 INSC, spindle orientation adaptor protein chr11:15133970-15268754 In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder; Forced Expiratory Volume; Bone Density; Stroke; Hip; Prostatic Neoplasms Homozygous inactivation of this gene leads to abnormal cochlear hair cell morphology. GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA http://www.genecards.org/index.php?path=/Search/keyword/INSC https://www.ncbi.nlm.nih.gov/omim/?term=610668 http://www.informatics.jax.org/searchtool/Search.do?query=INSC&submit=Quick%0D%16041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INSC rs11023511 0.127396 0 0 1 0 0 intergenic intergenic intergenic INSC(dist=48715),LOC102724957(dist=347960) INSC(dist=48715),SnoMBII_202(dist=185883) ENSG00000188487(dist=48717),ENSG00000253072(dist=185883) Na Na Na Na Na Na Het;C>T 107;4|4 Het;C>T 152;3|5 Hom;C>T 222;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 15879426 15879426 G A snp intergenic LOC102724957 rs4756833 0.309904 0 0 1 0 0 intergenic intergenic intergenic LOC102724957(dist=152512),SOX6(dist=108569) SnoMBII_202(dist=375987),SOX6(dist=108569) ENSG00000254645(dist=98982),ENSG00000254661(dist=53077) Na Na Na Na Na Na Het;G>A 42;1|3 Ref Hom;G>A 111;0|5 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16810599 16810599 C T snp UTR3 *35G>A PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs77525146 0.0636981 0.0890 0.1343 1 0 0 UTR3 UTR3 UTR3 PLEKHA7(NM_175058:c.*35G>A) PLEKHA7(uc001mmm.3:c.*35G>A,uc010rcv.2:c.*35G>A,uc001mmn.3:c.*35G>A,uc001mmo.3:c.*35G>A) ENSG00000166689(ENST00000355661:c.*35G>A,ENST00000530489:c.*35G>A,ENST00000448080:c.*35G>A,ENST00000532079:c.*187G>A) Na Na Na Na Na Na Het;C>T 671;13|27 Het;C>T 436;8|19 Hom;C>T 239;0|9 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16847558 16847558 A G snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs400458 0.195088 0 0 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;A>G 95;4|4 Ref Hom;A>G 303;0|10 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16848077 16848077 G A snp synonymous SNV C933T H311H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs390974 0.194289 0.1694 0.1421 1 0 0 exonic exonic exonic PLEKHA7 PLEKHA7 ENSG00000166689 synonymous SNV synonymous SNV unknown PLEKHA7:NM_175058:exon10:c.C933T:p.H311H, PLEKHA7:uc001mmo.3:exon10:c.C933T:p.H311H,PLEKHA7:uc010rcu.1:exon10:c.C933T:p.H311H,PLEKHA7:uc001mmn.3:exon1:c.C57T:p.H19H, UNKNOWN Het;G>A 1641;83|73 Het;G>A 1922;87|86 Hom;G>A 5477;0|201 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16863049 16863049 C T snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs369457 0.194688 0.1689 0.1430 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;C>T 906;32|36 Het;C>T 763;36|28 Hom;C>T 1656;2|59 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16863087 16863087 A G snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs452745 0.194688 0.1691 0.1433 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;A>G 1472;60|63 Het;A>G 1502;72|59 Hom;A>G 3003;2|109 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16863362 16863362 T A snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs454869 0.194688 0 0 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;T>A 262;17|12 Het;T>A 442;13|18 Hom;T>A 836;0|30 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16872957 16872957 A C snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs381163 0.869609 0 0 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;A>C 415;5|13 Het;A>C 196;6|8 Hom;A>C 471;0|12 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16873799 16873799 C T snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs417406 0.11262 0.0907 0.1200 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;C>T 465;27|22 Het;C>T 339;11|16 Hom;C>T 946;0|35 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 16876618 16876618 G A snp intronic PLEKHA7 Plekha7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 rs409354 0.104433 0 0 1 0 0 intronic intronic intronic PLEKHA7 PLEKHA7 ENSG00000166689 Na Na Na Na Na Na Het;G>A 785;13|26 Het;G>A 369;7|12 Hom;G>A 909;0|30 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17126670 17126670 C T snp intronic PIK3C2A Pik3c2a ENSG00000011405 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha chr11:17099277-17229530 The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; prostate cancer; Carcinoma, Squamous Cell|Gingival Neoplasms|Mandibular Neoplasms|Mouth Neoplasms|Squamous cell carcinoma|Tongue Neoplasms; Schizophrenia; Tobacco Use Disorder; Endometrial Neoplasms Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. Clathrin-mediated endocytosis GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014829;vascular smooth muscle contraction;TAS|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048268;clathrin coat assembly;TAS|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;TAS|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2A https://www.uniprot.org/uniprot/O00443 https://hpo.jax.org/app/browse/search?q=PIK3C2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603601 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2A&submit=Quick%0D%557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2A rs2052188 0.365615 0.4357 0.4049 1 0 0 intronic intronic intronic PIK3C2A PIK3C2A ENSG00000011405 Na Na Na Na Na Na Het;C>T 332;25|18 Het;C>T 501;10|23 Hom;C>T 1372;0|49 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17132237 17132237 G A snp intronic PIK3C2A Pik3c2a ENSG00000011405 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha chr11:17099277-17229530 The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; prostate cancer; Carcinoma, Squamous Cell|Gingival Neoplasms|Mandibular Neoplasms|Mouth Neoplasms|Squamous cell carcinoma|Tongue Neoplasms; Schizophrenia; Tobacco Use Disorder; Endometrial Neoplasms Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. Clathrin-mediated endocytosis GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014829;vascular smooth muscle contraction;TAS|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048268;clathrin coat assembly;TAS|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;TAS|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2A https://www.uniprot.org/uniprot/O00443 https://hpo.jax.org/app/browse/search?q=PIK3C2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603601 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2A&submit=Quick%0D%557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2A rs7118006 0.361422 0 0 1 0 0 intronic intronic intronic PIK3C2A PIK3C2A ENSG00000011405 Na Na Na Na Na Na Het;G>A 146;5|5 Ref Hom;G>A 379;0|12 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17172370 17172370 A T snp intronic PIK3C2A Pik3c2a ENSG00000011405 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha chr11:17099277-17229530 The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; prostate cancer; Carcinoma, Squamous Cell|Gingival Neoplasms|Mandibular Neoplasms|Mouth Neoplasms|Squamous cell carcinoma|Tongue Neoplasms; Schizophrenia; Tobacco Use Disorder; Endometrial Neoplasms Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. Clathrin-mediated endocytosis GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014829;vascular smooth muscle contraction;TAS|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048268;clathrin coat assembly;TAS|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;TAS|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2A https://www.uniprot.org/uniprot/O00443 https://hpo.jax.org/app/browse/search?q=PIK3C2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603601 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2A&submit=Quick%0D%557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2A rs6486352 0.364018 0 0 1 0 0 intronic intronic intronic PIK3C2A PIK3C2A ENSG00000011405 Na Na Na Na Na Na Het;A>T 38;2|2 Het;A>T 199;1|7 Hom;A>T 202;0|6 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17191019 17191019 A G snp synonymous SNV T270C I90I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PIK3C2A Pik3c2a ENSG00000011405 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha chr11:17099277-17229530 The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; prostate cancer; Carcinoma, Squamous Cell|Gingival Neoplasms|Mandibular Neoplasms|Mouth Neoplasms|Squamous cell carcinoma|Tongue Neoplasms; Schizophrenia; Tobacco Use Disorder; Endometrial Neoplasms Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. Clathrin-mediated endocytosis GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014829;vascular smooth muscle contraction;TAS|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048268;clathrin coat assembly;TAS|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;TAS|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2A https://www.uniprot.org/uniprot/O00443 https://hpo.jax.org/app/browse/search?q=PIK3C2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603601 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2A&submit=Quick%0D%557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2A rs214936 0.364018 0.4353 0.4133 1 0 0 exonic exonic exonic PIK3C2A PIK3C2A ENSG00000011405 synonymous SNV synonymous SNV unknown PIK3C2A:NM_002645:exon1:c.T270C:p.I90I, PIK3C2A:uc010rcx.1:exon2:c.T270C:p.I90I,PIK3C2A:uc001mmq.4:exon1:c.T270C:p.I90I,PIK3C2A:uc009ygv.1:exon2:c.T270C:p.I90I, UNKNOWN Het;A>G 2256;144|101 Het;A>G 3216;120|142 Hom;A>G 7004;2|251 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17333377 17333377 T G snp intronic NUCB2 Nucb2 ENSG00000070081 nucleobindin 2 chr11:17229700-17371521 This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011] Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUCB2 https://www.uniprot.org/uniprot/A0A087WSV8 https://www.ncbi.nlm.nih.gov/omim/?term=608020 http://www.informatics.jax.org/searchtool/Search.do?query=NUCB2&submit=Quick%0D%1342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUCB2 rs12225041 0.253794 0.2293 0.2595 1 0 0 intronic intronic intronic NUCB2 NUCB2 ENSG00000070081 Na Na Na Na Na Na Het;T>G 999;31|42 Het;T>G 336;23|16 Hom;T>G 1309;0|48 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17351873 17351873 T TA indel intronic NUCB2 Nucb2 ENSG00000070081 nucleobindin 2 chr11:17229700-17371521 This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011] Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUCB2 https://www.uniprot.org/uniprot/A0A087WSV8 https://www.ncbi.nlm.nih.gov/omim/?term=608020 http://www.informatics.jax.org/searchtool/Search.do?query=NUCB2&submit=Quick%0D%1342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUCB2 rs34471145 0.259385 0.2361 0.2611 1 0 0 intronic intronic intronic NUCB2 NUCB2 ENSG00000070081 Na Na Na Na Na Na Het;+A 729;28|30 Het;+A 192;35|12 Hom;+A 1165;0|39 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17352477 17352480 TACA T indel nonframeshift substitution 1202_1205T NUCB2 Nucb2 ENSG00000070081 nucleobindin 2 chr11:17229700-17371521 This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011] Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUCB2 https://www.uniprot.org/uniprot/A0A087WSV8 https://www.ncbi.nlm.nih.gov/omim/?term=608020 http://www.informatics.jax.org/searchtool/Search.do?query=NUCB2&submit=Quick%0D%1342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUCB2 rs3842269 0.253594 0.2299 0.2574 1 0 0 exonic exonic exonic NUCB2 NUCB2 ENSG00000070081 nonframeshift substitution nonframeshift substitution unknown NUCB2:NM_005013:exon13:c.1202_1205T, NUCB2:uc009ygz.3:exon10:c.1112_1115T,NUCB2:uc001mmw.3:exon13:c.1202_1205T, UNKNOWN Het;-ACA 1297;45|35 Het;-ACA 1357;25|35 Hom;-ACA 2708;0|61 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17353910 17353910 A C snp ncRNA_exonic AK096475 rs10832765 0.25599 0 0 1 0 0 downstream ncRNA_exonic downstream NUCB2 AK096475 ENSG00000070081 Na Na Na Na Na Na Het;A>C 1650;78|68 Het;A>C 1988;102|89 Hom;A>C 5743;6|204 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17354775 17354775 T G snp ncRNA_exonic AK096475 rs11024256 0.302516 0 0 1 0 0 intergenic ncRNA_exonic intergenic NUCB2(dist=1705),NCR3LG1(dist=18534) AK096475 ENSG00000070081(dist=1017),NONE(dist=NONE) Na Na Na Na Na Na Het;T>G 2551;111|101 Het;T>G 2002;81|86 Hom;T>G 6558;2|230 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17375076 17375076 G A snp intronic NCR3LG1 ENSG00000188211 natural killer cell cytotoxicity receptor 3 ligand 1 chr11:17373273-17398888 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019028;viral capsid;IEA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCR3LG1 https://www.ncbi.nlm.nih.gov/omim/?term=613714 http://www.informatics.jax.org/searchtool/Search.do?query=NCR3LG1&submit=Quick%0D%15988ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR3LG1 rs546094114 0.000399361 0 0 1 0 0 intronic intronic intronic NCR3LG1 NCR3LG1 ENSG00000188211 Na Na Na Na Na Na Het;G>A 232;3|8 Het;G>A 229;4|11 Hom;G>A 370;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17375260 17375263 GGCA G indel intronic NCR3LG1 ENSG00000188211 natural killer cell cytotoxicity receptor 3 ligand 1 chr11:17373273-17398888 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019028;viral capsid;IEA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCR3LG1 https://www.ncbi.nlm.nih.gov/omim/?term=613714 http://www.informatics.jax.org/searchtool/Search.do?query=NCR3LG1&submit=Quick%0D%15988ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR3LG1 rs10535629 0.727037 0 0 1 0 0 intronic intronic intronic NCR3LG1 NCR3LG1 ENSG00000188211 Na Na Na Na Na Na Het;-GCA 239;6|7 Het;-GCA 209;2|6 Hom;-GCA 458;0|11 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17394073 17394073 C G snp UTR3 *14C>G NCR3LG1 ENSG00000188211 natural killer cell cytotoxicity receptor 3 ligand 1 chr11:17373273-17398888 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019028;viral capsid;IEA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCR3LG1 https://www.ncbi.nlm.nih.gov/omim/?term=613714 http://www.informatics.jax.org/searchtool/Search.do?query=NCR3LG1&submit=Quick%0D%15988ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR3LG1 rs10832778 0.732428 0 0.6694 1 0 0 UTR3 UTR3 UTR3 NCR3LG1(NM_001202439:c.*14C>G) NCR3LG1(uc001mmz.4:c.*14C>G) ENSG00000188211(ENST00000338965:c.*14C>G,ENST00000530403:c.*14C>G) Na Na Na Na Na Na Het;C>G 1549;63|68 Het;C>G 767;79|41 Hom;C>G 3599;0|131 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17408025 17408025 A G snp UTR3 *441T>C KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs2285676 0.46885 0 0 1 0 0 UTR3 UTR3 UTR3 KCNJ11(NM_000525:c.*441T>C,NM_001166290:c.*441T>C) KCNJ11(uc001mna.3:c.*441T>C,uc001mnb.4:c.*441T>C) ENSG00000187486(ENST00000528731:c.*441T>C,ENST00000339994:c.*441T>C) Na Na Na Na Na Na Het;A>G 856;63|44 Het;A>G 1554;60|69 Hom;A>G 2951;0|111 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17408251 17408251 G A snp UTR3 *215C>T KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs5210 0.467652 0 0 1 0 0 UTR3 UTR3 UTR3 KCNJ11(NM_000525:c.*215C>T,NM_001166290:c.*215C>T) KCNJ11(uc001mna.3:c.*215C>T,uc001mnb.4:c.*215C>T) ENSG00000187486(ENST00000528731:c.*215C>T,ENST00000339994:c.*215C>T) Na Na Na Na Na Na Het;G>A 657;26|26 Het;G>A 596;27|26 Hom;G>A 1488;0|47 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17408404 17408404 C T snp UTR3 *62G>A KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs5213 0.735823 0 0 1 0 0 UTR3 UTR3 UTR3 KCNJ11(NM_000525:c.*62G>A,NM_001166290:c.*62G>A) KCNJ11(uc001mna.3:c.*62G>A,uc001mnb.4:c.*62G>A) ENSG00000187486(ENST00000528731:c.*62G>A,ENST00000339994:c.*62G>A) Na Na Na Na Na Na Het;C>T 1895;95|79 Het;C>T 1898;46|81 Hom;C>T 4462;0|157 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17408630 17408630 C T snp nonsynonymous SNV G1009A V337I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs5215 0.730631 0.7320 0.6448 0.25 3 12 exonic exonic exonic KCNJ11 KCNJ11 ENSG00000187486 nonsynonymous SNV nonsynonymous SNV unknown KCNJ11:NM_001166290:exon2:c.G748A:p.V250I,KCNJ11:NM_000525:exon1:c.G1009A:p.V337I, KCNJ11:uc001mna.3:exon1:c.G1009A:p.V337I,KCNJ11:uc001mnb.4:exon2:c.G748A:p.V250I, UNKNOWN Het;C>T 2522;92|110 Het;C>T 2055;97|89 Hom;C>T 4462;0|157 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17409069 17409069 G A snp synonymous SNV C309T A103A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs5218 0.227436 0.2229 0.2582 1 0 0 exonic exonic exonic KCNJ11 KCNJ11 ENSG00000187486 synonymous SNV synonymous SNV unknown KCNJ11:NM_001166290:exon2:c.C309T:p.A103A,KCNJ11:NM_000525:exon1:c.C570T:p.A190A, KCNJ11:uc001mna.3:exon1:c.C570T:p.A190A,KCNJ11:uc001mnb.4:exon2:c.C309T:p.A103A, UNKNOWN Het;G>A 1418;90|59 Het;G>A 1412;76|62 Hom;G>A 4019;1|139 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17409572 17409572 T C snp nonsynonymous SNV A67G K23E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs5219 0.737021 0.7381 0.6471 0.25 3 12 exonic exonic exonic KCNJ11 KCNJ11 ENSG00000187486 nonsynonymous SNV nonsynonymous SNV unknown KCNJ11:NM_000525:exon1:c.A67G:p.K23E, KCNJ11:uc001mna.3:exon1:c.A67G:p.K23E, UNKNOWN Het;T>C 1928;118|88 Het;T>C 2211;89|100 Hom;T>C 4670;1|174 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17410144 17410145 CA C indel UTR5 -506_-507delinsG KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs35980606 0 0 0 1 0 0 UTR5 UTR5 UTR5 KCNJ11(NM_000525:c.-506_-507delinsG) KCNJ11(uc001mna.3:c.-506_-507delinsG) ENSG00000187486(ENST00000339994:c.-506_-507delinsG) Na Na Na Na Na Na Het;-A 726;28|35 Het;-A 965;42|47 Hom;-A 2008;0|76 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17410283 17410283 C T snp intronic KCNJ11 Kcnj11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 rs5222 0.46845 0 0 1 0 0 intronic intronic intronic KCNJ11 KCNJ11 ENSG00000187486 Na Na Na Na Na Na Het;C>T 521;13|23 Het;C>T 392;19|18 Hom;C>T 1129;0|42 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17414757 17414757 C T snp intronic ABCC8 Abcc8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 rs41282912 0.115216 0 0 1 0 0 intronic intronic intronic ABCC8 ABCC8 ENSG00000006071 Na Na Na Na Na Na Het;C>T 732;18|21 Het;C>T 285;15|9 Hom;C>T 1191;0|31 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17414777 17414778 AG A indel intronic ABCC8 Abcc8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 rs1799731 0.261182 0 0 1 0 0 intronic intronic intronic ABCC8 ABCC8 ENSG00000006071 Na Na Na Na Na Na Het;-G 641;12|17 Het;-G 266;10|8 Hom;-G 970;0|21 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17415190 17415190 C G snp intronic ABCC8 Abcc8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 rs4148646 0.73103 0.7280 0 1 0 0 intronic intronic intronic ABCC8 ABCC8 ENSG00000006071 Na Na Na Na Na Na Het;C>G 266;22|14 Het;C>G 305;16|16 Hom;C>G 667;0|24 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17418477 17418477 C A snp nonsynonymous SNV G4105T A1369S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ABCC8 Abcc8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 rs757110 0.726438 0.7386 0.6431 0.15 2 13 exonic exonic exonic ABCC8 ABCC8 ENSG00000006071 nonsynonymous SNV nonsynonymous SNV unknown ABCC8:NM_000352:exon33:c.G4105T:p.A1369S,ABCC8:NM_001287174:exon33:c.G4108T:p.A1370S, ABCC8:uc001mnc.3:exon33:c.G4105T:p.A1369S, UNKNOWN Het;C>A 1492;88|66 Het;C>A 1828;66|85 Hom;C>A 3559;0|129 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17448704 17448704 G A snp intronic ABCC8 Abcc8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 rs1799854 0.368411 0.3536 0.4346 1 0 0 intronic intronic intronic ABCC8 ABCC8 ENSG00000006071 Na Na Na Na Na Na Het;G>A 1006;57|51 Het;G>A 1394;33|58 Hom;G>A 2552;0|100 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17498869 17498869 T TGTG indel upstream ABCC8 Abcc8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 rs34151644 0.363618 0 0 1 0 0 upstream upstream upstream ABCC8 ABCC8 ENSG00000006071 Na Na Na Na Na Na Het;+GTG 41;2|2 Ref Hom;+GTG 548;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17517235 17517235 A G snp intronic USH1C Ush1c ENSG00000006611 USH1 protein network component harmonin chr11:17515442-17565963 This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Usher Syndromes; Tobacco Use Disorder; Retinal Diseases; Usher syndrome; usher syndrome Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling. GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030046;parallel actin filament bundle assembly;ISS|GO:0030154;cell differentiation;IEA|GO:0032532;regulation of microvillus length;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042491;auditory receptor cell differentiation;ISS|GO:0043623;cellular protein complex assembly;IDA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051017;actin filament bundle assembly;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS|GO:1904106;protein localization to microvillus;IMP|GO:1904970;brush border assembly;IMP GO:0001750;photoreceptor outer segment;ISS|GO:0001917;photoreceptor inner segment;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0032420;stereocilium;TAS|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IDA|GO:0045202;synapse;ISS GO:0005515;protein binding;IPI|GO:0030507;spectrin binding;IDA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USH1C https://www.uniprot.org/uniprot/Q9Y6N9 https://hpo.jax.org/app/browse/search?q=USH1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605242 http://www.informatics.jax.org/searchtool/Search.do?query=USH1C&submit=Quick%0D%409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USH1C rs10832795 0.369808 0.3521 0.4062 1 0 0 intronic intronic intronic USH1C USH1C ENSG00000006611 Na Na Na Na Na Na Het;A>G 1101;51|48 Het;A>G 867;47|44 Hom;A>G 2882;2|106 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17518180 17518180 T C snp intronic USH1C Ush1c ENSG00000006611 USH1 protein network component harmonin chr11:17515442-17565963 This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Usher Syndromes; Tobacco Use Disorder; Retinal Diseases; Usher syndrome; usher syndrome Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling. GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030046;parallel actin filament bundle assembly;ISS|GO:0030154;cell differentiation;IEA|GO:0032532;regulation of microvillus length;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042491;auditory receptor cell differentiation;ISS|GO:0043623;cellular protein complex assembly;IDA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051017;actin filament bundle assembly;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS|GO:1904106;protein localization to microvillus;IMP|GO:1904970;brush border assembly;IMP GO:0001750;photoreceptor outer segment;ISS|GO:0001917;photoreceptor inner segment;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0032420;stereocilium;TAS|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IDA|GO:0045202;synapse;ISS GO:0005515;protein binding;IPI|GO:0030507;spectrin binding;IDA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USH1C https://www.uniprot.org/uniprot/Q9Y6N9 https://hpo.jax.org/app/browse/search?q=USH1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605242 http://www.informatics.jax.org/searchtool/Search.do?query=USH1C&submit=Quick%0D%409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USH1C rs2072229 0.203275 0 0 1 0 0 intronic intronic intronic USH1C USH1C ENSG00000006611 Na Na Na Na Na Na Het;T>C 468;13|15 Het;T>C 290;9|10 Hom;T>C 254;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17518525 17518525 G T snp intronic USH1C Ush1c ENSG00000006611 USH1 protein network component harmonin chr11:17515442-17565963 This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Usher Syndromes; Tobacco Use Disorder; Retinal Diseases; Usher syndrome; usher syndrome Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling. GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030046;parallel actin filament bundle assembly;ISS|GO:0030154;cell differentiation;IEA|GO:0032532;regulation of microvillus length;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042491;auditory receptor cell differentiation;ISS|GO:0043623;cellular protein complex assembly;IDA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051017;actin filament bundle assembly;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS|GO:1904106;protein localization to microvillus;IMP|GO:1904970;brush border assembly;IMP GO:0001750;photoreceptor outer segment;ISS|GO:0001917;photoreceptor inner segment;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0032420;stereocilium;TAS|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IDA|GO:0045202;synapse;ISS GO:0005515;protein binding;IPI|GO:0030507;spectrin binding;IDA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USH1C https://www.uniprot.org/uniprot/Q9Y6N9 https://hpo.jax.org/app/browse/search?q=USH1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605242 http://www.informatics.jax.org/searchtool/Search.do?query=USH1C&submit=Quick%0D%409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USH1C rs2072230 0.380391 0 0 1 0 0 intronic intronic intronic USH1C USH1C ENSG00000006611 Na Na Na Na Na Na Het;G>T 47;11|3 Het;G>T 97;5|4 Hom;G>T 349;0|10 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17580050 17580050 A C snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs7130051 0.133387 0 0.1330 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;A>C 1063;39|41 Het;A>C 681;54|31 Hom;A>C 1820;1|64 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17580175 17580175 A T snp nonsynonymous SNV A1123T T375S polar,hydrophilic,neutral polar,hydrophilic,neutral OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs7130190 0.086262 0 0.1203 0.30 3 10 exonic exonic exonic OTOG OTOG ENSG00000188162 nonsynonymous SNV nonsynonymous SNV unknown OTOG:NM_001277269:exon9:c.A1123T:p.T375S,OTOG:NM_001292063:exon10:c.A1087T:p.T363S, OTOG:uc031pzc.1:exon9:c.A1123T:p.T375S, UNKNOWN Het;A>T 1826;100|87 Het;A>T 1506;58|71 Hom;A>T 2895;1|110 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17583423 17583423 G A snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs4757545 0.124601 0 0 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;G>A 494;14|18 Het;G>A 301;16|13 Hom;G>A 848;0|26 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17631047 17631047 G A snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs61880560 0.0980431 0 0 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;G>A 250;4|8 Ref Hom;G>A 239;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17632306 17632306 C T snp nonsynonymous SNV C5495T A1832V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs1003490 0.0978435 0 0.1234 0.54 7 13 exonic exonic exonic OTOG OTOG ENSG00000188162 nonsynonymous SNV nonsynonymous SNV unknown OTOG:NM_001277269:exon35:c.C5495T:p.A1832V,OTOG:NM_001292063:exon36:c.C5459T:p.A1820V, OTOG:uc031pzc.1:exon35:c.C5495T:p.A1832V,OTOG:uc001mnh.1:exon12:c.C2513T:p.A838V, UNKNOWN Het;C>T 4082;189|179 Het;C>T 2887;125|131 Hom;C>T 7046;6|264 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17653572 17653572 A G snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs2058003 0.236821 0 0 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;A>G 834;53|31 Het;A>G 694;27|29 Hom;A>G 1868;1|57 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17655839 17655839 A T snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs12277962 0.105232 0 0.1249 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;A>T 776;40|35 Het;A>T 1199;37|54 Hom;A>T 1473;0|52 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17660181 17660181 G A snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs12290375 0.0698882 0 0 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;G>A 1057;34|40 Het;G>A 840;17|33 Hom;G>A 1536;0|50 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17662800 17662800 A G snp intronic OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs12281125 0.289736 0 0 1 0 0 intronic intronic intronic OTOG OTOG ENSG00000188162 Na Na Na Na Na Na Het;A>G 198;12|7 Het;A>G 263;3|8 Hom;A>G 300;0|9 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17663416 17663416 G A snp nonsynonymous SNV G8249A R2750Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral OTOG Otog ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG rs12422210 0.0828674 0 0.1576 0.10 1 10 exonic exonic exonic OTOG OTOG ENSG00000188162 nonsynonymous SNV nonsynonymous SNV unknown OTOG:NM_001277269:exon51:c.G8249A:p.R2750Q,OTOG:NM_001292063:exon52:c.G8213A:p.R2738Q, OTOG:uc031pzc.1:exon51:c.G8249A:p.R2750Q, UNKNOWN Het;G>A 2473;94|106 Het;G>A 1258;62|64 Hom;G>A 3085;0|111 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17717451 17717451 A AGGGCCG indel ncRNA_intronic AC124301.1 rs201546786 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic OTOG(dist=49960),MYOD1(dist=23659) OTOG(dist=49960),MYOD1(dist=23659) ENSG00000254586,ENSG00000255335 Na Na Na Na Na Na Het;+GGGCCG 347;8|11 Het;+GGGCCG 206;10|7 Hom;+GGGCCG 863;0|19 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17717541 17717541 G T snp ncRNA_intronic AC124301.1 rs61880586 0.217053 0 0 1 0 0 intergenic intergenic ncRNA_intronic OTOG(dist=50050),MYOD1(dist=23569) OTOG(dist=50050),MYOD1(dist=23569) ENSG00000254586,ENSG00000255335 Na Na Na Na Na Na Het;G>T 67;6|5 Het;G>T 78;3|4 Hom;G>T 332;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17718570 17718570 A G snp ncRNA_exonic AC124301.1 rs10766420 0.19369 0 0 1 0 0 intergenic intergenic ncRNA_exonic OTOG(dist=51079),MYOD1(dist=22540) OTOG(dist=51079),MYOD1(dist=22540) ENSG00000254586 Na Na Na Na Na Na Het;A>G 259;15|13 Het;A>G 192;10|9 Hom;A>G 354;0|14 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17760645 17760645 C T snp intronic KCNC1 Kcnc1 ENSG00000129159 potassium voltage-gated channel subfamily C member 1 chr11:17756359-17804602 This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014] Type 2 Diabetes| edema | rosiglitazone Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007420;brain development;IEA|GO:0009636;response to toxic substance;IEA|GO:0009642;response to light intensity;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0014075;response to amine;IEA|GO:0021549;cerebellum development;IEA|GO:0021759;globus pallidus development;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0034767;positive regulation of ion transmembrane transport;IEA|GO:0035690;cellular response to drug;IEA|GO:0035864;response to potassium ion;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051262;protein tetramerization;IDA|GO:0055085;transmembrane transport;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1990089;response to nerve growth factor;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0030673;axolemma;IEA|GO:0032589;neuron projection membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0032809;neuronal cell body membrane;ISS|GO:0043025;neuronal cell body;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005251;delayed rectifier potassium channel activity;ISS|GO:0005267;potassium channel activity;IEA|GO:0019894;kinesin binding;IEA|GO:0044325;ion channel binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNC1 https://www.uniprot.org/uniprot/P48547 https://hpo.jax.org/app/browse/search?q=KCNC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176258 http://www.informatics.jax.org/searchtool/Search.do?query=KCNC1&submit=Quick%0D%6220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNC1 rs116912320 0.0123802 0 0 1 0 0 intronic intronic intronic KCNC1 KCNC1 ENSG00000129159 Na Na Na Na Na Na Het;C>T 50;3|4 Ref Hom;C>T 169;0|8 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 17793200 17793200 T C snp intronic KCNC1 Kcnc1 ENSG00000129159 potassium voltage-gated channel subfamily C member 1 chr11:17756359-17804602 This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014] Type 2 Diabetes| edema | rosiglitazone Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007420;brain development;IEA|GO:0009636;response to toxic substance;IEA|GO:0009642;response to light intensity;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0014075;response to amine;IEA|GO:0021549;cerebellum development;IEA|GO:0021759;globus pallidus development;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0034767;positive regulation of ion transmembrane transport;IEA|GO:0035690;cellular response to drug;IEA|GO:0035864;response to potassium ion;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051262;protein tetramerization;IDA|GO:0055085;transmembrane transport;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1990089;response to nerve growth factor;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0030673;axolemma;IEA|GO:0032589;neuron projection membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0032809;neuronal cell body membrane;ISS|GO:0043025;neuronal cell body;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005251;delayed rectifier potassium channel activity;ISS|GO:0005267;potassium channel activity;IEA|GO:0019894;kinesin binding;IEA|GO:0044325;ion channel binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNC1 https://www.uniprot.org/uniprot/P48547 https://hpo.jax.org/app/browse/search?q=KCNC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176258 http://www.informatics.jax.org/searchtool/Search.do?query=KCNC1&submit=Quick%0D%6220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNC1 rs751102079 0 0 3.505e-05 1 0 0 intronic intronic intronic KCNC1 KCNC1 ENSG00000129159 Na Na Na Na Na Na Het;T>C 1054;41|40 Het;T>C 1612;21|58 Hom;T>C 1156;2|40 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18159254 18159254 A G snp nonsynonymous SNV A505G N169D polar,hydrophilic,neutral polar,hydrophilic,charged(-) MRGPRX3 Mrgpra9 ENSG00000179826 MAS related GPR family member X3 chr11:18142502-18160027 This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009] GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX3 https://www.ncbi.nlm.nih.gov/omim/?term=607229 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX3&submit=Quick%0D%14387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX3 rs4274188 0.743011 0.7042 0.7697 0.08 1 13 exonic exonic exonic MRGPRX3 MRGPRX3 ENSG00000179826 nonsynonymous SNV nonsynonymous SNV unknown MRGPRX3:NM_054031:exon3:c.A505G:p.N169D, MRGPRX3:uc021qek.1:exon1:c.A505G:p.N169D,MRGPRX3:uc001mnu.3:exon3:c.A505G:p.N169D, UNKNOWN Het;A>G 2833;112|117 Het;A>G 2314;98|98 Hom;A>G 6042;0|207 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18194793 18194793 G A snp UTR5 -11G>A MRGPRX4 Mrgprx1 ENSG00000179817 MAS related GPR family member X4 chr11:18194384-18195827 Tobacco Use Disorder GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX4 https://www.ncbi.nlm.nih.gov/omim/?term=607230 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX4&submit=Quick%0D%14385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX4 rs11024530 0.26877 0.2093 0.2857 1 0 0 UTR5 UTR5 UTR5 MRGPRX4(NM_054032:c.-11G>A) MRGPRX4(uc001mnv.1:c.-11G>A) ENSG00000179817(ENST00000314254:c.-11G>A) Na Na Na Na Na Na Het;G>A 514;51|27 Het;G>A 528;75|33 Hom;G>A 2087;0|79 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18194944 18194944 T A snp synonymous SNV T141A V47V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MRGPRX4 Mrgprx1 ENSG00000179817 MAS related GPR family member X4 chr11:18194384-18195827 Tobacco Use Disorder GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX4 https://www.ncbi.nlm.nih.gov/omim/?term=607230 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX4&submit=Quick%0D%14385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX4 rs11024531 0.274361 0.2145 0.2824 1 0 0 exonic exonic exonic MRGPRX4 MRGPRX4 ENSG00000179817 synonymous SNV synonymous SNV unknown MRGPRX4:NM_054032:exon1:c.T141A:p.V47V, MRGPRX4:uc001mnv.1:exon1:c.T141A:p.V47V, UNKNOWN Het;T>A 701;18|28 Het;T>A 226;23|11 Hom;T>A 1565;0|50 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18230711 18230711 T A snp ncRNA_exonic LOC494141 rs2468790 0.478435 0 0 1 0 0 ncRNA_exonic UTR5 UTR5 LOC494141 LOC494141(uc009yhh.4:c.-504T>A) ENSG00000189332(ENST00000340135:c.-504T>A,ENST00000534640:c.-504T>A) Na Na Na Na Na Na Het;T>A 1032;64|50 Het;T>A 1011;41|49 Hom;T>A 2279;2|88 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18231915 18231915 T C snp ncRNA_exonic LOC494141 rs2251440 0.360224 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LOC494141 LOC494141(uc009yhh.4:c.*236T>C) ENSG00000189332(ENST00000340135:c.*236T>C,ENST00000534640:c.*236T>C,ENST00000527059:c.*236T>C) Na Na Na Na Na Na Het;T>C 3704;152|151 Het;T>C 4414;181|201 Hom;T>C 10709;0|392 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18267702 18267702 T A snp ncRNA_intronic SAA2-SAA4 Saa4 ENSG00000255071 SAA2-SAA4 readthrough chr11:18252970-18270182 This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA GO:0042056;chemoattractant activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAA2-SAA4 http://www.informatics.jax.org/searchtool/Search.do?query=SAA2-SAA4&submit=Quick%0D%20105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2-SAA4 rs4757631 0.487819 0 0 1 0 0 intronic intronic ncRNA_intronic SAA2,SAA2-SAA4 SAA2,SAA2-SAA4 ENSG00000255071 Na Na Na Na Na Na Het;T>A 114;13|6 Het;T>A 421;8|16 Hom;T>A 618;0|18 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18333061 18333061 T A snp intronic HPS5 Hps5 ENSG00000110756 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 chr11:18300223-18343745 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Metabolism; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. GO:0006996;organelle organization;IEA|GO:0007596;blood coagulation;IEA|GO:0043473;pigmentation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS5 https://www.uniprot.org/uniprot/Q9UPZ3 https://hpo.jax.org/app/browse/search?q=HPS5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607521 http://www.informatics.jax.org/searchtool/Search.do?query=HPS5&submit=Quick%0D%3989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS5 rs11024618 0 0 0 1 0 0 intronic intronic intronic HPS5 HPS5 ENSG00000110756 Na Na Na Na Na Na Het;T>A 128;14|11 Ref Hom;T>A 274;0|11 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18487305 18487305 C G snp synonymous SNV C366G P122P hydrophobic,neutral hydrophobic,neutral LDHAL6A Ldhal6b ENSG00000166800 lactate dehydrogenase A like 6A chr11:18477371-18501147 Pyruvate metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDHAL6A http://www.informatics.jax.org/searchtool/Search.do?query=LDHAL6A&submit=Quick%0D%11866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHAL6A rs17851143 0.0874601 0.1132 0.1147 1 0 0 exonic exonic exonic LDHAL6A LDHAL6A ENSG00000166800 synonymous SNV synonymous SNV unknown LDHAL6A:NM_144972:exon3:c.C366G:p.P122P,LDHAL6A:NM_001144071:exon4:c.C366G:p.P122P, LDHAL6A:uc001mop.1:exon4:c.C366G:p.P122P,LDHAL6A:uc001moq.2:exon3:c.C366G:p.P122P, UNKNOWN Het;C>G 1841;88|87 Het;C>G 1297;76|63 Hom;C>G 5043;3|193 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18487404 18487404 A G snp intronic LDHAL6A Ldhal6b ENSG00000166800 lactate dehydrogenase A like 6A chr11:18477371-18501147 Pyruvate metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDHAL6A http://www.informatics.jax.org/searchtool/Search.do?query=LDHAL6A&submit=Quick%0D%11866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHAL6A rs72870279 0.103834 0.1383 0.1563 1 0 0 intronic intronic intronic LDHAL6A LDHAL6A ENSG00000166800 Na Na Na Na Na Na Het;A>G 914;30|36 Het;A>G 562;30|29 Hom;A>G 2017;0|72 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18528245 18528245 T A snp intronic TSG101 Tsg101 ENSG00000074319 tumor susceptibility 101 chr11:18489883-18548779 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008] Hepatitis C|Remission, Spontaneous; Platelet Count; lung cancer ; bladder cancer; lung cancer; chronic obstructive pulmonary disease Homozygotes for targeted null mutations exhibit reduced growth, fail to form mesoderm, accumulate p53 protein and die by embryonic day 6.5. Homozygotes for a mammary gland-specific knockout show impaired mammogenesis and are unable to nurse their pups. Endosomal Sorting Complex Required For Transport (ESCRT) GO:0001558;regulation of cell growth;IEA|GO:0006464;cellular protein modification process;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006810;transport;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008333;endosome to lysosome transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;TAS|GO:0040008;regulation of growth;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IC|GO:0043405;regulation of MAP kinase activity;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046755;viral budding;IMP|GO:0048524;positive regulation of viral process;IMP|GO:0051301;cell division;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0097352;autophagosome maturation;TAS|GO:1902188;positive regulation of viral release from host cell;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903772;regulation of viral budding via host ESCRT complex;IMP|GO:1903774;positive regulation of viral budding via host ESCRT complex;IMP|GO:1990182;exosomal secretion;IEA|GO:2000397;positive regulation of ubiquitin-dependent endocytosis;IEA GO:0000813;ESCRT I complex;TAS|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IMP|GO:0005771;multivesicular body;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003677;DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;TAS|GO:0046790;virion binding;IDA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSG101 https://www.uniprot.org/uniprot/Q99816 https://www.ncbi.nlm.nih.gov/omim/?term=601387 http://www.informatics.jax.org/searchtool/Search.do?query=TSG101&submit=Quick%0D%1499ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSG101 rs72871738 0.197484 0 0 1 0 0 intronic intronic intronic TSG101 TSG101 ENSG00000074319 Na Na Na Na Na Na Het;T>A 135;4|5 Ref Hom;T>A 118;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18591992 18591992 G A snp intronic UEVLD Uevld ENSG00000151116 UEV and lactate/malate dehyrogenase domains chr11:18551156-18610294 GO:0005975;carbohydrate metabolic process;IEA|GO:0006464;cellular protein modification process;IEA|GO:0008150;biological_process;ND|GO:0015031;protein transport;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/UEVLD https://www.uniprot.org/uniprot/Q8IX04 https://www.ncbi.nlm.nih.gov/omim/?term=610985 http://www.informatics.jax.org/searchtool/Search.do?query=UEVLD&submit=Quick%0D%9381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UEVLD rs16935557 0.0892572 0 0 1 0 0 intronic intronic intronic UEVLD UEVLD ENSG00000151116 Na Na Na Na Na Na Het;G>A 342;17|15 Het;G>A 231;7|9 Hom;G>A 625;0|20 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18631650 18631650 A G snp ncRNA_exonic SPTY2D1-AS1 ENSG00000247595 chr11:18621334-18631802 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTY2D1-AS1 http://www.informatics.jax.org/searchtool/Search.do?query=SPTY2D1-AS1&submit=Quick%0D%19875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTY2D1-AS1 rs75690693 0.0716853 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SPTY2D1-AS1 SPTY2D1-AS1 ENSG00000247595 Na Na Na Na Na Na Het;A>G 1888;77|83 Het;A>G 1134;71|54 Hom;A>G 3986;0|144 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18730895 18730895 A G snp ncRNA_intronic AC103974.1 rs11024768 0.61861 0.6379 0.6835 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;A>G 958;32|39 Het;A>G 967;20|36 Hom;A>G 1505;0|54 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18733521 18733521 C T snp ncRNA_intronic AC103974.1 rs7128042 0.704872 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;C>T 42;2|2 Het;C>T 124;4|6 Hom;C>T 139;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18733579 18733579 T C snp ncRNA_intronic AC103974.1 rs10832972 0.704673 0.7140 0.7017 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;T>C 333;9|14 Het;T>C 248;12|11 Hom;T>C 576;0|21 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18735321 18735321 A C snp ncRNA_intronic AC103974.1 rs10766493 0.75639 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;A>C 246;8|8 Het;A>C 59;10|3 Hom;A>C 223;0|6 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18735396 18735396 G T snp ncRNA_intronic AC103974.1 rs10741752 0.75639 0.7757 0.7541 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;G>T 683;32|28 Het;G>T 467;29|23 Hom;G>T 1272;0|43 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18735753 18735753 G A snp ncRNA_intronic AC103974.1 rs7106673 0.754393 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;G>A 1085;50|43 Het;G>A 1074;49|45 Hom;G>A 2224;0|78 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18735947 18735947 T C snp nonsynonymous SNV A1675G M559V hydrophobic,neutral aliphatic,hydrophobic,neutral IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 rs7125943 0.75619 0.7713 0.7413 0.15 2 13 exonic exonic exonic IGSF22 IGSF22 ENSG00000179057 nonsynonymous SNV nonsynonymous SNV unknown IGSF22:NM_173588:exon13:c.A1675G:p.M559V, IGSF22:uc009yht.2:exon13:c.A1675G:p.M559V, UNKNOWN Het;T>C 2365;126|108 Het;T>C 2296;94|103 Hom;T>C 5588;0|204 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18736247 18736247 G A snp ncRNA_intronic AC103974.1 rs4265581 0.752596 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;G>A 999;26|34 Het;G>A 893;23|35 Hom;G>A 1600;0|51 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18736877 18736877 A G snp ncRNA_intronic AC103974.1 rs4993024 0.747404 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;A>G 186;7|7 Het;A>G 166;3|6 Hom;A>G 199;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18736942 18736942 G A snp ncRNA_intronic AC103974.1 rs3887900 0.61881 0.6334 0.6796 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;G>A 640;21|23 Het;G>A 482;30|21 Hom;G>A 1027;0|34 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18737095 18737095 C T snp nonsynonymous SNV G1415A R472Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 rs4424652 0.749401 0.7576 0.7349 0.23 3 13 exonic exonic exonic IGSF22 IGSF22 ENSG00000179057 nonsynonymous SNV nonsynonymous SNV unknown IGSF22:NM_173588:exon11:c.G1415A:p.R472Q, IGSF22:uc009yht.2:exon11:c.G1415A:p.R472Q, UNKNOWN Het;C>T 2319;113|104 Het;C>T 1646;102|79 Hom;C>T 5306;0|198 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18738281 18738281 C T snp nonsynonymous SNV G1240A V414I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 rs10766494 0.749002 0.7605 0.7349 0.23 3 13 exonic exonic exonic IGSF22 IGSF22 ENSG00000179057 nonsynonymous SNV nonsynonymous SNV unknown IGSF22:NM_173588:exon10:c.G1240A:p.V414I, IGSF22:uc009yht.2:exon10:c.G1240A:p.V414I, UNKNOWN Het;C>T 459;30|21 Het;C>T 496;22|24 Hom;C>T 999;1|36 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18738603 18738603 G A snp ncRNA_intronic AC103974.1 rs10766495 0.7498 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;G>A 866;32|36 Het;G>A 1134;22|44 Hom;G>A 1285;0|43 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18738718 18738718 A G snp ncRNA_intronic AC103974.1 rs10766496 0.750799 0 0 1 0 0 intronic intronic ncRNA_intronic IGSF22 IGSF22 ENSG00000254966 Na Na Na Na Na Na Het;A>G 194;4|7 Het;A>G 195;1|6 Hom;A>G 134;0|4 N N - 11 1888341 1888341 A G snp intronic LSP1 Lsp1 ENSG00000130592 lymphocyte-specific protein 1 chr13:25591541-25591675 This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Breast cancer; Inflammation|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; breast cancer; ovarian cancer; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Colitis, Ulcerative; Alcoholism Homozygotes for a targeted null mutation exhibit increased numbers of resident peritoneal macrophages and reduced numbers of peritoneal lymphocytes. Mutant neutrophils show abnormal morphology and impaired chemokine-induced migration. GO:0006928;movement of cell or subcellular component;TAS|GO:0006935;chemotaxis;IEA|GO:0006952;defense response;IEA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;TAS|GO:0004871;signal transducer activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LSP1 https://www.uniprot.org/uniprot/P33241 https://www.ncbi.nlm.nih.gov/omim/?term=153432 http://www.informatics.jax.org/searchtool/Search.do?query=LSP1&submit=Quick%0D%6398ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSP1 rs12801875 0.803115 0 0 1 0 0 intronic intronic intronic LSP1 LSP1 ENSG00000130592 Na Na Na Na Na Na Het;A>G 124;2|5 Ref Hom;A>G 112;0|5 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18892620 18892620 T C snp ncRNA_exonic AC023078.6 rs4482009 0.64976 0 0 1 0 0 intergenic intergenic ncRNA_exonic PTPN5(dist=78352),MRGPRX1(dist=62740) PTPN5(dist=78352),MRGPRX1(dist=62740) ENSG00000255511 Na Na Na Na Na Na Het;T>C 259;25|13 Het;T>C 288;13|12 Hom;T>C 904;0|29 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18893056 18893056 T A snp ncRNA_exonic AC023078.6 rs2035443 0.64996 0 0 1 0 0 intergenic intergenic ncRNA_exonic PTPN5(dist=78788),MRGPRX1(dist=62304) PTPN5(dist=78788),MRGPRX1(dist=62304) ENSG00000255511 Na Na Na Na Na Na Het;T>A 83;9|6 Ref Hom;T>A 312;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18909134 18909134 C T snp ncRNA_exonic AC023078.2 rs12363823 0.280751 0 0 1 0 0 intergenic intergenic ncRNA_exonic PTPN5(dist=94866),MRGPRX1(dist=46226) PTPN5(dist=94866),MRGPRX1(dist=46226) ENSG00000254541 Na Na Na Na Na Na Het;C>T 448;18|18 Het;C>T 400;20|19 Hom;C>T 977;0|37 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18932316 18932316 C T snp ncRNA_exonic AC023078.7 rs1552199 0.35623 0 0 1 0 0 intergenic intergenic ncRNA_exonic PTPN5(dist=118048),MRGPRX1(dist=23044) PTPN5(dist=118048),MRGPRX1(dist=23044) ENSG00000255536 Na Na Na Na Na Na Het;C>T 451;15|21 Het;C>T 224;9|11 Hom;C>T 740;0|28 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18933049 18933049 C T snp upstream AC023078.7 rs1817503 0.355032 0 0 1 0 0 intergenic intergenic upstream PTPN5(dist=118781),MRGPRX1(dist=22311) PTPN5(dist=118781),MRGPRX1(dist=22311) ENSG00000255536 Na Na Na Na Na Na Het;C>T 166;8|6 Het;C>T 224;9|11 Hom;C>T 475;0|15 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18956194 18956194 T C snp synonymous SNV A138G A46A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MRGPRX1 Mrgprb2 ENSG00000170255 MAS related GPR family member X1 chr11:18955360-18961054 Luteinizing Hormone Mice homozygous for a knock-out allele exhibit impaired mast cell activation and inflammatory response after 48/80 treatment. GO:0006953;acute-phase response;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX1 https://www.ncbi.nlm.nih.gov/omim/?term=607227 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX1&submit=Quick%0D%12657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX1 rs2014931 0.363219 0.3720 0.3901 1 0 0 exonic exonic exonic MRGPRX1 MRGPRX1 ENSG00000170255 synonymous SNV synonymous SNV unknown MRGPRX1:NM_147199:exon1:c.A138G:p.A46A, MRGPRX1:uc001mpg.3:exon1:c.A138G:p.A46A, UNKNOWN Het;T>C 2347;50|90 Het;T>C 1606;30|60 Hom;T>C 1560;0|52 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18977980 18977980 A C snp ncRNA_exonic AC023078.4 rs7105240 0.426717 0 0 1 0 0 intergenic intergenic ncRNA_exonic MRGPRX1(dist=21431),MRGPRX2(dist=98023) MRGPRX1(dist=21431),MRGPRX2(dist=98023) ENSG00000254738 Na Na Na Na Na Na Het;A>C 501;20|20 Het;A>C 641;17|30 Hom;A>C 681;0|26 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18978096 18978096 C T snp ncRNA_exonic AC023078.4 rs10833023 0.358826 0 0 1 0 0 intergenic intergenic ncRNA_exonic MRGPRX1(dist=21547),MRGPRX2(dist=97907) MRGPRX1(dist=21547),MRGPRX2(dist=97907) ENSG00000254738 Na Na Na Na Na Na Het;C>T 635;22|28 Het;C>T 646;18|25 Hom;C>T 955;0|35 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18978302 18978302 G C snp ncRNA_exonic AC023078.4 rs11024909 0.358626 0 0 1 0 0 intergenic intergenic ncRNA_exonic MRGPRX1(dist=21753),MRGPRX2(dist=97701) MRGPRX1(dist=21753),MRGPRX2(dist=97701) ENSG00000254738 Na Na Na Na Na Na Het;G>C 371;7|10 Het;G>C 162;7|6 Hom;G>C 548;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18978303 18978303 G A snp ncRNA_exonic AC023078.4 rs11024910 0.358626 0 0 1 0 0 intergenic intergenic ncRNA_exonic MRGPRX1(dist=21754),MRGPRX2(dist=97700) MRGPRX1(dist=21754),MRGPRX2(dist=97700) ENSG00000254738 Na Na Na Na Na Na Het;G>A 371;7|10 Het;G>A 162;7|4 Hom;G>A 548;0|12 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 18978456 18978456 G A snp ncRNA_exonic AC023078.4 rs7106147 0.358826 0 0 1 0 0 intergenic intergenic ncRNA_exonic MRGPRX1(dist=21907),MRGPRX2(dist=97547) MRGPRX1(dist=21907),MRGPRX2(dist=97547) ENSG00000254738 Na Na Na Na Na Na Het;G>A 112;6|6 Het;G>A 140;7|7 Hom;G>A 158;0|7 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19251289 19251289 C G snp synonymous SNV G1605C T535T polar,hydrophilic,neutral polar,hydrophilic,neutral E2F8 E2f8 ENSG00000129173 E2F transcription factor 8 chr11:19245610-19263167 This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] Mice homozygous for a knock-out allele develop normally through puberty and live to old age. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001890;placenta development;ISS|GO:0002040;sprouting angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;IEA|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032877;positive regulation of DNA endoreduplication;ISS|GO:0033301;cell cycle comprising mitosis without cytokinesis;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060707;trophoblast giant cell differentiation;ISS|GO:0060718;chorionic trophoblast cell differentiation;ISS|GO:0070365;hepatocyte differentiation;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0003714;transcription corepressor activity;ISS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/E2F8 https://www.uniprot.org/uniprot/A0AVK6 https://www.ncbi.nlm.nih.gov/omim/?term=612047 http://www.informatics.jax.org/searchtool/Search.do?query=E2F8&submit=Quick%0D%6223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F8 rs12273001 0.107428 0.1058 0.0671 1 0 0 exonic exonic exonic E2F8 E2F8 ENSG00000129173 synonymous SNV synonymous SNV unknown E2F8:NM_024680:exon10:c.G1605C:p.T535T,E2F8:NM_001256372:exon10:c.G1605C:p.T535T,E2F8:NM_001256371:exon10:c.G1605C:p.T535T, E2F8:uc001mpo.2:exon10:c.G1605C:p.T535T,E2F8:uc001mpm.3:exon10:c.G1605C:p.T535T,E2F8:uc001mpn.5:exon10:c.G1605C:p.T535T, UNKNOWN Het;C>G 2185;112|99 Het;C>G 1812;95|86 Hom;C>G 5836;2|213 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19251704 19251704 G A snp ncRNA_intronic AC009652.2 rs12273302 0.0990415 0 0 1 0 0 intronic intronic ncRNA_intronic E2F8 E2F8 ENSG00000255308 Na Na Na Na Na Na Het;G>A 336;7|11 Het;G>A 186;7|7 Hom;G>A 437;0|14 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19259115 19259115 G A snp ncRNA_intronic AC009652.2 rs11025067 0.155351 0 0 1 0 0 intronic intronic ncRNA_intronic E2F8 E2F8 ENSG00000255308 Na Na Na Na Na Na Het;G>A 940;23|37 Het;G>A 753;22|32 Hom;G>A 873;2|33 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19281169 19281169 A G snp ncRNA_intronic AC009652.2 rs10833083 0.682708 0 0 1 0 0 intergenic intergenic ncRNA_intronic E2F8(dist=17967),NAV2(dist=91102) E2F8(dist=17967),NAV2(dist=91102) ENSG00000255308 Na Na Na Na Na Na Het;A>G 322;4|9 Het;A>G 170;4|5 Hom;A>G 289;0|8 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19545733 19545733 G C snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs2702687 0.440895 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;G>C 82;2|3 Het;G>C 236;5|7 Hom;G>C 267;0|7 N N - 11 1972456 1972456 G C snp intronic MRPL23 Mrpl23 ENSG00000214026 mitochondrial ribosomal protein L23 chr11:1968508-2005752 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008] ovarian cancer | breast cancer ; Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial translation termination GO:0006412;translation;IEA|GO:0032543;mitochondrial translation;IBA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0001650;fibrillar center;IDA|GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;TAS|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MRPL23 https://www.ncbi.nlm.nih.gov/omim/?term=600789 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL23&submit=Quick%0D%18203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL23 rs217203 0.483027 0 0 1 0 0 intronic intronic intronic MRPL23 MRPL23 ENSG00000214026 Na Na Na Na Na Na Het;G>C 75;1|3 Ref Hom;G>C 103;0|4 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19817809 19817809 T C snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs918988 0.559105 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;T>C 352;14|17 Het;T>C 512;15|22 Hom;T>C 1116;0|41 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19955905 19955905 A G snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs16937252 0.267971 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;A>G 802;15|28 Het;A>G 356;16|13 Hom;A>G 1242;0|42 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19955938 19955938 G A snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs79416613 0.268171 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;G>A 517;8|17 Het;G>A 270;11|11 Hom;G>A 707;0|24 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 19967872 19967872 T C snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs67192906 0.167532 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;T>C 430;20|18 Het;T>C 639;22|26 Hom;T>C 1547;0|50 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20099112 20099112 A T snp synonymous SNV A4998T A1666A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs4757028 0.908546 0.8743 0.8957 1 0 0 exonic exonic exonic NAV2 NAV2 ENSG00000166833 synonymous SNV synonymous SNV unknown NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A, NAV2:uc009yhy.1:exon11:c.A1884T:p.A628A,NAV2:uc001mpt.2:exon11:c.A2145T:p.A715A,NAV2:uc009yhz.3:exon7:c.A933T:p.A311A,NAV2:uc001mpu.3:exon5:c.A312T:p.A104A,NAV2:uc031pzj.1:exon25:c.A5166T:p.A1722A,NAV2:uc001mpr.4:exon23:c.A4998T:p.A1666A,NAV2:uc009yhx.4:exon13:c.A2190T:p.A730A,NAV2:uc021qew.1:exon23:c.A4998T:p.A1666A,NAV2:uc010rdm.2:exon25:c.A5166T:p.A1722A,NAV2:uc001mpp.3:exon23:c.A4806T:p.A1602A, UNKNOWN Het;A>T 487;35|25 Het;A>T 276;33|15 Hom;A>T 1606;0|59 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20099449 20099449 C T snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs12146551 0.422125 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;C>T 48;15|4 Het;C>T 195;9|8 Hom;C>T 235;0|8 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20099541 20099541 C T snp synonymous SNV C5070T D1690D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs6483642 0.908347 0.8659 0.8903 1 0 0 exonic exonic exonic NAV2 NAV2 ENSG00000166833 synonymous SNV synonymous SNV unknown NAV2:NM_182964:exon24:c.C5070T:p.D1690D,NAV2:NM_001111019:exon14:c.C2262T:p.D754D,NAV2:NM_145117:exon24:c.C5070T:p.D1690D,NAV2:NM_001111018:exon24:c.C4878T:p.D1626D,NAV2:NM_001244963:exon26:c.C5238T:p.D1746D, NAV2:uc009yhy.1:exon12:c.C1956T:p.D652D,NAV2:uc001mpt.2:exon12:c.C2217T:p.D739D,NAV2:uc009yhz.3:exon8:c.C1005T:p.D335D,NAV2:uc001mpu.3:exon6:c.C384T:p.D128D,NAV2:uc031pzj.1:exon26:c.C5238T:p.D1746D,NAV2:uc001mpr.4:exon24:c.C5070T:p.D1690D,NAV2:uc009yhx.4:exon14:c.C2262T:p.D754D,NAV2:uc021qew.1:exon24:c.C5070T:p.D1690D,NAV2:uc010rdm.2:exon26:c.C5238T:p.D1746D,NAV2:uc001mpp.3:exon24:c.C4878T:p.D1626D, UNKNOWN Het;C>T 255;37|13 Het;C>T 566;17|26 Hom;C>T 675;0|24 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20101704 20101704 C T snp synonymous SNV C5274T S1758S polar,hydrophilic,neutral polar,hydrophilic,neutral NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs1867114 0.90635 0.8621 0.8881 1 0 0 exonic exonic exonic NAV2 NAV2 ENSG00000166833 synonymous SNV synonymous SNV unknown NAV2:NM_182964:exon25:c.C5274T:p.S1758S,NAV2:NM_001111019:exon15:c.C2466T:p.S822S,NAV2:NM_145117:exon25:c.C5274T:p.S1758S,NAV2:NM_001111018:exon25:c.C5082T:p.S1694S,NAV2:NM_001244963:exon27:c.C5442T:p.S1814S, NAV2:uc009yhy.1:exon13:c.C2160T:p.S720S,NAV2:uc001mpt.2:exon13:c.C2421T:p.S807S,NAV2:uc009yhz.3:exon9:c.C1209T:p.S403S,NAV2:uc001mpu.3:exon7:c.C588T:p.S196S,NAV2:uc031pzj.1:exon27:c.C5442T:p.S1814S,NAV2:uc001mpr.4:exon25:c.C5274T:p.S1758S,NAV2:uc009yhx.4:exon15:c.C2466T:p.S822S,NAV2:uc021qew.1:exon25:c.C5274T:p.S1758S,NAV2:uc010rdm.2:exon27:c.C5442T:p.S1814S,NAV2:uc001mpp.3:exon25:c.C5082T:p.S1694S, UNKNOWN Het;C>T 1304;41|57 Het;C>T 782;62|42 Hom;C>T 3028;0|112 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20104669 20104669 G A snp synonymous SNV G5451A P1817P hydrophobic,neutral hydrophobic,neutral NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs2028570 0.437899 0.4646 0.5281 1 0 0 exonic exonic exonic NAV2 NAV2 ENSG00000166833 synonymous SNV synonymous SNV unknown NAV2:NM_182964:exon26:c.G5451A:p.P1817P,NAV2:NM_001111019:exon16:c.G2634A:p.P878P,NAV2:NM_145117:exon26:c.G5442A:p.P1814P,NAV2:NM_001111018:exon26:c.G5250A:p.P1750P,NAV2:NM_001244963:exon28:c.G5619A:p.P1873P, NAV2:uc009yhz.3:exon10:c.G1377A:p.P459P,NAV2:uc001mpu.3:exon8:c.G756A:p.P252P,NAV2:uc031pzj.1:exon29:c.G5619A:p.P1873P,NAV2:uc001mpr.4:exon26:c.G5442A:p.P1814P,NAV2:uc009yhx.4:exon16:c.G2634A:p.P878P,NAV2:uc021qew.1:exon27:c.G5451A:p.P1817P,NAV2:uc010rdm.2:exon28:c.G5610A:p.P1870P,NAV2:uc001mpp.3:exon26:c.G5250A:p.P1750P, UNKNOWN Het;G>A 976;52|50 Het;G>A 382;53|23 Hom;G>A 2125;0|80 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20119298 20119298 G T snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs2289564 0.207468 0.1527 0.2036 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;G>T 838;34|37 Het;G>T 1249;28|54 Hom;G>T 2291;2|84 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20125067 20125067 G A snp intronic NAV2 Nav2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 rs77902403 0.00958466 0 0 1 0 0 intronic intronic intronic NAV2 NAV2 ENSG00000166833 Na Na Na Na Na Na Het;G>A 326;21|12 Het;G>A 340;20|13 Hom;G>A 708;0|24 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20281758 20281758 T G snp intergenic DBX1 Dbx1 ENSG00000109851 developing brain homeobox 1 chr11:20177701-20182159 Waist-Hip Ratio; Metabolism Mice homozygous for disruptions of this gene die at birth. V0 interneurons develop as V1 or dl6 interneurons. GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0021521;ventral spinal cord interneuron specification;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBX1 https://www.uniprot.org/uniprot/A6NMT0 http://www.informatics.jax.org/searchtool/Search.do?query=DBX1&submit=Quick%0D%3893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBX1 rs569102020 0.00219649 0 0 1 0 0 intergenic intergenic intergenic DBX1(dist=99888),HTATIP2(dist=103473) TRNA(dist=59907),HTATIP2(dist=103473) ENSG00000109851(dist=99599),ENSG00000109854(dist=103473) Na Na Na Na Na Na Het;T>G 232;4|7 Het;T>G 266;9|9 Hom;T>G 307;0|9 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20561991 20561991 C T snp intergenic PRMT3 Prmt3 ENSG00000185238 protein arginine methyltransferase 3 chr11:20409076-20530840 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Type 2 Diabetes| edema | rosiglitazone; Precursor Cell Lymphoblastic Leukemia-Lymphoma Mice homozygous for a hypomorphic gene trap allele exhibit a reduced embryonic size but survive birth and attain a normal size in adulthood. Protein methylation GO:0006479;protein methylation;TAS|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032259;methylation;IEA|GO:0035246;peptidyl-arginine N-methylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRMT3 https://www.ncbi.nlm.nih.gov/omim/?term=603190 http://www.informatics.jax.org/searchtool/Search.do?query=PRMT3&submit=Quick%0D%15371ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRMT3 rs2403602 0.261981 0 0 1 0 0 intergenic intergenic intergenic PRMT3(dist=31112),SLC6A5(dist=58955) PRMT3(dist=31112),SLC6A5(dist=58955) ENSG00000185238(dist=31151),ENSG00000255291(dist=33741) Na Na Na Na Na Na Het;C>T 39;2|2 Het;C>T 72;3|5 Hom;C>T 111;0|5 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20623023 20623023 C T snp synonymous SNV C352T L118L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC6A5 Slc6a5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 rs2241941 0.326877 0.3245 0.3503 1 0 0 exonic exonic exonic SLC6A5 SLC6A5 ENSG00000165970 synonymous SNV synonymous SNV unknown SLC6A5:NM_004211:exon2:c.C352T:p.L118L, SLC6A5:uc001mqd.3:exon2:c.C352T:p.L118L, UNKNOWN Het;C>T 980;72|49 Het;C>T 1270;75|59 Hom;C>T 2862;0|106 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20628700 20628700 C T snp intronic SLC6A5 Slc6a5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 rs147290648 0.00858626 0.0121 0.0196 1 0 0 intronic intronic intronic SLC6A5 SLC6A5 ENSG00000165970 Na Na Na Na Na Na Het;C>T 1512;95|71 Het;C>T 1804;132|86 Hom;C>T 3967;0|148 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20629164 20629164 G A snp synonymous SNV G951A T317T polar,hydrophilic,neutral polar,hydrophilic,neutral SLC6A5 Slc6a5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 rs1443551 0.120607 0.0507 0.0990 1 0 0 exonic exonic exonic SLC6A5 SLC6A5 ENSG00000165970 synonymous SNV synonymous SNV unknown SLC6A5:NM_004211:exon5:c.G951A:p.T317T, SLC6A5:uc001mqd.3:exon5:c.G951A:p.T317T,SLC6A5:uc009yic.3:exon4:c.G246A:p.T82T, UNKNOWN Het;G>A 840;76|46 Het;G>A 1358;81|68 Hom;G>A 2186;2|84 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20648179 20648179 C T snp intronic SLC6A5 Slc6a5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 rs76260245 0.111422 0 0 1 0 0 intronic intronic intronic SLC6A5 SLC6A5 ENSG00000165970 Na Na Na Na Na Na Het;C>T 391;6|14 Het;C>T 156;17|7 Hom;C>T 514;0|16 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20649644 20649644 T C snp intronic SLC6A5 Slc6a5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 rs80286799 0.061901 0.1013 0.1063 1 0 0 intronic intronic intronic SLC6A5 SLC6A5 ENSG00000165970 Na Na Na Na Na Na Het;T>C 1278;58|63 Het;T>C 1111;79|58 Hom;T>C 3071;0|115 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20805118 20805118 C T snp intronic NELL1 Nell1 ENSG00000165973 neural EGFL like 1 chr11:20691117-21597227 This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL1 https://www.ncbi.nlm.nih.gov/omim/?term=602319 http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1 rs2280362 0.648762 0 0 1 0 0 intronic intronic intronic NELL1 NELL1 ENSG00000165973 Na Na Na Na Na Na Het;C>T 269;6|10 Het;C>T 212;7|8 Hom;C>T 439;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 20805286 20805286 G A snp nonsynonymous SNV G329A R110Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral NELL1 Nell1 ENSG00000165973 neural EGFL like 1 chr11:20691117-21597227 This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL1 https://www.ncbi.nlm.nih.gov/omim/?term=602319 http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1 rs8176785 0.637181 0.6024 0.7362 0.38 5 13 exonic exonic exonic NELL1 NELL1 ENSG00000165973 nonsynonymous SNV nonsynonymous SNV unknown NELL1:NM_201551:exon3:c.G245A:p.R82Q,NELL1:NM_001288714:exon3:c.G245A:p.R82Q,NELL1:NM_001288713:exon4:c.G329A:p.R110Q,NELL1:NM_006157:exon3:c.G245A:p.R82Q, NELL1:uc009yid.3:exon4:c.G329A:p.R110Q,NELL1:uc001mqf.3:exon3:c.G245A:p.R82Q,NELL1:uc001mqe.3:exon3:c.G245A:p.R82Q,NELL1:uc010rdo.2:exon3:c.G245A:p.R82Q, UNKNOWN Het;G>A 1503;62|67 Het;G>A 1747;66|80 Hom;G>A 3168;2|116 N N - 11 212262 212262 T C snp intronic RIC8A Ric8a ENSG00000177963 RIC8 guanine nucleotide exchange factor A chr11:207511-215113 Homozygous mutation of this gene results in lethality during gastrulation. Heterozygotes exhibit impaired spatial learning and increased anxiety. GO:0001701;in utero embryonic development;IEA|GO:0001944;vasculature development;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA|GO:0007369;gastrulation;IEA|GO:0008542;visual learning;IEA|GO:0009416;response to light stimulus;IEA|GO:0042074;cell migration involved in gastrulation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0070586;cell-cell adhesion involved in gastrulation;IEA|GO:0071711;basement membrane organization;IEA GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA GO:0001965;G-protein alpha-subunit binding;IBA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RIC8A https://www.ncbi.nlm.nih.gov/omim/?term=609146 http://www.informatics.jax.org/searchtool/Search.do?query=RIC8A&submit=Quick%0D%14111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC8A rs12574034 0.346446 0 0 1 0 0 intronic intronic intronic RIC8A RIC8A ENSG00000177963 Na Na Na Na Na Na Het;T>C 71;4|3 Ref Hom;T>C 94;0|3 N N - 11 2152893 2152893 G A snp UTR3 *1324C>T IGF2 Igf2 ENSG00000167244 insulin like growth factor 2 chr11:2150342-2170833 This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] diabetes, type 2 insulin; breast cancer|prostate cancer; melanoma|Skin Neoplasms; Parkinson's disease; Adenocarcinoma|Diabetes Mellitus|Pancreatic Neoplasms; hypertension; body mass, height; atherosclerosis; prostate cancer; longevity; eating disorder; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; Insulin Resistance|Polycystic Ovary Syndrome; Alzheimer's disease ; muscle testing; lung cancer ; body mass; glaucoma, primary open-angle; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; epithelial ovarian cancer ; Birth Weight; HIV Infections|Pregnancy Complications, Infectious; insulin; obesity; urinary calculus; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Endometrial Neoplasms; esophageal adenocarcinoma; Alzheimer's Disease; Obesity and insulin response; Beckwith Wiedemann syndrome; diabetes, type 2; liver disease; pregnancy loss; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; oral cancer; Longevity; Diabetes Mellitus, Type 1; bladder cancer; height; gestational diabetes mellitus; diabetes, type 2; obesity; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; insulin; Chronic renal failure|Kidney Failure, Chronic; anorexia nervosa perfectionism; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leiomyoma|Uterine Neoplasms; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Bone Mineral Density; Type 2 Diabetes| edema | rosiglitazone; body mass; triglycerides; blood pressure, arterial; birth weight fetal growth; lung cancer; Bulimia; obesity; Stomach Neoplasms; diabetes, type 1; breast cancer ; Brain Neoplasms|; chronic obstructive pulmonary disease; Autism; hepatitis B liver cancer; null; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; muscle testing; birth weight; patent ductus arteriosus; Lymphoma, Non-Hodgkin Mutations that are paternally transmitted result in growth deficiency. Heterozygous mice inheriting a mutant allele from their mother appear to be phenotypically normal. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) GO:0001501;skeletal system development;TAS|GO:0001503;ossification;IEA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0002576;platelet degranulation;TAS|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006349;regulation of gene expression by genetic imprinting;TAS|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0007275;multicellular organism development;TAS|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0038028;insulin receptor signaling pathway via phosphatidylinositol 3-kinase;ISS|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043085;positive regulation of catalytic activity;ISS|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0045840;positive regulation of mitotic nuclear division;IDA|GO:0046628;positive regulation of insulin receptor signaling pathway;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:2000273;positive regulation of receptor activity;IEA|GO:2000467;positive regulation of glycogen (starch) synthase activity;ISS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005158;insulin receptor binding;IPI|GO:0005159;insulin-like growth factor receptor binding;IMP|GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA|GO:0030546;receptor activator activity;ISS|GO:0043539;protein serine/threonine kinase activator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/IGF2 https://hpo.jax.org/app/browse/search?q=IGF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147470 http://www.informatics.jax.org/searchtool/Search.do?query=IGF2&submit=Quick%0D%11980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF2 rs7129583 0.563898 0 0 1 0 0 UTR3 UTR3 UTR3 IGF2(NM_000612:c.*1324C>T,NM_001127598:c.*1324C>T,NM_001291862:c.*1324C>T,NM_001291861:c.*1324C>T,NM_001007139:c.*1324C>T) IGF2(uc001lvg.3:c.*1324C>T,uc009ydf.3:c.*1324C>T,uc021qcb.1:c.*1324C>T,uc001lvh.3:c.*1324C>T),INS-IGF2(uc009yde.3:c.*1324C>T) ENSG00000167244(ENST00000416167:c.*1324C>T,ENST00000381406:c.*1324C>T,ENST00000381395:c.*1324C>T,ENST00000300632:c.*1324C>T) Na Na Na Na Na Na Het;G>A 89;7|5 Ref Hom;G>A 193;0|8 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 21581805 21581805 C T snp synonymous SNV C1716T G572G aliphatic,neutral aliphatic,neutral NELL1 Nell1 ENSG00000165973 neural EGFL like 1 chr11:20691117-21597227 This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL1 https://www.ncbi.nlm.nih.gov/omim/?term=602319 http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1 rs8176789 0.543131 0.6666 0.7068 1 0 0 exonic exonic exonic NELL1 NELL1 ENSG00000165973 synonymous SNV synonymous SNV unknown NELL1:NM_201551:exon16:c.C1716T:p.G572G,NELL1:NM_001288714:exon16:c.C1686T:p.G562G,NELL1:NM_001288713:exon18:c.C1941T:p.G647G,NELL1:NM_006157:exon17:c.C1857T:p.G619G, NELL1:uc009yid.3:exon18:c.C1941T:p.G647G,NELL1:uc001mqf.3:exon16:c.C1716T:p.G572G,NELL1:uc001mqe.3:exon17:c.C1857T:p.G619G,NELL1:uc010rdp.2:exon13:c.C996T:p.G332G,NELL1:uc010rdo.2:exon16:c.C1686T:p.G562G, UNKNOWN Het;C>T 2205;90|101 Het;C>T 1290;73|64 Hom;C>T 3533;0|130 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 21581997 21581997 C T snp intronic NELL1 Nell1 ENSG00000165973 neural EGFL like 1 chr11:20691117-21597227 This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL1 https://www.ncbi.nlm.nih.gov/omim/?term=602319 http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1 rs8176790 0.54353 0 0 1 0 0 intronic intronic intronic NELL1 NELL1 ENSG00000165973 Na Na Na Na Na Na Het;C>T 538;7|19 Het;C>T 289;9|12 Hom;C>T 637;0|21 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 21592228 21592228 C A snp intronic NELL1 Nell1 ENSG00000165973 neural EGFL like 1 chr11:20691117-21597227 This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL1 https://www.ncbi.nlm.nih.gov/omim/?term=602319 http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1 rs4922847 0.576078 0 0 1 0 0 intronic intronic intronic NELL1 NELL1 ENSG00000165973 Na Na Na Na Na Na Het;C>A 114;4|5 Het;C>A 203;10|9 Hom;C>A 332;0|10 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22332483 22332483 A G snp ncRNA_intronic AC104009.1 rs73483456 0.115415 0 0 1 0 0 intergenic intergenic ncRNA_intronic ANO5(dist=27570),SLC17A6(dist=27184) ANO5(dist=27570),SLC17A6(dist=27184) ENSG00000254768 Na Na Na Na Na Na Het;A>G 289;14|15 Het;A>G 136;17|9 Hom;A>G 1564;0|63 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22363396 22363396 T A snp intronic SLC17A6 Slc17a6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 rs1562447 0.108826 0 0 1 0 0 intronic intronic intronic SLC17A6 SLC17A6 ENSG00000091664 Na Na Na Na Na Na Het;T>A 430;12|16 Het;T>A 144;19|8 Hom;T>A 649;0|20 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22364744 22364744 G A snp intronic SLC17A6 Slc17a6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 rs2246710 0.165935 0.2223 0.1891 1 0 0 intronic intronic intronic SLC17A6 SLC17A6 ENSG00000091664 Na Na Na Na Na Na Het;G>A 1312;56|56 Het;G>A 1083;33|45 Hom;G>A 2753;0|98 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22365025 22365025 A T snp intronic SLC17A6 Slc17a6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 rs2665690 0.165935 0 0 1 0 0 intronic intronic intronic SLC17A6 SLC17A6 ENSG00000091664 Na Na Na Na Na Na Het;A>T 739;28|27 Het;A>T 507;9|17 Hom;A>T 1036;0|33 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22391534 22391534 G A snp intronic SLC17A6 Slc17a6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 rs2665677 0.61901 0.6169 0.6077 1 0 0 intronic intronic intronic SLC17A6 SLC17A6 ENSG00000091664 Na Na Na Na Na Na Het;G>A 497;5|19 Het;G>A 341;31|16 Hom;G>A 1267;0|40 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22397739 22397739 A C snp intronic SLC17A6 Slc17a6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 rs2248436 0.647564 0 0 1 0 0 intronic intronic intronic SLC17A6 SLC17A6 ENSG00000091664 Na Na Na Na Na Na Het;A>C 503;20|18 Het;A>C 316;13|10 Hom;A>C 792;0|21 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22398830 22398830 A G snp intronic SLC17A6 Slc17a6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 rs1374718 0.232228 0 0 1 0 0 intronic intronic intronic SLC17A6 SLC17A6 ENSG00000091664 Na Na Na Na Na Na Het;A>G 228;4|7 Het;A>G 159;2|5 Hom;A>G 222;0|6 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22563694 22563694 G C snp intergenic LINC01495 rs11026628 0.219649 0 0 1 0 0 intergenic intergenic intergenic LINC01495(dist=50129),FANCF(dist=80385) SLC17A6(dist=162648),FANCF(dist=80385) ENSG00000255357(dist=39302),ENSG00000183161(dist=80385) Na Na Na Na Na Na Het;G>C 142;9|5 Het;G>C 320;12|10 Hom;G>C 612;0|16 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22646025 22646025 G A snp UTR3 *207C>T FANCF Fancf ENSG00000183161 Fanconi anemia complementation group F chr11:22644079-22647387 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] breast cancer ; epithelial ovarian cancer ; breast cancer; Adenocarcinoma|Pancreatic Neoplasms Fanconi Anemia Pathway GO:0001541;ovarian follicle development;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FANCF https://hpo.jax.org/app/browse/search?q=FANCF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613897 http://www.informatics.jax.org/searchtool/Search.do?query=FANCF&submit=Quick%0D%14936ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCF rs4447177 0.703674 0 0 1 0 0 UTR3 UTR3 UTR3 FANCF(NM_022725:c.*207C>T) FANCF(uc001mql.1:c.*207C>T) ENSG00000183161(ENST00000327470:c.*207C>T) Na Na Na Na Na Na Het;G>A 2063;73|88 Het;G>A 1126;84|55 Hom;G>A 4257;0|161 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22647366 22647366 G A snp UTR5;UTR3 -10C>T FANCF Fancf ENSG00000183161 Fanconi anemia complementation group F chr11:22644079-22647387 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] breast cancer ; epithelial ovarian cancer ; breast cancer; Adenocarcinoma|Pancreatic Neoplasms Fanconi Anemia Pathway GO:0001541;ovarian follicle development;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FANCF https://hpo.jax.org/app/browse/search?q=FANCF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613897 http://www.informatics.jax.org/searchtool/Search.do?query=FANCF&submit=Quick%0D%14936ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCF rs3740615 0.113818 0.1466 0.1567 1 0 0 UTR5 UTR5 UTR5;UTR3 FANCF(NM_022725:c.-10C>T) FANCF(uc001mql.1:c.-10C>T) ENSG00000183161(ENST00000327470:c.-10C>T);ENSG00000229387(ENST00000428556:c.*247G>A) Na Na Na Na Na Na Het;G>A 1288;58|54 Het;G>A 1178;55|53 Hom;G>A 2863;0|102 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22696451 22696451 A G snp synonymous SNV A36G G12G aliphatic,neutral aliphatic,neutral GAS2 Gas2 ENSG00000148935 growth arrest specific 2 chr11:22647188-22834601 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009] Heart Diseases; Mortality; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Narcolepsy; Diabetes Mellitus, Type 2 Null females have reduced fertility. Oocyte cyst breakdown is disrupted and follicle growth is impaired, with reduced antral follicle and corpora lutea numbers, and disrupted basal lamina surrounding follicles. Caspase-mediated cleavage of cytoskeletal proteins GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0008360;regulation of cell shape;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;TAS|GO:0016020;membrane;IEA GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS2 https://www.uniprot.org/uniprot/O43903 https://www.ncbi.nlm.nih.gov/omim/?term=602835 http://www.informatics.jax.org/searchtool/Search.do?query=GAS2&submit=Quick%0D%9175ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS2 rs922571 0.524161 0.5440 0.6197 1 0 0 exonic exonic exonic GAS2 GAS2 ENSG00000148935 synonymous SNV synonymous SNV unknown GAS2:NM_001143830:exon2:c.A36G:p.G12G,GAS2:NM_005256:exon1:c.A36G:p.G12G,GAS2:NM_177553:exon2:c.A36G:p.G12G, GAS2:uc009yie.3:exon2:c.A36G:p.G12G,GAS2:uc001mqo.3:exon1:c.A36G:p.G12G,GAS2:uc001mqm.3:exon2:c.A36G:p.G12G, UNKNOWN Het;A>G 1043;44|46 Het;A>G 485;64|26 Hom;A>G 2971;0|101 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22843220 22843220 T C snp UTR3 *1445A>G SVIP Svip ENSG00000198168 small VCP interacting protein chr11:22835345-22851845 Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Lipoproteins; Hip; Death, Sudden, Cardiac; Diabetes Mellitus, Type 2; Heart Failure; Platelet Aggregation; Triglycerides Neutrophil degranulation GO:0010508;positive regulation of autophagy;IMP|GO:0031333;negative regulation of protein complex assembly;IMP|GO:0043312;neutrophil degranulation;TAS|GO:1903061;positive regulation of protein lipidation;IMP|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:1904153;negative regulation of retrograde protein transport, ER to cytosol;IMP|GO:1904240;negative regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly;IEA GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0030868;smooth endoplasmic reticulum membrane;IEA|GO:0031225;anchored component of membrane;IDA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IMP|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SVIP http://www.informatics.jax.org/searchtool/Search.do?query=SVIP&submit=Quick%0D%16834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIP rs1019216 0.109026 0 0 1 0 0 downstream downstream UTR3 SVIP SVIP ENSG00000198168(ENST00000354193:c.*1445A>G) Na Na Na Na Na Na Het;T>C 1128;44|48 Het;T>C 900;29|33 Hom;T>C 2788;0|90 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 22868937 22868937 G A snp UTR3 *119C>T CCDC179 1700015G11Rik ENSG00000255359 coiled-coil domain containing 179 chr11:22868477-22881972 http://www.genecards.org/index.php?path=/Search/keyword/CCDC179 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC179&submit=Quick%0D%20129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC179 rs2302423 0.559704 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CCDC179(NM_001195637:c.*119C>T) CCDC179(uc021qfb.1:c.*119C>T) ENSG00000246225 Na Na Na Na Na Na Het;G>A 352;21|13 Het;G>A 359;7|16 Hom;G>A 1015;0|33 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 23501120 23501120 A G snp ncRNA_exonic THAP12P4 rs1824645 0.463458 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR8054(dist=60384),LUZP2(dist=1017396) CCDC179(dist=619148),endogenousretrovirusERV9(dist=458235) ENSG00000254465 Na Na Na Na Na Na Het;A>G 257;16|12 Het;A>G 190;8|9 Hom;A>G 664;0|23 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 23501214 23501214 T C snp ncRNA_exonic THAP12P4 rs1462541 0.463658 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR8054(dist=60478),LUZP2(dist=1017302) CCDC179(dist=619242),endogenousretrovirusERV9(dist=458141) ENSG00000254465 Na Na Na Na Na Na Het;T>C 324;5|13 Het;T>C 229;13|9 Hom;T>C 295;0|13 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 23501251 23501251 A C snp ncRNA_exonic THAP12P4 rs7932299 0.463458 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR8054(dist=60515),LUZP2(dist=1017265) CCDC179(dist=619279),endogenousretrovirusERV9(dist=458104) ENSG00000254465 Na Na Na Na Na Na Het;A>C 257;5|11 Het;A>C 186;14|7 Hom;A>C 302;0|11 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 23501342 23501342 T C snp ncRNA_exonic THAP12P4 rs7947558 0.463658 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR8054(dist=60606),LUZP2(dist=1017174) CCDC179(dist=619370),endogenousretrovirusERV9(dist=458013) ENSG00000254465 Na Na Na Na Na Na Het;T>C 39;4|2 Het;T>C 242;8|11 Hom;T>C 337;0|12 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 23590685 23590685 G GT indel intergenic MIR8054 rs750031255 0 0 0 1 0 0 intergenic intergenic intergenic MIR8054(dist=149949),LUZP2(dist=927831) CCDC179(dist=708713),endogenousretrovirusERV9(dist=368670) ENSG00000240881(dist=47937),ENSG00000255193(dist=161449) Na Na Na Na Na Na Het;+T 181;18|14 Het;+T 76;28|9 Hom;+T 997;4|46 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 24759855 24759855 G A snp intronic LUZP2 Luzp2 ENSG00000187398 leucine zipper protein 2 chr11:24518516-25104150 This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] serum markers of iron status; Tobacco Use Disorder Homozygous null mice are viable, fertile, and show no overt abnormalities. GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LUZP2 https://www.ncbi.nlm.nih.gov/omim/?term=608178 http://www.informatics.jax.org/searchtool/Search.do?query=LUZP2&submit=Quick%0D%15821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LUZP2 rs1564992 0.344249 0.2559 0.3533 1 0 0 intronic intronic intronic LUZP2 LUZP2 ENSG00000187398 Na Na Na Na Na Na Het;G>A 594;29|30 Het;G>A 520;46|31 Hom;G>A 1638;0|63 11_21.322_43.322 Chr11:11392976-25199292 1.269 11 24784862 24784862 A T snp intronic LUZP2 Luzp2 ENSG00000187398 leucine zipper protein 2 chr11:24518516-25104150 This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] serum markers of iron status; Tobacco Use Disorder Homozygous null mice are viable, fertile, and show no overt abnormalities. GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LUZP2 https://www.ncbi.nlm.nih.gov/omim/?term=608178 http://www.informatics.jax.org/searchtool/Search.do?query=LUZP2&submit=Quick%0D%15821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LUZP2 rs2716532 0.594848 0.6636 0.6418 1 0 0 intronic intronic intronic LUZP2 LUZP2 ENSG00000187398 Na Na Na Na Na Na Het;A>T 506;24|23 Het;A>T 375;16|18 Hom;A>T 1829;0|70 N N - 11 2630594 2630594 T C snp ncRNA_exonic KCNQ1OT1 rs4930137 0.400958 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KCNQ1OT1 KCNQ1OT1 ENSG00000269821 Na Na Na Na Na Na Het;T>C 641;26|23 Het;T>C 278;25|16 Hom;T>C 1222;0|42 N N - 11 2630799 2630816 GTTTCCTTATTGATCTTC G indel ncRNA_exonic KCNQ1OT1 rs138822050 0.207069 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KCNQ1OT1 KCNQ1OT1 ENSG00000269821 Na Na Na Na Na Na Het;-TTTCCTTATTGATCTTC 2267;52|60 Het;-TTTCCTTATTGATCTTC 2085;51|57 Hom;-TTTCCTTATTGATCTTC 4933;0|116 N N - 11 2630992 2630992 A T snp ncRNA_exonic KCNQ1OT1 rs4930138 0.20627 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KCNQ1OT1 KCNQ1OT1 ENSG00000269821 Na Na Na Na Na Na Het;A>T 90;8|4 Het;A>T 343;16|12 Hom;A>T 258;0|7 N N - 11 2631303 2631303 A G snp ncRNA_exonic KCNQ1OT1 rs4930139 0.224641 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KCNQ1OT1 KCNQ1OT1 ENSG00000269821 Na Na Na Na Na Na Het;A>G 615;58|29 Het;A>G 700;59|32 Hom;A>G 1809;0|58 N N - 11 26331349 26331349 A G snp intronic ANO3 Ano3 ENSG00000134343 anoctamin 3 chr11:26210829-26684835 The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Body Weight Changes; Coronary Artery Disease; Body Mass Index; Waist Circumference; C-Reactive Protein; Schizophrenia; Obesity; Cholesterol; Tobacco Use Disorder Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0050982;detection of mechanical stimulus;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO3 https://www.uniprot.org/uniprot/Q9BYT9 https://hpo.jax.org/app/browse/search?q=ANO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610110 http://www.informatics.jax.org/searchtool/Search.do?query=ANO3&submit=Quick%0D%6965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO3 rs7950267 0.527356 0 0 1 0 0 intergenic intronic intronic LUZP2(dist=1227163),ANO3(dist=22329) ANO3 ENSG00000134343 Na Na Na Na Na Na Het;A>G 251;11|12 Het;A>G 151;15|9 Hom;A>G 608;2|24 N N - 11 26465500 26465500 G A snp intronic ANO3 Ano3 ENSG00000134343 anoctamin 3 chr11:26210829-26684835 The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Body Weight Changes; Coronary Artery Disease; Body Mass Index; Waist Circumference; C-Reactive Protein; Schizophrenia; Obesity; Cholesterol; Tobacco Use Disorder Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0050982;detection of mechanical stimulus;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO3 https://www.uniprot.org/uniprot/Q9BYT9 https://hpo.jax.org/app/browse/search?q=ANO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610110 http://www.informatics.jax.org/searchtool/Search.do?query=ANO3&submit=Quick%0D%6965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO3 rs4032918 0.635383 0 0 1 0 0 intronic intronic intronic ANO3 ANO3 ENSG00000134343 Na Na Na Na Na Na Het;G>A 129;8|5 Het;G>A 34;3|2 Hom;G>A 465;0|13 N N - 11 2655365 2655365 A ATT indel ncRNA_exonic KCNQ1OT1 rs35461041 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KCNQ1OT1 KCNQ1OT1 ENSG00000269821 Na Na Na Na Na Na Het;+TT 221;3|11 Ref Hom;+TT 335;0|13 N N - 11 26663298 26663298 T A snp intronic ANO3 Ano3 ENSG00000134343 anoctamin 3 chr11:26210829-26684835 The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Body Weight Changes; Coronary Artery Disease; Body Mass Index; Waist Circumference; C-Reactive Protein; Schizophrenia; Obesity; Cholesterol; Tobacco Use Disorder Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0050982;detection of mechanical stimulus;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO3 https://www.uniprot.org/uniprot/Q9BYT9 https://hpo.jax.org/app/browse/search?q=ANO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610110 http://www.informatics.jax.org/searchtool/Search.do?query=ANO3&submit=Quick%0D%6965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO3 rs11603910 0.50599 0 0 1 0 0 intronic intronic intronic ANO3 ANO3 ENSG00000134343 Na Na Na Na Na Na Het;T>A 123;6|7 Ref Hom;T>A 334;0|13 N N - 11 26669095 26669095 G A snp intronic ANO3 Ano3 ENSG00000134343 anoctamin 3 chr11:26210829-26684835 The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Body Weight Changes; Coronary Artery Disease; Body Mass Index; Waist Circumference; C-Reactive Protein; Schizophrenia; Obesity; Cholesterol; Tobacco Use Disorder Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0016048;detection of temperature stimulus;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0050982;detection of mechanical stimulus;IEA|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO3 https://www.uniprot.org/uniprot/Q9BYT9 https://hpo.jax.org/app/browse/search?q=ANO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610110 http://www.informatics.jax.org/searchtool/Search.do?query=ANO3&submit=Quick%0D%6965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO3 rs10734380 0.563898 0 0 1 0 0 intronic intronic intronic ANO3 ANO3 ENSG00000134343 Na Na Na Na Na Na Het;G>A 108;3|4 Ref Hom;G>A 193;0|7 N N - 11 27289054 27289054 G A snp intergenic BBOX1-AS1 rs7929461 0.159345 0 0 1 0 0 intergenic intergenic intergenic BBOX1-AS1(dist=47394),CCDC34(dist=71007) BBOX1(dist=139700),CCDC34(dist=71007) ENSG00000254560(dist=47394),ENSG00000109881(dist=71007) Na Na Na Na Na Na Het;G>A 809;24|35 Het;G>A 584;20|27 Hom;G>A 1081;2|46 N N - 11 27372151 27372151 A T snp intronic CCDC34 Ccdc34 ENSG00000109881 coiled-coil domain containing 34 chr11:27352374-27385415 http://www.genecards.org/index.php?path=/Search/keyword/CCDC34 https://www.uniprot.org/uniprot/Q96HJ3 https://www.ncbi.nlm.nih.gov/omim/?term=612324 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC34&submit=Quick%0D%3896ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC34 rs6484293 0.325879 0 0 1 0 0 intronic intronic intronic CCDC34 CCDC34 ENSG00000109881 Na Na Na Na Na Na Het;A>T 101;1|4 Ref Hom;A>T 198;0|6 N N - 11 27379127 27379127 C G snp intronic CCDC34 Ccdc34 ENSG00000109881 coiled-coil domain containing 34 chr11:27352374-27385415 http://www.genecards.org/index.php?path=/Search/keyword/CCDC34 https://www.uniprot.org/uniprot/Q96HJ3 https://www.ncbi.nlm.nih.gov/omim/?term=612324 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC34&submit=Quick%0D%3896ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC34 rs3741407 0.25619 0.2830 0.2957 1 0 0 intronic intronic intronic CCDC34 CCDC34 ENSG00000109881 Na Na Na Na Na Na Het;C>G 823;33|33 Het;C>G 521;41|22 Hom;C>G 1653;0|58 N N - 11 27393813 27393813 G A snp intronic LGR4 Lgr4 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 chr11:27387508-27494322 The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0001942;hair follicle development;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030539;male genitalia development;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0035239;tube morphogenesis;IEA|GO:0036335;intestinal stem cell homeostasis;IEA|GO:0045087;innate immune response;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046849;bone remodeling;IEA|GO:0048511;rhythmic process;IEA|GO:0048565;digestive tract development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0072202;cell differentiation involved in metanephros development;IEA|GO:0072224;metanephric glomerulus development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGR4 https://www.ncbi.nlm.nih.gov/omim/?term=606666 http://www.informatics.jax.org/searchtool/Search.do?query=LGR4&submit=Quick%0D%17480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR4 rs2448001 0.417532 0.3926 0.3868 1 0 0 intronic intronic intronic LGR4 LGR4 ENSG00000205213 Na Na Na Na Na Na Het;G>A 933;52|40 Het;G>A 773;30|36 Hom;G>A 1456;0|53 N N - 11 27395377 27395377 G A snp intronic LGR4 Lgr4 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 chr11:27387508-27494322 The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0001942;hair follicle development;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030539;male genitalia development;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0035239;tube morphogenesis;IEA|GO:0036335;intestinal stem cell homeostasis;IEA|GO:0045087;innate immune response;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046849;bone remodeling;IEA|GO:0048511;rhythmic process;IEA|GO:0048565;digestive tract development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0072202;cell differentiation involved in metanephros development;IEA|GO:0072224;metanephric glomerulus development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGR4 https://www.ncbi.nlm.nih.gov/omim/?term=606666 http://www.informatics.jax.org/searchtool/Search.do?query=LGR4&submit=Quick%0D%17480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR4 rs2448003 0.34984 0 0 1 0 0 intronic intronic intronic LGR4 LGR4 ENSG00000205213 Na Na Na Na Na Na Het;G>A 273;6|9 Het;G>A 113;4|5 Hom;G>A 477;0|12 N N - 11 27401743 27401743 A T snp intronic LGR4 Lgr4 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 chr11:27387508-27494322 The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0001942;hair follicle development;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030539;male genitalia development;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0035239;tube morphogenesis;IEA|GO:0036335;intestinal stem cell homeostasis;IEA|GO:0045087;innate immune response;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046849;bone remodeling;IEA|GO:0048511;rhythmic process;IEA|GO:0048565;digestive tract development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0072202;cell differentiation involved in metanephros development;IEA|GO:0072224;metanephric glomerulus development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGR4 https://www.ncbi.nlm.nih.gov/omim/?term=606666 http://www.informatics.jax.org/searchtool/Search.do?query=LGR4&submit=Quick%0D%17480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR4 rs2472623 0.569089 0 0 1 0 0 intronic intronic intronic LGR4 LGR4 ENSG00000205213 Na Na Na Na Na Na Het;A>T 85;12|4 Het;A>T 174;5|6 Hom;A>T 619;0|22 N N - 11 27401927 27401927 T G snp intronic LGR4 Lgr4 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 chr11:27387508-27494322 The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0001942;hair follicle development;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030539;male genitalia development;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0035239;tube morphogenesis;IEA|GO:0036335;intestinal stem cell homeostasis;IEA|GO:0045087;innate immune response;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046849;bone remodeling;IEA|GO:0048511;rhythmic process;IEA|GO:0048565;digestive tract development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0072202;cell differentiation involved in metanephros development;IEA|GO:0072224;metanephric glomerulus development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGR4 https://www.ncbi.nlm.nih.gov/omim/?term=606666 http://www.informatics.jax.org/searchtool/Search.do?query=LGR4&submit=Quick%0D%17480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR4 rs2448005 0.364417 0.3152 0.3346 1 0 0 intronic intronic intronic LGR4 LGR4 ENSG00000205213 Na Na Na Na Na Na Het;T>G 280;21|14 Het;T>G 205;18|10 Hom;T>G 598;0|24 N N - 11 27401940 27401940 T A snp intronic LGR4 Lgr4 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 chr11:27387508-27494322 The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0001942;hair follicle development;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030539;male genitalia development;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0035239;tube morphogenesis;IEA|GO:0036335;intestinal stem cell homeostasis;IEA|GO:0045087;innate immune response;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046849;bone remodeling;IEA|GO:0048511;rhythmic process;IEA|GO:0048565;digestive tract development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0072202;cell differentiation involved in metanephros development;IEA|GO:0072224;metanephric glomerulus development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGR4 https://www.ncbi.nlm.nih.gov/omim/?term=606666 http://www.informatics.jax.org/searchtool/Search.do?query=LGR4&submit=Quick%0D%17480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR4 rs2472622 0.569089 0.6439 0 1 0 0 intronic intronic intronic LGR4 LGR4 ENSG00000205213 Na Na Na Na Na Na Het;T>A 247;16|11 Het;T>A 237;10|10 Hom;T>A 587;0|22 N N - 11 27406844 27406844 G A snp synonymous SNV C573T S191S polar,hydrophilic,neutral polar,hydrophilic,neutral LGR4 Lgr4 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 chr11:27387508-27494322 The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016] BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0001942;hair follicle development;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007623;circadian rhythm;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030539;male genitalia development;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0035239;tube morphogenesis;IEA|GO:0036335;intestinal stem cell homeostasis;IEA|GO:0045087;innate immune response;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046849;bone remodeling;IEA|GO:0048511;rhythmic process;IEA|GO:0048565;digestive tract development;IEA|GO:0050673;epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0061290;canonical Wnt signaling pathway involved in metanephric kidney development;IEA|GO:0072202;cell differentiation involved in metanephros development;IEA|GO:0072224;metanephric glomerulus development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LGR4 https://www.ncbi.nlm.nih.gov/omim/?term=606666 http://www.informatics.jax.org/searchtool/Search.do?query=LGR4&submit=Quick%0D%17480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR4 rs6484295 0.364417 0.3160 0.3292 1 0 0 exonic exonic exonic LGR4 LGR4 ENSG00000205213 synonymous SNV synonymous SNV unknown LGR4:NM_018490:exon5:c.C573T:p.S191S, LGR4:uc001mrk.4:exon4:c.C501T:p.S167S,LGR4:uc001mrj.4:exon5:c.C573T:p.S191S, UNKNOWN Het;G>A 2274;92|103 Het;G>A 1762;105|87 Hom;G>A 4545;0|178 N N - 11 27496036 27496038 AGT A indel ncRNA_exonic AC100771.2 rs554556757 0.342851 0 0 1 0 0 intergenic intergenic ncRNA_exonic LGR4(dist=1702),LIN7C(dist=19927) LGR4(dist=1702),LIN7C(dist=19927) ENSG00000254862 Na Na Na Na Na Na Het;-GT 1442;61|42 Het;-GT 1737;52|50 Hom;-GT 3826;2|95 N N - 11 27503709 27503711 CCT C indel ncRNA_intronic AC100771.2 rs3034539 0.432508 0 0 1 0 0 intergenic intergenic ncRNA_intronic LGR4(dist=9375),LIN7C(dist=12254) LGR4(dist=9375),LIN7C(dist=12254) ENSG00000254862 Na Na Na Na Na Na Het;-CT 200;3|8 Het;-CT 189;1|8 Hom;-CT 364;0|12 N N - 11 27503936 27503936 A AT indel ncRNA_exonic AC100771.2 rs11390929 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic LGR4(dist=9602),LIN7C(dist=12029) LGR4(dist=9602),LIN7C(dist=12029) ENSG00000254862 Na Na Na Na Na Na Het;+T 114;7|8 Het;+T 120;10|9 Hom;+T 178;3|12 N N - 11 27679916 27679916 C T snp nonsynonymous SNV G196A V66M aliphatic,hydrophobic,neutral hydrophobic,neutral BDNF Bdnf ENSG00000176697 brain derived neurotrophic factor chr11:27676440-27743605 This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015] Alcoholism|Recurrence; Depression|treatment with fluoxetine; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Parkinson's Disease; Ovarian Failure, Premature; Asthma|; Body Weight; Obesity; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; personality traits schizophrenia; attention deficit hyperactivity disorder; Epilepsy|Rett Syndrome; brain activity; memory performance.; mood disorder; body mass; Rett Syndrome; Parkinson's disease ; Alzheimer's disease; depression depressive disorder, major; obsessive Compulsive Disorder; BMI; obsessive-compulsive disorder; Alzheimer's Disease; ADHD | attention-deficit hyperactivity disorder; psychosis; ADHD; Alzheimer's disease ; Alzheimer Disease|Amnesia; introversion and neuroticism; Leukoencephalopathies; alcohol consumption; Dyskinesia, Drug-Induced|; Parkinson's disease; cognition; epilepsy; obesity; schizoaffective disorder schizophrenia; autism; antidepressant treatment; hypertension; personality traits; anorexia nervosa; bulimia; cognitive performance; Schizophrenia|brain atrophy; Chromosome Aberrations; Opioid-Related Disorders; Schizophrenia; Migraine Disorders; Dystonic Disorders|; longevity; Type 2 diabetes; cognitive function; motor function; alcohol abuse; personality disorders; mood status; ADHD | attention deficit hyperactivity disorder; Atrophy|Prenatal Exposure Delayed Effects|Substance-Related Disorders; obsessive compulsive disorder; information processing; several psychiatric disorders; Marijuana Abuse|Psychoses, Substance-Induced; Bipolar Disorder; Body Weight|Diabetes Mellitus, Type 2|Obesity; Amnesia, Transient Global; Parkinsons disease; cognitive function schizophrenia; personality; Hyperphagia|Obesity|WAGR Syndrome; Brain Injuries|Wounds, Penetrating; amphetamine response; smoking behavior; depression stroke; cognitive reactivity; methamphetamine abuse; Dyskinesia, Drug-Induced; neuroticism; brain morphology; obesity|Type 2 diabetes; methamphetamine abuse; substance abuse; Alzheimer's disease Parkinson's disease; eating disorders mood disorders schizophrenia substance abuse; Subarachnoid Hemorrhage; alcoholism; schizophrenia; tardive dyskinesia; methamphetamine use; Headache; schizophrenia; bipolar disorder; schizophrenia; schizoaffective disorder; bipolar disorder; anxiety disorder; Huntington's disease; childhood-onset mood disorders; Cerebral Infarction|Memory Disorders|Subarachnoid Hemorrhage; BDNF serum concentrations; serotonin transporter availability; Depression, Postpartum; affective psychoses; Akathisia, Drug-Induced|; Body Mass Index; schizophrenia; depressive disorder, major; bipolar disorder; Heroin Dependence; seizures, febrile; hippocampal volume; personality trait and intelligence; Bone Mineral Density; Mental Retardation; mood disorders; major depressive disorder; Dermatitis, Atopic; Alzheimer's disease; Parkinson's disease; multiple system atrophy; schizophrenia; psychoses; bipolar disorder; reasoning skills; schizophrenia weight gain; suicide; alcohol; bulimia eating disorder; electroconvulsive therapy response; cognitive ability; smoking; Epilepsy|Fragile X Syndrome; response inhibition; Bulimia; Hypercholesterolemia|LDLC levels; mood pain; cognitive function; Body mass index; juvenile endogenous attack-like psychoses; Sleep Apnea, Obstructive; depressive disorder, major; panic disorder; bipolar disorder schizophrenia; Ache, Low Back|Low Back Pain; Myopia; Atrophy|Memory Disorders; social stress ; obesity; attention deficit hyperactivity disorder; anorexia nervosa; bulimia; memory impairment; multiple sclerosis; Tobacco Use Disorder; weight ; Body Weight|Bulimia|Starvation; asthma; cervical dystonia; Angina, Unstable|Coronary Artery Disease; Hypertension; Type 2 Diabetes| edema | rosiglitazone; personality disorders; depression; Spinal Cord Injuries; Brain Injuries; eating disorders; schizophrenia; affective disorder Alzheimer's disease post-traumatic stress disorder schizophrenia substance abuse; epilepsy, temporal lobe; rumination; Weight Gain; Apoplexy|Stroke; memory impairment; psychoses; Alcoholism|; Alzheimer's disease dementia with Lewy bodies; Autism; Alzheimer Disease|Alzheimer's Disease; depressive disorder, major hippocampal volume; anorexia nervosa; response to antidepressants; null; Amphetamine-Related Disorders; Bipolar disorder; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Parkinson's disease; schizotypal traits; Body Weight|Obesity; Disease Progression; Smoking Homozygotes for targeted null alleles exhibit sensory neuron losses affecting coordination, balance, hearing, taste, and breathing, cerebellar abnormalities, increased sympathetic neuron number, and postnatal lethality. Carriers show mild defects. GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IDA|GO:0010832;negative regulation of myotube differentiation;ISS|GO:0031547;brain-derived neurotrophic factor receptor signaling pathway;TAS|GO:0031550;positive regulation of brain-derived neurotrophic factor receptor signaling pathway;TAS|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0048668;collateral sprouting;IDA|GO:0048672;positive regulation of collateral sprouting;IDA|GO:0051965;positive regulation of synapse assembly;IDA|GO:1900122;positive regulation of receptor binding;IDA|GO:2000008;regulation of protein localization to cell surface;TAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IDA|GO:0031410;cytoplasmic vesicle;IBA|GO:0048471;perinuclear region of cytoplasm;ISS GO:0005102;receptor binding;IEA|GO:0005169;neurotrophin TRKB receptor binding;IBA|GO:0008083;growth factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/BDNF https://hpo.jax.org/app/browse/search?q=BDNF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=113505 http://www.informatics.jax.org/searchtool/Search.do?query=BDNF&submit=Quick%0D%13897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BDNF rs6265 0.201278 0.1403 0.1937 0.62 8 13 exonic exonic exonic BDNF BDNF ENSG00000176697 nonsynonymous SNV nonsynonymous SNV unknown BDNF:NM_001143811:exon4:c.G196A:p.V66M,BDNF:NM_001143810:exon3:c.G442A:p.V148M,BDNF:NM_170733:exon2:c.G196A:p.V66M,BDNF:NM_001143807:exon2:c.G196A:p.V66M,BDNF:NM_001143806:exon2:c.G196A:p.V66M,BDNF:NM_170734:exon2:c.G241A:p.V81M,BDNF:NM_170732:exon2:c.G196A:p.V66M,BDNF:NM_001143813:exon2:c.G196A:p.V66M,BDNF:NM_001143814:exon3:c.G196A:p.V66M,BDNF:NM_001143808:exon2:c.G196A:p.V66M,BDNF:NM_001143812:exon2:c.G196A:p.V66M,BDNF:NM_001143805:exon2:c.G196A:p.V66M,BDNF:NM_170731:exon2:c.G220A:p.V74M,BDNF:NM_001143816:exon2:c.G196A:p.V66M,BDNF:NM_001143809:exon2:c.G283A:p.V95M,BDNF:NM_170735:exon1:c.G196A:p.V66M,BDNF:NM_001709:exon2:c.G196A:p.V66M, BDNF:uc010rdw.2:exon2:c.G196A:p.V66M,BDNF:uc001mru.3:exon2:c.G196A:p.V66M,BDNF:uc009yjf.3:exon2:c.G283A:p.V95M,BDNF:uc009yjg.3:exon4:c.G196A:p.V66M,BDNF:uc010rdy.2:exon2:c.G196A:p.V66M,BDNF:uc001mrw.4:exon2:c.G196A:p.V66M,BDNF:uc001mrt.3:exon2:c.G241A:p.V81M,BDNF:uc001mrx.3:exon2:c.G196A:p.V66M,BDNF:uc001msa.3:exon2:c.G220A:p.V74M,BDNF:uc001mrz.4:exon2:c.G196A:p.V66M,BDNF:uc001mrv.3:exon2:c.G196A:p.V66M,BDNF:uc010rdu.2:exon2:c.G196A:p.V66M,BDNF:uc009yjd.3:exon3:c.G196A:p.V66M,BDNF:uc001mry.4:exon2:c.G196A:p.V66M,BDNF:uc010rdx.2:exon2:c.G196A:p.V66M,BDNF:uc021qff.1:exon1:c.G196A:p.V66M,BDNF:uc009yje.3:exon3:c.G442A:p.V148M, UNKNOWN Het;C>T 2959;140|122 Het;C>T 2731;75|117 Hom;C>T 6035;4|224 N N - 11 2861578 2861578 G T snp ncRNA_exonic KCNQ1-AS1 rs10741726 0.345447 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic KCNQ1-AS1 KCNQ1 ENSG00000229414 Na Na Na Na Na Na Het;G>T 369;54|24 Het;G>T 480;51|26 Hom;G>T 2456;0|92 N N - 11 28698942 28698942 G A snp intergenic MIR8068 rs5024439 0.486022 0 0 1 0 0 intergenic intergenic intergenic MIR8068(dist=199847),KCNA4(dist=1332346) METTL15(dist=343888),KCNA4(dist=1332346) ENSG00000255322(dist=150354),ENSG00000248990(dist=1788) Na Na Na Na Na Na Het;G>A 36;2|2 Ref Hom;G>A 123;0|4 N N - 11 2920666 2920666 C T snp nonsynonymous SNV G266A G89D aliphatic,neutral polar,hydrophilic,charged(-) SLC22A18AS ENSG00000254827 solute carrier family 22 member 18 antisense chr11:2909010-2924970 Neuroblastoma GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SLC22A18AS https://www.ncbi.nlm.nih.gov/omim/?term=603240 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A18AS&submit=Quick%0D%20086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A18AS rs365605 0.613019 0.6792 0.6268 1 0 0 exonic exonic exonic SLC22A18AS SLC22A18AS ENSG00000254827 nonsynonymous SNV nonsynonymous SNV unknown SLC22A18AS:NM_007105:exon3:c.G266A:p.G89D, SLC22A18AS:uc001lwv.4:exon3:c.G266A:p.G89D, UNKNOWN Het;C>T 701;58|35 Het;C>T 393;53|25 Hom;C>T 1860;0|68 N N - 11 2939050 2939050 G A snp intronic SLC22A18 Slc22a18 ENSG00000276130 solute carrier family 22 member 18 chr11:2920951-2946476 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015] serum bilirubin levels; Alcohol dependence ; Bilirubin GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A18 https://hpo.jax.org/app/browse/search?q=SLC22A18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602631 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A18&submit=Quick%0D%21532ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A18 rs427398 0.413139 0 0 1 0 0 intronic intronic intronic SLC22A18 SLC22A18 ENSG00000110628 Na Na Na Na Na Na Het;G>A 344;9|11 Ref Hom;G>A 350;0|10 N N - 11 2973159 2973159 G A snp intronic NAP1L4 Nap1l4 ENSG00000273562 nucleosome assembly protein 1 like 4 chr11:2965667-3013607 This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008] Alcohol dependence ; Alcoholism GO:0006334;nucleosome assembly;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/NAP1L4 https://www.ncbi.nlm.nih.gov/omim/?term=601651 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L4&submit=Quick%0D%20948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L4 rs2071117 0.21226 0 0 1 0 0 intronic intronic intronic NAP1L4 NAP1L4 ENSG00000205531 Na Na Na Na Na Na Het;G>A 159;6|6 Het;G>A 75;10|4 Hom;G>A 196;0|7 N N - 11 2979798 2979798 G T snp intronic NAP1L4 Nap1l4 ENSG00000273562 nucleosome assembly protein 1 like 4 chr11:2965667-3013607 This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008] Alcohol dependence ; Alcoholism GO:0006334;nucleosome assembly;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/NAP1L4 https://www.ncbi.nlm.nih.gov/omim/?term=601651 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L4&submit=Quick%0D%20948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L4 rs7940694 0.897564 0.8273 0.8278 1 0 0 intronic intronic intronic NAP1L4 NAP1L4 ENSG00000205531 Na Na Na Na Na Na Het;G>T 1128;50|46 Het;G>T 743;61|35 Hom;G>T 2701;0|96 N N - 11 30083741 30083741 G T snp ncRNA_intronic AC124657.1 rs577670 0.435503 0 0 1 0 0 intergenic intergenic ncRNA_intronic KCNA4(dist=45164),FSHB(dist=168822) KCNA4(dist=45164),FSHB(dist=168822) ENSG00000254532 Na Na Na Na Na Na Het;G>T 212;7|10 Het;G>T 342;10|16 Hom;G>T 685;0|25 N N - 11 3026692 3026692 T G snp intronic CARS Cars ENSG00000278191 cysteinyl-tRNA synthetase chr11:3022152-3078843 This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] Diabetic Nephropathies; Longevity; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Alcoholism; Alcohol dependence ; diabetes, type 1 Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006423;cysteinyl-tRNA aminoacylation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000049;tRNA binding;IMP|GO:0000166;nucleotide binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004817;cysteine-tRNA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CARS https://www.uniprot.org/uniprot/P49589 https://www.ncbi.nlm.nih.gov/omim/?term=123859 http://www.informatics.jax.org/searchtool/Search.do?query=CARS&submit=Quick%0D%21983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARS rs4758458 0.88738 0.8348 0.8308 1 0 0 intronic intronic intronic CARS CARS ENSG00000110619 Na Na Na Na Na Na Het;T>G 1016;54|31 Het;T>G 1504;31|43 Hom;T>G 1805;0|54 N N - 11 3028270 3028270 A G snp intronic CARS Cars ENSG00000278191 cysteinyl-tRNA synthetase chr11:3022152-3078843 This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] Diabetic Nephropathies; Longevity; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Alcoholism; Alcohol dependence ; diabetes, type 1 Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006423;cysteinyl-tRNA aminoacylation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000049;tRNA binding;IMP|GO:0000166;nucleotide binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004817;cysteine-tRNA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CARS https://www.uniprot.org/uniprot/P49589 https://www.ncbi.nlm.nih.gov/omim/?term=123859 http://www.informatics.jax.org/searchtool/Search.do?query=CARS&submit=Quick%0D%21983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARS rs7950766 0.886182 0 0 1 0 0 intronic intronic intronic CARS CARS ENSG00000110619 Na Na Na Na Na Na Het;A>G 569;30|21 Het;A>G 472;25|19 Hom;A>G 1077;0|34 N N - 11 30601733 30601734 CT C indel intronic MPPED2 Mpped2 ENSG00000066382 metallophosphoesterase domain containing 2 chr11:30406040-30608419 This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Celiac Disease|; Myocardial Infarction; Magnesium; Inflammatory Bowel Diseases; Kidney Failure, Chronic; Heart Failure; Eosinophils; Tobacco Use Disorder; Dental Caries GO:0007399;nervous system development;TAS GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MPPED2 https://www.uniprot.org/uniprot/Q15777 https://www.ncbi.nlm.nih.gov/omim/?term=600911 http://www.informatics.jax.org/searchtool/Search.do?query=MPPED2&submit=Quick%0D%1218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPPED2 rs397812984 0.466653 0 0 1 0 0 intronic intronic intronic MPPED2 MPPED2 ENSG00000066382 Na Na Na Na Na Na Het;-T 156;25|11 Het;-T 831;19|38 Hom;-T 992;0|38 N N - 11 30607665 30607665 G A snp UTR5 -5745C>T MPPED2 Mpped2 ENSG00000066382 metallophosphoesterase domain containing 2 chr11:30406040-30608419 This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Celiac Disease|; Myocardial Infarction; Magnesium; Inflammatory Bowel Diseases; Kidney Failure, Chronic; Heart Failure; Eosinophils; Tobacco Use Disorder; Dental Caries GO:0007399;nervous system development;TAS GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MPPED2 https://www.uniprot.org/uniprot/Q15777 https://www.ncbi.nlm.nih.gov/omim/?term=600911 http://www.informatics.jax.org/searchtool/Search.do?query=MPPED2&submit=Quick%0D%1218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPPED2 rs553595009 0.000998403 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic MPPED2(NM_001145399:c.-5745C>T) MPPED2(uc001msq.3:c.-5745C>T) ENSG00000254489 Na Na Na Na Na Na Het;G>A 142;7|6 Ref Hom;G>A 71;0|4 N N - 11 3061949 3061949 C A snp ncRNA_intronic AX747870 rs2285390 0.916534 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic CARS AX747870 ENSG00000247473 Na Na Na Na Na Na Het;C>A 77;1|3 Het;C>A 136;5|5 Hom;C>A 164;0|5 N N - 11 3242688 3242688 G A snp ncRNA_intronic MRGPRG-AS1 rs12794028 0.352236 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic MRGPRG-AS1 MRGPRG-AS1 ENSG00000236301 Na Na Na Na Na Na Het;G>A 207;4|7 Ref Hom;G>A 229;0|7 N N - 11 33564123 33564123 T C snp synonymous SNV T123C G41G aliphatic,neutral aliphatic,neutral KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs2076623 0.696885 0.7091 0.6522 1 0 0 exonic exonic exonic KIAA1549L KIAA1549L ENSG00000110427 synonymous SNV synonymous SNV unknown KIAA1549L:NM_012194:exon1:c.T123C:p.G41G, KIAA1549L:uc021qfs.1:exon1:c.T123C:p.G41G,KIAA1549L:uc001mun.1:exon1:c.T123C:p.G41G, UNKNOWN Het;T>C 1659;71|68 Het;T>C 1451;80|68 Hom;T>C 4520;0|161 N N - 11 33581153 33581153 T C snp intronic KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs2076627 0.589058 0 0 1 0 0 intronic intronic intronic KIAA1549L KIAA1549L ENSG00000110427 Na Na Na Na Na Na Het;T>C 78;4|3 Het;T>C 185;7|6 Hom;T>C 440;0|12 N N - 11 33581262 33581262 G A snp intronic KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs2281381 0.383187 0.4056 0.3856 1 0 0 intronic intronic intronic KIAA1549L KIAA1549L ENSG00000110427 Na Na Na Na Na Na Het;G>A 760;51|35 Het;G>A 661;45|33 Hom;G>A 2469;0|88 N N - 11 33581306 33581306 G A snp synonymous SNV G2976A T992T polar,hydrophilic,neutral polar,hydrophilic,neutral KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs2281380 0.388978 0.4103 0.3877 1 0 0 exonic exonic exonic KIAA1549L KIAA1549L ENSG00000110427 synonymous SNV synonymous SNV unknown KIAA1549L:NM_012194:exon6:c.G2976A:p.T992T, KIAA1549L:uc021qfs.1:exon6:c.G2976A:p.T992T,KIAA1549L:uc001mun.1:exon6:c.G2994A:p.T998T, UNKNOWN Het;G>A 1910;121|88 Het;G>A 1605;106|76 Hom;G>A 5887;0|211 N N - 11 33581537 33581547 GCCACATACTA G indel intronic KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs3830851 0.415335 0 0 1 0 0 intronic intronic intronic KIAA1549L KIAA1549L ENSG00000110427 Na Na Na Na Na Na Het;-CCACATACTA 1269;46|35 Het;-CCACATACTA 1262;37|35 Hom;-CCACATACTA 2543;0|61 N N - 11 33631423 33631423 G A snp synonymous SNV G4299A K1433K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs2076622 0.451677 0.4323 0.4149 1 0 0 exonic exonic exonic KIAA1549L KIAA1549L ENSG00000110427 synonymous SNV synonymous SNV unknown KIAA1549L:NM_012194:exon14:c.G4299A:p.K1433K, KIAA1549L:uc021qfs.1:exon14:c.G4299A:p.K1433K, UNKNOWN Het;G>A 1577;80|71 Het;G>A 1503;60|71 Hom;G>A 3476;1|129 N N - 11 33640104 33640104 A C snp synonymous SNV A4414C R1472R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs768474 0.745607 0.7330 0.6865 1 0 0 exonic exonic exonic KIAA1549L KIAA1549L ENSG00000110427 synonymous SNV synonymous SNV unknown KIAA1549L:NM_012194:exon15:c.A4414C:p.R1472R, KIAA1549L:uc021qfs.1:exon15:c.A4414C:p.R1472R, UNKNOWN Het;A>C 803;54|38 Het;A>C 852;27|40 Hom;A>C 2288;0|83 N N - 11 33667333 33667333 A G snp synonymous SNV A4620G T1540T polar,hydrophilic,neutral polar,hydrophilic,neutral KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs1033543 0.707668 0.7116 0.6534 1 0 0 exonic exonic exonic KIAA1549L KIAA1549L ENSG00000110427 synonymous SNV synonymous SNV unknown KIAA1549L:NM_012194:exon16:c.A4620G:p.T1540T, KIAA1549L:uc021qfs.1:exon16:c.A4620G:p.T1540T, UNKNOWN Het;A>G 1956;98|87 Het;A>G 1362;86|67 Hom;A>G 3713;3|137 N N - 11 33667596 33667596 T C snp intronic KIAA1549L D430041D05Rik ENSG00000110427 KIAA1549 like chr11:33563618-33695648 Suicide, Attempted; Heart Rate; Creatinine; Body Height; Alcoholism GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1549L https://www.uniprot.org/uniprot/Q6ZVL6 https://www.ncbi.nlm.nih.gov/omim/?term=612297 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1549L&submit=Quick%0D%3958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1549L rs1033542 0.608626 0.6204 0.6329 1 0 0 intronic intronic intronic KIAA1549L KIAA1549L ENSG00000110427 Na Na Na Na Na Na Het;T>C 216;24|11 Het;T>C 367;18|16 Hom;T>C 914;0|33 N N - 11 34356829 34356829 T G snp ncRNA_exonic AL139174.1 rs1886656 0.660343 0 0 1 0 0 intronic intronic ncRNA_exonic ABTB2 ABTB2 ENSG00000254708 Na Na Na Na Na Na Het;T>G 737;15|32 Het;T>G 254;16|12 Hom;T>G 1526;1|56 N N - 11 34426347 34426347 G A snp ncRNA_exonic AL035079.1 rs7127624 0.609425 0 0 1 0 0 intergenic intergenic ncRNA_exonic ABTB2(dist=46792),CAT(dist=34125) ABTB2(dist=46792),CAT(dist=34125) ENSG00000220204 Na Na Na Na Na Na Het;G>A 134;2|4 Het;G>A 486;1|13 Hom;G>A 422;0|10 N N - 11 34426350 34426350 T A snp ncRNA_exonic AL035079.1 rs7113114 0.609425 0 0 1 0 0 intergenic intergenic ncRNA_exonic ABTB2(dist=46795),CAT(dist=34122) ABTB2(dist=46795),CAT(dist=34122) ENSG00000220204 Na Na Na Na Na Na Het;T>A 134;2|4 Het;T>A 463;1|12 Hom;T>A 422;0|10 N N - 11 34460472 34460472 A T snp UTR5 -89A>T CAT Cat ENSG00000121691 catalase chr11:34460472-34493609 This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] null; alcohol consumption; breast cancer; smoking cessation; lymphoma, Non-Hodgkin's; arsnic exposure; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Vitiligo; blood catalase levels; Type 2 diabetes; Poisoning; Coronary Disease; breast cancer ; Diabetes mellitus; catalase activity diabetes, gestational diabetes, type 1 diabetes, type 2; Malnutrition; Alzheimer's Disease; hypertension; Pregnancy Complications; Arthritis, Rheumatoid; Albuminuria|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Kidney Failure, Chronic; arsenic-induced hyperkeratosis; colorectal cancer; leukemia; Asthma|; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Delayed Graft Function; alcohol abuse; diabetes, type 2; retinopathy, diabetic; nephropathy in other diseases; catalase activity; diabetes, type 1; cognitive trait; Diabetes Complications|pancreatic neoplasm|Pancreatic Neoplasms; Aging/ Telomere Length; pancreatitis, chronic; normal variation; Cardiovascular Diseases; asthma; diabetic neuropathy; diabetes, type 2; Dyslipidemias|Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; pancreatitis; Albuminuria|Inflammation|Kidney Diseases; Carcinoma, Hepatocellular|Liver Cirrhosis, Alcoholic|Liver Neoplasms; Osteonecrosis; Mouth Neoplasms|Substance-Related Disorders; hyperkeratosis; catalase activity chronic obstructive pulmonary disease/COPD; radiotoxicity; Hypertension; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma|Sunburn; prostate cancer; longevity; macular degeneration; DNA Damage; Alzheimer's disease; lung cancer; gastric atrophy gastric disease; hearing loss/deafness; bone density; atherosclerosis; Glucose Intolerance; Pseudoxanthoma Elasticum; Brain Neoplasms|Occupational Diseases; vitiligo susceptibility; vitiligo; diabetes, type 2 diabetic nephropathy heart disease, ischemic retinopathy, diabetic; Respiratory Tract Diseases; Black carbon exposure; Asbestosis|; head and neck cancer; lung function; Lupus Erythematosus, Systemic; erythrocyte catalase activity; chronic obstructive pulmonary disease; Pulmonary Disease, Chronic Obstructive Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration. Neutrophil degranulation GO:0000302;response to reactive oxygen species;IMP|GO:0001649;osteoblast differentiation;IDA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001822;kidney development;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007568;aging;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009060;aerobic respiration;IEA|GO:0009314;response to radiation;IEA|GO:0009411;response to UV;IEA|GO:0009636;response to toxic substance;IEA|GO:0009642;response to light intensity;IEA|GO:0009650;UV protection;IMP|GO:0010193;response to ozone;IEA|GO:0010288;response to lead ion;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014823;response to activity;IEA|GO:0014854;response to inactivity;IEA|GO:0020027;hemoglobin metabolic process;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0032355;response to estradiol;IEA|GO:0032868;response to insulin;IEA|GO:0033189;response to vitamin A;IEA|GO:0033197;response to vitamin E;IEA|GO:0033591;response to L-ascorbic acid;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IBA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0046686;response to cadmium ion;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051262;protein tetramerization;IDA|GO:0051289;protein homotetramerization;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0055093;response to hyperoxia;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070542;response to fatty acid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0080184;response to phenylpropanoid;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005764;lysosome;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004046;aminoacylase activity;IEA|GO:0004096;catalase activity;TAS|GO:0004601;peroxidase activity;IEA|GO:0005102;receptor binding;IPI|GO:0016209;antioxidant activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016684;oxidoreductase activity, acting on peroxide as acceptor;IEA|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0050661;NADP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CAT https://www.uniprot.org/uniprot/P04040 https://hpo.jax.org/app/browse/search?q=CAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=115500 http://www.informatics.jax.org/searchtool/Search.do?query=CAT&submit=Quick%0D%5337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAT rs7943316 0.488019 0 0 1 0 0 UTR5 UTR5 UTR5 CAT(NM_001752:c.-89A>T) CAT(uc001mvm.3:c.-89A>T) ENSG00000121691(ENST00000241052:c.-89A>T) Na Na Na Na Na Na Het;A>T 516;19|22 Het;A>T 377;15|17 Hom;A>T 1245;0|45 N N - 11 34460541 34460541 T C snp UTR5 -20T>C CAT Cat ENSG00000121691 catalase chr11:34460472-34493609 This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] null; alcohol consumption; breast cancer; smoking cessation; lymphoma, Non-Hodgkin's; arsnic exposure; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Vitiligo; blood catalase levels; Type 2 diabetes; Poisoning; Coronary Disease; breast cancer ; Diabetes mellitus; catalase activity diabetes, gestational diabetes, type 1 diabetes, type 2; Malnutrition; Alzheimer's Disease; hypertension; Pregnancy Complications; Arthritis, Rheumatoid; Albuminuria|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Kidney Failure, Chronic; arsenic-induced hyperkeratosis; colorectal cancer; leukemia; Asthma|; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Delayed Graft Function; alcohol abuse; diabetes, type 2; retinopathy, diabetic; nephropathy in other diseases; catalase activity; diabetes, type 1; cognitive trait; Diabetes Complications|pancreatic neoplasm|Pancreatic Neoplasms; Aging/ Telomere Length; pancreatitis, chronic; normal variation; Cardiovascular Diseases; asthma; diabetic neuropathy; diabetes, type 2; Dyslipidemias|Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; pancreatitis; Albuminuria|Inflammation|Kidney Diseases; Carcinoma, Hepatocellular|Liver Cirrhosis, Alcoholic|Liver Neoplasms; Osteonecrosis; Mouth Neoplasms|Substance-Related Disorders; hyperkeratosis; catalase activity chronic obstructive pulmonary disease/COPD; radiotoxicity; Hypertension; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma|Sunburn; prostate cancer; longevity; macular degeneration; DNA Damage; Alzheimer's disease; lung cancer; gastric atrophy gastric disease; hearing loss/deafness; bone density; atherosclerosis; Glucose Intolerance; Pseudoxanthoma Elasticum; Brain Neoplasms|Occupational Diseases; vitiligo susceptibility; vitiligo; diabetes, type 2 diabetic nephropathy heart disease, ischemic retinopathy, diabetic; Respiratory Tract Diseases; Black carbon exposure; Asbestosis|; head and neck cancer; lung function; Lupus Erythematosus, Systemic; erythrocyte catalase activity; chronic obstructive pulmonary disease; Pulmonary Disease, Chronic Obstructive Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration. Neutrophil degranulation GO:0000302;response to reactive oxygen species;IMP|GO:0001649;osteoblast differentiation;IDA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001822;kidney development;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007568;aging;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009060;aerobic respiration;IEA|GO:0009314;response to radiation;IEA|GO:0009411;response to UV;IEA|GO:0009636;response to toxic substance;IEA|GO:0009642;response to light intensity;IEA|GO:0009650;UV protection;IMP|GO:0010193;response to ozone;IEA|GO:0010288;response to lead ion;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014823;response to activity;IEA|GO:0014854;response to inactivity;IEA|GO:0020027;hemoglobin metabolic process;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0032355;response to estradiol;IEA|GO:0032868;response to insulin;IEA|GO:0033189;response to vitamin A;IEA|GO:0033197;response to vitamin E;IEA|GO:0033591;response to L-ascorbic acid;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IBA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0046686;response to cadmium ion;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051262;protein tetramerization;IDA|GO:0051289;protein homotetramerization;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0055093;response to hyperoxia;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070542;response to fatty acid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0080184;response to phenylpropanoid;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005764;lysosome;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004046;aminoacylase activity;IEA|GO:0004096;catalase activity;TAS|GO:0004601;peroxidase activity;IEA|GO:0005102;receptor binding;IPI|GO:0016209;antioxidant activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016684;oxidoreductase activity, acting on peroxide as acceptor;IEA|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0050661;NADP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CAT https://www.uniprot.org/uniprot/P04040 https://hpo.jax.org/app/browse/search?q=CAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=115500 http://www.informatics.jax.org/searchtool/Search.do?query=CAT&submit=Quick%0D%5337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAT rs1049982 0.528754 0.6311 0.6749 1 0 0 UTR5 UTR5 UTR5 CAT(NM_001752:c.-20T>C) CAT(uc001mvm.3:c.-20T>C) ENSG00000121691(ENST00000241052:c.-20T>C) Na Na Na Na Na Na Het;T>C 1463;68|64 Het;T>C 1253;56|56 Hom;T>C 3816;0|142 N N - 11 3529238 3529238 A G snp ncRNA_exonic LOC101927708 rs10767167 0.73143 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927708 LOC650368(dist=98860),AB231779(dist=109224) ENSG00000255367 Na Na Na Na Na Na Het;A>G 666;15|29 Het;A>G 827;23|37 Hom;A>G 1224;0|45 N N - 11 3529382 3529382 G T snp ncRNA_exonic LOC101927708 rs10834289 0.665535 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927708 LOC650368(dist=99004),AB231779(dist=109080) ENSG00000255367 Na Na Na Na Na Na Het;G>T 976;61|46 Het;G>T 1095;69|52 Hom;G>T 2995;0|107 N N - 11 3536343 3536343 G A snp ncRNA_exonic LOC101927708 rs4980402 0.694489 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927708 LOC650368(dist=105965),AB231779(dist=102119) ENSG00000255367 Na Na Na Na Na Na Het;G>A 584;32|25 Het;G>A 906;40|44 Hom;G>A 2043;1|76 N N - 11 3542048 3542048 T C snp ncRNA_intronic LOC101927708 rs7118235 0.650559 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927708 LOC650368(dist=111670),AB231779(dist=96414) ENSG00000254757,ENSG00000255367 Na Na Na Na Na Na Het;T>C 955;52|44 Het;T>C 1413;71|66 Hom;T>C 2845;0|104 N N - 11 3542154 3542154 T C snp ncRNA_intronic LOC101927708 rs7940136 0.709864 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927708 LOC650368(dist=111776),AB231779(dist=96308) ENSG00000254757,ENSG00000255367 Na Na Na Na Na Na Het;T>C 707;42|30 Het;T>C 948;40|39 Hom;T>C 1996;0|71 N N - 11 36298555 36298555 C T snp UTR3 *70G>A COMMD9 Commd9 ENSG00000110442 COMM domain containing 9 chr11:36295051-36310999 Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. Neddylation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COMMD9 https://www.uniprot.org/uniprot/Q9P000 https://www.ncbi.nlm.nih.gov/omim/?term=612299 http://www.informatics.jax.org/searchtool/Search.do?query=COMMD9&submit=Quick%0D%3962ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COMMD9 rs2289986 0.657149 0 0 1 0 0 intronic UTR3 intronic COMMD9 COMMD9(uc010rfb.1:c.*70G>A) ENSG00000110442 Na Na Na Na Na Na Het;C>T 142;4|6 Het;C>T 51;11|4 Hom;C>T 492;0|19 N N - 11 36311014 36311014 G T snp upstream COMMD9 Commd9 ENSG00000110442 COMM domain containing 9 chr11:36295051-36310999 Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. Neddylation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COMMD9 https://www.uniprot.org/uniprot/Q9P000 https://www.ncbi.nlm.nih.gov/omim/?term=612299 http://www.informatics.jax.org/searchtool/Search.do?query=COMMD9&submit=Quick%0D%3962ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COMMD9 rs7939948 0.508387 0.5050 0.5114 1 0 0 upstream upstream upstream COMMD9 COMMD9 ENSG00000110442 Na Na Na Na Na Na Het;G>T 962;33|42 Het;G>T 766;45|36 Hom;G>T 2342;0|86 N N - 11 36459130 36459130 T C snp intronic PRR5L Prr5l ENSG00000135362 proline rich 5 like chr11:36317838-36486754 Acquired Immunodeficiency Syndrome|Disease Progression; Creatinine; Alcoholism GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010762;regulation of fibroblast migration;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0034599;cellular response to oxidative stress;IMP|GO:0038203;TORC2 signaling;IDA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0090316;positive regulation of intracellular protein transport;IMP GO:0005739;mitochondrion;IEA|GO:0031932;TORC2 complex;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRR5L https://www.uniprot.org/uniprot/Q6MZQ0 https://www.ncbi.nlm.nih.gov/omim/?term=611728 http://www.informatics.jax.org/searchtool/Search.do?query=PRR5L&submit=Quick%0D%7131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR5L rs4756316 0.611422 0 0 1 0 0 intronic intronic intronic PRR5L PRR5L ENSG00000135362 Na Na Na Na Na Na Het;T>C 225;8|8 Het;T>C 199;17|7 Hom;T>C 534;0|14 N N - 11 3659993 3659993 G T snp nonsynonymous SNV C851A T284K polar,hydrophilic,neutral polar,hydrophilic,charged(+) ART5 Art5 ENSG00000167311 ADP-ribosyltransferase 5 chr11:3659733-3663546 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] GO:0006471;protein ADP-ribosylation;IEA GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0003953;NAD+ nucleosidase activity;IEA|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART5 https://www.ncbi.nlm.nih.gov/omim/?term=610625 http://www.informatics.jax.org/searchtool/Search.do?query=ART5&submit=Quick%0D%11993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART5 rs2271586 0.299521 0.3085 0.2237 0.08 1 13 exonic exonic exonic ART5 ART5 ENSG00000167311 nonsynonymous SNV nonsynonymous SNV unknown ART5:NM_053017:exon4:c.C851A:p.T284K,ART5:NM_001079536:exon5:c.C851A:p.T284K, ART5:uc001lyb.1:exon4:c.C851A:p.T284K,ART5:uc001lyc.1:exon5:c.C851A:p.T284K, UNKNOWN Het;G>T 1457;95|62 Het;G>T 1838;79|80 Hom;G>T 4392;2|152 N N - 11 38475988 38475988 G A snp intergenic C11orf74 B230118H07Rik ENSG00000166352 chromosome 11 open reading frame 74 chr11:36616051-36694823 This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] benzene haematotoxicity; Hematocrit; Arteries; Cell Adhesion Molecules; Hemoglobins; Inflammation; Body Mass Index; Erythrocyte Count; Memory; Albumins Homozygous deletion of one of two alternative first exons and its promoter has no obvious phenotypic effect. GO:0005929;cilium;IEA http://www.genecards.org/index.php?path=/Search/keyword/C11orf74 http://www.informatics.jax.org/searchtool/Search.do?query=C11orf74&submit=Quick%0D%11770ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf74 rs10836984 0.594449 0 0 1 0 0 intergenic intergenic intergenic C11orf74(dist=1795147),LOC103312105(dist=163826) NONE(dist=NONE),LRRC4C(dist=1659763) ENSG00000254784(dist=241639),ENSG00000255477(dist=44557) Na Na Na Na Na Na Het;G>A 102;21|7 Het;G>A 439;50|26 Hom;G>A 1961;0|79 N N - 11 40076847 40076847 A T snp intergenic LINC01493 rs1462185 0.545327 0 0 1 0 0 intergenic intergenic intergenic LINC01493(dist=1400048),LRRC4C(dist=58904) NONE(dist=NONE),LRRC4C(dist=58904) ENSG00000270588(dist=180909),ENSG00000255347(dist=28413) Na Na Na Na Na Na Het;A>T 53;2|4 Het;A>T 219;2|11 Hom;A>T 160;0|7 N N - 11 40764767 40764767 C T snp intronic LRRC4C Lrrc4c ENSG00000148948 leucine rich repeat containing 4C chr11:40135753-41481323 NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008] Lipoproteins, VLDL; Cholesterol, LDL; Insulin; Tunica Media; Fibrinogen; Body Height; Asthma; Sleep; Albuminuria; Intuition; Tobacco Use Disorder; Insulin Resistance; Hip; Mental Competency; Magnesium Homozygous mutant mice exhibited an increased mean serum IL-6 response to LPS challenge when compared with controls. No other notable phenotype was detected in a high-througput screen. GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050770;regulation of axonogenesis;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LRRC4C https://www.uniprot.org/uniprot/Q9HCJ2 https://www.ncbi.nlm.nih.gov/omim/?term=608817 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC4C&submit=Quick%0D%9178ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC4C rs10837493 0.313099 0 0 1 0 0 intronic intronic intronic LRRC4C LRRC4C ENSG00000148948 Na Na Na Na Na Na Het;C>T 56;14|3 Het;C>T 864;7|22 Hom;C>T 851;0|20 N N - 11 40764768 40764768 A G snp intronic LRRC4C Lrrc4c ENSG00000148948 leucine rich repeat containing 4C chr11:40135753-41481323 NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008] Lipoproteins, VLDL; Cholesterol, LDL; Insulin; Tunica Media; Fibrinogen; Body Height; Asthma; Sleep; Albuminuria; Intuition; Tobacco Use Disorder; Insulin Resistance; Hip; Mental Competency; Magnesium Homozygous mutant mice exhibited an increased mean serum IL-6 response to LPS challenge when compared with controls. No other notable phenotype was detected in a high-througput screen. GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050770;regulation of axonogenesis;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LRRC4C https://www.uniprot.org/uniprot/Q9HCJ2 https://www.ncbi.nlm.nih.gov/omim/?term=608817 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC4C&submit=Quick%0D%9178ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC4C rs10837494 0.313498 0 0 1 0 0 intronic intronic intronic LRRC4C LRRC4C ENSG00000148948 Na Na Na Na Na Na Het;A>G 56;14|3 Het;A>G 864;7|22 Hom;A>G 851;0|19 N N - 11 41681560 41681560 T C snp ncRNA_intronic AC021006.2 rs7131200 0.767173 0 0 1 0 0 intergenic intergenic ncRNA_intronic LRRC4C(dist=200374),LINC01499(dist=54558) LRRC4C(dist=200374),LOC100507205(dist=527733) ENSG00000255388 Na Na Na Na Na Na Het;T>C 408;19|20 Het;T>C 437;21|20 Hom;T>C 1253;0|46 N N - 11 41842777 41842777 T TAC indel ncRNA_intronic LINC01499 rs140071806 0.469449 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01499 LRRC4C(dist=361591),LOC100507205(dist=366516) ENSG00000255171 Na Na Na Na Na Na Het;+AC 321;9|10 Het;+AC 441;14|13 Hom;+AC 1097;0|27 N N - 11 41842844 41842844 A T snp ncRNA_exonic LINC01499 rs1877023 0.385982 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01499 LRRC4C(dist=361658),LOC100507205(dist=366449) ENSG00000255171 Na Na Na Na Na Na Het;A>T 581;40|32 Het;A>T 660;52|34 Hom;A>T 2871;0|111 N N - 11 42209292 42209292 T G snp ncRNA_exonic AC090458.1 rs901894 0.366014 0 0.3345 1 0 0 downstream downstream ncRNA_exonic LOC100507205 LOC100507205 ENSG00000255109 Na Na Na Na Na Na Het;T>G 1876;89|87 Het;T>G 1329;64|59 Hom;T>G 5086;1|188 N N - 11 44219286 44219286 C T snp intronic EXT2 Ext2 ENSG00000151348 exostosin glycosyltransferase 2 chr11:44117099-44266979 This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] Hereditary multiple exostoses; Type 2 Diabetes| edema | rosiglitazone; osteochondromas; hereditary multiple exostoses; Bone Mineral Density; Hemoglobins; Diabetes Mellitus, Type 2|Hyperglycemia; Hematocrit; Coronary Disease; diabetes, type 2; Tobacco Use Disorder; Type 2 diabetes; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs. HS-GAG biosynthesis GO:0001503;ossification;IMP|GO:0001707;mesoderm formation;IEA|GO:0006024;glycosaminoglycan biosynthetic process;IEA|GO:0006486;protein glycosylation;IEA|GO:0007165;signal transduction;TAS|GO:0015012;heparan sulfate proteoglycan biosynthetic process;IEA|GO:0015014;heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process;IMP|GO:0030154;cell differentiation;IEA|GO:0033692;cellular polysaccharide biosynthetic process;IDA GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043541;UDP-N-acetylglucosamine transferase complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008375;acetylglucosaminyltransferase activity;IDA|GO:0015020;glucuronosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IDA|GO:0042328;heparan sulfate N-acetylglucosaminyltransferase activity;NAS|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0050508;glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity;IEA|GO:0050509;N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/EXT2 https://www.uniprot.org/uniprot/Q93063 https://hpo.jax.org/app/browse/search?q=EXT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608210 http://www.informatics.jax.org/searchtool/Search.do?query=EXT2&submit=Quick%0D%9406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXT2 rs4755233 0.505391 0 0 1 0 0 intronic intronic intronic EXT2 EXT2 ENSG00000151348 Na Na Na Na Na Na Het;C>T 226;1|8 Het;C>T 199;3|7 Hom;C>T 187;0|6 N N - 11 50055998 50055998 G A snp intergenic OR4C12 Olfr1255 ENSG00000284255 olfactory receptor family 4 subfamily C member 12 chr11:50003009-50004071 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] http://www.genecards.org/index.php?path=/Search/keyword/OR4C12 http://www.informatics.jax.org/searchtool/Search.do?query=OR4C12&submit=Quick%0D%22964ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4C12 rs28679516 0.438698 0 0 1 0 0 intergenic intergenic intergenic OR4C12(dist=51927),LOC441601(dist=183001) OR4C12(dist=51927),TRNA_Ala(dist=177881) ENSG00000221954(dist=51927),ENSG00000255199(dist=4065) Na Na Na Na Na Na Het;G>A 214;4|8 Ref Hom;G>A 91;0|3 N N - 11 51451441 51451441 A G snp ncRNA_exonic OR4A2P rs561951 0.428115 0 0 1 0 0 intergenic intergenic ncRNA_exonic OR4A5(dist=38993),OR4C46(dist=63841) OR4A5(dist=38993),OR4C46(dist=63841) ENSG00000227547 Na Na Na Na Na Na Het;A>G 48;2|3 Ref Hom;A>G 141;0|6 N N - 11 58085356 58085356 A G snp ncRNA_exonic OR5BC1P rs7110650 0.954872 0 0 1 0 0 intergenic intergenic ncRNA_exonic OR10W1(dist=49624),OR5B17(dist=40242) OR10W1(dist=49624),OR5B17(dist=40242) ENSG00000255218 Na Na Na Na Na Na Het;A>G 91;1|4 Ref Hom;A>G 71;0|4 N N - 11 60264755 60264755 G A snp intronic MS4A12 Ms4a12 ENSG00000071203 membrane spanning 4-domains A12 chr11:60260251-60274903 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MS4A12 https://www.uniprot.org/uniprot/Q9NXJ0 https://www.ncbi.nlm.nih.gov/omim/?term=606550 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A12&submit=Quick%0D%1391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A12 rs2298551 0.621805 0.5548 0.5752 1 0 0 intronic intronic intronic MS4A12 MS4A12 ENSG00000071203 Na Na Na Na Na Na Het;G>A 610;17|24 Het;G>A 390;21|17 Hom;G>A 1354;0|43 N N - 11 60264947 60264947 C T snp synonymous SNV C156T Y52Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic MS4A12 Ms4a12 ENSG00000071203 membrane spanning 4-domains A12 chr11:60260251-60274903 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MS4A12 https://www.uniprot.org/uniprot/Q9NXJ0 https://www.ncbi.nlm.nih.gov/omim/?term=606550 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A12&submit=Quick%0D%1391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A12 rs2298552 0.615415 0.5507 0.5729 1 0 0 exonic exonic exonic MS4A12 MS4A12 ENSG00000071203 synonymous SNV synonymous SNV unknown MS4A12:NM_017716:exon2:c.C156T:p.Y52Y,MS4A12:NM_001164470:exon2:c.C156T:p.Y52Y, MS4A12:uc001npr.3:exon2:c.C156T:p.Y52Y,MS4A12:uc021qkb.1:exon2:c.C156T:p.Y52Y,MS4A12:uc009ynb.3:exon3:c.C156T:p.Y52Y, UNKNOWN Het;C>T 1399;85|61 Het;C>T 1083;49|44 Hom;C>T 3913;0|139 N N - 11 60265164 60265164 G A snp UTR3 *13G>A MS4A12 Ms4a12 ENSG00000071203 membrane spanning 4-domains A12 chr11:60260251-60274903 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MS4A12 https://www.uniprot.org/uniprot/Q9NXJ0 https://www.ncbi.nlm.nih.gov/omim/?term=606550 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A12&submit=Quick%0D%1391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A12 rs2298554 0.61861 0 0.6131 1 0 0 intronic UTR3 intronic MS4A12 MS4A12(uc009ynb.3:c.*13G>A) ENSG00000071203 Na Na Na Na Na Na Het;G>A 410;18|17 Het;G>A 172;18|10 Hom;G>A 792;0|25 N N - 11 60268736 60268736 C A snp intronic MS4A12 Ms4a12 ENSG00000071203 membrane spanning 4-domains A12 chr11:60260251-60274903 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MS4A12 https://www.uniprot.org/uniprot/Q9NXJ0 https://www.ncbi.nlm.nih.gov/omim/?term=606550 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A12&submit=Quick%0D%1391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A12 rs2298555 0.621605 0 0 1 0 0 intronic intronic intronic MS4A12 MS4A12 ENSG00000071203 Na Na Na Na Na Na Het;C>A 372;12|15 Het;C>A 487;14|18 Hom;C>A 681;0|22 N N - 11 60285528 60285528 T G snp intronic MS4A13 Ms4a13 ENSG00000204979 membrane spanning 4-domains A13 chr11:60282886-60310194 Male mice homozygous for a mutation are viable and show normal fertility. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MS4A13 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A13&submit=Quick%0D%17446ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A13 rs10897078 0.275559 0.1954 0.1904 1 0 0 intronic intronic intronic MS4A13 MS4A13 ENSG00000204979 Na Na Na Na Na Na Het;T>G 1931;33|52 Het;T>G 1875;52|52 Hom;T>G 3384;0|96 N N - 11 60482329 60482329 T C snp intronic MS4A8 Ms4a8a ENSG00000166959 membrane spanning 4-domains A8 chr11:60467047-60483284 This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MS4A8 https://www.ncbi.nlm.nih.gov/omim/?term=606549 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A8&submit=Quick%0D%11918ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A8 rs2306836 0.263379 0 0 1 0 0 intronic intronic intronic MS4A8 MS4A8 ENSG00000166959 Na Na Na Na Na Na Het;T>C 299;6|9 Het;T>C 79;1|3 Hom;T>C 377;0|10 N N - 11 60504436 60504436 T C snp ncRNA_intronic AB231761 rs2077227 0.141573 0 0.1555 1 0 0 intergenic ncRNA_intronic intronic MS4A8(dist=21151),MS4A15(dist=19904) AB231761 ENSG00000214782 Na Na Na Na Na Na Het;T>C 1009;39|57 Het;T>C 871;32|50 Hom;T>C 2522;0|107 N N - 11 60511059 60511059 A T snp intronic AP004243.1 rs11821421 0.235224 0 0 1 0 0 intergenic intergenic intronic MS4A8(dist=27774),MS4A15(dist=13281) AB231761(dist=4643),MS4A15(dist=13281) ENSG00000214782 Na Na Na Na Na Na Het;A>T 368;7|13 Het;A>T 308;11|13 Hom;A>T 488;1|16 N N - 11 63175800 63175800 A G snp intronic SLC22A9 ENSG00000149742 solute carrier family 22 member 9 chr11:63137261-63177766 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0009914;hormone transport;IDA|GO:0015698;inorganic anion transport;IEA|GO:0015747;urate transport;IBA|GO:0015913;short-chain fatty acid import;IDA|GO:0043252;sodium-independent organic anion transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1903825;organic acid transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA GO:0005452;inorganic anion exchanger activity;IBA|GO:0015143;urate transmembrane transporter activity;IBA|GO:0015301;anion:anion antiporter activity;IDA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;IDA|GO:0015636;short-chain fatty acid uptake transporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A9 https://www.uniprot.org/uniprot/Q8IVM8 https://www.ncbi.nlm.nih.gov/omim/?term=607579 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A9&submit=Quick%0D%9276ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A9 rs7109920 0.596046 0 0 1 0 0 intronic intronic intronic SLC22A9 SLC22A9 ENSG00000149742 Na Na Na Na Na Na Het;A>G 65;7|3 Ref Hom;A>G 360;0|12 N N - 11 63176367 63176367 G A snp intronic SLC22A9 ENSG00000149742 solute carrier family 22 member 9 chr11:63137261-63177766 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0009914;hormone transport;IDA|GO:0015698;inorganic anion transport;IEA|GO:0015747;urate transport;IBA|GO:0015913;short-chain fatty acid import;IDA|GO:0043252;sodium-independent organic anion transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1903825;organic acid transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA GO:0005452;inorganic anion exchanger activity;IBA|GO:0015143;urate transmembrane transporter activity;IBA|GO:0015301;anion:anion antiporter activity;IDA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;IDA|GO:0015636;short-chain fatty acid uptake transporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A9 https://www.uniprot.org/uniprot/Q8IVM8 https://www.ncbi.nlm.nih.gov/omim/?term=607579 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A9&submit=Quick%0D%9276ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A9 rs4088469 0.534944 0.3288 0.3717 1 0 0 intronic intronic intronic SLC22A9 SLC22A9 ENSG00000149742 Na Na Na Na Na Na Het;G>A 892;23|34 Het;G>A 552;25|25 Hom;G>A 1149;0|39 N N - 11 63177242 63177242 A AT indel intronic SLC22A9 ENSG00000149742 solute carrier family 22 member 9 chr11:63137261-63177766 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0009914;hormone transport;IDA|GO:0015698;inorganic anion transport;IEA|GO:0015747;urate transport;IBA|GO:0015913;short-chain fatty acid import;IDA|GO:0043252;sodium-independent organic anion transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1903825;organic acid transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA GO:0005452;inorganic anion exchanger activity;IBA|GO:0015143;urate transmembrane transporter activity;IBA|GO:0015301;anion:anion antiporter activity;IDA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;IDA|GO:0015636;short-chain fatty acid uptake transporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A9 https://www.uniprot.org/uniprot/Q8IVM8 https://www.ncbi.nlm.nih.gov/omim/?term=607579 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A9&submit=Quick%0D%9276ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A9 rs398075986 0.533946 0.3293 0.3798 1 0 0 intronic intronic intronic SLC22A9 SLC22A9 ENSG00000149742 Na Na Na Na Na Na Het;+T 1044;61|47 Het;+T 1467;60|62 Hom;+T 4342;0|146 N N - 11 636689 636689 G C snp upstream DRD4 Drd4 ENSG00000276825 dopamine receptor D4 chr11:637293-640706 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008] obesity; affective disorder; sexual behavior; ADHD; obsessive compulsive disorder; Substance-Related Disorders; toddlers externalizing behavior; pharmacogenetic studies; colorectal cancer; suicide attempt; impulse control disorder; nicotine dependence; cotinine; depression; continuous performance task; anger and forgiveness traits; Socioeconomic status; alcohol abuse; alcoholism; psychotic disorders; Tobacco Use Disorder; attention deficit hyperactivity disorder; intelligence; hormone disturbance; smoking behavior; personality disorders; Major Psychoses; major psychoses; body mass; Prenatal Exposure Delayed Effects; risperidone and perospirone; schizophrenia; bipolar disorder; affective disorder; attention deficit hyperactivity disorder externalizing behavior IQ; Weight Gain; temperament traits; bladder cancer; preeclampsia; Nocturnal Enuresis; Type 2 Diabetes| edema | rosiglitazone; social behavior; Parkinson's disease; sleep disorders; cholesterol, HDL; triglycerides; personality trait; tardive dyskinesia; attention problems; schizophrenia; personality traits; personality; lung cancer ; Obesity; BMI; headache; normal variation; tic disorder, chronic; novelty seeking; Down Syndrome; Heroin Dependence; P300 event-related potentials; bipolar disorder depressive disorder, major; Autism; schizophrenia with aggressive behavior; child behavior; bipolar disorder; depression; cognitive function; alcohol craving cue-reactivity; Parkinson's disease; Attention Defict/ Hyperactivity Disorder; Psychiatric Disorders; alcohol abuse; blood pressure, arterial; bipolar disorder; major depressive disorder; rapid cycling mood disorder; smoking cues; Tourette syndrome; personality traits; BP-Major Depressive; methamphetamine abuse; attention deficit hyperactivity disorder methyphenidate side-effects; Heroin Dependence|Pain; personality trait, 'Novelty Seeking'; suicide; Hypercholesterolemia|LDLC levels; heroin abuse; neuroticism; schizophrenia; bipolar disorder; psychoses; mood disorders; ADHD | attention-deficit hyperactivity disorder; externalizing behavior ; schizophrenia; attention deficit disorder conduct disorder oppositional defiant disorder; juvenile endogenous attack-like psychoses; Parkinson's Disease; lung cancer; Migraine Disorders; temperament in early childhood; alcohol abuse smoking behavior; Alcoholism; bipolar disorder; affective psychoses; temperament in 3-year-old infants; cognitive ability; financial risk taking; attention-deficit hyperactivity disorder; disorganized attachment behavior; academic achievement personality traits; depressive disorder, major; null; smoking behavior weight gain; substance abuse; psychosis; attention deficit hyperactivity disorder behavior disorder; shyness; Psychoses, Substance-Induced; fear during childbirth; Pregnancy Complications|Tic disorder|Tic Disorders; drug abuse; alcohol; mood disorder; bone density; impulsivity; Novelty Seeking; bipolar disorder; craving; schizophrenia; depressive disorder, major; bipolar disorder; delusional disorder; psychosis; methamphetamine use; Atrophy|Disorders; Child Temperament; pathological gambling; antisocial behavior conduct disorder; P300 amplitudes; attention deficit hyperactivity disorder schizotypal personality traits; attachment disorganization; clozapine, response to; chronic obstructive pulmonary disease; Obesity|Weight Gain; Alzheimer's disease ; Malnutrition; novelty processing; Tic disorder|Tic Disorders; daily hassles; hyperkinetic disorder; side-effects of clozapine; longevity; weight gain; obesity; dyslexia; anorexia nervosa perfectionism; autism; Parkinson's disease ; behavior problems; infant disorganization; temperament; alcohol consumption; hyperkinetic conduct disorder; personality trait of spritual acceptance; adaptability trait; migraine; psychoses; aggressive behavior oppositional disorder; disorganized attachment; Bulimia; Schizophrenia; antisocial personality disorder attention deficit hyperactivity disorder; dopaminergic activity; Retinoblastoma Homozygous mutants are less active in open field tests and have reduced responses to novelty. However, mice exhibit locomotor supersensitivity to ethanol, cocaine, and methamphetamine. GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004952;dopamine neurotransmitter receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DRD4 https://www.ncbi.nlm.nih.gov/omim/?term=126452 http://www.informatics.jax.org/searchtool/Search.do?query=DRD4&submit=Quick%0D%21694ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DRD4 rs747302 0.457268 0 0 1 0 0 upstream upstream upstream DRD4 DRD4 ENSG00000069696 Na Na Na Na Na Na Het;G>C 161;2|6 Ref Hom;G>C 107;0|3 N N - 11 63680045 63680045 C A snp intronic RCOR2 Rcor2 ENSG00000167771 REST corepressor 2 chr11:63678693-63684316 Mice homozygous for neuronal specific conditional loss of expression display impaired neurogenesis and neuronal precursor cell proliferation resulting in a thin cerebral cortex. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0017053;transcriptional repressor complex;IBA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0008134;transcription factor binding;IBA|GO:0019899;enzyme binding;IEA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=616019 http://www.informatics.jax.org/searchtool/Search.do?query=RCOR2&submit=Quick%0D%12111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RCOR2 rs320109 0.345248 0.4210 0.4058 1 0 0 intronic intronic intronic RCOR2 RCOR2 ENSG00000167771 Na Na Na Na Na Na Het;C>A 811;26|28 Het;C>A 485;28|19 Hom;C>A 1106;0|35 N N - 11 63682317 63682318 TG T indel intronic RCOR2 Rcor2 ENSG00000167771 REST corepressor 2 chr11:63678693-63684316 Mice homozygous for neuronal specific conditional loss of expression display impaired neurogenesis and neuronal precursor cell proliferation resulting in a thin cerebral cortex. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0017053;transcriptional repressor complex;IBA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0008134;transcription factor binding;IBA|GO:0019899;enzyme binding;IEA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=616019 http://www.informatics.jax.org/searchtool/Search.do?query=RCOR2&submit=Quick%0D%12111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RCOR2 rs113350066 0.330272 0 0.3968 1 0 0 intronic intronic intronic RCOR2 RCOR2 ENSG00000167771 Na Na Na Na Na Na Het;-G 2617;59|76 Het;-G 1779;66|54 Hom;-G 4058;0|87 N N - 11 63682319 63682319 A C snp intronic RCOR2 Rcor2 ENSG00000167771 REST corepressor 2 chr11:63678693-63684316 Mice homozygous for neuronal specific conditional loss of expression display impaired neurogenesis and neuronal precursor cell proliferation resulting in a thin cerebral cortex. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0017053;transcriptional repressor complex;IBA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0008134;transcription factor binding;IBA|GO:0019899;enzyme binding;IEA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=616019 http://www.informatics.jax.org/searchtool/Search.do?query=RCOR2&submit=Quick%0D%12111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RCOR2 rs57942405 0.330272 0 0.3968 1 0 0 intronic intronic intronic RCOR2 RCOR2 ENSG00000167771 Na Na Na Na Na Na Het;A>C 2626;59|76 Het;A>C 1788;67|54 Hom;A>C 3887;0|86 N N - 11 63713317 63713317 G A snp synonymous SNV G12A K4K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NAA40 Naa40 ENSG00000110583 N(alpha)-acetyltransferase 40, NatD catalytic subunit chr11:63706431-63724800 Mice homozygous for a conditional allele activated in hepatocytes exhibit protection from age-induced but not high fat diet-induced steatosis with altered lipid homeostasis. GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0008080;N-acetyltransferase activity;IEA|GO:0010485;H4 histone acetyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0043998;H2A histone acetyltransferase activity;IDA|GO:1990189;peptide-serine-N-acetyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA40 https://www.uniprot.org/uniprot/Q86UY6 http://www.informatics.jax.org/searchtool/Search.do?query=NAA40&submit=Quick%0D%3971ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA40 rs3740637 0.170128 0.2912 0.3089 1 0 0 exonic exonic exonic NAA40 NAA40 ENSG00000110583 synonymous SNV synonymous SNV unknown NAA40:NM_024771:exon2:c.G12A:p.K4K, NAA40:uc009yoz.3:exon2:c.G12A:p.K4K, UNKNOWN Het;G>A 810;73|44 Het;G>A 674;67|39 Hom;G>A 3071;4|121 N N - 11 63714319 63714319 T C snp UTR3 *15T>C NAA40 Naa40 ENSG00000110583 N(alpha)-acetyltransferase 40, NatD catalytic subunit chr11:63706431-63724800 Mice homozygous for a conditional allele activated in hepatocytes exhibit protection from age-induced but not high fat diet-induced steatosis with altered lipid homeostasis. GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0008080;N-acetyltransferase activity;IEA|GO:0010485;H4 histone acetyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0043998;H2A histone acetyltransferase activity;IDA|GO:1990189;peptide-serine-N-acetyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA40 https://www.uniprot.org/uniprot/Q86UY6 http://www.informatics.jax.org/searchtool/Search.do?query=NAA40&submit=Quick%0D%3971ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA40 rs4980500 0.170327 0 0.3900 1 0 0 intronic intronic UTR3 NAA40 NAA40 ENSG00000110583(ENST00000544138:c.*15T>C) Na Na Na Na Na Na Het;T>C 201;12|7 Het;T>C 237;6|10 Hom;T>C 424;1|14 N N - 11 63767186 63767186 A G snp synonymous SNV T714C S238S polar,hydrophilic,neutral polar,hydrophilic,neutral MACROD1 Macrod1 ENSG00000133315 MACRO domain containing 1 chr11:63766030-63933578 GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0042278;purine nucleoside metabolic process;IDA|GO:0051725;protein de-ADP-ribosylation;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IDA|GO:0019213;deacetylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MACROD1 https://www.uniprot.org/uniprot/Q9BQ69 https://www.ncbi.nlm.nih.gov/omim/?term=610400 http://www.informatics.jax.org/searchtool/Search.do?query=MACROD1&submit=Quick%0D%6825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MACROD1 rs709594 0.427915 0.5289 0.4204 1 0 0 exonic exonic exonic MACROD1 MACROD1 ENSG00000133315 synonymous SNV synonymous SNV unknown MACROD1:NM_014067:exon6:c.T714C:p.S238S, MACROD1:uc001nyh.3:exon6:c.T714C:p.S238S, UNKNOWN Het;A>G 890;50|45 Het;A>G 740;49|34 Hom;A>G 1752;0|65 N N - 11 63767249 63767249 C T snp intronic MACROD1 Macrod1 ENSG00000133315 MACRO domain containing 1 chr11:63766030-63933578 GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0042278;purine nucleoside metabolic process;IDA|GO:0051725;protein de-ADP-ribosylation;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IDA|GO:0019213;deacetylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MACROD1 https://www.uniprot.org/uniprot/Q9BQ69 https://www.ncbi.nlm.nih.gov/omim/?term=610400 http://www.informatics.jax.org/searchtool/Search.do?query=MACROD1&submit=Quick%0D%6825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MACROD1 rs11600062 0.170927 0.2654 0.3199 1 0 0 intronic intronic intronic MACROD1 MACROD1 ENSG00000133315,ENSG00000167770 Na Na Na Na Na Na Het;C>T 628;40|31 Het;C>T 376;49|22 Hom;C>T 993;0|34 N N - 11 65460477 65460477 C T snp intergenic RELA Rela ENSG00000173039 RELA proto-oncogene, NF-kB subunit chr11:65421067-65430565 NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] testicular cancer; breast cancer ; normal variation; HIV Infections|[X]Human immunodeficiency virus disease; Multiple Myeloma; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Arthritis, Rheumatoid|; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; benzene haematotoxicity; plasma HDL cholesterol (HDL-C) levels; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response Homozygous null mice are embryonic lethal due to hepatic apoptosis. TRAF6 mediated NF-kB activation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001889;liver development;IEA|GO:0001942;hair follicle development;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006117;acetaldehyde metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006952;defense response;IEA|GO:0006954;inflammatory response;IDA|GO:0006968;cellular defense response;NAS|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010033;response to organic substance;IDA|GO:0010035;response to inorganic substance;IEA|GO:0010224;response to UV-B;IDA|GO:0014040;positive regulation of Schwann cell differentiation;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016032;viral process;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031293;membrane protein intracellular domain proteolysis;TAS|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032570;response to progesterone;IEA|GO:0032868;response to insulin;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0033590;response to cobalamin;IEA|GO:0034097;response to cytokine;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IEA|GO:0035994;response to muscle stretch;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0043200;response to amino acid;IEA|GO:0043278;response to morphine;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046627;negative regulation of insulin receptor signaling pathway;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050862;positive regulation of T cell receptor signaling pathway;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051591;response to cAMP;IEA|GO:0051607;defense response to virus;NAS|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070431;nucleotide-binding oligomerization domain containing 2 signaling pathway;IDA|GO:0070555;response to interleukin-1;IGI|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071316;cellular response to nicotine;IMP|GO:0071347;cellular response to interleukin-1;IDA|GO:0071354;cellular response to interleukin-6;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071375;cellular response to peptide hormone stimulus;IMP|GO:1901222;regulation of NIK/NF-kappaB signaling;IGI|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:2000630;positive regulation of miRNA metabolic process;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0033256;I-kappaB/NF-kappaB complex;IBA|GO:0035525;NF-kappaB p50/p65 complex;IDA|GO:0043234;protein complex;IEA|GO:0071159;NF-kappaB complex;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IMP|GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IDA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0031490;chromatin DNA binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032403;protein complex binding;IEA|GO:0033613;activating transcription factor binding;IPI|GO:0042301;phosphate ion binding;IDA|GO:0042802;identical protein binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0042805;actinin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0051059;NF-kappaB binding;IPI|GO:0070491;repressing transcription factor binding;IPI|GO:0071532;ankyrin repeat binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RELA https://hpo.jax.org/app/browse/search?q=RELA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164014 http://www.informatics.jax.org/searchtool/Search.do?query=RELA&submit=Quick%0D%13279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELA rs7952133 0.292133 0 0 1 0 0 intergenic intergenic intergenic RELA(dist=30034),KAT5(dist=18996) RELA(dist=30034),KAT5(dist=18996) ENSG00000173039(dist=29912),ENSG00000239356(dist=2529) Na Na Na Na Na Na Het;C>T 190;4|8 Ref Hom;C>T 226;0|8 N N - 11 65744597 65744597 C T snp intronic SART1 Sart1 ENSG00000175467 SART1, U4/U6.U5 tri-snRNP-associated protein 1 chr11:65729160-65747299 This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008] prostate cancer mRNA Splicing - Major Pathway GO:0000387;spliceosomal snRNP assembly;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0000481;maturation of 5S rRNA;IBA|GO:0006397;mRNA processing;IEA|GO:0007050;cell cycle arrest;NAS|GO:0008380;RNA splicing;IEA|GO:0045292;mRNA cis splicing, via spliceosome;IBA|GO:0045585;positive regulation of cytotoxic T cell differentiation;IDA|GO:0097193;intrinsic apoptotic signaling pathway;NAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SART1 https://www.ncbi.nlm.nih.gov/omim/?term=605941 http://www.informatics.jax.org/searchtool/Search.do?query=SART1&submit=Quick%0D%13703ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SART1 rs7952056 0.232628 0.2814 0.3169 1 0 0 intronic intronic intronic SART1 SART1 ENSG00000175467 Na Na Na Na Na Na Het;C>T 585;23|28 Het;C>T 631;20|31 Hom;C>T 1224;0|45 N N - 11 65769456 65769456 A T snp UTR5 -1596T>A EIF1AD Eif1ad ENSG00000175376 eukaryotic translation initiation factor 1A domain containing chr11:65764016-65769647 GO:0006413;translational initiation;IEA GO:0005634;nucleus;IEA GO:0003723;RNA binding;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF1AD http://www.informatics.jax.org/searchtool/Search.do?query=EIF1AD&submit=Quick%0D%13691ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF1AD rs1047464 0.232827 0 0 1 0 0 UTR5 UTR5 UTR5 EIF1AD(NM_001242481:c.-1596T>A,NM_001242483:c.-1596T>A,NM_001242482:c.-1596T>A,NM_032325:c.-1596T>A) EIF1AD(uc021qlr.1:c.-1596T>A,uc001ogm.2:c.-1596T>A,uc021qls.1:c.-1596T>A,uc021qlu.1:c.-1596T>A) ENSG00000175376(ENST00000312234:c.-1596T>A,ENST00000533544:c.-1596T>A,ENST00000527249:c.-1596T>A,ENST00000532707:c.-1596T>A) Na Na Na Na Na Na Het;A>T 102;3|4 Het;A>T 61;5|3 Hom;A>T 371;0|13 N N - 11 66105194 66105194 G A snp nonsynonymous SNV C818T A273V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BRMS1 Brms1 ENSG00000174744 breast cancer metastasis suppressor 1 chr11:66104804-66112596 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] HDACs deacetylate histones GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009987;cellular process;IEA|GO:0016575;histone deacetylation;IBA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0090312;positive regulation of protein deacetylation;IDA|GO:2000210;positive regulation of anoikis;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0070822;Sin3-type complex;IBA GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0042826;histone deacetylase binding;IBA|GO:0051059;NF-kappaB binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BRMS1 https://www.ncbi.nlm.nih.gov/omim/?term=606259 http://www.informatics.jax.org/searchtool/Search.do?query=BRMS1&submit=Quick%0D%13569ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRMS1 rs1052566 0.266773 0.2248 0.3557 0.09 1 11 exonic exonic exonic BRMS1 BRMS1 ENSG00000174744 nonsynonymous SNV nonsynonymous SNV unknown BRMS1:NM_001024957:exon10:c.C818T:p.A273V, BRMS1:uc001oho.1:exon10:c.C818T:p.A273V, UNKNOWN Het;G>A 707;68|38 Het;G>A 1047;54|48 Hom;G>A 1598;0|57 N N - 11 66458696 66458696 C T snp intronic SPTBN2 Sptbn2 ENSG00000173898 spectrin beta, non-erythrocytic 2 chr11:66452719-66496697 Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] Spinocerebellar Ataxias Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;IEA|GO:0016192;vesicle-mediated transport;IDA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0021692;cerebellar Purkinje cell layer morphogenesis;IEA|GO:0030534;adult behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0043025;neuronal cell body;IEA GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005543;phospholipid binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN2 https://hpo.jax.org/app/browse/search?q=SPTBN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604985 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN2&submit=Quick%0D%13442ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN2 rs12804382 0.422324 0 0 1 0 0 intronic intronic intronic SPTBN2 SPTBN2 ENSG00000173898 Na Na Na Na Na Na Het;C>T 329;14|14 Het;C>T 272;11|13 Hom;C>T 354;1|15 N N - 11 67763554 67763554 A G snp intronic UNC93B1 Unc93b1 ENSG00000110057 unc-93 homolog B1 (C. elegans) chr11:67758575-67772452 This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014] HERPES SIMPLEX ENCEPHALITIS SUSCEPTIBILITY TO 1 Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. Trafficking and processing of endosomal TLR GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;ISS|GO:0034138;toll-like receptor 3 signaling pathway;IMP|GO:0034154;toll-like receptor 7 signaling pathway;IMP|GO:0034162;toll-like receptor 9 signaling pathway;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0000139;Golgi membrane;TAS|GO:0005764;lysosome;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032009;early phagosome;ISS|GO:0045335;phagocytic vesicle;IEA GO:0035325;Toll-like receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/UNC93B1 https://www.uniprot.org/uniprot/Q9H1C4 https://www.ncbi.nlm.nih.gov/omim/?term=608204 http://www.informatics.jax.org/searchtool/Search.do?query=UNC93B1&submit=Quick%0D%3918ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC93B1 rs2428816 0.914936 0 0 1 0 0 intronic intronic intronic UNC93B1 UNC93B1 ENSG00000110057 Na Na Na Na Na Na Het;A>G 76;2|5 Ref Hom;A>G 301;0|10 N N - 11 68331663 68331663 G A snp intronic PPP6R3 Ppp6r3 ENSG00000110075 protein phosphatase 6 regulatory subunit 3 chr11:68228186-68382802 Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] COPII (Coat Protein 2) Mediated Vesicle Transport GO:0006516;glycoprotein catabolic process;IEA|GO:0043666;regulation of phosphoprotein phosphatase activity;IDA|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R3 https://www.uniprot.org/uniprot/Q5H9R7 https://www.ncbi.nlm.nih.gov/omim/?term=610879 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R3&submit=Quick%0D%3923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R3 rs12804775 0.0459265 0 0 1 0 0 intronic intronic intronic PPP6R3 PPP6R3 ENSG00000110075 Na Na Na Na Na Na Het;G>A 92;5|4 Het;G>A 109;3|4 Hom;G>A 205;0|6 N N - 11 68452985 68452985 G A snp intronic GAL Gal ENSG00000069482 galanin and GMAP prepropeptide chr11:68451247-68458643 This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system. [provided by RefSeq, Jul 2015] alcoholism; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; alcohol consumption; bronchodilator response; several psychiatric disorders; Alzheimer Disease|Alzheimer's Disease; Cardiovascular Diseases|Hyperlipidemias; panic disorder; anxiety disorder; alcoholism; Hypercholesterolemia|LDLC levels; diabetes, type 1; Heroin Dependence; Bulimia; obesity Homozygous inactivation of this gene leads to alterations in neuroendocrine homeostasis, prolactin release, lactotroph number, mammary gland maturation, lactation, susceptibility to neuronal excitotoxicity and induced seizures, sensory neuron developmentand regeneration, and long term potentiation. G alpha (i) signalling events GO:0006954;inflammatory response;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007631;feeding behavior;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010737;protein kinase A signaling;IDA|GO:0019933;cAMP-mediated signaling;IDA|GO:0030073;insulin secretion;NAS|GO:0031943;regulation of glucocorticoid metabolic process;IEA|GO:0032868;response to insulin;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042493;response to drug;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050672;negative regulation of lymphocyte proliferation;IEA|GO:0051464;positive regulation of cortisol secretion;IDA|GO:0051795;positive regulation of timing of catagen;IDA|GO:1902608;positive regulation of large conductance calcium-activated potassium channel activity;IDA|GO:1902891;negative regulation of root hair elongation;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0030141;secretory granule;IEA|GO:0043025;neuronal cell body;IDA GO:0004966;galanin receptor activity;IMP|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IDA|GO:0005515;protein binding;IPI|GO:0031764;type 1 galanin receptor binding;IDA|GO:0031765;type 2 galanin receptor binding;IDA|GO:0031766;type 3 galanin receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GAL https://www.uniprot.org/uniprot/P22466 https://hpo.jax.org/app/browse/search?q=GAL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137035 http://www.informatics.jax.org/searchtool/Search.do?query=GAL&submit=Quick%0D%1319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAL rs694066 0.136182 0 0 1 0 0 intronic intronic intronic GAL GAL ENSG00000069482 Na Na Na Na Na Na Het;G>A 908;29|37 Het;G>A 650;26|30 Hom;G>A 1731;2|66 N N - 11 68831166 68831166 C G snp intronic TPCN2 Tpcn2 ENSG00000162341 two pore segment channel 2 chr11:68816365-68858072 This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009] Melanosis; Blond vs brown hair color; Prostatic Neoplasms; Cholesterol; Hair Color Mice homozygous for a gene trapped allele exhibit altered beta cell calcium ion physiology. Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007040;lysosome organization;IGI|GO:0010506;regulation of autophagy;IGI|GO:0019722;calcium-mediated signaling;IGI|GO:0033280;response to vitamin D;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0072345;NAADP-sensitive calcium-release channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TPCN2 https://www.ncbi.nlm.nih.gov/omim/?term=612163 http://www.informatics.jax.org/searchtool/Search.do?query=TPCN2&submit=Quick%0D%10676ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPCN2 rs11228471 0.420527 0 0 1 0 0 intronic intronic intronic TPCN2 TPCN2 ENSG00000162341 Na Na Na Na Na Na Het;C>G 110;7|4 Het;C>G 42;3|2 Hom;C>G 58;0|2 N N - 11 69306595 69306595 T G snp ncRNA_intronic KC136298 rs506516 0.523962 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic LINC01488 KC136298,KC136299,KC136301,KC136302,KC136303,KC136304,KC136307,KC136308 ENSG00000255774(dist=11887),ENSG00000110092(dist=149260) Na Na Na Na Na Na Het;T>G 1370;72|56 Het;T>G 1344;63|61 Hom;T>G 2611;2|94 N N - 11 69589556 69589556 G A snp synonymous SNV C297T L99L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FGF4 Fgf4 ENSG00000075388 fibroblast growth factor 4 chr11:69587797-69590171 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Diabetes Mellitus, Type 1; Leukemia, Lymphocytic, Chronic, B-Cell; Cleft Lip|Cleft Palate; colorectal cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth Embryos homozygous for a knock-out allele undergo implantation but degenerate shortly thereafter. In vitro, cultured embryos show severely impaired proliferation of the inner cell mass. Signaling by FGFR3 point mutants in cancer GO:0000165;MAPK cascade;TAS|GO:0001502;cartilage condensation;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IGI|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0010463;mesenchymal cell proliferation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0051781;positive regulation of cell division;IEA|GO:0060363;cranial suture morphogenesis;IEA|GO:0060561;apoptotic process involved in morphogenesis;IEA|GO:0060591;chondroblast differentiation;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:2000544;regulation of endothelial cell chemotaxis to fibroblast growth factor;IDA GO:0005576;extracellular region;TAS|GO:0005622;intracellular;IEA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0008083;growth factor activity;TAS|GO:0008201;heparin binding;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FGF4 https://www.uniprot.org/uniprot/P08620 https://www.ncbi.nlm.nih.gov/omim/?term=164980 http://www.informatics.jax.org/searchtool/Search.do?query=FGF4&submit=Quick%0D%1542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF4 rs11600280 0.0289537 0.0391 0.1304 1 0 0 exonic exonic exonic FGF4 FGF4 ENSG00000075388 synonymous SNV synonymous SNV unknown FGF4:NM_002007:exon1:c.C297T:p.L99L, FGF4:uc010rqj.1:exon1:c.C297T:p.L99L,FGF4:uc001opg.1:exon1:c.C297T:p.L99L, UNKNOWN Het;G>A 640;41|33 Het;G>A 806;46|40 Hom;G>A 1747;0|63 N N - 11 72384890 72384890 C G snp intronic PDE2A Pde2a ENSG00000186642 phosphodiesterase 2A chr11:72287185-72385635 Arthritis, Rheumatoid; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age. G alpha (s) signalling events GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006198;cAMP catabolic process;IDA|GO:0006626;protein targeting to mitochondrion;ISS|GO:0007165;signal transduction;IEA|GO:0008152;metabolic process;IDA|GO:0019933;cAMP-mediated signaling;IMP|GO:0019934;cGMP-mediated signaling;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0033159;negative regulation of protein import into nucleus, translocation;IDA|GO:0035690;cellular response to drug;IMP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0043116;negative regulation of vascular permeability;IMP|GO:0043117;positive regulation of vascular permeability;IMP|GO:0046069;cGMP catabolic process;IDA|GO:0050729;positive regulation of inflammatory response;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071260;cellular response to mechanical stimulus;ISS|GO:0071321;cellular response to cGMP;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004112;cyclic-nucleotide phosphodiesterase activity;IDA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004118;cGMP-stimulated cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IMP|GO:0030553;cGMP binding;IDA|GO:0030911;TPR domain binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PDE2A https://www.ncbi.nlm.nih.gov/omim/?term=602658 http://www.informatics.jax.org/searchtool/Search.do?query=PDE2A&submit=Quick%0D%15685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE2A rs7126790 0.429113 0 0 1 0 0 intronic intronic intronic PDE2A PDE2A ENSG00000186642 Na Na Na Na Na Na Het;C>G 76;3|3 Ref Hom;C>G 31;0|3 N N - 11 73366697 73366697 G A snp intronic PLEKHB1 Plekhb1 ENSG00000021300 pleckstrin homology domain containing B1 chr11:73357223-73373864 Type 2 Diabetes| edema | rosiglitazone; Macular Degeneration Homozygous null mice are viable with no abnormalities detected in growth, behavior including balance, inner ear histology, or serum and urine electrolyte concentrations. GO:0007275;multicellular organism development;IEA|GO:0007602;phototransduction;NAS|GO:0045595;regulation of cell differentiation;IBA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB1 https://www.uniprot.org/uniprot/Q9UF11 https://www.ncbi.nlm.nih.gov/omim/?term=607651 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB1&submit=Quick%0D%661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB1 rs2008734 0.430312 0 0 1 0 0 intronic intronic intronic PLEKHB1 PLEKHB1 ENSG00000021300 Na Na Na Na Na Na Het;G>A 220;3|7 Het;G>A 172;3|6 Hom;G>A 242;0|7 N N - 11 73372089 73372089 T G snp intronic PLEKHB1 Plekhb1 ENSG00000021300 pleckstrin homology domain containing B1 chr11:73357223-73373864 Type 2 Diabetes| edema | rosiglitazone; Macular Degeneration Homozygous null mice are viable with no abnormalities detected in growth, behavior including balance, inner ear histology, or serum and urine electrolyte concentrations. GO:0007275;multicellular organism development;IEA|GO:0007602;phototransduction;NAS|GO:0045595;regulation of cell differentiation;IBA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB1 https://www.uniprot.org/uniprot/Q9UF11 https://www.ncbi.nlm.nih.gov/omim/?term=607651 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB1&submit=Quick%0D%661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB1 rs10793065 0.461062 0 0 1 0 0 intronic intronic intronic PLEKHB1 PLEKHB1 ENSG00000021300 Na Na Na Na Na Na Het;T>G 270;6|9 Het;T>G 273;3|9 Hom;T>G 144;0|5 N N - 11 73390772 73390774 GAA G indel intronic RAB6A Rab6a ENSG00000175582 RAB6A, member RAS oncogene family chr11:73386683-73472182 This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a knock-out allele die aroound E6 with disorganized epiblast. RAB GEFs exchange GTP for GDP on RABs GO:0000042;protein targeting to Golgi;IDA|GO:0006810;transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0018125;peptidyl-cysteine methylation;IDA|GO:0019882;antigen processing and presentation;IMP|GO:0034067;protein localization to Golgi apparatus;IDA|GO:0034498;early endosome to Golgi transport;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0061024;membrane organization;TAS|GO:0072385;minus-end-directed organelle transport along microtubule;TAS GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070381;endosome to plasma membrane transport vesicle;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031489;myosin V binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB6A https://www.ncbi.nlm.nih.gov/omim/?term=179513 http://www.informatics.jax.org/searchtool/Search.do?query=RAB6A&submit=Quick%0D%13727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB6A rs553826340 0.454872 0.4738 0.5287 1 0 0 intronic intronic intronic RAB6A RAB6A ENSG00000175582 Na Na Na Na Na Na Het;-AA 990;43|28 Het;-AA 819;42|24 Hom;-AA 3262;4|80 N N - 11 73876359 73876359 C T snp intronic C2CD3 C2cd3 ENSG00000168014 C2 calcium dependent domain containing 3 chr11:73723763-73882255 This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014] Hip Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect. Anchoring of the basal body to the plasma membrane GO:0001701;in utero embryonic development;IEA|GO:0001947;heart looping;IEA|GO:0007389;pattern specification process;IEA|GO:0007420;brain development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0016485;protein processing;IEA|GO:0021915;neural tube development;IEA|GO:0021997;neural plate axis specification;IEA|GO:0030030;cell projection organization;IEA|GO:0030162;regulation of proteolysis;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0060271;cilium assembly;IEA|GO:0061511;centriole elongation;IDA|GO:0071539;protein localization to centrosome;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0034451;centriolar satellite;IDA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C2CD3 https://hpo.jax.org/app/browse/search?q=C2CD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615944 http://www.informatics.jax.org/searchtool/Search.do?query=C2CD3&submit=Quick%0D%12175ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2CD3 rs1405653 0.27476 0 0 1 0 0 intronic intronic intronic C2CD3 C2CD3 ENSG00000168014 Na Na Na Na Na Na Het;C>T 260;2|7 Ref Hom;C>T 249;0|10 N N - 11 74408106 74408106 G A snp intronic CHRDL2 Chrdl2 ENSG00000054938 chordin like 2 chr11:74407474-74442430 This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015] Bone Mineral Density GO:0001503;ossification;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0051216;cartilage development;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHRDL2 https://www.uniprot.org/uniprot/Q6WN34 https://www.ncbi.nlm.nih.gov/omim/?term=613127 http://www.informatics.jax.org/searchtool/Search.do?query=CHRDL2&submit=Quick%0D%984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRDL2 rs7131683 0.864018 0 0 1 0 0 intronic intronic intronic CHRDL2 CHRDL2 ENSG00000054938 Na Na Na Na Na Na Het;G>A 62;3|3 Ref Hom;G>A 119;0|4 N N - 11 7618953 7618953 G A snp intronic PPFIBP2 Ppfibp2 ENSG00000166387 PPFIA binding protein 2 chr11:7534529-7678358 This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Erythrocyte Count; breast cancer; Hemoglobins; Tobacco Use Disorder Receptor-type tyrosine-protein phosphatases GO:0005615;extracellular space;IDA|GO:0005622;intracellular;TAS|GO:0005829;cytosol;TAS GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/PPFIBP2 https://www.ncbi.nlm.nih.gov/omim/?term=603142 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIBP2&submit=Quick%0D%11775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIBP2 rs4758203 0.349042 0.2371 0.3024 1 0 0 intronic intronic intronic PPFIBP2 PPFIBP2 ENSG00000166387 Na Na Na Na Na Na Het;G>A 386;18|15 Het;G>A 539;20|26 Hom;G>A 1419;0|54 N N - 11 7693853 7693853 G GCACACA indel intronic CYB5R2 Cyb5r2 ENSG00000166394 cytochrome b5 reductase 2 chr11:7686331-7698453 The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Acquired Immunodeficiency Syndrome|Disease Progression; Waist Circumference Mice homozygous for a targeted allele exhibit normal cATR-induced effects on mitochondria membrane potential during respiratory arrest by rotenone or anoxia. Erythrocytes take up carbon dioxide and release oxygen GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0008202;steroid metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0016126;sterol biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IDA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004128;cytochrome-b5 reductase activity, acting on NAD(P)H;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYB5R2 https://www.ncbi.nlm.nih.gov/omim/?term=608342 http://www.informatics.jax.org/searchtool/Search.do?query=CYB5R2&submit=Quick%0D%11777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYB5R2 rs144823333 0.330072 0 0 1 0 0 intronic intronic intronic CYB5R2 CYB5R2 ENSG00000166394 Na Na Na Na Na Na Het;+CACACA 500;1|12 Ref Hom;+CACACA 388;0|10 N N - 11 7847208 7847208 T C snp synonymous SNV A312G V104V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR5P3 Olfr508 ENSG00000280808 olfactory receptor family 5 subfamily P member 3 chr11:7846584-7847519 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR5P3 http://www.informatics.jax.org/searchtool/Search.do?query=OR5P3&submit=Quick%0D%22244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5P3 rs1482791 0.44349 0.4746 0.5800 1 0 0 exonic exonic exonic OR5P3 OR5P3 ENSG00000182334 synonymous SNV synonymous SNV unknown OR5P3:NM_153445:exon1:c.A312G:p.V104V, OR5P3:uc010rbg.2:exon1:c.A312G:p.V104V, UNKNOWN Het;T>C 2933;119|117 Het;T>C 1588;90|67 Hom;T>C 5497;2|184 N N - 11 7847472 7847472 C T snp synonymous SNV G48A G16G aliphatic,neutral aliphatic,neutral OR5P3 Olfr508 ENSG00000280808 olfactory receptor family 5 subfamily P member 3 chr11:7846584-7847519 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR5P3 http://www.informatics.jax.org/searchtool/Search.do?query=OR5P3&submit=Quick%0D%22244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5P3 rs1482793 0.44389 0.4650 0.5884 1 0 0 exonic exonic exonic OR5P3 OR5P3 ENSG00000182334 synonymous SNV synonymous SNV unknown OR5P3:NM_153445:exon1:c.G48A:p.G16G, OR5P3:uc010rbg.2:exon1:c.G48A:p.G16G, UNKNOWN Het;C>T 1081;53|48 Het;C>T 1292;46|56 Hom;C>T 4216;0|96 N N - 11 7872280 7872283 TTTG T indel downstream LOC283299 rs143900691 0.678914 0 0 1 0 0 downstream downstream ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;-TTG 314;36|11 Het;-TTG 197;34|8 Hom;-TTG 1358;0|31 N N - 11 7872292 7872292 C T snp downstream LOC283299 rs2885152 0.679513 0 0 1 0 0 downstream downstream ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>T 335;33|11 Het;C>T 224;35|9 Hom;C>T 1392;0|32 N N - 11 7873366 7873366 T C snp ncRNA_exonic LOC283299 rs10839886 0.366613 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC283299 LOC283299 ENSG00000254951 Na Na Na Na Na Na Het;T>C 2038;98|91 Het;T>C 1690;98|77 Hom;T>C 5283;0|183 N N - 11 7873427 7873427 G A snp ncRNA_exonic LOC283299 rs10839887 0.36262 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC283299 LOC283299 ENSG00000254951 Na Na Na Na Na Na Het;G>A 2135;107|87 Het;G>A 2287;117|105 Hom;G>A 5528;0|194 N N - 11 7873859 7873859 C T snp ncRNA_exonic LOC283299 rs10839888 0.364018 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC283299 LOC283299 ENSG00000254951 Na Na Na Na Na Na Het;C>T 903;49|41 Het;C>T 973;28|40 Hom;C>T 2594;0|93 N N - 11 7873953 7873953 G A snp ncRNA_intronic LOC283299 rs17312871 0.364018 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;G>A 215;8|8 Het;G>A 92;6|6 Hom;G>A 286;0|8 N N - 11 7876567 7876567 C G snp ncRNA_intronic LOC283299 rs11041605 0.374002 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>G 855;33|25 Het;C>G 1354;19|36 Hom;C>G 2231;0|55 N N - 11 7876573 7876573 G A snp ncRNA_intronic LOC283299 rs11041606 0.36242 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;G>A 770;30|20 Het;G>A 1280;19|32 Hom;G>A 1906;0|41 N N - 11 7876580 7876580 C T snp ncRNA_intronic LOC283299 rs10839889 0.509185 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>T 617;22|17 Het;C>T 848;15|22 Hom;C>T 1637;0|36 N N - 11 7901086 7901086 C A snp ncRNA_intronic LOC283299 rs56003884 0.783946 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>A 302;16|9 Het;C>A 650;25|18 Hom;C>A 1007;0|23 N N - 11 7901090 7901090 T TGAAA indel ncRNA_intronic LOC283299 rs111633393 0.694289 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;+GAAA 290;17|9 Het;+GAAA 641;26|18 Hom;+GAAA 1132;0|25 N N - 11 7901121 7901121 C T snp ncRNA_intronic LOC283299 rs10839901 0.784145 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>T 408;26|18 Het;C>T 576;36|22 Hom;C>T 2021;0|68 N N - 11 7901414 7901414 A T snp ncRNA_intronic LOC283299 rs2361066 0.784744 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;A>T 243;4|11 Het;A>T 174;13|9 Hom;A>T 833;0|30 N N - 11 7902564 7902564 T G snp ncRNA_exonic AC044810.2 rs10769844 0.784145 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LOC283299 LOC283299 ENSG00000254951 Na Na Na Na Na Na Het;T>G 139;7|6 Het;T>G 150;8|6 Hom;T>G 852;0|27 N N - 11 7902645 7902645 C A snp ncRNA_exonic LOC283299 rs10839902 0.783147 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>A 658;35|30 Het;C>A 508;22|27 Hom;C>A 2366;0|92 N N - 11 7904380 7904380 C T snp ncRNA_intronic LOC283299 rs7928132 0.663738 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;C>T 992;60|48 Het;C>T 997;43|47 Hom;C>T 2501;0|93 N N - 11 7904470 7904470 A G snp ncRNA_exonic LOC283299 rs7942777 0.775958 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC283299 LOC283299 ENSG00000254951,ENSG00000271758 Na Na Na Na Na Na Het;A>G 974;75|46 Het;A>G 1194;49|58 Hom;A>G 3041;0|115 N N - 11 8061100 8061100 C T snp ncRNA_exonic AC116456.1 rs10769865 0.443291 0 0 1 0 0 intronic intronic ncRNA_exonic TUB TUB ENSG00000254921 Na Na Na Na Na Na Het;C>T 54;7|3 Het;C>T 189;4|9 Hom;C>T 183;0|7 N N - 11 8114444 8114444 C T snp intronic TUB Tub ENSG00000166402 tubby bipartite transcription factor chr11:8040791-8127659 This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; adiposity; obesity; Obesity; Autism; body mass obesity; prostate cancer Homozygous mutants exhibit a late-developing obesity with hyperinsulinemia, retinal degeneration, and hearing loss associated with death of both outer and inner hair cells. GO:0006909;phagocytosis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0007605;sensory perception of sound;IEA|GO:0009725;response to hormone;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050766;positive regulation of phagocytosis;IDA|GO:0050896;response to stimulus;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0097500;receptor localization to non-motile cilium;IEA|GO:1903441;protein localization to ciliary membrane;IEA|GO:1903546;protein localization to photoreceptor outer segment;IEA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IBA|GO:0016020;membrane;IEA GO:0032403;protein complex binding;IDA|GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUB https://hpo.jax.org/app/browse/search?q=TUB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601197 http://www.informatics.jax.org/searchtool/Search.do?query=TUB&submit=Quick%0D%11781ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUB rs10769868 0.441294 0 0 1 0 0 intronic intronic intronic TUB TUB ENSG00000166402 Na Na Na Na Na Na Het;C>T 280;5|9 Het;C>T 99;15|5 Hom;C>T 632;0|18 N N - 11 8174966 8174966 G A snp unknown RIC3 Ric3 ENSG00000166405 RIC3 acetylcholine receptor chaperone chr11:8127597-8190602 The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Type 2 Diabetes| edema | rosiglitazone; Neuroblastoma GO:0006457;protein folding;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0034394;protein localization to cell surface;IBA|GO:0043623;cellular protein complex assembly;IEA GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0033130;acetylcholine receptor binding;IBA|GO:0044183;protein binding involved in protein folding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RIC3 https://www.ncbi.nlm.nih.gov/omim/?term=610509 http://www.informatics.jax.org/searchtool/Search.do?query=RIC3&submit=Quick%0D%11782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC3 rs10743052 0.528954 0 0.4755 1 0 0 intronic UTR5 exonic RIC3 RIC3(uc010rbl.1:c.-13252C>T) ENSG00000166405 Na Na unknown Na Na UNKNOWN Het;G>A 608;40|30 Het;G>A 470;26|24 Hom;G>A 2194;0|82 N N - 11 8255408 8255408 C A snp intronic LMO1 Lmo1 ENSG00000166407 LIM domain only 1 chr11:8245851-8290263 This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] Tobacco Use Disorder; Blood Pressure; Neuroblastoma; Arteries; Diabetes Mellitus Homozygous mutant mice show no overt phenotype. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046013;regulation of T cell homeostatic proliferation;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMO1 https://hpo.jax.org/app/browse/search?q=LMO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=186921 http://www.informatics.jax.org/searchtool/Search.do?query=LMO1&submit=Quick%0D%11783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMO1 rs2168101 0.202276 0 0 1 0 0 intronic intronic intronic LMO1 LMO1 ENSG00000166407 Na Na Na Na Na Na Het;C>A 210;17|12 Het;C>A 303;24|18 Hom;C>A 1087;0|44 N N - 11 8339894 8339894 T C snp intergenic LMO1 Lmo1 ENSG00000166407 LIM domain only 1 chr11:8245851-8290263 This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] Tobacco Use Disorder; Blood Pressure; Neuroblastoma; Arteries; Diabetes Mellitus Homozygous mutant mice show no overt phenotype. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046013;regulation of T cell homeostatic proliferation;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMO1 https://hpo.jax.org/app/browse/search?q=LMO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=186921 http://www.informatics.jax.org/searchtool/Search.do?query=LMO1&submit=Quick%0D%11783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMO1 rs10840020 0.554513 0 0 1 0 0 intergenic intergenic intergenic LMO1(dist=49712),STK33(dist=73519) LMO1(dist=49712),STK33(dist=73524) ENSG00000166407(dist=49631),ENSG00000130413(dist=73524) Na Na Na Na Na Na Het;T>C 72;5|3 Het;T>C 151;5|5 Hom;T>C 180;0|6 N N - 11 8340183 8340183 T C snp intergenic LMO1 Lmo1 ENSG00000166407 LIM domain only 1 chr11:8245851-8290263 This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] Tobacco Use Disorder; Blood Pressure; Neuroblastoma; Arteries; Diabetes Mellitus Homozygous mutant mice show no overt phenotype. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046013;regulation of T cell homeostatic proliferation;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMO1 https://hpo.jax.org/app/browse/search?q=LMO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=186921 http://www.informatics.jax.org/searchtool/Search.do?query=LMO1&submit=Quick%0D%11783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMO1 rs10769896 0.504593 0 0 1 0 0 intergenic intergenic intergenic LMO1(dist=50001),STK33(dist=73230) LMO1(dist=50001),STK33(dist=73235) ENSG00000166407(dist=49920),ENSG00000130413(dist=73235) Na Na Na Na Na Na Het;T>C 94;3|4 Het;T>C 118;5|5 Hom;T>C 263;0|8 N N - 11 8353378 8353378 G GGGC indel intergenic LMO1 Lmo1 ENSG00000166407 LIM domain only 1 chr11:8245851-8290263 This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] Tobacco Use Disorder; Blood Pressure; Neuroblastoma; Arteries; Diabetes Mellitus Homozygous mutant mice show no overt phenotype. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046013;regulation of T cell homeostatic proliferation;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMO1 https://hpo.jax.org/app/browse/search?q=LMO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=186921 http://www.informatics.jax.org/searchtool/Search.do?query=LMO1&submit=Quick%0D%11783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMO1 rs34925868 0 0 0 1 0 0 intergenic intergenic intergenic LMO1(dist=63196),STK33(dist=60035) LMO1(dist=63196),STK33(dist=60040) ENSG00000166407(dist=63115),ENSG00000130413(dist=60040) Na Na Na Na Na Na Het;+GGC 86;1|3 Ref Hom;+GGC 233;0|6 N N - 11 855318 855318 T C snp intronic TSPAN4 Tspan4 ENSG00000214063 tetraspanin 4 chr11:842808-867116 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] GO:0006461;protein complex assembly;IDA|GO:0007166;cell surface receptor signaling pathway;IBA GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IDA GO:0003823;antigen binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN4 https://www.ncbi.nlm.nih.gov/omim/?term=602644 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN4&submit=Quick%0D%18208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN4 rs28439945 0.665935 0 0 1 0 0 intronic intronic intronic TSPAN4 TSPAN4 ENSG00000214063 Na Na Na Na Na Na Het;T>C 48;2|3 Ref Hom;T>C 71;0|4 N N - 11 85780073 85780073 G T snp UTR5 -251C>A PICALM Picalm ENSG00000073921 phosphatidylinositol binding clathrin assembly protein chr11:85668727-85780924 This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Alzheimer's disease; Alzheimer Disease; Alzheimer's disease Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity. Clathrin-mediated endocytosis GO:0006461;protein complex assembly;TAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0007409;axonogenesis;IEA|GO:0008283;cell proliferation;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0016188;synaptic vesicle maturation;ISS|GO:0016192;vesicle-mediated transport;TAS|GO:0016197;endosomal transport;IMP|GO:0030097;hemopoiesis;IEA|GO:0030100;regulation of endocytosis;IMP|GO:0031623;receptor internalization;IMP|GO:0032880;regulation of protein localization;IDA|GO:0035459;cargo loading into vesicle;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048261;negative regulation of receptor-mediated endocytosis;IDA|GO:0048268;clathrin coat assembly;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0055072;iron ion homeostasis;IMP|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;IMP|GO:0098711;iron ion import across plasma membrane;IMP|GO:1901216;positive regulation of neuron death;IMP|GO:1902004;positive regulation of beta-amyloid formation;IMP|GO:1902959;regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process;IMP|GO:1902961;positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process;ISS|GO:1902963;negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0016020;membrane;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030132;clathrin coat of coated pit;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;ISS|GO:0042734;presynaptic membrane;ISS|GO:0043025;neuronal cell body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045211;postsynaptic membrane;ISS|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0097418;neurofibrillary tangle;IMP GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0005545;1-phosphatidylinositol binding;IEA|GO:0030276;clathrin binding;IEA|GO:0032050;clathrin heavy chain binding;IDA|GO:0035615;clathrin adaptor activity;IMP|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PICALM https://www.uniprot.org/uniprot/Q13492 https://hpo.jax.org/app/browse/search?q=PICALM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603025 http://www.informatics.jax.org/searchtool/Search.do?query=PICALM&submit=Quick%0D%1487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PICALM rs3016326 0.986422 0 0 1 0 0 UTR5 UTR5 UTR5 PICALM(NM_001206946:c.-251C>A,NM_007166:c.-251C>A,NM_001008660:c.-251C>A) PICALM(uc001pbl.3:c.-251C>A,uc001pbm.3:c.-251C>A,uc001pbn.3:c.-251C>A) ENSG00000073921(ENST00000532317:c.-251C>A,ENST00000526033:c.-251C>A,ENST00000528256:c.-353C>A) Na Na Na Na Na Na Het;G>T 110;2|5 Ref Hom;G>T 92;0|3 N N - 11 8751640 8751640 G C snp nonsynonymous SNV C1197G D399E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ST5 St5 ENSG00000166444 suppression of tumorigenicity 5 chr11:8714898-8932498 This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Brain; Central Nervous System; Blood Flow Velocity; Mental Competency RAB GEFs exchange GTP for GDP on RABs GO:0043547;positive regulation of GTPase activity;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ST5 https://www.ncbi.nlm.nih.gov/omim/?term=140750 http://www.informatics.jax.org/searchtool/Search.do?query=ST5&submit=Quick%0D%11793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ST5 rs3812762 0.265375 0.2586 0.3119 0.38 5 13 exonic exonic exonic ST5 ST5 ENSG00000166444 nonsynonymous SNV nonsynonymous SNV unknown ST5:NM_005418:exon6:c.C1197G:p.D399E,ST5:NM_213618:exon3:c.C1197G:p.D399E, ST5:uc001mgv.3:exon6:c.C1197G:p.D399E,ST5:uc001mgw.1:exon7:c.C1197G:p.D399E,ST5:uc001mgt.3:exon3:c.C1197G:p.D399E, UNKNOWN Het;G>C 2350;106|102 Het;G>C 2032;95|86 Hom;G>C 4881;5|180 N N - 11 8806709 8806709 G T snp ncRNA_exonic LOC102724784 rs2292045 0.254792 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC102724784 ST5 ENSG00000255159 Na Na Na Na Na Na Het;G>T 931;36|41 Het;G>T 825;29|36 Hom;G>T 1747;0|62 N N - 11 8986840 8986840 C CAG indel ncRNA_intronic TMEM9B-AS1 rs10689687 0.575879 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic TMEM9B-AS1 TMEM9B-AS1 ENSG00000254860 Na Na Na Na Na Na Het;+AG 156;2|5 Het;+AG 167;2|5 Hom;+AG 89;0|3 N N - 11 9115771 9115771 A G snp upstream KRT8P41 rs4910441 0.0393371 0 0 1 0 0 upstream upstream upstream KRT8P41 KRT8P41 ENSG00000213538 Na Na Na Na Na Na Het;A>G 81;2|3 Ref Hom;A>G 122;0|4 N N - 11 9116224 9116224 G T snp ncRNA_exonic KRT8P41 rs2133214 0.407947 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic KRT8P41 KRT8P41(uc010rbv.2:c.-418G>T) ENSG00000213538 Na Na Na Na Na Na Het;G>T 76;4|4 Het;G>T 82;11|4 Hom;G>T 147;0|6 N N - 11 9161521 9161521 C T snp intronic DENND5A Dennd5a ENSG00000184014 DENN domain containing 5A chr11:9160372-9286937 Epileptic encephalopathy RAB GEFs exchange GTP for GDP on RABs GO:0010977;negative regulation of neuron projection development;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0061024;membrane organization;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0030904;retromer complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005262;calcium channel activity;IBA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DENND5A https://hpo.jax.org/app/browse/search?q=DENND5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617278 http://www.informatics.jax.org/searchtool/Search.do?query=DENND5A&submit=Quick%0D%15122ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND5A rs7396705 0.413139 0 0 1 0 0 intronic intronic intronic DENND5A DENND5A ENSG00000184014 Na Na Na Na Na Na Het;C>T 138;7|6 Ref Hom;C>T 144;0|6 N N - 11 9164437 9164437 G A snp intronic DENND5A Dennd5a ENSG00000184014 DENN domain containing 5A chr11:9160372-9286937 Epileptic encephalopathy RAB GEFs exchange GTP for GDP on RABs GO:0010977;negative regulation of neuron projection development;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0061024;membrane organization;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0030904;retromer complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005262;calcium channel activity;IBA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DENND5A https://hpo.jax.org/app/browse/search?q=DENND5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617278 http://www.informatics.jax.org/searchtool/Search.do?query=DENND5A&submit=Quick%0D%15122ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND5A rs74643810 0.0561102 0.0881 0.0779 1 0 0 intronic intronic intronic DENND5A DENND5A ENSG00000184014 Na Na Na Na Na Na Het;G>A 1129;58|55 Het;G>A 759;59|40 Hom;G>A 2410;0|92 N N - 11 9182604 9182604 G A snp intronic DENND5A Dennd5a ENSG00000184014 DENN domain containing 5A chr11:9160372-9286937 Epileptic encephalopathy RAB GEFs exchange GTP for GDP on RABs GO:0010977;negative regulation of neuron projection development;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0061024;membrane organization;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0030904;retromer complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005262;calcium channel activity;IBA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DENND5A https://hpo.jax.org/app/browse/search?q=DENND5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617278 http://www.informatics.jax.org/searchtool/Search.do?query=DENND5A&submit=Quick%0D%15122ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND5A rs2316088 0.213658 0 0 1 0 0 intronic intronic intronic DENND5A DENND5A ENSG00000184014 Na Na Na Na Na Na Het;G>A 137;6|5 Ref Hom;G>A 242;0|7 N N - 11 9199650 9199650 C T snp intronic DENND5A Dennd5a ENSG00000184014 DENN domain containing 5A chr11:9160372-9286937 Epileptic encephalopathy RAB GEFs exchange GTP for GDP on RABs GO:0010977;negative regulation of neuron projection development;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0061024;membrane organization;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0030904;retromer complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005262;calcium channel activity;IBA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DENND5A https://hpo.jax.org/app/browse/search?q=DENND5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617278 http://www.informatics.jax.org/searchtool/Search.do?query=DENND5A&submit=Quick%0D%15122ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND5A rs60693427 0.252196 0.3450 0.2675 1 0 0 intronic intronic intronic DENND5A DENND5A ENSG00000184014 Na Na Na Na Na Na Het;C>T 623;15|20 Het;C>T 422;9|16 Hom;C>T 798;0|25 N N - 11 93436254 93436254 C T snp intronic CEP295 Cep295 rs4376865 0.363419 0 0 1 0 0 intronic intronic intronic CEP295 KIAA1731 ENSG00000166004 Na Na Na Na Na Na Het;C>T 64;2|3 Ref Hom;C>T 98;0|4 N N - 11 94730403 94730403 C CA indel UTR5 -134C>CA KDM4D Kdm4d ENSG00000186280 lysine demethylase 4D chr11:94706845-94732682 Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a knock-out allele exhibit accumulation of histone 3 methylation in spermatids, a transient increase in testes size, wider tubules, occasional male germ cell apoptosis, and decreased body weight. However, fertility is normal. HDMs demethylate histones GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0001932;regulation of protein phosphorylation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0035563;positive regulation of chromatin binding;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0071479;cellular response to ionizing radiation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2001034;positive regulation of double-strand break repair via nonhomologous end joining;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA|GO:0035861;site of double-strand break;IDA|GO:0072562;blood microparticle;IDA GO:0003684;damaged DNA binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0032452;histone demethylase activity;TAS|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4D https://www.ncbi.nlm.nih.gov/omim/?term=609766 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4D&submit=Quick%0D%15606ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4D rs11371511 0.849241 0 0 1 0 0 UTR5 UTR5 UTR5 KDM4D(NM_018039:c.-134C>CA) KDM4D(uc001pfe.3:c.-134C>CA) ENSG00000186280(ENST00000335080:c.-134C>CA,ENST00000536741:c.-134C>CA) Na Na Na Na Na Na Het;+A 52;1|4 Ref Hom;+A 78;0|5 N N - 11 95568757 95568757 C A snp intronic MTMR2 Mtmr2 ENSG00000087053 myotubularin related protein 2 chr11:95566046-95658479 This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Chronic renal failure|Kidney Failure, Chronic; recessive Charcot-Marie-Tooth disease; Bone Density; Charcot-Marie-Tooth disease Homozygous null mutants develop progressive neuropathy characterized by myelin outfolding and recurrent loops and depletion of spermatids and spermatocytes from the seminiferous epithelium. Synthesis of PIPs at the late endosome membrane GO:0002091;negative regulation of receptor internalization;ISS|GO:0006470;protein dephosphorylation;NAS|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0031642;negative regulation of myelination;IEA|GO:0032288;myelin assembly;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0045806;negative regulation of endocytosis;ISS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046855;inositol phosphate dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IDA|GO:0048666;neuron development;IEA|GO:0051262;protein tetramerization;IEA|GO:0090394;negative regulation of excitatory postsynaptic potential;ISS|GO:0097062;dendritic spine maintenance;ISS|GO:2000643;positive regulation of early endosome to late endosome transport;ISS|GO:2000645;negative regulation of receptor catabolic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;ISS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0031901;early endosome membrane;IEA|GO:0043197;dendritic spine;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097060;synaptic membrane;ISS GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;NAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR2 https://www.uniprot.org/uniprot/Q13614 https://hpo.jax.org/app/browse/search?q=MTMR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603557 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR2&submit=Quick%0D%1944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR2 rs473852 0.27496 0 0 1 0 0 intronic intronic intronic MTMR2 MTMR2 ENSG00000087053 Na Na Na Na Na Na Het;C>A 115;2|4 Het;C>A 124;1|4 Hom;C>A 381;0|11 N N - 11 9595732 9595732 C G snp synonymous SNV C252G G84G aliphatic,neutral aliphatic,neutral WEE1 Wee1 ENSG00000166483 WEE1 G2 checkpoint kinase chr11:9595228-9615004 This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008] breast cancer; Type 2 Diabetes| edema | rosiglitazone; breast cancer Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. Mice homozygous for a knock-out allele exhibit lethality between E3.5 and E7.5 with reduced proliferation, increased apoptosis and abnormal G2/M checkpoint function. Factors involved in megakaryocyte development and platelet production GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WEE1 https://www.ncbi.nlm.nih.gov/omim/?term=193525 http://www.informatics.jax.org/searchtool/Search.do?query=WEE1&submit=Quick%0D%11807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WEE1 rs11042428 0.49401 0 0.6852 1 0 0 exonic exonic exonic WEE1 WEE1 ENSG00000166483 synonymous SNV synonymous SNV unknown WEE1:NM_003390:exon1:c.C252G:p.G84G, WEE1:uc001mhs.3:exon1:c.C252G:p.G84G, UNKNOWN Het;C>G 373;10|15 Het;C>G 223;8|7 Hom;C>G 376;1|14 N N - 11 9595768 9595768 C T snp synonymous SNV C288T P96P hydrophobic,neutral hydrophobic,neutral WEE1 Wee1 ENSG00000166483 WEE1 G2 checkpoint kinase chr11:9595228-9615004 This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008] breast cancer; Type 2 Diabetes| edema | rosiglitazone; breast cancer Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. Mice homozygous for a knock-out allele exhibit lethality between E3.5 and E7.5 with reduced proliferation, increased apoptosis and abnormal G2/M checkpoint function. Factors involved in megakaryocyte development and platelet production GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WEE1 https://www.ncbi.nlm.nih.gov/omim/?term=193525 http://www.informatics.jax.org/searchtool/Search.do?query=WEE1&submit=Quick%0D%11807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WEE1 rs117347074 0.057508 0 0.3249 1 0 0 exonic exonic exonic WEE1 WEE1 ENSG00000166483 synonymous SNV synonymous SNV unknown WEE1:NM_003390:exon1:c.C288T:p.P96P, WEE1:uc001mhs.3:exon1:c.C288T:p.P96P, UNKNOWN Het;C>T 318;24|14 Het;C>T 529;8|20 Hom;C>T 695;1|27 N N - 12 1005162 1005162 T C snp intronic WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs35956200 0.108626 0 0 1 0 0 intronic intronic intronic WNK1 WNK1 ENSG00000060237 Na Na Na Na Na Na Het;T>C 215;9|9 Het;T>C 237;2|8 Hom;T>C 345;0|10 N N - 12 100795699 100795699 A G snp intronic SLC17A8 Slc17a8 ENSG00000179520 solute carrier family 17 member 8 chr12:100750857-100815837 This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Body Height; Body Weights and Measures Mice homozygous for a null allele exhibit sensorineural hearing loss, cochlear ganglion degeneration, decreased synaptic glutamate release, and nonconvulsive seizures. Organic anion transporters GO:0003407;neural retina development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0007420;brain development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0015813;L-glutamate transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA|GO:0090102;cochlea development;IEA GO:0005737;cytoplasm;IEA|GO:0005771;multivesicular body;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA|GO:0060076;excitatory synapse;IEA|GO:0097440;apical dendrite;IEA|GO:0097441;basilar dendrite;IEA|GO:0097451;glial limiting end-foot;IEA|GO:1990030;pericellular basket;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A8 https://hpo.jax.org/app/browse/search?q=SLC17A8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607557 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A8&submit=Quick%0D%14348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A8 rs11568544 0.209665 0.3099 0 1 0 0 intronic intronic intronic SLC17A8 SLC17A8 ENSG00000179520 Na Na Na Na Na Na Het;A>G 344;14|12 Ref Hom;A>G 1070;1|38 N N - 12 100976260 100976260 T A snp intronic GAS2L3 Gas2l3 ENSG00000139354 growth arrest specific 2 like 3 chr12:100967461-101022064 Mice homozygous for a null allele display partial postnatal lethality with none surviving past 4 months, dilated cardiomyopathy, cardiac interstitial fibrosis, and premature binucleation of cardiomyocytes. GO:0000226;microtubule cytoskeleton organization;IDA|GO:0030036;actin cytoskeleton organization;IDA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0015630;microtubule cytoskeleton;IDA GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GAS2L3 https://www.uniprot.org/uniprot/Q86XJ1 https://www.ncbi.nlm.nih.gov/omim/?term=617224 http://www.informatics.jax.org/searchtool/Search.do?query=GAS2L3&submit=Quick%0D%7878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS2L3 rs35701 0.228435 0 0 1 0 0 intronic intronic intronic GAS2L3 GAS2L3 ENSG00000139354 Na Na Na Na Na Na Het;T>A 496;4|22 Het;T>A 174;13|9 Hom;T>A 561;0|23 N N - 12 101118504 101118504 T A snp intronic ANO4 Ano4 ENSG00000262139 anoctamin 4 chr12:101111304-101522419 Cholesterol, HDL; Heart Failure; Body Mass Index Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005622;intracellular;ISS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO4 https://www.uniprot.org/uniprot/Q32M45 https://www.ncbi.nlm.nih.gov/omim/?term=610111 http://www.informatics.jax.org/searchtool/Search.do?query=ANO4&submit=Quick%0D%20457ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO4 rs10778068 0.211661 0 0 1 0 0 intergenic intergenic intronic GAS2L3(dist=96438),ANO4(dist=69870) Mir_652(dist=73376),NONE(dist=NONE) ENSG00000151572 Na Na Na Na Na Na Het;T>A 686;31|30 Ref Hom;T>A 1034;0|37 N N - 12 101462039 101462039 A G snp ncRNA_intronic AC063947.2 rs613778 0.779153 0 0 1 0 0 intronic intronic ncRNA_intronic ANO4 ANO4 ENSG00000258033 Na Na Na Na Na Na Het;A>G 1102;19|47 Het;A>G 717;22|36 Hom;A>G 1936;0|76 N N - 12 101552075 101552075 G A snp synonymous SNV C1662T Y554Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic SLC5A8 Slc5a8 ENSG00000262217 solute carrier family 5 member 8 chr12:101549271-101604185 SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008] thyroid cancer Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0022803;passive transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC5A8 https://www.ncbi.nlm.nih.gov/omim/?term=608044 http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A8&submit=Quick%0D%20466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A8 rs2671444 0.752995 0.7190 0.6817 1 0 0 exonic exonic exonic SLC5A8 SLC5A8 ENSG00000256870 synonymous SNV synonymous SNV unknown SLC5A8:NM_145913:exon14:c.C1662T:p.Y554Y, SLC5A8:uc001thz.4:exon14:c.C1662T:p.Y554Y, UNKNOWN Het;G>A 554;54|31 Het;G>A 1419;69|71 Hom;G>A 3152;2|124 N N - 12 101988774 101988774 G T snp UTR5 -75G>T MYBPC1 Mybpc1 ENSG00000196091 myosin binding protein C, slow type chr12:101962131-102079796 This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Striated Muscle Contraction GO:0006936;muscle contraction;IEA|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0030049;muscle filament sliding;TAS|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;IBA|GO:0030016;myofibril;ISS|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0031432;titin binding;ISS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MYBPC1 https://hpo.jax.org/app/browse/search?q=MYBPC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160794 http://www.informatics.jax.org/searchtool/Search.do?query=MYBPC1&submit=Quick%0D%16251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPC1 rs1697477 0.163738 0.1307 0 1 0 0 UTR5 UTR5 UTR5 MYBPC1(NM_002465:c.-75G>T,NM_001254720:c.-75G>T,NM_206820:c.-75G>T,NM_001254722:c.-75G>T,NM_206821:c.-75G>T,NM_001254723:c.-75G>T,NM_001254718:c.-75G>T,NM_001254719:c.-75G>T,NM_206819:c.-75G>T,NM_001254721:c.-75G>T) MYBPC1(uc001tif.2:c.-75G>T,uc001tih.3:c.-75G>T,uc010svq.2:c.-75G>T,uc001tig.3:c.-75G>T,uc001tii.3:c.-75G>T,uc010svs.2:c.-75G>T,uc010svr.2:c.-75G>T,uc001tij.3:c.-75G>T,uc010svt.2:c.-75G>T,uc010svu.2:c.-75G>T,uc001tik.3:c.-75G>T) ENSG00000196091(ENST00000547405:c.-75G>T,ENST00000360610:c.-75G>T,ENST00000441232:c.-75G>T,ENST00000452455:c.-75G>T,ENST00000549145:c.-75G>T,ENST00000361685:c.-75G>T,ENST00000547509:c.-75G>T,ENST00000392934:c.-75G>T,ENST00000553190:c.-75G>T,ENST00000361466:c.-75G>T,ENST00000541119:c.-75G>T,ENST00000536007:c.-75G>T,ENST00000545503:c.-75G>T) Na Na Na Na Na Na Het;G>T 1560;88|73 Ref Hom;G>T 3942;0|141 N N - 12 1021682 1021682 A AAT indel UTR3 *875T>ATT RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs10687302 0.107827 0 0 1 0 0 UTR3 UTR3 UTR3 RAD52(NM_001297419:c.*875T>ATT,NM_001297421:c.*875T>ATT,NM_134424:c.*875T>ATT) RAD52(uc031qfl.1:c.*875T>ATT,uc001qis.1:c.*875T>ATT,uc001qit.2:c.*875T>ATT,uc010sdt.1:c.*875T>ATT,uc001qiu.1:c.*875T>ATT) ENSG00000002016(ENST00000358495:c.*875T>ATT,ENST00000468231:c.*1918T>ATT) Na Na Na Na Na Na Het;+AT 155;19|7 Het;+AT 754;7|23 Hom;+AT 1036;1|29 N N - 12 1022352 1022352 A G snp UTR3 *205T>C RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs11571475 0.108227 0 0 1 0 0 UTR3 UTR3 UTR3 RAD52(NM_001297419:c.*205T>C,NM_001297421:c.*205T>C,NM_134424:c.*205T>C) RAD52(uc031qfl.1:c.*205T>C,uc001qis.1:c.*205T>C,uc001qit.2:c.*205T>C,uc010sdt.1:c.*205T>C,uc001qiu.1:c.*205T>C) ENSG00000002016(ENST00000358495:c.*205T>C,ENST00000468231:c.*1248T>C,ENST00000430095:c.*205T>C,ENST00000539046:c.*205T>C) Na Na Na Na Na Na Het;A>G 1171;78|51 Het;A>G 1563;64|66 Hom;A>G 4065;1|142 N N - 12 102924964 102924972 GTCTATCTA G indel intergenic IGF1 Igf1 ENSG00000017427 insulin like growth factor 1 chr12:102789645-102874423 The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015] bone density; lymphocyte subset counts in neonates; Type 2 Diabetes| edema | rosiglitazone; body height; Multiple Myeloma; breast cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Insulin Resistance; osteoporosis; cirrhosis, primary biliary; Infection|Inflammation|Premature Birth; null; Coronary Artery Disease; breast cancer|prostate cancer; Lymphoma, Non-Hodgkin; Tobacco Use Disorder; body mass; birth weight; height; diabetes, type 2; preeclampsia; Breast density; ovarian cancer ; fasting glucose-related traits ; Growth Disorders; bone mineral density; Chronic renal failure|Kidney Failure, Chronic; bone density fractures, vertebral; bladder cancer; Breast Diseases; Glucose Transporter Type 2; height; triglycerides; Acromegaly; Colonic Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Adenocarcinoma|Diabetes Mellitus|Pancreatic Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; diabetes, type 2; cardiovascular disease; birth weight; low birthweight; Myopia; Breast Neoplasms; Fibromyoma; ovarian cancer; BMI- Edema rosiglitazone or pioglitazone; growth response to growth hormone therapy; Breast Neoplasms|; Body Weight; myocardial infarct, mortality in; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; Bone Diseases, Metabolic|Scoliosis; colon cancer; Brain Neoplasms|; postnatal growth; insulin-like growth factors; Apoplexy|Stroke; mamographic density; primary biliary cirrhosis]; Bronchopulmonary Dysplasia|; Inflammation|Premature Birth; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary|Osteoporosis; epithelial ovarian cancer ; Birth Weight; esophageal adenocarcinoma; fat free mass; lung cancer ; growth hormone-deficient; diabetes, type 2; liver disease; Retinopathy of Prematurity; IGF-I levels; IGFBP-3 levels; left ventricular mass in male athletes; Autism; Birth Weight|Body Weight; Diabetes Mellitus, Type 1; short stature; small for gestational age; Thyroid Diseases; intrauterine growth restriction; Leiomyoma|Uterine Neoplasms; Body Height; breast cancer ; Fractures, Bone|Hip Fractures|Proximal Humeral Fractures|Shoulder Fractures|Wrist Injuries; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms; retinopathy, diabetic; Bone Mineral Density; Colonic Neoplasms|Microsatellite Instability; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; insulin-like growth factor-1; Insulin-like growth factor-3; Laron-type dwarfism; colon cancer rectal cancer; Endometrial Neoplasms; Scoliosis; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; osteoarthritis; patent ductus arteriosus; Abortion, Spontaneous; IGF1 plasma level; Hypertension; subarachnoid hemorrhage; insulin-like growth factor-1; estrogen metabolism; insulin; breast cancer; insulin-like growth factor; Melanoma; IGF-I; insulin resistance; Hypercholesterolemia|LDLC levels; Type 2 diabetes; atherosclerosis; lung cancer; diabetes, type 2; obesity; colorectal cancer; body mass; fasting insulin-related traits; Bulimia; microalbuminuria; Diabetic Retinopathy; prostatic hyperplasia; prostate cancer; muscle testing; prostate cancer | breast cancer ; glucose-stimulated beta cell function; insulin-like growth factor; cytosine-adenosine repeat polymorphism of IGF-I gene; prostate cancer; stature among African Pygmies; Alzheimer's disease ; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Breast Neoplasms|Colorectal Neoplasms|Neoplasms|Prostatic Neoplasms; hypertension; Testicular Neoplasms; Breast Neoplasms|Mammary Neoplasms; weight gain; diabetes, type 2; myocardial infarction; chronic obstructive pulmonary disease; Myocardial Infarction; Fetal Growth Retardation|; Diabetes Mellitus, Type 2 Homozygous null mutants are severely growth retarded and die perinatally with many immature organ systems. Heterozygotes and partial knockouts show genetic background effects and can display growth retardation and abnormalities in muscle, lungs, and CNS. Synthesis, secretion, and deacylation of Ghrelin GO:0000187;activation of MAPK activity;IMP|GO:0001501;skeletal system development;TAS|GO:0001775;cell activation;IDA|GO:0002576;platelet degranulation;TAS|GO:0006260;DNA replication;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007517;muscle organ development;TAS|GO:0008283;cell proliferation;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0009408;response to heat;IDA|GO:0009441;glycolate metabolic process;TAS|GO:0010468;regulation of gene expression;IMP|GO:0010560;positive regulation of glycoprotein biosynthetic process;IMP|GO:0010613;positive regulation of cardiac muscle hypertrophy;IMP|GO:0014065;phosphatidylinositol 3-kinase signaling;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014834;skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration;IDA|GO:0014896;muscle hypertrophy;IMP|GO:0014904;myotube cell development;IDA|GO:0014911;positive regulation of smooth muscle cell migration;IDA|GO:0030166;proteoglycan biosynthetic process;IMP|GO:0030335;positive regulation of cell migration;IMP|GO:0032148;activation of protein kinase B activity;IMP|GO:0033160;positive regulation of protein import into nucleus, translocation;IDA|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IDA|GO:0035630;bone mineralization involved in bone maturation;IDA|GO:0040014;regulation of multicellular organism growth;IEP|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043388;positive regulation of DNA binding;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045445;myoblast differentiation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045821;positive regulation of glycolytic process;IDA|GO:0045840;positive regulation of mitotic nuclear division;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046326;positive regulation of glucose import;IDA|GO:0046579;positive regulation of Ras protein signal transduction;IDA|GO:0048009;insulin-like growth factor receptor signaling pathway;IMP|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050821;protein stabilization;IMP|GO:0051450;myoblast proliferation;IDA|GO:0060283;negative regulation of oocyte development;IMP|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;IDA|GO:0070371;ERK1 and ERK2 cascade;IMP|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;IDA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;ISS|GO:1904075;positive regulation of trophectodermal cell proliferation;IMP|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0016942;insulin-like growth factor binding protein complex;IC|GO:0031093;platelet alpha granule lumen;TAS|GO:0035867;alphav-beta3 integrin-IGF-1-IGF1R complex;IDA|GO:0042567;insulin-like growth factor ternary complex;IDA|GO:0070382;exocytic vesicle;ISS GO:0005158;insulin receptor binding;IPI|GO:0005159;insulin-like growth factor receptor binding;IPI|GO:0005178;integrin binding;IDA|GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGF1 https://www.uniprot.org/uniprot/P05019 https://hpo.jax.org/app/browse/search?q=IGF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147440 http://www.informatics.jax.org/searchtool/Search.do?query=IGF1&submit=Quick%0D%632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF1 rs564881852 0 0 0 1 0 0 intergenic intergenic intergenic IGF1(dist=50586),LINC00485(dist=278089) IGF1(dist=50586),LINC00485(dist=278089) ENSG00000257254(dist=17531),ENSG00000258169(dist=278086) Na Na Na Na Na Na Het;-TCTATCTA 149;8|5 Het;-TCTATCTA 114;13|5 Hom;-TCTATCTA 517;0|13 N N - 12 103204525 103204525 G GCACAGAGCCAGT indel ncRNA_exonic LINC00485 rs111807403 0.643171 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00485 LINC00485 ENSG00000258169 Na Na Na Na Na Na Het;+CACAGAGCCAGT 1655;62|46 Ref Hom;+CACAGAGCCAGT 3086;0|73 N N - 12 103310715 103310715 T C snp intronic PAH Pah ENSG00000171759 phenylalanine hydroxylase chr12:103230663-103352188 PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures. Phenylalanine and tyrosine catabolism GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAH https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612349 http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH rs1522295 0.335264 0 0 1 0 0 intronic intronic intronic PAH PAH ENSG00000171759 Na Na Na Na Na Na Het;T>C 480;16|17 Ref Hom;T>C 737;0|22 N N - 12 103310787 103310787 G A snp intronic PAH Pah ENSG00000171759 phenylalanine hydroxylase chr12:103230663-103352188 PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures. Phenylalanine and tyrosine catabolism GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAH https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612349 http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH rs1522296 0.363618 0.3771 0 1 0 0 intronic intronic intronic PAH PAH ENSG00000171759 Na Na Na Na Na Na Het;G>A 1129;70|49 Ref Hom;G>A 2338;0|81 N N - 12 103310979 103310979 T G snp UTR5 -71A>C PAH Pah ENSG00000171759 phenylalanine hydroxylase chr12:103230663-103352188 PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] prostate cancer; tardive dyskinesia; schizophrenia; intragenic polymorphic markers; null; Autism; phenylketonuria; Phenylketonurias; PKU; phenylketonuria/PKU; phenylalanine hydroxylase deficiency; hyperphenylalaninaemia; Hallucinations; Bulimia; galactosemia; hyperphenylalaninaemia; phenylalanine hydroxylase (PAH) deficiency Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures. Phenylalanine and tyrosine catabolism GO:0006559;L-phenylalanine catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0042136;neurotransmitter biosynthetic process;NAS|GO:0042423;catecholamine biosynthetic process;NAS|GO:0055114;oxidation-reduction process;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0004505;phenylalanine 4-monooxygenase activity;EXP|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAH https://hpo.jax.org/app/browse/search?q=PAH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612349 http://www.informatics.jax.org/searchtool/Search.do?query=PAH&submit=Quick%0D%13000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAH rs2280615 0.125998 0.1586 0 1 0 0 UTR5 UTR5 UTR5 PAH(NM_000277:c.-71A>C) PAH(uc001tjq.1:c.-71A>C,uc010swc.1:c.-71A>C) ENSG00000171759(ENST00000553106:c.-71A>C,ENST00000307000:c.-3355A>C,ENST00000551337:c.-71A>C,ENST00000546844:c.-71A>C) Na Na Na Na Na Na Het;T>G 1685;72|65 Ref Hom;T>G 2902;0|97 N N - 12 1036562 1036563 AG A indel intronic RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs11571441 0.103235 0 0 1 0 0 intronic intronic intronic RAD52 RAD52 ENSG00000002016 Na Na Na Na Na Na Het;-G 152;6|6 Ref Hom;-G 147;0|5 N N - 12 103662895 103662895 T C snp intronic C12orf42 1700113H08Rik ENSG00000179088 chromosome 12 open reading frame 42 chr12:103631369-103889749 Respiratory Function Tests; Coronary Restenosis; Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/C12orf42 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf42&submit=Quick%0D%14288ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf42 rs1520191 0.311701 0 0 1 0 0 intergenic intergenic intronic NONE(dist=NONE),NONE(dist=NONE) NONE(dist=NONE),NONE(dist=NONE) ENSG00000179088 Na Na Na Na Na Na Het;T>C 160;1|5 Ref Hom;T>C 95;0|3 N N - 12 1038766 1038766 C G snp intronic RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs11571425 0.102636 0 0 1 0 0 intronic intronic intronic RAD52 RAD52 ENSG00000002016 Na Na Na Na Na Na Het;C>G 153;5|5 Ref Hom;C>G 224;0|6 N N - 12 1038854 1038854 C T snp intronic RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs11571424 0.0926518 0.1013 0.1091 1 0 0 intronic intronic intronic RAD52 RAD52 ENSG00000002016 Na Na Na Na Na Na Het;C>T 732;30|31 Het;C>T 550;20|24 Hom;C>T 1272;0|42 N N - 12 1038978 1038978 C CT indel unknown RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs35278212 0.0864617 0.1143 0.1099 1 0 0 intronic UTR5 exonic RAD52 RAD52(uc001qit.2:c.-13082G>AG) ENSG00000002016 Na Na unknown Na Na UNKNOWN Het;+T 1911;72|58 Het;+T 1813;55|54 Hom;+T 4699;0|118 N N - 12 103951129 103951129 T C snp ncRNA_intronic BC041342 rs4131522 0.733027 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929084 BC041342 ENSG00000257762 Na Na Na Na Na Na Het;T>C 239;11|8 Het;T>C 90;14|5 Hom;T>C 302;0|9 N N - 12 104048454 104048454 C A snp nonsynonymous SNV C1529A P510H hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) STAB2 Stab2 ENSG00000136011 stabilin 2 chr12:103981051-104160505 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008] Calcium; Abdominal Fat; Stroke; F8 protein, human; Tobacco Use Disorder; Coronary Disease Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis. Scavenging by Class H Receptors GO:0001525;angiogenesis;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007155;cell adhesion;NAS|GO:0010468;regulation of gene expression;IMP|GO:0030193;regulation of blood coagulation;IMP|GO:0030214;hyaluronan catabolic process;TAS|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB2 https://www.uniprot.org/uniprot/Q8WWQ8 https://www.ncbi.nlm.nih.gov/omim/?term=608561 http://www.informatics.jax.org/searchtool/Search.do?query=STAB2&submit=Quick%0D%7269ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB2 rs1609860 0.086262 0.0592 0.1003 0.77 10 13 exonic exonic exonic STAB2 STAB2 ENSG00000136011 nonsynonymous SNV nonsynonymous SNV unknown STAB2:NM_017564:exon13:c.C1529A:p.P510H, STAB2:uc001tjw.3:exon13:c.C1529A:p.P510H, UNKNOWN Het;C>A 665;48|33 Het;C>A 1114;75|56 Hom;C>A 3322;0|126 N N - 12 104100617 104100617 C T snp synonymous SNV C4044T C1348C polar,hydrophobic,neutral polar,hydrophobic,neutral STAB2 Stab2 ENSG00000136011 stabilin 2 chr12:103981051-104160505 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008] Calcium; Abdominal Fat; Stroke; F8 protein, human; Tobacco Use Disorder; Coronary Disease Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis. Scavenging by Class H Receptors GO:0001525;angiogenesis;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007155;cell adhesion;NAS|GO:0010468;regulation of gene expression;IMP|GO:0030193;regulation of blood coagulation;IMP|GO:0030214;hyaluronan catabolic process;TAS|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB2 https://www.uniprot.org/uniprot/Q8WWQ8 https://www.ncbi.nlm.nih.gov/omim/?term=608561 http://www.informatics.jax.org/searchtool/Search.do?query=STAB2&submit=Quick%0D%7269ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB2 rs697212 0.430911 0.3918 0.4835 1 0 0 exonic exonic exonic STAB2 STAB2 ENSG00000136011 synonymous SNV synonymous SNV unknown STAB2:NM_017564:exon38:c.C4044T:p.C1348C, STAB2:uc001tjw.3:exon38:c.C4044T:p.C1348C, UNKNOWN Het;C>T 2152;101|98 Ref Hom;C>T 4899;0|182 N N - 12 104277572 104277572 C T snp ncRNA_exonic GNN rs2583237 0.0932508 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic GNN GNN(uc010swf.3:c.-1238G>A) ENSG00000214198 Na Na Na Na Na Na Het;C>T 1576;112|76 Het;C>T 1840;108|83 Hom;C>T 5956;0|213 N N - 12 104287115 104287115 G A snp ncRNA_exonic GNN rs2583235 0.0930511 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic GNN GNN(uc010swf.3:c.-10781C>T) ENSG00000214198 Na Na Na Na Na Na Het;G>A 2482;86|107 Het;G>A 1788;74|83 Hom;G>A 4917;0|184 N N - 12 104300079 104300079 G A snp ncRNA_exonic GNN rs2583234 0.0854633 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic GNN GNN(uc010swf.3:c.-23745C>T) ENSG00000214198 Na Na Na Na Na Na Het;G>A 668;44|33 Het;G>A 790;33|36 Hom;G>A 1931;0|73 N N - 12 104304981 104304981 C T snp ncRNA_intronic TTC41P rs2576942 0.351238 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic GNN GNN ENSG00000214198 Na Na Na Na Na Na Het;C>T 113;8|5 Het;C>T 62;3|3 Hom;C>T 118;0|4 N N - 12 105260159 105260165 TACACAC T indel intronic SLC41A2 Slc41a2 ENSG00000136052 solute carrier family 41 member 2 chr12:105196331-105352522 Apolipoproteins B Metal ion SLC transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IBA|GO:0070838;divalent metal ion transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1903830;magnesium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015095;magnesium ion transmembrane transporter activity;TAS|GO:0072509;divalent inorganic cation transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC41A2 https://www.uniprot.org/uniprot/Q96JW4 https://www.ncbi.nlm.nih.gov/omim/?term=610802 http://www.informatics.jax.org/searchtool/Search.do?query=SLC41A2&submit=Quick%0D%7278ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC41A2 rs149586274 0 0 0.4165 1 0 0 intronic intronic intronic SLC41A2 SLC41A2 ENSG00000136052 Na Na Na Na Na Na Het;-ACACAC 512;11|17 Ref Hom;-ACACAC 1297;2|32 N N - 12 105260365 105260366 TA T indel intronic SLC41A2 Slc41a2 ENSG00000136052 solute carrier family 41 member 2 chr12:105196331-105352522 Apolipoproteins B Metal ion SLC transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IBA|GO:0070838;divalent metal ion transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1903830;magnesium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015095;magnesium ion transmembrane transporter activity;TAS|GO:0072509;divalent inorganic cation transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC41A2 https://www.uniprot.org/uniprot/Q96JW4 https://www.ncbi.nlm.nih.gov/omim/?term=610802 http://www.informatics.jax.org/searchtool/Search.do?query=SLC41A2&submit=Quick%0D%7278ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC41A2 rs34984157 0.320487 0 0.4169 1 0 0 intronic intronic intronic SLC41A2 SLC41A2 ENSG00000136052 Na Na Na Na Na Na Het;-A 534;9|31 Het;-A 237;23|19 Hom;-A 526;2|25 N N - 12 105279931 105279931 C A snp intronic SLC41A2 Slc41a2 ENSG00000136052 solute carrier family 41 member 2 chr12:105196331-105352522 Apolipoproteins B Metal ion SLC transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IBA|GO:0070838;divalent metal ion transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1903830;magnesium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015095;magnesium ion transmembrane transporter activity;TAS|GO:0072509;divalent inorganic cation transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC41A2 https://www.uniprot.org/uniprot/Q96JW4 https://www.ncbi.nlm.nih.gov/omim/?term=610802 http://www.informatics.jax.org/searchtool/Search.do?query=SLC41A2&submit=Quick%0D%7278ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC41A2 rs17829927 0.379193 0 0 1 0 0 intronic intronic intronic SLC41A2 SLC41A2 ENSG00000136052 Na Na Na Na Na Na Het;C>A 33;4|2 Ref Hom;C>A 207;0|6 N N - 12 1058917 1058918 AG A indel intronic RAD52 Rad52 ENSG00000002016 RAD52 homolog, DNA repair protein chr12:1021243-1099219 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] bladder cancer leukemia lung cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Papillary|Thyroid Neoplasms; epithelial ovarian cancer ; ovarian cancer; breast cancer; Alcoholism; head and neck cancer; chronic obstructive pulmonary disease; multiple sclerosis; Breast Neoplasms|; Brain Neoplasms|Glioma; esophageal adenocarcinoma; breast cancer ; prostate cancer; bladder cancer; lung cancer; Colorectal Neoplasms; lung cancer ; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal reproductive and immune systems. HDR through Single Strand Annealing (SSA) GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000730;DNA recombinase assembly;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;TAS|GO:0006310;DNA recombination;IMP|GO:0006974;cellular response to DNA damage stimulus;IGI|GO:0010792;DNA double-strand break processing involved in repair via single-strand annealing;IDA|GO:0034599;cellular response to oxidative stress;IDA|GO:0045002;double-strand break repair via single-strand annealing;IEA|GO:0051260;protein homooligomerization;IMP|GO:2000819;regulation of nucleotide-excision repair;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IMP|GO:0043234;protein complex;IDA GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD52 https://www.uniprot.org/uniprot/P43351 https://www.ncbi.nlm.nih.gov/omim/?term=600392 http://www.informatics.jax.org/searchtool/Search.do?query=RAD52&submit=Quick%0D%287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD52 rs59753330 0.988219 0 0 1 0 0 intronic intronic intronic RAD52 RAD52 ENSG00000002016 Na Na Na Na Na Na Het;-G 1327;12|64 Het;-G 641;16|33 Hom;-G 1724;4|75 N N - 12 105961210 105961210 T G snp intergenic C12orf75 1500009L16Rik ENSG00000235162 chromosome 12 open reading frame 75 chr12:105629068-105789875 Body Weight Changes; Hematocrit; Creatinine; Waist Circumference; Cardiovascular Diseases; Cholesterol; Glucose; Hip; Insulin Resistance http://www.genecards.org/index.php?path=/Search/keyword/C12orf75 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf75&submit=Quick%0D%19316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf75 rs2694403 0.878994 0 0 1 0 0 intergenic intergenic intergenic C12orf75(dist=195914),CASC18(dist=136771) C12orf75(dist=195914),NUAK1(dist=495915) ENSG00000235162(dist=171335),ENSG00000257859(dist=136771) Na Na Na Na Na Na Het;T>G 393;12|18 Het;T>G 129;3|6 Hom;T>G 132;0|5 N N - 12 106409695 106409695 C T snp ncRNA_exonic AC011595.2 rs2468218 0.368211 0 0 1 0 0 intergenic intergenic ncRNA_exonic CASC18(dist=271854),NUAK1(dist=47430) C12orf75(dist=644399),NUAK1(dist=47430) ENSG00000257773 Na Na Na Na Na Na Het;C>T 516;24|24 Ref Hom;C>T 808;0|31 N N - 12 106751875 106751875 C T snp UTR5 -8573C>T POLR3B Polr3b ENSG00000013503 RNA polymerase III subunit B chr12:106751436-106903976 This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Cognitive test performance RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032728;positive regulation of interferon-beta production;IMP|GO:0045087;innate immune response;IEA|GO:0045089;positive regulation of innate immune response;IMP|GO:0051607;defense response to virus;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IDA|GO:0005829;cytosol;TAS GO:0001056;RNA polymerase III activity;IBA|GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0032549;ribonucleoside binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLR3B https://www.uniprot.org/uniprot/Q9NW08 https://hpo.jax.org/app/browse/search?q=POLR3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614366 http://www.informatics.jax.org/searchtool/Search.do?query=POLR3B&submit=Quick%0D%596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR3B rs17285274 0.154553 0 0 1 0 0 UTR5 UTR5 UTR5 POLR3B(NM_001160708:c.-8573C>T) POLR3B(uc001tlq.3:c.-8573C>T) ENSG00000013503(ENST00000539066:c.-8573C>T) Na Na Na Na Na Na Het;C>T 131;4|5 Ref Hom;C>T 88;0|3 N N - 12 108219468 108219468 C G snp intergenic ASCL4 Ascl4 ENSG00000187855 achaete-scute family bHLH transcription factor 4 chr12:108168162-108170421 Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] Diabetes Mellitus GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0043588;skin development;NAS GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0090575;RNA polymerase II transcription factor complex;IBA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASCL4 https://www.ncbi.nlm.nih.gov/omim/?term=609155 http://www.informatics.jax.org/searchtool/Search.do?query=ASCL4&submit=Quick%0D%15914ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASCL4 rs9919690 0.413538 0 0 1 0 0 intergenic intergenic intergenic ASCL4(dist=49047),LOC728739(dist=77459) ASCL4(dist=49047),LOC728739(dist=77459) ENSG00000263632(dist=25971),ENSG00000257141(dist=7167) Na Na Na Na Na Na Het;C>G 183;8|6 Het;C>G 185;11|8 Hom;C>G 156;0|6 N N - 12 108853411 108853411 A C snp ncRNA_intronic LINC01498 rs7299801 0.252596 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01498 CMKLR1(dist=120317),FICD(dist=55640) ENSG00000247213 Na Na Na Na Na Na Het;A>C 785;33|31 Ref Hom;A>C 1311;0|41 N N - 12 108867411 108867411 G A snp ncRNA_exonic LINC01498 rs4964712 0.349042 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01498 CMKLR1(dist=134317),FICD(dist=41640) ENSG00000247213 Na Na Na Na Na Na Het;G>A 2046;106|89 Ref Hom;G>A 5023;2|187 N N - 12 108986112 108986112 G C snp synonymous SNV C48G L16L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM119 Tmem119 ENSG00000183160 transmembrane protein 119 chr12:108983622-108992096 Mice homozygous for a targeted allele exhibit growth retardation associated with delayed endochondral bone ossification and impaired osteoblast differentiation. GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0031214;biomineral tissue development;IEA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0048515;spermatid differentiation;IEA|GO:1903012;positive regulation of bone development;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM119 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM119&submit=Quick%0D%14935ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM119 rs10861953 0.196885 0.1537 0.2348 1 0 0 exonic exonic exonic TMEM119 TMEM119 ENSG00000183160 synonymous SNV synonymous SNV unknown TMEM119:NM_181724:exon2:c.C48G:p.L16L, TMEM119:uc001tng.3:exon2:c.C48G:p.L16L,TMEM119:uc021rdl.1:exon1:c.C48G:p.L16L, UNKNOWN Het;G>C 1187;72|54 Ref Hom;G>C 2992;0|109 N N - 12 109025901 109025901 A G snp ncRNA_intronic AC007569.1 rs765267 0.53155 0 0 1 0 0 intronic intronic ncRNA_intronic SELPLG SELPLG ENSG00000257221 Na Na Na Na Na Na Het;A>G 46;2|2 Ref Hom;A>G 63;0|3 N N - 12 109095137 109095137 A G snp intronic CORO1C Coro1c ENSG00000110880 coronin 1C chr12:109038885-109125372 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Diabetes Mellitus, Type 2; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Heart Rate; Meningeal Neoplasms|meningioma GO:0001755;neural crest cell migration;IMP|GO:0001932;regulation of protein phosphorylation;IGI|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0006909;phagocytosis;TAS|GO:0007165;signal transduction;TAS|GO:0010632;regulation of epithelial cell migration;IGI|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0010762;regulation of fibroblast migration;ISS|GO:0030036;actin cytoskeleton organization;IBA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IMP|GO:0045184;establishment of protein localization;ISS|GO:0051893;regulation of focal adhesion assembly;IGI|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0090630;activation of GTPase activity;ISS|GO:1900024;regulation of substrate adhesion-dependent cell spreading;IGI|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IMP|GO:1900027;regulation of ruffle assembly;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016600;flotillin complex;ISS|GO:0030027;lamellipodium;IDA|GO:0031982;vesicle;IDA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0048365;Rac GTPase binding;IEA|GO:0051015;actin filament binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/CORO1C https://www.uniprot.org/uniprot/Q9ULV4 https://www.ncbi.nlm.nih.gov/omim/?term=605269 http://www.informatics.jax.org/searchtool/Search.do?query=CORO1C&submit=Quick%0D%4003ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CORO1C rs3741782 0.2498 0.2308 0.3102 1 0 0 intronic intronic intronic CORO1C CORO1C ENSG00000110880 Na Na Na Na Na Na Het;A>G 314;11|12 Ref Hom;A>G 1182;0|43 N N - 12 109183144 109183144 C CT indel intronic SSH1 Ssh1 ENSG00000084112 slingshot protein phosphatase 1 chr12:109176466-109251366 The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Cholesterol; Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms; Cholesterol, LDL GO:0000902;cell morphogenesis;IMP|GO:0006470;protein dephosphorylation;IMP|GO:0008064;regulation of actin polymerization or depolymerization;IBA|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0016311;dephosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IMP|GO:0031915;positive regulation of synaptic plasticity;IEA|GO:0032268;regulation of cellular protein metabolic process;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050770;regulation of axonogenesis;IBA|GO:0071318;cellular response to ATP;IDA|GO:0098976;excitatory chemical synaptic transmission;IEA|GO:1901216;positive regulation of neuron death;IEA|GO:1904719;positive regulation of AMPA glutamate receptor clustering;IEA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0031252;cell leading edge;IEA|GO:0032154;cleavage furrow;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IMP|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SSH1 https://www.uniprot.org/uniprot/Q8WYL5 https://www.ncbi.nlm.nih.gov/omim/?term=606778 http://www.informatics.jax.org/searchtool/Search.do?query=SSH1&submit=Quick%0D%1856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSH1 rs397957262 0.265775 0 0 1 0 0 intronic intronic intronic SSH1 SSH1 ENSG00000084112 Na Na Na Na Na Na Het;+T 123;4|5 Ref Hom;+T 187;0|6 N N - 12 109205189 109205189 C T snp intronic SSH1 Ssh1 ENSG00000084112 slingshot protein phosphatase 1 chr12:109176466-109251366 The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Cholesterol; Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms; Cholesterol, LDL GO:0000902;cell morphogenesis;IMP|GO:0006470;protein dephosphorylation;IMP|GO:0008064;regulation of actin polymerization or depolymerization;IBA|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0016311;dephosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IMP|GO:0031915;positive regulation of synaptic plasticity;IEA|GO:0032268;regulation of cellular protein metabolic process;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050770;regulation of axonogenesis;IBA|GO:0071318;cellular response to ATP;IDA|GO:0098976;excitatory chemical synaptic transmission;IEA|GO:1901216;positive regulation of neuron death;IEA|GO:1904719;positive regulation of AMPA glutamate receptor clustering;IEA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0031252;cell leading edge;IEA|GO:0032154;cleavage furrow;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IMP|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SSH1 https://www.uniprot.org/uniprot/Q8WYL5 https://www.ncbi.nlm.nih.gov/omim/?term=606778 http://www.informatics.jax.org/searchtool/Search.do?query=SSH1&submit=Quick%0D%1856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSH1 rs11114060 0.314696 0 0 1 0 0 intronic intronic intronic SSH1 SSH1 ENSG00000084112 Na Na Na Na Na Na Het;C>T 335;14|12 Ref Hom;C>T 757;0|25 N N - 12 109217007 109217007 G GT indel intronic SSH1 Ssh1 ENSG00000084112 slingshot protein phosphatase 1 chr12:109176466-109251366 The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Cholesterol; Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms; Cholesterol, LDL GO:0000902;cell morphogenesis;IMP|GO:0006470;protein dephosphorylation;IMP|GO:0008064;regulation of actin polymerization or depolymerization;IBA|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0016311;dephosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IMP|GO:0031915;positive regulation of synaptic plasticity;IEA|GO:0032268;regulation of cellular protein metabolic process;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050770;regulation of axonogenesis;IBA|GO:0071318;cellular response to ATP;IDA|GO:0098976;excitatory chemical synaptic transmission;IEA|GO:1901216;positive regulation of neuron death;IEA|GO:1904719;positive regulation of AMPA glutamate receptor clustering;IEA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0031252;cell leading edge;IEA|GO:0032154;cleavage furrow;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IMP|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SSH1 https://www.uniprot.org/uniprot/Q8WYL5 https://www.ncbi.nlm.nih.gov/omim/?term=606778 http://www.informatics.jax.org/searchtool/Search.do?query=SSH1&submit=Quick%0D%1856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSH1 rs34849596 0.269768 0.2070 0.3582 1 0 0 intronic intronic intronic SSH1 SSH1 ENSG00000084112 Na Na Na Na Na Na Het;+T 1054;25|34 Ref Hom;+T 1084;0|30 N N - 12 109221013 109221013 C A snp intronic SSH1 Ssh1 ENSG00000084112 slingshot protein phosphatase 1 chr12:109176466-109251366 The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Cholesterol; Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms; Cholesterol, LDL GO:0000902;cell morphogenesis;IMP|GO:0006470;protein dephosphorylation;IMP|GO:0008064;regulation of actin polymerization or depolymerization;IBA|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0016311;dephosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IMP|GO:0031915;positive regulation of synaptic plasticity;IEA|GO:0032268;regulation of cellular protein metabolic process;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050770;regulation of axonogenesis;IBA|GO:0071318;cellular response to ATP;IDA|GO:0098976;excitatory chemical synaptic transmission;IEA|GO:1901216;positive regulation of neuron death;IEA|GO:1904719;positive regulation of AMPA glutamate receptor clustering;IEA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IEA|GO:0031252;cell leading edge;IEA|GO:0032154;cleavage furrow;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IMP|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SSH1 https://www.uniprot.org/uniprot/Q8WYL5 https://www.ncbi.nlm.nih.gov/omim/?term=606778 http://www.informatics.jax.org/searchtool/Search.do?query=SSH1&submit=Quick%0D%1856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSH1 rs10861970 0.365815 0 0.3551 1 0 0 intronic intronic intronic SSH1 SSH1 ENSG00000084112 Na Na Na Na Na Na Het;C>A 786;24|37 Ref Hom;C>A 1363;0|52 N N - 12 109287984 109287984 A G snp intronic DAO Dao ENSG00000110887 D-amino acid oxidase chr12:109252708-109294819 This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008] bipolar affective disorder; Schizophrenia; schizophrenia; antipsychotic response | Weight Gain; Erythrocyte Count; schizophrenia | bipolar disorder; financial and psychological risk attitudes; schizophrenia; schizoaffective disorder; bipolar disorder; cognitive function schizotypy; autism; Crohn's disease ; Celiac Disease|; Hypercholesterolemia|LDLC levels; Hemoglobins Homozygous null mice display increased levels of D-serine and a decrease in the severity of behavioral effects induced by NMDA receptor antagonists. Glyoxylate metabolism and glycine degradation GO:0006562;proline catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0036088;D-serine catabolic process;IDA|GO:0042416;dopamine biosynthetic process;IDA|GO:0046416;D-amino acid metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0055130;D-alanine catabolic process;IDA|GO:0070178;D-serine metabolic process;IDA GO:0005741;mitochondrial outer membrane;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0005829;cytosol;IDA GO:0003884;D-amino-acid oxidase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0046983;protein dimerization activity;IDA|GO:0048037;cofactor binding;IDA|GO:0071949;FAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DAO https://www.uniprot.org/uniprot/P14920 https://hpo.jax.org/app/browse/search?q=DAO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124050 http://www.informatics.jax.org/searchtool/Search.do?query=DAO&submit=Quick%0D%4005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DAO rs3825251 0.266773 0 0 1 0 0 intronic intronic intronic DAO DAO ENSG00000110887 Na Na Na Na Na Na Het;A>G 1295;28|49 Ref Hom;A>G 2272;0|79 N N - 12 109354632 109354632 T C snp intronic SVOP Svop ENSG00000166111 SV2 related protein chr12:109304658-109459045 Coronary Artery Disease Mice homozygous for a knock-out allele are viable with no phenotypic abnormalities. GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SVOP https://www.ncbi.nlm.nih.gov/omim/?term=611699 http://www.informatics.jax.org/searchtool/Search.do?query=SVOP&submit=Quick%0D%11695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVOP rs36181716 0.830471 0 0 1 0 0 intronic intronic intronic SVOP SVOP ENSG00000166111 Na Na Na Na Na Na Het;T>C 446;19|19 Het;T>C 508;17|17 Hom;T>C 1241;0|43 N N - 12 109371381 109371381 C A snp intronic SVOP Svop ENSG00000166111 SV2 related protein chr12:109304658-109459045 Coronary Artery Disease Mice homozygous for a knock-out allele are viable with no phenotypic abnormalities. GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SVOP https://www.ncbi.nlm.nih.gov/omim/?term=611699 http://www.informatics.jax.org/searchtool/Search.do?query=SVOP&submit=Quick%0D%11695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVOP rs149284306 0.698283 0 0 1 0 0 intronic intronic intronic SVOP SVOP ENSG00000166111 Na Na Na Na Na Na Het;C>A 264;5|10 Het;C>A 146;9|6 Hom;C>A 247;0|8 N N - 12 109490296 109490296 G T snp ncRNA_exonic USP30-AS1 rs12426673 0.547524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic USP30-AS1 USP30-AS1 ENSG00000256262 Na Na Na Na Na Na Het;G>T 1700;96|78 Ref Hom;G>T 4345;2|153 N N - 12 109490426 109490426 C CCGGCGG indel ncRNA_exonic USP30-AS1 rs140371213 0.47484 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic USP30-AS1 USP30-AS1 ENSG00000256262 Na Na Na Na Na Na Het;+CGGCGG 2152;50|57 Ref Hom;+CGGCGG 2326;2|83 N N - 12 109491468 109491468 G A snp ncRNA_intronic USP30-AS1 rs3742028 0.542532 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic USP30-AS1 USP30-AS1 ENSG00000256262 Na Na Na Na Na Na Het;G>A 526;12|19 Ref Hom;G>A 724;0|25 N N - 12 109683575 109683575 A G snp intronic ACACB Acacb ENSG00000076555 acetyl-CoA carboxylase beta chr12:109554400-109706031 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] Hypercholesterolemia; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Bulimia; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X|Obesity, Abdominal; Glucose; Hypercholesterolemia|Hyperlipidemias; Alzheimer's disease ; Type 2 diabetes; BMI- Edema rosiglitazone or pioglitazone Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. Activation of gene expression by SREBF (SREBP) GO:0006084;acetyl-CoA metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006768;biotin metabolic process;TAS|GO:0006853;carnitine shuttle;TAS|GO:0008152;metabolic process;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0042493;response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046322;negative regulation of fatty acid oxidation;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051289;protein homotetramerization;IDA|GO:0060421;positive regulation of heart growth;IEA|GO:0097009;energy homeostasis;IEA|GO:2001295;malonyl-CoA biosynthetic process;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003989;acetyl-CoA carboxylase activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACACB https://www.uniprot.org/uniprot/O00763 https://www.ncbi.nlm.nih.gov/omim/?term=601557 http://www.informatics.jax.org/searchtool/Search.do?query=ACACB&submit=Quick%0D%1587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACACB rs10744772 0.634185 0.6149 0.6821 1 0 0 intronic intronic intronic ACACB ACACB ENSG00000076555 Na Na Na Na Na Na Het;A>G 910;40|39 Het;A>G 921;21|39 Hom;A>G 1905;0|64 N N - 12 109685545 109685545 A G snp intronic ACACB Acacb ENSG00000076555 acetyl-CoA carboxylase beta chr12:109554400-109706031 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] Hypercholesterolemia; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Bulimia; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X|Obesity, Abdominal; Glucose; Hypercholesterolemia|Hyperlipidemias; Alzheimer's disease ; Type 2 diabetes; BMI- Edema rosiglitazone or pioglitazone Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. Activation of gene expression by SREBF (SREBP) GO:0006084;acetyl-CoA metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006768;biotin metabolic process;TAS|GO:0006853;carnitine shuttle;TAS|GO:0008152;metabolic process;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0042493;response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046322;negative regulation of fatty acid oxidation;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051289;protein homotetramerization;IDA|GO:0060421;positive regulation of heart growth;IEA|GO:0097009;energy homeostasis;IEA|GO:2001295;malonyl-CoA biosynthetic process;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003989;acetyl-CoA carboxylase activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACACB https://www.uniprot.org/uniprot/O00763 https://www.ncbi.nlm.nih.gov/omim/?term=601557 http://www.informatics.jax.org/searchtool/Search.do?query=ACACB&submit=Quick%0D%1587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACACB rs2284689 0.731629 0.7683 0.7899 1 0 0 intronic intronic intronic ACACB ACACB ENSG00000076555 Na Na Na Na Na Na Het;A>G 462;26|23 Het;A>G 210;43|15 Hom;A>G 1223;0|44 N N - 12 109691991 109691991 A G snp intronic ACACB Acacb ENSG00000076555 acetyl-CoA carboxylase beta chr12:109554400-109706031 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] Hypercholesterolemia; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Bulimia; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X|Obesity, Abdominal; Glucose; Hypercholesterolemia|Hyperlipidemias; Alzheimer's disease ; Type 2 diabetes; BMI- Edema rosiglitazone or pioglitazone Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. Activation of gene expression by SREBF (SREBP) GO:0006084;acetyl-CoA metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006768;biotin metabolic process;TAS|GO:0006853;carnitine shuttle;TAS|GO:0008152;metabolic process;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0042493;response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046322;negative regulation of fatty acid oxidation;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051289;protein homotetramerization;IDA|GO:0060421;positive regulation of heart growth;IEA|GO:0097009;energy homeostasis;IEA|GO:2001295;malonyl-CoA biosynthetic process;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003989;acetyl-CoA carboxylase activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACACB https://www.uniprot.org/uniprot/O00763 https://www.ncbi.nlm.nih.gov/omim/?term=601557 http://www.informatics.jax.org/searchtool/Search.do?query=ACACB&submit=Quick%0D%1587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACACB rs2075259 0.714657 0.7676 0.7837 1 0 0 intronic intronic intronic ACACB ACACB ENSG00000076555 Na Na Na Na Na Na Het;A>G 975;22|36 Het;A>G 573;24|25 Hom;A>G 1749;0|58 N N - 12 109696838 109696838 G A snp nonsynonymous SNV G6421A V2141I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ACACB Acacb ENSG00000076555 acetyl-CoA carboxylase beta chr12:109554400-109706031 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] Hypercholesterolemia; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Bulimia; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X|Obesity, Abdominal; Glucose; Hypercholesterolemia|Hyperlipidemias; Alzheimer's disease ; Type 2 diabetes; BMI- Edema rosiglitazone or pioglitazone Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. Activation of gene expression by SREBF (SREBP) GO:0006084;acetyl-CoA metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006768;biotin metabolic process;TAS|GO:0006853;carnitine shuttle;TAS|GO:0008152;metabolic process;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0042493;response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046322;negative regulation of fatty acid oxidation;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051289;protein homotetramerization;IDA|GO:0060421;positive regulation of heart growth;IEA|GO:0097009;energy homeostasis;IEA|GO:2001295;malonyl-CoA biosynthetic process;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003989;acetyl-CoA carboxylase activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACACB https://www.uniprot.org/uniprot/O00763 https://www.ncbi.nlm.nih.gov/omim/?term=601557 http://www.informatics.jax.org/searchtool/Search.do?query=ACACB&submit=Quick%0D%1587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACACB rs2075260 0.738818 0.7810 0.7891 0.31 4 13 exonic exonic exonic ACACB ACACB ENSG00000076555 nonsynonymous SNV nonsynonymous SNV unknown ACACB:NM_001093:exon46:c.G6421A:p.V2141I, ACACB:uc001toc.3:exon46:c.G6421A:p.V2141I,ACACB:uc001tob.3:exon47:c.G6421A:p.V2141I,ACACB:uc010sxm.2:exon20:c.G2419A:p.V807I, UNKNOWN Het;G>A 1654;82|74 Het;G>A 1732;91|81 Hom;G>A 4589;0|172 N N - 12 109698566 109698566 T A snp intronic ACACB Acacb ENSG00000076555 acetyl-CoA carboxylase beta chr12:109554400-109706031 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] Hypercholesterolemia; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Bulimia; metabolic syndrome; Insulin Resistance|Metabolic Syndrome X|Obesity, Abdominal; Glucose; Hypercholesterolemia|Hyperlipidemias; Alzheimer's disease ; Type 2 diabetes; BMI- Edema rosiglitazone or pioglitazone Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. Activation of gene expression by SREBF (SREBP) GO:0006084;acetyl-CoA metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006768;biotin metabolic process;TAS|GO:0006853;carnitine shuttle;TAS|GO:0008152;metabolic process;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031325;positive regulation of cellular metabolic process;TAS|GO:0031667;response to nutrient levels;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0042493;response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046322;negative regulation of fatty acid oxidation;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051289;protein homotetramerization;IDA|GO:0060421;positive regulation of heart growth;IEA|GO:0097009;energy homeostasis;IEA|GO:2001295;malonyl-CoA biosynthetic process;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003989;acetyl-CoA carboxylase activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACACB https://www.uniprot.org/uniprot/O00763 https://www.ncbi.nlm.nih.gov/omim/?term=601557 http://www.informatics.jax.org/searchtool/Search.do?query=ACACB&submit=Quick%0D%1587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACACB rs7298135 0.721446 0 0 1 0 0 intronic intronic intronic ACACB ACACB ENSG00000076555 Na Na Na Na Na Na Het;T>A 256;23|12 Het;T>A 348;10|13 Hom;T>A 629;0|19 N N - 12 110221631 110221631 G C snp intronic TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs10774894 0.561901 0.4761 0.5389 1 0 0 intronic intronic intronic TRPV4 TRPV4 ENSG00000111199 Na Na Na Na Na Na Het;G>C 1752;90|73 Het;G>C 2135;68|93 Hom;G>C 5329;0|186 N N - 12 110231717 110231717 C G snp intronic TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs10850750 0.161542 0.1763 0.2400 1 0 0 intronic intronic intronic TRPV4 TRPV4 ENSG00000111199 Na Na Na Na Na Na Het;C>G 1015;73|51 Ref Hom;C>G 2728;0|101 N N - 12 110234658 110234658 T C snp intronic TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs3742035 0.302516 0 0 1 0 0 intronic intronic intronic TRPV4 TRPV4 ENSG00000111199 Na Na Na Na Na Na Het;T>C 34;7|3 Ref Hom;T>C 187;0|6 N N - 12 110238254 110238254 T G snp intronic TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs555440553 0.000599042 0 0 1 0 0 intronic intronic intronic TRPV4 TRPV4 ENSG00000111199 Na Na Na Na Na Na Het;T>G 138;3|5 Ref Hom;T>G 166;0|5 N N - 12 110240838 110240838 T G snp synonymous SNV A670C R224R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs3825394 0.754393 0.5808 0.6340 1 0 0 exonic exonic exonic TRPV4 TRPV4 ENSG00000111199 synonymous SNV synonymous SNV unknown TRPV4:NM_001177428:exon3:c.A670C:p.R224R,TRPV4:NM_147204:exon3:c.A670C:p.R224R,TRPV4:NM_021625:exon4:c.A670C:p.R224R,TRPV4:NM_001177433:exon3:c.A670C:p.R224R,TRPV4:NM_001177431:exon4:c.A568C:p.R190R, TRPV4:uc021rdp.1:exon3:c.A670C:p.R224R,TRPV4:uc001tpg.2:exon4:c.A568C:p.R190R,TRPV4:uc001tpk.2:exon4:c.A670C:p.R224R,TRPV4:uc001tph.2:exon3:c.A670C:p.R224R,TRPV4:uc001tpj.2:exon3:c.A670C:p.R224R,TRPV4:uc001tpi.2:exon3:c.A670C:p.R224R, UNKNOWN Het;T>G 1039;48|47 Het;T>G 976;77|52 Hom;T>G 2378;0|93 N N - 12 110246369 110246369 A G snp intronic TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs3742032 0.760583 0 0 1 0 0 intronic intronic intronic TRPV4 TRPV4 ENSG00000111199 Na Na Na Na Na Na Het;A>G 339;17|13 Het;A>G 349;6|14 Hom;A>G 552;0|16 N N - 12 110246383 110246383 T C snp intronic TRPV4 Trpv4 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 chr12:110220890-110271212 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Platelet Count; Pulmonary Disease, Chronic Obstructive; Hyponatremia|Osteoporosis; asthma Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006884;cell volume homeostasis;TAS|GO:0006970;response to osmotic stress;IEA|GO:0006971;hypotonic response;IEA|GO:0007015;actin filament organization;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007231;osmosensory signaling pathway;TAS|GO:0009612;response to mechanical stimulus;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030103;vasopressin secretion;IEA|GO:0031117;positive regulation of microtubule depolymerization;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0032868;response to insulin;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043117;positive regulation of vascular permeability;IMP|GO:0043622;cortical microtubule organization;IEA|GO:0046330;positive regulation of JNK cascade;IEA|GO:0046785;microtubule polymerization;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050891;multicellular organismal water homeostasis;IMP|GO:0055085;transmembrane transport;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071470;cellular response to osmotic stress;IEA|GO:0071476;cellular hypotonic response;IMP|GO:0071477;cellular hypotonic salinity response;IEA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IEA|GO:0071642;positive regulation of macrophage inflammatory protein 1 alpha production;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IEA|GO:0097497;blood vessel endothelial cell delamination;IMP|GO:1903444;negative regulation of brown fat cell differentiation;IEA|GO:1903759;signal transduction involved in regulation of aerobic respiration;IEA|GO:2000340;positive regulation of chemokine (C-X-C motif) ligand 1 production;IEA|GO:2000507;positive regulation of energy homeostasis;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005881;cytoplasmic microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005034;osmosensor activity;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0015275;stretch-activated, cation-selective, calcium channel activity;IMP|GO:0019901;protein kinase binding;IPI|GO:0042169;SH2 domain binding;IEA|GO:0043014;alpha-tubulin binding;IEA|GO:0048487;beta-tubulin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV4 https://www.uniprot.org/uniprot/Q9HBA0 https://hpo.jax.org/app/browse/search?q=TRPV4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605427 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV4&submit=Quick%0D%4036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV4 rs3742031 0.329673 0 0 1 0 0 intronic intronic intronic TRPV4 TRPV4 ENSG00000111199 Na Na Na Na Na Na Het;T>C 360;13|12 Ref Hom;T>C 513;0|14 N N - 12 110293678 110293678 G C snp intronic GLTP Gltp ENSG00000139433 glycolipid transfer protein chr12:110288748-110318293 The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008] Glycosphingolipid metabolism GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0046836;glycolipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IC|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA|GO:0017089;glycolipid transporter activity;TAS|GO:0051861;glycolipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GLTP https://www.uniprot.org/uniprot/Q9NZD2 https://www.ncbi.nlm.nih.gov/omim/?term=608949 http://www.informatics.jax.org/searchtool/Search.do?query=GLTP&submit=Quick%0D%7885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLTP rs3782893 0.553714 0 0 1 0 0 intronic intronic intronic GLTP GLTP ENSG00000139433 Na Na Na Na Na Na Het;G>C 290;22|12 Ref Hom;G>C 1360;0|47 N N - 12 111835009 111835009 A G snp ncRNA_intronic LINC02356 rs4766460 0.444089 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAM109A(dist=28084),SH2B3(dist=8743) FAM109A(dist=28084),SH2B3(dist=8743) ENSG00000257595 Na Na Na Na Na Na Het;A>G 178;1|9 Ref Hom;A>G 154;0|7 N N - 12 111856738 111856738 T A snp intronic SH2B3 Sh2b3 ENSG00000111252 SH2B adaptor protein 3 chr12:111843752-111889427 This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] Celiac disease; Hypothyroidism; type 1 diabetes; nasal polyposis; multiple sclerosis; Coronary Disease|Coronary heart disease|Myocardial Infarction; Diastolic blood pressure; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; systolic blood pressure; Asthma|Myocardial Infarction; blood pressure; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid; Cardiovascular Diseases; Diabetes Mellitus, Type 1; Coronary Artery Disease; Lupus Erythematosus, Systemic; hematocrit; Celiac Disease|; Eosinophils; Addison Disease|; coeliac disease; plasma eosinophil count; hypertension; Blood Pressure; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|; diabetes, type 1 Mice homozygous for a knock-out allele exhibit severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells. Factors involved in megakaryocyte development and platelet production GO:0007165;signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005829;cytosol;TAS GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0035591;signaling adaptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH2B3 https://www.uniprot.org/uniprot/Q9UQQ2 https://hpo.jax.org/app/browse/search?q=SH2B3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605093 http://www.informatics.jax.org/searchtool/Search.do?query=SH2B3&submit=Quick%0D%4049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2B3 rs7973120 0.230631 0 0 1 0 0 intronic intronic intronic SH2B3 SH2B3 ENSG00000111252 Na Na Na Na Na Na Het;T>A 110;9|6 Ref Hom;T>A 392;0|16 N N - 12 111885351 111885356 ATGGGG A indel intronic SH2B3 Sh2b3 ENSG00000111252 SH2B adaptor protein 3 chr12:111843752-111889427 This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] Celiac disease; Hypothyroidism; type 1 diabetes; nasal polyposis; multiple sclerosis; Coronary Disease|Coronary heart disease|Myocardial Infarction; Diastolic blood pressure; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; systolic blood pressure; Asthma|Myocardial Infarction; blood pressure; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid; Cardiovascular Diseases; Diabetes Mellitus, Type 1; Coronary Artery Disease; Lupus Erythematosus, Systemic; hematocrit; Celiac Disease|; Eosinophils; Addison Disease|; coeliac disease; plasma eosinophil count; hypertension; Blood Pressure; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|; diabetes, type 1 Mice homozygous for a knock-out allele exhibit severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells. Factors involved in megakaryocyte development and platelet production GO:0007165;signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IEA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005829;cytosol;TAS GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0035591;signaling adaptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH2B3 https://www.uniprot.org/uniprot/Q9UQQ2 https://hpo.jax.org/app/browse/search?q=SH2B3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605093 http://www.informatics.jax.org/searchtool/Search.do?query=SH2B3&submit=Quick%0D%4049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2B3 rs111340708 0.529752 0.3454 0.3214 1 0 0 intronic intronic intronic SH2B3 SH2B3 ENSG00000111252 Na Na Na Na Na Na Het;-TGGGG 508;29|15 Ref Hom;-TGGGG 1094;0|25 N N - 12 111894072 111894072 C T snp intronic ATXN2 Atxn2 ENSG00000204842 ataxin 2 chr12:111890018-112037480 This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Blood Pressure; Cerebellar Ataxia|; Hematocrit; multiple sclerosis; spinocerebellar ataxia; Spinocerebellar Ataxias; Cholesterol; Cholesterol, LDL; Parkinson's disease; Celiac Disease; hypertension; Autoimmune Diseases; hematocrit; Retinal Vein; Chronic renal failure|Kidney Failure, Chronic; Cystatin C; Genomic Instability|Spinocerebellar Ataxias; Celiac disease; obesity; Diastolic blood pressure; restless legs syndrome; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Cardiovascular Diseases; Erythrocyte Indices Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable. GO:0002091;negative regulation of receptor internalization;IMP|GO:0006417;regulation of translation;NAS|GO:0010603;regulation of cytoplasmic mRNA processing body assembly;IBA|GO:0016070;RNA metabolic process;NAS|GO:0033962;cytoplasmic mRNA processing body assembly;IMP|GO:0034063;stress granule assembly;IMP|GO:0050658;RNA transport;NAS GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005844;polysome;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003723;RNA binding;IDA|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATXN2 https://hpo.jax.org/app/browse/search?q=ATXN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601517 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN2&submit=Quick%0D%17402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN2 rs2073950 0.23143 0.2000 0.2157 1 0 0 intronic intronic intronic ATXN2 ATXN2 ENSG00000204842 Na Na Na Na Na Na Het;C>T 1391;43|53 Ref Hom;C>T 2575;0|90 N N - 12 111895203 111895203 C G snp intronic ATXN2 Atxn2 ENSG00000204842 ataxin 2 chr12:111890018-112037480 This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Blood Pressure; Cerebellar Ataxia|; Hematocrit; multiple sclerosis; spinocerebellar ataxia; Spinocerebellar Ataxias; Cholesterol; Cholesterol, LDL; Parkinson's disease; Celiac Disease; hypertension; Autoimmune Diseases; hematocrit; Retinal Vein; Chronic renal failure|Kidney Failure, Chronic; Cystatin C; Genomic Instability|Spinocerebellar Ataxias; Celiac disease; obesity; Diastolic blood pressure; restless legs syndrome; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Cardiovascular Diseases; Erythrocyte Indices Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable. GO:0002091;negative regulation of receptor internalization;IMP|GO:0006417;regulation of translation;NAS|GO:0010603;regulation of cytoplasmic mRNA processing body assembly;IBA|GO:0016070;RNA metabolic process;NAS|GO:0033962;cytoplasmic mRNA processing body assembly;IMP|GO:0034063;stress granule assembly;IMP|GO:0050658;RNA transport;NAS GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005844;polysome;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003723;RNA binding;IDA|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATXN2 https://hpo.jax.org/app/browse/search?q=ATXN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601517 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN2&submit=Quick%0D%17402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN2 rs2301622 0.535343 0.3636 0.3395 1 0 0 intronic intronic intronic ATXN2 ATXN2 ENSG00000204842 Na Na Na Na Na Na Het;C>G 863;49|37 Ref Hom;C>G 1682;0|60 N N - 12 111895272 111895272 C T snp intronic ATXN2 Atxn2 ENSG00000204842 ataxin 2 chr12:111890018-112037480 This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Blood Pressure; Cerebellar Ataxia|; Hematocrit; multiple sclerosis; spinocerebellar ataxia; Spinocerebellar Ataxias; Cholesterol; Cholesterol, LDL; Parkinson's disease; Celiac Disease; hypertension; Autoimmune Diseases; hematocrit; Retinal Vein; Chronic renal failure|Kidney Failure, Chronic; Cystatin C; Genomic Instability|Spinocerebellar Ataxias; Celiac disease; obesity; Diastolic blood pressure; restless legs syndrome; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Cardiovascular Diseases; Erythrocyte Indices Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable. GO:0002091;negative regulation of receptor internalization;IMP|GO:0006417;regulation of translation;NAS|GO:0010603;regulation of cytoplasmic mRNA processing body assembly;IBA|GO:0016070;RNA metabolic process;NAS|GO:0033962;cytoplasmic mRNA processing body assembly;IMP|GO:0034063;stress granule assembly;IMP|GO:0050658;RNA transport;NAS GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005844;polysome;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003723;RNA binding;IDA|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATXN2 https://hpo.jax.org/app/browse/search?q=ATXN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601517 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN2&submit=Quick%0D%17402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN2 rs2301621 0.234625 0 0 1 0 0 intronic intronic intronic ATXN2 ATXN2 ENSG00000204842 Na Na Na Na Na Na Het;C>T 266;12|11 Ref Hom;C>T 427;0|14 N N - 12 111989979 111989979 C A snp intronic ATXN2 Atxn2 ENSG00000204842 ataxin 2 chr12:111890018-112037480 This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Blood Pressure; Cerebellar Ataxia|; Hematocrit; multiple sclerosis; spinocerebellar ataxia; Spinocerebellar Ataxias; Cholesterol; Cholesterol, LDL; Parkinson's disease; Celiac Disease; hypertension; Autoimmune Diseases; hematocrit; Retinal Vein; Chronic renal failure|Kidney Failure, Chronic; Cystatin C; Genomic Instability|Spinocerebellar Ataxias; Celiac disease; obesity; Diastolic blood pressure; restless legs syndrome; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Cardiovascular Diseases; Erythrocyte Indices Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable. GO:0002091;negative regulation of receptor internalization;IMP|GO:0006417;regulation of translation;NAS|GO:0010603;regulation of cytoplasmic mRNA processing body assembly;IBA|GO:0016070;RNA metabolic process;NAS|GO:0033962;cytoplasmic mRNA processing body assembly;IMP|GO:0034063;stress granule assembly;IMP|GO:0050658;RNA transport;NAS GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005844;polysome;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003723;RNA binding;IDA|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATXN2 https://hpo.jax.org/app/browse/search?q=ATXN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601517 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN2&submit=Quick%0D%17402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN2 rs848132 0.234225 0 0 1 0 0 intronic intronic intronic ATXN2 ATXN2 ENSG00000204842 Na Na Na Na Na Na Het;C>A 335;11|12 Ref Hom;C>A 704;0|20 N N - 12 112106143 112106143 T A snp intronic BRAP Brap ENSG00000089234 BRCA1 associated protein chr12:112079950-112123790 The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] Atherosclerosis|Myocardial Infarction; Esophageal cancer; Alanine Transaminase Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis and subtle defects in cell cycle-dependent nuclear movement in neural progenitors. Paradoxical activation of RAF signaling by kinase inactive BRAF GO:0000165;MAPK cascade;TAS|GO:0007265;Ras protein signal transduction;IDA|GO:0009968;negative regulation of signal transduction;IDA|GO:0016567;protein ubiquitination;IDA GO:0000151;ubiquitin ligase complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031965;nuclear membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/BRAP https://www.uniprot.org/uniprot/Q7Z569 https://www.ncbi.nlm.nih.gov/omim/?term=604986 http://www.informatics.jax.org/searchtool/Search.do?query=BRAP&submit=Quick%0D%2057ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRAP rs6490268 0 0 0 1 0 0 intronic intronic intronic BRAP BRAP ENSG00000089234 Na Na Na Na Na Na Het;T>A 300;6|17 Het;T>A 154;1|5 Hom;T>A 340;0|11 N N - 12 112230036 112230036 G A snp intronic ALDH2 Aldh2 ENSG00000111275 aldehyde dehydrogenase 2 family (mitochondrial) chr12:112204691-112247782 This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011] Parkinson's disease; Hypertension|Obesity; Stomach Neoplasms; Esophageal Neoplasms; Alcoholic Liver Diseases|Alcoholism|Liver Diseases, Alcoholic; colorectal cancer; Carcinoma, Hepatocellular|Liver Neoplasms; Carcinoma, Squamous Cell|Cocarcinogenesis|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; alcohol abuse cirrhosis, alcoholic pancreatitis, chronic; cirrhosis, alcoholic; Asthma; Alcoholism|Bone necrosis|Liver Cirrhosis|Osteonecrosis|Pancreatitis, Alcoholic; Cocarcinogenesis|Esophageal Neoplasms|Oesophageal neoplasm; Occupational Diseases; esophageal cancer; oropharyngolaryngeal cancers; stomach cancer; diabetes, type 2; esophageal cancer ; Pancreatitis, Alcoholic|Pancreatitis, Chronic; alcohol consumption; Diabetes mellitus|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; alcohol abuse; liver disease, alcoholic; Alcoholic Intoxication|Wounds and Injuries; cirrhosis; pancreatitis; esophageal cancer; Flushing|Micronuclei, Chromosome-Defective; Intracranial Aneurysm; DNA Damage; Erythrocyte Indices; alcohol dependency; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; cholesterol gamma glutamyltranspeptidase triglycerides; chronic obstructive pulmonary disease; lung cancer; head and neck cancer; Coronary Disease|Coronary heart disease|Diabetes mellitus; Alcoholism|Carcinoma, Squamous Cell|Digestive System Neoplasms|Esophageal Neoplasms|Melanosis|Oesophageal neoplasm|Precancerous Conditions|Squamous cell carcinoma; Alcohol-Related Disorders; liver cancer risk in HCV antibody-positive; multiple oesophageal dysplasia; Esophageal Neoplasms|Oesophageal neoplasm; Coronary Artery Disease; Periodontal Pocket|Periodontitis; heart muscle disease, alcoholic; Alcohol-Related Disorders|Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Flushing|Oesophageal neoplasm|Squamous cell carcinoma; Drinking Behavior; alcohol abuse; smoking behavior; stomach cancer; Alcohol-related polyneuropathy|Alcoholic Neuropathy; Retinopathy of Prematurity; Type 2 diabetes; Adenomatous Polyps|Colonic Polyps|Rectal Neoplasms; stroke, lacunar; lung cancer ; alcohol; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; Alcoholism|Diseases in Twins|Flushing; prostate cancer; Liver Diseases; Coronary Disease|Coronary heart disease; alcohol abuse; Carcinoma, Squamous Cell|Esophageal Neoplasms; Alcoholism|Carcinoma, Squamous Cell|Esophageal Neoplasms|Laryngeal Neoplasms|Neoplasm Invasiveness|Oropharyngeal Neoplasms; cholesterol, HDL; blood pressure, arterial; acetaldehyde; lipid peroxide; medicamentosa-like dermatitis, trichloroethylene; personality; Periodontitis; Liver Cirrhosis; liver disease; alcoholism attention deficit hyperactivity disorder; acetaldehyde ethanol; drug-related genes ; Alcoholism|Esophageal Neoplasms|Oesophageal neoplasm; Alcoholism|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Micronuclei, Chromosome-Defective; Metabolic Syndrome X; elevated liver enzymes and metabolic syndrome; Esophageal Neoplasms|Flushing|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; Esophageal Neoplasms|Neoplasms, Second Primary|Oesophageal neoplasm; Angina Pectoris; non-smokers.; Colonic Neoplasms|Rectal Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Triglycerides; alcoholism; cytogenetic studies; bladder cancer; pancreatitis; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Flushing|Substance Withdrawal Syndrome; Alcoholism|; asthma; Hypertension; Adenoma|Colorectal Neoplasms; alcohol liver disease; myocardial infarct; alcoholism; Acquired Immunodeficiency Syndrome|Disease Progression; gastric disease; hypertension; Chronic renal failure|Kidney Failure, Chronic; Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Alcoholic Intoxication|Alcoholism; Pancreatitis, Alcoholic; Carcinoma, Squamous Cell|Esophageal Neoplasms|Flushing|Oesophageal neoplasm|Oropharyngeal Neoplasms|Squamous cell carcinoma|Tumor of Oropharynx; Alcoholism; Flushing|Hypersensitivity; blood pressure, arterial; heart rate; esophageal cancer; vinyl chloride ; Carcinoma, Squamous Cell|Mouth Neoplasms|Pharyngeal Neoplasms|Squamous cell carcinoma; Alcoholism|Flushing; null; Alcoholic Intoxication, Chronic|Drug Allergy; patent ductus arteriosus; suicide; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Liver Cirrhosis, Alcoholic; Myocardial Infarction; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; liver cirrhosis; Cardiovascular Diseases; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Diabetes Mellitus, Type 2; alcohol dependence; osteonecrosis; Alzheimer's disease; bone density; preterm delivery; Colonic Neoplasms|Neoplasms|pancreatic neoplasm|Pancreatic Neoplasms; breast cancer ; liver disease, alcoholic; breast cancer; gamma-Glutamyltransferase; hepatitis, acute alcoholic; Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Peptic Ulcer; Kidney Failure, Chronic; Head and Neck Neoplasms; atherosclerosis; Alcoholism|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Alzheimer's disease ; Flushing; Alcoholism|Unconscious State|Unconsciousness; Ectodermal Dysplasia|Esophageal Neoplasms|Neoplasms, Squamous Cell|Oesophageal neoplasm; cirrhosis; pancreatitis; Gastrointestinal Neoplasms|; Esophageal cancer; Genomic Instability|Mesothelioma|Pleural Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma Homozygous mutation of this gene results in the absence of oxidation activity in the mitochondria. Mice homozygous for a different allele exhibit decreased litter size. Ethanol oxidation GO:0005975;carbohydrate metabolic process;TAS|GO:0006066;alcohol metabolic process;TAS|GO:0006068;ethanol catabolic process;IEA|GO:0006069;ethanol oxidation;TAS|GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0004029;aldehyde dehydrogenase (NAD) activity;IDA|GO:0004030;aldehyde dehydrogenase [NAD(P)+] activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0051287;NAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ALDH2 https://www.uniprot.org/uniprot/P05091 https://hpo.jax.org/app/browse/search?q=ALDH2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=100650 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH2&submit=Quick%0D%4056ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH2 rs4646777 0.197684 0 0 1 0 0 intronic intronic intronic ALDH2 ALDH2 ENSG00000111275 Na Na Na Na Na Na Het;G>A 500;23|21 Ref Hom;G>A 970;0|25 N N - 12 112235783 112235783 C A snp intronic ALDH2 Aldh2 ENSG00000111275 aldehyde dehydrogenase 2 family (mitochondrial) chr12:112204691-112247782 This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011] Parkinson's disease; Hypertension|Obesity; Stomach Neoplasms; Esophageal Neoplasms; Alcoholic Liver Diseases|Alcoholism|Liver Diseases, Alcoholic; colorectal cancer; Carcinoma, Hepatocellular|Liver Neoplasms; Carcinoma, Squamous Cell|Cocarcinogenesis|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; alcohol abuse cirrhosis, alcoholic pancreatitis, chronic; cirrhosis, alcoholic; Asthma; Alcoholism|Bone necrosis|Liver Cirrhosis|Osteonecrosis|Pancreatitis, Alcoholic; Cocarcinogenesis|Esophageal Neoplasms|Oesophageal neoplasm; Occupational Diseases; esophageal cancer; oropharyngolaryngeal cancers; stomach cancer; diabetes, type 2; esophageal cancer ; Pancreatitis, Alcoholic|Pancreatitis, Chronic; alcohol consumption; Diabetes mellitus|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; alcohol abuse; liver disease, alcoholic; Alcoholic Intoxication|Wounds and Injuries; cirrhosis; pancreatitis; esophageal cancer; Flushing|Micronuclei, Chromosome-Defective; Intracranial Aneurysm; DNA Damage; Erythrocyte Indices; alcohol dependency; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; cholesterol gamma glutamyltranspeptidase triglycerides; chronic obstructive pulmonary disease; lung cancer; head and neck cancer; Coronary Disease|Coronary heart disease|Diabetes mellitus; Alcoholism|Carcinoma, Squamous Cell|Digestive System Neoplasms|Esophageal Neoplasms|Melanosis|Oesophageal neoplasm|Precancerous Conditions|Squamous cell carcinoma; Alcohol-Related Disorders; liver cancer risk in HCV antibody-positive; multiple oesophageal dysplasia; Esophageal Neoplasms|Oesophageal neoplasm; Coronary Artery Disease; Periodontal Pocket|Periodontitis; heart muscle disease, alcoholic; Alcohol-Related Disorders|Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Flushing|Oesophageal neoplasm|Squamous cell carcinoma; Drinking Behavior; alcohol abuse; smoking behavior; stomach cancer; Alcohol-related polyneuropathy|Alcoholic Neuropathy; Retinopathy of Prematurity; Type 2 diabetes; Adenomatous Polyps|Colonic Polyps|Rectal Neoplasms; stroke, lacunar; lung cancer ; alcohol; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; Alcoholism|Diseases in Twins|Flushing; prostate cancer; Liver Diseases; Coronary Disease|Coronary heart disease; alcohol abuse; Carcinoma, Squamous Cell|Esophageal Neoplasms; Alcoholism|Carcinoma, Squamous Cell|Esophageal Neoplasms|Laryngeal Neoplasms|Neoplasm Invasiveness|Oropharyngeal Neoplasms; cholesterol, HDL; blood pressure, arterial; acetaldehyde; lipid peroxide; medicamentosa-like dermatitis, trichloroethylene; personality; Periodontitis; Liver Cirrhosis; liver disease; alcoholism attention deficit hyperactivity disorder; acetaldehyde ethanol; drug-related genes ; Alcoholism|Esophageal Neoplasms|Oesophageal neoplasm; Alcoholism|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Micronuclei, Chromosome-Defective; Metabolic Syndrome X; elevated liver enzymes and metabolic syndrome; Esophageal Neoplasms|Flushing|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; Esophageal Neoplasms|Neoplasms, Second Primary|Oesophageal neoplasm; Angina Pectoris; non-smokers.; Colonic Neoplasms|Rectal Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Triglycerides; alcoholism; cytogenetic studies; bladder cancer; pancreatitis; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Flushing|Substance Withdrawal Syndrome; Alcoholism|; asthma; Hypertension; Adenoma|Colorectal Neoplasms; alcohol liver disease; myocardial infarct; alcoholism; Acquired Immunodeficiency Syndrome|Disease Progression; gastric disease; hypertension; Chronic renal failure|Kidney Failure, Chronic; Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Alcoholic Intoxication|Alcoholism; Pancreatitis, Alcoholic; Carcinoma, Squamous Cell|Esophageal Neoplasms|Flushing|Oesophageal neoplasm|Oropharyngeal Neoplasms|Squamous cell carcinoma|Tumor of Oropharynx; Alcoholism; Flushing|Hypersensitivity; blood pressure, arterial; heart rate; esophageal cancer; vinyl chloride ; Carcinoma, Squamous Cell|Mouth Neoplasms|Pharyngeal Neoplasms|Squamous cell carcinoma; Alcoholism|Flushing; null; Alcoholic Intoxication, Chronic|Drug Allergy; patent ductus arteriosus; suicide; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Liver Cirrhosis, Alcoholic; Myocardial Infarction; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; liver cirrhosis; Cardiovascular Diseases; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Diabetes Mellitus, Type 2; alcohol dependence; osteonecrosis; Alzheimer's disease; bone density; preterm delivery; Colonic Neoplasms|Neoplasms|pancreatic neoplasm|Pancreatic Neoplasms; breast cancer ; liver disease, alcoholic; breast cancer; gamma-Glutamyltransferase; hepatitis, acute alcoholic; Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Peptic Ulcer; Kidney Failure, Chronic; Head and Neck Neoplasms; atherosclerosis; Alcoholism|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Alzheimer's disease ; Flushing; Alcoholism|Unconscious State|Unconsciousness; Ectodermal Dysplasia|Esophageal Neoplasms|Neoplasms, Squamous Cell|Oesophageal neoplasm; cirrhosis; pancreatitis; Gastrointestinal Neoplasms|; Esophageal cancer; Genomic Instability|Mesothelioma|Pleural Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma Homozygous mutation of this gene results in the absence of oxidation activity in the mitochondria. Mice homozygous for a different allele exhibit decreased litter size. Ethanol oxidation GO:0005975;carbohydrate metabolic process;TAS|GO:0006066;alcohol metabolic process;TAS|GO:0006068;ethanol catabolic process;IEA|GO:0006069;ethanol oxidation;TAS|GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0004029;aldehyde dehydrogenase (NAD) activity;IDA|GO:0004030;aldehyde dehydrogenase [NAD(P)+] activity;TAS|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0051287;NAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ALDH2 https://www.uniprot.org/uniprot/P05091 https://hpo.jax.org/app/browse/search?q=ALDH2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=100650 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH2&submit=Quick%0D%4056ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH2 rs4646778 0.201278 0 0 1 0 0 intronic intronic intronic ALDH2 ALDH2 ENSG00000111275 Na Na Na Na Na Na Het;C>A 163;8|7 Ref Hom;C>A 210;0|7 N N - 12 112277576 112277576 C T snp ncRNA_exonic MAPKAPK5-AS1 rs3177647 0.224042 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MAPKAPK5-AS1 MAPKAPK5-AS1 ENSG00000234608,ENSG00000248594 Na Na Na Na Na Na Het;C>T 871;38|36 Ref Hom;C>T 1913;0|68 N N - 12 112278025 112278025 A G snp ncRNA_exonic MAPKAPK5-AS1 rs2879603 0.224042 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MAPKAPK5-AS1 MAPKAPK5-AS1 ENSG00000234608,ENSG00000248594 Na Na Na Na Na Na Het;A>G 2594;125|114 Ref Hom;A>G 6100;0|213 N N - 12 112280085 112280091 TGCTTCG T indel ncRNA_exonic MAPKAPK5-AS1 rs138511097 0.224042 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MAPKAPK5-AS1 MAPKAPK5-AS1 ENSG00000234608 Na Na Na Na Na Na Het;-GCTTCG 741;14|20 Ref Hom;-GCTTCG 1404;0|32 N N - 12 112280773 112280773 G T snp intronic MAPKAPK5 Mapkapk5 ENSG00000089022 mitogen-activated protein kinase-activated protein kinase 5 chr12:112279782-112334343 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] Homozygous mutant mice are viable, fertile, and show no overt abnormalities. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006417;regulation of translation;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007265;Ras protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090400;stress-induced premature senescence;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPKAPK5 https://www.uniprot.org/uniprot/Q8IW41 https://www.ncbi.nlm.nih.gov/omim/?term=606723 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKAPK5&submit=Quick%0D%2033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKAPK5 rs3213628 0.223642 0 0 1 0 0 intronic intronic intronic MAPKAPK5 MAPKAPK5 ENSG00000089022 Na Na Na Na Na Na Het;G>T 312;13|12 Ref Hom;G>T 767;0|25 N N - 12 112306495 112306495 G GT indel intronic MAPKAPK5 Mapkapk5 ENSG00000089022 mitogen-activated protein kinase-activated protein kinase 5 chr12:112279782-112334343 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] Homozygous mutant mice are viable, fertile, and show no overt abnormalities. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006417;regulation of translation;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007265;Ras protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090400;stress-induced premature senescence;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPKAPK5 https://www.uniprot.org/uniprot/Q8IW41 https://www.ncbi.nlm.nih.gov/omim/?term=606723 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKAPK5&submit=Quick%0D%2033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKAPK5 rs34689630 0.220048 0 0 1 0 0 intronic intronic intronic MAPKAPK5 MAPKAPK5 ENSG00000089022 Na Na Na Na Na Na Het;+T 211;17|11 Ref Hom;+T 567;0|19 N N - 12 112323582 112323582 A G snp intronic MAPKAPK5 Mapkapk5 ENSG00000089022 mitogen-activated protein kinase-activated protein kinase 5 chr12:112279782-112334343 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] Homozygous mutant mice are viable, fertile, and show no overt abnormalities. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006417;regulation of translation;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007265;Ras protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090400;stress-induced premature senescence;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPKAPK5 https://www.uniprot.org/uniprot/Q8IW41 https://www.ncbi.nlm.nih.gov/omim/?term=606723 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKAPK5&submit=Quick%0D%2033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKAPK5 rs1981517 0.224641 0 0 1 0 0 intronic intronic intronic MAPKAPK5 MAPKAPK5 ENSG00000089022 Na Na Na Na Na Na Het;A>G 343;11|12 Ref Hom;A>G 351;0|11 N N - 12 112326138 112326138 A G snp intronic MAPKAPK5 Mapkapk5 ENSG00000089022 mitogen-activated protein kinase-activated protein kinase 5 chr12:112279782-112334343 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] Homozygous mutant mice are viable, fertile, and show no overt abnormalities. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006417;regulation of translation;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007265;Ras protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090400;stress-induced premature senescence;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPKAPK5 https://www.uniprot.org/uniprot/Q8IW41 https://www.ncbi.nlm.nih.gov/omim/?term=606723 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKAPK5&submit=Quick%0D%2033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKAPK5 rs2269802 0.224641 0 0 1 0 0 intronic intronic intronic MAPKAPK5 MAPKAPK5 ENSG00000089022 Na Na Na Na Na Na Het;A>G 283;5|8 Ref Hom;A>G 107;0|3 N N - 12 112326145 112326145 T C snp intronic MAPKAPK5 Mapkapk5 ENSG00000089022 mitogen-activated protein kinase-activated protein kinase 5 chr12:112279782-112334343 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] Homozygous mutant mice are viable, fertile, and show no overt abnormalities. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006417;regulation of translation;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007265;Ras protein signal transduction;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090400;stress-induced premature senescence;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPKAPK5 https://www.uniprot.org/uniprot/Q8IW41 https://www.ncbi.nlm.nih.gov/omim/?term=606723 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKAPK5&submit=Quick%0D%2033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKAPK5 rs2269803 0.504593 0 0 1 0 0 intronic intronic intronic MAPKAPK5 MAPKAPK5 ENSG00000089022 Na Na Na Na Na Na Het;T>C 251;5|7 Ref Hom;T>C 107;0|3 N N - 12 112337362 112337362 C T snp ncRNA_exonic ADAM1A rs9971746 0.224441 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic ADAM1A ADAM1A(uc021rea.1:c.-280C>T) ENSG00000229186 Na Na Na Na Na Na Het;C>T 1263;97|53 Ref Hom;C>T 4360;0|146 N N - 12 112338539 112338539 T C snp nonsynonymous SNV T898C C300R polar,hydrophobic,neutral polar,hydrophilic,charged(+) ADAM1A rs3742000 0.503195 0 0.2535 1 0 0 ncRNA_exonic exonic ncRNA_exonic ADAM1A ADAM1A ENSG00000229186 Na nonsynonymous SNV Na Na ADAM1A:uc021rea.1:exon1:c.T898C:p.C300R, Na Het;T>C 1610;78|67 Ref Hom;T>C 3412;0|124 N N - 12 112338734 112338734 T TA indel frameshift substitution 1093_1093delinsTA ADAM1A rs3832867 0.224441 0 0.1820 1 0 0 ncRNA_exonic exonic ncRNA_exonic ADAM1A ADAM1A ENSG00000229186 Na frameshift substitution Na Na ADAM1A:uc021rea.1:exon1:c.1093_1093delinsTA, Na Het;+A 4398;144|143 Ref Hom;+A 10972;2|298 N N - 12 112339015 112339015 G A snp synonymous SNV G1374A L458L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAM1A rs12321677 0.224241 0 0.1821 1 0 0 ncRNA_exonic exonic ncRNA_exonic ADAM1A ADAM1A ENSG00000229186 Na synonymous SNV Na Na ADAM1A:uc021rea.1:exon1:c.G1374A:p.L458L, Na Het;G>A 1350;104|60 Ref Hom;G>A 4311;0|150 N N - 12 112375990 112375990 A C snp nonsynonymous SNV T340G C114G polar,hydrophobic,neutral aliphatic,neutral TMEM116 Tmem116 ENSG00000198270 transmembrane protein 116 chr12:112369086-112450970 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM116 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM116&submit=Quick%0D%16859ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM116 rs3752630 0.22484 0.2032 0.1842 0.15 2 13 exonic exonic exonic TMEM116 TMEM116 ENSG00000198270 nonsynonymous SNV nonsynonymous SNV unknown TMEM116:NM_138341:exon5:c.T64G:p.C22G,TMEM116:NM_001294314:exon8:c.T64G:p.C22G,TMEM116:NM_001193453:exon5:c.T235G:p.C79G,TMEM116:NM_001193531:exon6:c.T340G:p.C114G, TMEM116:uc001tti.2:exon6:c.T340G:p.C114G,TMEM116:uc001ttf.2:exon5:c.T64G:p.C22G,TMEM116:uc001ttc.2:exon8:c.T64G:p.C22G,TMEM116:uc001ttd.2:exon6:c.T340G:p.C114G,TMEM116:uc001tte.2:exon5:c.T235G:p.C79G, UNKNOWN Het;A>C 292;29|15 Ref Hom;A>C 2040;0|76 N N - 12 112376157 112376157 A G snp intronic TMEM116 Tmem116 ENSG00000198270 transmembrane protein 116 chr12:112369086-112450970 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM116 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM116&submit=Quick%0D%16859ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM116 rs3752631 0.224441 0 0 1 0 0 intronic intronic intronic TMEM116 TMEM116 ENSG00000198270 Na Na Na Na Na Na Het;A>G 113;2|4 Ref Hom;A>G 142;0|5 N N - 12 112429469 112429469 C G snp intronic TMEM116 Tmem116 ENSG00000198270 transmembrane protein 116 chr12:112369086-112450970 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM116 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM116&submit=Quick%0D%16859ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM116 rs12423126 0.226038 0 0 1 0 0 intronic intronic intronic TMEM116 TMEM116 ENSG00000198270 Na Na Na Na Na Na Het;C>G 403;11|12 Ref Hom;C>G 620;0|18 N N - 12 112431212 112431212 T C snp ncRNA_exonic SLC25A3P2 rs57646770 0.229034 0 0 1 0 0 intronic intronic ncRNA_exonic TMEM116 TMEM116 ENSG00000258373 Na Na Na Na Na Na Het;T>C 302;13|12 Ref Hom;T>C 648;0|21 N N - 12 112667675 112667675 T G snp synonymous SNV A5944C R1982R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) HECTD4 Gm15800 ENSG00000173064 HECT domain E3 ubiquitin protein ligase 4 chr12:112597992-112819896 gamma-Glutamyltransferase; Blood Pressure; Cholesterol, LDL; Cholesterol, HDL; Waist-Hip Ratio; Tobacco Use Disorder; Esophageal Neoplasms; Alcohol Drinking; Biomedical quantitative traits; Cholesterol; Alanine Transaminase; Aspartate Aminotransferases; Platelet Aggregation; Mortality GO:0016567;protein ubiquitination;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HECTD4 http://www.informatics.jax.org/searchtool/Search.do?query=HECTD4&submit=Quick%0D%13282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HECTD4 rs1005902 0.628195 0.4216 0.4421 1 0 0 exonic exonic exonic HECTD4 HECTD4 ENSG00000173064 synonymous SNV synonymous SNV unknown HECTD4:NM_001109662:exon41:c.A5944C:p.R1982R, HECTD4:uc021reb.1:exon41:c.A5944C:p.R1982R, UNKNOWN Het;T>G 220;12|10 Ref Hom;T>G 684;0|21 N N - 12 112843998 112843998 A T snp intronic RPL6 Rpl6l ENSG00000089009 ribosomal protein L6 chr12:112842994-112856642 This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002181;cytoplasmic translation;IBA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA GO:0003677;DNA binding;TAS|GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;TAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPL6 https://www.uniprot.org/uniprot/Q02878 https://www.ncbi.nlm.nih.gov/omim/?term=603703 http://www.informatics.jax.org/searchtool/Search.do?query=RPL6&submit=Quick%0D%2031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL6 rs2233861 0.509585 0 0 1 0 0 intronic intronic intronic RPL6 RPL6 ENSG00000089009 Na Na Na Na Na Na Het;A>T 428;29|17 Ref Hom;A>T 1132;0|37 N N - 12 112939853 112939853 C T snp intronic PTPN11 Ptpn11 ENSG00000179295 protein tyrosine phosphatase, non-receptor type 11 chr12:112856155-112947717 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016] Abnormalities, Multiple|Heart Defects, Congenital|LEOPARD Syndrome|Noonan Syndrome|Skin Abnormalities; Abnormalities, Multiple|Congenital Heart Defects|Craniofacial Abnormalities|Ectodermal Dysplasia|Heart Defects, Congenital|Noonan Syndrome|Syndrome|Turner's phenotype, karyotype normal; Lymphedema; Noonan syndrome; cognitive ability; Articulation Disorders|Dyslexia, Acquired|Language Disorders|Noonan Syndrome|Turner's phenotype, karyotype normal; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hematological parameters; Platelet Count; Cardiovascular Diseases; Arrhythmias, Cardiac|Hypertrophy, Left Ventricular|LEOPARD Syndrome; Pancreatic Neoplasms; leukemia; Noonan syndrome; type 1 diabetes; Celiac Disease|; patent ductus arteriosus; Addison Disease|; heart anomalies, congenital; Cleft Lip|Cleft Palate; Metaplasia|Stomach Neoplasms; stomach cancer; stomach atrophy; leukemia, lymphoid; gastric atrophy; Leukemia, Myelomonocytic, Juvenile; Neutrophils; gastric atrophy H. pylori infection; Attention Deficit Disorder with Hyperactivity; neurofibromatosis1; Noonan syndrome; Triglycerides; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carotid Arteries; Leukemia, Myelomonocytic, Chronic; Gastritis, Atrophic|Helicobacter Infections|Peptic Ulcer; Noonan Syndrome; Lipids; Noonan syndrome Noonan-like syndrome; plasma HDL cholesterol (HDL-C) levels; Hearing Loss|Noonan Syndrome; Colitis, Ulcerative|Crohn Disease|; Growth Disorders|Noonan Syndrome; esophageal adenocarcinoma; Glioma|Noonan Syndrome|Turner's phenotype, karyotype normal; Leukemia, Myeloid, Acute Homozygous null mutants exhibit abnormal mesoderm patterning leading to a failure of gastrulation and death by embryonic day 10.5. In heterozygous state the null mutant acts as a dominant enhancer of a mild epidermal growth factor receptor mutation. Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon GO:0000077;DNA damage checkpoint;IEA|GO:0000187;activation of MAPK activity;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007420;brain development;IMP|GO:0007507;heart development;IMP|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016311;dephosphorylation;IEA|GO:0021697;cerebellar cortex formation;IEA|GO:0030168;platelet activation;TAS|GO:0030220;platelet formation;IEA|GO:0031295;T cell costimulation;TAS|GO:0032528;microvillus organization;IEA|GO:0033277;abortive mitotic cell cycle;IEA|GO:0033628;regulation of cell adhesion mediated by integrin;IMP|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035265;organ growth;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035855;megakaryocyte development;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0036302;atrioventricular canal development;IMP|GO:0038127;ERBB signaling pathway;IDA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042445;hormone metabolic process;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043254;regulation of protein complex assembly;IDA|GO:0045931;positive regulation of mitotic cell cycle;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0046825;regulation of protein export from nucleus;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0046887;positive regulation of hormone secretion;IEA|GO:0046888;negative regulation of hormone secretion;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048609;multicellular organismal reproductive process;IEA|GO:0048806;genitalia development;IMP|GO:0048839;inner ear development;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050900;leukocyte migration;TAS|GO:0051463;negative regulation of cortisol secretion;IEA|GO:0060020;Bergmann glial cell differentiation;IEA|GO:0060125;negative regulation of growth hormone secretion;IEA|GO:0060325;face morphogenesis;IMP|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0061582;intestinal epithelial cell migration;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:2001275;positive regulation of glucose import in response to insulin stimulus;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IEA GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005070;SH3/SH2 adaptor activity;IPI|GO:0005158;insulin receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0031748;D1 dopamine receptor binding;IEA|GO:0043274;phospholipase binding;IEA|GO:0043560;insulin receptor substrate binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0050839;cell adhesion molecule binding;IEA|GO:0051428;peptide hormone receptor binding;IEA|GO:1990782;protein tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN11 https://hpo.jax.org/app/browse/search?q=PTPN11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176876 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN11&submit=Quick%0D%14321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN11 rs3741983 0.511781 0 0 1 0 0 intronic intronic intronic PTPN11 PTPN11 ENSG00000179295 Na Na Na Na Na Na Het;C>T 264;44|18 Ref Hom;C>T 1291;0|46 N N - 12 113313470 113313470 C T snp intronic RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs2891411 0.554912 0.4925 0.4449 1 0 0 intronic intronic intronic RPH3A RPH3A ENSG00000089169 Na Na Na Na Na Na Het;C>T 556;21|29 Het;C>T 566;31|30 Hom;C>T 2258;0|85 N N - 12 113319471 113319471 G A snp intronic RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs886476 0.566693 0 0 1 0 0 intronic intronic intronic RPH3A RPH3A ENSG00000089169 Na Na Na Na Na Na Het;G>A 228;12|8 Het;G>A 138;6|6 Hom;G>A 558;0|17 N N - 12 113319600 113319600 C T snp synonymous SNV C1263T N421N polar,hydrophilic,neutral polar,hydrophilic,neutral RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs2240194 0.568291 0.4958 0.4489 1 0 0 exonic exonic exonic RPH3A RPH3A ENSG00000089169 synonymous SNV synonymous SNV unknown RPH3A:NM_014954:exon14:c.C1263T:p.N421N,RPH3A:NM_001143854:exon15:c.C1275T:p.N425N, RPH3A:uc010sym.2:exon13:c.C1128T:p.N376N,RPH3A:uc010syl.2:exon15:c.C1275T:p.N425N,RPH3A:uc009zwe.1:exon13:c.C1263T:p.N421N,RPH3A:uc001ttz.3:exon15:c.C1275T:p.N425N,RPH3A:uc001tua.3:exon7:c.C555T:p.N185N,RPH3A:uc001tty.3:exon14:c.C1263T:p.N421N, UNKNOWN Het;C>T 985;74|50 Het;C>T 1187;39|52 Hom;C>T 2275;1|89 N N - 12 113320888 113320888 C G snp intronic RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs7963258 0.528554 0 0 1 0 0 intronic intronic intronic RPH3A RPH3A ENSG00000089169 Na Na Na Na Na Na Het;C>G 124;1|4 Ref Hom;C>G 143;0|4 N N - 12 113325629 113325629 T C snp synonymous SNV T1452C F484F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs4141253 0.521565 0.4306 0.4269 1 0 0 exonic exonic exonic RPH3A RPH3A ENSG00000089169 synonymous SNV synonymous SNV unknown RPH3A:NM_014954:exon16:c.T1452C:p.F484F,RPH3A:NM_001143854:exon17:c.T1464C:p.F488F, RPH3A:uc010sym.2:exon15:c.T1317C:p.F439F,RPH3A:uc010syl.2:exon17:c.T1464C:p.F488F,RPH3A:uc009zwe.1:exon15:c.T1452C:p.F484F,RPH3A:uc001ttz.3:exon17:c.T1464C:p.F488F,RPH3A:uc001tua.3:exon9:c.T744C:p.F248F,RPH3A:uc001tty.3:exon16:c.T1452C:p.F484F, UNKNOWN Het;T>C 285;8|13 Het;T>C 165;13|8 Hom;T>C 725;0|25 N N - 12 113334950 113334952 TAC T indel UTR3 *365_*367delinsT RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs10563429 0.378195 0 0 1 0 0 UTR3 UTR3 UTR3 RPH3A(NM_001143854:c.*365_*367delinsT,NM_014954:c.*365_*367delinsT) RPH3A(uc010syl.2:c.*365_*367delinsT,uc001ttz.3:c.*365_*367delinsT,uc001tty.3:c.*365_*367delinsT,uc010sym.2:c.*365_*367delinsT,uc001tua.3:c.*365_*367delinsT) ENSG00000089169(ENST00000389385:c.*365_*367delinsT,ENST00000447659:c.*365_*367delinsT,ENST00000551052:c.*365_*367delinsT,ENST00000415485:c.*365_*367delinsT,ENST00000548866:c.*365_*367delinsT,ENST00000420983:c.*365_*367delinsT) Na Na Na Na Na Na Het;-AC 2029;50|82 Het;-AC 1842;66|95 Hom;-AC 3426;0|113 N N - 12 113335425 113335425 A G snp UTR3 *840A>G RPH3A Rph3a ENSG00000089169 rabphilin 3A chr12:113008184-113336686 Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] Cholesterol, LDL; Albuminuria; Respiratory Function Tests; Neutrophils Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;IBA|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;ISS|GO:0030672;synaptic vesicle membrane;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0008289;lipid binding;IEA|GO:0008430;selenium binding;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0032403;protein complex binding;ISS|GO:0042301;phosphate ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070679;inositol 1,4,5 trisphosphate binding;ISS|GO:1901981;phosphatidylinositol phosphate binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RPH3A https://www.uniprot.org/uniprot/Q9Y2J0 https://www.ncbi.nlm.nih.gov/omim/?term=612159 http://www.informatics.jax.org/searchtool/Search.do?query=RPH3A&submit=Quick%0D%2051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPH3A rs12177 0.487021 0 0 1 0 0 UTR3 UTR3 UTR3 RPH3A(NM_001143854:c.*840A>G,NM_014954:c.*840A>G) RPH3A(uc010syl.2:c.*840A>G,uc001ttz.3:c.*840A>G,uc001tty.3:c.*840A>G,uc010sym.2:c.*840A>G,uc001tua.3:c.*840A>G) ENSG00000089169(ENST00000389385:c.*840A>G,ENST00000447659:c.*840A>G,ENST00000415485:c.*840A>G,ENST00000420983:c.*840A>G) Na Na Na Na Na Na Het;A>G 1542;32|57 Het;A>G 484;26|23 Hom;A>G 1331;0|51 N N - 12 113345167 113345167 A C snp intronic OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs7956880 0.888978 0 0 1 0 0 intronic intronic intronic OAS1 OAS1 ENSG00000089127 Na Na Na Na Na Na Het;A>C 433;10|14 Het;A>C 327;8|10 Hom;A>C 352;0|9 N N - 12 113348870 113348870 G A snp nonsynonymous SNV G484A G162S aliphatic,neutral polar,hydrophilic,neutral OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs1131454 0.473842 0.4574 0.5628 0.08 1 13 exonic exonic exonic OAS1 OAS1 ENSG00000089127 nonsynonymous SNV nonsynonymous SNV unknown OAS1:NM_002534:exon3:c.G484A:p.G162S,OAS1:NM_001032409:exon3:c.G484A:p.G162S,OAS1:NM_016816:exon3:c.G484A:p.G162S, OAS1:uc001tuc.3:exon3:c.G484A:p.G162S,OAS1:uc009zwf.3:exon3:c.G481A:p.G161S,OAS1:uc001tub.3:exon3:c.G484A:p.G162S,OAS1:uc001tud.3:exon3:c.G484A:p.G162S,OAS1:uc010syn.2:exon3:c.G481A:p.G161S, UNKNOWN Het;G>A 604;26|27 Ref Hom;G>A 2312;0|82 N N - 12 113357193 113357193 G A snp splicing 1039-1G>A OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs10774671 0.614417 0.5695 0.6685 0.25 1 4 splicing splicing splicing OAS1(NM_016816:exon6:c.1039-1G>A) OAS1(uc001tud.3:exon6:c.1039-1G>A) ENSG00000089127(ENST00000202917:exon6:c.1039-1G>A) Na Na Na Na Na Na Het;G>A 538;48|26 Ref Hom;G>A 1572;0|52 N N - 12 113357209 113357209 G A snp nonsynonymous SNV G1054A A352T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs1131476 0.78774 0.7398 0.7177 0.08 1 12 exonic exonic exonic OAS1 OAS1 ENSG00000089127 nonsynonymous SNV nonsynonymous SNV unknown OAS1:NM_016816:exon6:c.G1054A:p.A352T, OAS1:uc001tud.3:exon6:c.G1054A:p.A352T, UNKNOWN Het;G>A 674;53|32 Ref Hom;G>A 1922;0|68 N N - 12 113357237 113357237 G C snp nonsynonymous SNV G1082C R361T polar,hydrophilic,charged(+) polar,hydrophilic,neutral OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs1051042 0.787141 0.7397 0.7156 0.08 1 12 exonic exonic exonic OAS1 OAS1 ENSG00000089127 nonsynonymous SNV nonsynonymous SNV unknown OAS1:NM_016816:exon6:c.G1082C:p.R361T, OAS1:uc001tud.3:exon6:c.G1082C:p.R361T, UNKNOWN Het;G>C 950;77|46 Ref Hom;G>C 2989;0|106 N N - 12 113357442 113357442 G A snp nonsynonymous SNV G1189A G397R aliphatic,neutral polar,hydrophilic,charged(+) OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs2660 0.78774 0.7398 0.7334 0.08 1 12 exonic exonic exonic OAS1 OAS1 ENSG00000089127 nonsynonymous SNV nonsynonymous SNV unknown OAS1:NM_001032409:exon6:c.G1189A:p.G397R, OAS1:uc001tuc.3:exon6:c.G1189A:p.G397R, UNKNOWN Het;G>A 849;53|35 Ref Hom;G>A 2392;0|82 N N - 12 113369644 113369644 C T snp ncRNA_intronic AC004551.1 rs7968145 0.978834 0 0.9484 1 0 0 intergenic intronic ncRNA_intronic OAS1(dist=11932),OAS3(dist=6594) OAS1 ENSG00000257452 Na Na Na Na Na Na Het;C>T 334;18|15 Het;C>T 519;13|25 Hom;C>T 627;0|23 N N - 12 113369715 113369716 TA T indel frameshift substitution 1068_1069T OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs11352835 0.783347 0 0.6795 1 0 0 intergenic exonic exonic OAS1(dist=12003),OAS3(dist=6522) OAS1 ENSG00000089127 Na frameshift substitution unknown Na OAS1:uc009zwf.3:exon6:c.1068_1069T, UNKNOWN Het;-A 1078;40|33 Ref Hom;-A 2462;0|62 N N - 12 113369759 113369759 G C snp UTR3 *32G>C OAS1 Oas1g ENSG00000089127 2'-5'-oligoadenylate synthetase 1 chr12:113344582-113369990 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016] West Nile Fever; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis C, Chronic|Liver Cirrhosis; hepatitis C; multiple sclerosis; diabetes, type 1; ovarian cancer; gamma-Glutamyltransferase; hepatitis B; Dengue Hemorrhagic Fever; severe acute respiratory syndrome; type 1 diabetes; Hepatitis B, Chronic Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0042593;glucose homeostasis;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS1 https://www.uniprot.org/uniprot/P00973 https://hpo.jax.org/app/browse/search?q=OAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS1&submit=Quick%0D%2046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS1 rs7967461 0.783347 0 0.6756 1 0 0 intergenic UTR3 ncRNA_intronic OAS1(dist=12047),OAS3(dist=6479) OAS1(uc009zwf.3:c.*32G>C) ENSG00000257452 Na Na Na Na Na Na Het;G>C 504;37|29 Ref Hom;G>C 1272;0|50 N N - 12 113376320 113376320 C T snp UTR5 -16C>T OAS3 Oas3 ENSG00000111331 2'-5'-oligoadenylate synthetase 3 chr12:113376157-113411054 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] ovarian cancer; Hepatitis B, Chronic; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Alcohol Drinking; Dengue Hemorrhagic Fever; hepatitis B; Cholesterol, HDL; Multiple Sclerosis, Relapsing-Remitting; diabetes, type 1 Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060700;regulation of ribonuclease activity;IDA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;TAS GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS3 https://www.uniprot.org/uniprot/Q9Y6K5 https://www.ncbi.nlm.nih.gov/omim/?term=603351 http://www.informatics.jax.org/searchtool/Search.do?query=OAS3&submit=Quick%0D%4064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS3 rs3815178 0.786342 0.7567 0.7144 1 0 0 UTR5 UTR5 ncRNA_intronic OAS3(NM_006187:c.-16C>T) OAS3(uc001tue.3:c.-16C>T,uc001tuf.3:c.-16C>T,uc001tug.3:c.-16C>T) ENSG00000257452 Na Na Na Na Na Na Het;C>T 91;5|5 Ref Hom;C>T 209;0|9 N N - 12 113376331 113376331 C A snp UTR5 -5C>A OAS3 Oas3 ENSG00000111331 2'-5'-oligoadenylate synthetase 3 chr12:113376157-113411054 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] ovarian cancer; Hepatitis B, Chronic; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Alcohol Drinking; Dengue Hemorrhagic Fever; hepatitis B; Cholesterol, HDL; Multiple Sclerosis, Relapsing-Remitting; diabetes, type 1 Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060700;regulation of ribonuclease activity;IDA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;TAS GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS3 https://www.uniprot.org/uniprot/Q9Y6K5 https://www.ncbi.nlm.nih.gov/omim/?term=603351 http://www.informatics.jax.org/searchtool/Search.do?query=OAS3&submit=Quick%0D%4064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS3 rs1859331 0.66274 0.6476 0.6848 1 0 0 UTR5 UTR5 ncRNA_intronic OAS3(NM_006187:c.-5C>A) OAS3(uc001tue.3:c.-5C>A,uc001tuf.3:c.-5C>A,uc001tug.3:c.-5C>A) ENSG00000257452 Na Na Na Na Na Na Het;C>A 135;5|7 Ref Hom;C>A 209;0|9 N N - 12 113376388 113376388 G A snp nonsynonymous SNV G53A R18K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) OAS3 Oas3 ENSG00000111331 2'-5'-oligoadenylate synthetase 3 chr12:113376157-113411054 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] ovarian cancer; Hepatitis B, Chronic; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Alcohol Drinking; Dengue Hemorrhagic Fever; hepatitis B; Cholesterol, HDL; Multiple Sclerosis, Relapsing-Remitting; diabetes, type 1 Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060700;regulation of ribonuclease activity;IDA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;TAS GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS3 https://www.uniprot.org/uniprot/Q9Y6K5 https://www.ncbi.nlm.nih.gov/omim/?term=603351 http://www.informatics.jax.org/searchtool/Search.do?query=OAS3&submit=Quick%0D%4064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS3 rs1859330 0.663139 0.6225 0.6862 0.08 1 12 exonic exonic exonic OAS3 OAS3 ENSG00000111331 nonsynonymous SNV nonsynonymous SNV unknown OAS3:NM_006187:exon1:c.G53A:p.R18K, OAS3:uc001tue.3:exon1:c.G53A:p.R18K,OAS3:uc001tuf.3:exon1:c.G53A:p.R18K,OAS3:uc001tug.3:exon1:c.G53A:p.R18K, UNKNOWN Het;G>A 308;5|13 Ref Hom;G>A 462;0|20 N N - 12 113376452 113376452 C T snp synonymous SNV C117T A39A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OAS3 Oas3 ENSG00000111331 2'-5'-oligoadenylate synthetase 3 chr12:113376157-113411054 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] ovarian cancer; Hepatitis B, Chronic; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Alcohol Drinking; Dengue Hemorrhagic Fever; hepatitis B; Cholesterol, HDL; Multiple Sclerosis, Relapsing-Remitting; diabetes, type 1 Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060700;regulation of ribonuclease activity;IDA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;TAS GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS3 https://www.uniprot.org/uniprot/Q9Y6K5 https://www.ncbi.nlm.nih.gov/omim/?term=603351 http://www.informatics.jax.org/searchtool/Search.do?query=OAS3&submit=Quick%0D%4064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS3 rs1859329 0.786142 0.7384 0.7253 1 0 0 exonic exonic exonic OAS3 OAS3 ENSG00000111331 synonymous SNV synonymous SNV unknown OAS3:NM_006187:exon1:c.C117T:p.A39A, OAS3:uc001tue.3:exon1:c.C117T:p.A39A,OAS3:uc001tuf.3:exon1:c.C117T:p.A39A,OAS3:uc001tug.3:exon1:c.C117T:p.A39A, UNKNOWN Het;C>T 497;15|21 Ref Hom;C>T 787;0|31 N N - 12 113376543 113376543 C CCAAAGGG indel ncRNA_intronic AC004551.1 rs3038120 0.785144 0.6848 0.6688 1 0 0 intronic intronic ncRNA_intronic OAS3 OAS3 ENSG00000257452 Na Na Na Na Na Na Het;+CAAAGGG 473;12|13 Ref Hom;+CAAAGGG 572;0|14 N N - 12 113386950 113386950 T C snp synonymous SNV T1314C I438I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OAS3 Oas3 ENSG00000111331 2'-5'-oligoadenylate synthetase 3 chr12:113376157-113411054 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] ovarian cancer; Hepatitis B, Chronic; Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Alcohol Drinking; Dengue Hemorrhagic Fever; hepatitis B; Cholesterol, HDL; Multiple Sclerosis, Relapsing-Remitting; diabetes, type 1 Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006955;immune response;IEA|GO:0009615;response to virus;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060700;regulation of ribonuclease activity;IDA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;TAS GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS3 https://www.uniprot.org/uniprot/Q9Y6K5 https://www.ncbi.nlm.nih.gov/omim/?term=603351 http://www.informatics.jax.org/searchtool/Search.do?query=OAS3&submit=Quick%0D%4064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS3 rs2285932 0.842452 0.7680 0.7580 1 0 0 exonic exonic exonic OAS3 OAS3 ENSG00000111331 synonymous SNV synonymous SNV unknown OAS3:NM_006187:exon6:c.T1314C:p.I438I, OAS3:uc001tug.3:exon6:c.T1314C:p.I438I, UNKNOWN Het;T>C 1900;95|86 Ref Hom;T>C 4076;2|147 N N - 12 113402297 113402297 C T snp ncRNA_intronic AC004551.1 rs11066461 0.194688 0 0 1 0 0 intronic intronic ncRNA_intronic OAS3 OAS3 ENSG00000257452 Na Na Na Na Na Na Het;C>T 625;41|31 Ref Hom;C>T 1562;1|56 N N - 12 113405181 113405181 A C snp ncRNA_intronic AC004551.1 rs1557866 0.842452 0.7650 0.7691 1 0 0 intronic intronic ncRNA_intronic OAS3 OAS3 ENSG00000257452 Na Na Na Na Na Na Het;A>C 962;33|40 Ref Hom;A>C 1354;0|49 N N - 12 113425154 113425154 C G snp nonsynonymous SNV C489G S163R polar,hydrophilic,neutral polar,hydrophilic,charged(+) OAS2 Oas2 ENSG00000111335 2'-5'-oligoadenylate synthetase 2 chr12:113416200-113449528 This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis B, Chronic; Dengue Hemorrhagic Fever; diabetes, type 1; hepatitis B In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006401;RNA catabolic process;IEA|GO:0006486;protein glycosylation;IDA|GO:0006955;immune response;IEA|GO:0009615;response to virus;TAS|GO:0018377;protein myristoylation;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS2 https://www.uniprot.org/uniprot/P29728 https://www.ncbi.nlm.nih.gov/omim/?term=603350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS2&submit=Quick%0D%4065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS2 rs1293767 0.853435 0.7701 0.7738 0.09 1 11 exonic exonic exonic OAS2 OAS2 ENSG00000111335 nonsynonymous SNV nonsynonymous SNV unknown OAS2:NM_001032731:exon2:c.C489G:p.S163R, OAS2:uc001tuh.3:exon2:c.C489G:p.S163R, UNKNOWN Het;C>G 1182;45|49 Ref Hom;C>G 2298;0|85 N N - 12 113435293 113435293 C A snp ncRNA_intronic AC004551.1 rs1293756 0.877596 0.7724 0.7808 1 0 0 intronic intronic ncRNA_intronic OAS2 OAS2 ENSG00000257452 Na Na Na Na Na Na Het;C>A 679;28|27 Ref Hom;C>A 1369;0|47 N N - 12 113435450 113435450 A T snp synonymous SNV A753T V251V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OAS2 Oas2 ENSG00000111335 2'-5'-oligoadenylate synthetase 2 chr12:113416200-113449528 This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis B, Chronic; Dengue Hemorrhagic Fever; diabetes, type 1; hepatitis B In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006401;RNA catabolic process;IEA|GO:0006486;protein glycosylation;IDA|GO:0006955;immune response;IEA|GO:0009615;response to virus;TAS|GO:0018377;protein myristoylation;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS2 https://www.uniprot.org/uniprot/P29728 https://www.ncbi.nlm.nih.gov/omim/?term=603350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS2&submit=Quick%0D%4065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS2 rs1293755 0.877596 0.7726 0.7789 1 0 0 exonic exonic exonic OAS2 OAS2 ENSG00000111335 synonymous SNV synonymous SNV unknown OAS2:NM_016817:exon4:c.A753T:p.V251V,OAS2:NM_002535:exon4:c.A753T:p.V251V, OAS2:uc001tui.1:exon4:c.A753T:p.V251V,OAS2:uc001tuj.3:exon4:c.A753T:p.V251V, UNKNOWN Het;A>T 2116;118|97 Ref Hom;A>T 5523;0|199 N N - 12 113444418 113444418 T C snp ncRNA_intronic AC004551.1 rs929291 0.782149 0.6988 0.7498 1 0 0 intronic intronic ncRNA_intronic OAS2 OAS2 ENSG00000257452 Na Na Na Na Na Na Het;T>C 802;24|37 Ref Hom;T>C 1844;0|66 N N - 12 113448288 113448288 A G snp stoploss A2159G X720W aromatic,hydrophobic,neutral OAS2 Oas2 ENSG00000111335 2'-5'-oligoadenylate synthetase 2 chr12:113416200-113449528 This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis B, Chronic; Dengue Hemorrhagic Fever; diabetes, type 1; hepatitis B In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006401;RNA catabolic process;IEA|GO:0006486;protein glycosylation;IDA|GO:0006955;immune response;IEA|GO:0009615;response to virus;TAS|GO:0018377;protein myristoylation;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS2 https://www.uniprot.org/uniprot/P29728 https://www.ncbi.nlm.nih.gov/omim/?term=603350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS2&submit=Quick%0D%4065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS2 rs15895 0.864417 0.7497 0.7536 0.25 1 4 exonic exonic exonic OAS2 OAS2 ENSG00000111335 stoploss stoploss unknown OAS2:NM_016817:exon11:c.A2159G:p.X720W, OAS2:uc001tuj.3:exon11:c.A2159G:p.X720W, UNKNOWN Het;A>G 1114;48|52 Ref Hom;A>G 2169;0|80 N N - 12 113473446 113473446 A G snp intergenic OAS2 Oas2 ENSG00000111335 2'-5'-oligoadenylate synthetase 2 chr12:113416200-113449528 This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Encephalitis, Tick-Borne|Tick-Borne Encephalitis; Hepatitis B, Chronic; Dengue Hemorrhagic Fever; diabetes, type 1; hepatitis B In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006401;RNA catabolic process;IEA|GO:0006486;protein glycosylation;IDA|GO:0006955;immune response;IEA|GO:0009615;response to virus;TAS|GO:0018377;protein myristoylation;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0001730;2'-5'-oligoadenylate synthetase activity;IDA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OAS2 https://www.uniprot.org/uniprot/P29728 https://www.ncbi.nlm.nih.gov/omim/?term=603350 http://www.informatics.jax.org/searchtool/Search.do?query=OAS2&submit=Quick%0D%4065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OAS2 rs1293738 0.846645 0 0 1 0 0 intergenic intergenic intergenic OAS2(dist=23918),DTX1(dist=22216) OAS2(dist=23918),DTX1(dist=22216) ENSG00000257452(dist=17890),ENSG00000242461(dist=18421) Na Na Na Na Na Na Het;A>G 51;3|4 Ref Hom;A>G 297;0|12 N N - 12 114018443 114018443 C A snp intergenic LHX5-AS1 rs1426446 0.632588 0 0 1 0 0 intergenic intergenic intergenic LHX5-AS1(dist=100157),LINC01234(dist=163939) LHX5(dist=108566),AK096932(dist=163939) ENSG00000257935(dist=100014),ENSG00000238487(dist=22153) Na Na Na Na Na Na Het;C>A 118;13|5 Het;C>A 264;7|10 Hom;C>A 721;0|19 N N - 12 114453836 114453836 G A snp intergenic RBM19 Rbm19 ENSG00000122965 RNA binding motif protein 19 chr12:114254543-114404176 This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009] Tobacco Use Disorder; Celiac Disease|; Body Weight; Insulin Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5. GO:0007275;multicellular organism development;IEA|GO:0040019;positive regulation of embryonic development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RBM19 https://www.uniprot.org/uniprot/Q9Y4C8 https://www.ncbi.nlm.nih.gov/omim/?term=616444 http://www.informatics.jax.org/searchtool/Search.do?query=RBM19&submit=Quick%0D%5472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM19 rs1458705 0.765974 0 0 1 0 0 intergenic intergenic intergenic RBM19(dist=49660),TBX5(dist=337899) RBM19(dist=49660),TBX5(dist=337899) ENSG00000122965(dist=49660),ENSG00000257603(dist=61102) Na Na Na Na Na Na Het;G>A 78;1|3 Ref Hom;G>A 200;0|6 N N - 12 114848445 114848445 T C snp ncRNA_exonic TBX5-AS1 rs55727648 0.164537 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic TBX5-AS1 TBX5-AS1 ENSG00000255399 Na Na Na Na Na Na Het;T>C 1558;56|58 Ref Hom;T>C 3976;0|135 N N - 12 115026041 115026041 A C snp ncRNA_exonic AC069240.2 rs1650060 0.720048 0 0 1 0 0 intergenic intergenic ncRNA_exonic TBX5-AS1(dist=175404),TBX3(dist=82018) 7SK(dist=82350),TBX3(dist=82018) ENSG00000258244 Na Na Na Na Na Na Het;A>C 498;8|15 Het;A>C 266;8|9 Hom;A>C 738;0|19 N N - 12 115171854 115171854 T C snp ncRNA_intronic AC026765.2 rs10774766 0.562101 0 0 1 0 0 intergenic intergenic ncRNA_intronic TBX3(dist=49885),MED13L(dist=1224527) TBX3(dist=49885),Metazoa_SRP(dist=983669) ENSG00000257817 Na Na Na Na Na Na Het;T>C 162;1|6 Het;T>C 83;2|4 Hom;T>C 173;0|5 N N - 12 115367657 115367657 T C snp intergenic TBX3 Tbx3 ENSG00000135111 T-box 3 chr12:115108059-115121969 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] Electrocardiography; Peroxidase; Body Height; PR interval; Colorectal Neoplasms; Eosinophils; Type 2 Diabetes| edema | rosiglitazone; Stroke; hypertension; Schizophrenia; Hip; Bone Mineral Density; Leukocyte Count; Heart Function Tests; Alzheimer Disease; Diastolic blood pressure; Tyrosine; Hemoglobins; Blood Pressure Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IMP|GO:0001568;blood vessel development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003167;atrioventricular bundle cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007569;cell aging;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008595;anterior/posterior axis specification, embryo;IMP|GO:0009887;animal organ morphogenesis;IDA|GO:0010159;specification of animal organ position;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0021761;limbic system development;IEA|GO:0030539;male genitalia development;IMP|GO:0030540;female genitalia development;IMP|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030879;mammary gland development;IMP|GO:0032275;luteinizing hormone secretion;IMP|GO:0035050;embryonic heart tube development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035136;forelimb morphogenesis;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042733;embryonic digit morphogenesis;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045787;positive regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046884;follicle-stimulating hormone secretion;IMP|GO:0048332;mesoderm morphogenesis;IMP|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0060021;palate development;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060596;mammary placode formation;IEA|GO:0060923;cardiac muscle cell fate commitment;IEA|GO:0060931;sinoatrial node cell development;IEA|GO:0090398;cellular senescence;IDA|GO:2000648;positive regulation of stem cell proliferation;IEA GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBX3 https://www.uniprot.org/uniprot/O15119 https://hpo.jax.org/app/browse/search?q=TBX3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601621 http://www.informatics.jax.org/searchtool/Search.do?query=TBX3&submit=Quick%0D%7089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX3 rs2384555 0.622604 0 0 1 0 0 intergenic intergenic intergenic TBX3(dist=245688),MED13L(dist=1028724) TBX3(dist=245688),Metazoa_SRP(dist=787866) ENSG00000257517(dist=158001),ENSG00000257958(dist=147473) Na Na Na Na Na Na Het;T>C 77;3|4 Ref Hom;T>C 161;0|7 N N - 12 115371958 115371958 T C snp intergenic TBX3 Tbx3 ENSG00000135111 T-box 3 chr12:115108059-115121969 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] Electrocardiography; Peroxidase; Body Height; PR interval; Colorectal Neoplasms; Eosinophils; Type 2 Diabetes| edema | rosiglitazone; Stroke; hypertension; Schizophrenia; Hip; Bone Mineral Density; Leukocyte Count; Heart Function Tests; Alzheimer Disease; Diastolic blood pressure; Tyrosine; Hemoglobins; Blood Pressure Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IMP|GO:0001568;blood vessel development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003167;atrioventricular bundle cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007569;cell aging;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008595;anterior/posterior axis specification, embryo;IMP|GO:0009887;animal organ morphogenesis;IDA|GO:0010159;specification of animal organ position;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0021761;limbic system development;IEA|GO:0030539;male genitalia development;IMP|GO:0030540;female genitalia development;IMP|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030879;mammary gland development;IMP|GO:0032275;luteinizing hormone secretion;IMP|GO:0035050;embryonic heart tube development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035136;forelimb morphogenesis;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042733;embryonic digit morphogenesis;IMP|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045787;positive regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046884;follicle-stimulating hormone secretion;IMP|GO:0048332;mesoderm morphogenesis;IMP|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0060021;palate development;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060596;mammary placode formation;IEA|GO:0060923;cardiac muscle cell fate commitment;IEA|GO:0060931;sinoatrial node cell development;IEA|GO:0090398;cellular senescence;IDA|GO:2000648;positive regulation of stem cell proliferation;IEA GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBX3 https://www.uniprot.org/uniprot/O15119 https://hpo.jax.org/app/browse/search?q=TBX3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601621 http://www.informatics.jax.org/searchtool/Search.do?query=TBX3&submit=Quick%0D%7089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX3 rs7966651 0.622804 0 0 1 0 0 intergenic intergenic intergenic TBX3(dist=249989),MED13L(dist=1024423) TBX3(dist=249989),Metazoa_SRP(dist=783565) ENSG00000257517(dist=162302),ENSG00000257958(dist=143172) Na Na Na Na Na Na Het;T>C 380;14|17 Ref Hom;T>C 1040;0|36 N N - 12 117243743 117243743 A G snp intronic RNFT2 Rnft2 ENSG00000135119 ring finger protein, transmembrane 2 chr12:117176096-117291436 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNFT2 https://www.uniprot.org/uniprot/Q96EX2 http://www.informatics.jax.org/searchtool/Search.do?query=RNFT2&submit=Quick%0D%7092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNFT2 rs1495933 0.786741 0 0 1 0 0 intronic intronic intronic RNFT2 RNFT2 ENSG00000135119 Na Na Na Na Na Na Het;A>G 169;3|6 Ref Hom;A>G 132;0|5 N N - 12 117290601 117290601 T C snp ncRNA_exonic UNQ514 rs903772 0.822684 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 RNFT2(NM_032814:c.*84T>C,NM_001109903:c.*495T>C) UNQ514 ENSG00000135119(ENST00000392549:c.*495T>C,ENST00000407967:c.*84T>C,ENST00000319176:c.*852T>C,ENST00000547718:c.*1304T>C) Na Na Na Na Na Na Het;T>C 172;15|9 Het;T>C 135;15|9 Hom;T>C 473;0|17 N N - 12 117579274 117579274 T C snp ncRNA_exonic TESC-AS1 rs884282 0.421725 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic TESC-AS1 TESC(dist=42023),FBXO21(dist=2311) ENSG00000258285 Na Na Na Na Na Na Het;T>C 695;47|36 Het;T>C 782;41|40 Hom;T>C 1969;0|76 N N - 12 117595978 117595978 A C snp intronic FBXO21 Fbxo21 ENSG00000135108 F-box protein 21 chr12:117581146-117628336 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/FBXO21 https://www.uniprot.org/uniprot/O94952 https://www.ncbi.nlm.nih.gov/omim/?term=609095 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO21&submit=Quick%0D%7088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO21 rs2279766 0.570088 0 0 1 0 0 intronic intronic intronic FBXO21 FBXO21 ENSG00000135108 Na Na Na Na Na Na Het;A>C 106;9|4 Het;A>C 164;4|5 Hom;A>C 227;0|7 N N - 12 117681353 117681353 A ACCAT indel intronic NOS1 Nos1 ENSG00000089250 nitric oxide synthase 1 chr12:117645947-117889975 The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011] asthma IgE; oxidative stress ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; melanoma; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; ulcerative colitis; slow transit constipation; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; enuresis, primary nocturnal; Brain Neoplasms|Occupational Diseases; Meningeal Neoplasms|meningioma; asthma; cognitive trait; EO; multiple sclerosis; Marijuana Abuse|Psychoses, Substance-Induced; Coronary Disease|Coronary heart disease; atopy; mood disorders; nitric oxide, exhaled; neuronal NO synthase (NOS1) gene polymorphism; NO exhalation; impulsiveness, venturesomeness and empathy; smoking behavior; Asthma. DRS. eosinophilia; Alzheimer's disease; Multiple Sclerosis; Restless Legs Syndrome; infantile hypertrophic pyloric stenosis.; Bipolar Disorder; Tobacco Use Disorder; Asthma. total IgE. SPT; schizophrenia; acute chest syndrome asthma; Autism; nitric oxide; Parkinson's disease; Schizophrenia; HIV; schizophrenia; bipolar disorder; cystic fibrosis; tIgE; Alcoholism; diabetic neuropathy; hypertension; suicide; Pyloric Stenosis, Hypertrophic; depressive disorder, major; tardive dyskinesia; Asthma; null; several psychiatric disorders; achalasia; Alzheimer's Disease; major depression; Lymphoma, Non-Hodgkin; migraine; migraine with aura; sickle cell disease; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Spinal Dysraphism; Nephrosis, Lipoid; diabetes, type 2; breast cancer ; Malaria; respiratory syncytial virus bronchiolitis; Type 2 Diabetes| edema | rosiglitazone; Asthma. DRS. total IgE; Parkinson's Disease; schizophrenia; schizoaffective disorder; bipolar disorder; Parkinson's disease ; beta-Thalassemia; cluster headache; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Aging/ Telomere Length Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain. Ion homeostasis GO:0001666;response to hypoxia;IEP|GO:0002028;regulation of sodium ion transport;ISS|GO:0006527;arginine catabolic process;IC|GO:0006809;nitric oxide biosynthetic process;ISS|GO:0006941;striated muscle contraction;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0007520;myoblast fusion;TAS|GO:0009408;response to heat;IDA|GO:0010523;negative regulation of calcium ion transport into cytosol;TAS|GO:0018119;peptidyl-cysteine S-nitrosylation;ISS|GO:0031284;positive regulation of guanylate cyclase activity;IBA|GO:0033555;multicellular organismal response to stress;IMP|GO:0035066;positive regulation of histone acetylation;ISS|GO:0042136;neurotransmitter biosynthetic process;TAS|GO:0042311;vasodilation;IDA|GO:0042738;exogenous drug catabolic process;ISS|GO:0043267;negative regulation of potassium ion transport;ISS|GO:0045454;cell redox homeostasis;TAS|GO:0045776;negative regulation of blood pressure;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050767;regulation of neurogenesis;IEA|GO:0051346;negative regulation of hydrolase activity;ISS|GO:0051612;negative regulation of serotonin uptake;ISS|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0098735;positive regulation of the force of heart contraction;ISS|GO:0098924;retrograde trans-synaptic signaling by nitric oxide;IEA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;TAS|GO:1901206;positive regulation of adrenergic receptor signaling pathway involved in heart process;IEA|GO:1902307;positive regulation of sodium ion transmembrane transport;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;TAS|GO:1903779;regulation of cardiac conduction;TAS|GO:0001666;response to hypoxia;IEP|GO:0002028;regulation of sodium ion transport;ISS|GO:0006527;arginine catabolic process;IC|GO:0006809;nitric oxide biosynthetic process;ISS|GO:0006941;striated muscle contraction;ISS|GO:0007263;nitric oxide mediated signal transduction;IBA|GO:0007520;myoblast fusion;TAS|GO:0009408;response to heat;IDA|GO:0010523;negative regulation of calcium ion transport into cytosol;TAS|GO:0018119;peptidyl-cysteine S-nitrosylation;ISS|GO:0031284;positive regulation of guanylate cyclase activity;IBA|GO:0033555;multicellular organismal response to stress;IMP|GO:0035066;positive regulation of histone acetylation;ISS|GO:0042136;neurotransmitter biosynthetic process;TAS|GO:0042311;vasodilation;IDA|GO:0042738;exogenous drug catabolic process;ISS|GO:0043267;negative regulation of potassium ion transport;ISS|GO:0045454;cell redox homeostasis;TAS|GO:0045776;negative regulation of blood pressure;IBA|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050767;regulation of neurogenesis;IEA|GO:0051346;negative regulation of hydrolase activity;ISS|GO:0051612;negative regulation of serotonin uptake;ISS|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0098735;positive regulation of the force of heart contraction;ISS|GO:0098924;retrograde trans-synaptic signaling by nitric oxide;IEA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;TAS|GO:1901206;positive regulation of adrenergic receptor signaling pathway involved in heart process;IEA|GO:1902307;positive regulation of sodium ion transmembrane transport;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;TAS|GO:1903779;regulation of cardiac conduction;TAS GO:0001917;photoreceptor inner segment;ISS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;ISS|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IEA|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030018;Z disc;IEA|GO:0030315;T-tubule;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043234;protein complex;ISS|GO:0045121;membrane raft;ISS|GO:0045202;synapse;ISS|GO:0048471;perinuclear region of cytoplasm;ISS|GO:1990425;ryanodine receptor complex;TAS GO:0003958;NADPH-hemoprotein reductase activity;IBA|GO:0004517;nitric-oxide synthase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0010181;FMN binding;ISS|GO:0016491;oxidoreductase activity;IEA|GO:0017080;sodium channel regulator activity;ISS|GO:0020037;heme binding;ISS|GO:0034617;tetrahydrobiopterin binding;NAS|GO:0034618;arginine binding;TAS|GO:0044325;ion channel binding;ISS|GO:0046870;cadmium ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;ISS|GO:0050661;NADP binding;ISS|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NOS1 https://www.uniprot.org/uniprot/P29475 https://hpo.jax.org/app/browse/search?q=NOS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=163731 http://www.informatics.jax.org/searchtool/Search.do?query=NOS1&submit=Quick%0D%86ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOS1 rs34385734 0 0 0 1 0 0 intronic intronic intronic NOS1 NOS1 ENSG00000089250 Na Na Na Na Na Na Het;+CCAT 418;2|11 Het;+CCAT 367;1|10 Hom;+CCAT 141;0|4 N N - 12 118467553 118467553 A G snp intronic RFC5 Rfc5 ENSG00000111445 replication factor C subunit 5 chr12:118451393-118470935 The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 36 kD subunit. This subunit can interact with the C-terminal region of PCNA. It forms a core complex with the 38 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9. [provided by RefSeq, May 2011] Graft vs Host Disease; longevity; bladder cancer; Hematologic Neoplasms; multiple sclerosis G2/M DNA damage checkpoint GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;NAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0042276;error-prone translesion synthesis;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0070987;error-free translesion synthesis;TAS|GO:1900264;positive regulation of DNA-directed DNA polymerase activity;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005663;DNA replication factor C complex;IDA|GO:0031390;Ctf18 RFC-like complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003689;DNA clamp loader activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;NAS|GO:0043142;single-stranded DNA-dependent ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/RFC5 https://www.uniprot.org/uniprot/P40937 https://www.ncbi.nlm.nih.gov/omim/?term=600407 http://www.informatics.jax.org/searchtool/Search.do?query=RFC5&submit=Quick%0D%4079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFC5 rs4767654 0.483626 0.4076 0.4426 1 0 0 intronic intronic intronic RFC5 RFC5 ENSG00000111445 Na Na Na Na Na Na Het;A>G 1324;49|62 Ref Hom;A>G 3125;0|114 N N - 12 118506186 118506186 A T snp synonymous SNV T1563A L521L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral VSIG10 Vsig10 ENSG00000176834 V-set and immunoglobulin domain containing 10 chr12:118501398-118573831 Diabetes Mellitus, Type 2 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/VSIG10 http://www.informatics.jax.org/searchtool/Search.do?query=VSIG10&submit=Quick%0D%13917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSIG10 rs67405503 0.421326 0.3992 0.4160 1 0 0 exonic exonic exonic VSIG10 VSIG10 ENSG00000176834 synonymous SNV synonymous SNV unknown VSIG10:NM_019086:exon8:c.T1563A:p.L521L, VSIG10:uc001tws.3:exon8:c.T1563A:p.L521L, UNKNOWN Het;A>T 587;30|27 Ref Hom;A>T 1612;1|59 N N - 12 118509086 118509086 A T snp intronic VSIG10 Vsig10 ENSG00000176834 V-set and immunoglobulin domain containing 10 chr12:118501398-118573831 Diabetes Mellitus, Type 2 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/VSIG10 http://www.informatics.jax.org/searchtool/Search.do?query=VSIG10&submit=Quick%0D%13917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSIG10 rs7135400 0.766973 0 0 1 0 0 intronic intronic intronic VSIG10 VSIG10 ENSG00000176834 Na Na Na Na Na Na Het;A>T 639;20|21 Ref Hom;A>T 1260;0|35 N N - 12 118509148 118509148 C T snp intronic VSIG10 Vsig10 ENSG00000176834 V-set and immunoglobulin domain containing 10 chr12:118501398-118573831 Diabetes Mellitus, Type 2 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/VSIG10 http://www.informatics.jax.org/searchtool/Search.do?query=VSIG10&submit=Quick%0D%13917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSIG10 rs7308222 0.667332 0.5303 0.5177 1 0 0 intronic intronic intronic VSIG10 VSIG10 ENSG00000176834 Na Na Na Na Na Na Het;C>T 2080;42|54 Ref Hom;C>T 4895;0|106 N N - 12 118509157 118509157 T C snp intronic VSIG10 Vsig10 ENSG00000176834 V-set and immunoglobulin domain containing 10 chr12:118501398-118573831 Diabetes Mellitus, Type 2 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/VSIG10 http://www.informatics.jax.org/searchtool/Search.do?query=VSIG10&submit=Quick%0D%13917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSIG10 rs7296643 0.682308 0.5382 0.5213 1 0 0 intronic intronic intronic VSIG10 VSIG10 ENSG00000176834 Na Na Na Na Na Na Het;T>C 2273;48|61 Ref Hom;T>C 5086;0|117 N N - 12 119270926 119270926 T C snp ncRNA_intronic LINC02439 rs74932611 0.0632987 0 0 1 0 0 intergenic intergenic ncRNA_intronic SUDS3(dist=415086),SRRM4(dist=148374) SUDS3(dist=415086),SRRM4(dist=148374) ENSG00000255814 Na Na Na Na Na Na Het;T>C 432;10|15 Ref Hom;T>C 667;0|20 N N - 12 119563084 119563084 C G snp intronic SRRM4 Srrm4 ENSG00000139767 serine/arginine repetitive matrix 4 chr12:119419300-119600856 SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009] Tobacco Use Disorder Most homozygous null mice die neonatally with respiratory defects while survivors show tremors, head tilt, circling, premature neurogenesis, altered neurite outgrowth, cortical layering and axon guidance. Homozygotes for a spontaneous deletion show inner ear hair cell, balance and hearing defects. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0043484;regulation of RNA splicing;IEA GO:0005634;nucleus;IEA GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRRM4 https://www.uniprot.org/uniprot/A7MD48 https://www.ncbi.nlm.nih.gov/omim/?term=613103 http://www.informatics.jax.org/searchtool/Search.do?query=SRRM4&submit=Quick%0D%7938ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRM4 rs7296134 0.711661 0 0 1 0 0 intronic intronic intronic SRRM4 SRRM4 ENSG00000139767 Na Na Na Na Na Na Het;C>G 210;11|8 Ref Hom;C>G 262;0|10 N N - 12 119568691 119568691 A G snp intronic SRRM4 Srrm4 ENSG00000139767 serine/arginine repetitive matrix 4 chr12:119419300-119600856 SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009] Tobacco Use Disorder Most homozygous null mice die neonatally with respiratory defects while survivors show tremors, head tilt, circling, premature neurogenesis, altered neurite outgrowth, cortical layering and axon guidance. Homozygotes for a spontaneous deletion show inner ear hair cell, balance and hearing defects. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0043484;regulation of RNA splicing;IEA GO:0005634;nucleus;IEA GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRRM4 https://www.uniprot.org/uniprot/A7MD48 https://www.ncbi.nlm.nih.gov/omim/?term=613103 http://www.informatics.jax.org/searchtool/Search.do?query=SRRM4&submit=Quick%0D%7938ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRM4 rs4298970 0.71226 0.6883 0 1 0 0 intronic intronic intronic SRRM4 SRRM4 ENSG00000139767 Na Na Na Na Na Na Het;A>G 908;32|32 Ref Hom;A>G 2089;2|68 N N - 12 119632307 119632307 A G snp UTR3 *644A>G HSPB8 Hspb8 ENSG00000152137 heat shock protein family B (small) member 8 chr12:119616447-119658936 The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008] bladder cancer; lung cancer ; chronic obstructive pulmonary disease; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; lung cancer; Stroke When exposed to pressure overload, mice homozygous for a knock-out allele develop less hypertrophy and display ventricular dilation, impaired contractile function, increased myocyte length and accumulation of interstitial collagen, accelerated transitioninto heart failure, and increased mortality. HSF1-dependent transactivation GO:0008150;biological_process;ND|GO:1900034;regulation of cellular response to heat;TAS GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSPB8 https://www.uniprot.org/uniprot/Q9UJY1 https://hpo.jax.org/app/browse/search?q=HSPB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608014 http://www.informatics.jax.org/searchtool/Search.do?query=HSPB8&submit=Quick%0D%9510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPB8 rs11038 0.380192 0 0 1 0 0 UTR3 UTR3 UTR3 HSPB8(NM_014365:c.*644A>G) HSPB8(uc001txb.3:c.*644A>G) ENSG00000152137(ENST00000281938:c.*644A>G) Na Na Na Na Na Na Het;A>G 1653;46|66 Ref Hom;A>G 2511;0|85 N N - 12 120196213 120196213 C G snp intronic CIT Cit ENSG00000122966 citron rho-interacting serine/threonine kinase chr12:120123595-120315095 This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Type 2 Diabetes| edema | rosiglitazone; Bipolar Disorder; Tobacco Use Disorder Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors. RHO GTPases activate CIT GO:0000086;G2/M transition of mitotic cell cycle;IEA|GO:0000278;mitotic cell cycle;ISS|GO:0000281;mitotic cytokinesis;IMP|GO:0000910;cytokinesis;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007030;Golgi organization;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008064;regulation of actin polymerization or depolymerization;IEA|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0048699;generation of neurons;ISS|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031985;Golgi cisterna;IEA|GO:0043025;neuronal cell body;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0017124;SH3 domain binding;IEA|GO:0030165;PDZ domain binding;IDA|GO:0046872;metal ion binding;IEA|GO:0097110;scaffold protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CIT https://www.uniprot.org/uniprot/O14578 https://hpo.jax.org/app/browse/search?q=CIT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605629 http://www.informatics.jax.org/searchtool/Search.do?query=CIT&submit=Quick%0D%5473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CIT rs2074052 0.459265 0 0 1 0 0 intronic intronic intronic CIT CIT ENSG00000122966 Na Na Na Na Na Na Het;C>G 246;1|7 Het;C>G 91;1|3 Hom;C>G 182;0|5 N N - 12 120534606 120534606 C T snp synonymous SNV G444A A148A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RAB35 Rab35 ENSG00000111737 RAB35, member RAS oncogene family chr12:120532899-120555306 Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression RAB GEFs exchange GTP for GDP on RABs GO:0000910;cytokinesis;IMP|GO:0006810;transport;IEA|GO:0008104;protein localization;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;IMP|GO:0019882;antigen processing and presentation;IMP|GO:0031175;neuron projection development;ISS|GO:0032456;endocytic recycling;IBA|GO:0036010;protein localization to endosome;IMP|GO:0048227;plasma membrane to endosome transport;IMP|GO:0061024;membrane organization;TAS|GO:1990090;cellular response to nerve growth factor stimulus;ISS GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005905;clathrin-coated pit;IDA|GO:0010008;endosome membrane;IBA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031253;cell projection membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042470;melanosome;IEA|GO:0045171;intercellular bridge;IDA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0019003;GDP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAB35 https://www.uniprot.org/uniprot/Q15286 https://www.ncbi.nlm.nih.gov/omim/?term=604199 http://www.informatics.jax.org/searchtool/Search.do?query=RAB35&submit=Quick%0D%4128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB35 rs574483515 0.000199681 0 0.0009 1 0 0 UTR3 exonic exonic RAB35(NM_006861:c.*443G>A,NM_001167606:c.*465G>A) RAB35 ENSG00000111737 Na synonymous SNV unknown Na RAB35:uc009zww.2:exon7:c.G444A:p.A148A, UNKNOWN Het;C>T 48;1|3 Ref Hom;C>T 71;0|4 N N - 12 121352974 121352974 A G snp downstream AC078875.1 rs2701185 0.708666 0 0 1 0 0 intergenic intergenic downstream SPPL3(dist=10819),HNF1A-AS1(dist=54667) SPPL3(dist=10819),HNF1A-AS1(dist=54667) ENSG00000231313 Na Na Na Na Na Na Het;A>G 92;13|8 Het;A>G 118;8|7 Hom;A>G 419;0|18 N N - 12 121578033 121578035 CAA C indel intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs34762444 0.157348 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;-AA 77;4|3 Ref Hom;-AA 147;0|5 N N - 12 121593019 121593019 C T snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs1718125 0.234225 0 0.1794 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;C>T 1008;35|42 Ref Hom;C>T 2036;2|79 N N - 12 121594056 121594056 G A snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208290 0.467053 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;G>A 301;7|11 Ref Hom;G>A 492;0|16 N N - 12 121598565 121598565 G A snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs1794887 0.105831 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;G>A 64;6|3 Ref Hom;G>A 281;0|8 N N - 12 121598652 121598652 G A snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs1653583 0.10603 0.1167 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;G>A 379;26|19 Ref Hom;G>A 1304;4|51 N N - 12 121600180 121600180 C T snp UTR3 *230C>T P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208293 0.469249 0.4268 0.3410 1 0 0 intronic intronic UTR3 P2RX7 P2RX7 ENSG00000089041(ENST00000535928:c.*230C>T) Na Na Na Na Na Na Het;C>T 1311;73|61 Ref Hom;C>T 2859;3|107 N N - 12 121600253 121600253 T C snp nonsynonymous SNV T193C Y65H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208294 0.529952 0.6003 0.5243 0.80 8 10 exonic exonic exonic P2RX7 P2RX7 ENSG00000089041 nonsynonymous SNV nonsynonymous SNV unknown P2RX7:NM_002562:exon5:c.T463C:p.Y155H, P2RX7:uc001tzn.3:exon6:c.T193C:p.Y65H,P2RX7:uc001tzm.3:exon5:c.T463C:p.Y155H, UNKNOWN Het;T>C 1500;78|67 Ref Hom;T>C 3001;3|114 N N - 12 121603053 121603053 T C snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208304 0.253395 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;T>C 79;4|3 Ref Hom;T>C 367;0|11 N N - 12 121603118 121603118 T C snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs507085 0.253395 0 0.2795 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;T>C 311;13|9 Ref Hom;T>C 1179;0|25 N N - 12 121603122 121603122 C A snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs654856 0.253395 0 0.2795 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;C>A 311;13|9 Ref Hom;C>A 1179;0|28 N N - 12 121603745 121603745 T G snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208306 0.253195 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;T>G 178;7|6 Ref Hom;T>G 232;0|7 N N - 12 121603825 121603829 ATGTT A indel intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs145054777 0.252995 0.3054 0.2811 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;-TGTT 872;33|24 Ref Hom;-TGTT 2345;0|54 N N - 12 121603856 121603856 C G snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208307 0.253195 0.3152 0.2810 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;C>G 944;55|36 Ref Hom;C>G 2709;0|97 N N - 12 121604126 121604126 A G snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208308 0.252796 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;A>G 443;11|12 Ref Hom;A>G 1100;0|27 N N - 12 121604135 121604135 A T snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs208309 0.252596 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;A>T 443;10|12 Ref Hom;A>T 924;0|20 N N - 12 121604146 121604146 C G snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs475836 0.494808 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;C>G 413;7|11 Ref Hom;C>G 687;0|16 N N - 12 121604147 121604147 A C snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs78930509 0.252596 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;A>C 413;7|11 Ref Hom;A>C 687;0|16 N N - 12 121605599 121605599 C T snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs686638 0.296725 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;C>T 178;9|7 Ref Hom;C>T 279;0|9 N N - 12 121622023 121622023 C T snp intronic P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs1626329 0.3123 0 0 1 0 0 intronic intronic intronic P2RX7 P2RX7 ENSG00000089041 Na Na Na Na Na Na Het;C>T 294;6|9 Ref Hom;C>T 127;0|4 N N - 12 121622563 121622563 G A snp synonymous SNV G1746A P582P hydrophobic,neutral hydrophobic,neutral P2RX7 P2rx7 ENSG00000089041 purinergic receptor P2X 7 chr12:121570622-121623876 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] leukemia, lymphoid; lung cancer ; Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Tobacco Use Disorder; Bipolar Disorder; depressive disorder, major; depression; Type 2 Diabetes| edema | rosiglitazone; leukemia; Hypertension; Chorioretinitis|Toxoplasmosis, Congenital; anxiety disorder; Response heterogeneity of human macrophages to ATP; Crohn's disease; Femoral Neck Fractures|Hip Fractures|Osteoporosis, Postmenopausal; chronic obstructive pulmonary disease; Tuberculosis, Pulmonary; lung cancer; Tuberculosis; Tuberculosis|Tuberculosis, Pulmonary; null; Lupus Erythematosus, Systemic; graft-versus-host disease; tuberculosis; multiple myeloma; bipolar disorder; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Hyperparathyroidism, Secondary; fractures, vertebral; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer; Carcinoma, Papillary|Carcinoma, Papillary, Follicular|Goiter, Nodular|Thyroid Neoplasms; Heart Rate; Bone Mineral Density; depression | Bipolar Disorder Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. The NLRP3 inflammasome GO:0000187;activation of MAPK activity;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001845;phagolysosome assembly;IEA|GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0002028;regulation of sodium ion transport;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0006900;membrane budding;IEA|GO:0006954;inflammatory response;IEA|GO:0007005;mitochondrion organization;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0007596;blood coagulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010467;gene expression;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0012501;programmed cell death;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0016485;protein processing;IEA|GO:0017121;phospholipid scrambling;IDA|GO:0019233;sensory perception of pain;ISS|GO:0019835;cytolysis;IEA|GO:0030501;positive regulation of bone mineralization;ISS|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032060;bleb assembly;IDA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032963;collagen metabolic process;IEA|GO:0033198;response to ATP;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0034767;positive regulation of ion transmembrane transport;IMP|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042098;T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043132;NAD transport;IEA|GO:0043409;negative regulation of MAPK cascade;ISS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044254;multicellular organismal protein catabolic process;IEA|GO:0045332;phospholipid translocation;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;ISS|GO:0045794;negative regulation of cell volume;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045919;positive regulation of cytolysis;ISS|GO:0046513;ceramide biosynthetic process;IEA|GO:0046931;pore complex assembly;IDA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050717;positive regulation of interleukin-1 alpha secretion;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051259;protein oligomerization;IEA|GO:0051495;positive regulation of cytoskeleton organization;ISS|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051709;regulation of killing of cells of other organism;NAS|GO:0051899;membrane depolarization;IDA|GO:0051901;positive regulation of mitochondrial depolarization;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097190;apoptotic signaling pathway;ISS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1904172;positive regulation of bleb assembly;IMP GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0032059;bleb;ISS|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA|GO:0098794;postsynapse;IEA GO:0001530;lipopolysaccharide binding;ISS|GO:0001614;purinergic nucleotide receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0004931;extracellular ATP-gated cation channel activity;IEA|GO:0005102;receptor binding;ISS|GO:0005216;ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015267;channel activity;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/P2RX7 https://www.uniprot.org/uniprot/Q99572 https://www.ncbi.nlm.nih.gov/omim/?term=602566 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX7&submit=Quick%0D%2034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX7 rs1621388 0.320288 0.4019 0.4162 1 0 0 exonic exonic exonic P2RX7 P2RX7 ENSG00000089041 synonymous SNV synonymous SNV unknown P2RX7:NM_002562:exon13:c.G1746A:p.P582P, P2RX7:uc001tzn.3:exon14:c.G1476A:p.P492P,P2RX7:uc001tzq.3:exon12:c.G1236A:p.P412P,P2RX7:uc001tzp.3:exon11:c.G879A:p.P293P,P2RX7:uc001tzm.3:exon13:c.G1746A:p.P582P, UNKNOWN Het;G>A 623;26|27 Ref Hom;G>A 1441;1|56 N N - 12 122034406 122034406 T TTATCTACA indel upstream MIR548AQ rs143728556 0.377596 0 0 1 0 0 upstream intergenic intergenic MIR548AQ KDM2B(dist=15486),ORAI1(dist=30049) ENSG00000256742(dist=2997),ENSG00000252393(dist=8401) Na Na Na Na Na Na Het;+TATCTACA 224;4|7 Ref Hom;+TATCTACA 98;0|3 N N - 12 122079189 122079189 C T snp synonymous SNV C552T I184I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ORAI1 Orai1 ENSG00000276045 ORAI calcium release-activated calcium modulator 1 chr12:122064455-122080583 The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011] Tubular-Aggregate Myopathy Mice homozygous for a null allele exhibit small body size and defective mast cell degranulation, cytokine secretion and passive anaphalaxis. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002115;store-operated calcium entry;IEA|GO:0061180;mammary gland epithelium development;IEA|GO:0070509;calcium ion import;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043234;protein complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/ORAI1 https://hpo.jax.org/app/browse/search?q=ORAI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610277 http://www.informatics.jax.org/searchtool/Search.do?query=ORAI1&submit=Quick%0D%21512ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORAI1 rs3741595 0.203874 0.1396 0.1968 1 0 0 exonic exonic exonic ORAI1 ORAI1 ENSG00000182500 synonymous SNV synonymous SNV unknown ORAI1:NM_032790:exon2:c.C552T:p.I184I, ORAI1:uc021rff.1:exon2:c.C552T:p.I184I, UNKNOWN Het;C>T 2710;130|117 Het;C>T 2491;117|116 Hom;C>T 7196;0|263 N N - 12 122079441 122079441 T C snp synonymous SNV T804C T268T polar,hydrophilic,neutral polar,hydrophilic,neutral ORAI1 Orai1 ENSG00000276045 ORAI calcium release-activated calcium modulator 1 chr12:122064455-122080583 The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011] Tubular-Aggregate Myopathy Mice homozygous for a null allele exhibit small body size and defective mast cell degranulation, cytokine secretion and passive anaphalaxis. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002115;store-operated calcium entry;IEA|GO:0061180;mammary gland epithelium development;IEA|GO:0070509;calcium ion import;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043234;protein complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/ORAI1 https://hpo.jax.org/app/browse/search?q=ORAI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610277 http://www.informatics.jax.org/searchtool/Search.do?query=ORAI1&submit=Quick%0D%21512ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORAI1 rs3825175 0.555711 0.5129 0.4733 1 0 0 exonic exonic exonic ORAI1 ORAI1 ENSG00000182500 synonymous SNV synonymous SNV unknown ORAI1:NM_032790:exon2:c.T804C:p.T268T, ORAI1:uc021rff.1:exon2:c.T804C:p.T268T, UNKNOWN Het;T>C 2635;81|116 Het;T>C 2359;66|103 Hom;T>C 5462;0|198 N N - 12 122079682 122079682 A AT indel UTR3 *133A>AT ENSG00000182500 rs35558190 0.205072 0 0 1 0 0 UTR3 UTR3 UTR3 ORAI1(NM_032790:c.*133A>AT) ORAI1(uc021rff.1:c.*133A>AT) ENSG00000182500(ENST00000330079:c.*133A>AT) Na Na Na Na Na Na Het;+T 94;10|6 Het;+T 79;6|5 Hom;+T 141;0|6 N N - 12 122092063 122092063 T C snp intronic MORN3 Morn3 ENSG00000139714 MORN repeat containing 3 chr12:122089024-122110537 Male mice homozygous for a null allele exhibit normal fecundity. GO:0005634;nucleus;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MORN3 https://www.uniprot.org/uniprot/Q6PF18 http://www.informatics.jax.org/searchtool/Search.do?query=MORN3&submit=Quick%0D%7929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MORN3 rs7313601 0.329872 0 0 1 0 0 intronic intronic intronic MORN3 MORN3 ENSG00000139714 Na Na Na Na Na Na Het;T>C 142;10|6 Het;T>C 157;4|5 Hom;T>C 433;0|11 N N - 12 122097043 122097047 GCACA G indel intronic MORN3 Morn3 ENSG00000139714 MORN repeat containing 3 chr12:122089024-122110537 Male mice homozygous for a null allele exhibit normal fecundity. GO:0005634;nucleus;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MORN3 https://www.uniprot.org/uniprot/Q6PF18 http://www.informatics.jax.org/searchtool/Search.do?query=MORN3&submit=Quick%0D%7929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MORN3 rs57639477 0 0 0 1 0 0 intronic intronic intronic MORN3 MORN3 ENSG00000139714 Na Na Na Na Na Na Het;-CACA 206;26|12 Ref Hom;-CACA 966;0|24 N N - 12 122199444 122199444 G A snp intronic TMEM120B Tmem120b ENSG00000188735 transmembrane protein 120B chr12:122150658-122220907 Celiac Disease|; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0045444;fat cell differentiation;IBA|GO:0051291;protein heterooligomerization;ISS GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM120B https://www.ncbi.nlm.nih.gov/omim/?term=616551 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM120B&submit=Quick%0D%16096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM120B rs76845075 0.067492 0 0 1 0 0 intronic intronic intronic TMEM120B TMEM120B ENSG00000188735 Na Na Na Na Na Na Het;G>A 98;7|4 Ref Hom;G>A 374;0|12 N N - 12 122208989 122208989 A G snp intronic TMEM120B Tmem120b ENSG00000188735 transmembrane protein 120B chr12:122150658-122220907 Celiac Disease|; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0045444;fat cell differentiation;IBA|GO:0051291;protein heterooligomerization;ISS GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM120B https://www.ncbi.nlm.nih.gov/omim/?term=616551 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM120B&submit=Quick%0D%16096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM120B rs34623055 0.421326 0 0 1 0 0 intronic intronic intronic TMEM120B TMEM120B ENSG00000188735 Na Na Na Na Na Na Het;A>G 170;12|6 Ref Hom;A>G 483;0|15 N N - 12 122212525 122212525 C G snp intronic TMEM120B Tmem120b ENSG00000188735 transmembrane protein 120B chr12:122150658-122220907 Celiac Disease|; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0045444;fat cell differentiation;IBA|GO:0051291;protein heterooligomerization;ISS GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM120B https://www.ncbi.nlm.nih.gov/omim/?term=616551 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM120B&submit=Quick%0D%16096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM120B rs11043195 0.286542 0.1789 0.1566 1 0 0 intronic intronic intronic TMEM120B TMEM120B ENSG00000188735 Na Na Na Na Na Na Het;C>G 1296;51|52 Ref Hom;C>G 2474;0|91 N N - 12 122212659 122212659 C T snp intronic TMEM120B Tmem120b ENSG00000188735 transmembrane protein 120B chr12:122150658-122220907 Celiac Disease|; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0045444;fat cell differentiation;IBA|GO:0051291;protein heterooligomerization;ISS GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM120B https://www.ncbi.nlm.nih.gov/omim/?term=616551 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM120B&submit=Quick%0D%16096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM120B rs11043196 0.284545 0.1780 0.1618 1 0 0 intronic intronic intronic TMEM120B TMEM120B ENSG00000188735 Na Na Na Na Na Na Het;C>T 1613;77|75 Ref Hom;C>T 3622;0|138 N N - 12 122212752 122212752 G T snp intronic TMEM120B Tmem120b ENSG00000188735 transmembrane protein 120B chr12:122150658-122220907 Celiac Disease|; Tobacco Use Disorder GO:0008150;biological_process;ND|GO:0045444;fat cell differentiation;IBA|GO:0051291;protein heterooligomerization;ISS GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM120B https://www.ncbi.nlm.nih.gov/omim/?term=616551 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM120B&submit=Quick%0D%16096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM120B rs7314742 0.45607 0 0 1 0 0 intronic intronic intronic TMEM120B TMEM120B ENSG00000188735 Na Na Na Na Na Na Het;G>T 249;14|9 Ref Hom;G>T 632;0|19 N N - 12 122233375 122233375 C T snp ncRNA_exonic LINC01089 rs6746 0.123602 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01089 LOC338799 ENSG00000212694 Na Na Na Na Na Na Het;C>T 1406;59|60 Ref Hom;C>T 3247;0|121 N N - 12 122355152 122355152 T TA indel UTR3 *935T>TA PSMD9 Psmd9 ENSG00000110801 proteasome 26S subunit, non-ATPase 9 chr12:122326637-122356203 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012] diabetes, type 2; depression Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0032024;positive regulation of insulin secretion;ISS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0046676;negative regulation of insulin secretion;ISS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0070682;proteasome regulatory particle assembly;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0005634;nucleus;ISS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005838;proteasome regulatory particle;NAS|GO:0008540;proteasome regulatory particle, base subcomplex;IDA GO:0003713;transcription coactivator activity;ISS|GO:0005515;protein binding;IPI|GO:0043425;bHLH transcription factor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PSMD9 https://www.uniprot.org/uniprot/O00233 https://www.ncbi.nlm.nih.gov/omim/?term=603146 http://www.informatics.jax.org/searchtool/Search.do?query=PSMD9&submit=Quick%0D%3994ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMD9 rs11385149 0.474042 0 0 1 0 0 UTR3 UTR3 UTR3 PSMD9(NM_001261400:c.*935T>TA,NM_002813:c.*935T>TA) PSMD9(uc001ubl.4:c.*935T>TA,uc031qjx.1:c.*935T>TA) ENSG00000110801(ENST00000541212:c.*935T>TA,ENST00000261817:c.*935T>TA) Na Na Na Na Na Na Het;+A 678;33|28 Het;+A 493;17|20 Hom;+A 1193;0|38 N N - 12 122392038 122392038 C T snp nonsynonymous SNV C1333T L445F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral WDR66 Wdr66 ENSG00000158023 WD repeat domain 66 chr12:122355768-122441833 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] Metabolism; Platelet Count; Hemoglobins; benzene haematotoxicity; mean platelet volume GO:0003341;cilium movement;ISS GO:0001536;radial spoke stalk;ISS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005930;axoneme;ISS|GO:0031514;motile cilium;ISS|GO:0042995;cell projection;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR66 https://hpo.jax.org/app/browse/search?q=WDR66&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=WDR66&submit=Quick%0D%10160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR66 rs11043265 0.310503 0.1962 0.1371 0.15 2 13 exonic exonic exonic WDR66 WDR66 ENSG00000158023 nonsynonymous SNV nonsynonymous SNV unknown WDR66:NM_144668:exon10:c.C1333T:p.L445F,WDR66:NM_001178003:exon10:c.C1333T:p.L445F, WDR66:uc009zxk.3:exon10:c.C1333T:p.L445F,WDR66:uc021rfh.1:exon10:c.C1333T:p.L445F, UNKNOWN Het;C>T 510;35|24 Ref Hom;C>T 1923;0|68 N N - 12 122413196 122413196 T C snp nonsynonymous SNV T2818C F940L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral WDR66 Wdr66 ENSG00000158023 WD repeat domain 66 chr12:122355768-122441833 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] Metabolism; Platelet Count; Hemoglobins; benzene haematotoxicity; mean platelet volume GO:0003341;cilium movement;ISS GO:0001536;radial spoke stalk;ISS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005930;axoneme;ISS|GO:0031514;motile cilium;ISS|GO:0042995;cell projection;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR66 https://hpo.jax.org/app/browse/search?q=WDR66&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=WDR66&submit=Quick%0D%10160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR66 rs77422261 0.11262 0.0523 0.0609 0.77 10 13 exonic exonic exonic WDR66 WDR66 ENSG00000158023 nonsynonymous SNV nonsynonymous SNV unknown WDR66:NM_144668:exon18:c.T2818C:p.F940L, WDR66:uc009zxk.3:exon18:c.T2818C:p.F940L, UNKNOWN Het;T>C 627;13|28 Ref Hom;T>C 1398;0|50 N N - 12 122674758 122674758 G A snp synonymous SNV G189A R63R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LRRC43 Lrrc43 ENSG00000158113 leucine rich repeat containing 43 chr12:122652285-122688018 http://www.genecards.org/index.php?path=/Search/keyword/LRRC43 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC43&submit=Quick%0D%10171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC43 rs4758651 0.649161 0.6194 0.7073 1 0 0 exonic exonic exonic LRRC43 LRRC43 ENSG00000158113 synonymous SNV synonymous SNV unknown LRRC43:NM_152759:exon5:c.G189A:p.R63R,LRRC43:NM_001098519:exon5:c.G744A:p.R248R, LRRC43:uc009zxm.3:exon5:c.G744A:p.R248R,LRRC43:uc009zxn.3:exon1:c.G27A:p.R9R,LRRC43:uc001ubw.4:exon5:c.G189A:p.R63R, UNKNOWN Het;G>A 2707;101|127 Het;G>A 2012;61|94 Hom;G>A 4608;1|173 N N - 12 122675028 122675029 AC A indel intronic LRRC43 Lrrc43 ENSG00000158113 leucine rich repeat containing 43 chr12:122652285-122688018 http://www.genecards.org/index.php?path=/Search/keyword/LRRC43 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC43&submit=Quick%0D%10171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC43 rs11322813 0.296526 0 0 1 0 0 intronic intronic intronic LRRC43 LRRC43 ENSG00000158113 Na Na Na Na Na Na Het;-C 349;13|13 Ref Hom;-C 570;0|17 N N - 12 122675081 122675081 G A snp intronic LRRC43 Lrrc43 ENSG00000158113 leucine rich repeat containing 43 chr12:122652285-122688018 http://www.genecards.org/index.php?path=/Search/keyword/LRRC43 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC43&submit=Quick%0D%10171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC43 rs4758677 0.29353 0 0 1 0 0 intronic intronic intronic LRRC43 LRRC43 ENSG00000158113 Na Na Na Na Na Na Het;G>A 85;8|4 Ref Hom;G>A 204;0|7 N N - 12 122676013 122676013 A C snp synonymous SNV A433C R145R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LRRC43 Lrrc43 ENSG00000158113 leucine rich repeat containing 43 chr12:122652285-122688018 http://www.genecards.org/index.php?path=/Search/keyword/LRRC43 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC43&submit=Quick%0D%10171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC43 rs11060167 0.294529 0.2073 0.2865 1 0 0 exonic exonic exonic LRRC43 LRRC43 ENSG00000158113 synonymous SNV synonymous SNV unknown LRRC43:NM_152759:exon6:c.A433C:p.R145R,LRRC43:NM_001098519:exon6:c.A988C:p.R330R, LRRC43:uc009zxm.3:exon6:c.A988C:p.R330R,LRRC43:uc009zxn.3:exon2:c.A271C:p.R91R,LRRC43:uc001ubw.4:exon6:c.A433C:p.R145R, UNKNOWN Het;A>C 1492;66|62 Ref Hom;A>C 2302;0|82 N N - 12 122689161 122689161 C G snp UTR5 -5C>G B3GNT4 B3gnt4 ENSG00000176383 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 chr12:122688090-122693499 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030311;poly-N-acetyllactosamine biosynthetic process;IDA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0008532;N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNT4 https://www.ncbi.nlm.nih.gov/omim/?term=605864 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNT4&submit=Quick%0D%13845ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNT4 rs12827843 0.284345 0.2159 0.2860 1 0 0 UTR5 UTR5 UTR5 B3GNT4(NM_030765:c.-5C>G) B3GNT4(uc001ubx.3:c.-5C>G) ENSG00000176383(ENST00000324189:c.-5C>G,ENST00000535274:c.-1713C>G) Na Na Na Na Na Na Het;C>G 623;41|19 Ref Hom;C>G 2001;0|44 N N - 12 122689181 122689181 C G snp nonsynonymous SNV C16G P6A hydrophobic,neutral aliphatic,hydrophobic,neutral B3GNT4 B3gnt4 ENSG00000176383 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 chr12:122688090-122693499 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030311;poly-N-acetyllactosamine biosynthetic process;IDA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0008532;N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNT4 https://www.ncbi.nlm.nih.gov/omim/?term=605864 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNT4&submit=Quick%0D%13845ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNT4 rs7136356 0.454872 0.3549 0.3697 0.08 1 13 exonic exonic exonic B3GNT4 B3GNT4 ENSG00000176383 nonsynonymous SNV nonsynonymous SNV unknown B3GNT4:NM_030765:exon2:c.C16G:p.P6A, B3GNT4:uc001ubx.3:exon2:c.C16G:p.P6A, UNKNOWN Het;C>G 623;42|18 Ref Hom;C>G 2051;0|48 N N - 12 122689244 122689244 C T snp UTR5 -1630C>T B3GNT4 B3gnt4 ENSG00000176383 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 chr12:122688090-122693499 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030311;poly-N-acetyllactosamine biosynthetic process;IDA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0008532;N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNT4 https://www.ncbi.nlm.nih.gov/omim/?term=605864 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNT4&submit=Quick%0D%13845ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNT4 rs12828049 0.260383 0.2203 0.2925 1 0 0 intronic intronic UTR5 B3GNT4 B3GNT4 ENSG00000176383(ENST00000535274:c.-1630C>T) Na Na Na Na Na Na Het;C>T 310;29|17 Ref Hom;C>T 995;0|37 N N - 12 122701001 122701001 T A snp intronic DIABLO Diablo ENSG00000184047 diablo IAP-binding mitochondrial protein chr12:122692210-122712081 This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses. SMAC-mediated dissociation of IAP:caspase complexes GO:0006915;apoptotic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0051402;neuron apoptotic process;IEA|GO:0097193;intrinsic apoptotic signaling pathway;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005758;mitochondrial intermembrane space;TAS|GO:0005829;cytosol;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035631;CD40 receptor complex;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DIABLO https://hpo.jax.org/app/browse/search?q=DIABLO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605219 http://www.informatics.jax.org/searchtool/Search.do?query=DIABLO&submit=Quick%0D%15127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIABLO rs2271411 0.550719 0.4694 0.4276 1 0 0 intronic intronic intronic DIABLO DIABLO ENSG00000184047,ENSG00000256861 Na Na Na Na Na Na Het;T>A 636;23|33 Het;T>A 188;17|13 Hom;T>A 876;0|35 N N - 12 122703014 122703014 C T snp UTR5 -106G>A DIABLO Diablo ENSG00000184047 diablo IAP-binding mitochondrial protein chr12:122692210-122712081 This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses. SMAC-mediated dissociation of IAP:caspase complexes GO:0006915;apoptotic process;TAS|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0051402;neuron apoptotic process;IEA|GO:0097193;intrinsic apoptotic signaling pathway;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005758;mitochondrial intermembrane space;TAS|GO:0005829;cytosol;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035631;CD40 receptor complex;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DIABLO https://hpo.jax.org/app/browse/search?q=DIABLO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605219 http://www.informatics.jax.org/searchtool/Search.do?query=DIABLO&submit=Quick%0D%15127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIABLO rs7963565 0.526957 0 0 1 0 0 intronic intronic UTR5 DIABLO DIABLO ENSG00000184047(ENST00000474004:c.-106G>A) Na Na Na Na Na Na Het;C>T 754;29|28 Het;C>T 414;30|19 Hom;C>T 1654;0|55 N N - 12 122720310 122720310 C T snp intronic VPS33A Vps33a ENSG00000139719 VPS33A, CORVET/HOPS core subunit chr12:122714111-122751068 Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. GO:0006810;transport;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IDA|GO:0030220;platelet formation;ISS|GO:0032400;melanosome localization;IDA|GO:0032418;lysosome localization;IDA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0048070;regulation of developmental pigmentation;ISS|GO:0097352;autophagosome maturation;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0071439;clathrin complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/VPS33A https://www.uniprot.org/uniprot/Q96AX1 https://hpo.jax.org/app/browse/search?q=VPS33A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610034 http://www.informatics.jax.org/searchtool/Search.do?query=VPS33A&submit=Quick%0D%7931ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS33A rs2271408 0.287939 0.2116 0.2923 1 0 0 intronic intronic intronic VPS33A VPS33A ENSG00000139719,ENSG00000256861 Na Na Na Na Na Na Het;C>T 841;48|40 Het;C>T 591;38|32 Hom;C>T 2094;0|76 N N - 12 122750686 122750686 C G snp intronic VPS33A Vps33a ENSG00000139719 VPS33A, CORVET/HOPS core subunit chr12:122714111-122751068 Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. GO:0006810;transport;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IDA|GO:0030220;platelet formation;ISS|GO:0032400;melanosome localization;IDA|GO:0032418;lysosome localization;IDA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0048070;regulation of developmental pigmentation;ISS|GO:0097352;autophagosome maturation;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0071439;clathrin complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/VPS33A https://www.uniprot.org/uniprot/Q96AX1 https://hpo.jax.org/app/browse/search?q=VPS33A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610034 http://www.informatics.jax.org/searchtool/Search.do?query=VPS33A&submit=Quick%0D%7931ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS33A rs2277333 0.291334 0 0 1 0 0 intronic intronic intronic VPS33A VPS33A ENSG00000139719,ENSG00000256861 Na Na Na Na Na Na Het;C>G 153;2|7 Het;C>G 70;1|3 Hom;C>G 372;0|11 N N - 12 122762604 122762604 T C snp UTR5 -1616A>G CLIP1 Clip1 ENSG00000130779 CAP-Gly domain containing linker protein 1 chr12:122755979-122907179 The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tunica Media Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. Mitotic Prometaphase GO:0000278;mitotic cell cycle;TAS|GO:0001578;microtubule bundle formation;IMP|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0044861;protein transport into plasma membrane raft;IEA GO:0000776;kinetochore;TAS|GO:0001726;ruffle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IMP|GO:0005881;cytoplasmic microtubule;IEA|GO:0005882;intermediate filament;TAS|GO:0015630;microtubule cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035371;microtubule plus-end;IDA|GO:0042995;cell projection;IEA|GO:0044354;macropinosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0015631;tubulin binding;IDA|GO:0042803;protein homodimerization activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLIP1 https://www.uniprot.org/uniprot/P30622 https://www.ncbi.nlm.nih.gov/omim/?term=179838 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP1&submit=Quick%0D%6444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP1 rs2271409 0.364617 0 0 1 0 0 intronic intronic UTR5 CLIP1 CLIP1 ENSG00000130779(ENST00000540539:c.-1616A>G) Na Na Na Na Na Na Het;T>C 133;8|5 Het;T>C 74;8|5 Hom;T>C 444;0|15 N N - 12 122812503 122812503 G C snp nonsynonymous SNV C3207G D1069E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CLIP1 Clip1 ENSG00000130779 CAP-Gly domain containing linker protein 1 chr12:122755979-122907179 The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tunica Media Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. Mitotic Prometaphase GO:0000278;mitotic cell cycle;TAS|GO:0001578;microtubule bundle formation;IMP|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0044861;protein transport into plasma membrane raft;IEA GO:0000776;kinetochore;TAS|GO:0001726;ruffle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IMP|GO:0005881;cytoplasmic microtubule;IEA|GO:0005882;intermediate filament;TAS|GO:0015630;microtubule cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035371;microtubule plus-end;IDA|GO:0042995;cell projection;IEA|GO:0044354;macropinosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0015631;tubulin binding;IDA|GO:0042803;protein homodimerization activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLIP1 https://www.uniprot.org/uniprot/P30622 https://www.ncbi.nlm.nih.gov/omim/?term=179838 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP1&submit=Quick%0D%6444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP1 rs1129167 0.40655 0.4683 0.5625 0.15 2 13 exonic exonic exonic CLIP1 CLIP1 ENSG00000130779 nonsynonymous SNV nonsynonymous SNV unknown CLIP1:NM_001247997:exon17:c.C3240G:p.D1080E,CLIP1:NM_198240:exon15:c.C3102G:p.D1034E,CLIP1:NM_002956:exon16:c.C3207G:p.D1069E, CLIP1:uc001uch.1:exon16:c.C3207G:p.D1069E,CLIP1:uc001ucj.1:exon12:c.C1965G:p.D655E,CLIP1:uc001uci.1:exon15:c.C3102G:p.D1034E,CLIP1:uc001ucg.2:exon17:c.C3240G:p.D1080E, UNKNOWN Het;G>C 543;14|22 Ref Hom;G>C 1400;0|47 N N - 12 122817507 122817507 A G snp intronic CLIP1 Clip1 ENSG00000130779 CAP-Gly domain containing linker protein 1 chr12:122755979-122907179 The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tunica Media Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. Mitotic Prometaphase GO:0000278;mitotic cell cycle;TAS|GO:0001578;microtubule bundle formation;IMP|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0044861;protein transport into plasma membrane raft;IEA GO:0000776;kinetochore;TAS|GO:0001726;ruffle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IMP|GO:0005881;cytoplasmic microtubule;IEA|GO:0005882;intermediate filament;TAS|GO:0015630;microtubule cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035371;microtubule plus-end;IDA|GO:0042995;cell projection;IEA|GO:0044354;macropinosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0015631;tubulin binding;IDA|GO:0042803;protein homodimerization activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLIP1 https://www.uniprot.org/uniprot/P30622 https://www.ncbi.nlm.nih.gov/omim/?term=179838 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP1&submit=Quick%0D%6444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP1 rs7956480 0.820687 0.7802 0.7756 1 0 0 intronic intronic intronic CLIP1 CLIP1 ENSG00000130779 Na Na Na Na Na Na Het;A>G 550;43|26 Het;A>G 811;48|41 Hom;A>G 2189;0|77 N N - 12 122838956 122838956 A G snp intronic CLIP1 Clip1 ENSG00000130779 CAP-Gly domain containing linker protein 1 chr12:122755979-122907179 The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tunica Media Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. Mitotic Prometaphase GO:0000278;mitotic cell cycle;TAS|GO:0001578;microtubule bundle formation;IMP|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0044861;protein transport into plasma membrane raft;IEA GO:0000776;kinetochore;TAS|GO:0001726;ruffle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IMP|GO:0005881;cytoplasmic microtubule;IEA|GO:0005882;intermediate filament;TAS|GO:0015630;microtubule cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035371;microtubule plus-end;IDA|GO:0042995;cell projection;IEA|GO:0044354;macropinosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0015631;tubulin binding;IDA|GO:0042803;protein homodimerization activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLIP1 https://www.uniprot.org/uniprot/P30622 https://www.ncbi.nlm.nih.gov/omim/?term=179838 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP1&submit=Quick%0D%6444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP1 rs4997380 0.736422 0.6006 0.7485 1 0 0 intronic intronic intronic CLIP1 CLIP1 ENSG00000130779 Na Na Na Na Na Na Het;A>G 355;9|16 Het;A>G 95;14|7 Hom;A>G 401;0|17 N N - 12 122884076 122884076 C T snp ncRNA_exonic CLIP1-AS1 rs3825096 0.410144 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CLIP1-AS1 LOC100507066 ENSG00000257097 Na Na Na Na Na Na Het;C>T 1597;109|71 Ref Hom;C>T 4364;0|153 N N - 12 122964708 122964708 T C snp intronic ZCCHC8 Zcchc8 ENSG00000033030 zinc finger CCHC-type containing 8 chr12:122957417-122985518 Autosomal Recessive Mental Retardation GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IEA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC8 https://www.uniprot.org/uniprot/Q6NZY4 https://www.ncbi.nlm.nih.gov/omim/?term=616381 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC8&submit=Quick%0D%751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC8 rs10846978 0.823283 0.7936 0.8011 1 0 0 intronic intronic intronic ZCCHC8 ZCCHC8 ENSG00000033030 Na Na Na Na Na Na Het;T>C 622;51|26 Het;T>C 473;34|21 Hom;T>C 2153;0|68 N N - 12 122966373 122966373 T C snp intronic ZCCHC8 Zcchc8 ENSG00000033030 zinc finger CCHC-type containing 8 chr12:122957417-122985518 Autosomal Recessive Mental Retardation GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IEA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC8 https://www.uniprot.org/uniprot/Q6NZY4 https://www.ncbi.nlm.nih.gov/omim/?term=616381 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC8&submit=Quick%0D%751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC8 rs4758692 0.420927 0 0 1 0 0 intronic intronic intronic ZCCHC8 ZCCHC8 ENSG00000033030 Na Na Na Na Na Na Het;T>C 378;7|13 Ref Hom;T>C 373;0|10 N N - 12 122975247 122975248 GT G indel intronic ZCCHC8 Zcchc8 ENSG00000033030 zinc finger CCHC-type containing 8 chr12:122957417-122985518 Autosomal Recessive Mental Retardation GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IEA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC8 https://www.uniprot.org/uniprot/Q6NZY4 https://www.ncbi.nlm.nih.gov/omim/?term=616381 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC8&submit=Quick%0D%751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC8 rs11318334 0.471046 0 0 1 0 0 intronic intronic intronic ZCCHC8 ZCCHC8 ENSG00000033030 Na Na Na Na Na Na Het;-T 648;15|20 Ref Hom;-T 1136;0|29 N N - 12 122983460 122983460 A G snp UTR5 -16261T>C ZCCHC8 Zcchc8 ENSG00000033030 zinc finger CCHC-type containing 8 chr12:122957417-122985518 Autosomal Recessive Mental Retardation GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IEA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC8 https://www.uniprot.org/uniprot/Q6NZY4 https://www.ncbi.nlm.nih.gov/omim/?term=616381 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC8&submit=Quick%0D%751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC8 rs7314638 0.823283 0.7914 0.7731 1 0 0 intronic intronic UTR5 ZCCHC8 ZCCHC8 ENSG00000033030(ENST00000543897:c.-16261T>C,ENST00000536306:c.-16261T>C) Na Na Na Na Na Na Het;A>G 678;20|27 Het;A>G 461;20|22 Hom;A>G 1464;0|56 N N - 12 122985057 122985057 G T snp UTR5 -17858C>A ZCCHC8 Zcchc8 ENSG00000033030 zinc finger CCHC-type containing 8 chr12:122957417-122985518 Autosomal Recessive Mental Retardation GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IEA|GO:0016604;nuclear body;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC8 https://www.uniprot.org/uniprot/Q6NZY4 https://www.ncbi.nlm.nih.gov/omim/?term=616381 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC8&submit=Quick%0D%751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC8 rs1473553 0.824281 0 0 1 0 0 intronic intronic UTR5 ZCCHC8 ZCCHC8 ENSG00000033030(ENST00000543897:c.-17858C>A,ENST00000540586:c.-17858C>A) Na Na Na Na Na Na Het;G>T 433;7|15 Het;G>T 77;8|4 Hom;G>T 423;0|15 N N - 12 122989235 122989235 A C snp UTR3 *839T>G RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs4758660 0.428514 0 0 1 0 0 UTR3 UTR3 UTR3 RSRC2(NM_023012:c.*839T>G) RSRC2(uc001uco.3:c.*839T>G,uc001ucp.3:c.*839T>G,uc001uct.3:c.*839T>G,uc001ucr.3:c.*839T>G) ENSG00000111011(ENST00000331738:c.*839T>G) Na Na Na Na Na Na Het;A>C 425;10|16 Ref Hom;A>C 726;0|22 N N - 12 122989412 122989412 G A snp UTR3 *662C>T RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs10998 0.823882 0 0 1 0 0 UTR3 UTR3 UTR3 RSRC2(NM_023012:c.*662C>T) RSRC2(uc001uco.3:c.*662C>T,uc001ucp.3:c.*662C>T,uc001uct.3:c.*662C>T,uc001ucr.3:c.*662C>T) ENSG00000111011(ENST00000331738:c.*662C>T,ENST00000354654:c.*662C>T) Na Na Na Na Na Na Het;G>A 1381;58|64 Het;G>A 1672;60|73 Hom;G>A 4306;0|153 N N - 12 122990369 122990369 C A snp intronic RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs2133557 0.585064 0 0 1 0 0 intronic intronic intronic RSRC2 RSRC2 ENSG00000111011 Na Na Na Na Na Na Het;C>A 43;2|2 Ref Hom;C>A 199;0|6 N N - 12 122991478 122991478 C G snp intronic RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs9988963 0.817692 0.7865 0.7622 1 0 0 intronic intronic intronic RSRC2 RSRC2 ENSG00000111011 Na Na Na Na Na Na Het;C>G 1050;69|52 Het;C>G 1441;52|66 Hom;C>G 2583;0|91 N N - 12 122993011 122993011 C T snp intronic RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs10773230 0.427915 0.4628 0.5380 1 0 0 intronic intronic intronic RSRC2 RSRC2 ENSG00000111011 Na Na Na Na Na Na Het;C>T 519;19|21 Ref Hom;C>T 1185;0|38 N N - 12 122999535 122999535 C T snp intronic RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs6489056 0.444888 0 0 1 0 0 intronic intronic intronic RSRC2 RSRC2 ENSG00000111011 Na Na Na Na Na Na Het;C>T 192;3|7 Ref Hom;C>T 342;0|10 N N - 12 123001737 123001737 G A snp intronic RSRC2 Rsrc2 ENSG00000111011 arginine and serine rich coiled-coil 2 chr12:122989190-123011547 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSRC2 https://www.uniprot.org/uniprot/Q7L4I2 http://www.informatics.jax.org/searchtool/Search.do?query=RSRC2&submit=Quick%0D%4020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSRC2 rs1599748 0.426518 0.4639 0.5108 1 0 0 intronic intronic intronic RSRC2 RSRC2 ENSG00000111011 Na Na Na Na Na Na Het;G>A 338;24|13 Ref Hom;G>A 1320;0|47 N N - 12 123079035 123079035 A G snp intronic KNTC1 Kntc1 ENSG00000184445 kinetochore associated 1 chr12:123011793-123110943 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008] Narcolepsy; Tobacco Use Disorder; Adiponectin Mice have a kinked tail. Mitotic Prometaphase GO:0006461;protein complex assembly;NAS|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007096;regulation of exit from mitosis;NAS|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:1990423;RZZ complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KNTC1 https://www.ncbi.nlm.nih.gov/omim/?term=607363 http://www.informatics.jax.org/searchtool/Search.do?query=KNTC1&submit=Quick%0D%15208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KNTC1 rs4319547 0.820887 0 0 1 0 0 intronic intronic intronic KNTC1 KNTC1 ENSG00000184445 Na Na Na Na Na Na Het;A>G 928;25|23 Het;A>G 918;34|22 Hom;A>G 1204;0|33 N N - 12 123087442 123087442 A G snp intronic KNTC1 Kntc1 ENSG00000184445 kinetochore associated 1 chr12:123011793-123110943 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008] Narcolepsy; Tobacco Use Disorder; Adiponectin Mice have a kinked tail. Mitotic Prometaphase GO:0006461;protein complex assembly;NAS|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007096;regulation of exit from mitosis;NAS|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005828;kinetochore microtubule;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IDA|GO:1990423;RZZ complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KNTC1 https://www.ncbi.nlm.nih.gov/omim/?term=607363 http://www.informatics.jax.org/searchtool/Search.do?query=KNTC1&submit=Quick%0D%15208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KNTC1 rs7307735 0.80012 0.7655 0.7491 1 0 0 intronic intronic intronic KNTC1 KNTC1 ENSG00000184445 Na Na Na Na Na Na Het;A>G 627;47|29 Het;A>G 712;31|35 Hom;A>G 1575;1|60 N N - 12 123200247 123200247 G C snp nonsynonymous SNV C1038G I346M aliphatic,hydrophobic,neutral hydrophobic,neutral HCAR3 ENSG00000255398 hydroxycarboxylic acid receptor 3 chr12:123199303-123201439 Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid. G alpha (i) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/HCAR3 https://www.ncbi.nlm.nih.gov/omim/?term=606039 http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3 rs1696351 0.895966 0.9437 0.9125 0.09 1 11 exonic exonic exonic HCAR3 HCAR3 ENSG00000255398 nonsynonymous SNV nonsynonymous SNV unknown HCAR3:NM_006018:exon1:c.C1038G:p.I346M, HCAR3:uc001ucy.4:exon1:c.C1038G:p.I346M, UNKNOWN Het;G>C 1677;129|79 Het;G>C 1321;97|66 Hom;G>C 3310;0|119 N N - 12 123265952 123265952 A G snp intronic CCDC62 Ccdc62 ENSG00000130783 coiled-coil domain containing 62 chr12:123258874-123312075 Parkinson's disease; Parkinson Disease Homozygotes for an ENU-induced mutation or a deletion knockout exhibit male reproductive abnormalities including infertility, low sperm count, abnormal sperm head and tail morphology, very low sperm motility, and low seminal vesicle weight. GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0071392;cellular response to estradiol stimulus;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA GO:0030331;estrogen receptor binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC62 https://www.uniprot.org/uniprot/Q6P9F0 https://www.ncbi.nlm.nih.gov/omim/?term=613481 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC62&submit=Quick%0D%6445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC62 rs1798563 0.902157 0 0 1 0 0 intronic intronic intronic CCDC62 CCDC62 ENSG00000130783 Na Na Na Na Na Na Het;A>G 151;6|5 Het;A>G 151;4|5 Hom;A>G 385;0|10 N N - 12 123921349 123921349 A G snp upstream RILPL2 Rilpl2 ENSG00000150977 Rab interacting lysosomal protein like 2 chr12:123899936-123921264 This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] GO:0003382;epithelial cell morphogenesis;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0060271;cilium assembly;IBA|GO:1903445;protein transport from ciliary membrane to plasma membrane;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0036064;ciliary basal body;IBA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0031267;small GTPase binding;IBA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA|GO:0051959;dynein light intermediate chain binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RILPL2 https://www.uniprot.org/uniprot/Q969X0 https://www.ncbi.nlm.nih.gov/omim/?term=614093 http://www.informatics.jax.org/searchtool/Search.do?query=RILPL2&submit=Quick%0D%9363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RILPL2 rs1706476 0.699481 0 0 1 0 0 upstream upstream upstream RILPL2 RILPL2 ENSG00000150977 Na Na Na Na Na Na Het;A>G 367;21|19 Het;A>G 234;22|12 Hom;A>G 1400;0|52 N N - 12 123983941 123983941 G A snp intronic RILPL1 Rilpl1 ENSG00000188026 Rab interacting lysosomal protein like 1 chr12:123955925-124018265 Blood Pressure GO:0003382;epithelial cell morphogenesis;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0060271;cilium assembly;IBA|GO:1901214;regulation of neuron death;IEA|GO:1903445;protein transport from ciliary membrane to plasma membrane;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IBA|GO:0042995;cell projection;IEA GO:0031267;small GTPase binding;IBA|GO:0046983;protein dimerization activity;IEA|GO:0051959;dynein light intermediate chain binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RILPL1 https://www.ncbi.nlm.nih.gov/omim/?term=614092 http://www.informatics.jax.org/searchtool/Search.do?query=RILPL1&submit=Quick%0D%15949ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RILPL1 rs9697264 0.376398 0.4758 0.3864 1 0 0 intronic intronic intronic RILPL1 RILPL1 ENSG00000188026 Na Na Na Na Na Na Het;G>A 1076;42|46 Het;G>A 1235;31|51 Hom;G>A 2026;2|74 N N - 12 124069111 124069114 GGGC G indel ncRNA_exonic AC055713.1 rs398056033 0 0 0 1 0 0 UTR5 UTR5 ncRNA_exonic TMED2(NM_006815:c.-73_-70delinsG) TMED2(uc001ufg.3:c.-73_-70delinsG) ENSG00000247373 Na Na Na Na Na Na Het;-GGC 1086;21|30 Het;-GGC 450;20|14 Hom;-GGC 1181;0|28 N N - 12 124207098 124207098 T C snp intronic ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs7301641 0.750998 0 0 1 0 0 intronic intronic intronic ATP6V0A2 ATP6V0A2 ENSG00000185344 Na Na Na Na Na Na Het;T>C 225;9|7 Ref Hom;T>C 623;0|17 N N - 12 124209332 124209332 T C snp synonymous SNV T426C N142N polar,hydrophilic,neutral polar,hydrophilic,neutral ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs1139789 0.750998 0.6466 0.6792 1 0 0 exonic exonic exonic ATP6V0A2 ATP6V0A2 ENSG00000185344 synonymous SNV synonymous SNV unknown ATP6V0A2:NM_012463:exon4:c.T426C:p.N142N, ATP6V0A2:uc001ufr.3:exon4:c.T426C:p.N142N,ATP6V0A2:uc001ufq.1:exon4:c.T426C:p.N142N, UNKNOWN Het;T>C 1392;20|39 Ref Hom;T>C 1281;0|32 N N - 12 124209352 124209352 C T snp intronic ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs11837144 0.7498 0.6399 0.6756 1 0 0 intronic intronic intronic ATP6V0A2 ATP6V0A2 ENSG00000185344 Na Na Na Na Na Na Het;C>T 1202;17|30 Ref Hom;C>T 1115;0|27 N N - 12 124210782 124210782 T C snp synonymous SNV T471C S157S polar,hydrophilic,neutral polar,hydrophilic,neutral ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs1399961 0.7498 0.6399 0.6756 1 0 0 exonic exonic exonic ATP6V0A2 ATP6V0A2 ENSG00000185344 synonymous SNV synonymous SNV unknown ATP6V0A2:NM_012463:exon5:c.T471C:p.S157S, ATP6V0A2:uc001ufr.3:exon5:c.T471C:p.S157S,ATP6V0A2:uc001ufq.1:exon5:c.T471C:p.S157S, UNKNOWN Het;T>C 865;58|42 Ref Hom;T>C 2291;2|92 N N - 12 124218359 124218359 T G snp intronic ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs10744159 0.75 0 0 1 0 0 intronic intronic intronic ATP6V0A2 ATP6V0A2 ENSG00000185344 Na Na Na Na Na Na Het;T>G 259;21|11 Ref Hom;T>G 553;0|15 N N - 12 124219910 124219910 T C snp intronic ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs2271661 0.679712 0 0 1 0 0 intronic intronic intronic ATP6V0A2 ATP6V0A2 ENSG00000185344 Na Na Na Na Na Na Het;T>C 169;9|6 Ref Hom;T>C 186;0|5 N N - 12 124220055 124220055 T C snp intronic ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs2271660 0.679912 0.5715 0.6415 1 0 0 intronic intronic intronic ATP6V0A2 ATP6V0A2 ENSG00000185344 Na Na Na Na Na Na Het;T>C 2099;77|90 Ref Hom;T>C 4580;2|166 N N - 12 124228200 124228201 CA C indel intronic ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs10715944 0.66234 0 0 1 0 0 intronic intronic intronic ATP6V0A2 ATP6V0A2 ENSG00000185344 Na Na Na Na Na Na Het;-A 97;9|7 Ref Hom;-A 93;0|5 N N - 12 124229429 124229429 T C snp synonymous SNV T1515C N505N polar,hydrophilic,neutral polar,hydrophilic,neutral ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs7135542 0.799521 0.6954 0.6934 1 0 0 exonic exonic exonic ATP6V0A2 ATP6V0A2 ENSG00000185344 synonymous SNV synonymous SNV unknown ATP6V0A2:NM_012463:exon13:c.T1515C:p.N505N, ATP6V0A2:uc001ufr.3:exon13:c.T1515C:p.N505N, UNKNOWN Het;T>C 2045;93|90 Ref Hom;T>C 3016;2|111 N N - 12 124243707 124243707 T C snp UTR3 *1128T>C ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs10744162 0.617612 0 0 1 0 0 UTR3 UTR3 UTR3 ATP6V0A2(NM_012463:c.*1128T>C) ATP6V0A2(uc001ufr.3:c.*1128T>C) ENSG00000185344(ENST00000330342:c.*1128T>C) Na Na Na Na Na Na Het;T>C 771;37|32 Ref Hom;T>C 2038;0|68 N N - 12 124244272 124244272 C G snp UTR3 *1693C>G ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs10846553 0.791534 0 0 1 0 0 UTR3 UTR3 UTR3 ATP6V0A2(NM_012463:c.*1693C>G) ATP6V0A2(uc001ufr.3:c.*1693C>G) ENSG00000185344(ENST00000330342:c.*1693C>G) Na Na Na Na Na Na Het;C>G 868;36|32 Ref Hom;C>G 2262;0|80 N N - 12 124246004 124246004 G A snp UTR3 *3425G>A ATP6V0A2 Atp6v0a2 ENSG00000185344 ATPase H+ transporting V0 subunit a2 chr12:124196865-124246302 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Adiponectin Ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006955;immune response;TAS|GO:0007035;vacuolar acidification;IBA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IEA|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0001669;acrosomal vesicle;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IBA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A2 https://hpo.jax.org/app/browse/search?q=ATP6V0A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611716 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A2&submit=Quick%0D%15400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A2 rs2333834 0.606629 0 0 1 0 0 UTR3 UTR3 UTR3 ATP6V0A2(NM_012463:c.*3425G>A) ATP6V0A2(uc001ufr.3:c.*3425G>A) ENSG00000185344(ENST00000330342:c.*3425G>A) Na Na Na Na Na Na Het;G>A 490;38|21 Ref Hom;G>A 1368;0|46 N N - 12 124857274 124857274 G A snp intronic NCOR2 Ncor2 ENSG00000196498 nuclear receptor corepressor 2 chr12:124808961-125052135 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] osteoarthritis; Neoplasms; Diabetic Nephropathies; hepatic CYP3A4 expression; Cholesterol, HDL; Socioeconomic Factors; thyroid cancer; Cognitive performance; Iron; Body Height; breast cancer ; HIV Infections|[X]Human immunodeficiency virus disease; bipolar disorder; plasma HDL cholesterol (HDL-C) levels; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007595;lactation;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032355;response to estradiol;IEA|GO:0044849;estrous cycle;IEA|GO:0072365;regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP GO:0000118;histone deacetylase complex;IBA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001012;RNA polymerase II regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=600848 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR2&submit=Quick%0D%16382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR2 rs4765147 0.332268 0 0 1 0 0 intronic intronic intronic NCOR2 NCOR2 ENSG00000196498 Na Na Na Na Na Na Het;G>A 241;10|9 Het;G>A 231;6|10 Hom;G>A 289;0|9 N N - 12 124979833 124979833 C G snp UTR5 -36G>C NCOR2 Ncor2 ENSG00000196498 nuclear receptor corepressor 2 chr12:124808961-125052135 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] osteoarthritis; Neoplasms; Diabetic Nephropathies; hepatic CYP3A4 expression; Cholesterol, HDL; Socioeconomic Factors; thyroid cancer; Cognitive performance; Iron; Body Height; breast cancer ; HIV Infections|[X]Human immunodeficiency virus disease; bipolar disorder; plasma HDL cholesterol (HDL-C) levels; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007595;lactation;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032355;response to estradiol;IEA|GO:0044849;estrous cycle;IEA|GO:0072365;regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP GO:0000118;histone deacetylase complex;IBA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001012;RNA polymerase II regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=600848 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR2&submit=Quick%0D%16382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR2 rs872224 0.446286 0.4122 0.5261 1 0 0 UTR5 UTR5 UTR5 NCOR2(NM_006312:c.-36G>C,NM_001206654:c.-36G>C,NM_001077261:c.-36G>C) NCOR2(uc010tbb.2:c.-36G>C,uc021rgc.1:c.-36G>C,uc010tbc.2:c.-36G>C,uc010tba.2:c.-36G>C,uc001ugj.1:c.-36G>C,uc001ugk.1:c.-36G>C) ENSG00000196498(ENST00000404621:c.-36G>C,ENST00000404121:c.-68628G>C,ENST00000397355:c.-36G>C,ENST00000356219:c.-36G>C,ENST00000429285:c.-36G>C,ENST00000458234:c.-36G>C,ENST00000420698:c.-36G>C) Na Na Na Na Na Na Het;C>G 647;45|28 Het;C>G 676;36|32 Hom;C>G 1633;3|62 N N - 12 125033839 125033839 G A snp intronic NCOR2 Ncor2 ENSG00000196498 nuclear receptor corepressor 2 chr12:124808961-125052135 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] osteoarthritis; Neoplasms; Diabetic Nephropathies; hepatic CYP3A4 expression; Cholesterol, HDL; Socioeconomic Factors; thyroid cancer; Cognitive performance; Iron; Body Height; breast cancer ; HIV Infections|[X]Human immunodeficiency virus disease; bipolar disorder; plasma HDL cholesterol (HDL-C) levels; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007595;lactation;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032355;response to estradiol;IEA|GO:0044849;estrous cycle;IEA|GO:0072365;regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP GO:0000118;histone deacetylase complex;IBA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001012;RNA polymerase II regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=600848 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR2&submit=Quick%0D%16382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR2 rs11057667 0.0267572 0 0 1 0 0 intronic intronic intronic NCOR2 NCOR2 ENSG00000196498 Na Na Na Na Na Na Het;G>A 54;8|3 Ref Hom;G>A 120;0|5 N N - 12 125179965 125179965 T C snp intergenic NCOR2 Ncor2 ENSG00000196498 nuclear receptor corepressor 2 chr12:124808961-125052135 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] osteoarthritis; Neoplasms; Diabetic Nephropathies; hepatic CYP3A4 expression; Cholesterol, HDL; Socioeconomic Factors; thyroid cancer; Cognitive performance; Iron; Body Height; breast cancer ; HIV Infections|[X]Human immunodeficiency virus disease; bipolar disorder; plasma HDL cholesterol (HDL-C) levels; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007595;lactation;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032355;response to estradiol;IEA|GO:0044849;estrous cycle;IEA|GO:0072365;regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP GO:0000118;histone deacetylase complex;IBA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001012;RNA polymerase II regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=600848 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR2&submit=Quick%0D%16382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR2 rs11057759 0.396366 0 0 1 0 0 intergenic intergenic intergenic NCOR2(dist=127955),SCARB1(dist=82209) NCOR2(dist=127955),SCARB1(dist=82209) ENSG00000196498(dist=127955),ENSG00000073060(dist=81437) Na Na Na Na Na Na Het;T>C 317;3|12 Ref Hom;T>C 255;0|10 N N - 12 125185579 125185579 G A snp intergenic NCOR2 Ncor2 ENSG00000196498 nuclear receptor corepressor 2 chr12:124808961-125052135 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] osteoarthritis; Neoplasms; Diabetic Nephropathies; hepatic CYP3A4 expression; Cholesterol, HDL; Socioeconomic Factors; thyroid cancer; Cognitive performance; Iron; Body Height; breast cancer ; HIV Infections|[X]Human immunodeficiency virus disease; bipolar disorder; plasma HDL cholesterol (HDL-C) levels; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007595;lactation;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032355;response to estradiol;IEA|GO:0044849;estrous cycle;IEA|GO:0072365;regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP GO:0000118;histone deacetylase complex;IBA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001012;RNA polymerase II regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOR2 https://www.ncbi.nlm.nih.gov/omim/?term=600848 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR2&submit=Quick%0D%16382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR2 rs12422288 0.282748 0 0 1 0 0 intergenic intergenic intergenic NCOR2(dist=133569),SCARB1(dist=76595) NCOR2(dist=133569),SCARB1(dist=76595) ENSG00000196498(dist=133569),ENSG00000073060(dist=75823) Na Na Na Na Na Na Het;G>A 237;3|7 Ref Hom;G>A 87;0|3 N N - 12 126036186 126036186 T TG indel intronic TMEM132B Tmem132b ENSG00000139364 transmembrane protein 132B chr12:125671382-126146917 Hip; Tobacco Use Disorder; Alcoholism; Forced Vital Capacity; Body Height; Echocardiography; Parkinson Disease; Carotid Artery Diseases; Osteoporosis GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132B https://www.uniprot.org/uniprot/Q14DG7 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132B&submit=Quick%0D%7879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132B rs11370036 0.697684 0 0 1 0 0 intronic intronic intronic TMEM132B TMEM132B ENSG00000139364 Na Na Na Na Na Na Het;+G 449;18|13 Het;+G 244;8|9 Hom;+G 1095;0|26 N N - 12 126239374 126239374 T C snp intergenic TMEM132B Tmem132b ENSG00000139364 transmembrane protein 132B chr12:125671382-126146917 Hip; Tobacco Use Disorder; Alcoholism; Forced Vital Capacity; Body Height; Echocardiography; Parkinson Disease; Carotid Artery Diseases; Osteoporosis GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132B https://www.uniprot.org/uniprot/Q14DG7 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132B&submit=Quick%0D%7879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132B rs10773202 0.468051 0 0 1 0 0 intergenic intergenic intergenic TMEM132B(dist=92451),LINC00939(dist=203860) AK094786(dist=92460),LINC00939(dist=203860) ENSG00000139364(dist=92457),ENSG00000271184(dist=145593) Na Na Na Na Na Na Het;T>C 935;38|41 Ref Hom;T>C 2422;0|86 N N - 12 126389216 126389216 A C snp intergenic TMEM132B Tmem132b ENSG00000139364 transmembrane protein 132B chr12:125671382-126146917 Hip; Tobacco Use Disorder; Alcoholism; Forced Vital Capacity; Body Height; Echocardiography; Parkinson Disease; Carotid Artery Diseases; Osteoporosis GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132B https://www.uniprot.org/uniprot/Q14DG7 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132B&submit=Quick%0D%7879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132B rs150916 0.364217 0 0 1 0 0 intergenic intergenic intergenic TMEM132B(dist=242293),LINC00939(dist=54018) AK094786(dist=242302),LINC00939(dist=54018) ENSG00000271184(dist=3187),ENSG00000249267(dist=54018) Na Na Na Na Na Na Het;A>C 343;20|18 Het;A>C 149;25|10 Hom;A>C 878;0|34 N N - 12 127645140 127645140 G T snp intergenic LOC101927592 rs10773367 0.307109 0 0 1 0 0 intergenic intergenic intergenic LOC101927592(dist=100198),LOC101927616(dist=163560) BC032874(dist=100198),FLJ37505(dist=721022) ENSG00000256001(dist=14063),ENSG00000239776(dist=5476) Na Na Na Na Na Na Het;G>T 33;2|2 Ref Hom;G>T 125;0|4 N N - 12 128108934 128108934 G A snp ncRNA_intronic AC025252.2 rs10847418 0.18151 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927616(dist=284317),LOC101927637(dist=6880) BC032874(dist=563992),FLJ37505(dist=257228) ENSG00000257035 Na Na Na Na Na Na Het;G>A 297;25|14 Het;G>A 330;16|15 Hom;G>A 939;0|33 N N - 12 128120679 128120679 C G snp ncRNA_intronic LOC101927637 rs7134464 0.444489 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927637 BC032874(dist=575737),FLJ37505(dist=245483) ENSG00000256022 Na Na Na Na Na Na Het;C>G 324;14|11 Het;C>G 372;10|14 Hom;C>G 71;0|4 N N - 12 128135756 128135764 GGTGACTAA G indel intergenic LOC101927637 rs3832823 0.167931 0 0 1 0 0 intergenic intergenic intergenic LOC101927637(dist=14744),FLJ37505(dist=230398) BC032874(dist=590814),FLJ37505(dist=230398) ENSG00000256022(dist=14744),ENSG00000256922(dist=142308) Na Na Na Na Na Na Het;-GTGACTAA 1341;44|37 Het;-GTGACTAA 1499;38|41 Hom;-GTGACTAA 2870;2|69 N N - 12 128382702 128382702 C T snp ncRNA_exonic FLJ37505 rs1463669 0.649361 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic FLJ37505 FLJ37505 ENSG00000256597(dist=15166),ENSG00000256193(dist=17215) Na Na Na Na Na Na Het;C>T 2208;100|92 Het;C>T 1940;87|79 Hom;C>T 4899;0|173 N N - 12 128418805 128418805 C T snp ncRNA_intronic LINC00507 rs2699048 0.921126 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00507,LINC00508 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;C>T 530;31|27 Het;C>T 417;33|21 Hom;C>T 1341;0|49 N N - 12 128433391 128433391 A G snp ncRNA_exonic LINC00507 rs7310922 0.634784 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;A>G 1928;105|80 Ref Hom;A>G 3678;0|128 N N - 12 128433698 128433698 T G snp ncRNA_intronic LINC00507 rs10083063 0.638578 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00507,LINC00508 LINC00507 ENSG00000256193,ENSG00000256971 Na Na Na Na Na Na Het;T>G 153;9|6 Ref Hom;T>G 147;0|5 N N - 12 128434486 128434486 A C snp ncRNA_intronic LINC00507 rs10744342 0.634784 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00507,LINC00508 LINC00507 ENSG00000256193,ENSG00000256971 Na Na Na Na Na Na Het;A>C 212;18|10 Ref Hom;A>C 613;0|19 N N - 12 128434743 128434743 G A snp ncRNA_exonic LINC00507 rs10161546 0.648562 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;G>A 1820;112|82 Ref Hom;G>A 5026;2|182 N N - 12 128434798 128434798 C T snp ncRNA_exonic LINC00507 rs10161204 0.667532 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;C>T 1927;104|85 Ref Hom;C>T 4578;2|167 N N - 12 128434832 128434832 C T snp ncRNA_exonic LINC00507 rs10161207 0.667332 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;C>T 1993;95|83 Ref Hom;C>T 4184;1|149 N N - 12 128435050 128435050 C T snp ncRNA_exonic LINC00507 rs7968464 0.684904 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;C>T 1944;71|78 Ref Hom;C>T 5777;0|208 N N - 12 128435349 128435349 G A snp ncRNA_exonic LINC00507 rs7967991 0.498403 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;G>A 444;8|13 Ref Hom;G>A 1253;0|32 N N - 12 128435371 128435371 G A snp ncRNA_exonic LINC00507 rs7967999 0.653155 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;G>A 251;5|7 Ref Hom;G>A 870;0|19 N N - 12 128435676 128435676 A G snp ncRNA_exonic LINC00507 rs1844073 0.699481 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;A>G 423;40|23 Ref Hom;A>G 1895;0|69 N N - 12 128435779 128435779 C T snp ncRNA_exonic LINC00507 rs1488150 0.667532 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;C>T 291;23|17 Ref Hom;C>T 969;0|34 N N - 12 128435790 128435791 AG A indel ncRNA_exonic LINC00507 rs11310858 0.667532 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;-G 129;21|7 Ref Hom;-G 891;0|26 N N - 12 128435814 128435814 A G snp ncRNA_exonic LINC00507 rs1488149 0.635783 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;A>G 155;19|7 Ref Hom;A>G 706;0|22 N N - 12 128435979 128435979 C A snp ncRNA_exonic LINC00507 rs7972418 0.667532 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00507 LINC00507 ENSG00000256193 Na Na Na Na Na Na Het;C>A 71;8|5 Ref Hom;C>A 211;0|9 N N - 12 128656569 128656569 C CA indel intergenic LOC101927694 rs142224725 0.346845 0 0 1 0 0 intergenic intergenic intergenic LOC101927694(dist=50072),MIR4419B(dist=72482) LINC00507(dist=220472),TMEM132C(dist=95379) ENSG00000256659(dist=50072),ENSG00000265061(dist=72482) Na Na Na Na Na Na Het;+A 122;9|7 Ref Hom;+A 110;0|5 N N - 12 129189556 129189556 T C snp intronic TMEM132C Tmem132c ENSG00000181234 transmembrane protein 132C chr12:128751948-129192460 Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C rs902061 0.495208 0 0 1 0 0 intronic intronic intronic TMEM132C TMEM132C ENSG00000181234 Na Na Na Na Na Na Het;T>C 369;16|12 Het;T>C 68;6|3 Hom;T>C 479;0|15 N N - 12 129189941 129189941 G A snp nonsynonymous SNV G2428A G810R aliphatic,neutral polar,hydrophilic,charged(+) TMEM132C Tmem132c ENSG00000181234 transmembrane protein 132C chr12:128751948-129192460 Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C rs12424159 0.488219 0.4682 0.5527 0.08 1 13 exonic exonic exonic TMEM132C TMEM132C ENSG00000181234 nonsynonymous SNV nonsynonymous SNV unknown TMEM132C:NM_001136103:exon9:c.G2428A:p.G810R, TMEM132C:uc021rgn.1:exon9:c.G2428A:p.G810R, UNKNOWN Het;G>A 1236;75|56 Het;G>A 2138;94|97 Hom;G>A 4088;0|147 N N - 12 129190474 129190474 G A snp synonymous SNV G2961A A987A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM132C Tmem132c ENSG00000181234 transmembrane protein 132C chr12:128751948-129192460 Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C rs3812792 0.485823 0.4700 0.5599 1 0 0 exonic exonic exonic TMEM132C TMEM132C ENSG00000181234 synonymous SNV synonymous SNV unknown TMEM132C:NM_001136103:exon9:c.G2961A:p.A987A, TMEM132C:uc021rgn.1:exon9:c.G2961A:p.A987A, UNKNOWN Het;G>A 2463;108|107 Het;G>A 2524;92|115 Hom;G>A 6666;1|247 N N - 12 129269244 129269244 T G snp intergenic TMEM132C Tmem132c ENSG00000181234 transmembrane protein 132C chr12:128751948-129192460 Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C rs7133440 0.408147 0 0 1 0 0 intergenic intergenic intergenic TMEM132C(dist=76784),SLC15A4(dist=8495) TMEM132C(dist=76784),SLC15A4(dist=8495) ENSG00000181234(dist=76784),ENSG00000139370(dist=8495) Na Na Na Na Na Na Het;T>G 73;5|6 Ref Hom;T>G 170;0|8 N N - 12 129467707 129467707 A G snp UTR3 *602A>G GLT1D1 Glt1d1 ENSG00000151948 glycosyltransferase 1 domain containing 1 chr12:129337972-129469509 Myocardial Infarction; Tobacco Use Disorder; Monocytes GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLT1D1 https://www.uniprot.org/uniprot/Q96MS3 http://www.informatics.jax.org/searchtool/Search.do?query=GLT1D1&submit=Quick%0D%9491ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT1D1 rs35993969 0.107827 0 0 1 0 0 UTR3 UTR3 UTR3 GLT1D1(NM_144669:c.*72A>G) GLT1D1(uc001uhx.1:c.*72A>G,uc010tbh.1:c.*72A>G) ENSG00000151948(ENST00000441390:c.*602A>G,ENST00000442111:c.*72A>G,ENST00000281703:c.*72A>G,ENST00000413816:c.*732A>G,ENST00000542193:c.*72A>G,ENST00000537468:c.*72A>G) Na Na Na Na Na Na Het;A>G 1400;89|59 Ref Hom;A>G 3279;0|112 N N - 12 129597945 129597945 C T snp intronic TMEM132D Tmem132d ENSG00000151952 transmembrane protein 132D chr12:129556270-130388211 Asthma; Celiac Disease|; Type 2 Diabetes| edema | rosiglitazone; Neuropsychological Tests; Myocardial Infarction; Glucose; Tobacco Use Disorder; Cholesterol; Tunica Media GO:0010923;negative regulation of phosphatase activity;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM132D https://www.uniprot.org/uniprot/Q14C87 https://www.ncbi.nlm.nih.gov/omim/?term=611257 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132D&submit=Quick%0D%9492ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132D rs58421809 0.186102 0 0 1 0 0 intronic intronic intronic TMEM132D TMEM132D ENSG00000151952 Na Na Na Na Na Na Het;C>T 170;5|6 Ref Hom;C>T 162;0|5 N N - 12 130519164 130519184 TTCCTGGTCCCATGCTGATCC T indel ncRNA_exonic LOC100190940 rs140075520 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100190940 LOC100190940 ENSG00000214039 Na Na Na Na Na Na Het;-TCCTGGTCCCATGCTGATCC 863;53|26 Het;-TCCTGGTCCCATGCTGATCC 869;37|24 Hom;-TCCTGGTCCCATGCTGATCC 2893;0|66 N N - 12 130520715 130520715 C T snp ncRNA_exonic LOC100190940 rs4323914 0.375998 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100190940 LOC100190940 ENSG00000214039 Na Na Na Na Na Na Het;C>T 1799;96|77 Het;C>T 1916;64|82 Hom;C>T 4717;0|166 N N - 12 130521184 130521184 G A snp ncRNA_exonic LOC100190940 rs611963 0.588259 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100190940 LOC100190940 ENSG00000214039 Na Na Na Na Na Na Het;G>A 74;8|3 Ref Hom;G>A 228;0|5 N N - 12 130640207 130640207 C G snp ncRNA_exonic FZD10-AS1 rs7295959 0.602636 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FZD10-AS1 FZD10-AS1 ENSG00000250208 Na Na Na Na Na Na Het;C>G 1415;53|57 Het;C>G 1091;49|46 Hom;C>G 3573;2|120 N N - 12 131696683 131696683 T TCA indel ncRNA_intronic LOC116437 rs56328054 0.741414 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01257 LOC116437 ENSG00000204603 Na Na Na Na Na Na Het;+CA 247;3|8 Het;+CA 201;1|7 Hom;+CA 633;0|18 N N - 12 132402020 132402020 T C snp synonymous SNV T2247C P749P hydrophobic,neutral hydrophobic,neutral ULK1 Ulk1 ENSG00000177169 unc-51 like autophagy activating kinase 1 chr12:132379196-132407712 Null homozygotes have blood defects including an increase in mean corpuscular volume and the presence of red blood cells that contain mitochondria. Receptor Mediated Mitophagy GO:0006468;protein phosphorylation;NAS|GO:0006914;autophagy;IDA|GO:0007165;signal transduction;IEA|GO:0007409;axonogenesis;IEA|GO:0008104;protein localization;IMP|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0031102;neuron projection regeneration;IEA|GO:0031175;neuron projection development;IMP|GO:0031333;negative regulation of protein complex assembly;IDA|GO:0031669;cellular response to nutrient levels;ISS|GO:0042594;response to starvation;ISS|GO:0046777;protein autophosphorylation;IDA|GO:0048675;axon extension;IBA|GO:0061024;membrane organization;TAS GO:0000407;pre-autophagosomal structure;IEA|GO:0005737;cytoplasm;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005776;autophagosome;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0032045;guanyl-nucleotide exchange factor complex;IDA|GO:0034045;pre-autophagosomal structure membrane;IDA|GO:0055037;recycling endosome;TAS|GO:0097629;extrinsic component of omegasome membrane;IDA|GO:0097632;extrinsic component of pre-autophagosomal structure membrane;IDA|GO:0097635;extrinsic component of autophagosome membrane;IDA|GO:1990316;ATG1/ULK1 kinase complex;IPI GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0032403;protein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ULK1 https://www.ncbi.nlm.nih.gov/omim/?term=603168 http://www.informatics.jax.org/searchtool/Search.do?query=ULK1&submit=Quick%0D%13980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK1 rs4964918 0.603435 0.6485 0.6328 1 0 0 exonic exonic exonic ULK1 ULK1 ENSG00000177169 synonymous SNV synonymous SNV unknown ULK1:NM_003565:exon22:c.T2247C:p.P749P, ULK1:uc001uje.3:exon22:c.T2247C:p.P749P, UNKNOWN Het;T>C 1545;36|65 Het;T>C 928;30|41 Hom;T>C 2024;0|63 N N - 12 132414769 132414769 G T snp intronic PUS1 Pus1 ENSG00000177192 pseudouridylate synthase 1 chr12:132413745-132428406 This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 1 Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, impaired exercise endurance, and alterations in muscle metabolism related to mitochondrial content and oxidative capacity. tRNA modification in the mitochondrion GO:0001522;pseudouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:0031119;tRNA pseudouridine synthesis;IBA|GO:0070902;mitochondrial tRNA pseudouridine synthesis;TAS|GO:1990481;mRNA pseudouridine synthesis;IBA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0003723;RNA binding;IDA|GO:0004730;pseudouridylate synthase activity;NAS|GO:0009982;pseudouridine synthase activity;EXP|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PUS1 https://hpo.jax.org/app/browse/search?q=PUS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608109 http://www.informatics.jax.org/searchtool/Search.do?query=PUS1&submit=Quick%0D%13987ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS1 rs10902480 0.783347 0 0 1 0 0 intronic intronic intronic PUS1 PUS1 ENSG00000177192 Na Na Na Na Na Na Het;G>T 243;12|11 Het;G>T 223;6|12 Hom;G>T 568;0|23 N N - 12 132682189 132682189 A G snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs11246983 0.724241 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;A>G 275;2|8 Ref Hom;A>G 155;0|6 N N - 12 132682207 132682207 G C snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs11246984 0.741214 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;G>C 216;2|7 Ref Hom;G>C 152;0|6 N N - 12 132683690 132683690 G A snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs4074046 0.400359 0.4557 0.4657 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;G>A 833;35|41 Het;G>A 620;40|30 Hom;G>A 1638;0|59 N N - 12 132685566 132685566 C T snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs7953158 0.51278 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;C>T 418;9|14 Het;C>T 387;6|13 Hom;C>T 663;0|21 N N - 12 132685826 132685826 T C snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs11246988 0.551318 0.6092 0.5692 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;T>C 1724;85|75 Het;T>C 1489;70|70 Hom;T>C 2801;1|105 N N - 12 132685899 132685899 G C snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs11246989 0.553115 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;G>C 873;27|34 Het;G>C 442;30|16 Hom;G>C 868;0|26 N N - 12 132685940 132685940 A AGGCCCCATCC indel intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs397948123 0 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;+GGCCCCATCC 542;10|15 Het;+GGCCCCATCC 100;10|3 Hom;+GGCCCCATCC 277;0|7 N N - 12 132685953 132685953 T G snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs59310537 0.552716 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;T>G 351;10|11 Het;T>G 139;10|6 Hom;T>G 203;0|7 N N - 12 132685958 132685958 A ACC indel intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs35906641 0.505591 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;+CC 204;8|7 Het;+CC 155;8|6 Hom;+CC 168;0|5 N N - 12 132688137 132688137 A G snp synonymous SNV T78C Y26Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs7486927 0.569289 0.6214 0.5748 1 0 0 exonic exonic exonic GALNT9 GALNT9 ENSG00000182870 synonymous SNV synonymous SNV unknown GALNT9:NM_021808:exon3:c.T78C:p.Y26Y,GALNT9:NM_001122636:exon7:c.T1176C:p.Y392Y, GALNT9:uc009zyr.3:exon4:c.T498C:p.Y166Y,GALNT9:uc001ukc.4:exon7:c.T1176C:p.Y392Y,GALNT9:uc001uka.3:exon3:c.T78C:p.Y26Y,GALNT9:uc001ukb.3:exon6:c.T747C:p.Y249Y, UNKNOWN Het;A>G 2669;113|123 Het;A>G 2628;101|124 Hom;A>G 6332;2|237 N N - 12 132839265 132839265 A G snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs28431148 0.666733 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;A>G 681;34|28 Het;A>G 392;41|16 Hom;A>G 893;0|31 N N - 12 132898571 132898571 A C snp intronic GALNT9 Galnt9 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 chr12:132680924-132905935 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;NAS|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT9 https://www.ncbi.nlm.nih.gov/omim/?term=606251 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT9&submit=Quick%0D%14869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT9 rs28410680 0.690495 0 0 1 0 0 intronic intronic intronic GALNT9 GALNT9 ENSG00000182870 Na Na Na Na Na Na Het;A>C 39;4|3 Ref Hom;A>C 95;0|4 N N - 12 133212382 133212382 G A snp intronic POLE Pole ENSG00000177084 DNA polymerase epsilon, catalytic subunit chr12:133200348-133263951 This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] multiple sclerosis; Narcolepsy; Graft vs Host Disease; Hematologic Neoplasms; breast cancer; lung cancer; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. Activation of the pre-replicative complex GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0006272;leading strand elongation;IBA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006297;nucleotide-excision repair, DNA gap filling;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0045004;DNA replication proofreading;IBA|GO:0048568;embryonic organ development;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0008622;epsilon DNA polymerase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLE https://hpo.jax.org/app/browse/search?q=POLE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=174762 http://www.informatics.jax.org/searchtool/Search.do?query=POLE&submit=Quick%0D%13965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE rs5744993 0.126797 0 0 1 0 0 intronic intronic intronic POLE POLE ENSG00000177084 Na Na Na Na Na Na Het;G>A 157;10|6 Het;G>A 283;3|12 Hom;G>A 290;1|12 N N - 12 133253310 133253310 A G snp intronic POLE Pole ENSG00000177084 DNA polymerase epsilon, catalytic subunit chr12:133200348-133263951 This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] multiple sclerosis; Narcolepsy; Graft vs Host Disease; Hematologic Neoplasms; breast cancer; lung cancer; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. Activation of the pre-replicative complex GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0006272;leading strand elongation;IBA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006297;nucleotide-excision repair, DNA gap filling;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0045004;DNA replication proofreading;IBA|GO:0048568;embryonic organ development;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0008622;epsilon DNA polymerase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLE https://hpo.jax.org/app/browse/search?q=POLE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=174762 http://www.informatics.jax.org/searchtool/Search.do?query=POLE&submit=Quick%0D%13965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE rs5744757 0.432109 0 0 1 0 0 intronic intronic intronic POLE POLE ENSG00000177084 Na Na Na Na Na Na Het;A>G 367;22|16 Het;A>G 430;18|16 Hom;A>G 728;0|25 N N - 12 133254083 133254083 T C snp intronic POLE Pole ENSG00000177084 DNA polymerase epsilon, catalytic subunit chr12:133200348-133263951 This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] multiple sclerosis; Narcolepsy; Graft vs Host Disease; Hematologic Neoplasms; breast cancer; lung cancer; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. Activation of the pre-replicative complex GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0006272;leading strand elongation;IBA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006297;nucleotide-excision repair, DNA gap filling;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0045004;DNA replication proofreading;IBA|GO:0048568;embryonic organ development;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0008622;epsilon DNA polymerase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLE https://hpo.jax.org/app/browse/search?q=POLE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=174762 http://www.informatics.jax.org/searchtool/Search.do?query=POLE&submit=Quick%0D%13965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE rs5744750 0.435503 0.5153 0 1 0 0 intronic intronic intronic POLE POLE ENSG00000177084 Na Na Na Na Na Na Het;T>C 711;52|29 Het;T>C 994;51|40 Hom;T>C 2128;0|71 N N - 12 133263825 133263825 G A snp intronic POLE Pole ENSG00000177084 DNA polymerase epsilon, catalytic subunit chr12:133200348-133263951 This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] multiple sclerosis; Narcolepsy; Graft vs Host Disease; Hematologic Neoplasms; breast cancer; lung cancer; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Lymphocytic, Chronic, B-Cell; bladder cancer Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. Activation of the pre-replicative complex GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0006272;leading strand elongation;IBA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006297;nucleotide-excision repair, DNA gap filling;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0045004;DNA replication proofreading;IBA|GO:0048568;embryonic organ development;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0008622;epsilon DNA polymerase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IDA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLE https://hpo.jax.org/app/browse/search?q=POLE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=174762 http://www.informatics.jax.org/searchtool/Search.do?query=POLE&submit=Quick%0D%13965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLE rs2075784 0.378794 0 0.4901 1 0 0 intronic intronic intronic POLE POLE ENSG00000177084 Na Na Na Na Na Na Het;G>A 288;23|17 Het;G>A 161;19|10 Hom;G>A 1045;0|41 N N - 12 133264332 133264332 C T snp synonymous SNV C76T L26L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PXMP2 Pxmp2 ENSG00000176894 peroxisomal membrane protein 2 chr12:133264192-133297276 Mice homozygous for a null mutation display impaired lactation, increased serum urate levels, elevated urinary clearence of urate, and abnormal liver peroxisomal membrane permeability. Glyoxylate metabolism and glycine degradation GO:0008150;biological_process;ND GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PXMP2 https://www.ncbi.nlm.nih.gov/omim/?term=617399 http://www.informatics.jax.org/searchtool/Search.do?query=PXMP2&submit=Quick%0D%13926ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PXMP2 rs11538534 0.389776 0 0.5870 1 0 0 exonic exonic exonic PXMP2 PXMP2 ENSG00000176894 synonymous SNV synonymous SNV unknown PXMP2:NM_018663:exon1:c.C76T:p.L26L, PXMP2:uc001ukt.3:exon1:c.C76T:p.L26L, UNKNOWN Het;C>T 306;12|15 Het;C>T 218;14|10 Hom;C>T 530;0|20 N N - 12 133272380 133272380 G C snp intronic PXMP2 Pxmp2 ENSG00000176894 peroxisomal membrane protein 2 chr12:133264192-133297276 Mice homozygous for a null mutation display impaired lactation, increased serum urate levels, elevated urinary clearence of urate, and abnormal liver peroxisomal membrane permeability. Glyoxylate metabolism and glycine degradation GO:0008150;biological_process;ND GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PXMP2 https://www.ncbi.nlm.nih.gov/omim/?term=617399 http://www.informatics.jax.org/searchtool/Search.do?query=PXMP2&submit=Quick%0D%13926ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PXMP2 rs10781627 0.415735 0 0 1 0 0 intronic intronic intronic PXMP2 PXMP2 ENSG00000176894,ENSG00000256632 Na Na Na Na Na Na Het;G>C 381;21|14 Het;G>C 193;19|9 Hom;G>C 606;0|19 N N - 12 133353064 133353064 G A snp intronic GOLGA3 Golga3 ENSG00000090615 golgin A3 chr12:133345495-133405444 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010] Tobacco Use Disorder; Coronary Artery Disease Males homozygous for a hypomorphic transgenic insertional mutation exhibit impaired spermatogenesis involving loss of pachytene spermatocytes and are usually sterile. Male mice homozygous for an ENU-induced mutation exhibit infertility with low sperm concentration, poor motility and abnormal shape. GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007283;spermatogenesis;IEA GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0017119;Golgi transport complex;IDA|GO:0032580;Golgi cisterna membrane;IEA|GO:0090498;extrinsic component of Golgi membrane;IDA GO:0005215;transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GOLGA3 https://www.uniprot.org/uniprot/Q08378 https://www.ncbi.nlm.nih.gov/omim/?term=602581 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA3&submit=Quick%0D%2112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA3 rs147191860 0 0 0 1 0 0 intronic intronic intronic GOLGA3 GOLGA3 ENSG00000090615 Na Na Na Na Na Na Het;G>A 129;6|6 Ref Hom;G>A 456;0|13 N N - 12 1589868 1589868 T TGAA indel intronic ERC1 Erc1 ENSG00000283017 ELKS/RAB6-interacting/CAST family member 1 chr12:1099675-1605099 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ERC1 https://www.uniprot.org/uniprot/Q8IUD2 https://www.ncbi.nlm.nih.gov/omim/?term=607127 http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1 rs111377772 0.425319 0 0 1 0 0 intronic intronic intronic ERC1 ERC1 ENSG00000082805 Na Na Na Na Na Na Het;+GAA 35;4|2 Het;+GAA 32;5|2 Hom;+GAA 187;0|4 N N - 12 1589914 1589914 T C snp intronic ERC1 Erc1 ENSG00000283017 ELKS/RAB6-interacting/CAST family member 1 chr12:1099675-1605099 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ERC1 https://www.uniprot.org/uniprot/Q8IUD2 https://www.ncbi.nlm.nih.gov/omim/?term=607127 http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1 rs7315390 0.408746 0 0 1 0 0 intronic intronic intronic ERC1 ERC1 ENSG00000082805 Na Na Na Na Na Na Het;T>C 270;7|10 Het;T>C 164;12|8 Hom;T>C 270;0|8 N N - 12 1590013 1590013 C T snp nonsynonymous SNV C3218T P1073L hydrophobic,neutral aliphatic,hydrophobic,neutral ERC1 Erc1 ENSG00000283017 ELKS/RAB6-interacting/CAST family member 1 chr12:1099675-1605099 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ERC1 https://www.uniprot.org/uniprot/Q8IUD2 https://www.ncbi.nlm.nih.gov/omim/?term=607127 http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1 rs11613546 0.289736 0 0.3107 0.22 2 9 exonic exonic exonic ERC1 ERC1 ENSG00000082805 nonsynonymous SNV nonsynonymous SNV unknown ERC1:NM_001301248:exon18:c.C3218T:p.P1073L, ERC1:uc001qjf.2:exon18:c.C3218T:p.P1073L, UNKNOWN Het;C>T 920;56|42 Het;C>T 749;34|36 Hom;C>T 1428;0|55 N N - 12 1590069 1590069 G A snp intronic ERC1 Erc1 ENSG00000283017 ELKS/RAB6-interacting/CAST family member 1 chr12:1099675-1605099 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Tobacco Use Disorder; Alcoholism; Blood Coagulation Factors; Body Weight; Body Mass Index; Waist Circumference Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006810;transport;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;ISS|GO:0043066;negative regulation of apoptotic process;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IEA|GO:0042734;presynaptic membrane;TAS|GO:0045202;synapse;ISS|GO:0048786;presynaptic active zone;IEA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;ISS|GO:0030165;PDZ domain binding;ISS|GO:0043522;leucine zipper domain binding;NAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ERC1 https://www.uniprot.org/uniprot/Q8IUD2 https://www.ncbi.nlm.nih.gov/omim/?term=607127 http://www.informatics.jax.org/searchtool/Search.do?query=ERC1&submit=Quick%0D%22669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERC1 rs11609462 0.375799 0 0.3152 1 0 0 intronic intronic intronic ERC1 ERC1 ENSG00000082805 Na Na Na Na Na Na Het;G>A 741;52|36 Het;G>A 455;29|25 Hom;G>A 1363;0|52 N N - 12 1612295 1612295 G A snp ncRNA_exonic LINC00942 rs7979032 0.377596 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00942 LINC00942 ENSG00000249628 Na Na Na Na Na Na Het;G>A 4298;188|194 Het;G>A 4124;169|185 Hom;G>A 10344;2|376 N N - 12 1613442 1613442 G A snp ncRNA_exonic LINC00942 rs11061789 0.385583 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic LINC00942 LINC00942 ENSG00000249628 Na Na Na Na Na Na Het;G>A 939;43|42 Het;G>A 765;49|39 Hom;G>A 2300;0|86 N N - 12 1613487 1613488 CG C indel ncRNA_exonic LINC00942 rs58197174 0.390974 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic LINC00942 LINC00942 ENSG00000249628 Na Na Na Na Na Na Het;-G 1214;44|44 Het;-G 1183;58|45 Hom;-G 3051;0|90 N N - 12 16239491 16239491 C T snp intergenic DERA Dera ENSG00000023697 deoxyribose-phosphate aldolase chr12:16064106-16190220 Kidney Diseases; Tobacco Use Disorder; Cholesterol, HDL Pentose phosphate pathway (hexose monophosphate shunt) GO:0006098;pentose-phosphate shunt;TAS|GO:0009264;deoxyribonucleotide catabolic process;IBA|GO:0016052;carbohydrate catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046121;deoxyribonucleoside catabolic process;IDA|GO:0046386;deoxyribose phosphate catabolic process;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004139;deoxyribose-phosphate aldolase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DERA https://www.uniprot.org/uniprot/Q9Y315 http://www.informatics.jax.org/searchtool/Search.do?query=DERA&submit=Quick%0D%687ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DERA rs2604251 0.668331 0 0 1 0 0 intergenic intergenic intergenic DERA(dist=49176),SLC15A5(dist=101928) DERA(dist=49176),SLC15A5(dist=101928) ENSG00000023697(dist=49271),ENSG00000188991(dist=101928) Na Na Na Na Na Na Het;C>T 88;7|4 Ref Hom;C>T 77;1|3 N N - 12 1991830 1991830 A G snp intronic CACNA2D4 Cacna2d4 ENSG00000151062 calcium voltage-gated channel auxiliary subunit alpha2delta 4 chr12:1901123-2028002 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Bipolar Disorder; Heart Rate; Echocardiography; Iron; Cholesterol; Night Blindness|Retinal Diseases; Cholesterol, LDL; Tobacco Use Disorder Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D4 https://www.uniprot.org/uniprot/Q7Z3S7 https://hpo.jax.org/app/browse/search?q=CACNA2D4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608171 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D4&submit=Quick%0D%9374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D4 rs68074245 0.365815 0 0 1 0 0 intronic intronic intronic CACNA2D4 CACNA2D4 ENSG00000151062 Na Na Na Na Na Na Het;A>G 36;4|2 Ref Hom;A>G 91;0|3 N N - 12 1993258 1993258 T C snp intronic CACNA2D4 Cacna2d4 ENSG00000151062 calcium voltage-gated channel auxiliary subunit alpha2delta 4 chr12:1901123-2028002 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Bipolar Disorder; Heart Rate; Echocardiography; Iron; Cholesterol; Night Blindness|Retinal Diseases; Cholesterol, LDL; Tobacco Use Disorder Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D4 https://www.uniprot.org/uniprot/Q7Z3S7 https://hpo.jax.org/app/browse/search?q=CACNA2D4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608171 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D4&submit=Quick%0D%9374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D4 rs12298882 0.366813 0 0 1 0 0 intronic intronic intronic CACNA2D4 CACNA2D4 ENSG00000151062 Na Na Na Na Na Na Het;T>C 121;2|4 Ref Hom;T>C 102;0|4 N N - 12 20893108 20893108 C T snp intronic SLCO1C1 Slco1c1 ENSG00000139155 solute carrier organic anion transporter family member 1C1 chr12:20848289-20906320 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Osteoporosis; height; depression; null Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1 https://www.uniprot.org/uniprot/Q9NYB5 https://www.ncbi.nlm.nih.gov/omim/?term=613389 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1 rs2271656 0.442292 0.4159 0.5374 1 0 0 intronic intronic intronic SLCO1C1 SLCO1C1 ENSG00000139155 Na Na Na Na Na Na Het;C>T 642;37|27 Het;C>T 719;25|25 Hom;C>T 2475;0|84 N N - 12 20893354 20893354 G C snp intronic SLCO1C1 Slco1c1 ENSG00000139155 solute carrier organic anion transporter family member 1C1 chr12:20848289-20906320 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Osteoporosis; height; depression; null Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1 https://www.uniprot.org/uniprot/Q9NYB5 https://www.ncbi.nlm.nih.gov/omim/?term=613389 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1 rs12368368 0.442093 0.4073 0.5374 1 0 0 intronic intronic intronic SLCO1C1 SLCO1C1 ENSG00000139155 Na Na Na Na Na Na Het;G>C 446;21|19 Het;G>C 552;23|22 Hom;G>C 1644;0|54 N N - 12 20903520 20903520 T C snp intronic SLCO1C1 Slco1c1 ENSG00000139155 solute carrier organic anion transporter family member 1C1 chr12:20848289-20906320 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Osteoporosis; height; depression; null Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1 https://www.uniprot.org/uniprot/Q9NYB5 https://www.ncbi.nlm.nih.gov/omim/?term=613389 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1 rs972507 0.476238 0 0 1 0 0 intronic intronic intronic SLCO1C1 SLCO1C1 ENSG00000139155 Na Na Na Na Na Na Het;T>C 230;3|7 Het;T>C 81;1|3 Hom;T>C 416;0|11 N N - 12 20903757 20903757 T C snp synonymous SNV T1593C H531H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SLCO1C1 Slco1c1 ENSG00000139155 solute carrier organic anion transporter family member 1C1 chr12:20848289-20906320 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Osteoporosis; height; depression; null Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1 https://www.uniprot.org/uniprot/Q9NYB5 https://www.ncbi.nlm.nih.gov/omim/?term=613389 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1 rs10841611 0.477436 0.4455 0.5397 1 0 0 exonic exonic exonic SLCO1C1 SLCO1C1 ENSG00000139155 synonymous SNV synonymous SNV unknown SLCO1C1:NM_001145944:exon12:c.T1593C:p.H531H,SLCO1C1:NM_001145946:exon15:c.T1947C:p.H649H, SLCO1C1:uc010sik.2:exon12:c.T1593C:p.H531H,SLCO1C1:uc010sii.2:exon15:c.T1947C:p.H649H,SLCO1C1:uc009zip.3:exon13:c.T1449C:p.H483H, UNKNOWN Het;T>C 1741;46|73 Het;T>C 1290;67|59 Hom;T>C 4472;0|155 N N - 12 20903865 20903865 G A snp intronic SLCO1C1 Slco1c1 ENSG00000139155 solute carrier organic anion transporter family member 1C1 chr12:20848289-20906320 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Osteoporosis; height; depression; null Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1 https://www.uniprot.org/uniprot/Q9NYB5 https://www.ncbi.nlm.nih.gov/omim/?term=613389 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1 rs10841612 0.475839 0.4529 0.5610 1 0 0 intronic intronic intronic SLCO1C1 SLCO1C1 ENSG00000139155 Na Na Na Na Na Na Het;G>A 985;19|38 Het;G>A 407;21|18 Hom;G>A 1674;0|59 N N - 12 20905250 20905250 C T snp nonsynonymous SNV C1676T S559F polar,hydrophilic,neutral aromatic,hydrophobic,neutral SLCO1C1 Slco1c1 ENSG00000139155 solute carrier organic anion transporter family member 1C1 chr12:20848289-20906320 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Osteoporosis; height; depression; null Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IEA|GO:0015349;thyroid hormone transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1C1 https://www.uniprot.org/uniprot/Q9NYB5 https://www.ncbi.nlm.nih.gov/omim/?term=613389 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1C1&submit=Quick%0D%7837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1C1 rs6487138 0.469449 0.4416 0.5359 0.58 7 12 exonic exonic exonic SLCO1C1 SLCO1C1 ENSG00000139155 nonsynonymous SNV nonsynonymous SNV unknown SLCO1C1:NM_001145944:exon13:c.C1676T:p.S559F,SLCO1C1:NM_001145946:exon16:c.C2030T:p.S677F, SLCO1C1:uc010sik.2:exon13:c.C1676T:p.S559F,SLCO1C1:uc010sii.2:exon16:c.C2030T:p.S677F,SLCO1C1:uc009zip.3:exon14:c.C1532T:p.S511F, UNKNOWN Het;C>T 645;37|29 Het;C>T 763;38|34 Hom;C>T 1476;0|52 N N - 12 20966548 20966548 C T snp UTR5 -2125C>T SLCO1B3 Slco1b2 ENSG00000111700 solute carrier organic anion transporter family member 1B3 chr12:20963636-21243040 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] height; Hemoglobins; Tuberculosis; null; Leukemia, Myeloid, Chronic-Phase; Kidney Failure; Neoplasms; Hyperbilirubinemia; mycophenolic acid pharmacokinetics; Bilirubin; Chronic renal failure|Kidney Failure, Chronic; Leukopenia|Neutropenia; prostate cancer; docetaxel elimination; Lymphoma, T-Cell, Cutaneous|Lymphoma, T-Cell, Peripheral|Skin Neoplasms; drug-related genes ; Cholesterol, LDL; paclitaxel pharmacokinetics Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015125;bile acid transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B3 https://www.uniprot.org/uniprot/Q9NPD5 https://hpo.jax.org/app/browse/search?q=SLCO1B3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605495 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B3&submit=Quick%0D%4115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B3 rs7305323 0.697085 0 0 1 0 0 UTR5 UTR5 UTR5 SLCO1B3(NM_019844:c.-2125C>T) SLCO1B3(uc001rel.4:c.-2125C>T) ENSG00000111700(ENST00000381545:c.-2125C>T) Na Na Na Na Na Na Het;C>T 275;33|16 Het;C>T 199;18|11 Hom;C>T 798;0|31 N N - 12 21011581 21011581 G A snp intronic SLCO1B3 Slco1b2 ENSG00000111700 solute carrier organic anion transporter family member 1B3 chr12:20963636-21243040 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] height; Hemoglobins; Tuberculosis; null; Leukemia, Myeloid, Chronic-Phase; Kidney Failure; Neoplasms; Hyperbilirubinemia; mycophenolic acid pharmacokinetics; Bilirubin; Chronic renal failure|Kidney Failure, Chronic; Leukopenia|Neutropenia; prostate cancer; docetaxel elimination; Lymphoma, T-Cell, Cutaneous|Lymphoma, T-Cell, Peripheral|Skin Neoplasms; drug-related genes ; Cholesterol, LDL; paclitaxel pharmacokinetics Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015125;bile acid transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B3 https://www.uniprot.org/uniprot/Q9NPD5 https://hpo.jax.org/app/browse/search?q=SLCO1B3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605495 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B3&submit=Quick%0D%4115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B3 rs4149118 0.522364 0 0 1 0 0 intronic intronic intronic SLCO1B3 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046 Na Na Na Na Na Na Het;G>A 1590;75|61 Het;G>A 1523;55|61 Hom;G>A 3404;0|111 N N - 12 21030590 21030590 C T snp intronic SLCO1B3 Slco1b2 ENSG00000111700 solute carrier organic anion transporter family member 1B3 chr12:20963636-21243040 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] height; Hemoglobins; Tuberculosis; null; Leukemia, Myeloid, Chronic-Phase; Kidney Failure; Neoplasms; Hyperbilirubinemia; mycophenolic acid pharmacokinetics; Bilirubin; Chronic renal failure|Kidney Failure, Chronic; Leukopenia|Neutropenia; prostate cancer; docetaxel elimination; Lymphoma, T-Cell, Cutaneous|Lymphoma, T-Cell, Peripheral|Skin Neoplasms; drug-related genes ; Cholesterol, LDL; paclitaxel pharmacokinetics Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0005215;transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015125;bile acid transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B3 https://www.uniprot.org/uniprot/Q9NPD5 https://hpo.jax.org/app/browse/search?q=SLCO1B3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605495 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B3&submit=Quick%0D%4115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B3 rs4149137 0.515375 0 0 1 0 0 intronic intronic intronic SLCO1B3 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046 Na Na Na Na Na Na Het;C>T 200;11|7 Het;C>T 142;3|5 Hom;C>T 176;0|5 N N - 12 21175691 21175691 A G snp intronic SLCO1B7 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) chr12:20968673-21245679 Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. GO:0006810;transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7 rs10841725 0.636182 0 0 1 0 0 intronic intronic intronic SLCO1B7 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046 Na Na Na Na Na Na Het;A>G 360;10|12 Het;A>G 567;26|19 Hom;A>G 1426;0|42 N N - 12 21175703 21175703 G A snp intronic SLCO1B7 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) chr12:20968673-21245679 Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. GO:0006810;transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7 rs10841726 0.636182 0 0 1 0 0 intronic intronic intronic SLCO1B7 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046 Na Na Na Na Na Na Het;G>A 412;13|15 Het;G>A 652;27|25 Hom;G>A 1605;0|51 N N - 12 21175719 21175719 A G snp intronic SLCO1B7 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) chr12:20968673-21245679 Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. GO:0006810;transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7 rs10841727 0.636781 0 0 1 0 0 intronic intronic intronic SLCO1B7 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046 Na Na Na Na Na Na Het;A>G 673;22|22 Het;A>G 899;40|38 Hom;A>G 2651;0|83 N N - 12 21201663 21201663 G A snp nonsynonymous SNV G1012A A338T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SLCO1B7 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) chr12:20968673-21245679 Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. GO:0006810;transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7 rs11045689 0.473842 0.5147 0.6716 0.08 1 13 exonic exonic exonic SLCO1B7 SLCO1B7 ENSG00000205754,ENSG00000257046 nonsynonymous SNV nonsynonymous SNV unknown SLCO1B7:NM_001009562:exon8:c.G1012A:p.A338T, SLCO1B7:uc010sin.2:exon8:c.G1012A:p.A338T,SLCO1B7:uc010sim.2:exon9:c.G1153A:p.A385T, UNKNOWN Het;G>A 233;13|12 Het;G>A 483;15|21 Hom;G>A 1000;0|36 N N - 12 21207346 21207346 T C snp intronic SLCO1B7 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) chr12:20968673-21245679 Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. GO:0006810;transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7 rs7312369 0.482428 0.5157 0.6130 1 0 0 intronic intronic intronic SLCO1B7 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046,ENSG00000257062 Na Na Na Na Na Na Het;T>C 73;6|3 Het;T>C 431;2|12 Hom;T>C 620;0|18 N N - 12 21220349 21220349 A T snp intronic SLCO1B7 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) chr12:20968673-21245679 Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. GO:0006810;transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B7 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B7&submit=Quick%0D%17557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B7 rs1910163 0.466454 0.4790 0.6330 1 0 0 intronic intronic intronic SLCO1B7 SLCO1B3,SLCO1B7 ENSG00000111700,ENSG00000205754,ENSG00000257046,ENSG00000257062 Na Na Na Na Na Na Het;A>T 197;5|9 Het;A>T 84;4|5 Hom;A>T 823;0|32 N N - 12 21331987 21331987 C T snp intronic SLCO1B1 ENSG00000134538 solute carrier organic anion transporter family member 1B1 chr12:21284136-21392180 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009] Colorectal Neoplasms|Neutropenia; Gastrointestinal Diseases|Precursor Cell Lymphoblastic Leukemia-Lymphoma; rosuvastatin pharmacokinetics; Delta9-tetrahydrocannabinol; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Chronic renal failure|Kidney Failure, Chronic; pravastatin pharmcokinetics; Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; bilirubin; null; rifampicin pharmacokinetics; nateglinide pharmacokinetics; Neoplasms|Neutropenia; simvastatin pharmacokinetics; atorvastatin pharmacokinetics rosuvastatin pharmacokinetics; Bilirubin; lopinavir accumulation; Metabolism; drug-related genes ; Hyperbilirubinemia, Neonatal; rheumatoid arthritis; pravastatin kinetics; hyperbilirubinemia; pravastatin kinetics; cholesterol synthesis rate; Acute Coronary Syndrome; altered OATP-C transport activity; serum bilirubin levels; Hypercholesterolemia|LDLC levels; pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics; Hyperbilirubinemia, Hereditary; mycophenolic acid pharmacokinetics; pharmacogenetics of cyclosporine; atrasentan phamacokinetics; simvastatin pharmacokinetics talinol pharmacokinetics; Jaundice, Neonatal|Neonatal Jaundice; Gallstones|; Hypercholesterolemia; Birth Weight|Hyperbilirubinemia, Neonatal; Hyperlipidemias; obesity; cholesterol, LDL; Tuberculosis; pravastatin ; pitavastatin pharmacokinetics; pharmacogenetic studies; Muscular Diseases; response to statin therapy; normal variation; Coronary Artery Disease|; lung cancer; hypertension; cholesterol; irinotecan pharmacokinetics; Diabetes Mellitus, Type 2; repaglinide pharmacokinetics; Type 2 diabetes; cholesterol, LDL pravastatin parmacokinetics; cholesterol, HDL cholesterol, LDL heart transplant; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; cholesterol; lathosterol; Arterial Occlusive Diseases|Diabetes Mellitus|Muscular Diseases|Myocardial Infarction; Disorder of muscle, unspec|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Muscular Diseases; Biliary calculi|Gallstones|Gilbert Disease; HIV Infections|[X]Human immunodeficiency virus disease; Myocardial Infarction Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0070327;thyroid hormone transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0005215;transporter activity;IEA|GO:0015125;bile acid transmembrane transporter activity;TAS|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS|GO:0015349;thyroid hormone transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLCO1B1 https://www.uniprot.org/uniprot/Q9Y6L6 https://hpo.jax.org/app/browse/search?q=SLCO1B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604843 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO1B1&submit=Quick%0D%6995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO1B1 rs2291076 0.29353 0.3411 0.4070 1 0 0 intronic intronic intronic SLCO1B1 SLCO1B1 ENSG00000134538 Na Na Na Na Na Na Het;C>T 859;30|41 Het;C>T 736;43|35 Hom;C>T 2587;0|95 N N - 12 24202434 24202434 T C snp intronic SOX5 Sox5 ENSG00000134532 SRY-box 5 chr12:23682440-24103966 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Bone Mineral Density; Perphenazine; Platelet Count; Triglycerides; Cholesterol, LDL; Cleft Lip|Cleft Palate; PR interval; Azoospermia; Body Mass Index; Hypertrophy, Left Ventricular; AIDS; Lipids; response to antipsychotic treatment; Alcoholism; Acquired Immunodeficiency Syndrome; Hematocrit; Tobacco Use Disorder; Scleroderma, Systemic; Acquired Immunodeficiency Syndrome|HIV Seropositivity; Calcium Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0055059;asymmetric neuroblast division;IGI|GO:0061036;positive regulation of cartilage development;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000741;positive regulation of mesenchymal stem cell differentiation;IDA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SOX5 https://www.uniprot.org/uniprot/P35711 https://hpo.jax.org/app/browse/search?q=SOX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604975 http://www.informatics.jax.org/searchtool/Search.do?query=SOX5&submit=Quick%0D%6993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX5 rs4963740 0.815296 0 0 1 0 0 intronic intronic intergenic SOX5 SOX5 ENSG00000134532(dist=98468),ENSG00000216192(dist=162921) Na Na Na Na Na Na Het;T>C 306;3|9 Het;T>C 262;4|8 Hom;T>C 582;0|15 N N - 12 24640855 24640855 T C snp ncRNA_intronic AC069208.1 rs7970266 0.732228 0 0 1 0 0 intronic intronic ncRNA_intronic SOX5 SOX5 ENSG00000255864 Na Na Na Na Na Na Het;T>C 78;2|3 Ref Hom;T>C 142;0|4 N N - 12 24720894 24720895 GA G indel ncRNA_intronic LINC00477 rs138604464 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00477 LINC00477 ENSG00000197503 Na Na Na Na Na Na Het;-A 36;1|3 Ref Hom;-A 47;0|3 N N - 12 24836598 24836598 T A snp intergenic LINC00477 rs10437777 0.396965 0 0 1 0 0 intergenic intergenic intergenic LINC00477(dist=99496),BCAT1(dist=126360) LINC00477(dist=99496),BCAT1(dist=126360) ENSG00000244662(dist=40498),ENSG00000255745(dist=20901) Na Na Na Na Na Na Het;T>A 227;6|8 Het;T>A 79;12|4 Hom;T>A 363;0|11 N N - 12 24836810 24836810 T C snp intergenic LINC00477 rs16927807 0.398363 0 0 1 0 0 intergenic intergenic intergenic LINC00477(dist=99708),BCAT1(dist=126148) LINC00477(dist=99708),BCAT1(dist=126148) ENSG00000244662(dist=40710),ENSG00000255745(dist=20689) Na Na Na Na Na Na Het;T>C 381;23|16 Het;T>C 580;38|28 Hom;T>C 2003;0|71 N N - 12 25249785 25249785 T C snp intronic LRMP Lrmp ENSG00000118308 lymphoid restricted membrane protein chr12:25173936-25261268 The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] lung cancer; Adenocarcinoma|Adenomatosis, Pulmonary|Hyperplasia|Lung Neoplasms; Cholesterol, LDL; Tobacco Use Disorder; Cholesterol; lung cancer ; esophageal adenocarcinoma; Myocardial Infarction Variations (SNPs) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. Neutrophil degranulation GO:0002376;immune system process;IEA|GO:0006903;vesicle targeting;TAS|GO:0006906;vesicle fusion;TAS|GO:0007338;single fertilization;IEA|GO:0043312;neutrophil degranulation;TAS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/LRMP https://www.uniprot.org/uniprot/Q12912 https://www.ncbi.nlm.nih.gov/omim/?term=602003 http://www.informatics.jax.org/searchtool/Search.do?query=LRMP&submit=Quick%0D%4963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRMP rs10771166 0.593251 0 0 1 0 0 intronic intronic intronic LRMP LRMP ENSG00000118308 Na Na Na Na Na Na Het;T>C 59;12|4 Het;T>C 258;13|10 Hom;T>C 692;0|22 N N - 12 25297713 25297713 C T snp intronic CASC1 Casc1 ENSG00000118307 cancer susceptibility 1 chr12:25261354-25348096 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Adenocarcinoma|Adenomatosis, Pulmonary|Hyperplasia|Lung Neoplasms; lung cancer Mice with disruptions of this gene display a higher incidence of lung tumors. http://www.genecards.org/index.php?path=/Search/keyword/CASC1 https://www.uniprot.org/uniprot/Q6TDU7 https://www.ncbi.nlm.nih.gov/omim/?term=616906 http://www.informatics.jax.org/searchtool/Search.do?query=CASC1&submit=Quick%0D%4962ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CASC1 rs7971062 0.527157 0 0 1 0 0 intronic intronic intronic CASC1 CASC1 ENSG00000118307 Na Na Na Na Na Na Het;C>T 240;10|9 Het;C>T 274;9|11 Hom;C>T 525;0|17 N N - 12 25679932 25679932 G A snp intronic LMNTD1 Lmntd1 rs1705419 0.74361 0.7726 0.8095 1 0 0 intronic intronic intronic LMNTD1 IFLTD1 ENSG00000152936 Na Na Na Na Na Na Het;G>A 298;4|10 Het;G>A 125;12|6 Hom;G>A 260;0|9 N N - 12 25699523 25699523 A G snp intronic LMNTD1 Lmntd1 rs278990 0.749401 0.7761 0.8206 1 0 0 intronic intronic intronic LMNTD1 IFLTD1 ENSG00000152936 Na Na Na Na Na Na Het;A>G 326;5|13 Het;A>G 671;20|24 Hom;A>G 1013;0|34 N N - 12 25706134 25706134 G A snp UTR5 -106C>T LMNTD1 Lmntd1 rs829047 0.61881 0 0 1 0 0 UTR5 UTR5 UTR5 LMNTD1(NM_152590:c.-106C>T,NM_001145728:c.-241C>T,NM_001256266:c.-6690C>T,NM_001145729:c.-241C>T) IFLTD1(uc010sji.1:c.-241C>T,uc001rgs.2:c.-106C>T,uc001rgt.2:c.-6690C>T,uc009zjc.2:c.-241C>T) ENSG00000152936(ENST00000282881:c.-106C>T,ENST00000539744:c.-6690C>T,ENST00000458174:c.-241C>T,ENST00000413632:c.-241C>T) Na Na Na Na Na Na Het;G>A 332;20|11 Het;G>A 220;9|8 Hom;G>A 620;0|18 N N - 12 25951473 25951473 C CTT indel ncRNA_intronic AC019209.3 rs397937634 0.211661 0 0 1 0 0 intergenic intergenic ncRNA_intronic LMNTD1(dist=149977),MIR4302(dist=75480) IFLTD1(dist=149977),MIR4302(dist=75480) ENSG00000256686 Na Na Na Na Na Na Het;+TT 784;27|32 Het;+TT 518;13|22 Hom;+TT 1946;4|63 N N - 12 26784850 26784850 G A snp synonymous SNV C2883T H961H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ITPR2 Itpr2 ENSG00000123104 inositol 1,4,5-trisphosphate receptor type 2 chr12:26490342-26986131 The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] Insulin; Bipolar Disorder; Type 2 Diabetes| edema | rosiglitazone; ALS; Amyotrophic lateral sclerosis; Heart Rate; blood pressure; bronchodilator response; Attention Deficit Disorder with Hyperactivity; Amyotrophic Lateral Sclerosis; smoking cessation; Cholesterol; Tobacco Use Disorder Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0030168;platelet activation;TAS|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071361;cellular response to ethanol;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IMP|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;IEA|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITPR2 https://www.uniprot.org/uniprot/Q14571 https://hpo.jax.org/app/browse/search?q=ITPR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600144 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR2&submit=Quick%0D%5484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR2 rs2230372 0.492812 0.5214 0.4856 1 0 0 exonic exonic exonic ITPR2 ITPR2 ENSG00000123104 synonymous SNV synonymous SNV unknown ITPR2:NM_002223:exon22:c.C2883T:p.H961H, ITPR2:uc001rhg.3:exon22:c.C2883T:p.H961H, UNKNOWN Het;G>A 1065;73|48 Het;G>A 933;58|48 Hom;G>A 3342;0|127 N N - 12 26811045 26811045 T C snp synonymous SNV A1905G S635S polar,hydrophilic,neutral polar,hydrophilic,neutral ITPR2 Itpr2 ENSG00000123104 inositol 1,4,5-trisphosphate receptor type 2 chr12:26490342-26986131 The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] Insulin; Bipolar Disorder; Type 2 Diabetes| edema | rosiglitazone; ALS; Amyotrophic lateral sclerosis; Heart Rate; blood pressure; bronchodilator response; Attention Deficit Disorder with Hyperactivity; Amyotrophic Lateral Sclerosis; smoking cessation; Cholesterol; Tobacco Use Disorder Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0030168;platelet activation;TAS|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071361;cellular response to ethanol;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IMP|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;IEA|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITPR2 https://www.uniprot.org/uniprot/Q14571 https://hpo.jax.org/app/browse/search?q=ITPR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600144 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR2&submit=Quick%0D%5484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR2 rs12313993 0.20607 0.2312 0.1832 1 0 0 exonic exonic exonic ITPR2 ITPR2 ENSG00000123104 synonymous SNV synonymous SNV unknown ITPR2:NM_002223:exon17:c.A1905G:p.S635S, ITPR2:uc001rhg.3:exon17:c.A1905G:p.S635S, UNKNOWN Het;T>C 496;25|23 Het;T>C 285;30|15 Hom;T>C 1364;2|52 N N - 12 2692186 2692186 T G snp intronic CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs3751254 0.632588 0 0 1 0 0 intronic intronic intronic CACNA1C CACNA1C ENSG00000151067 Na Na Na Na Na Na Het;T>G 328;11|14 Het;T>G 188;5|8 Hom;T>G 666;0|21 N N - 12 27021673 27021673 T C snp intergenic ITPR2 Itpr2 ENSG00000123104 inositol 1,4,5-trisphosphate receptor type 2 chr12:26490342-26986131 The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] Insulin; Bipolar Disorder; Type 2 Diabetes| edema | rosiglitazone; ALS; Amyotrophic lateral sclerosis; Heart Rate; blood pressure; bronchodilator response; Attention Deficit Disorder with Hyperactivity; Amyotrophic Lateral Sclerosis; smoking cessation; Cholesterol; Tobacco Use Disorder Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0030168;platelet activation;TAS|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071361;cellular response to ethanol;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IMP|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;IEA|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITPR2 https://www.uniprot.org/uniprot/Q14571 https://hpo.jax.org/app/browse/search?q=ITPR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600144 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR2&submit=Quick%0D%5484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR2 rs7967504 0.770168 0 0 1 0 0 intergenic intergenic intergenic ITPR2(dist=35542),ASUN(dist=36439) ITPR2(dist=35542),ASUN(dist=36439) ENSG00000123104(dist=35542),ENSG00000064102(dist=36441) Na Na Na Na Na Na Het;T>C 784;32|33 Het;T>C 312;36|17 Hom;T>C 1514;0|53 N N - 12 27021699 27021699 A AT indel intergenic ITPR2 Itpr2 ENSG00000123104 inositol 1,4,5-trisphosphate receptor type 2 chr12:26490342-26986131 The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015] Insulin; Bipolar Disorder; Type 2 Diabetes| edema | rosiglitazone; ALS; Amyotrophic lateral sclerosis; Heart Rate; blood pressure; bronchodilator response; Attention Deficit Disorder with Hyperactivity; Amyotrophic Lateral Sclerosis; smoking cessation; Cholesterol; Tobacco Use Disorder Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0030168;platelet activation;TAS|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051209;release of sequestered calcium ion into cytosol;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEA|GO:0071361;cellular response to ethanol;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0033017;sarcoplasmic reticulum membrane;IMP|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;IEA|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITPR2 https://www.uniprot.org/uniprot/Q14571 https://hpo.jax.org/app/browse/search?q=ITPR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600144 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR2&submit=Quick%0D%5484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR2 rs35317999 0.751398 0 0 1 0 0 intergenic intergenic intergenic ITPR2(dist=35568),ASUN(dist=36413) ITPR2(dist=35568),ASUN(dist=36413) ENSG00000123104(dist=35568),ENSG00000064102(dist=36415) Na Na Na Na Na Na Het;+T 1373;52|46 Het;+T 829;52|30 Hom;+T 3451;0|90 N N - 12 27059224 27059224 G A snp intronic ASUN Asun rs1488052 0.900359 0.8207 0.8202 1 0 0 intronic intronic intronic ASUN ASUN ENSG00000064102 Na Na Na Na Na Na Het;G>A 453;36|20 Het;G>A 770;23|28 Hom;G>A 1648;0|56 N N - 12 27059422 27059422 T C snp intronic ASUN Asun rs1488051 0.682308 0.6281 0.6454 1 0 0 intronic intronic intronic ASUN ASUN ENSG00000064102 Na Na Na Na Na Na Het;T>C 932;39|39 Het;T>C 772;34|35 Hom;T>C 1715;0|61 N N - 12 27059512 27059512 G A snp intronic ASUN Asun rs1488050 0.588059 0 0 1 0 0 intronic intronic intronic ASUN ASUN ENSG00000064102 Na Na Na Na Na Na Het;G>A 207;6|7 Het;G>A 177;5|6 Hom;G>A 206;0|6 N N - 12 27064232 27064232 C T snp synonymous SNV G1824A E608E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ASUN Asun rs3210635 0.579273 0.4873 0.5184 1 0 0 exonic exonic exonic ASUN ASUN ENSG00000064102 synonymous SNV synonymous SNV unknown ASUN:NM_018164:exon15:c.G1824A:p.E608E, ASUN:uc010sjk.2:exon13:c.G1521A:p.E507E,ASUN:uc001rhj.4:exon6:c.G528A:p.E176E,ASUN:uc001rhk.4:exon15:c.G1824A:p.E608E, UNKNOWN Het;C>T 1448;56|65 Het;C>T 654;62|34 Hom;C>T 2970;2|110 N N - 12 27066350 27066350 C T snp intronic ASUN Asun rs3736227 0.579273 0.4872 0.5182 1 0 0 intronic intronic intronic ASUN ASUN ENSG00000064102 Na Na Na Na Na Na Het;C>T 928;20|34 Het;C>T 503;18|20 Hom;C>T 1688;0|54 N N - 12 27075705 27075705 A T snp intronic ASUN Asun rs7137176 0.589058 0 0 1 0 0 intronic intronic intronic ASUN ASUN ENSG00000064102 Na Na Na Na Na Na Het;A>T 260;21|12 Het;A>T 406;5|15 Hom;A>T 676;0|23 N N - 12 27081566 27081566 C G snp intronic ASUN Asun rs2029309 0.897165 0 0 1 0 0 intronic intronic intronic ASUN ASUN ENSG00000064102 Na Na Na Na Na Na Het;C>G 697;24|24 Het;C>G 396;17|15 Hom;C>G 1215;0|37 N N - 12 2757756 2757756 T C snp intronic CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs2239127 0.666933 0 0 1 0 0 intronic intronic intronic CACNA1C CACNA1C ENSG00000151067 Na Na Na Na Na Na Het;T>C 797;19|34 Het;T>C 663;17|28 Hom;T>C 1664;0|58 N N - 12 2757769 2757769 T C snp intronic CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs2239128 0.666534 0 0 1 0 0 intronic intronic intronic CACNA1C CACNA1C ENSG00000151067 Na Na Na Na Na Na Het;T>C 598;17|25 Het;T>C 516;13|23 Hom;T>C 1267;0|45 N N - 12 2757782 2757782 C T snp intronic CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs2239129 0.652955 0 0 1 0 0 intronic intronic intronic CACNA1C CACNA1C ENSG00000151067 Na Na Na Na Na Na Het;C>T 493;9|18 Het;C>T 283;10|15 Hom;C>T 1041;0|31 N N - 12 2760970 2760970 G A snp intronic CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs1990322 0.553914 0.5664 0.6952 1 0 0 intronic intronic intronic CACNA1C CACNA1C ENSG00000151067 Na Na Na Na Na Na Het;G>A 1207;62|56 Het;G>A 1656;63|77 Hom;G>A 3768;0|137 N N - 12 27705048 27705048 G C snp ncRNA_intronic AC087257.1 rs10771341 0.285343 0 0 1 0 0 intronic intronic ncRNA_intronic PPFIBP1 PPFIBP1 ENSG00000248100 Na Na Na Na Na Na Het;G>C 1252;72|55 Het;G>C 1011;72|52 Hom;G>C 3267;2|128 N N - 12 27705194 27705194 G A snp ncRNA_intronic AC087257.1 rs7307592 0.673522 0 0 1 0 0 intronic intronic ncRNA_intronic PPFIBP1 PPFIBP1 ENSG00000248100 Na Na Na Na Na Na Het;G>A 399;18|16 Het;G>A 230;12|10 Hom;G>A 209;0|7 N N - 12 2774668 2774668 C A snp intronic CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs2302728 0.59345 0 0 1 0 0 intronic intronic intronic CACNA1C CACNA1C ENSG00000151067 Na Na Na Na Na Na Het;C>A 536;23|21 Het;C>A 316;24|15 Hom;C>A 1091;0|37 N N - 12 27788021 27788021 G A snp synonymous SNV G243A T81T polar,hydrophilic,neutral polar,hydrophilic,neutral PPFIBP1 Ppfibp1 ENSG00000110841 PPFIA binding protein 1 chr12:27676364-27848497 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Body Mass Index; Cholesterol, LDL; Tobacco Use Disorder Receptor-type tyrosine-protein phosphatases GO:0007155;cell adhesion;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPFIBP1 https://www.uniprot.org/uniprot/Q86W92 https://www.ncbi.nlm.nih.gov/omim/?term=603141 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIBP1&submit=Quick%0D%3996ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIBP1 rs2075378 0.348442 0.3255 0.3336 1 0 0 exonic exonic exonic PPFIBP1 PPFIBP1 ENSG00000110841 synonymous SNV synonymous SNV unknown PPFIBP1:NM_003622:exon4:c.G243A:p.T81T,PPFIBP1:NM_177444:exon4:c.G243A:p.T81T,PPFIBP1:NM_001198916:exon4:c.G243A:p.T81T, PPFIBP1:uc001ric.2:exon4:c.G243A:p.T81T,PPFIBP1:uc001rhy.1:exon4:c.G243A:p.T81T,PPFIBP1:uc001rib.2:exon4:c.G243A:p.T81T,PPFIBP1:uc001rhz.2:exon4:c.G243A:p.T81T,PPFIBP1:uc001ria.3:exon4:c.G243A:p.T81T, UNKNOWN Het;G>A 910;47|40 Het;G>A 1047;37|50 Hom;G>A 1776;0|63 N N - 12 2788879 2788879 G A snp synonymous SNV G5328A T1776T polar,hydrophilic,neutral polar,hydrophilic,neutral CACNA1C Cacna1c ENSG00000151067 calcium voltage-gated channel subunit alpha1 C chr12:2079952-2802108 This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Narcolepsy; Disease Models, Animal; Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder; Hyperparathyroidism, Secondary; bipolar disorder; Heart Diseases|Inflammation|Myocardial Infarction; Hematocrit; Hypertension; Bipolar disorder; depression; Stroke; warfarin maintenance dose; null; Bipolar Disorder; hypertension; schizophrenia | depression; Hemoglobins; Inflammatory Bowel Diseases; mental illness; Receptors, Tumor Necrosis Factor, Type II; Tunica Media; Creatinine; Schizophrenia; Warfarin; Alcoholism Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. Phase 2 - plateau phase GO:0002520;immune system development;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007507;heart development;IMP|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035115;embryonic forelimb morphogenesis;IMP|GO:0035585;calcium-mediated signaling using extracellular calcium source;TAS|GO:0043010;camera-type eye development;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060402;calcium ion transport into cytosol;TAS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IMP|GO:0086045;membrane depolarization during AV node cell action potential;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:0098912;membrane depolarization during atrial cardiac muscle cell action potential;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0014069;postsynaptic density;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IMP|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1C https://www.uniprot.org/uniprot/Q13936 https://hpo.jax.org/app/browse/search?q=CACNA1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114205 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1C&submit=Quick%0D%9376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1C rs1051375 0.526358 0.5811 0.6953 1 0 0 exonic exonic exonic CACNA1C CACNA1C ENSG00000151067 synonymous SNV synonymous SNV unknown CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T, CACNA1C:uc001qku.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc001qkn.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc009zdu.1:exon44:c.G5505A:p.T1835T,CACNA1C:uc001qjz.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc001qkf.2:exon41:c.G5385A:p.T1795T,CACNA1C:uc001qkd.2:exon42:c.G5418A:p.T1806T,CACNA1C:uc001qkj.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc001qkp.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc001qkg.2:exon41:c.G5379A:p.T1793T,CACNA1C:uc001qke.2:exon41:c.G5328A:p.T1776T,CACNA1C:uc001qkb.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc001qkh.2:exon41:c.G5385A:p.T1795T,CACNA1C:uc001qkt.2:exon42:c.G5418A:p.T1806T,CACNA1C:uc001qks.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc009zdw.1:exon42:c.G5484A:p.T1828T,CACNA1C:uc010sea.1:exon12:c.G1434A:p.T478T,CACNA1C:uc001qkk.2:exon42:c.G5361A:p.T1787T,CACNA1C:uc001qko.2:exon43:c.G5421A:p.T1807T,CACNA1C:uc001qkm.2:exon41:c.G5328A:p.T1776T,CACNA1C:uc009zdv.1:exon42:c.G5352A:p.T1784T,CACNA1C:uc001qkr.2:exon42:c.G5412A:p.T1804T,CACNA1C:uc001qkc.2:exon42:c.G5418A:p.T1806T,CACNA1C:uc001qky.1:exon2:c.G315A:p.T105T,CACNA1C:uc001qki.1:exon40:c.G4569A:p.T1523T,CACNA1C:uc001qkq.2:exon43:c.G5445A:p.T1815T,CACNA1C:uc001qkl.2:exon44:c.G5505A:p.T1835T, UNKNOWN Het;G>A 2262;91|103 Het;G>A 3130;82|129 Hom;G>A 4810;0|175 N N - 12 28172342 28172342 T G snp intergenic PTHLH Pthlh ENSG00000087494 parathyroid hormone like hormone chr12:28111017-28125638 The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013] Heart Failure; Adiponectin; Type 2 Diabetes| edema | rosiglitazone; thyroid cancer; Aspartate Aminotransferases; Bone Mineral Density; Heart Rate; Fractures, Bone|Osteoporosis; Waist-Hip Ratio; Celiac Disease|; Attention Deficit Disorder with Hyperactivity; ovarian cancer | breast cancer Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption. G alpha (s) signalling events GO:0001501;skeletal system development;IDA|GO:0002076;osteoblast development;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007565;female pregnancy;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0032330;regulation of chondrocyte differentiation;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0046058;cAMP metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005179;hormone activity;TAS|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTHLH https://www.uniprot.org/uniprot/P12272 https://hpo.jax.org/app/browse/search?q=PTHLH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168470 http://www.informatics.jax.org/searchtool/Search.do?query=PTHLH&submit=Quick%0D%1976ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTHLH rs10843057 0.0986422 0 0 1 0 0 intergenic intergenic intergenic PTHLH(dist=47426),CCDC91(dist=237791) PTHLH(dist=47426),CCDC91(dist=159868) ENSG00000087494(dist=46704),ENSG00000123106(dist=113840) Na Na Na Na Na Na Het;T>G 211;3|7 Ref Hom;T>G 192;0|6 N N - 12 28605426 28605426 G A snp nonsynonymous SNV G346A V116M aliphatic,hydrophobic,neutral hydrophobic,neutral CCDC91 Ccdc91 ENSG00000123106 coiled-coil domain containing 91 chr12:28286182-28732883 Alcohol Drinking; Echocardiography; Respiratory Function Tests; Tobacco Use Disorder; Disease; Body Height GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0090160;Golgi to lysosome transport;IMP GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC91 https://www.uniprot.org/uniprot/Q7Z6B0 https://www.ncbi.nlm.nih.gov/omim/?term=617366 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC91&submit=Quick%0D%5485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC91 rs10771427 0.669129 0.7838 0.7103 0.15 2 13 exonic exonic exonic CCDC91 CCDC91 ENSG00000123106 nonsynonymous SNV nonsynonymous SNV unknown CCDC91:NM_018318:exon10:c.G940A:p.V314M, CCDC91:uc009zjl.3:exon6:c.G346A:p.V116M,CCDC91:uc001rio.3:exon13:c.G850A:p.V284M,CCDC91:uc001rip.1:exon10:c.G940A:p.V314M,CCDC91:uc001riq.3:exon10:c.G940A:p.V314M, UNKNOWN Het;G>A 86;15|6 Het;G>A 413;18|19 Hom;G>A 811;0|27 N N - 12 2880786 2880786 A G snp ncRNA_intronic ITFG2-AS1 rs12818063 0.76877 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC283440 LOC283440 ENSG00000256150 Na Na Na Na Na Na Het;A>G 547;42|26 Het;A>G 300;29|13 Hom;A>G 1228;0|49 N N - 12 29049815 29049815 C T snp intergenic CCDC91 Ccdc91 ENSG00000123106 coiled-coil domain containing 91 chr12:28286182-28732883 Alcohol Drinking; Echocardiography; Respiratory Function Tests; Tobacco Use Disorder; Disease; Body Height GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0090160;Golgi to lysosome transport;IMP GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC91 https://www.uniprot.org/uniprot/Q7Z6B0 https://www.ncbi.nlm.nih.gov/omim/?term=617366 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC91&submit=Quick%0D%5485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC91 rs7305371 0.79353 0 0 1 0 0 intergenic intergenic intergenic CCDC91(dist=346716),FAR2(dist=252121) CCDC91(dist=346716),FAR2(dist=252121) ENSG00000256513(dist=71051),ENSG00000222481(dist=223901) Na Na Na Na Na Na Het;C>T 96;4|4 Het;C>T 127;5|5 Hom;C>T 119;0|4 N N - 12 29423460 29423460 G A snp synonymous SNV G78A L26L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAR2 Far2 ENSG00000064763 fatty acyl-CoA reductase 2 chr12:29302036-29493913 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] Platelet Count; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit abnormal sebaceous gland differentiation and secretion leading to altered skin lipid content and primary cicatricial alopecia. Wax biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0010025;wax biosynthetic process;TAS|GO:0035336;long-chain fatty-acyl-CoA metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;IEA|GO:0050062;long-chain-fatty-acyl-CoA reductase activity;IEA|GO:0080019;fatty-acyl-CoA reductase (alcohol-forming) activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAR2 https://www.uniprot.org/uniprot/Q96K12 https://www.ncbi.nlm.nih.gov/omim/?term=616156 http://www.informatics.jax.org/searchtool/Search.do?query=FAR2&submit=Quick%0D%1145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAR2 rs2216854 0.427915 0.4530 0.3643 1 0 0 exonic exonic exonic FAR2 FAR2 ENSG00000064763 synonymous SNV synonymous SNV unknown FAR2:NM_001271783:exon2:c.G78A:p.L26L,FAR2:NM_018099:exon2:c.G78A:p.L26L, FAR2:uc001ris.5:exon2:c.G78A:p.L26L,FAR2:uc001rit.4:exon2:c.G78A:p.L26L, UNKNOWN Het;G>A 990;75|50 Het;G>A 1023;46|50 Hom;G>A 2758;0|106 N N - 12 29434147 29434147 A G snp ncRNA_exonic LOC100506606 rs962866 0.466454 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100506606 AX746523 ENSG00000257176 Na Na Na Na Na Na Het;A>G 595;23|26 Het;A>G 1109;36|49 Hom;A>G 2288;0|84 N N - 12 29445169 29445169 C T snp ncRNA_exonic LOC100506606 rs3782505 0.705072 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100506606 AX746523 ENSG00000257176 Na Na Na Na Na Na Het;C>T 919;61|44 Het;C>T 878;58|43 Hom;C>T 3493;0|129 N N - 12 29462224 29462224 C G snp ncRNA_intronic AX746523 rs6487807 0.666933 0.6427 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100506606 AX746523 ENSG00000257176 Na Na Na Na Na Na Het;C>G 225;20|12 Het;C>G 248;7|12 Hom;C>G 986;0|37 N N - 12 29471132 29471132 A C snp intronic FAR2 Far2 ENSG00000064763 fatty acyl-CoA reductase 2 chr12:29302036-29493913 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] Platelet Count; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit abnormal sebaceous gland differentiation and secretion leading to altered skin lipid content and primary cicatricial alopecia. Wax biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0010025;wax biosynthetic process;TAS|GO:0035336;long-chain fatty-acyl-CoA metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;IEA|GO:0050062;long-chain-fatty-acyl-CoA reductase activity;IEA|GO:0080019;fatty-acyl-CoA reductase (alcohol-forming) activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAR2 https://www.uniprot.org/uniprot/Q96K12 https://www.ncbi.nlm.nih.gov/omim/?term=616156 http://www.informatics.jax.org/searchtool/Search.do?query=FAR2&submit=Quick%0D%1145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAR2 rs2016832 0.666733 0 0 1 0 0 intronic intronic intronic FAR2 FAR2 ENSG00000064763 Na Na Na Na Na Na Het;A>C 595;33|25 Het;A>C 519;38|23 Hom;A>C 1545;0|53 N N - 12 29485449 29485449 G A snp intronic FAR2 Far2 ENSG00000064763 fatty acyl-CoA reductase 2 chr12:29302036-29493913 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] Platelet Count; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit abnormal sebaceous gland differentiation and secretion leading to altered skin lipid content and primary cicatricial alopecia. Wax biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0010025;wax biosynthetic process;TAS|GO:0035336;long-chain fatty-acyl-CoA metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;IEA|GO:0050062;long-chain-fatty-acyl-CoA reductase activity;IEA|GO:0080019;fatty-acyl-CoA reductase (alcohol-forming) activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAR2 https://www.uniprot.org/uniprot/Q96K12 https://www.ncbi.nlm.nih.gov/omim/?term=616156 http://www.informatics.jax.org/searchtool/Search.do?query=FAR2&submit=Quick%0D%1145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAR2 rs10743656 0.666534 0 0 1 0 0 intronic intronic intronic FAR2 FAR2 ENSG00000064763 Na Na Na Na Na Na Het;G>A 241;5|8 Het;G>A 291;7|11 Hom;G>A 243;0|11 N N - 12 30887820 30887820 A T snp intronic CAPRIN2 Caprin2 ENSG00000110888 caprin family member 2 chr12:30862486-30907885 The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Coronary Disease; Electrocardiography; Coronary Artery Disease GO:0017148;negative regulation of translation;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0040008;regulation of growth;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA GO:0003723;RNA binding;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPRIN2 https://www.uniprot.org/uniprot/Q6IMN6 https://www.ncbi.nlm.nih.gov/omim/?term=610375 http://www.informatics.jax.org/searchtool/Search.do?query=CAPRIN2&submit=Quick%0D%4006ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPRIN2 rs7134998 0.324081 0 0 1 0 0 intronic intronic intronic CAPRIN2 CAPRIN2 ENSG00000110888 Na Na Na Na Na Na Het;A>T 233;7|11 Het;A>T 312;7|12 Hom;A>T 549;1|17 N N - 12 31213483 31213483 T C snp ncRNA_intronic DDX11-AS1 rs2536707 0.655152 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic DDX11-AS1 DDX11-AS1 ENSG00000245614 Na Na Na Na Na Na Het;T>C 164;15|8 Het;T>C 228;5|9 Hom;T>C 359;0|10 N N - 12 31213631 31213631 C T snp ncRNA_exonic DDX11-AS1 rs4537846 0.632188 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DDX11-AS1 DDX11-AS1 ENSG00000245614 Na Na Na Na Na Na Het;C>T 565;83|34 Het;C>T 651;61|35 Hom;C>T 2527;0|93 N N - 12 31213644 31213644 G T snp ncRNA_exonic DDX11-AS1 rs4362216 0.63099 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DDX11-AS1 DDX11-AS1 ENSG00000245614 Na Na Na Na Na Na Het;G>T 676;77|37 Het;G>T 745;59|38 Hom;G>T 2362;0|88 N N - 12 31213735 31213735 C T snp ncRNA_intronic DDX11-AS1 rs4356315 0.630791 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic DDX11-AS1 DDX11-AS1 ENSG00000245614 Na Na Na Na Na Na Het;C>T 415;30|22 Het;C>T 397;24|17 Hom;C>T 1096;0|40 N N - 12 31226440 31226440 A G snp ncRNA_exonic DDX11-AS1 rs3891006 0.626198 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DDX11-AS1 DDX11-AS1 ENSG00000245614 Na Na Na Na Na Na Het;A>G 806;67|39 Het;A>G 536;60|28 Hom;A>G 2343;2|85 N N - 12 31226835 31226835 T A snp UTR5 -4493T>A DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7953706 0.626597 0 0 1 0 0 UTR5 UTR5 UTR5 DDX11(NM_004399:c.-4493T>A,NM_001257145:c.-4571T>A,NM_030653:c.-4493T>A,NM_152438:c.-4493T>A,NM_001257144:c.-4493T>A) DDX11(uc010sjw.1:c.-4493T>A,uc001rjt.1:c.-4493T>A,uc001rjr.1:c.-4493T>A,uc001rjv.2:c.-4493T>A,uc001rjw.2:c.-4571T>A,uc001rjs.1:c.-4493T>A,uc001rju.1:c.-16071T>A) ENSG00000013573(ENST00000251758:c.-4493T>A,ENST00000407793:c.-4493T>A,ENST00000542838:c.-4493T>A,ENST00000228264:c.-4571T>A,ENST00000542129:c.-4493T>A,ENST00000438391:c.-4493T>A,ENST00000435753:c.-4493T>A,ENST00000540935:c.-4571T>A,ENST00000539049:c.-4493T>A,ENST00000415475:c.-4571T>A,ENST00000545668:c.-4493T>A,ENST00000350437:c.-4493T>A) Na Na Na Na Na Na Het;T>A 1882;55|74 Het;T>A 1301;66|55 Hom;T>A 2573;0|89 N N - 12 31227175 31227178 ACAG A indel UTR5 -4153_-4150delinsA DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs57389219 0.622404 0 0 1 0 0 intronic intronic UTR5 DDX11 DDX11 ENSG00000013573(ENST00000542244:c.-4153_-4150delinsA) Na Na Na Na Na Na Het;-CAG 190;4|6 Het;-CAG 188;9|6 Hom;-CAG 311;0|8 N N - 12 31237026 31237026 A G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2553134 0.628594 0.4177 0.4971 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>G 621;63|29 Het;A>G 736;37|34 Hom;A>G 1653;0|54 N N - 12 31237372 31237372 A T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3930906 0.627396 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>T 219;16|11 Het;A>T 223;11|9 Hom;A>T 549;0|17 N N - 12 31237700 31237700 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3881296 0.627995 0 0.5357 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 716;24|26 Het;G>A 634;17|22 Hom;G>A 756;0|24 N N - 12 31238075 31238075 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs4931428 0.627796 0.5253 0.5343 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 2057;154|96 Het;G>A 1969;99|94 Hom;G>A 6223;4|228 N N - 12 31240862 31240862 A T snp UTR5 -2044A>T DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7308754 0.629393 0 0.4951 1 0 0 intronic UTR5 intronic DDX11 DDX11(uc001rjx.1:c.-2044A>T) ENSG00000013573 Na Na Na Na Na Na Het;A>T 1213;138|60 Het;A>T 1827;93|74 Hom;A>T 3368;1|115 N N - 12 31240925 31240925 A G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7308773 0.632987 0.5276 0.5076 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>G 1277;159|68 Het;A>G 1901;113|93 Hom;A>G 4363;0|163 N N - 12 31240960 31240960 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7309189 0.632987 0.5303 0.5144 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 1335;108|66 Het;G>A 1864;94|89 Hom;G>A 4270;0|161 N N - 12 31242271 31242271 G A snp UTR5;UTR3 -635G>A DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2005896 0 0 0 1 0 0 intronic UTR5;UTR3 intronic DDX11 DDX11(uc001rjx.1:c.-635G>A);DDX11(uc010sjw.1:c.*81G>A) ENSG00000013573 Na Na Na Na Na Na Het;G>A 727;30|27 Het;G>A 653;22|23 Hom;G>A 1058;0|30 N N - 12 31242314 31242314 T C snp UTR5;UTR3 -592T>C DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2005897 0 0.4473 0.3881 1 0 0 intronic UTR5;UTR3 intronic DDX11 DDX11(uc001rjx.1:c.-592T>C);DDX11(uc010sjw.1:c.*124T>C) ENSG00000013573 Na Na Na Na Na Na Het;T>C 768;49|32 Het;T>C 747;45|33 Hom;T>C 1619;0|56 N N - 12 31242399 31242399 T C snp synonymous SNV T855C C285C polar,hydrophobic,neutral polar,hydrophobic,neutral DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3881298 0.645567 0.5195 0.5214 1 0 0 exonic exonic exonic DDX11 DDX11 ENSG00000013573 synonymous SNV synonymous SNV unknown DDX11:NM_152438:exon8:c.T855C:p.C285C,DDX11:NM_001257145:exon8:c.T777C:p.C259C,DDX11:NM_001257144:exon8:c.T855C:p.C285C,DDX11:NM_030653:exon8:c.T855C:p.C285C,DDX11:NM_004399:exon8:c.T855C:p.C285C, DDX11:uc001rjv.2:exon8:c.T855C:p.C285C,DDX11:uc001rjt.1:exon8:c.T855C:p.C285C,DDX11:uc001rjr.1:exon8:c.T855C:p.C285C,DDX11:uc001rjw.2:exon8:c.T777C:p.C259C,DDX11:uc001rjs.1:exon8:c.T855C:p.C285C, UNKNOWN Het;T>C 1197;90|59 Het;T>C 1887;117|89 Hom;T>C 3253;0|122 N N - 12 31242440 31242440 A G snp UTR5;UTR3 -466A>G DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2075318 0.60643 0.5157 0.4790 1 0 0 intronic UTR5;UTR3 UTR3 DDX11 DDX11(uc001rju.1:c.-466A>G,uc001rjx.1:c.-466A>G);DDX11(uc010sjw.1:c.*250A>G) ENSG00000013573(ENST00000542244:c.*453A>G) Na Na Na Na Na Na Het;A>G 927;75|45 Het;A>G 1720;100|80 Hom;A>G 2955;0|107 N N - 12 31242718 31242718 T C snp UTR5;UTR3 -188T>C DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2005898 0.633786 0 0 1 0 0 intronic UTR5;UTR3 intronic DDX11 DDX11(uc001rju.1:c.-188T>C,uc001rjx.1:c.-188T>C);DDX11(uc010sjw.1:c.*528T>C) ENSG00000013573 Na Na Na Na Na Na Het;T>C 384;15|10 Het;T>C 239;7|7 Hom;T>C 782;0|18 N N - 12 31242725 31242725 T C snp UTR5;UTR3 -181T>C DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs41313157 0.634185 0 0.5299 1 0 0 intronic UTR5;UTR3 intronic DDX11 DDX11(uc001rju.1:c.-181T>C,uc001rjx.1:c.-181T>C);DDX11(uc010sjw.1:c.*535T>C) ENSG00000013573 Na Na Na Na Na Na Het;T>C 417;15|12 Het;T>C 239;9|7 Hom;T>C 892;0|21 N N - 12 31243131 31243131 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2075319 0.515775 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 521;38|25 Het;G>A 325;19|14 Hom;G>A 886;0|30 N N - 12 31244846 31244846 C G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs1808348 0.635184 0.5156 0.5263 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;C>G 4756;210|216 Het;C>G 4795;152|211 Hom;C>G 9238;0|321 N N - 12 31244924 31244924 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs1808349 0.632788 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 1864;75|69 Het;G>A 1886;34|67 Hom;G>A 2664;0|79 N N - 12 31245741 31245741 A G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2075321 0.632788 0 0.5236 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>G 1072;89|51 Het;A>G 1132;53|53 Hom;A>G 3091;0|110 N N - 12 31246371 31246371 C T snp UTR3 *12C>T DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs10843882 0.632588 0 0.5619 1 0 0 intronic UTR3 intronic DDX11 DDX11(uc001rjx.1:c.*12C>T) ENSG00000013573 Na Na Na Na Na Na Het;C>T 1275;28|43 Het;C>T 636;18|23 Hom;C>T 1300;0|39 N N - 12 31246438 31246438 T C snp UTR3 *79T>C DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7970074 0.658347 0 0 1 0 0 intronic UTR3 intronic DDX11 DDX11(uc001rjx.1:c.*79T>C) ENSG00000013573 Na Na Na Na Na Na Het;T>C 615;9|16 Het;T>C 168;4|5 Hom;T>C 332;0|8 N N - 12 31246448 31246448 G A snp UTR3 *89G>A DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7955366 0 0 0 1 0 0 intronic UTR3 intronic DDX11 DDX11(uc001rjx.1:c.*89G>A) ENSG00000013573 Na Na Na Na Na Na Het;G>A 575;9|15 Het;G>A 128;4|4 Hom;G>A 332;0|8 N N - 12 31247480 31247480 T G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs12816960 0.633187 0 0.2382 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;T>G 562;62|28 Het;T>G 565;57|27 Hom;T>G 1306;0|49 N N - 12 31249861 31249861 C G snp nonsynonymous SNV C1699G Q567E polar,hydrophilic,neutral polar,hydrophilic,charged(-) DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2075322 0.641174 0.5298 0.5273 0.17 2 12 exonic exonic exonic DDX11 DDX11 ENSG00000013573 nonsynonymous SNV nonsynonymous SNV unknown DDX11:NM_152438:exon17:c.C1699G:p.Q567E,DDX11:NM_001257145:exon17:c.C1621G:p.Q541E,DDX11:NM_001257144:exon17:c.C1699G:p.Q567E,DDX11:NM_030653:exon17:c.C1699G:p.Q567E,DDX11:NM_004399:exon17:c.C1699G:p.Q567E, DDX11:uc001rjv.2:exon17:c.C1699G:p.Q567E,DDX11:uc001rjt.1:exon17:c.C1699G:p.Q567E,DDX11:uc001rjr.1:exon17:c.C1699G:p.Q567E,DDX11:uc001rju.1:exon16:c.C733G:p.Q245E,DDX11:uc001rjw.2:exon17:c.C1621G:p.Q541E,DDX11:uc001rjs.1:exon17:c.C1699G:p.Q567E, UNKNOWN Het;C>G 2396;125|100 Het;C>G 2381;117|103 Hom;C>G 5577;4|205 N N - 12 31253995 31253995 C T snp synonymous SNV C1983T L661L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs1046456 0.628395 0.5273 0.5259 1 0 0 exonic exonic exonic DDX11 DDX11 ENSG00000013573 synonymous SNV synonymous SNV unknown DDX11:NM_152438:exon20:c.C1983T:p.L661L,DDX11:NM_001257145:exon20:c.C1905T:p.L635L,DDX11:NM_001257144:exon20:c.C1983T:p.L661L,DDX11:NM_030653:exon20:c.C1983T:p.L661L,DDX11:NM_004399:exon20:c.C1983T:p.L661L, DDX11:uc001rjv.2:exon20:c.C1983T:p.L661L,DDX11:uc001rjt.1:exon20:c.C1983T:p.L661L,DDX11:uc001rjr.1:exon20:c.C1983T:p.L661L,DDX11:uc001rju.1:exon19:c.C999T:p.L333L,DDX11:uc001rjw.2:exon20:c.C1905T:p.L635L,DDX11:uc001rjs.1:exon20:c.C1983T:p.L661L, UNKNOWN Het;C>T 2612;130|121 Het;C>T 2000;94|98 Hom;C>T 6066;0|231 N N - 12 31254221 31254221 T G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs6487974 0.630791 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;T>G 555;11|17 Het;T>G 109;7|4 Hom;T>G 646;0|18 N N - 12 31254256 31254256 C T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs6487975 0.632788 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;C>T 310;9|10 Het;C>T 64;5|3 Hom;C>T 370;0|11 N N - 12 31254317 31254317 C A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs6487976 0.632588 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;C>A 170;4|5 Ref Hom;C>A 287;0|7 N N - 12 31254323 31254323 A G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs28456166 0.632788 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>G 170;4|5 Ref Hom;A>G 287;0|7 N N - 12 31254642 31254642 T A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7952861 0.633986 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;T>A 505;11|18 Het;T>A 378;7|13 Hom;T>A 569;0|18 N N - 12 31254701 31254701 G T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7966366 0.616613 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>T 1167;41|45 Het;G>T 894;31|37 Hom;G>T 1805;0|59 N N - 12 31254752 31254752 C T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7966272 0.634585 0.5323 0.5268 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;C>T 1757;90|77 Het;C>T 1614;72|71 Hom;C>T 3779;0|132 N N - 12 31254959 31254959 C T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs7966523 0.631789 0.5321 0.5213 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;C>T 1472;78|58 Het;C>T 1335;27|52 Hom;C>T 2763;0|92 N N - 12 31255055 31255056 TC T indel intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs67695209 0.565096 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;-C 556;24|23 Het;-C 220;12|10 Hom;-C 603;0|20 N N - 12 31255263 31255263 G A snp unknown DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs10771803 0.661142 0.5125 0.5334 1 0 0 intronic intronic exonic DDX11 DDX11 ENSG00000013573 Na Na unknown Na Na UNKNOWN Het;G>A 2703;86|78 Het;G>A 1571;83|75 Hom;G>A 3521;0|104 N N - 12 31255626 31255626 T C snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs10771804 0.634385 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;T>C 236;8|8 Het;T>C 212;12|8 Hom;T>C 547;0|16 N N - 12 31255654 31255654 A G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs2287463 0.634385 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>G 194;10|6 Het;A>G 58;11|3 Hom;A>G 536;0|13 N N - 12 31255772 31255772 A AG indel intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs397715359 0.633986 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;+G 1263;25|43 Het;+G 598;21|22 Hom;+G 1599;0|46 N N - 12 31256075 31256075 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3825318 0.634385 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 509;27|21 Het;G>A 379;17|16 Hom;G>A 1158;2|42 N N - 12 31256164 31256164 G T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3825321 0.630791 0 0 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>T 423;29|20 Het;G>T 365;28|19 Hom;G>T 909;2|39 N N - 12 31256219 31256219 C T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3825324 0.635383 0.5246 0.5598 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;C>T 947;32|26 Het;C>T 967;32|26 Hom;C>T 1547;0|35 N N - 12 31256220 31256220 A G snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3825325 0.635383 0.5239 0.5606 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;A>G 947;32|25 Het;A>G 967;32|26 Hom;A>G 1547;0|35 N N - 12 31256342 31256342 G A snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3925641 0.634385 0.5497 0.5727 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>A 489;23|22 Het;G>A 411;21|19 Hom;G>A 368;0|13 N N - 12 31256368 31256368 G T snp intronic DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs3925642 0.632188 0.5350 0.5632 1 0 0 intronic intronic intronic DDX11 DDX11 ENSG00000013573 Na Na Na Na Na Na Het;G>T 434;23|20 Het;G>T 313;23|14 Hom;G>T 468;0|16 N N - 12 31256546 31256546 G A snp nonsynonymous SNV G2567A R856H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs1046457 0.634185 0.4982 0.5095 0.25 3 12 exonic exonic exonic DDX11 DDX11 ENSG00000013573 nonsynonymous SNV nonsynonymous SNV unknown DDX11:NM_152438:exon26:c.G2567A:p.R856H,DDX11:NM_001257145:exon26:c.G2494A:p.V832I,DDX11:NM_001257144:exon26:c.G2567A:p.R856H,DDX11:NM_030653:exon26:c.G2572A:p.V858I,DDX11:NM_004399:exon25:c.G2422A:p.V808I, DDX11:uc001rjv.2:exon26:c.G2567A:p.R856H,DDX11:uc001rjt.1:exon26:c.G2567A:p.R856H,DDX11:uc009zjo.1:exon2:c.G74A:p.R25H,DDX11:uc001rjr.1:exon26:c.G2572A:p.V858I,DDX11:uc001rju.1:exon25:c.G1588A:p.V530I,DDX11:uc001rjw.2:exon26:c.G2494A:p.V832I,DDX11:uc001rjs.1:exon25:c.G2422A:p.V808I, UNKNOWN Het;G>A 1943;114|92 Het;G>A 2053;123|94 Hom;G>A 5129;2|191 N N - 12 31256905 31256905 T C snp nonsynonymous SNV T2851C C951R polar,hydrophobic,neutral polar,hydrophilic,charged(+) DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs1046458 0.638379 0 0.4082 0.08 1 12 exonic exonic exonic DDX11 DDX11 ENSG00000013573 nonsynonymous SNV nonsynonymous SNV unknown DDX11:NM_152438:exon27:c.T2851C:p.C951R,DDX11:NM_001257144:exon27:c.T2851C:p.C951R, DDX11:uc001rjv.2:exon27:c.T2851C:p.C951R,DDX11:uc001rjt.1:exon27:c.T2851C:p.C951R,DDX11:uc009zjo.1:exon3:c.T358C:p.C120R, UNKNOWN Het;T>C 2696;109|109 Het;T>C 1947;105|90 Hom;T>C 4678;0|153 N N - 12 31257327 31257327 T C snp UTR3 *2599T>C DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs1046467 0.630391 0 0 1 0 0 UTR3 UTR3 UTR3 DDX11(NM_004399:c.*557T>C,NM_001257145:c.*557T>C,NM_030653:c.*557T>C,NM_152438:c.*360T>C,NM_001257144:c.*360T>C) DDX11(uc001rjt.1:c.*360T>C,uc001rjr.1:c.*557T>C,uc001rjv.2:c.*360T>C,uc001rjw.2:c.*557T>C,uc001rjs.1:c.*557T>C,uc001rju.1:c.*557T>C,uc009zjo.1:c.*360T>C) ENSG00000013573(ENST00000251758:c.*2599T>C,ENST00000407793:c.*360T>C,ENST00000228264:c.*557T>C,ENST00000435753:c.*2697T>C,ENST00000539049:c.*1965T>C,ENST00000545668:c.*360T>C,ENST00000350437:c.*557T>C) Na Na Na Na Na Na Het;T>C 1734;61|62 Het;T>C 1396;75|54 Hom;T>C 3295;0|104 N N - 12 31257464 31257464 G A snp UTR3 *2736G>A DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs9750 0.634784 0 0 1 0 0 UTR3 UTR3 UTR3 DDX11(NM_004399:c.*694G>A,NM_001257145:c.*694G>A,NM_030653:c.*694G>A,NM_152438:c.*497G>A,NM_001257144:c.*497G>A) DDX11(uc001rjt.1:c.*497G>A,uc001rjr.1:c.*694G>A,uc001rjv.2:c.*497G>A,uc001rjw.2:c.*694G>A,uc001rjs.1:c.*694G>A,uc001rju.1:c.*694G>A,uc009zjo.1:c.*497G>A) ENSG00000013573(ENST00000251758:c.*2736G>A,ENST00000407793:c.*497G>A,ENST00000228264:c.*694G>A,ENST00000435753:c.*2834G>A,ENST00000539049:c.*2102G>A,ENST00000545668:c.*497G>A,ENST00000350437:c.*694G>A) Na Na Na Na Na Na Het;G>A 1891;96|83 Het;G>A 1862;57|87 Hom;G>A 4163;0|154 N N - 12 31257695 31257695 T C snp UTR3 *2967T>C DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs11219 0.634585 0 0 1 0 0 UTR3 UTR3 UTR3 DDX11(NM_004399:c.*925T>C,NM_001257145:c.*925T>C,NM_030653:c.*925T>C,NM_152438:c.*728T>C,NM_001257144:c.*728T>C) DDX11(uc001rjt.1:c.*728T>C,uc001rjr.1:c.*925T>C,uc001rjv.2:c.*728T>C,uc001rjw.2:c.*925T>C,uc001rjs.1:c.*925T>C,uc001rju.1:c.*925T>C,uc009zjo.1:c.*728T>C) ENSG00000013573(ENST00000251758:c.*2967T>C,ENST00000407793:c.*728T>C,ENST00000228264:c.*925T>C,ENST00000435753:c.*3065T>C,ENST00000539049:c.*2333T>C,ENST00000545668:c.*728T>C,ENST00000350437:c.*925T>C) Na Na Na Na Na Na Het;T>C 1143;43|51 Het;T>C 524;42|27 Hom;T>C 2379;0|86 N N - 12 31258697 31258697 A AGCT indel downstream DDX11 Ddx11 ENSG00000013573 DEAD/H-box helicase 11 chr12:31226779-31257725 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] WARSAW BREAKAGE SYNDROME Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. XBP1(S) activates chaperone genes GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007062;sister chromatid cohesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031297;replication fork processing;IMP|GO:0032079;positive regulation of endodeoxyribonuclease activity;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032508;DNA duplex unwinding;IDA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0044806;G-quadruplex DNA unwinding;IDA|GO:0045876;positive regulation of sister chromatid cohesion;IMP|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:1990700;nucleolar chromatin organization;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0000922;spindle pole;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA|GO:0031390;Ctf18 RFC-like complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IDA|GO:0003688;DNA replication origin binding;IMP|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IDA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0045142;triplex DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0051880;G-quadruplex DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDX11 https://www.uniprot.org/uniprot/Q96FC9 https://hpo.jax.org/app/browse/search?q=DDX11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601150 http://www.informatics.jax.org/searchtool/Search.do?query=DDX11&submit=Quick%0D%599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX11 rs35307417 0.633786 0 0 1 0 0 downstream downstream ncRNA_intronic DDX11 DDX11 ENSG00000270926 Na Na Na Na Na Na Het;+GCT 164;3|5 Het;+GCT 62;9|3 Hom;+GCT 323;0|8 N N - 12 31258718 31258718 C G snp ncRNA_exonic AC008013.3 rs1974751 0.632788 0 0 1 0 0 downstream downstream ncRNA_exonic DDX11 DDX11 ENSG00000270926 Na Na Na Na Na Na Het;C>G 173;3|5 Het;C>G 110;10|4 Hom;C>G 332;0|8 N N - 12 31258728 31258728 C T snp ncRNA_exonic AC008013.3 rs1974752 0.632987 0 0 1 0 0 intergenic intergenic ncRNA_exonic DDX11(dist=1003),FAM60A(dist=174792) DDX11(dist=1003),DKFZp434C0631(dist=5858) ENSG00000270926 Na Na Na Na Na Na Het;C>T 216;3|7 Het;C>T 110;10|4 Hom;C>T 357;0|9 N N - 12 31258947 31258947 C A snp ncRNA_intronic AC008013.3 rs3862401 0.633986 0 0 1 0 0 intergenic intergenic ncRNA_intronic DDX11(dist=1222),FAM60A(dist=174573) DDX11(dist=1222),DKFZp434C0631(dist=5639) ENSG00000270926 Na Na Na Na Na Na Het;C>A 62;5|3 Het;C>A 118;2|5 Hom;C>A 110;0|5 N N - 12 31259027 31259027 C CAGGT indel ncRNA_exonic AC008013.3 rs10663881 0.631789 0 0 1 0 0 intergenic intergenic ncRNA_exonic DDX11(dist=1302),FAM60A(dist=174493) DDX11(dist=1302),DKFZp434C0631(dist=5559) ENSG00000270926 Na Na Na Na Na Na Het;+AGGT 134;13|5 Het;+AGGT 413;4|11 Hom;+AGGT 413;0|10 N N - 12 31263633 31263633 T C snp downstream AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs78123944 0.532348 0 0 1 0 0 intergenic downstream downstream DDX11(dist=5908),FAM60A(dist=169887) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;T>C 457;52|26 Het;T>C 1481;34|39 Hom;T>C 1632;2|44 N N - 12 31263635 31263635 T C snp downstream AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs74456729 0.569489 0 0 1 0 0 intergenic downstream downstream DDX11(dist=5910),FAM60A(dist=169885) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;T>C 1366;45|50 Het;T>C 1529;33|39 Hom;T>C 2926;1|66 N N - 12 31263637 31263637 T C snp downstream AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs78601272 0.519569 0 0 1 0 0 intergenic downstream downstream DDX11(dist=5912),FAM60A(dist=169883) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;T>C 2128;43|53 Het;T>C 1529;33|39 Hom;T>C 2976;1|65 N N - 12 31263639 31263639 T C snp downstream AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs774566027 0 0 0 1 0 0 intergenic downstream downstream DDX11(dist=5914),FAM60A(dist=169881) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;T>C 2068;42|51 Het;T>C 1547;34|37 Hom;T>C 2937;1|65 N N - 12 31263752 31263752 A C snp downstream AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs4931433 0.638179 0 0 1 0 0 intergenic downstream downstream DDX11(dist=6027),FAM60A(dist=169768) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;A>C 243;36|14 Het;A>C 942;22|25 Hom;A>C 1523;0|40 N N - 12 31264743 31264743 C T snp ncRNA_exonic DKFZp434C0631 rs4930953 0.64377 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic DDX11(dist=7018),FAM60A(dist=168777) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;C>T 1042;64|48 Het;C>T 785;46|37 Hom;C>T 2547;0|95 N N - 12 31264770 31264770 A G snp ncRNA_exonic AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs1053552 0.64357 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_exonic DDX11(dist=7045),FAM60A(dist=168750) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;A>G 787;56|34 Het;A>G 518;40|24 Hom;A>G 1606;0|52 N N - 12 31265872 31265872 C T snp ncRNA_exonic AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs2302849 0.63738 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_exonic DDX11(dist=8147),FAM60A(dist=167648) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;C>T 78;3|6 Het;C>T 83;4|5 Hom;C>T 198;0|8 N N - 12 31265925 31265925 C G snp ncRNA_exonic;splicing ENSG00000177359 rs2302850 0.63738 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic;splicing DDX11(dist=8200),FAM60A(dist=167595) DKFZp434C0631 ENSG00000177359;ENSG00000177359(ENST00000518559:exon33:c.4259+1G>C) Na Na Na Na Na Na Het;C>G 160;7|8 Het;C>G 165;7|8 Hom;C>G 453;0|18 N N - 12 31265983 31265983 G A snp ncRNA_exonic DKFZp434C0631 rs1053534 0.63758 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic DDX11(dist=8258),FAM60A(dist=167537) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;G>A 197;6|10 Het;G>A 128;6|8 Hom;G>A 368;0|15 N N - 12 31266042 31266042 C T snp ncRNA_intronic DKFZp434C0631 rs2302853 0.63758 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic DDX11(dist=8317),FAM60A(dist=167478) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;C>T 135;1|7 Het;C>T 84;3|5 Hom;C>T 141;0|6 N N - 12 31267744 31267744 A C snp nonsynonymous SNV T4125G H1375Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral OVOS2 BC048546 rs7968684 0.637181 0 0.5091 1 0 0 intergenic exonic ncRNA_intronic DDX11(dist=10019),FAM60A(dist=165776) OVOS2 ENSG00000177359 Na nonsynonymous SNV Na Na OVOS2:uc010sjy.1:exon30:c.T4125G:p.H1375Q, Na Het;A>C 167;25|11 Ref Hom;A>C 500;0|20 N N - 12 31270149 31270149 G C snp nonsynonymous SNV C3720G C1240W polar,hydrophobic,neutral aromatic,hydrophobic,neutral OVOS2 BC048546 rs7316147 0 0.0023 0.3743 1 0 0 intergenic exonic ncRNA_exonic DDX11(dist=12424),FAM60A(dist=163371) OVOS2 ENSG00000177359 Na nonsynonymous SNV Na Na OVOS2:uc010sjy.1:exon28:c.C3720G:p.C1240W, Na Het;G>C 110;10|4 Ref Hom;G>C 134;0|4 N N - 12 31270150 31270150 C A snp nonsynonymous SNV G3719T C1240F polar,hydrophobic,neutral aromatic,hydrophobic,neutral OVOS2 BC048546 rs7315923 0 0.0008 0.3739 1 0 0 intergenic exonic ncRNA_exonic DDX11(dist=12425),FAM60A(dist=163370) OVOS2 ENSG00000177359 Na nonsynonymous SNV Na Na OVOS2:uc010sjy.1:exon28:c.G3719T:p.C1240F, Na Het;C>A 110;10|4 Ref Hom;C>A 134;0|4 N N - 12 31270171 31270171 T C snp ncRNA_exonic AC024940.1 ENSG00000177359 chr12:31477250-31478879 GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004866;endopeptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC024940.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC024940.1&submit=Quick%0D%14010ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC024940.1 rs7301557 0.736621 0 0.4995 1 0 0 intergenic ncRNA_intronic ncRNA_exonic DDX11(dist=12446),FAM60A(dist=163349) DKFZp434C0631 ENSG00000177359 Na Na Na Na Na Na Het;T>C 74;8|3 Ref Hom;T>C 189;0|6 N N - 12 3147080 3147080 C T snp intronic TEAD4 Tead4 ENSG00000197905 TEA domain transcription factor 4 chr12:3068496-3149839 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele die prior to somitogenesis, lack trophoblast stem cells and develop abnormally. RUNX3 regulates YAP1-mediated transcription GO:0001501;skeletal system development;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007517;muscle organ development;TAS|GO:0035329;hippo signaling;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0048568;embryonic organ development;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TEAD4 https://www.ncbi.nlm.nih.gov/omim/?term=601714 http://www.informatics.jax.org/searchtool/Search.do?query=TEAD4&submit=Quick%0D%16751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEAD4 rs3741951 0.290735 0 0 1 0 0 intronic intronic intronic TEAD4 TEAD4 ENSG00000197905 Na Na Na Na Na Na Het;C>T 429;16|15 Het;C>T 336;26|18 Hom;C>T 1152;0|39 N N - 12 31595978 31595978 T TTG indel intronic DENND5B Dennd5b ENSG00000170456 DENN domain containing 5B chr12:31535157-31744031 Knockout decreases triglyceride absorption, and reduces susceptibility to weight gain and atherosclerosis when fed Western diet. Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. RAB GEFs exchange GTP for GDP on RABs GO:0043547;positive regulation of GTPase activity;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0061024;membrane organization;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005262;calcium channel activity;IBA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND5B https://www.ncbi.nlm.nih.gov/omim/?term=617279 http://www.informatics.jax.org/searchtool/Search.do?query=DENND5B&submit=Quick%0D%12709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND5B rs397821553 0.770767 0 0 1 0 0 intronic intronic intronic DENND5B DENND5B ENSG00000170456 Na Na Na Na Na Na Het;+TG 249;1|9 Het;+TG 252;1|9 Hom;+TG 69;0|3 N N - 12 319111 319111 T C snp synonymous SNV A42G A14A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC6A12 Slc6a12 ENSG00000111181 solute carrier family 6 member 12 chr12:299243-323736 asthma; Hyperparathyroidism, Secondary; Alzheimer's disease ; several psychiatric disorders Mice homozygous for a targeted allele exhibit normal seizure threshold. Reuptake of GABA GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015812;gamma-aminobutyric acid transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005332;gamma-aminobutyric acid:sodium symporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A12 https://www.uniprot.org/uniprot/P48065 https://www.ncbi.nlm.nih.gov/omim/?term=603080 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A12&submit=Quick%0D%4033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A12 rs526690 0.529153 0.5942 0.5272 1 0 0 exonic exonic exonic SLC6A12 SLC6A12 ENSG00000111181 synonymous SNV synonymous SNV unknown SLC6A12:NM_001206931:exon2:c.A42G:p.A14A,SLC6A12:NM_001122847:exon3:c.A42G:p.A14A,SLC6A12:NM_003044:exon4:c.A42G:p.A14A,SLC6A12:NM_001122848:exon3:c.A42G:p.A14A, SLC6A12:uc009zdh.2:exon2:c.A42G:p.A14A,SLC6A12:uc001qia.3:exon3:c.A42G:p.A14A,SLC6A12:uc001qib.3:exon3:c.A42G:p.A14A,SLC6A12:uc001qhz.3:exon4:c.A42G:p.A14A, UNKNOWN Het;T>C 1646;85|79 Het;T>C 1664;85|80 Hom;T>C 4268;1|156 N N - 12 319125 319125 A G snp nonsynonymous SNV T28C C10R polar,hydrophobic,neutral polar,hydrophilic,charged(+) SLC6A12 Slc6a12 ENSG00000111181 solute carrier family 6 member 12 chr12:299243-323736 asthma; Hyperparathyroidism, Secondary; Alzheimer's disease ; several psychiatric disorders Mice homozygous for a targeted allele exhibit normal seizure threshold. Reuptake of GABA GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015812;gamma-aminobutyric acid transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0005332;gamma-aminobutyric acid:sodium symporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A12 https://www.uniprot.org/uniprot/P48065 https://www.ncbi.nlm.nih.gov/omim/?term=603080 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A12&submit=Quick%0D%4033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A12 rs557881 0.52496 0.5877 0.5238 0.08 1 13 exonic exonic exonic SLC6A12 SLC6A12 ENSG00000111181 nonsynonymous SNV nonsynonymous SNV unknown SLC6A12:NM_001206931:exon2:c.T28C:p.C10R,SLC6A12:NM_001122847:exon3:c.T28C:p.C10R,SLC6A12:NM_003044:exon4:c.T28C:p.C10R,SLC6A12:NM_001122848:exon3:c.T28C:p.C10R, SLC6A12:uc009zdh.2:exon2:c.T28C:p.C10R,SLC6A12:uc001qia.3:exon3:c.T28C:p.C10R,SLC6A12:uc001qib.3:exon3:c.T28C:p.C10R,SLC6A12:uc001qhz.3:exon4:c.T28C:p.C10R, UNKNOWN Het;A>G 1537;83|68 Het;A>G 1513;74|70 Hom;A>G 3965;0|139 N N - 12 32943927 32943927 C T snp UTR3 *1431G>A PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs1046150 0.469649 0 0 1 0 0 UTR3 UTR3 UTR3 PKP2(NM_004572:c.*1431G>A,NM_001005242:c.*1431G>A) PKP2(uc001rlj.4:c.*1431G>A,uc001rlk.4:c.*1431G>A,uc010skj.2:c.*1431G>A) ENSG00000057294(ENST00000340811:c.*1431G>A,ENST00000070846:c.*1431G>A) Na Na Na Na Na Na Het;C>T 284;9|12 Het;C>T 156;12|8 Hom;C>T 95;0|4 N N - 12 32944158 32944159 CA C indel UTR3 *1200_*1199delinsG PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs11476598 0.463658 0 0 1 0 0 UTR3 UTR3 UTR3 PKP2(NM_004572:c.*1200_*1199delinsG,NM_001005242:c.*1200_*1199delinsG) PKP2(uc001rlj.4:c.*1200_*1199delinsG,uc001rlk.4:c.*1200_*1199delinsG,uc010skj.2:c.*1200_*1199delinsG) ENSG00000057294(ENST00000340811:c.*1200_*1199delinsG,ENST00000070846:c.*1200_*1199delinsG) Na Na Na Na Na Na Het;-A 1190;53|34 Het;-A 872;33|25 Hom;-A 2518;1|57 N N - 12 32944162 32944162 C T snp UTR3 *1196G>A PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs1046138 0.463458 0 0 1 0 0 UTR3 UTR3 UTR3 PKP2(NM_004572:c.*1196G>A,NM_001005242:c.*1196G>A) PKP2(uc001rlj.4:c.*1196G>A,uc001rlk.4:c.*1196G>A,uc010skj.2:c.*1196G>A) ENSG00000057294(ENST00000340811:c.*1196G>A,ENST00000070846:c.*1196G>A) Na Na Na Na Na Na Het;C>T 1253;53|34 Het;C>T 881;33|23 Hom;C>T 2528;1|57 N N - 12 32944546 32944546 G A snp UTR3 *812C>T PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs9394 0.35643 0 0 1 0 0 UTR3 UTR3 UTR3 PKP2(NM_004572:c.*812C>T,NM_001005242:c.*812C>T) PKP2(uc001rlj.4:c.*812C>T,uc001rlk.4:c.*812C>T,uc010skj.2:c.*812C>T) ENSG00000057294(ENST00000340811:c.*812C>T,ENST00000070846:c.*812C>T) Na Na Na Na Na Na Het;G>A 629;26|30 Het;G>A 795;33|35 Hom;G>A 2493;0|92 N N - 12 32945107 32945107 G C snp UTR3 *251C>G PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs12612 0.451078 0 0 1 0 0 UTR3 UTR3 UTR3 PKP2(NM_004572:c.*251C>G,NM_001005242:c.*251C>G) PKP2(uc001rlj.4:c.*251C>G,uc001rlk.4:c.*251C>G,uc010skj.2:c.*251C>G) ENSG00000057294(ENST00000340811:c.*251C>G,ENST00000070846:c.*251C>G) Na Na Na Na Na Na Het;G>C 1173;94|56 Het;G>C 1025;85|48 Hom;G>C 3879;0|139 N N - 12 32945495 32945495 C T snp intronic PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs7956824 0.450479 0 0 1 0 0 intronic intronic intronic PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;C>T 664;37|25 Het;C>T 855;23|32 Hom;C>T 1781;0|54 N N - 12 32945721 32945721 G T snp intronic PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs6488091 0.45028 0.6404 0 1 0 0 intronic intronic intronic PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;G>T 1737;80|71 Het;G>T 1269;55|57 Hom;G>T 3124;2|114 N N - 12 32945769 32945769 G C snp intronic PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs6488092 0.466853 0 0 1 0 0 intronic intronic intronic PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;G>C 1002;45|39 Het;G>C 740;22|28 Hom;G>C 1028;0|35 N N - 12 32945835 32945835 G A snp intronic PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs7957460 0.450479 0 0 1 0 0 intronic intronic intronic PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;G>A 514;19|16 Het;G>A 143;6|5 Hom;G>A 407;0|11 N N - 12 32948969 32948970 CA C indel intronic PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs71447623 0.249401 0 0 1 0 0 intronic intronic intronic PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;-A 269;10|8 Ref Hom;-A 188;0|5 N N - 12 32948971 32948971 C T snp intronic PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs61927769 0.249401 0 0 1 0 0 intronic intronic intronic PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;C>T 278;10|8 Ref Hom;C>T 197;0|5 N N - 12 33049781 33049781 G A snp upstream PKP2 Pkp2 ENSG00000057294 plakophilin 2 chr12:32943679-33049774 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] null; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies; cardiomyopathy Homozygous null mice display embryonic lethality with impaired heart formation, hemopericardium, and hemoperitoneum. Formation of the cornified envelope GO:0002159;desmosome assembly;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;ISS|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010765;positive regulation of sodium ion transport;ISS|GO:0016264;gap junction assembly;ISS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030336;negative regulation of cell migration;ISS|GO:0031424;keratinization;TAS|GO:0034334;adherens junction maintenance;ISS|GO:0045110;intermediate filament bundle assembly;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0055088;lipid homeostasis;ISS|GO:0065009;regulation of molecular function;IEA|GO:0070268;cornification;TAS|GO:0086001;cardiac muscle cell action potential;ISS|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086019;cell-cell signaling involved in cardiac conduction;IMP|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:2000810;regulation of bicellular tight junction assembly;ISS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;ISS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0005912;adherens junction;ISS|GO:0014704;intercalated disc;IDA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0030057;desmosome;IEA GO:0003674;molecular_function;ND|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0017080;sodium channel regulator activity;ISS|GO:0019215;intermediate filament binding;IDA|GO:0032947;protein complex scaffold;IMP|GO:0044325;ion channel binding;ISS|GO:0045294;alpha-catenin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/PKP2 https://www.uniprot.org/uniprot/Q99959 https://hpo.jax.org/app/browse/search?q=PKP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602861 http://www.informatics.jax.org/searchtool/Search.do?query=PKP2&submit=Quick%0D%1018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP2 rs187291890 0.332468 0 0 1 0 0 upstream upstream upstream PKP2 PKP2 ENSG00000057294 Na Na Na Na Na Na Het;G>A 91;6|4 Ref Hom;G>A 219;0|6 N N - 12 39233771 39233771 A G snp intronic CPNE8 Cpne8 ENSG00000139117 copine 8 chr12:39040624-39301232 Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008] Cholesterol; Lipoprotein(a); Waist-Hip Ratio; Blood Pressure GO:0008150;biological_process;ND GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CPNE8 https://www.uniprot.org/uniprot/Q86YQ8 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE8&submit=Quick%0D%7829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE8 rs3803020 0.303914 0.3729 0.4528 1 0 0 intronic intronic intronic CPNE8 CPNE8 ENSG00000139117 Na Na Na Na Na Na Het;A>G 426;6|20 Ref Hom;A>G 1091;0|42 N N - 12 40301611 40301611 C T snp UTR3 *1174C>T C12orf40 CN725425 ENSG00000180116 chromosome 12 open reading frame 40 chr12:40019969-40302102 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C12orf40 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf40&submit=Quick%0D%14437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf40 rs11174235 0.329673 0 0 1 0 0 intronic intronic UTR3 SLC2A13 SLC2A13 ENSG00000180116(ENST00000468200:c.*1174C>T) Na Na Na Na Na Na Het;C>T 1366;70|62 Ref Hom;C>T 5116;2|178 N N - 12 40634158 40634158 T C snp intronic LRRK2 Lrrk2 ENSG00000188906 leucine rich repeat kinase 2 chr12:40590546-40763087 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008] Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy. PTK6 promotes HIF1A stabilization GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/LRRK2 https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609007 http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2 rs6581622 0.218251 0 0 1 0 0 intronic intronic intronic LRRK2 LRRK2 ENSG00000188906 Na Na Na Na Na Na Het;T>C 162;1|5 Ref Hom;T>C 127;0|4 N N - 12 40740835 40740835 T G snp intronic LRRK2 Lrrk2 ENSG00000188906 leucine rich repeat kinase 2 chr12:40590546-40763087 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008] Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy. PTK6 promotes HIF1A stabilization GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/LRRK2 https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609007 http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2 rs74467833 0.203874 0 0 1 0 0 intronic intronic intronic LRRK2 LRRK2 ENSG00000188906 Na Na Na Na Na Na Het;T>G 267;4|8 Het;T>G 196;2|6 Hom;T>G 287;0|7 N N - 12 40900819 40900819 A G snp unknown MUC19 rs2638882 0.679712 0 0 1 0 0 exonic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=38033) ENSG00000205592 unknown Na Na UNKNOWN Na Na Het;A>G 1713;53|75 Het;A>G 1266;47|56 Hom;A>G 3584;0|130 N N - 12 40908265 40908265 A G snp intronic MUC19 rs4768284 0.366014 0 0 1 0 0 intronic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=30587) ENSG00000205592 Na Na Na Na Na Na Het;A>G 4266;40|128 Het;A>G 2524;130|70 Hom;A>G 5397;1|178 N N - 12 40917312 40917312 C T snp intronic MUC19 rs2920820 0.366214 0 0 1 0 0 intronic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=21540) ENSG00000205592 Na Na Na Na Na Na Het;C>T 1375;40|56 Ref Hom;C>T 2501;0|83 N N - 12 40920110 40920110 T C snp unknown MUC19 rs2933351 0.656949 0 0 1 0 0 exonic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=18742) ENSG00000205592 unknown Na Na UNKNOWN Na Na Het;T>C 2363;88|107 Het;T>C 1897;87|94 Hom;T>C 5613;2|214 N N - 12 40922104 40922104 A C snp unknown MUC19 rs1444220 0.363019 0 0 1 0 0 exonic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=16748) ENSG00000205592 unknown Na Na UNKNOWN Na Na Het;A>C 1146;84|57 Ref Hom;A>C 3789;0|135 N N - 12 40925908 40925908 A C snp intronic MUC19 rs7139187 0.65655 0 0.6655 1 0 0 intronic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=12944) ENSG00000205592 Na Na Na Na Na Na Het;A>C 818;44|33 Het;A>C 972;26|44 Hom;A>C 2157;0|74 N N - 12 40927890 40927890 T G snp intronic MUC19 rs7977973 0.324481 0 0 1 0 0 intronic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=10962) ENSG00000205592 Na Na Na Na Na Na Het;T>G 904;33|38 Ref Hom;T>G 2127;0|68 N N - 12 40930709 40930709 G C snp intronic MUC19 rs7971316 0.617212 0 0.6383 1 0 0 intronic intergenic intronic MUC19 NONE(dist=NONE),MUC19(dist=8143) ENSG00000205592 Na Na Na Na Na Na Het;G>C 470;11|19 Het;G>C 290;22|16 Hom;G>C 1654;0|63 N N - 12 40952934 40952934 A G snp intronic MUC19 rs1352938 0.613219 0 0 1 0 0 intronic intronic intronic MUC19 MUC19 ENSG00000205592 Na Na Na Na Na Na Het;A>G 69;6|3 Het;A>G 112;5|4 Hom;A>G 322;0|10 N N - 12 41014371 41014371 G C snp intergenic MUC19 rs6581844 0.516773 0 0 1 0 0 intergenic intergenic intergenic MUC19(dist=49814),CNTN1(dist=71873) NONE(dist=NONE),CNTN1(dist=71873) ENSG00000205592(dist=49809),ENSG00000018236(dist=71873) Na Na Na Na Na Na Het;G>C 421;17|16 Het;G>C 344;14|12 Hom;G>C 592;0|20 N N - 12 41582590 41582590 G C snp synonymous SNV G333C R111R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PDZRN4 Pdzrn4 ENSG00000165966 PDZ domain containing ring finger 4 chr12:41582250-41968392 Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4 https://www.ncbi.nlm.nih.gov/omim/?term=609730 http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4 rs10879830 0.729233 0.7643 0.7858 1 0 0 exonic exonic exonic PDZRN4 PDZRN4 ENSG00000165966 synonymous SNV synonymous SNV unknown PDZRN4:NM_001164595:exon1:c.G333C:p.R111R, PDZRN4:uc010skn.2:exon1:c.G333C:p.R111R, UNKNOWN Het;G>C 365;9|10 Ref Hom;G>C 1021;0|24 N N - 12 41582603 41582603 G C snp nonsynonymous SNV G346C G116R aliphatic,neutral polar,hydrophilic,charged(+) PDZRN4 Pdzrn4 ENSG00000165966 PDZ domain containing ring finger 4 chr12:41582250-41968392 Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4 https://www.ncbi.nlm.nih.gov/omim/?term=609730 http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4 rs10879831 0.608626 0 0.7628 0.10 1 10 exonic exonic exonic PDZRN4 PDZRN4 ENSG00000165966 nonsynonymous SNV nonsynonymous SNV unknown PDZRN4:NM_001164595:exon1:c.G346C:p.G116R, PDZRN4:uc010skn.2:exon1:c.G346C:p.G116R, UNKNOWN Het;G>C 371;7|10 Ref Hom;G>C 996;0|23 N N - 12 41588124 41588124 A G snp intronic PDZRN4 Pdzrn4 ENSG00000165966 PDZ domain containing ring finger 4 chr12:41582250-41968392 Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4 https://www.ncbi.nlm.nih.gov/omim/?term=609730 http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4 rs3847980 0.662141 0 0 1 0 0 intronic intronic intronic PDZRN4 PDZRN4 ENSG00000165966 Na Na Na Na Na Na Het;A>G 566;20|19 Ref Hom;A>G 740;0|19 N N - 12 41949370 41949370 T G snp intronic PDZRN4 Pdzrn4 ENSG00000165966 PDZ domain containing ring finger 4 chr12:41582250-41968392 Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4 https://www.ncbi.nlm.nih.gov/omim/?term=609730 http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4 rs285580 0.666733 0 0 1 0 0 intronic intronic intronic PDZRN4 PDZRN4 ENSG00000165966 Na Na Na Na Na Na Het;T>G 198;3|7 Ref Hom;T>G 609;0|16 N N - 12 41957568 41957568 C T snp intronic PDZRN4 Pdzrn4 ENSG00000165966 PDZ domain containing ring finger 4 chr12:41582250-41968392 Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4 https://www.ncbi.nlm.nih.gov/omim/?term=609730 http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4 rs157971 0.792931 0 0 1 0 0 intronic intronic intronic PDZRN4 PDZRN4 ENSG00000165966 Na Na Na Na Na Na Het;C>T 393;9|14 Het;C>T 210;8|8 Hom;C>T 685;0|23 N N - 12 43962575 43962575 T C snp downstream AC090525.2 rs10467091 0.822085 0 0 1 0 0 intergenic intergenic downstream ADAMTS20(dist=16851),PUS7L(dist=159835) ADAMTS20(dist=16851),PUS7L(dist=159835) ENSG00000257813 Na Na Na Na Na Na Het;T>C 345;7|12 Ref Hom;T>C 589;0|23 N N - 12 43963009 43963009 G A snp downstream AC090525.2 rs4385953 0.777756 0 0 1 0 0 intergenic intergenic downstream ADAMTS20(dist=17285),PUS7L(dist=159401) ADAMTS20(dist=17285),PUS7L(dist=159401) ENSG00000257813 Na Na Na Na Na Na Het;G>A 987;36|42 Ref Hom;G>A 2172;0|74 N N - 12 43965171 43965171 T G snp ncRNA_exonic AC090525.2 rs7973473 0.444089 0 0 1 0 0 intergenic intergenic ncRNA_exonic ADAMTS20(dist=19447),PUS7L(dist=157239) ADAMTS20(dist=19447),PUS7L(dist=157239) ENSG00000257813 Na Na Na Na Na Na Het;T>G 648;41|30 Ref Hom;T>G 1880;0|63 N N - 12 43965280 43965280 T C snp ncRNA_exonic AC090525.2 rs7973586 0.667133 0 0 1 0 0 intergenic intergenic ncRNA_exonic ADAMTS20(dist=19556),PUS7L(dist=157130) ADAMTS20(dist=19556),PUS7L(dist=157130) ENSG00000257813 Na Na Na Na Na Na Het;T>C 1086;46|46 Ref Hom;T>C 2762;0|99 N N - 12 44130123 44130124 GA G indel intronic PUS7L Pus7l ENSG00000129317 pseudouridylate synthase 7 like chr12:44122410-44152620 Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone GO:0001522;pseudouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0009982;pseudouridine synthase activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PUS7L https://www.uniprot.org/uniprot/Q9H0K6 http://www.informatics.jax.org/searchtool/Search.do?query=PUS7L&submit=Quick%0D%6240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS7L rs113047505 0.188299 0 0 1 0 0 intronic intronic intronic PUS7L PUS7L ENSG00000129317 Na Na Na Na Na Na Het;-A 281;9|13 Ref Hom;-A 464;0|17 N N - 12 44132250 44132250 T A snp ncRNA_intronic AC093012.1 rs10880558 0.226238 0.1245 0 1 0 0 intronic intronic ncRNA_intronic PUS7L PUS7L ENSG00000257896 Na Na Na Na Na Na Het;T>A 305;30|18 Ref Hom;T>A 1109;2|42 N N - 12 44139805 44139805 A T snp intronic PUS7L Pus7l ENSG00000129317 pseudouridylate synthase 7 like chr12:44122410-44152620 Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone GO:0001522;pseudouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0009982;pseudouridine synthase activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PUS7L https://www.uniprot.org/uniprot/Q9H0K6 http://www.informatics.jax.org/searchtool/Search.do?query=PUS7L&submit=Quick%0D%6240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS7L rs11182246 0.271166 0.2458 0.1728 1 0 0 intronic intronic intronic PUS7L PUS7L ENSG00000129317 Na Na Na Na Na Na Het;A>T 423;7|15 Ref Hom;A>T 774;0|27 N N - 12 44148259 44148259 T C snp nonsynonymous SNV A790G K264E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) PUS7L Pus7l ENSG00000129317 pseudouridylate synthase 7 like chr12:44122410-44152620 Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone GO:0001522;pseudouridine synthesis;IEA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0009982;pseudouridine synthase activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PUS7L https://www.uniprot.org/uniprot/Q9H0K6 http://www.informatics.jax.org/searchtool/Search.do?query=PUS7L&submit=Quick%0D%6240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS7L rs1057190 0.267772 0.2500 0.1584 0.23 3 13 exonic exonic exonic PUS7L PUS7L ENSG00000129317 nonsynonymous SNV nonsynonymous SNV unknown PUS7L:NM_001098615:exon2:c.A790G:p.K264E,PUS7L:NM_001098614:exon2:c.A790G:p.K264E,PUS7L:NM_031292:exon2:c.A790G:p.K264E, PUS7L:uc001rns.5:exon2:c.A790G:p.K264E,PUS7L:uc001rnq.5:exon2:c.A790G:p.K264E,PUS7L:uc001rnr.5:exon2:c.A790G:p.K264E, UNKNOWN Het;T>C 2206;72|95 Ref Hom;T>C 7747;2|292 N N - 12 4445441 4445441 C T snp intronic C12orf5 rs2884524 0.113818 0 0 1 0 0 intronic intronic intronic C12orf5 C12orf5 ENSG00000078237 Na Na Na Na Na Na Het;C>T 42;4|3 Ref Hom;C>T 63;0|3 N N - 12 44963781 44963781 C T snp intronic NELL2 Nell2 ENSG00000184613 neural EGFL like 2 chr12:44902058-45315631 The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] Tobacco Use Disorder Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. GO:0070050;neuron cellular homeostasis;ISS GO:0005576;extracellular region;IEA|GO:0005623;cell;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL2 https://www.ncbi.nlm.nih.gov/omim/?term=602320 http://www.informatics.jax.org/searchtool/Search.do?query=NELL2&submit=Quick%0D%15244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL2 rs1377280 0.491813 0 0 1 0 0 intronic intronic intronic NELL2 NELL2 ENSG00000184613 Na Na Na Na Na Na Het;C>T 553;24|28 Het;C>T 260;65|20 Hom;C>T 2338;2|90 N N - 12 44963798 44963798 G C snp intronic NELL2 Nell2 ENSG00000184613 neural EGFL like 2 chr12:44902058-45315631 The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] Tobacco Use Disorder Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. GO:0070050;neuron cellular homeostasis;ISS GO:0005576;extracellular region;IEA|GO:0005623;cell;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL2 https://www.ncbi.nlm.nih.gov/omim/?term=602320 http://www.informatics.jax.org/searchtool/Search.do?query=NELL2&submit=Quick%0D%15244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL2 rs1376997 0.491813 0 0 1 0 0 intronic intronic intronic NELL2 NELL2 ENSG00000184613 Na Na Na Na Na Na Het;G>C 486;25|24 Het;G>C 206;58|16 Hom;G>C 2133;2|77 N N - 12 45000786 45000786 C A snp intronic NELL2 Nell2 ENSG00000184613 neural EGFL like 2 chr12:44902058-45315631 The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] Tobacco Use Disorder Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. GO:0070050;neuron cellular homeostasis;ISS GO:0005576;extracellular region;IEA|GO:0005623;cell;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL2 https://www.ncbi.nlm.nih.gov/omim/?term=602320 http://www.informatics.jax.org/searchtool/Search.do?query=NELL2&submit=Quick%0D%15244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL2 rs12818520 0.123203 0 0 1 0 0 intronic intronic intronic NELL2 NELL2 ENSG00000184613 Na Na Na Na Na Na Het;C>A 42;1|2 Ref Hom;C>A 88;0|3 N N - 12 45059237 45059237 T G snp UTR3 *4A>C NELL2 Nell2 ENSG00000184613 neural EGFL like 2 chr12:44902058-45315631 The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] Tobacco Use Disorder Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. GO:0070050;neuron cellular homeostasis;ISS GO:0005576;extracellular region;IEA|GO:0005623;cell;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL2 https://www.ncbi.nlm.nih.gov/omim/?term=602320 http://www.informatics.jax.org/searchtool/Search.do?query=NELL2&submit=Quick%0D%15244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL2 rs2290353 0.169529 0.1649 0.1764 1 0 0 intronic UTR3 intronic NELL2 NELL2(uc001roj.2:c.*4A>C) ENSG00000184613 Na Na Na Na Na Na Het;T>G 482;37|22 Ref Hom;T>G 3005;2|103 N N - 12 461598 461598 C A snp intronic KDM5A Kdm5a ENSG00000073614 lysine demethylase 5A chr12:389295-498620 This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background. HDMs demethylate histones GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008584;male gonad development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034720;histone H3-K4 demethylation;IDA|GO:0034721;histone H3-K4 demethylation, trimethyl-H3-K4-specific;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0055114;oxidation-reduction process;IEA|GO:1901726;negative regulation of histone deacetylase activity;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0032993;protein-DNA complex;IEA GO:0001046;core promoter sequence-specific DNA binding;IMP|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0032452;histone demethylase activity;TAS|GO:0034647;histone demethylase activity (H3-trimethyl-K4 specific);IDA|GO:0034648;histone demethylase activity (H3-dimethyl-K4 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM5A https://www.uniprot.org/uniprot/P29375 https://www.ncbi.nlm.nih.gov/omim/?term=180202 http://www.informatics.jax.org/searchtool/Search.do?query=KDM5A&submit=Quick%0D%1475ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM5A rs715230 0.646965 0 0 1 0 0 intronic intronic intronic KDM5A KDM5A ENSG00000073614 Na Na Na Na Na Na Het;C>A 256;5|10 Het;C>A 65;8|4 Hom;C>A 414;0|12 N N - 12 46215163 46215163 G A snp intronic ARID2 Arid2 ENSG00000189079 AT-rich interaction domain 2 chr12:46123448-46301823 ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008] hippocampal atrophy Mice homozygous for a knock-out allele exhibit embryonic lethality between E12.5 and E14.5, congenital heart defects, impaired coronary artery development, subcutaneous edema and hemorrhage. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0003007;heart morphogenesis;IEA|GO:0006337;nucleosome disassembly;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0042592;homeostatic process;IEA|GO:0048568;embryonic organ development;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0072358;cardiovascular system development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0090544;BAF-type complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARID2 https://hpo.jax.org/app/browse/search?q=ARID2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609539 http://www.informatics.jax.org/searchtool/Search.do?query=ARID2&submit=Quick%0D%16178ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARID2 rs2059404 0.448482 0.4450 0.4864 1 0 0 intronic intronic intronic ARID2 ARID2 ENSG00000189079 Na Na Na Na Na Na Het;G>A 511;11|23 Het;G>A 390;21|20 Hom;G>A 1247;0|47 N N - 12 464254 464254 T C snp intronic KDM5A Kdm5a ENSG00000073614 lysine demethylase 5A chr12:389295-498620 This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background. HDMs demethylate histones GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008584;male gonad development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034720;histone H3-K4 demethylation;IDA|GO:0034721;histone H3-K4 demethylation, trimethyl-H3-K4-specific;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0055114;oxidation-reduction process;IEA|GO:1901726;negative regulation of histone deacetylase activity;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0032993;protein-DNA complex;IEA GO:0001046;core promoter sequence-specific DNA binding;IMP|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0032452;histone demethylase activity;TAS|GO:0034647;histone demethylase activity (H3-trimethyl-K4 specific);IDA|GO:0034648;histone demethylase activity (H3-dimethyl-K4 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM5A https://www.uniprot.org/uniprot/P29375 https://www.ncbi.nlm.nih.gov/omim/?term=180202 http://www.informatics.jax.org/searchtool/Search.do?query=KDM5A&submit=Quick%0D%1475ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM5A rs3759371 0.647963 0 0 1 0 0 intronic intronic intronic KDM5A KDM5A ENSG00000073614 Na Na Na Na Na Na Het;T>C 225;16|10 Het;T>C 261;8|10 Hom;T>C 1125;0|37 N N - 12 46777400 46777400 A AGAGGAGGCGGG indel upstream;downstream ENSG00000257261 rs567378833 0.146965 0 0 1 0 0 upstream intergenic upstream;downstream LOC100288798 SLC38A2(dist=10755),SLC38A4(dist=381144) ENSG00000257261;ENSG00000257496 Na Na Na Na Na Na Het;+GAGGAGGCGGG 172;7|6 Ref Hom;+GAGGAGGCGGG 323;0|7 N N - 12 47336910 47336910 C T snp intergenic SLC38A4 Slc38a4 ENSG00000139209 solute carrier family 38 member 4 chr12:47158546-47226191 SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008] Prostatic Neoplasms; Arteries; Glucose; Myocardial Infarction; Diabetes Mellitus Amino acid transport across the plasma membrane GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A4 https://www.uniprot.org/uniprot/Q969I6 https://www.ncbi.nlm.nih.gov/omim/?term=608065 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A4&submit=Quick%0D%7853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A4 rs2465223 0.455871 0 0 1 0 0 intergenic intergenic intergenic SLC38A4(dist=117130),AMIGO2(dist=132580) SLC38A4(dist=117130),AMIGO2(dist=132580) ENSG00000139209(dist=110719),ENSG00000139211(dist=132580) Na Na Na Na Na Na Het;C>T 301;23|17 Ref Hom;C>T 1993;0|76 N N - 12 48151822 48151822 C G snp nonsynonymous SNV G46C A16P aliphatic,hydrophobic,neutral hydrophobic,neutral RAPGEF3 Rapgef3 ENSG00000079337 Rap guanine nucleotide exchange factor 3 chr12:48128455-48164823 bronchodilator response; depression; smoking behavior Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. Regulation of insulin secretion GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008283;cell proliferation;TAS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030822;positive regulation of cAMP catabolic process;NAS|GO:0032486;Rap protein signal transduction;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034242;negative regulation of syncytium formation by plasma membrane fusion;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046827;positive regulation of protein export from nucleus;IDA|GO:0050796;regulation of insulin secretion;TAS|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0060143;positive regulation of syncytium formation by plasma membrane fusion;IMP|GO:0061028;establishment of endothelial barrier;IMP|GO:0071320;cellular response to cAMP;IDA|GO:1901985;positive regulation of protein acetylation;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IMP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017034;Rap guanyl-nucleotide exchange factor activity;IMP|GO:0019904;protein domain specific binding;IPI|GO:0030552;cAMP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF3 https://www.uniprot.org/uniprot/O95398 https://www.ncbi.nlm.nih.gov/omim/?term=606057 http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF3&submit=Quick%0D%1698ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF3 rs11168230 0.296925 0.2920 0.4054 0.08 1 12 exonic exonic exonic RAPGEF3 RAPGEF3 ENSG00000079337 nonsynonymous SNV nonsynonymous SNV unknown RAPGEF3:NM_001098531:exon2:c.G46C:p.A16P, RAPGEF3:uc001rqb.3:exon2:c.G46C:p.A16P,RAPGEF3:uc009zks.2:exon2:c.G82C:p.A28P,RAPGEF3:uc001rpz.4:exon2:c.G46C:p.A16P, UNKNOWN Het;C>G 650;46|29 Ref Hom;C>G 1883;0|69 N N - 12 48182087 48182087 C T snp intronic HDAC7 Hdac7 ENSG00000061273 histone deacetylase 7 chr12:48176505-48226915 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] bronchodilator response; Celiac Disease|; Type 2 Diabetes| edema | rosiglitazone Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects. Regulation of PTEN gene transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001570;vasculogenesis;IEA|GO:0006325;chromatin organization;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007043;cell-cell junction assembly;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IEA|GO:0016925;protein sumoylation;IEA|GO:0032703;negative regulation of interleukin-2 production;IDA|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0090050;positive regulation of cell migration involved in sprouting angiogenesis;IMP|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IMP GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IEA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019789;SUMO transferase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033613;activating transcription factor binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDAC7 https://www.uniprot.org/uniprot/Q8WUI4 https://www.ncbi.nlm.nih.gov/omim/?term=606542 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC7&submit=Quick%0D%1072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC7 rs7959510 0.917332 0 0 1 0 0 intronic intronic intronic HDAC7 HDAC7 ENSG00000061273 Na Na Na Na Na Na Het;C>T 595;9|22 Het;C>T 403;7|15 Hom;C>T 1072;0|36 N N - 12 48272895 48272895 A G snp nonsynonymous SNV T2C M1T hydrophobic,neutral polar,hydrophilic,neutral VDR Vdr ENSG00000111424 vitamin D receptor chr12:48235320-48336831 This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011] periodontitis, early-onset; Lupus; idiopathic osteoarthritis; Osteitis Deformans; Osteomalacia; calcific aortic valve stenosis; sex-dependent growth; HIV Infections|Tuberculosis, Pulmonary; osteoarthritis; hip dysplasia; breast cancer; Leprosy, Lepromatous; Multiple Sclerosis; Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases; Aggressive Periodontitis|Alveolar Bone Loss|Periodontitis|Periodontitis, Juvenile; Femoral Neck Fractures|Osteoporosis|Spinal Injuries; multiple sclerosis; rickets; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections; Psoriasis; Endometriosis; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy; benign prostatic hyperplasia and benign prostatic enlargement; lead and mercury metabolism; urinary infection; bone cancer; diabetes, type 1; Periodontitis; Alveolar Bone Loss|Chronic Periodontitis; epithelial ovarian cancer ; Erythema Nodosum|Sarcoidosis; esophageal adenocarcinoma; spinal ossification; birth height growth to adolescence and adult stature; leisure physical activity; spondylosis, lumbar; aseptic loosening post hip replacement osteolysis; Lymphoma, Non-Hodgkin; Chronic renal failure|Kidney Failure, Chronic; Difference in height; Body Weight|; Coronary Artery Disease|; ovarian cancer; Grave`s disease; Amyotrophic Lateral Sclerosis; diabetic nephropathy; Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Vitamin D Deficiency; Inflammation|Venous Thromboembolism; vertebral fracture; juvenile idiopathic arthritis; Kidney Diseases; myocardial infarct; colon cancer rectal cancer; Rickets; lead nephrotoxicity; HIV Infections|[X]Human immunodeficiency virus disease; Gaucher Disease|Osteoporosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Osteoporosis; lumbar disc disease; malignant melanoma; arthritis; Scoliosis; Coronary Artery Disease|Kidney Failure|Uremia; Hypercalcemia|Sarcoidosis, Pulmonary; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Alveolar Bone Loss|Tooth Loss; Urolithiasis; Intervertebral Disk Displacement; Colonic Neoplasms|Insulin Resistance|Rectal Neoplasms; Alveolar Bone Loss|Periodontal Attachment Loss|Tooth Loss; obesity; diabetes, type 2; Body Weight. Bone Mineral Density. and Osteoporotic; beta-Thalassemia; hepatitis B; Hypophosphatemic Rickets, X-Linked Dominant; Coronary Restenosis; Calcinosis|Coronary Artery Disease; Bone Diseases|Osteoporosis; Urinary Calculi; Asthma|; Tuberculosis|Tuberculosis, Pulmonary; Fabry Disease; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Acquired Immunodeficiency Syndrome|Disease Progression; prevalence and severity of CAD; calcium nephrolithiasis; Fractures, Stress; Carcinoma, Papillary, Follicular|Thyroid Neoplasms; ovarian cancer ; Colitis, Ulcerative; Addison's disease; Primary Biliary Cirrhosis; Body Weight; Neoplasms; Fractures, Spontaneous|Osteoporosis, Postmenopausal; breast cancer ; calcium homeostasis and peripheral bone density ; Graves Disease|Graves' Disease; combined bone mass; Kidney Calculi; occupational exposure in lumbar disc degeneration; inflammatory bowel disease ; Chronic renal failure|Hyperparathyroidism|Kidney Failure, Chronic; Leukemia; osteoporosis, postmenopausal; Adenoma|Colonic Neoplasms|Recurrence; Ossification of Posterior Longitudinal Ligament; tuberculosis ; Type 2 diabetes; Bone Resorption; Chronic renal failure|Hyperparathyroidism, Secondary|Kidney Failure, Chronic; Leprosy; bone density; fractures; Birth Weight|Spinal Osteophytosis; hematopoietic outcomes, lead exposure related; lead; psoriasis; cirrhosis, biliary primary; liver disease; extracellular magnesium concentration; leukemia | bone mineral density; Albuminuria|Inflammation|Kidney Diseases; Autoimmune Diseases|Vitiligo; bone density; fractures, vertebral; periodontitis; Tuberculosis, Pulmonary; Hip Fractures|Osteoporosis, Postmenopausal; COPD | Chronic obstructive Pulmonary Disease; Graves Disease|Thyroiditis, Autoimmune; melanoma|Skin Neoplasms; Birth Weight|Fetal Growth Retardation|Intrauterine growth retardation|Vitamin D Deficiency; Dengue Hemorrhagic Fever; bone mineral density; bronchodilator response; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; respiratory syncytial virus bronchiolitis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Diabetes Mellitus, Type 1; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sarcopenia; Birth Weight|Fetal Diseases|Nutrition Disorders|Osteoporosis|Prenatal Exposure Delayed Effects; Anemia; creatinine kidney function lead toxicity; urinary stone; Anemia, Iron-Deficiency|Kidney Failure, Chronic; Tuberculosis; diabetes, type 1 ; smoking; Spinal Cord Diseases|Spondylosis; Fractures, Bone; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Arthritis, Rheumatoid|Osteoporosis|Rheumatoid Arthritis; Vitiligo; colorectal adenomas; colorectal cancer; pregnancy loss, recurrent; BsmI vitamin D receptor gene polymorphism; breast cancer risk; prostate cancer; normal variation; gastrointestinal toxicity leukemia; Brain Ischemia|Hypertension|Osteoporosis|Stroke; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary|Osteoporosis; Hip Dislocation, Congenital; Spinal Diseases; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Osteoporosis|Rheumatoid Arthritis|Systemic lupus erythematosus; Dwarfism, Pituitary|Pituitary dwarfism|Turner Syndrome|XO syndrome; Hepatitis B; radiographic osteoarthritis at the knee; arthritis, juvenile; betaCL osteocalcin; lead toxicity; chronic obstructive pulmonary disease; HTLV-I Infections|Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; Hypercalcemia|Hypercalciuria; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver Cirrhosis, Alcoholic|Liver neoplasms; Calcium Metabolism Disorders; chronic renal failure.; Progression to AIDS; Bone Diseases, Developmental|Osteoarthritis, Hip; breast cancer fibroadenoma; blood pressure; Osteoporosis, Postmenopausal; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Squamous Cell|Cell Transformation, Neoplastic|Skin Neoplasms|Squamous cell carcinoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Kidney Failure, Chronic|Periodontitis; graft-versus-host disease; bone density calcium phosphorus; Keratosis|Melanoma|Skin Neoplasms; disc degeneration, intervertebral; Brain Ischemia|Inflammation|Stroke; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; Kidney Calculi|Recurrence; liver transplant; Alveolar Bone Loss|Periodontitis; Intervertebral Disk Degeneration|Intervertebral Disk Displacement; calcium oxalate stone disease; Birth Weight|Vitamin D Deficiency; prostate cancer | breast cancer ; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Alopecia Areata; breast cancer development; metastatic breast cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|Precancerous Conditions; Alzheimer's disease ; Tuberculosis, Spinal; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; Hepatitis C|Remission, Spontaneous; Rectal Neoplasms; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Autoimmune Diseases|Liver Cirrhosis, Biliary; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; pharmacogenetic studies; Degenerative arthropathy |Osteoarthritis; Hyperparathyroidism, Secondary; cognitive ability; Atherosclerosis|Ossification of Posterior Longitudinal Ligament; Acquired Immunodeficiency Syndrome|Substance Abuse, Intravenous; Fractures, Bone|Osteoporosis; blood lead concentration in children.; osteoarthritis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer ; Brain Ischemia|Stroke; Hashimoto Disease; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; Bronchiolitis|Pneumonia; BMI; Bone Resorption|Osteoporosis, Postmenopausal; body mass; bone density; fat-free mass and sarcopenia; calcium; Hip Fractures|Osteoporosis; body mass; lipoproteins; blood pressure; CrossLaps, urinary; osteocalcin; rheumatoid arthritis; zinc; lead toxicity; height; weight; Melanoma|Neoplasm Recurrence, Local; chronic periodontitis ; Diabetes Complications|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Neuropathies|Diabetic Retinopathy; leukemia; null; Hepatitis B, Chronic; Adenoma|Colorectal Neoplasms; Chronic renal failure|Hypercalcemia|Kidney Failure, Chronic; Crohn's disease; osteoporosis, postmenopausal; estradiol; hypertension; ALS/amyotrophic lateral sclerosis; Fractures, Bone|Osteoporosis|Spinal Fractures; Parkinson's disease; Arthritis, Rheumatoid|Disease Susceptibility|Rheumatoid Arthritis; leprosy type; melanoma; Colonic Neoplasms|Microsatellite Instability; obesity|asthma; calcium oxalate stone formation; Aortic Valve Stenosis|; Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis; blood pressure, arterial; Q fever; Colonic Neoplasms; osteoporosis, postmenopausal; osteopenia; Arthritis, Rheumatoid|Rheumatoid Arthritis; Chronic ulcerative colitis|Colitis, Ulcerative; Kidney Diseases|Lithiasis; Type 2 Diabetes| edema | rosiglitazone; bone density; chronic periodontitis; urolithiasis; Neoplasms, Prostatic|Prostatic Neoplasms; Graft vs Host Disease; Menopause, Premature; Alzheimer's disease; osteoporosis; kidney stone disease; Celiac Disease|; bone mass; nephrolithiasis; height in children; Migraine Disorders; Hyperparathyroidism; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; bone metastases; Colonic Neoplasms|Obesity; Insulin Resistance|Polycystic Ovary Syndrome; Femoral Neck Fractures|Fractures, Stress; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; asthma; systemic lupus erythematosus; Carcinoma, Renal Cell|Kidney Neoplasms; End Stage Renal Disease; lung cancer; Colorectal Neoplasms; Autoimmune Hepatitis; pulmonary tuberculosis; rubella vaccine; Cardiovascular Diseases|Neoplasms; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Retinopathy; quantitative calcaneal ultrasound; Alzheimer's Disease; prostatic hyperplasia; Recurrence|Venous Thromboembolism; metabolic syndrome; bladder cancer; physical activity; Lead Poisoning; Kidney Diseases|Urolithiasis; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; tuberculosis; renal cell carcinoma; Graves Disease; Chlamydia Infections|Inflammation|Trachoma; Bone Diseases, Metabolic|Osteoporosis|Spondylitis, Ankylosing; serum total and ionized calcium concentration; prostate volume/histology endocrine patterns; dengue hemorrhagic fever; Calcium Nephrolithiasis; BILIARY CIRRHOSIS|Hepatitis, Autoimmune|Liver Cirrhosis, Biliary; Arthritis, Psoriatic; Carcinoma, Renal Cell|Renal Cell Carcinoma; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Lymphatic Metastasis|Mammary Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis|Neoplasm Recurrence, Local; early osteoarthritis; Osteoarthritis; bone remodeling; atherosclerosis, coronary; hepatitis B Virus infection; Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Pulmonary Disease, Chronic Obstructive; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Lymphadenitis|Mycobacterium Infections|Periodontitis; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; osteonecrosis; Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local; body mass; birth weight; height; Coronary Artery Disease|Inflammation; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; Vitamin D deficiency rickets; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Hip Fractures; hyperthyroidism; Osteoporosis; Melanoma|Skin Neoplasms; Bone Mineral Density Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development. Nuclear Receptor transcription pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000902;cell morphogenesis;IMP|GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007595;lactation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009887;animal organ morphogenesis;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010839;negative regulation of keratinocyte proliferation;IMP|GO:0010980;positive regulation of vitamin D 24-hydroxylase activity;IDA|GO:0038183;bile acid signaling pathway;IDA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046697;decidualization;IEP|GO:0050892;intestinal absorption;IEA|GO:0060058;positive regulation of apoptotic process involved in mammary gland involution;IEA|GO:0060558;regulation of calcidiol 1-monooxygenase activity;ISS|GO:0060745;mammary gland branching involved in pregnancy;IEA|GO:0070561;vitamin D receptor signaling pathway;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008434;calcitriol receptor activity;IDA|GO:0038186;lithocholic acid receptor activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046965;retinoid X receptor binding;IPI|GO:0070644;vitamin D response element binding;IDA|GO:1902098;calcitriol binding;IDA|GO:1902121;lithocholic acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/VDR https://www.uniprot.org/uniprot/P11473 https://hpo.jax.org/app/browse/search?q=VDR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601769 http://www.informatics.jax.org/searchtool/Search.do?query=VDR&submit=Quick%0D%4077ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VDR rs2228570 0.671526 0.6732 0.6376 0.58 7 12 exonic exonic exonic VDR VDR ENSG00000111424 nonsynonymous SNV nonsynonymous SNV unknown VDR:NM_000376:exon3:c.T2C:p.M1T,VDR:NM_001017535:exon4:c.T2C:p.M1T,VDR:NM_001017536:exon3:c.T152C:p.M51T, VDR:uc001rqn.3:exon3:c.T2C:p.M1T,VDR:uc001rqm.3:exon4:c.T2C:p.M1T,VDR:uc001rql.3:exon3:c.T152C:p.M51T, UNKNOWN Het;A>G 1972;74|85 Het;A>G 1317;99|67 Hom;A>G 3174;0|113 N N - 12 48377970 48377970 A G snp intronic COL2A1 Col2a1 ENSG00000139219 collagen type II alpha 1 chain chr12:48366748-48398269 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy) Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. Collagen chain trimerization GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL2A1 https://www.uniprot.org/uniprot/P02458 https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120140 http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1 rs1635550 0.683107 0.7660 0.7522 1 0 0 intronic intronic intronic COL2A1 COL2A1 ENSG00000139219 Na Na Na Na Na Na Het;A>G 956;52|46 Het;A>G 677;33|31 Hom;A>G 1881;0|66 N N - 12 48386553 48386553 A G snp intronic COL2A1 Col2a1 ENSG00000139219 collagen type II alpha 1 chain chr12:48366748-48398269 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy) Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. Collagen chain trimerization GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL2A1 https://www.uniprot.org/uniprot/P02458 https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120140 http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1 rs1635534 0.67472 0 0 1 0 0 intronic intronic intronic COL2A1 COL2A1 ENSG00000139219 Na Na Na Na Na Na Het;A>G 153;5|6 Het;A>G 242;3|9 Hom;A>G 218;0|6 N N - 12 48386577 48386577 G T snp intronic COL2A1 Col2a1 ENSG00000139219 collagen type II alpha 1 chain chr12:48366748-48398269 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy) Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. Collagen chain trimerization GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL2A1 https://www.uniprot.org/uniprot/P02458 https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120140 http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1 rs1793915 0.674521 0 0 1 0 0 intronic intronic intronic COL2A1 COL2A1 ENSG00000139219 Na Na Na Na Na Na Het;G>T 304;12|14 Het;G>T 307;9|14 Hom;G>T 390;0|15 N N - 12 48389643 48389643 A C snp intronic COL2A1 Col2a1 ENSG00000139219 collagen type II alpha 1 chain chr12:48366748-48398269 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy) Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. Collagen chain trimerization GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL2A1 https://www.uniprot.org/uniprot/P02458 https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120140 http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1 rs1034762 0.682708 0.8209 0.7489 1 0 0 intronic intronic intronic COL2A1 COL2A1 ENSG00000139219 Na Na Na Na Na Na Het;A>C 842;51|38 Het;A>C 785;29|33 Hom;A>C 2433;0|88 N N - 12 48398002 48398002 G C snp intronic COL2A1 Col2a1 ENSG00000139219 collagen type II alpha 1 chain chr12:48366748-48398269 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy) Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. Collagen chain trimerization GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL2A1 https://www.uniprot.org/uniprot/P02458 https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120140 http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1 rs3803184 0.685903 0.7842 0.7712 1 0 0 intronic intronic intronic COL2A1 COL2A1 ENSG00000139219 Na Na Na Na Na Na Het;G>C 1772;104|82 Het;G>C 1959;68|88 Hom;G>C 4321;0|157 N N - 12 48398080 48398080 T A snp nonsynonymous SNV A25T T9S polar,hydrophilic,neutral polar,hydrophilic,neutral COL2A1 Col2a1 ENSG00000139219 collagen type II alpha 1 chain chr12:48366748-48398269 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] osteoarthritis of the knee; Intervertebral Disk Displacement; Type 2 Diabetes| edema | rosiglitazone; osteoarthritis; hip dysplasia; bronchodilator response; Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis; Myopia; osteoarthritis of the hip; Toxoplasmosis, Congenital; Cleft Lip|Cleft Palate; Osteoarthritis; osteoarthritis; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; rheumatoid arthritis; null; Strudwick variant of spondyloepimetaphyseal dysplasia; Parkinson Disease; retinal detachment; disc degeneration; Cumulative Trauma Disorders|Occupational Diseases|Osteoarthritis; Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; Stickler syndrome (hereditary arthro-ophthalmopathy) Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. Collagen chain trimerization GO:0001501;skeletal system development;IMP|GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007417;central nervous system development;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0010468;regulation of gene expression;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0030903;notochord development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0048839;inner ear development;IEA|GO:0050776;regulation of immune response;TAS|GO:0051216;cartilage development;TAS|GO:0060021;palate development;IEA|GO:0060174;limb bud formation;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IMP|GO:0060348;bone development;IEA|GO:0060351;cartilage development involved in endochondral bone morphogenesis;IEA|GO:0071599;otic vesicle development;IEA|GO:0071773;cellular response to BMP stimulus;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005585;collagen type II trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC|GO:0042289;MHC class II protein binding;IPI|GO:0042802;identical protein binding;NAS|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL2A1 https://www.uniprot.org/uniprot/P02458 https://hpo.jax.org/app/browse/search?q=COL2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120140 http://www.informatics.jax.org/searchtool/Search.do?query=COL2A1&submit=Quick%0D%7856ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL2A1 rs3803183 0.685304 0.7891 0.7726 0.23 3 13 exonic exonic exonic COL2A1 COL2A1 ENSG00000139219 nonsynonymous SNV nonsynonymous SNV unknown COL2A1:NM_033150:exon1:c.A25T:p.T9S,COL2A1:NM_001844:exon1:c.A25T:p.T9S, COL2A1:uc001rqu.3:exon1:c.A25T:p.T9S,COL2A1:uc001rqv.3:exon1:c.A25T:p.T9S, UNKNOWN Het;T>A 2150;117|108 Het;T>A 2741;77|123 Hom;T>A 5221;0|197 N N - 12 48537624 48537624 A G snp intronic PFKM Pfkm ENSG00000152556 phosphofructokinase, muscle chr12:48498922-48540187 Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] Tarui disease; longevity; BMI- Edema rosiglitazone or pioglitazone; Tobacco Use Disorder; Hypercholesterolemia|LDLC levels Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology. Glycolysis GO:0005980;glycogen catabolic process;IEA|GO:0006002;fructose 6-phosphate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046716;muscle cell cellular homeostasis;IMP|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051259;protein oligomerization;IDA|GO:0061615;glycolytic process through fructose-6-phosphate;IEA|GO:0061621;canonical glycolysis;TAS|GO:0093001;glycolysis from storage polysaccharide through glucose-1-phosphate;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005945;6-phosphofructokinase complex;IDA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA|GO:0097228;sperm principal piece;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003872;6-phosphofructokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008022;protein C-terminus binding;IPI|GO:0008443;phosphofructokinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070061;fructose binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PFKM https://www.uniprot.org/uniprot/P08237 https://hpo.jax.org/app/browse/search?q=PFKM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610681 http://www.informatics.jax.org/searchtool/Search.do?query=PFKM&submit=Quick%0D%9564ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PFKM rs4075913 0.645367 0.8105 0.7352 1 0 0 intronic intronic intronic PFKM PFKM ENSG00000152556 Na Na Na Na Na Na Het;A>G 2719;109|112 Ref Hom;A>G 6157;2|230 N N - 12 48578325 48578325 A C snp nonsynonymous SNV A420C E140D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) C12orf68 rs10783231 0.594649 0.7452 0.7201 0.08 1 13 exonic exonic exonic CCDC184 C12orf68 ENSG00000177875 nonsynonymous SNV nonsynonymous SNV unknown CCDC184:NM_001013635:exon1:c.A420C:p.E140D, C12orf68:uc001rrj.2:exon1:c.A420C:p.E140D, UNKNOWN Het;A>C 2011;94|87 Ref Hom;A>C 4282;0|152 N N - 12 48738555 48738556 GA G indel intronic ZNF641 Zfp641 ENSG00000167528 zinc finger protein 641 chr12:48733791-48745197 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF641 https://www.ncbi.nlm.nih.gov/omim/?term=613906 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF641&submit=Quick%0D%12031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF641 rs34591795 0.652157 0 0 1 0 0 intronic intronic intronic ZNF641 ZNF641 ENSG00000167528 Na Na Na Na Na Na Het;-A 353;20|19 Het;-A 179;22|12 Hom;-A 816;0|33 N N - 12 48741219 48741219 A T snp intronic ZNF641 Zfp641 ENSG00000167528 zinc finger protein 641 chr12:48733791-48745197 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF641 https://www.ncbi.nlm.nih.gov/omim/?term=613906 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF641&submit=Quick%0D%12031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF641 rs901962 0.652157 0 0 1 0 0 intronic intronic intronic ZNF641 ZNF641 ENSG00000167528 Na Na Na Na Na Na Het;A>T 78;1|3 Ref Hom;A>T 214;0|7 N N - 12 49298340 49298340 C T snp intronic CCDC65 Ccdc65 ENSG00000139537 coiled-coil domain containing 65 chr12:49297893-49325623 This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013] Primary ciliary dyskinesia http://www.genecards.org/index.php?path=/Search/keyword/CCDC65 https://www.uniprot.org/uniprot/Q8IXS2 https://hpo.jax.org/app/browse/search?q=CCDC65&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611088 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC65&submit=Quick%0D%7897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC65 rs3825184 0.545128 0 0 1 0 0 intronic intronic intronic CCDC65 CCDC65 ENSG00000139537,ENSG00000272822 Na Na Na Na Na Na Het;C>T 141;12|7 Het;C>T 130;12|7 Hom;C>T 375;0|15 N N - 12 49334598 49334598 C T snp intronic ARF3 Arf3 ENSG00000134287 ADP ribosylation factor 3 chr12:49329506-49351334 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone COPI-dependent Golgi-to-ER retrograde traffic GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IGI|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARF3 https://www.uniprot.org/uniprot/P61204 https://www.ncbi.nlm.nih.gov/omim/?term=103190 http://www.informatics.jax.org/searchtool/Search.do?query=ARF3&submit=Quick%0D%6951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARF3 rs1726435 0.542532 0 0 1 0 0 intronic intronic intronic ARF3 ARF3 ENSG00000134287,ENSG00000272822 Na Na Na Na Na Na Het;C>T 110;5|5 Ref Hom;C>T 323;0|7 N N - 12 495217 495217 G T snp intronic KDM5A Kdm5a ENSG00000073614 lysine demethylase 5A chr12:389295-498620 This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background. HDMs demethylate histones GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008584;male gonad development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032922;circadian regulation of gene expression;IEA|GO:0034720;histone H3-K4 demethylation;IDA|GO:0034721;histone H3-K4 demethylation, trimethyl-H3-K4-specific;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0055114;oxidation-reduction process;IEA|GO:1901726;negative regulation of histone deacetylase activity;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0032993;protein-DNA complex;IEA GO:0001046;core promoter sequence-specific DNA binding;IMP|GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0032452;histone demethylase activity;TAS|GO:0034647;histone demethylase activity (H3-trimethyl-K4 specific);IDA|GO:0034648;histone demethylase activity (H3-dimethyl-K4 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM5A https://www.uniprot.org/uniprot/P29375 https://www.ncbi.nlm.nih.gov/omim/?term=180202 http://www.informatics.jax.org/searchtool/Search.do?query=KDM5A&submit=Quick%0D%1475ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM5A rs10774152 0.567492 0 0 1 0 0 intronic intronic intronic KDM5A KDM5A ENSG00000073614 Na Na Na Na Na Na Het;G>T 306;13|14 Het;G>T 135;10|8 Hom;G>T 487;0|17 N N - 12 50344976 50344976 G A snp intronic AQP2 Aqp2 ENSG00000167580 aquaporin 2 chr12:50344524-50352664 This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; MENIERE DISEASE; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tobacco Use Disorder; Type 2 diabetes Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood. Passive transport by Aquaporins GO:0003091;renal water homeostasis;TAS|GO:0003097;renal water transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;IDA|GO:0034220;ion transmembrane transport;IBA|GO:0042631;cellular response to water deprivation;IEA|GO:0071280;cellular response to copper ion;IDA|GO:0071288;cellular response to mercury ion;IDA|GO:0072205;metanephric collecting duct development;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030658;transport vesicle membrane;TAS|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005372;water transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015168;glycerol transmembrane transporter activity;IDA|GO:0015250;water channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AQP2 https://hpo.jax.org/app/browse/search?q=AQP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107777 http://www.informatics.jax.org/searchtool/Search.do?query=AQP2&submit=Quick%0D%12047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP2 rs3741559 0.210863 0.1524 0.2218 1 0 0 intronic intronic intronic AQP2 AQP2 ENSG00000167580 Na Na Na Na Na Na Het;G>A 868;43|40 Het;G>A 1181;51|55 Hom;G>A 3031;0|116 N N - 12 50345711 50345711 C G snp ncRNA_exonic LOC101927318 rs34119994 0.216853 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101927318 AQP2 ENSG00000257588 Na Na Na Na Na Na Het;C>G 938;41|45 Het;C>G 722;28|32 Hom;C>G 1502;0|53 N N - 12 50351075 50351075 T C snp UTR3 *1684T>C AQP2 Aqp2 ENSG00000167580 aquaporin 2 chr12:50344524-50352664 This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Venous Thrombosis; MENIERE DISEASE; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tobacco Use Disorder; Type 2 diabetes Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood. Passive transport by Aquaporins GO:0003091;renal water homeostasis;TAS|GO:0003097;renal water transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007588;excretion;TAS|GO:0015793;glycerol transport;IDA|GO:0034220;ion transmembrane transport;IBA|GO:0042631;cellular response to water deprivation;IEA|GO:0071280;cellular response to copper ion;IDA|GO:0071288;cellular response to mercury ion;IDA|GO:0072205;metanephric collecting duct development;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030658;transport vesicle membrane;TAS|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005372;water transmembrane transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015168;glycerol transmembrane transporter activity;IDA|GO:0015250;water channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AQP2 https://hpo.jax.org/app/browse/search?q=AQP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107777 http://www.informatics.jax.org/searchtool/Search.do?query=AQP2&submit=Quick%0D%12047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP2 rs10875989 0.48123 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic LOC101927318 AQP2(uc001rvn.3:c.*1684T>C) ENSG00000257588 Na Na Na Na Na Na Het;T>C 1120;37|44 Het;T>C 980;49|44 Hom;T>C 2301;0|77 N N - 12 50616346 50616346 A G snp UTR5 -393T>C LIMA1 Lima1 ENSG00000050405 LIM domain and actin binding 1 chr12:50569571-50677329 This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011] Echocardiography Mice homozygous for a knock-out allele exhibit decreased intestinal cholesterol absorption. GO:0030835;negative regulation of actin filament depolymerization;IEA|GO:0031529;ruffle organization;IDA|GO:0051017;actin filament bundle assembly;IEA GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005903;brush border;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IDA GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMA1 https://www.uniprot.org/uniprot/Q9UHB6 https://www.ncbi.nlm.nih.gov/omim/?term=608364 http://www.informatics.jax.org/searchtool/Search.do?query=LIMA1&submit=Quick%0D%926ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMA1 rs3812825 0.346046 0 0.3946 1 0 0 UTR5 UTR5 ncRNA_intronic LIMA1(NM_001113547:c.-393T>C) LIMA1(uc001rwi.4:c.-393T>C) ENSG00000257256 Na Na Na Na Na Na Het;A>G 96;8|4 Ref Hom;A>G 127;0|4 N N - 12 51582188 51582188 T C snp UTR3 *1842A>G POU6F1 Pou6f1 ENSG00000184271 POU class 6 homeobox 1 chr12:51580719-51611477 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007420;brain development;TAS|GO:0007507;heart development;TAS|GO:0007517;muscle organ development;TAS GO:0005634;nucleus;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POU6F1 http://www.informatics.jax.org/searchtool/Search.do?query=POU6F1&submit=Quick%0D%15170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POU6F1 rs10747605 0.615216 0 0 1 0 0 UTR3 UTR3 UTR3 POU6F1(NM_002702:c.*1842A>G) POU6F1(uc001rxy.3:c.*1842A>G,uc001rxz.3:c.*1842A>G,uc001rya.3:c.*1842A>G) ENSG00000184271(ENST00000389243:c.*1842A>G) Na Na Na Na Na Na Het;T>C 1855;90|88 Ref Hom;T>C 4090;0|152 N N - 12 52163248 52163248 A G snp intronic SCN8A Scn8a ENSG00000196876 sodium voltage-gated channel alpha subunit 8 chr12:51984050-52206648 This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Bipolar Disorder; Hippocampus; Sleep; Essential Tremor; Tobacco Use Disorder; ADHD | attention-deficit hyperactivity disorder Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007399;nervous system development;TAS|GO:0007422;peripheral nervous system development;ISS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042552;myelination;ISS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IC|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IDA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN8A https://hpo.jax.org/app/browse/search?q=SCN8A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600702 http://www.informatics.jax.org/searchtool/Search.do?query=SCN8A&submit=Quick%0D%16489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN8A rs303810 0.678514 0 0 1 0 0 intronic intronic intronic SCN8A SCN8A ENSG00000196876 Na Na Na Na Na Na Het;A>G 283;2|8 Ref Hom;A>G 137;0|4 N N - 12 52242123 52242123 A G snp ncRNA_exonic AC068987.1 rs303781 0.826877 0 0 1 0 0 intergenic intergenic ncRNA_exonic FIGNL2(dist=16422),ANKRD33(dist=39670) FIGNL2(dist=16422),ANKRD33(dist=39670) ENSG00000259887 Na Na Na Na Na Na Het;A>G 419;17|19 Het;A>G 349;20|15 Hom;A>G 1241;0|47 N N - 12 52284668 52284668 C A snp nonsynonymous SNV C626A T209N polar,hydrophilic,neutral polar,hydrophilic,neutral ANKRD33 Ankrd33 ENSG00000167612 ankyrin repeat domain 33 chr12:52281744-52285448 Cholesterol GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IEA GO:0005634;nucleus;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33&submit=Quick%0D%12054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33 rs12368048 0.165136 0.1835 0.2012 0.77 10 13 exonic exonic exonic ANKRD33 ANKRD33 ENSG00000167612 nonsynonymous SNV nonsynonymous SNV unknown ANKRD33:NM_001304460:exon4:c.C356A:p.T119N,ANKRD33:NM_001130015:exon5:c.C563A:p.T188N,ANKRD33:NM_182608:exon5:c.C938A:p.T313N,ANKRD33:NM_001304459:exon6:c.C626A:p.T209N, ANKRD33:uc001rze.3:exon6:c.C626A:p.T209N,ANKRD33:uc001rzd.3:exon5:c.C938A:p.T313N,ANKRD33:uc001rzi.4:exon4:c.C563A:p.T188N,ANKRD33:uc001rzg.4:exon4:c.C344A:p.T115N,ANKRD33:uc001rzf.4:exon5:c.C563A:p.T188N, UNKNOWN Het;C>A 4676;214|207 Ref Hom;C>A 11510;3|434 N N - 12 52285209 52285209 C CTA indel UTR3 *120C>CTA ANKRD33 Ankrd33 ENSG00000167612 ankyrin repeat domain 33 chr12:52281744-52285448 Cholesterol GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IEA GO:0005634;nucleus;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD33 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD33&submit=Quick%0D%12054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD33 rs35582441 0.180511 0 0 1 0 0 UTR3 UTR3 UTR3 ANKRD33(NM_001130015:c.*85C>CTA,NM_001304459:c.*120C>CTA,NM_001304460:c.*85C>CTA,NM_182608:c.*120C>CTA) ANKRD33(uc001rzh.4:c.*2424C>CTA,uc001rzf.4:c.*85C>CTA,uc001rzd.3:c.*120C>CTA,uc001rze.3:c.*120C>CTA,uc001rzg.4:c.*85C>CTA,uc001rzi.4:c.*85C>CTA) ENSG00000167612(ENST00000301190:c.*120C>CTA,ENST00000340970:c.*85C>CTA) Na Na Na Na Na Na Het;+TA 445;20|15 Ref Hom;+TA 791;0|23 N N - 12 52481317 52481317 C T snp ncRNA_intronic bpl41-16 rs2272484 0.305711 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic OR7E47P bpl41-16 ENSG00000257542,ENSG00000272724 Na Na Na Na Na Na Het;C>T 362;23|17 Het;C>T 365;16|15 Hom;C>T 757;0|27 N N - 12 52485891 52485891 G A snp ncRNA_exonic OR7E47P rs2272485 0.31849 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic OR7E47P bpl41-16 ENSG00000272724 Na Na Na Na Na Na Het;G>A 1094;71|49 Het;G>A 1362;46|58 Hom;G>A 2752;0|102 N N - 12 52501561 52501561 C CT indel ncRNA_exonic OR7E47P rs113847495 0.100839 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic OR7E47P bpl41-16 ENSG00000257542 Na Na Na Na Na Na Het;+T 1736;89|88 Ref Hom;+T 2477;11|109 N N - 12 52501885 52501885 T C snp ncRNA_exonic OR7E47P rs28687915 0.207268 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic OR7E47P bpl41-16 ENSG00000257542 Na Na Na Na Na Na Het;T>C 2813;133|120 Ref Hom;T>C 6365;2|224 N N - 12 52537123 52537123 C T snp intergenic OR7E47P rs12315460 0.250998 0 0 1 0 0 intergenic intergenic intergenic OR7E47P(dist=35020),KRT80(dist=25657) bpl41-16(dist=35089),KRT80(dist=25657) ENSG00000265804(dist=29327),ENSG00000167767(dist=25657) Na Na Na Na Na Na Het;C>T 41;2|2 Ref Hom;C>T 71;0|4 N N - 12 52565322 52565322 G T snp synonymous SNV C1254A P418P hydrophobic,neutral hydrophobic,neutral KRT80 Krt80 ENSG00000167767 keratin 80 chr12:52562780-52585784 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010] Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT80 https://www.ncbi.nlm.nih.gov/omim/?term=611161 http://www.informatics.jax.org/searchtool/Search.do?query=KRT80&submit=Quick%0D%12107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT80 rs3741737 0.759784 0.7886 0.8007 1 0 0 exonic exonic exonic KRT80 KRT80 ENSG00000167767 synonymous SNV synonymous SNV unknown KRT80:NM_001081492:exon9:c.C1254A:p.P418P, KRT80:uc001rzy.3:exon9:c.C1254A:p.P418P, UNKNOWN Het;G>T 1553;51|70 Ref Hom;G>T 3523;0|140 N N - 12 52623086 52623086 C G snp ncRNA_exonic METTL7AP1 rs11611883 0.0842652 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00592(dist=5489),KRT7(dist=3868) LINC00592(dist=5489),KRT7(dist=3868) ENSG00000257649 Na Na Na Na Na Na Het;C>G 966;51|39 Ref Hom;C>G 2139;0|75 N N - 12 52738111 52738111 T C snp intergenic KRT83 Krt83 ENSG00000170523 keratin 83 chr12:52708085-52715182 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008] Stroke Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT83 https://hpo.jax.org/app/browse/search?q=KRT83&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602765 http://www.informatics.jax.org/searchtool/Search.do?query=KRT83&submit=Quick%0D%12729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT83 rs1791639 0.777356 0 0 1 0 0 intergenic intergenic intergenic KRT83(dist=22929),KRT85(dist=15679) KRT83(dist=22929),KRT85(dist=15679) ENSG00000170523(dist=22929),ENSG00000135443(dist=15679) Na Na Na Na Na Na Het;T>C 138;10|7 Het;T>C 142;6|7 Hom;T>C 283;0|11 N N - 12 52755097 52755097 A T snp intronic KRT85 ENSG00000135443 keratin 85 chr12:52753790-52761265 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008] Stroke Formation of the cornified envelope GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005198;structural molecule activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KRT85 https://www.uniprot.org/uniprot/P78386 https://hpo.jax.org/app/browse/search?q=KRT85&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602767 http://www.informatics.jax.org/searchtool/Search.do?query=KRT85&submit=Quick%0D%7154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT85 rs1791627 0.616214 0 0 1 0 0 intronic intronic intronic KRT85 KRT85 ENSG00000135443 Na Na Na Na Na Na Het;A>T 177;8|7 Het;A>T 154;4|5 Hom;A>T 205;0|6 N N - 12 52756913 52756913 C A snp intronic KRT85 ENSG00000135443 keratin 85 chr12:52753790-52761265 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008] Stroke Formation of the cornified envelope GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005198;structural molecule activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KRT85 https://www.uniprot.org/uniprot/P78386 https://hpo.jax.org/app/browse/search?q=KRT85&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602767 http://www.informatics.jax.org/searchtool/Search.do?query=KRT85&submit=Quick%0D%7154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT85 rs10876280 0.382788 0 0 1 0 0 intronic intronic intronic KRT85 KRT85 ENSG00000135443 Na Na Na Na Na Na Het;C>A 368;16|13 Het;C>A 229;9|8 Hom;C>A 416;0|13 N N - 12 52866060 52866060 C T snp nonsynonymous SNV G545A R182Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral KRT6C ENSG00000170465 keratin 6C chr12:52862300-52867569 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009] Palmoplantar keratoderma nonepidermolytic focal or diffuse Mice homozygous for a targeted null mutation exhibit delayed wound healing. Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IMP|GO:0070268;cornification;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT6C https://hpo.jax.org/app/browse/search?q=KRT6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612315 http://www.informatics.jax.org/searchtool/Search.do?query=KRT6C&submit=Quick%0D%12712ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT6C rs11608915 0.400559 0.4097 0.5144 0.77 10 13 exonic exonic exonic KRT6C KRT6C ENSG00000170465 nonsynonymous SNV nonsynonymous SNV unknown KRT6C:NM_173086:exon2:c.G545A:p.R182Q, KRT6C:uc001sal.4:exon2:c.G545A:p.R182Q, UNKNOWN Het;C>T 1320;64|54 Het;C>T 1047;34|41 Hom;C>T 2476;0|84 N N - 12 52964417 52964417 A G snp intronic KRT74 ENSG00000170484 keratin 74 chr12:52959566-52967609 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT74 https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608248 http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74 rs657102 0.819888 0.8285 0.7620 1 0 0 intronic intronic intronic KRT74 KRT74 ENSG00000170484 Na Na Na Na Na Na Het;A>G 1667;69|77 Het;A>G 781;54|40 Hom;A>G 3152;0|85 N N - 12 52965173 52965173 T G snp nonsynonymous SNV A813C E271D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KRT74 ENSG00000170484 keratin 74 chr12:52959566-52967609 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT74 https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608248 http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74 rs670741 0.807308 0.8185 0.7449 0.23 3 13 exonic exonic exonic KRT74 KRT74 ENSG00000170484 nonsynonymous SNV nonsynonymous SNV unknown KRT74:NM_175053:exon4:c.A813C:p.E271D, KRT74:uc001sap.1:exon4:c.A813C:p.E271D, UNKNOWN Het;T>G 2632;84|116 Het;T>G 2016;64|89 Hom;T>G 4798;0|180 N N - 12 52965722 52965722 T C snp intronic KRT74 ENSG00000170484 keratin 74 chr12:52959566-52967609 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT74 https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608248 http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74 rs673363 0.807508 0.8185 0.7447 1 0 0 intronic intronic intronic KRT74 KRT74 ENSG00000170484 Na Na Na Na Na Na Het;T>C 201;13|9 Het;T>C 171;6|10 Hom;T>C 366;0|14 N N - 12 52965761 52965761 C T snp synonymous SNV G714A T238T polar,hydrophilic,neutral polar,hydrophilic,neutral KRT74 ENSG00000170484 keratin 74 chr12:52959566-52967609 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT74 https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608248 http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74 rs673449 0.891573 0.8214 0.8006 1 0 0 exonic exonic exonic KRT74 KRT74 ENSG00000170484 synonymous SNV synonymous SNV unknown KRT74:NM_175053:exon3:c.G714A:p.T238T, KRT74:uc001sap.1:exon3:c.G714A:p.T238T, UNKNOWN Het;C>T 645;23|18 Het;C>T 704;15|18 Hom;C>T 1097;0|25 N N - 12 52965782 52965782 T C snp synonymous SNV A693G E231E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KRT74 ENSG00000170484 keratin 74 chr12:52959566-52967609 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT74 https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608248 http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74 rs673476 0.807109 0.8182 0.7447 1 0 0 exonic exonic exonic KRT74 KRT74 ENSG00000170484 synonymous SNV synonymous SNV unknown KRT74:NM_175053:exon3:c.A693G:p.E231E, KRT74:uc001sap.1:exon3:c.A693G:p.E231E, UNKNOWN Het;T>C 682;26|20 Het;T>C 822;16|24 Hom;T>C 1375;0|35 N N - 12 52966137 52966137 T A snp intronic KRT74 ENSG00000170484 keratin 74 chr12:52959566-52967609 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Heart Failure; Tobacco Use Disorder Formation of the cornified envelope GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IDA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT74 https://hpo.jax.org/app/browse/search?q=KRT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608248 http://www.informatics.jax.org/searchtool/Search.do?query=KRT74&submit=Quick%0D%12720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT74 rs685720 0.807508 0 0 1 0 0 intronic intronic intronic KRT74 KRT74 ENSG00000170484 Na Na Na Na Na Na Het;T>A 174;8|9 Ref Hom;T>A 631;0|25 N N - 12 52986132 52986132 T A snp intronic KRT72 Krt72 ENSG00000170486 keratin 72 chr12:52979373-52995322 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009] Formation of the cornified envelope GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT72 https://www.ncbi.nlm.nih.gov/omim/?term=608246 http://www.informatics.jax.org/searchtool/Search.do?query=KRT72&submit=Quick%0D%12721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT72 rs617820 0.885982 0.8212 0.7984 1 0 0 intronic intronic intronic KRT72 KRT72 ENSG00000170486 Na Na Na Na Na Na Het;T>A 314;23|13 Ref Hom;T>A 1076;0|37 N N - 12 53002956 53002956 T C snp ncRNA_intronic KRT73-AS1 rs591636 0.817692 0.8132 0 1 0 0 intronic intronic ncRNA_intronic KRT73 KRT73 ENSG00000257495 Na Na Na Na Na Na Het;T>C 100;11|6 Het;T>C 309;5|12 Hom;T>C 286;0|11 N N - 12 53006138 53006138 A C snp ncRNA_exonic KRT73-AS1 rs680447 0.332668 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic KRT73-AS1 KRT73 ENSG00000257495 Na Na Na Na Na Na Het;A>C 309;28|15 Ref Hom;A>C 987;0|35 N N - 12 53163467 53163467 A C snp intronic KRT76 Krt76 ENSG00000185069 keratin 76 chr12:53161939-53171129 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009] Alcoholism; Body Fat Distribution Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. Formation of the cornified envelope GO:0007010;cytoskeleton organization;NAS|GO:0008544;epidermis development;IEA|GO:0031424;keratinization;TAS|GO:0043473;pigmentation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0070268;cornification;TAS GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT76 https://www.ncbi.nlm.nih.gov/omim/?term=616671 http://www.informatics.jax.org/searchtool/Search.do?query=KRT76&submit=Quick%0D%15337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT76 rs10876340 0.215455 0 0 1 0 0 intronic intronic intronic KRT76 KRT76 ENSG00000185069 Na Na Na Na Na Na Het;A>C 552;8|19 Het;A>C 346;12|15 Hom;A>C 548;0|15 N N - 12 53165862 53165862 C T snp intronic KRT76 Krt76 ENSG00000185069 keratin 76 chr12:53161939-53171129 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009] Alcoholism; Body Fat Distribution Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. Formation of the cornified envelope GO:0007010;cytoskeleton organization;NAS|GO:0008544;epidermis development;IEA|GO:0031424;keratinization;TAS|GO:0043473;pigmentation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0070268;cornification;TAS GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT76 https://www.ncbi.nlm.nih.gov/omim/?term=616671 http://www.informatics.jax.org/searchtool/Search.do?query=KRT76&submit=Quick%0D%15337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT76 rs12296490 0.198482 0.1868 0.1536 1 0 0 intronic intronic intronic KRT76 KRT76 ENSG00000185069 Na Na Na Na Na Na Het;C>T 1645;99|73 Het;C>T 1354;93|66 Hom;C>T 3695;0|143 N N - 12 53165949 53165949 C T snp nonsynonymous SNV G1066A E356K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) KRT76 Krt76 ENSG00000185069 keratin 76 chr12:53161939-53171129 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009] Alcoholism; Body Fat Distribution Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. Formation of the cornified envelope GO:0007010;cytoskeleton organization;NAS|GO:0008544;epidermis development;IEA|GO:0031424;keratinization;TAS|GO:0043473;pigmentation;IEA|GO:0048733;sebaceous gland development;IEA|GO:0070268;cornification;TAS GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT76 https://www.ncbi.nlm.nih.gov/omim/?term=616671 http://www.informatics.jax.org/searchtool/Search.do?query=KRT76&submit=Quick%0D%15337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT76 rs12296548 0.13778 0.1168 0.1355 0.85 11 13 exonic exonic exonic KRT76 KRT76 ENSG00000185069 nonsynonymous SNV nonsynonymous SNV unknown KRT76:NM_015848:exon5:c.G1066A:p.E356K, KRT76:uc001sax.3:exon5:c.G1066A:p.E356K, UNKNOWN Het;C>T 861;53|38 Het;C>T 810;36|35 Hom;C>T 1843;0|63 N N - 12 53188209 53188209 G GC indel intronic KRT3 ENSG00000186442 keratin 3 chr12:53183469-53189901 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] Cell Adhesion Molecules Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. Formation of the cornified envelope GO:0030855;epithelial cell differentiation;ISS|GO:0031424;keratinization;TAS|GO:0045104;intermediate filament cytoskeleton organization;IMP|GO:0070268;cornification;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;TAS|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/KRT3 https://hpo.jax.org/app/browse/search?q=KRT3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148043 http://www.informatics.jax.org/searchtool/Search.do?query=KRT3&submit=Quick%0D%15640ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT3 rs3215031 0.45647 0 0 1 0 0 intronic intronic intronic KRT3 KRT3 ENSG00000186442 Na Na Na Na Na Na Het;+C 216;20|11 Ref Hom;+C 207;1|8 N N - 12 53292881 53292881 A G snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs4397939 0.840655 0 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;A>G 85;2|3 Ref Hom;A>G 142;0|4 N N - 12 53294381 53294381 T C snp synonymous SNV A681G L227L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs8608 0.567492 0.4859 0.5530 1 0 0 exonic exonic exonic KRT8 KRT8 ENSG00000170421 synonymous SNV synonymous SNV unknown KRT8:NM_001256293:exon5:c.A681G:p.L227L,KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_002273:exon4:c.A681G:p.L227L, KRT8:uc009zmk.1:exon5:c.A765G:p.L255L,KRT8:uc009zml.2:exon5:c.A681G:p.L227L,KRT8:uc009zmm.2:exon5:c.A681G:p.L227L,KRT8:uc001sbd.2:exon4:c.A681G:p.L227L, UNKNOWN Het;T>C 944;59|45 Ref Hom;T>C 2396;2|92 N N - 12 53295058 53295058 G C snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs5019800 0.567292 0.4779 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;G>C 119;6|4 Ref Hom;G>C 557;0|13 N N - 12 53295063 53295063 T C snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs5019799 0.567292 0.4724 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;T>C 119;7|4 Ref Hom;T>C 557;0|13 N N - 12 53295079 53295079 G A snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs4403881 0.567492 0 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;G>A 36;7|3 Ref Hom;G>A 557;0|13 N N - 12 53295081 53295081 T G snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs4531558 0.567292 0 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;T>G 36;7|1 Ref Hom;T>G 557;0|13 N N - 12 53295551 53295551 T G snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs2035876 0.840455 0 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;T>G 44;5|4 Ref Hom;T>G 297;0|11 N N - 12 53295917 53295917 A G snp intronic KRT8 Krt8 ENSG00000170421 keratin 8 chr12:53290977-53343738 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] pancreatitis; Hepatitis C, Chronic|Liver Cirrhosis; Drug-Induced Liver Injury|Liver Failure, Acute; liver disease, chronic; Crohn's disease ulcerative colitis; Alzheimer's disease ; pancreatitis, alcoholic; Liver Cirrhosis, Biliary Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. Formation of the cornified envelope GO:0016032;viral process;IEA|GO:0031424;keratinization;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0045214;sarcomere organization;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:0051707;response to other organism;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0070268;cornification;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0005911;cell-cell junction;IEA|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT8 https://hpo.jax.org/app/browse/search?q=KRT8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148060 http://www.informatics.jax.org/searchtool/Search.do?query=KRT8&submit=Quick%0D%12699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT8 rs2035875 0.566893 0 0 1 0 0 intronic intronic intronic KRT8 KRT8 ENSG00000170421 Na Na Na Na Na Na Het;A>G 530;23|24 Ref Hom;A>G 716;0|27 N N - 12 53433709 53433709 C G snp ncRNA_exonic AC068888.1 rs1356993 0.753594 0 0 1 0 0 intronic intronic ncRNA_exonic EIF4B EIF4B ENSG00000257337 Na Na Na Na Na Na Het;C>G 117;8|5 Ref Hom;C>G 82;0|3 N N - 12 540994 540994 A G snp intronic CCDC77 Ccdc77 ENSG00000120647 coiled-coil domain containing 77 chr12:498439-551811 GO:0005813;centrosome;IDA|GO:0016020;membrane;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCDC77 https://www.uniprot.org/uniprot/Q9BR77 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC77&submit=Quick%0D%5224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC77 rs7310504 0.796326 0.7563 0.7549 1 0 0 intronic intronic intronic CCDC77 CCDC77 ENSG00000120647 Na Na Na Na Na Na Het;A>G 982;41|36 Het;A>G 980;34|38 Hom;A>G 1344;0|44 N N - 12 54109733 54109733 A G snp synonymous SNV T849C S283S polar,hydrophilic,neutral polar,hydrophilic,neutral CALCOCO1 Calcoco1 ENSG00000012822 calcium binding and coiled-coil domain 1 chr12:54104903-54121529 Cholesterol, HDL; Biliary Atresia; breast cancer ; Suntan; Panic Disorder; panic disorder; Heart Failure; Audiometry, Pure-Tone GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;ISS|GO:0010628;positive regulation of gene expression;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0001047;core promoter binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003712;transcription cofactor activity;IDA|GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0070016;armadillo repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CALCOCO1 https://www.uniprot.org/uniprot/Q9P1Z2 http://www.informatics.jax.org/searchtool/Search.do?query=CALCOCO1&submit=Quick%0D%583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCOCO1 rs3741658 0.420327 0.3131 0.3460 1 0 0 exonic exonic exonic CALCOCO1 CALCOCO1 ENSG00000012822 synonymous SNV synonymous SNV unknown CALCOCO1:NM_001143682:exon8:c.T849C:p.S283S,CALCOCO1:NM_020898:exon9:c.T1104C:p.S368S, CALCOCO1:uc001seg.3:exon8:c.T579C:p.S193S,CALCOCO1:uc009znd.3:exon9:c.T1104C:p.S368S,CALCOCO1:uc010som.2:exon8:c.T849C:p.S283S,CALCOCO1:uc010soo.1:exon9:c.T1083C:p.S361S,CALCOCO1:uc001sef.3:exon9:c.T1104C:p.S368S,CALCOCO1:uc010son.2:exon8:c.T735C:p.S245S,CALCOCO1:uc001seh.2:exon9:c.T1104C:p.S368S, UNKNOWN Het;A>G 1483;88|75 Het;A>G 1212;76|60 Hom;A>G 3319;0|121 N N - 12 54115624 54115624 C A snp intronic CALCOCO1 Calcoco1 ENSG00000012822 calcium binding and coiled-coil domain 1 chr12:54104903-54121529 Cholesterol, HDL; Biliary Atresia; breast cancer ; Suntan; Panic Disorder; panic disorder; Heart Failure; Audiometry, Pure-Tone GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;ISS|GO:0010628;positive regulation of gene expression;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0001047;core promoter binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003712;transcription cofactor activity;IDA|GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0070016;armadillo repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CALCOCO1 https://www.uniprot.org/uniprot/Q9P1Z2 http://www.informatics.jax.org/searchtool/Search.do?query=CALCOCO1&submit=Quick%0D%583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCOCO1 rs1079340 0.248403 0 0 1 0 0 intronic intronic intronic CALCOCO1 CALCOCO1 ENSG00000012822 Na Na Na Na Na Na Het;C>A 180;5|7 Ref Hom;C>A 145;0|5 N N - 12 54117592 54117592 G A snp intronic CALCOCO1 Calcoco1 ENSG00000012822 calcium binding and coiled-coil domain 1 chr12:54104903-54121529 Cholesterol, HDL; Biliary Atresia; breast cancer ; Suntan; Panic Disorder; panic disorder; Heart Failure; Audiometry, Pure-Tone GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;ISS|GO:0010628;positive regulation of gene expression;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0001047;core promoter binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003712;transcription cofactor activity;IDA|GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0070016;armadillo repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CALCOCO1 https://www.uniprot.org/uniprot/Q9P1Z2 http://www.informatics.jax.org/searchtool/Search.do?query=CALCOCO1&submit=Quick%0D%583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCOCO1 rs10783596 0.167133 0.1273 0.1777 1 0 0 intronic intronic intronic CALCOCO1 CALCOCO1 ENSG00000012822 Na Na Na Na Na Na Het;G>A 537;29|25 Ref Hom;G>A 897;0|31 N N - 12 54385599 54385599 C T snp ncRNA_exonic MIR196A2 rs11614913 0.332668 0.3406 0.4220 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR196A2 MIR196A2 ENSG00000207924 Na Na Na Na Na Na Het;C>T 1158;23|53 Ref Hom;C>T 1915;0|71 N N - 12 54393770 54393770 A G snp ncRNA_exonic HOXC-AS1 rs56368105 0.39357 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic HOXC-AS1 HOXC9 ENSG00000250451 Na Na Na Na Na Na Het;A>G 696;35|21 Ref Hom;A>G 1320;0|31 N N - 12 54393774 54393774 G A snp ncRNA_exonic HOXC-AS1 rs12817092 0.570288 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic HOXC-AS1 HOXC9 ENSG00000250451 Na Na Na Na Na Na Het;G>A 663;35|19 Ref Hom;G>A 1290;0|29 N N - 12 54393783 54393783 G C snp ncRNA_exonic HOXC-AS1 rs56154542 0.332069 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic HOXC-AS1 HOXC9 ENSG00000250451 Na Na Na Na Na Na Het;G>C 577;33|17 Ref Hom;G>C 1229;0|26 N N - 12 54394497 54394497 C T snp synonymous SNV C525T A175A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HOXC9 Hoxc9 ENSG00000180806 homeobox C9 chr12:54388679-54397121 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008] Mice homozygous for disruptions in this gene grow more slowly than normal and develop hunched backs. Forward transformations seen in vertebrae from L1 and forward to around T10. Abnormalities in the sternum and ribs attachments to the sternum are also seen. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016235;aggresome;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOXC9 https://www.ncbi.nlm.nih.gov/omim/?term=142971 http://www.informatics.jax.org/searchtool/Search.do?query=HOXC9&submit=Quick%0D%14528ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXC9 rs2241820 0.578075 0.6053 0.6682 1 0 0 exonic exonic exonic HOXC9 HOXC9 ENSG00000180806 synonymous SNV synonymous SNV unknown HOXC9:NM_006897:exon1:c.C525T:p.A175A, HOXC9:uc001seq.3:exon1:c.C525T:p.A175A, UNKNOWN Het;C>T 614;47|32 Ref Hom;C>T 1103;0|42 N N - 12 54405190 54405190 C T snp UTR3 *25C>T HOXC8 Hoxc8 ENSG00000037965 homeobox C8 chr12:54402832-54407570 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008] Mice homozygous for a hypomorphic allele exhibit abnormal growth and axial skeleton morphology. Mice homozygous for a knock-out allele exhibit postnatal lethality, axial skeletal defects, abnormal growth, and abnormal gait. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0030182;neuron differentiation;IEA|GO:0048705;skeletal system morphogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015630;microtubule cytoskeleton;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOXC8 https://www.uniprot.org/uniprot/P31273 https://www.ncbi.nlm.nih.gov/omim/?term=142970 http://www.informatics.jax.org/searchtool/Search.do?query=HOXC8&submit=Quick%0D%795ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXC8 rs4142680 0.465256 0 0.4369 1 0 0 UTR3 UTR3 UTR3 HOXC8(NM_022658:c.*25C>T) HOXC8(uc001ser.3:c.*25C>T) ENSG00000037965(ENST00000040584:c.*25C>T) Na Na Na Na Na Na Het;C>T 136;7|7 Ref Hom;C>T 554;0|18 N N - 12 54428011 54428011 C A snp ncRNA_intronic AC012531.2 rs2071449 0.28155 0.2839 0.3468 1 0 0 intronic intronic ncRNA_intronic HOXC4,HOXC5 HOXC4,HOXC5 ENSG00000273046 Na Na Na Na Na Na Het;C>A 446;21|16 Ref Hom;C>A 736;0|24 N N - 12 54428532 54428532 C T snp ncRNA_exonic AC012531.2 rs2071450 0.404353 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic HOXC5(NM_018953:c.*256C>T) HOXC5(uc001sew.3:c.*256C>T) ENSG00000273046 Na Na Na Na Na Na Het;C>T 2282;84|98 Ref Hom;C>T 3440;0|125 N N - 12 54428747 54428747 G A snp ncRNA_exonic AC012531.2 rs61921797 0.308307 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic HOXC5(NM_018953:c.*471G>A) HOXC5(uc001sew.3:c.*471G>A) ENSG00000273046 Na Na Na Na Na Na Het;G>A 1579;59|66 Ref Hom;G>A 3180;0|118 N N - 12 54905815 54905815 C G snp synonymous SNV C717G L239L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NCKAP1L Nckap1l ENSG00000123338 NCK associated protein 1 like chr12:54891495-54937726 This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. Neutrophil degranulation GO:0001782;B cell homeostasis;IEA|GO:0002262;myeloid cell homeostasis;IEA|GO:0006461;protein complex assembly;IEA|GO:0006935;chemotaxis;IDA|GO:0030011;maintenance of cell polarity;IMP|GO:0030593;neutrophil chemotaxis;IDA|GO:0030838;positive regulation of actin filament polymerization;IMP|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0032147;activation of protein kinase activity;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032715;negative regulation of interleukin-6 production;IEA|GO:0033630;positive regulation of cell adhesion mediated by integrin;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0035509;negative regulation of myosin-light-chain-phosphatase activity;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042493;response to drug;IMP|GO:0043029;T cell homeostasis;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043372;positive regulation of CD4-positive, alpha-beta T cell differentiation;IEA|GO:0043378;positive regulation of CD8-positive, alpha-beta T cell differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045621;positive regulation of lymphocyte differentiation;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048821;erythrocyte development;IEP|GO:0050853;B cell receptor signaling pathway;IMP|GO:0060100;positive regulation of phagocytosis, engulfment;IEA|GO:0070358;actin polymerization-dependent cell motility;IMP|GO:0090023;positive regulation of neutrophil chemotaxis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031209;SCAR complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005096;GTPase activator activity;IMP|GO:0005515;protein binding;IPI|GO:0030295;protein kinase activator activity;IMP|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NCKAP1L https://www.uniprot.org/uniprot/P55160 https://www.ncbi.nlm.nih.gov/omim/?term=141180 http://www.informatics.jax.org/searchtool/Search.do?query=NCKAP1L&submit=Quick%0D%5510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCKAP1L rs2458409 0.81869 0.7757 0.8169 1 0 0 exonic exonic exonic NCKAP1L NCKAP1L ENSG00000123338 synonymous SNV synonymous SNV unknown NCKAP1L:NM_001184976:exon9:c.C717G:p.L239L,NCKAP1L:NM_005337:exon9:c.C867G:p.L289L, NCKAP1L:uc010soy.2:exon9:c.C717G:p.L239L,NCKAP1L:uc001sgc.4:exon9:c.C867G:p.L289L, UNKNOWN Het;C>G 2130;78|95 Het;C>G 1258;64|57 Hom;C>G 3742;0|136 N N - 12 54910837 54910837 G A snp intronic NCKAP1L Nckap1l ENSG00000123338 NCK associated protein 1 like chr12:54891495-54937726 This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. Neutrophil degranulation GO:0001782;B cell homeostasis;IEA|GO:0002262;myeloid cell homeostasis;IEA|GO:0006461;protein complex assembly;IEA|GO:0006935;chemotaxis;IDA|GO:0030011;maintenance of cell polarity;IMP|GO:0030593;neutrophil chemotaxis;IDA|GO:0030838;positive regulation of actin filament polymerization;IMP|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0032147;activation of protein kinase activity;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032715;negative regulation of interleukin-6 production;IEA|GO:0033630;positive regulation of cell adhesion mediated by integrin;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0035509;negative regulation of myosin-light-chain-phosphatase activity;IMP|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042327;positive regulation of phosphorylation;IMP|GO:0042493;response to drug;IMP|GO:0043029;T cell homeostasis;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043372;positive regulation of CD4-positive, alpha-beta T cell differentiation;IEA|GO:0043378;positive regulation of CD8-positive, alpha-beta T cell differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045588;positive regulation of gamma-delta T cell differentiation;IEA|GO:0045621;positive regulation of lymphocyte differentiation;IEA|GO:0045648;positive regulation of erythrocyte differentiation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048821;erythrocyte development;IEP|GO:0050853;B cell receptor signaling pathway;IMP|GO:0060100;positive regulation of phagocytosis, engulfment;IEA|GO:0070358;actin polymerization-dependent cell motility;IMP|GO:0090023;positive regulation of neutrophil chemotaxis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031209;SCAR complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005096;GTPase activator activity;IMP|GO:0005515;protein binding;IPI|GO:0030295;protein kinase activator activity;IMP|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NCKAP1L https://www.uniprot.org/uniprot/P55160 https://www.ncbi.nlm.nih.gov/omim/?term=141180 http://www.informatics.jax.org/searchtool/Search.do?query=NCKAP1L&submit=Quick%0D%5510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCKAP1L rs1691630 0.903954 0 0 1 0 0 intronic intronic intronic NCKAP1L NCKAP1L ENSG00000123338 Na Na Na Na Na Na Het;G>A 668;24|27 Het;G>A 655;32|29 Hom;G>A 1500;0|51 N N - 12 54967656 54967656 T A snp intronic PDE1B Pde1b ENSG00000123360 phosphodiesterase 1B chr12:54943134-54973023 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations. G alpha (s) signalling events GO:0001505;regulation of neurotransmitter levels;IEA|GO:0001975;response to amphetamine;IEA|GO:0006198;cAMP catabolic process;IDA|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;IEA|GO:0007626;locomotory behavior;IEA|GO:0008542;visual learning;IEA|GO:0030224;monocyte differentiation;IEP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0042053;regulation of dopamine metabolic process;IEA|GO:0042428;serotonin metabolic process;IEA|GO:0046069;cGMP catabolic process;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA GO:0004112;cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004117;calmodulin-dependent cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS|GO:0048101;calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE1B https://www.uniprot.org/uniprot/Q01064 https://www.ncbi.nlm.nih.gov/omim/?term=171891 http://www.informatics.jax.org/searchtool/Search.do?query=PDE1B&submit=Quick%0D%5516ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE1B rs2643610 0 0 0 1 0 0 intronic intronic intronic PDE1B PDE1B ENSG00000123360 Na Na Na Na Na Na Het;T>A 190;4|6 Ref Hom;T>A 107;0|3 N N - 12 54967658 54967658 T A snp intronic PDE1B Pde1b ENSG00000123360 phosphodiesterase 1B chr12:54943134-54973023 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations. G alpha (s) signalling events GO:0001505;regulation of neurotransmitter levels;IEA|GO:0001975;response to amphetamine;IEA|GO:0006198;cAMP catabolic process;IDA|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;IEA|GO:0007626;locomotory behavior;IEA|GO:0008542;visual learning;IEA|GO:0030224;monocyte differentiation;IEP|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IDA|GO:0042053;regulation of dopamine metabolic process;IEA|GO:0042428;serotonin metabolic process;IEA|GO:0046069;cGMP catabolic process;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043025;neuronal cell body;IEA GO:0004112;cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004117;calmodulin-dependent cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS|GO:0048101;calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE1B https://www.uniprot.org/uniprot/Q01064 https://www.ncbi.nlm.nih.gov/omim/?term=171891 http://www.informatics.jax.org/searchtool/Search.do?query=PDE1B&submit=Quick%0D%5516ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE1B rs3837463 0 0 0 1 0 0 intronic intronic intronic PDE1B PDE1B ENSG00000123360 Na Na Na Na Na Na Het;T>A 312;2|9 Het;T>A 143;2|5 Hom;T>A 107;0|3 N N - 12 54970236 54970236 G A snp UTR3 *936C>T PPP1R1A Ppp1r1a ENSG00000135447 protein phosphatase 1 regulatory inhibitor subunit 1A chr12:54969171-54982443 Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic Homozygous mutant mice show decreased long term poteniation, but normal performance in water maze tests. GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007165;signal transduction;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0043086;negative regulation of catalytic activity;IEA GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP1R1A https://www.uniprot.org/uniprot/Q13522 https://www.ncbi.nlm.nih.gov/omim/?term=613246 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R1A&submit=Quick%0D%7156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R1A rs11170976 0.176917 0 0 1 0 0 intronic intronic UTR3 PDE1B PDE1B ENSG00000135447(ENST00000547431:c.*936C>T) Na Na Na Na Na Na Het;G>A 116;1|5 Het;G>A 119;2|5 Hom;G>A 232;0|8 N N - 12 55002014 55002014 C T snp ncRNA_exonic GLYCAM1 rs1795819 0.749201 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic GLYCAM1 GLYCAM1 ENSG00000257780 Na Na Na Na Na Na Het;C>T 102;8|6 Het;C>T 67;9|5 Hom;C>T 481;0|19 N N - 12 55002053 55002053 C G snp ncRNA_exonic GLYCAM1 rs1795818 0.682508 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic GLYCAM1 GLYCAM1 ENSG00000257780 Na Na Na Na Na Na Het;C>G 191;8|8 Het;C>G 103;12|6 Hom;C>G 608;0|23 N N - 12 55002531 55002531 T C snp ncRNA_exonic GLYCAM1 rs1495353 0.246605 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic GLYCAM1 GLYCAM1 ENSG00000257780 Na Na Na Na Na Na Het;T>C 1196;46|55 Het;T>C 1227;39|54 Hom;T>C 2117;0|75 N N - 12 55003931 55003931 G A snp ncRNA_intronic GLYCAM1 rs939463 0.522364 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic GLYCAM1 GLYCAM1 ENSG00000257780 Na Na Na Na Na Na Het;G>A 555;15|23 Het;G>A 380;16|17 Hom;G>A 836;0|30 N N - 12 56031611 56031611 A G snp synonymous SNV A936G S312S polar,hydrophilic,neutral polar,hydrophilic,neutral OR10P1 Olfr796 ENSG00000175398 olfactory receptor family 10 subfamily P member 1 chr12:56030644-56031638 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR10P1 http://www.informatics.jax.org/searchtool/Search.do?query=OR10P1&submit=Quick%0D%13695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10P1 rs11171631 0.228435 0.1538 0.1891 1 0 0 exonic exonic exonic OR10P1 OR10P1 ENSG00000175398 synonymous SNV synonymous SNV unknown OR10P1:NM_206899:exon1:c.A936G:p.S312S, OR10P1:uc010spq.2:exon1:c.A936G:p.S312S, UNKNOWN Het;A>G 694;46|26 Ref Hom;A>G 1544;1|53 N N - 12 56151291 56151291 T C snp UTR3 *5A>G SARNP Sarnp ENSG00000205323 SAP domain containing ribonucleoprotein chr12:56146247-56211540 This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] mRNA 3'-end processing GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006417;regulation of translation;IEA|GO:0006810;transport;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0051028;mRNA transport;IEA GO:0000346;transcription export complex;IDA|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016607;nuclear speck;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SARNP https://www.ncbi.nlm.nih.gov/omim/?term=610049 http://www.informatics.jax.org/searchtool/Search.do?query=SARNP&submit=Quick%0D%17495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SARNP rs7068 0.219649 0.2194 0.2727 1 0 0 UTR3 UTR3 UTR3 SARNP(NM_033082:c.*5A>G) DNAJC14(uc001shu.2:c.*5A>G),SARNP(uc001sht.3:c.*5A>G) ENSG00000205323(ENST00000546604:c.*5A>G,ENST00000552884:c.*432A>G,ENST00000444631:c.*5A>G,ENST00000336133:c.*5A>G),ENSG00000257390(ENST00000546837:c.*5A>G) Na Na Na Na Na Na Het;T>C 659;16|26 Ref Hom;T>C 2147;2|82 N N - 12 56368078 56368078 G A snp intronic RAB5B Rab5b ENSG00000111540 RAB5B, member RAS oncogene family chr12:56367697-56388490 type 1 diabetes; Vitiligo; diabetes, type 1 RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0007032;endosome organization;IEA|GO:0015031;protein transport;IEA|GO:0019882;antigen processing and presentation;IMP|GO:0030100;regulation of endocytosis;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0048227;plasma membrane to endosome transport;IMP|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IDA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0030139;endocytic vesicle;IBA|GO:0030667;secretory granule membrane;TAS|GO:0031901;early endosome membrane;TAS|GO:0042470;melanosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0030742;GTP-dependent protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAB5B https://www.uniprot.org/uniprot/P61020 https://www.ncbi.nlm.nih.gov/omim/?term=179514 http://www.informatics.jax.org/searchtool/Search.do?query=RAB5B&submit=Quick%0D%4087ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB5B rs11171710 0.351837 0 0 1 0 0 intronic intronic intronic RAB5B RAB5B ENSG00000111540 Na Na Na Na Na Na Het;G>A 211;9|11 Het;G>A 164;2|8 Hom;G>A 439;0|19 N N - 12 56551339 56551339 C CAAA indel ncRNA_intronic AC034102.5 rs28365930 0.296725 0.2988 0.3760 1 0 0 intronic intronic ncRNA_intronic MYL6B MYL6B ENSG00000257809 Na Na Na Na Na Na Het;+AAA 683;11|19 Het;+AAA 350;11|10 Hom;+AAA 666;0|15 N N - 12 56814570 56814570 T G snp intronic TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs812279 0.525359 0.4288 0.4783 1 0 0 intronic intronic intronic TIMELESS TIMELESS ENSG00000111602 Na Na Na Na Na Na Het;T>G 1065;24|36 Ref Hom;T>G 1874;1|64 N N - 12 56815922 56815922 C T snp nonsynonymous SNV G2492A R831Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs774047 0.498802 0.3824 0.4898 0.08 1 13 exonic exonic exonic TIMELESS TIMELESS ENSG00000111602 nonsynonymous SNV nonsynonymous SNV unknown TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q, TIMELESS:uc001slf.2:exon20:c.G2492A:p.R831Q, UNKNOWN Het;C>T 874;57|39 Ref Hom;C>T 2164;0|81 N N - 12 56818983 56818983 C CT indel intronic TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs35382350 0.565296 0 0.5341 1 0 0 intronic intronic intronic TIMELESS TIMELESS ENSG00000111602 Na Na Na Na Na Na Het;+T 130;11|7 Ref Hom;+T 818;0|19 N N - 12 56821998 56821998 A G snp intronic TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs774026 0.497005 0.3832 0.4955 1 0 0 intronic intronic intronic TIMELESS TIMELESS ENSG00000111602 Na Na Na Na Na Na Het;A>G 795;29|34 Ref Hom;A>G 1829;0|65 N N - 12 56822378 56822378 T A snp nonsynonymous SNV A1363T I455L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs774027 0.506589 0.3917 0.4941 0.08 1 13 exonic exonic exonic TIMELESS TIMELESS ENSG00000111602 nonsynonymous SNV nonsynonymous SNV unknown TIMELESS:NM_003920:exon12:c.A1363T:p.I455L, TIMELESS:uc001slf.2:exon12:c.A1363T:p.I455L,TIMELESS:uc001slg.2:exon12:c.A1360T:p.I454L, UNKNOWN Het;T>A 918;60|43 Ref Hom;T>A 2348;1|88 N N - 12 56824948 56824949 GC G indel intronic TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs79733408 0.38738 0 0 1 0 0 intronic intronic intronic TIMELESS TIMELESS ENSG00000111602 Na Na Na Na Na Na Het;-C 151;5|6 Ref Hom;-C 109;0|4 N N - 12 56825070 56825070 A G snp intronic TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs2638304 0.504393 0 0 1 0 0 intronic intronic intronic TIMELESS TIMELESS ENSG00000111602 Na Na Na Na Na Na Het;A>G 68;2|3 Ref Hom;A>G 82;0|3 N N - 12 56825311 56825311 C T snp synonymous SNV G765A V255V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TIMELESS Timeless ENSG00000111602 timeless circadian clock chr12:56810903-56843187 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Tobacco Use Disorder; bipolar disorder; asthma; atopy; Alcoholism; schizophrenia | bipolar disorder; prostate cancer; metabolic syndrome; depression; asthma; rheumatoid arthritis; bipolar disorder schizoaffective disorder schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Sleep Disorders; diurnal preferences Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. Processing of DNA double-strand break ends GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006260;DNA replication;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0007623;circadian rhythm;TAS|GO:0009582;detection of abiotic stimulus;TAS|GO:0009628;response to abiotic stimulus;TAS|GO:0030324;lung development;IEA|GO:0042752;regulation of circadian rhythm;IMP|GO:0044770;cell cycle phase transition;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048511;rhythmic process;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0051301;cell division;IEA|GO:0072711;cellular response to hydroxyurea;IMP|GO:0072719;cellular response to cisplatin;IMP|GO:1904976;cellular response to bleomycin;IMP|GO:2000781;positive regulation of double-strand break repair;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMELESS https://www.uniprot.org/uniprot/Q9UNS1 https://www.ncbi.nlm.nih.gov/omim/?term=603887 http://www.informatics.jax.org/searchtool/Search.do?query=TIMELESS&submit=Quick%0D%4091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMELESS rs774033 0.504193 0.3918 0.4925 1 0 0 exonic exonic exonic TIMELESS TIMELESS ENSG00000111602 synonymous SNV synonymous SNV unknown TIMELESS:NM_003920:exon8:c.G765A:p.V255V, TIMELESS:uc001slf.2:exon8:c.G765A:p.V255V,TIMELESS:uc001slg.2:exon8:c.G762A:p.V254V, UNKNOWN Het;C>T 903;70|44 Ref Hom;C>T 2030;0|74 N N - 12 56845358 56845358 T C snp intronic MIP Mip ENSG00000135517 major intrinsic protein of lens fiber chr12:56843286-56862950 Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygotes have microphthalmia and lens opacity. Other defects may include degeneration of lens fiber cells, vacuolization of lens fibers and reduced gamma:alpha crystallin ratio. Heterozygotes have less severe forms of lens cataract and microphthalmia. Passive transport by Aquaporins GO:0002088;lens development in camera-type eye;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007601;visual perception;IEA|GO:0034220;ion transmembrane transport;IBA|GO:0045785;positive regulation of cell adhesion;IDA|GO:0050896;response to stimulus;IEA|GO:0051289;protein homotetramerization;IDA|GO:1990349;gap junction-mediated intercellular transport;IDA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005921;gap junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IBA|GO:0030054;cell junction;IEA GO:0005212;structural constituent of eye lens;IEA|GO:0005215;transporter activity;IEA|GO:0005516;calmodulin binding;ISS|GO:0015250;water channel activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/MIP https://www.uniprot.org/uniprot/P30301 https://hpo.jax.org/app/browse/search?q=MIP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=154050 http://www.informatics.jax.org/searchtool/Search.do?query=MIP&submit=Quick%0D%7171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIP rs7953824 0.412141 0 0 1 0 0 intronic intronic intronic MIP MIP ENSG00000135517 Na Na Na Na Na Na Het;T>C 87;3|4 Ref Hom;T>C 426;0|11 N N - 12 56848481 56848481 T C snp upstream MIP Mip ENSG00000135517 major intrinsic protein of lens fiber chr12:56843286-56862950 Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygotes have microphthalmia and lens opacity. Other defects may include degeneration of lens fiber cells, vacuolization of lens fibers and reduced gamma:alpha crystallin ratio. Heterozygotes have less severe forms of lens cataract and microphthalmia. Passive transport by Aquaporins GO:0002088;lens development in camera-type eye;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0007601;visual perception;IEA|GO:0034220;ion transmembrane transport;IBA|GO:0045785;positive regulation of cell adhesion;IDA|GO:0050896;response to stimulus;IEA|GO:0051289;protein homotetramerization;IDA|GO:1990349;gap junction-mediated intercellular transport;IDA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005921;gap junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IBA|GO:0030054;cell junction;IEA GO:0005212;structural constituent of eye lens;IEA|GO:0005215;transporter activity;IEA|GO:0005516;calmodulin binding;ISS|GO:0015250;water channel activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/MIP https://www.uniprot.org/uniprot/P30301 https://hpo.jax.org/app/browse/search?q=MIP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=154050 http://www.informatics.jax.org/searchtool/Search.do?query=MIP&submit=Quick%0D%7171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIP rs2269348 0.411741 0 0 1 0 0 upstream intronic upstream MIP MIP ENSG00000135517 Na Na Na Na Na Na Het;T>C 193;6|7 Ref Hom;T>C 591;0|18 N N - 12 56869577 56869577 C CT indel UTR3 *358G>AG GLS2 Gls2 ENSG00000135423 glutaminase 2 chr12:56864736-56882198 The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Metabolism Amino acid synthesis and interconversion (transamination) GO:0006520;cellular amino acid metabolic process;TAS|GO:0006537;glutamate biosynthetic process;IBA|GO:0006541;glutamine metabolic process;IEA|GO:0006543;glutamine catabolic process;IBA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0014047;glutamate secretion;TAS|GO:0042981;regulation of apoptotic process;IMP|GO:0072593;reactive oxygen species metabolic process;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS GO:0004359;glutaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLS2 https://www.uniprot.org/uniprot/Q9UI32 https://www.ncbi.nlm.nih.gov/omim/?term=606365 http://www.informatics.jax.org/searchtool/Search.do?query=GLS2&submit=Quick%0D%7147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLS2 rs11441969 0.509585 0 0 1 0 0 intronic intronic UTR3 GLS2 GLS2 ENSG00000135423(ENST00000486896:c.*358G>AG) Na Na Na Na Na Na Het;+T 151;4|6 Ref Hom;+T 298;0|9 N N - 12 57234747 57234747 T C snp ncRNA_intronic AC121758.1 rs736755 0.622005 0 0 1 0 0 intergenic intergenic ncRNA_intronic HSD17B6(dist=53173),SDR9C7(dist=82191) HSD17B6(dist=53173),SDR9C7(dist=82191) ENSG00000258679 Na Na Na Na Na Na Het;T>C 32;7|3 Het;T>C 135;2|7 Hom;T>C 366;0|13 N N - 12 57857354 57857354 T C snp intronic GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs10876987 0.570687 0 0 1 0 0 intronic intronic intronic GLI1 GLI1 ENSG00000111087 Na Na Na Na Na Na Het;T>C 655;14|19 Het;T>C 291;8|10 Hom;T>C 850;0|23 N N - 12 57858414 57858414 A G snp intronic GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs3817475 0.365216 0.4977 0.5127 1 0 0 intronic intronic intronic GLI1 GLI1 ENSG00000111087 Na Na Na Na Na Na Het;A>G 487;33|22 Het;A>G 645;21|27 Hom;A>G 1042;3|36 N N - 12 57858835 57858835 G A snp intronic GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs3817474 0.363019 0 0 1 0 0 intronic intronic intronic GLI1 GLI1 ENSG00000111087 Na Na Na Na Na Na Het;G>A 464;28|17 Het;G>A 441;16|17 Hom;G>A 823;0|28 N N - 12 57859431 57859431 G A snp synonymous SNV G576A E192E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs2228225 0.363019 0.4976 0.4999 1 0 0 exonic exonic exonic GLI1 GLI1 ENSG00000111087 synonymous SNV synonymous SNV unknown GLI1:NM_005269:exon6:c.G576A:p.E192E,GLI1:NM_001160045:exon4:c.G192A:p.E64E,GLI1:NM_001167609:exon5:c.G453A:p.E151E, GLI1:uc021qzi.1:exon5:c.G453A:p.E151E,GLI1:uc009zpq.3:exon4:c.G192A:p.E64E,GLI1:uc001snx.3:exon6:c.G576A:p.E192E, UNKNOWN Het;G>A 921;47|41 Het;G>A 583;29|30 Hom;G>A 1598;0|57 N N - 12 57859932 57859932 G A snp intronic GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs2292657 0.381989 0 0 1 0 0 intronic intronic intronic GLI1 GLI1 ENSG00000111087 Na Na Na Na Na Na Het;G>A 911;36|33 Het;G>A 553;28|22 Hom;G>A 1772;0|58 N N - 12 57861484 57861484 A G snp intronic GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs10783828 0.569688 0 0 1 0 0 intronic intronic intronic GLI1 GLI1 ENSG00000111087 Na Na Na Na Na Na Het;A>G 105;5|4 Het;A>G 73;3|3 Hom;A>G 153;0|5 N N - 12 57865321 57865321 G A snp nonsynonymous SNV G2675A G892D aliphatic,neutral polar,hydrophilic,charged(-) GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs2228224 0.364018 0.4982 0.5027 0.08 1 13 exonic exonic exonic GLI1 GLI1 ENSG00000111087 nonsynonymous SNV nonsynonymous SNV unknown GLI1:NM_005269:exon12:c.G2798A:p.G933D,GLI1:NM_001160045:exon10:c.G2414A:p.G805D,GLI1:NM_001167609:exon11:c.G2675A:p.G892D, GLI1:uc021qzi.1:exon11:c.G2675A:p.G892D,GLI1:uc009zpq.3:exon10:c.G2414A:p.G805D,GLI1:uc001snx.3:exon12:c.G2798A:p.G933D, UNKNOWN Het;G>A 901;45|41 Het;G>A 480;51|24 Hom;G>A 2313;0|83 N N - 12 57865821 57865821 G C snp nonsynonymous SNV G3175C E1059Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral GLI1 Gli1 ENSG00000111087 GLI family zinc finger 1 chr12:57853918-57866045 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Carcinoma, Basal Cell|Skin Neoplasms; ventricular septal defect; Inflammation|Inflammatory Bowel Diseases; Chronic renal failure|Kidney Failure, Chronic Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0001649;osteoblast differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007418;ventral midline development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;TAS|GO:0009611;response to wounding;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045667;regulation of osteoblast differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045880;positive regulation of smoothened signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048546;digestive tract morphogenesis;TAS|GO:0060032;notochord regression;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI1 https://www.uniprot.org/uniprot/P08151 https://hpo.jax.org/app/browse/search?q=GLI1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165220 http://www.informatics.jax.org/searchtool/Search.do?query=GLI1&submit=Quick%0D%4028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI1 rs2228226 0.586262 0.7118 0.6061 0.23 3 13 exonic exonic exonic GLI1 GLI1 ENSG00000111087 nonsynonymous SNV nonsynonymous SNV unknown GLI1:NM_005269:exon12:c.G3298C:p.E1100Q,GLI1:NM_001160045:exon10:c.G2914C:p.E972Q,GLI1:NM_001167609:exon11:c.G3175C:p.E1059Q, GLI1:uc021qzi.1:exon11:c.G3175C:p.E1059Q,GLI1:uc009zpq.3:exon10:c.G2914C:p.E972Q,GLI1:uc001snx.3:exon12:c.G3298C:p.E1100Q, UNKNOWN Het;G>C 1221;66|44 Het;G>C 962;50|39 Hom;G>C 3337;0|122 N N - 12 57869447 57869447 T C snp intronic ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs2277318 0.570887 0.6955 0.6006 1 0 0 intronic intronic intronic ARHGAP9 ARHGAP9 ENSG00000123329 Na Na Na Na Na Na Het;T>C 1077;38|42 Het;T>C 803;30|34 Hom;T>C 1774;0|60 N N - 12 57869476 57869476 G A snp intronic ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs2277317 0.588059 0 0 1 0 0 intronic intronic intronic ARHGAP9 ARHGAP9 ENSG00000123329 Na Na Na Na Na Na Het;G>A 1332;27|36 Het;G>A 1204;31|34 Hom;G>A 2160;0|53 N N - 12 57869486 57869486 A G snp intronic ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs2277316 0.588458 0 0 1 0 0 intronic intronic intronic ARHGAP9 ARHGAP9 ENSG00000123329 Na Na Na Na Na Na Het;A>G 1268;29|35 Het;A>G 1204;28|31 Hom;A>G 1983;0|47 N N - 12 57869530 57869531 CA C indel intronic ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs3216740 0.552915 0.6876 0.6109 1 0 0 intronic intronic intronic ARHGAP9 ARHGAP9 ENSG00000123329 Na Na Na Na Na Na Het;-A 868;31|29 Het;-A 1195;25|38 Hom;-A 1831;0|51 N N - 12 57869582 57869582 T C snp nonsynonymous SNV A355G T119A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs2277315 0.590655 0.7116 0.6279 0.08 1 12 intronic exonic exonic ARHGAP9 ARHGAP9 ENSG00000123329 Na nonsynonymous SNV unknown Na ARHGAP9:uc001soa.3:exon7:c.A355G:p.T119A,ARHGAP9:uc001sod.3:exon13:c.A1558G:p.T520A, UNKNOWN Het;T>C 876;44|36 Het;T>C 1042;43|44 Hom;T>C 1936;0|64 N N - 12 57870155 57870155 A C snp nonsynonymous SNV T1108G S370A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs11544238 0.370208 0.4894 0.5086 0.08 1 13 exonic exonic exonic ARHGAP9 ARHGAP9 ENSG00000123329 nonsynonymous SNV nonsynonymous SNV unknown ARHGAP9:NM_032496:exon8:c.T1108G:p.S370A,ARHGAP9:NM_001080157:exon7:c.T1108G:p.S370A,ARHGAP9:NM_001080156:exon6:c.T556G:p.S186A, ARHGAP9:uc001sob.3:exon7:c.T1108G:p.S370A,ARHGAP9:uc001soc.3:exon8:c.T1108G:p.S370A,ARHGAP9:uc001soa.3:exon5:c.T118G:p.S40A,ARHGAP9:uc001snz.3:exon6:c.T556G:p.S186A,ARHGAP9:uc001sod.3:exon11:c.T1321G:p.S441A,ARHGAP9:uc001soe.1:exon11:c.T1345G:p.S449A, UNKNOWN Het;A>C 276;7|14 Het;A>C 219;10|10 Hom;A>C 460;2|18 N N - 12 57870463 57870464 AG A indel UTR5 -56_-57delinsT ARHGAP9 Arhgap9 ENSG00000123329 Rho GTPase activating protein 9 chr12:57866038-57882597 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; coronary spastic angina Neutrophil degranulation GO:0007165;signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP9 https://www.uniprot.org/uniprot/Q9BRR9 https://www.ncbi.nlm.nih.gov/omim/?term=610576 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP9&submit=Quick%0D%5509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP9 rs10706671 0.382188 0.5262 0.5330 1 0 0 intronic UTR5 intronic ARHGAP9 ARHGAP9(uc001soa.3:c.-56_-57delinsT) ENSG00000123329 Na Na Na Na Na Na Het;-G 1688;43|50 Het;-G 1126;31|34 Hom;-G 2768;0|71 N N - 12 58024626 58024626 G C snp intronic B4GALNT1 B4galnt1 ENSG00000135454 beta-1,4-N-acetyl-galactosaminyltransferase 1 chr12:58017193-58027138 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] diabetes, type 1 ; Autoimmune Diseases Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. Glycosphingolipid metabolism GO:0001574;ganglioside biosynthetic process;IMP|GO:0005975;carbohydrate metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0019915;lipid storage;IEA|GO:0030259;lipid glycosylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA GO:0003947;(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity;TAS|GO:0008376;acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT1 https://www.uniprot.org/uniprot/Q00973 https://hpo.jax.org/app/browse/search?q=B4GALNT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601873 http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT1&submit=Quick%0D%7159ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT1 rs703832 0.524561 0 0 1 0 0 intronic intronic intronic B4GALNT1 B4GALNT1 ENSG00000135454 Na Na Na Na Na Na Het;G>C 224;8|9 Ref Hom;G>C 176;0|5 N N - 12 58960050 58960050 C T snp ncRNA_exonic LOC101927653 rs12227272 0.396565 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101927653 AK093124 ENSG00000257259 Na Na Na Na Na Na Het;C>T 1534;69|79 Ref Hom;C>T 4680;3|185 N N - 12 58960165 58960165 A G snp ncRNA_exonic LOC101927653 rs12229877 0.396765 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101927653 AK093124 ENSG00000257259 Na Na Na Na Na Na Het;A>G 697;41|31 Ref Hom;A>G 1316;0|45 N N - 12 58962959 58962959 A G snp ncRNA_intronic AK093124 rs7970104 0.288339 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927653 AK093124 ENSG00000257259 Na Na Na Na Na Na Het;A>G 1401;37|63 Ref Hom;A>G 4289;2|157 N N - 12 58964461 58964461 T G snp ncRNA_intronic AK093124 rs10783910 0.288139 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927653 AK093124 ENSG00000257259 Na Na Na Na Na Na Het;T>G 532;21|23 Ref Hom;T>G 1176;0|41 N N - 12 59010715 59010715 A G snp ncRNA_splicing LINC02388 rs1113844 0.651358 0 0 1 0 0 ncRNA_splicing ncRNA_splicing ncRNA_splicing LOC101927653(NR_120452:exon3:c.340+2T>C) AK093124(uc001sqq.1:exon3:c.340+2T>C) ENSG00000257259(ENST00000550678:exon3:c.340+2T>C) Na Na Na Na Na Na Het;A>G 951;47|38 Het;A>G 869;36|35 Hom;A>G 2247;0|72 N N - 12 62261077 62261077 G GA indel intronic FAM19A2 Fam19a2 ENSG00000198673 family with sequence similarity 19 member A2, C-C motif chemokine like chr12:62102040-62672931 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] Celiac Disease|; Tobacco Use Disorder; Insulin; Body Mass Index; Insulin Resistance; Cholesterol, LDL; Iron Mice homozygous for a knock-out allele exhibit impaired spatial learning and memory, impaired memory in novel object recognition test, increased anxiety, decreased depression-like behavior, neuronal loss and increased brain apoptosis. GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM19A2 https://www.ncbi.nlm.nih.gov/omim/?term=617496 http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A2&submit=Quick%0D%16955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A2 rs34255534 0 0.4193 0.4632 1 0 0 intronic intronic intronic FAM19A2 FAM19A2 ENSG00000198673 Na Na Na Na Na Na Het;+A 381;24|24 Ref Hom;+A 1558;2|65 N N - 12 62411401 62411401 C T snp intronic FAM19A2 Fam19a2 ENSG00000198673 family with sequence similarity 19 member A2, C-C motif chemokine like chr12:62102040-62672931 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] Celiac Disease|; Tobacco Use Disorder; Insulin; Body Mass Index; Insulin Resistance; Cholesterol, LDL; Iron Mice homozygous for a knock-out allele exhibit impaired spatial learning and memory, impaired memory in novel object recognition test, increased anxiety, decreased depression-like behavior, neuronal loss and increased brain apoptosis. GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM19A2 https://www.ncbi.nlm.nih.gov/omim/?term=617496 http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A2&submit=Quick%0D%16955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A2 rs1440723 0.242812 0 0 1 0 0 intronic intronic intronic FAM19A2 FAM19A2 ENSG00000198673 Na Na Na Na Na Na Het;C>T 97;7|4 Ref Hom;C>T 241;0|7 N N - 12 62778065 62778065 A G snp synonymous SNV A1455G P485P hydrophobic,neutral hydrophobic,neutral USP15 Usp15 ENSG00000135655 ubiquitin specific peptidase 15 chr12:62654119-62811211 This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011] Tobacco Use Disorder Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation. Ub-specific processing proteases GO:0000266;mitochondrial fission;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007283;spermatogenesis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030509;BMP signaling pathway;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;IDA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005160;transforming growth factor beta receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0042802;identical protein binding;IPI|GO:0046332;SMAD binding;IPI|GO:0061649;ubiquitinated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP15 https://www.uniprot.org/uniprot/Q9Y4E8 https://www.ncbi.nlm.nih.gov/omim/?term=604731 http://www.informatics.jax.org/searchtool/Search.do?query=USP15&submit=Quick%0D%7198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP15 rs2044846 0.560304 0.5937 0.6018 1 0 0 exonic exonic exonic USP15 USP15 ENSG00000135655 synonymous SNV synonymous SNV unknown USP15:NM_001252078:exon11:c.A1455G:p.P485P,USP15:NM_006313:exon10:c.A1368G:p.P456P, USP15:uc001src.2:exon11:c.A1455G:p.P485P,USP15:uc001srb.2:exon10:c.A1368G:p.P456P, UNKNOWN Het;A>G 1074;49|50 Ref Hom;A>G 5341;0|193 N N - 12 62861111 62861111 T C snp intronic MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs6581450 0.689497 0.6909 0.6505 1 0 0 intronic intronic intronic MON2 MON2 ENSG00000061987 Na Na Na Na Na Na Het;T>C 302;20|15 Ref Hom;T>C 988;0|37 N N - 12 62888729 62888729 C T snp intronic MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs7135893 0.684505 0 0 1 0 0 intronic intronic intronic MON2 MON2 ENSG00000061987 Na Na Na Na Na Na Het;C>T 299;18|11 Ref Hom;C>T 427;0|13 N N - 12 62892905 62892905 C G snp intronic MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs4025987 0.684704 0 0 1 0 0 intronic intronic intronic MON2 MON2 ENSG00000061987 Na Na Na Na Na Na Het;C>G 1344;69|53 Ref Hom;C>G 4654;0|155 N N - 12 62926398 62926398 G A snp synonymous SNV G1581A S527S polar,hydrophilic,neutral polar,hydrophilic,neutral MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs7957417 0.353235 0.3742 0.3464 1 0 0 exonic exonic exonic MON2 MON2 ENSG00000061987 synonymous SNV synonymous SNV unknown MON2:NM_001278469:exon12:c.G1581A:p.S527S,MON2:NM_001278470:exon12:c.G1581A:p.S527S,MON2:NM_001278471:exon12:c.G1581A:p.S527S,MON2:NM_001278472:exon13:c.G1365A:p.S455S,MON2:NM_015026:exon12:c.G1581A:p.S527S, MON2:uc001sre.3:exon12:c.G1581A:p.S527S,MON2:uc001srf.3:exon6:c.G870A:p.S290S,MON2:uc009zqj.3:exon12:c.G1581A:p.S527S,MON2:uc010ssm.2:exon12:c.G1581A:p.S527S,MON2:uc010ssn.2:exon12:c.G1581A:p.S527S,MON2:uc010ssl.2:exon13:c.G1365A:p.S455S, UNKNOWN Het;G>A 663;70|35 Ref Hom;G>A 2069;3|78 N N - 12 62928633 62928633 G A snp nonsynonymous SNV G1642A A548T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs10219555 0.347444 0.3662 0.3442 0.31 4 13 exonic exonic exonic MON2 MON2 ENSG00000061987 nonsynonymous SNV nonsynonymous SNV unknown MON2:NM_001278469:exon13:c.G1642A:p.A548T,MON2:NM_001278470:exon13:c.G1642A:p.A548T,MON2:NM_001278471:exon13:c.G1642A:p.A548T,MON2:NM_001278472:exon14:c.G1426A:p.A476T,MON2:NM_015026:exon13:c.G1642A:p.A548T, MON2:uc001sre.3:exon13:c.G1642A:p.A548T,MON2:uc001srf.3:exon7:c.G931A:p.A311T,MON2:uc009zqj.3:exon13:c.G1642A:p.A548T,MON2:uc010ssm.2:exon13:c.G1642A:p.A548T,MON2:uc010ssn.2:exon13:c.G1642A:p.A548T,MON2:uc010ssl.2:exon14:c.G1426A:p.A476T, UNKNOWN Het;G>A 1597;118|83 Ref Hom;G>A 4838;0|182 N N - 12 62930798 62930798 C T snp intronic MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs7134302 0.354832 0 0 1 0 0 intronic intronic intronic MON2 MON2 ENSG00000061987 Na Na Na Na Na Na Het;C>T 33;4|2 Ref Hom;C>T 421;0|12 N N - 12 62931846 62931851 ATTTGT A indel intronic MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs10554980 0.354832 0.3568 0.3867 1 0 0 intronic intronic intronic MON2 MON2 ENSG00000061987 Na Na Na Na Na Na Het;-TTTGT 1825;39|49 Ref Hom;-TTTGT 2287;0|55 N N - 12 62972210 62972210 G GT indel intronic MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs397691974 0.390974 0.3660 0.4155 1 0 0 intronic intronic intronic MON2 MON2 ENSG00000061987 Na Na Na Na Na Na Het;+T 253;4|15 Het;+T 139;19|10 Hom;+T 602;4|30 N N - 12 62986620 62986620 G A snp UTR3 *91G>A MON2 Mon2 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking chr12:62860597-62991363 GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0015031;protein transport;IEA GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON2 https://www.uniprot.org/uniprot/Q7Z3U7 https://www.ncbi.nlm.nih.gov/omim/?term=616822 http://www.informatics.jax.org/searchtool/Search.do?query=MON2&submit=Quick%0D%1082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON2 rs12357 0.380391 0 0 1 0 0 UTR3 UTR3 UTR3 MON2(NM_015026:c.*91G>A,NM_001278472:c.*91G>A,NM_001278471:c.*91G>A,NM_001278470:c.*91G>A,NM_001278469:c.*278G>A) MON2(uc001sre.3:c.*91G>A,uc009zqj.3:c.*278G>A,uc010ssl.2:c.*91G>A,uc010ssm.2:c.*91G>A,uc010ssn.2:c.*91G>A,uc001srf.3:c.*91G>A,uc001srg.3:c.*91G>A) ENSG00000061987(ENST00000393630:c.*91G>A,ENST00000393632:c.*91G>A,ENST00000546600:c.*278G>A,ENST00000393629:c.*91G>A,ENST00000552738:c.*91G>A,ENST00000547095:c.*5191G>A,ENST00000551397:c.*91G>A) Na Na Na Na Na Na Het;G>A 301;5|11 Ref Hom;G>A 304;0|10 N N - 12 62995984 62995984 C T snp ncRNA_exonic LINC01465 rs10877885 0.346446 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01465 C12orf61(uc001sri.1:c.*739G>A) ENSG00000221949(ENST00000408887:c.*739G>A) Na Na Na Na Na Na Het;C>T 490;15|16 Ref Hom;C>T 678;0|21 N N - 12 62996061 62996061 G A snp ncRNA_exonic LINC01465 rs10877886 0.344649 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01465 C12orf61(uc001sri.1:c.*662C>T) ENSG00000221949(ENST00000408887:c.*662C>T) Na Na Na Na Na Na Het;G>A 654;36|27 Ref Hom;G>A 1351;2|47 N N - 12 62997180 62997180 T C snp ncRNA_exonic LINC01465 rs10877887 0.397963 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_intronic LINC01465 C12orf61(uc001sri.1:c.-62A>G) ENSG00000257354 Na Na Na Na Na Na Het;T>C 904;23|36 Het;T>C 581;18|25 Hom;T>C 1324;0|50 N N - 12 63149213 63149213 C T snp ncRNA_exonic GAPDHP44 rs2029720 0.618411 0 0 1 0 0 intronic intronic ncRNA_exonic PPM1H PPM1H ENSG00000213352 Na Na Na Na Na Na Het;C>T 115;3|5 Ref Hom;C>T 484;0|17 N N - 12 64668659 64668659 G T snp ncRNA_intronic BC042855 rs6581534 0.294529 0.1979 0.2565 1 0 0 intronic ncRNA_intronic ncRNA_intronic C12orf56 BC042855 ENSG00000243024 Na Na Na Na Na Na Het;G>T 296;14|16 Ref Hom;G>T 632;0|24 N N - 12 64678416 64678416 G A snp ncRNA_intronic BC042855 rs12581905 0.291933 0.1941 0.3127 1 0 0 intronic ncRNA_intronic ncRNA_intronic C12orf56 BC042855 ENSG00000243024 Na Na Na Na Na Na Het;G>A 398;20|19 Ref Hom;G>A 983;0|38 N N - 12 64732294 64732294 A G snp ncRNA_exonic AC135279.2 rs11609829 0.273562 0 0 1 0 0 intronic ncRNA_intronic ncRNA_exonic C12orf56 BC042855 ENSG00000256293 Na Na Na Na Na Na Het;A>G 331;12|16 Het;A>G 137;15|8 Hom;A>G 489;0|18 N N - 12 64757513 64757513 T C snp ncRNA_intronic BC042855 rs10878163 0.467652 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic C12orf56 BC042855 ENSG00000243024 Na Na Na Na Na Na Het;T>C 613;27|27 Ref Hom;T>C 1030;0|36 N N - 12 64803798 64803798 A C snp UTR5 -18A>C XPOT Xpot ENSG00000184575 exportin for tRNA chr12:64798130-64844907 This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008] Tobacco Use Disorder tRNA processing in the nucleus GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0071528;tRNA re-export from nucleus;IBA GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016363;nuclear matrix;IBA GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0008536;Ran GTPase binding;IBA|GO:0015932;nucleobase-containing compound transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/XPOT https://www.ncbi.nlm.nih.gov/omim/?term=603180 http://www.informatics.jax.org/searchtool/Search.do?query=XPOT&submit=Quick%0D%15237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XPOT rs11175383 0.302117 0.3057 0.2903 1 0 0 UTR5 UTR5 UTR5 XPOT(NM_007235:c.-18A>C) XPOT(uc009zqm.2:c.-8858A>C,uc001ssb.3:c.-18A>C) ENSG00000184575(ENST00000332707:c.-18A>C,ENST00000540203:c.-18A>C,ENST00000400935:c.-18A>C) Na Na Na Na Na Na Het;A>C 702;40|28 Ref Hom;A>C 1048;0|41 N N - 12 64818598 64818598 G A snp intronic XPOT Xpot ENSG00000184575 exportin for tRNA chr12:64798130-64844907 This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008] Tobacco Use Disorder tRNA processing in the nucleus GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0071528;tRNA re-export from nucleus;IBA GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016363;nuclear matrix;IBA GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0008536;Ran GTPase binding;IBA|GO:0015932;nucleobase-containing compound transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/XPOT https://www.ncbi.nlm.nih.gov/omim/?term=603180 http://www.informatics.jax.org/searchtool/Search.do?query=XPOT&submit=Quick%0D%15237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XPOT rs61931552 0.067492 0 0 1 0 0 intronic intronic intronic XPOT XPOT ENSG00000184575 Na Na Na Na Na Na Het;G>A 128;13|7 Ref Hom;G>A 211;0|7 N N - 12 64827444 64827444 T C snp intronic XPOT Xpot ENSG00000184575 exportin for tRNA chr12:64798130-64844907 This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008] Tobacco Use Disorder tRNA processing in the nucleus GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0071528;tRNA re-export from nucleus;IBA GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016363;nuclear matrix;IBA GO:0000049;tRNA binding;IDA|GO:0003723;RNA binding;IEA|GO:0008536;Ran GTPase binding;IBA|GO:0015932;nucleobase-containing compound transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/XPOT https://www.ncbi.nlm.nih.gov/omim/?term=603180 http://www.informatics.jax.org/searchtool/Search.do?query=XPOT&submit=Quick%0D%15237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XPOT rs61931555 0.0650958 0 0 1 0 0 intronic intronic intronic XPOT XPOT ENSG00000184575 Na Na Na Na Na Na Het;T>C 479;35|22 Ref Hom;T>C 1381;0|45 N N - 12 64875899 64875899 A G snp intronic TBK1 Tbk1 ENSG00000183735 TANK binding kinase 1 chr12:64845660-64895888 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010] Dengue Hemorrhagic Fever; Hepatitis C|Remission, Spontaneous; Coronary Artery Disease Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon GO:0002218;activation of innate immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0009615;response to virus;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0016032;viral process;IEA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032606;type I interferon production;TAS|GO:0032727;positive regulation of interferon-alpha production;IDA|GO:0032728;positive regulation of interferon-beta production;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;NAS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0044565;dendritic cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051607;defense response to virus;IEA|GO:1901214;regulation of neuron death;NAS|GO:1904417;positive regulation of xenophagy;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TBK1 https://hpo.jax.org/app/browse/search?q=TBK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604834 http://www.informatics.jax.org/searchtool/Search.do?query=TBK1&submit=Quick%0D%15060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBK1 rs61933202 0.067492 0 0 1 0 0 intronic intronic intronic TBK1 TBK1 ENSG00000183735 Na Na Na Na Na Na Het;A>G 191;6|6 Ref Hom;A>G 669;0|19 N N - 12 64879436 64879436 G T snp intronic TBK1 Tbk1 ENSG00000183735 TANK binding kinase 1 chr12:64845660-64895888 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010] Dengue Hemorrhagic Fever; Hepatitis C|Remission, Spontaneous; Coronary Artery Disease Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon GO:0002218;activation of innate immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0009615;response to virus;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0016032;viral process;IEA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032606;type I interferon production;TAS|GO:0032727;positive regulation of interferon-alpha production;IDA|GO:0032728;positive regulation of interferon-beta production;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;NAS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0044565;dendritic cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051607;defense response to virus;IEA|GO:1901214;regulation of neuron death;NAS|GO:1904417;positive regulation of xenophagy;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TBK1 https://hpo.jax.org/app/browse/search?q=TBK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604834 http://www.informatics.jax.org/searchtool/Search.do?query=TBK1&submit=Quick%0D%15060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBK1 rs41292023 0.129992 0 0 1 0 0 intronic intronic intronic TBK1 TBK1 ENSG00000183735 Na Na Na Na Na Na Het;G>T 205;3|7 Ref Hom;G>T 312;0|9 N N - 12 64891392 64891392 G GGTT indel intronic TBK1 Tbk1 ENSG00000183735 TANK binding kinase 1 chr12:64845660-64895888 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010] Dengue Hemorrhagic Fever; Hepatitis C|Remission, Spontaneous; Coronary Artery Disease Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon GO:0002218;activation of innate immune response;IEA|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0009615;response to virus;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0016032;viral process;IEA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032606;type I interferon production;TAS|GO:0032727;positive regulation of interferon-alpha production;IDA|GO:0032728;positive regulation of interferon-beta production;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;NAS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0044565;dendritic cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051607;defense response to virus;IEA|GO:1901214;regulation of neuron death;NAS|GO:1904417;positive regulation of xenophagy;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TBK1 https://hpo.jax.org/app/browse/search?q=TBK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604834 http://www.informatics.jax.org/searchtool/Search.do?query=TBK1&submit=Quick%0D%15060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBK1 rs146676333 0 0.1480 0.1320 1 0 0 intronic intronic intronic TBK1 TBK1 ENSG00000183735 Na Na Na Na Na Na Het;+GTT 531;15|14 Ref Hom;+GTT 1889;0|39 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 65082330 65082330 G A snp intronic RASSF3 Rassf3 ENSG00000153179 Ras association domain family member 3 chr12:65004293-65091347 The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003] Heart Rate; Bone Density; Coronary Disease GO:0007165;signal transduction;IEA|GO:0042981;regulation of apoptotic process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RASSF3 https://www.uniprot.org/uniprot/Q86WH2 https://www.ncbi.nlm.nih.gov/omim/?term=607019 http://www.informatics.jax.org/searchtool/Search.do?query=RASSF3&submit=Quick%0D%9637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASSF3 rs508792 0.335064 0 0 1 0 0 intronic intronic intronic RASSF3 RASSF3 ENSG00000153179 Na Na Na Na Na Na Het;G>A 295;14|10 Het;G>A 195;13|9 Hom;G>A 629;0|21 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 65294527 65294527 G C snp ncRNA_intronic FLJ41278 rs12231352 0.238818 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FLJ41278 FLJ41278 ENSG00000255693 Na Na Na Na Na Na Het;G>C 380;22|17 Ref Hom;G>C 1015;2|35 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 65331355 65331355 T C snp ncRNA_intronic FLJ41278 rs466104 0.515375 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FLJ41278 FLJ41278 ENSG00000248995,ENSG00000255693 Na Na Na Na Na Na Het;T>C 209;16|10 Ref Hom;T>C 1097;0|37 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 65369745 65369745 T C snp ncRNA_exonic FLJ41278 rs7960921 0.23123 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FLJ41278 FLJ41278 ENSG00000255693 Na Na Na Na Na Na Het;T>C 1632;81|70 Het;T>C 1581;79|70 Hom;T>C 4423;0|156 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 66546100 66546100 A G snp nonsynonymous SNV T263C I88T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral TMBIM4 Tmbim4 ENSG00000155957 transmembrane BAX inhibitor motif containing 4 chr12:66517709-66563852 GO:0006915;apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0050848;regulation of calcium-mediated signaling;IDA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMBIM4 https://www.uniprot.org/uniprot/Q9HC24 https://www.ncbi.nlm.nih.gov/omim/?term=616874 http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM4&submit=Quick%0D%9918ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM4 rs8793 0.470447 0.3817 0.4472 0.08 1 13 exonic exonic exonic TMBIM4 TMBIM4 ENSG00000155957,ENSG00000228144 nonsynonymous SNV nonsynonymous SNV unknown TMBIM4:NM_001282606:exon4:c.T404C:p.I135T,TMBIM4:NM_001282609:exon3:c.T263C:p.I88T,TMBIM4:NM_001282610:exon3:c.T170C:p.I57T,TMBIM4:NM_016056:exon3:c.T263C:p.I88T, TMBIM4:uc001stc.3:exon3:c.T263C:p.I88T,TMBIM4:uc001std.3:exon3:c.T170C:p.I57T,TMBIM4:uc001stf.3:exon3:c.T263C:p.I88T,TMBIM4:uc009zqs.3:exon3:c.T263C:p.I88T,TMBIM4:uc009zqr.3:exon4:c.T404C:p.I135T, UNKNOWN Het;A>G 578;36|28 Het;A>G 932;19|42 Hom;A>G 2382;0|86 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 66725202 66725202 C T snp nonsynonymous SNV C2939T T980I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral HELB Helb ENSG00000127311 DNA helicase B chr12:66696325-66737423 This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks. GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HELB https://www.uniprot.org/uniprot/Q8NG08 https://www.ncbi.nlm.nih.gov/omim/?term=614539 http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB rs1168312 0.173722 0.1595 0.2101 0.23 3 13 exonic exonic exonic HELB HELB ENSG00000127311 nonsynonymous SNV nonsynonymous SNV unknown HELB:NM_033647:exon12:c.C2939T:p.T980I, HELB:uc001sti.3:exon12:c.C2939T:p.T980I, UNKNOWN Het;C>T 2122;132|97 Ref Hom;C>T 5667;2|214 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 68325940 68325940 T C snp ncRNA_intronic LINC01479 rs4913374 0.728435 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01479 BC035381(dist=202719),AK124066(dist=57285) ENSG00000255772 Na Na Na Na Na Na Het;T>C 131;9|5 Het;T>C 210;3|7 Hom;T>C 314;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 68383465 68383465 A G snp ncRNA_intronic AK124066 rs10784664 0.410942 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic IFNG-AS1 AK124066 ENSG00000255733 Na Na Na Na Na Na Het;A>G 265;19|9 Ref Hom;A>G 596;0|19 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 68399871 68399871 G A snp ncRNA_exonic IFNG-AS1 rs10878724 0.341853 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic IFNG-AS1 AK124066 ENSG00000255733 Na Na Na Na Na Na Het;G>A 649;51|30 Ref Hom;G>A 2054;0|79 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 68775747 68775747 A T snp ncRNA_intronic LINC02384 rs11177198 0.227636 0 0 1 0 0 intergenic intergenic ncRNA_intronic MDM1(dist=49586),LOC100507195(dist=49875) MDM1(dist=49586),RAP1B(dist=228872) ENSG00000251301 Na Na Na Na Na Na Het;A>T 201;17|8 Ref Hom;A>T 1433;0|47 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 68947314 68947314 G A snp ncRNA_exonic RPSAP12 rs71452388 0.0203674 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC100507195(dist=102050),RAP1B(dist=57305) MDM1(dist=221153),RAP1B(dist=57305) ENSG00000240087 Na Na Na Na Na Na Het;G>A 970;34|34 Ref Hom;G>A 828;0|28 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69021111 69021111 G GC indel ncRNA_exonic SNORA70G rs199774560 0.0103834 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SNORA70G SNORA70G ENSG00000206650 Na Na Na Na Na Na Het;+C 471;14|20 Ref Hom;+C 987;0|35 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69080616 69080616 A G snp ncRNA_exonic LOC100507250 rs12831591 0.105431 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100507250 LOC100507250 ENSG00000247363 Na Na Na Na Na Na Het;A>G 1566;70|72 Ref Hom;A>G 3821;1|141 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69082650 69082651 CT C indel intronic NUP107 Nup107 ENSG00000111581 nucleoporin 107 chr12:69080514-69136785 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. Mitotic Prometaphase GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0008585;female gonad development;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP http://www.genecards.org/index.php?path=/Search/keyword/NUP107 https://www.uniprot.org/uniprot/P57740 https://hpo.jax.org/app/browse/search?q=NUP107&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607617 http://www.informatics.jax.org/searchtool/Search.do?query=NUP107&submit=Quick%0D%4089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP107 rs35079356 0.0307508 0 0 1 0 0 intronic intronic intronic NUP107 NUP107 ENSG00000111581 Na Na Na Na Na Na Het;-T 195;10|7 Ref Hom;-T 327;0|9 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69084272 69084272 A G snp intronic NUP107 Nup107 ENSG00000111581 nucleoporin 107 chr12:69080514-69136785 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. Mitotic Prometaphase GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0008585;female gonad development;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP http://www.genecards.org/index.php?path=/Search/keyword/NUP107 https://www.uniprot.org/uniprot/P57740 https://hpo.jax.org/app/browse/search?q=NUP107&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607617 http://www.informatics.jax.org/searchtool/Search.do?query=NUP107&submit=Quick%0D%4089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP107 rs71452399 0.0351438 0 0 1 0 0 intronic intronic intronic NUP107 NUP107 ENSG00000111581 Na Na Na Na Na Na Het;A>G 489;9|14 Ref Hom;A>G 606;0|18 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69090684 69090684 A G snp synonymous SNV A534G E178E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) NUP107 Nup107 ENSG00000111581 nucleoporin 107 chr12:69080514-69136785 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. Mitotic Prometaphase GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0008585;female gonad development;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP http://www.genecards.org/index.php?path=/Search/keyword/NUP107 https://www.uniprot.org/uniprot/P57740 https://hpo.jax.org/app/browse/search?q=NUP107&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607617 http://www.informatics.jax.org/searchtool/Search.do?query=NUP107&submit=Quick%0D%4089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP107 rs35054844 0.0307508 0.0286 0.0281 1 0 0 exonic exonic exonic NUP107 NUP107 ENSG00000111581 synonymous SNV synonymous SNV unknown NUP107:NM_020401:exon6:c.A534G:p.E178E, NUP107:uc001suf.3:exon6:c.A534G:p.E178E,NUP107:uc001sug.3:exon5:c.A75G:p.E25E,NUP107:uc010stj.2:exon6:c.A447G:p.E149E, UNKNOWN Het;A>G 1850;75|82 Ref Hom;A>G 3848;0|143 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69127500 69127500 C T snp intronic NUP107 Nup107 ENSG00000111581 nucleoporin 107 chr12:69080514-69136785 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. Mitotic Prometaphase GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0008585;female gonad development;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP http://www.genecards.org/index.php?path=/Search/keyword/NUP107 https://www.uniprot.org/uniprot/P57740 https://hpo.jax.org/app/browse/search?q=NUP107&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607617 http://www.informatics.jax.org/searchtool/Search.do?query=NUP107&submit=Quick%0D%4089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP107 rs35315224 0.0351438 0 0 1 0 0 intronic intronic intronic NUP107 NUP107 ENSG00000111581 Na Na Na Na Na Na Het;C>T 334;6|14 Ref Hom;C>T 430;0|14 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69202580 69202580 T G snp intronic MDM2 Mdm2 ENSG00000135679 MDM2 proto-oncogene chr12:69201956-69239214 This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013] Helicobacter Infections|Stomach Neoplasms; liver cancer; pregnancy loss; DNA Damage|Lung Neoplasms; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; stomach cancer; somatic P53 mutations in hepatocellular carcinoma; Lymphoma, Large B-Cell, Diffuse; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; bladder cancer; pancreatic adenocarcinoma; Carcinoma|Choroid Plexus Neoplasms|Choroid Plexus Papilloma|Papilloma, Choroid Plexus; Breast Neoplasms|Cell Transformation, Neoplastic|Ovarian Neoplasms; Skin Neoplasms; bronchodilator response; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Liver Neoplasms; esophageal cancer ; Carcinoma, Hepatocellular|Hepatitis, Viral, Human|Liver Neoplasms; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; psoriasis, psoriatic arthritis, and SAPHO syndrome; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Colorectal Neoplasms|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; esophageal cancer; Neuroblastoma; Nasopharyngeal Neoplasms; Breast Neoplasms|; brain cancer; endometrial cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Cell Transformation, Viral|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Papillomavirus Infections|Squamous cell carcinoma|Uterine Cervical Neoplasms; Brain Neoplasms|Glioblastoma; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Myeloid, Acute; Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell; Carcinoma, Squamous Cell|Cocarcinogenesis|Mouth Neoplasms|Papillomavirus Infections|Squamous cell carcinoma; Adenocarcinoma|Pancreatic Neoplasms; Melanoma|Skin Neoplasms; Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms; melanoma|Skin Neoplasms; breast cancer; ovarian cancer; Chronic Lymphocytic Leukemia|Leukemia, Experimental|Leukemia, Lymphocytic, Chronic, B-Cell; restenosis; Li-Fraumeni Syndrome; Arthritis, Rheumatoid|; Retinal Neoplasms|Retinoblastoma; ovarian cancer; prostate cancer; Abortion, Spontaneous; Crohn Disease|Crohn's disease; fertility; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; lymphoma; breast cancer ; Neoplasm Metastasis|Neuroblastoma; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; esophageal adenocarcinoma; nasopharyngeal cancer; Leukemia, Myeloid|Neoplasms, Second Primary; lung cancer; Carcinoma, Squamous Cell|Fibrosis|Mouth Neoplasms; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Leukemia; Neoplasms; Anoxia|Neuroblastoma; Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; benzene haematotoxicity; lung cancer ; skin cancer, non-melanoma; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; Neoplasm Recurrence, Local|Prostatic Neoplasms; null; Osteosarcoma; Leukemia, Lymphocytic, Chronic, B-Cell; Endometrial Neoplasms; Stomach Neoplasms; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Leukemia, Myeloid|Myeloid Leukemia; epithelial ovarian cancer ; Occupational Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; breast cancer; Leukoplakia|Mouth Neoplasms; adipose-tissue tumors; Critical Illness|Sepsis; Lupus Erythematosus, Systemic|Lupus Nephritis; Carcinoma|Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Wegener Granulomatosis; Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Mammary Neoplasms|Neoplasm of lung ; chronic obstructive pulmonary disease; Carcinoma|Prostatic Neoplasms; ovarian cancer peritoneal cancer; Brain Neoplasms|Oligodendroglioma Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for a null allele exhibit prenatal lethality. Mice homozygous for one knock-in allele exhibit embryonic lethality while mice homozygous for a different knock-in allele exhibit alters cell cycle regulation. Regulation of RUNX3 expression and activity GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001568;blood vessel development;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002027;regulation of heart rate;IEA|GO:0003170;heart valve development;IEA|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0003283;atrial septum development;IEA|GO:0006461;protein complex assembly;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007089;traversing start control point of mitotic cell cycle;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0009636;response to toxic substance;IEA|GO:0010039;response to iron ion;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010955;negative regulation of protein processing;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0016925;protein sumoylation;IEA|GO:0018205;peptidyl-lysine modification;IMP|GO:0031648;protein destabilization;IDA|GO:0032026;response to magnesium ion;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0034504;protein localization to nucleus;IDA|GO:0036369;transcription factor catabolic process;TAS|GO:0042176;regulation of protein catabolic process;IDA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043278;response to morphine;IEA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045184;establishment of protein localization;IDA|GO:0045472;response to ether;IEA|GO:0045787;positive regulation of cell cycle;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0046677;response to antibiotic;IEP|GO:0046827;positive regulation of protein export from nucleus;IEA|GO:0048545;response to steroid hormone;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IMP|GO:0051865;protein autoubiquitination;IMP|GO:0060411;cardiac septum morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071157;negative regulation of cell cycle arrest;IDA|GO:0071236;cellular response to antibiotic;IEA|GO:0071301;cellular response to vitamin B1;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071391;cellular response to estrogen stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEP|GO:0071480;cellular response to gamma radiation;IDA|GO:0071494;cellular response to UV-C;IEA|GO:0072717;cellular response to actinomycin D;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901797;negative regulation of signal transduction by p53 class mediator;IDA|GO:1902254;negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:1904404;response to formaldehyde;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:1990000;amyloid fibril formation;IMP|GO:1990785;response to water-immersion restraint stress;IEA GO:0005634;nucleus;IMP|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IMP|GO:0005737;cytoplasm;IMP|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016604;nuclear body;IDA|GO:0030666;endocytic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA GO:0002039;p53 binding;IPI|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;IDA|GO:0019789;SUMO transferase activity;EXP|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042975;peroxisome proliferator activated receptor binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0061630;ubiquitin protein ligase activity;TAS|GO:0061663;NEDD8 ligase activity;IMP|GO:0097110;scaffold protein binding;IEA|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MDM2 https://www.uniprot.org/uniprot/Q00987 https://hpo.jax.org/app/browse/search?q=MDM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164785 http://www.informatics.jax.org/searchtool/Search.do?query=MDM2&submit=Quick%0D%7201ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MDM2 rs2279744 0.366613 0 0 1 0 0 intronic intronic intronic MDM2 MDM2 ENSG00000135679 Na Na Na Na Na Na Het;T>G 963;50|45 Ref Hom;T>G 2277;0|80 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69351435 69351435 C T snp ncRNA_exonic PRELID2P1 rs4913302 0.345248 0 0 1 0 0 intronic intronic ncRNA_exonic CPM CPM ENSG00000257336 Na Na Na Na Na Na Het;C>T 206;2|10 Het;C>T 70;3|3 Hom;C>T 265;0|9 N N - 12 6959095 6959096 AC A indel intronic CDCA3 Cdca3 ENSG00000111665 cell division cycle associated 3 chr12:6953957-6961230 Type 2 diabetes GO:0007049;cell cycle;IEA|GO:0008150;biological_process;ND|GO:0016567;protein ubiquitination;IEA|GO:0051301;cell division;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005913;cell-cell adherens junction;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDCA3 https://www.uniprot.org/uniprot/Q99618 https://www.ncbi.nlm.nih.gov/omim/?term=607749 http://www.informatics.jax.org/searchtool/Search.do?query=CDCA3&submit=Quick%0D%4103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCA3 rs367917525 0.319688 0 0 1 0 0 intronic intronic intronic CDCA3 CDCA3 ENSG00000111665 Na Na Na Na Na Na Het;-C 280;9|11 Het;-C 437;2|15 Hom;-C 552;0|17 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69742188 69742188 C T snp UTR5 -1C>T LYZ Lyz2 ENSG00000090382 lysozyme chr12:69742121-69748014 This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; response to diuretic therapy; height; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth This locus controls heat stability of lysozyme P. The d allele determines low heat stability in C3H/He; the c allele determines high heat stability in CASA. Another variation, measured as electrophoretic mobility, is seen between BALB/c and M. spretus. Amyloid fiber formation GO:0001895;retina homeostasis;IEP|GO:0006954;inflammatory response;TAS|GO:0008152;metabolic process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019835;cytolysis;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS GO:0003796;lysozyme activity;TAS|GO:0003824;catalytic activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LYZ https://www.uniprot.org/uniprot/P61626 https://hpo.jax.org/app/browse/search?q=LYZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=153450 http://www.informatics.jax.org/searchtool/Search.do?query=LYZ&submit=Quick%0D%2097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZ rs513342 0.0533147 0.0766 0.0405 1 0 0 UTR5 UTR5 UTR5 LYZ(NM_000239:c.-1C>T) LYZ(uc001suw.2:c.-1C>T) ENSG00000090382(ENST00000261267:c.-1C>T,ENST00000549690:c.-1C>T,ENST00000548839:c.-1C>T) Na Na Na Na Na Na Het;C>T 1103;46|47 Ref Hom;C>T 2852;0|104 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69744104 69744104 C T snp UTR3 *38C>T LYZ Lyz2 ENSG00000090382 lysozyme chr12:69742121-69748014 This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; response to diuretic therapy; height; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth This locus controls heat stability of lysozyme P. The d allele determines low heat stability in C3H/He; the c allele determines high heat stability in CASA. Another variation, measured as electrophoretic mobility, is seen between BALB/c and M. spretus. Amyloid fiber formation GO:0001895;retina homeostasis;IEP|GO:0006954;inflammatory response;TAS|GO:0008152;metabolic process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019835;cytolysis;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS GO:0003796;lysozyme activity;TAS|GO:0003824;catalytic activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LYZ https://www.uniprot.org/uniprot/P61626 https://hpo.jax.org/app/browse/search?q=LYZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=153450 http://www.informatics.jax.org/searchtool/Search.do?query=LYZ&submit=Quick%0D%2097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZ rs686407 0.307508 0.4020 0.2256 1 0 0 intronic intronic UTR3 LYZ LYZ ENSG00000090382(ENST00000548839:c.*38C>T) Na Na Na Na Na Na Het;C>T 649;29|24 Ref Hom;C>T 2066;0|69 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69745868 69745868 T C snp intronic LYZ Lyz2 ENSG00000090382 lysozyme chr12:69742121-69748014 This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; response to diuretic therapy; height; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth This locus controls heat stability of lysozyme P. The d allele determines low heat stability in C3H/He; the c allele determines high heat stability in CASA. Another variation, measured as electrophoretic mobility, is seen between BALB/c and M. spretus. Amyloid fiber formation GO:0001895;retina homeostasis;IEP|GO:0006954;inflammatory response;TAS|GO:0008152;metabolic process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019835;cytolysis;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS GO:0003796;lysozyme activity;TAS|GO:0003824;catalytic activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LYZ https://www.uniprot.org/uniprot/P61626 https://hpo.jax.org/app/browse/search?q=LYZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=153450 http://www.informatics.jax.org/searchtool/Search.do?query=LYZ&submit=Quick%0D%2097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZ rs596919 0.102037 0 0 1 0 0 intronic intronic intronic LYZ LYZ ENSG00000090382 Na Na Na Na Na Na Het;T>C 263;8|8 Ref Hom;T>C 67;0|3 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69753830 69753830 G A snp intronic YEATS4 Yeats4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 rs623853 0.434505 0.4635 0.4717 1 0 0 intronic intronic intronic YEATS4 YEATS4 ENSG00000127337 Na Na Na Na Na Na Het;G>A 350;13|15 Het;G>A 535;13|27 Hom;G>A 1066;0|38 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69753847 69753847 T C snp intronic YEATS4 Yeats4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 rs554591 0.434904 0.4670 0.4715 1 0 0 intronic intronic intronic YEATS4 YEATS4 ENSG00000127337 Na Na Na Na Na Na Het;T>C 334;10|15 Het;T>C 401;9|18 Hom;T>C 909;0|32 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69759551 69759552 AT A indel intronic YEATS4 Yeats4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 rs11286051 0.638179 0 0.6366 1 0 0 intronic intronic intronic YEATS4 YEATS4 ENSG00000127337 Na Na Na Na Na Na Het;-T 1533;71|74 Het;-T 1329;57|64 Hom;-T 3271;0|122 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69759782 69759782 G T snp intronic YEATS4 Yeats4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 rs315128 0.0491214 0 0 1 0 0 intronic intronic intronic YEATS4 YEATS4 ENSG00000127337 Na Na Na Na Na Na Het;G>T 107;6|5 Ref Hom;G>T 403;0|11 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69764850 69764850 A T snp intronic YEATS4 Yeats4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 rs315138 0.436102 0 0 1 0 0 intronic intronic intronic YEATS4 YEATS4 ENSG00000127337 Na Na Na Na Na Na Het;A>T 387;14|13 Het;A>T 491;12|20 Hom;A>T 1064;0|35 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69783937 69783937 T C snp synonymous SNV T525C L175L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral YEATS4 Yeats4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 rs315121 0.0491214 0.0692 0.0421 1 0 0 exonic exonic exonic YEATS4 YEATS4 ENSG00000127337 synonymous SNV synonymous SNV unknown YEATS4:NM_006530:exon7:c.T525C:p.L175L,YEATS4:NM_001300950:exon5:c.T363C:p.L121L, YEATS4:uc001sux.3:exon7:c.T525C:p.L175L, UNKNOWN Het;T>C 284;8|13 Ref Hom;T>C 884;0|35 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69979127 69979127 G A snp UTR5 -175G>A CCT2 Cct2 ENSG00000166226 chaperonin containing TCP1 subunit 2 chr12:69979114-69995350 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; height; Creatinine; hypertension Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IMP|GO:0051086;chaperone mediated protein folding independent of cofactor;IMP|GO:0051131;chaperone-mediated protein complex assembly;IMP|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090666;scaRNA localization to Cajal body;IMP|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;IDA|GO:0005874;microtubule;IDA|GO:0031012;extracellular matrix;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044183;protein binding involved in protein folding;IPI|GO:0051082;unfolded protein binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CCT2 https://www.ncbi.nlm.nih.gov/omim/?term=605139 http://www.informatics.jax.org/searchtool/Search.do?query=CCT2&submit=Quick%0D%11734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT2 rs17106752 0.16274 0 0 1 0 0 upstream;downstream upstream;downstream UTR5 CCT2,MIR3913-1;MIR3913-2 CCT2,MIR3913-1;MIR3913-2 ENSG00000166226(ENST00000299300:c.-175G>A) Na Na Na Na Na Na Het;G>A 503;22|22 Ref Hom;G>A 762;0|27 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 69991675 69991675 T C snp intronic CCT2 Cct2 ENSG00000166226 chaperonin containing TCP1 subunit 2 chr12:69979114-69995350 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; height; Creatinine; hypertension Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IMP|GO:0051086;chaperone mediated protein folding independent of cofactor;IMP|GO:0051131;chaperone-mediated protein complex assembly;IMP|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090666;scaRNA localization to Cajal body;IMP|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;IDA|GO:0005874;microtubule;IDA|GO:0031012;extracellular matrix;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044183;protein binding involved in protein folding;IPI|GO:0051082;unfolded protein binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CCT2 https://www.ncbi.nlm.nih.gov/omim/?term=605139 http://www.informatics.jax.org/searchtool/Search.do?query=CCT2&submit=Quick%0D%11734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT2 rs35639 0.108027 0 0 1 0 0 intronic intronic intronic CCT2 CCT2 ENSG00000166226 Na Na Na Na Na Na Het;T>C 577;18|22 Ref Hom;T>C 1193;0|35 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70082903 70082903 A T snp UTR5 -10235T>A BEST3 Best3 ENSG00000127325 bestrophin 3 chr12:70037140-70093256 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] Tunica Media Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0008150;biological_process;ND|GO:0015698;inorganic anion transport;IEA|GO:0043271;negative regulation of ion transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0003674;molecular_function;ND|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BEST3 https://www.uniprot.org/uniprot/Q8N1M1 https://www.ncbi.nlm.nih.gov/omim/?term=607337 http://www.informatics.jax.org/searchtool/Search.do?query=BEST3&submit=Quick%0D%6021ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BEST3 rs775419 0.438299 0 0 1 0 0 UTR5 UTR5 UTR5 BEST3(NM_152439:c.-10235T>A) BEST3(uc001svf.3:c.-10235T>A) ENSG00000127325(ENST00000488961:c.-10235T>A) Na Na Na Na Na Na Het;A>T 617;31|27 Het;A>T 391;36|20 Hom;A>T 861;0|33 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70088085 70088087 AGT A indel intronic BEST3 Best3 ENSG00000127325 bestrophin 3 chr12:70037140-70093256 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] Tunica Media Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0008150;biological_process;ND|GO:0015698;inorganic anion transport;IEA|GO:0043271;negative regulation of ion transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0003674;molecular_function;ND|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BEST3 https://www.uniprot.org/uniprot/Q8N1M1 https://www.ncbi.nlm.nih.gov/omim/?term=607337 http://www.informatics.jax.org/searchtool/Search.do?query=BEST3&submit=Quick%0D%6021ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BEST3 rs3050191 0.271166 0 0 1 0 0 intronic intronic intronic BEST3 BEST3 ENSG00000127325 Na Na Na Na Na Na Het;-GT 779;19|22 Het;-GT 784;16|21 Hom;-GT 1691;0|40 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70091356 70091356 G T snp intronic BEST3 Best3 ENSG00000127325 bestrophin 3 chr12:70037140-70093256 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] Tunica Media Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0008150;biological_process;ND|GO:0015698;inorganic anion transport;IEA|GO:0043271;negative regulation of ion transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0003674;molecular_function;ND|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BEST3 https://www.uniprot.org/uniprot/Q8N1M1 https://www.ncbi.nlm.nih.gov/omim/?term=607337 http://www.informatics.jax.org/searchtool/Search.do?query=BEST3&submit=Quick%0D%6021ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BEST3 rs710710 0.434105 0 0 1 0 0 intronic intronic intronic BEST3 BEST3 ENSG00000127325 Na Na Na Na Na Na Het;G>T 224;8|8 Het;G>T 211;25|11 Hom;G>T 745;0|25 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70107646 70107646 T C snp ncRNA_exonic LOC101928002 rs811822 0.205671 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928002 BC042465 ENSG00000247131 Na Na Na Na Na Na Het;T>C 2042;71|90 Ref Hom;T>C 7143;5|258 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70107915 70107915 T G snp ncRNA_exonic LOC101928002 rs775453 0.205671 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928002 BC042465 ENSG00000247131 Na Na Na Na Na Na Het;T>G 1641;89|76 Ref Hom;T>G 7048;0|248 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70108166 70108166 G A snp ncRNA_exonic LOC101928002 rs710708 0.203674 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928002 BC042465 ENSG00000247131 Na Na Na Na Na Na Het;G>A 1538;72|71 Ref Hom;G>A 5164;1|193 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70108360 70108360 C T snp ncRNA_exonic LOC101928002 rs710707 0.198482 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928002 BC042465 ENSG00000247131 Na Na Na Na Na Na Het;C>T 1623;84|70 Ref Hom;C>T 6825;6|246 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70108783 70108787 TACTC T indel ncRNA_exonic LOC101928002 rs3970815 0.198482 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928002 BC042465 ENSG00000247131 Na Na Na Na Na Na Het;-ACTC 857;35|25 Ref Hom;-ACTC 4788;0|109 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70108970 70108970 A G snp ncRNA_exonic LOC101928002 rs775452 0.204273 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928002 BC042465 ENSG00000247131 Na Na Na Na Na Na Het;A>G 568;19|17 Ref Hom;A>G 954;0|25 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70133142 70133142 G C snp intronic RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs1602956 0.164936 0 0 1 0 0 intronic intronic intronic RAB3IP RAB3IP ENSG00000127328 Na Na Na Na Na Na Het;G>C 1147;28|50 Ref Hom;G>C 1276;0|41 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70195293 70195293 T G snp intronic RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs10879014 0.78774 0 0 1 0 0 intronic intronic intronic RAB3IP RAB3IP ENSG00000127328 Na Na Na Na Na Na Het;T>G 120;6|5 Ref Hom;T>G 229;0|6 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70195585 70195585 A G snp intronic RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs145460630 0.00379393 0 0 1 0 0 intronic intronic intronic RAB3IP RAB3IP ENSG00000127328,ENSG00000258052 Na Na Na Na Na Na Het;A>G 284;5|11 Ref Hom;A>G 466;0|15 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70206894 70206897 ATAG A indel intronic RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs1305051 0.214657 0 0 1 0 0 intronic intronic intronic RAB3IP RAB3IP ENSG00000127328,ENSG00000258052 Na Na Na Na Na Na Het;-TAG 332;17|10 Ref Hom;-TAG 2647;0|61 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70209121 70209123 ATC A indel intronic RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs139555957 0.164537 0.0624 0.1192 1 0 0 intronic intronic intronic RAB3IP RAB3IP ENSG00000127328,ENSG00000258052 Na Na Na Na Na Na Het;-TC 1051;14|29 Ref Hom;-TC 2076;0|54 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70211833 70211836 TGAA T indel UTR3 *2607_*2610delinsT RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs201860393 0 0 0 1 0 0 UTR3 UTR3 UTR3 RAB3IP(NM_022456:c.*2607_*2610delinsT,NM_175624:c.*2702_*2705delinsT,NM_175625:c.*2702_*2705delinsT,NM_175623:c.*2607_*2610delinsT,NM_001278402:c.*2607_*2610delinsT,NM_001024647:c.*2607_*2610delinsT) RAB3IP(uc001svm.3:c.*2607_*2610delinsT,uc001svn.3:c.*2702_*2705delinsT,uc001svp.3:c.*2607_*2610delinsT,uc001svq.3:c.*2702_*2705delinsT,uc001svt.3:c.*2607_*2610delinsT) ENSG00000127328(ENST00000550536:c.*2607_*2610delinsT) Na Na Na Na Na Na Het;-GAA 2391;71|63 Ref Hom;-GAA 6226;3|143 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70211843 70211843 C CAAT indel UTR3 *2617C>CAAT RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs35791347 0 0 0 1 0 0 UTR3 UTR3 UTR3 RAB3IP(NM_022456:c.*2617C>CAAT,NM_175624:c.*2712C>CAAT,NM_175625:c.*2712C>CAAT,NM_175623:c.*2617C>CAAT,NM_001278402:c.*2617C>CAAT,NM_001024647:c.*2617C>CAAT) RAB3IP(uc001svm.3:c.*2617C>CAAT,uc001svn.3:c.*2712C>CAAT,uc001svp.3:c.*2617C>CAAT,uc001svq.3:c.*2712C>CAAT,uc001svt.3:c.*2617C>CAAT) ENSG00000127328(ENST00000550536:c.*2617C>CAAT) Na Na Na Na Na Na Het;+AAT 2431;69|62 Ref Hom;+AAT 6897;0|151 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70213005 70213005 G C snp UTR3 *3779G>C RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs4761169 0.786342 0 0 1 0 0 UTR3 UTR3 UTR3 RAB3IP(NM_022456:c.*3779G>C,NM_175624:c.*3874G>C,NM_175625:c.*3874G>C,NM_175623:c.*3779G>C,NM_001278402:c.*3779G>C,NM_001024647:c.*3779G>C) RAB3IP(uc001svm.3:c.*3779G>C,uc001svn.3:c.*3874G>C,uc001svp.3:c.*3779G>C,uc001svq.3:c.*3874G>C,uc001svt.3:c.*3779G>C) ENSG00000127328(ENST00000550536:c.*3779G>C) Na Na Na Na Na Na Het;G>C 1962;87|77 Ref Hom;G>C 5838;0|204 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70215086 70215086 C G snp UTR3 *5860C>G RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs1882194 0.842252 0 0 1 0 0 UTR3 UTR3 UTR3 RAB3IP(NM_022456:c.*5860C>G,NM_175624:c.*5955C>G,NM_175625:c.*5955C>G,NM_175623:c.*5860C>G,NM_001278402:c.*5860C>G,NM_001024647:c.*5860C>G) RAB3IP(uc001svm.3:c.*5860C>G,uc001svn.3:c.*5955C>G,uc001svp.3:c.*5860C>G,uc001svq.3:c.*5955C>G,uc001svt.3:c.*5860C>G) ENSG00000127328(ENST00000550536:c.*5860C>G) Na Na Na Na Na Na Het;C>G 2476;126|104 Ref Hom;C>G 4974;0|174 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70215515 70215515 G T snp UTR3 *6289G>T RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs1882193 0.84345 0 0 1 0 0 UTR3 UTR3 UTR3 RAB3IP(NM_022456:c.*6289G>T,NM_175624:c.*6384G>T,NM_175625:c.*6384G>T,NM_175623:c.*6289G>T,NM_001278402:c.*6289G>T,NM_001024647:c.*6289G>T) RAB3IP(uc001svm.3:c.*6289G>T,uc001svn.3:c.*6384G>T,uc001svp.3:c.*6289G>T,uc001svq.3:c.*6384G>T,uc001svt.3:c.*6289G>T) ENSG00000127328(ENST00000550536:c.*6289G>T) Na Na Na Na Na Na Het;G>T 1235;135|61 Ref Hom;G>T 3960;0|145 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70215960 70215960 T C snp UTR3 *6734T>C RAB3IP Rab3ip ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP rs1466711 0.791134 0 0 1 0 0 UTR3 UTR3 UTR3 RAB3IP(NM_022456:c.*6734T>C,NM_175624:c.*6829T>C,NM_175625:c.*6829T>C,NM_175623:c.*6734T>C,NM_001278402:c.*6734T>C,NM_001024647:c.*6734T>C) RAB3IP(uc001svm.3:c.*6734T>C,uc001svn.3:c.*6829T>C,uc001svp.3:c.*6734T>C,uc001svq.3:c.*6829T>C,uc001svt.3:c.*6734T>C) ENSG00000127328(ENST00000550536:c.*6734T>C) Na Na Na Na Na Na Het;T>C 1642;61|65 Ref Hom;T>C 3927;0|133 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70274066 70274066 A G snp unknown MYRFL Myrfl ENSG00000166268 myelin regulatory factor-like chr12:70219084-70352877 Behcet Syndrome; Attention deficit hyperactivity disorder and conduct disorder; Attention Deficit and Disruptive Behavior Disorders; Heart Failure; Life Expectancy GO:0006355;regulation of transcription, DNA-templated;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYRFL http://www.informatics.jax.org/searchtool/Search.do?query=MYRFL&submit=Quick%0D%11746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYRFL rs17813773 0.0814696 0 0.1327 0.14 1 7 intergenic intergenic exonic RAB3IP(dist=57082),LINC01481(dist=341904) RAB3IP(dist=57082),C12orf28(dist=46371) ENSG00000166268 Na Na unknown Na Na UNKNOWN Het;A>G 1938;73|88 Ref Hom;A>G 3747;0|142 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70274101 70274101 G A snp intronic MYRFL Myrfl ENSG00000166268 myelin regulatory factor-like chr12:70219084-70352877 Behcet Syndrome; Attention deficit hyperactivity disorder and conduct disorder; Attention Deficit and Disruptive Behavior Disorders; Heart Failure; Life Expectancy GO:0006355;regulation of transcription, DNA-templated;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYRFL http://www.informatics.jax.org/searchtool/Search.do?query=MYRFL&submit=Quick%0D%11746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYRFL rs7310544 0.344848 0 0.4275 1 0 0 intergenic intergenic intronic RAB3IP(dist=57117),LINC01481(dist=341869) RAB3IP(dist=57117),C12orf28(dist=46336) ENSG00000166268 Na Na Na Na Na Na Het;G>A 1399;51|61 Ref Hom;G>A 2593;0|96 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70289124 70289124 G GT indel intronic MYRFL Myrfl ENSG00000166268 myelin regulatory factor-like chr12:70219084-70352877 Behcet Syndrome; Attention deficit hyperactivity disorder and conduct disorder; Attention Deficit and Disruptive Behavior Disorders; Heart Failure; Life Expectancy GO:0006355;regulation of transcription, DNA-templated;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYRFL http://www.informatics.jax.org/searchtool/Search.do?query=MYRFL&submit=Quick%0D%11746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYRFL rs139690592 0 0 0.3407 1 0 0 intergenic intergenic intronic RAB3IP(dist=72140),LINC01481(dist=326846) RAB3IP(dist=72140),C12orf28(dist=31313) ENSG00000166268 Na Na Na Na Na Na Het;+T 1294;65|70 Ref Hom;+T 1809;10|86 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70290921 70290921 C T snp intronic MYRFL Myrfl ENSG00000166268 myelin regulatory factor-like chr12:70219084-70352877 Behcet Syndrome; Attention deficit hyperactivity disorder and conduct disorder; Attention Deficit and Disruptive Behavior Disorders; Heart Failure; Life Expectancy GO:0006355;regulation of transcription, DNA-templated;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYRFL http://www.informatics.jax.org/searchtool/Search.do?query=MYRFL&submit=Quick%0D%11746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYRFL rs10879039 0.172724 0 0.2043 1 0 0 intergenic intergenic intronic RAB3IP(dist=73937),LINC01481(dist=325049) RAB3IP(dist=73937),C12orf28(dist=29516) ENSG00000166268 Na Na Na Na Na Na Het;C>T 769;34|37 Ref Hom;C>T 1477;5|61 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70330087 70330087 A G snp synonymous SNV A111G P37P hydrophobic,neutral hydrophobic,neutral C12orf28 rs813147 0.698882 0 0.7297 1 0 0 intergenic exonic exonic RAB3IP(dist=113103),LINC01481(dist=285883) C12orf28 ENSG00000166268 Na synonymous SNV unknown Na C12orf28:uc001svu.1:exon5:c.A111G:p.P37P,C12orf28:uc010stn.1:exon3:c.A111G:p.P37P, UNKNOWN Het;A>G 728;46|34 Het;A>G 734;46|37 Hom;A>G 1381;1|58 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70635980 70635984 TTGTG T indel ncRNA_exonic LINC01481 rs143825393 0.0279553 0 0 1 0 0 ncRNA_exonic upstream ncRNA_intronic LINC01481 CNOT2 ENSG00000257815 Na Na Na Na Na Na Het;-TGTG 817;37|23 Ref Hom;-TGTG 3158;0|71 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70636350 70636350 T G snp ncRNA_exonic LINC01481 rs28364637 0.120607 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic LINC01481 CNOT2 ENSG00000257815 Na Na Na Na Na Na Het;T>G 1317;62|51 Ref Hom;T>G 3280;0|111 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70636427 70636427 G A snp ncRNA_exonic LINC01481 rs28364638 0.0277556 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic LINC01481 CNOT2 ENSG00000257815 Na Na Na Na Na Na Het;G>A 1144;60|51 Ref Hom;G>A 3321;0|126 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70637516 70637516 C G snp UTR5 -50538C>G CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs370504493 0.0265575 0 0 1 0 0 UTR5 UTR5 UTR5 CNOT2(NM_001199303:c.-34491C>G) CNOT2(uc009zrp.3:c.-67171C>G,uc009zrq.3:c.-34491C>G) ENSG00000111596(ENST00000548159:c.-50538C>G) Na Na Na Na Na Na Het;C>G 177;21|11 Ref Hom;C>G 645;0|24 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70637590 70637590 G C snp UTR5 -50464G>C CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs75061729 0.0265575 0 0 1 0 0 UTR5 UTR5 UTR5 CNOT2(NM_001199303:c.-34417G>C) CNOT2(uc009zrp.3:c.-67097G>C,uc009zrq.3:c.-34417G>C) ENSG00000111596(ENST00000548159:c.-50464G>C,ENST00000549750:c.-34417G>C,ENST00000551043:c.-34417G>C) Na Na Na Na Na Na Het;G>C 532;28|22 Ref Hom;G>C 1235;0|42 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70672149 70672149 T A snp intronic CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs11611635 0.290335 0 0 1 0 0 intronic intronic intronic CNOT2 CNOT2 ENSG00000111596 Na Na Na Na Na Na Het;T>A 474;21|18 Het;T>A 309;18|15 Hom;T>A 1158;0|35 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70713218 70713218 C G snp intronic CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs74396971 0.0313498 0 0 1 0 0 intronic intronic intronic CNOT2 CNOT2 ENSG00000111596 Na Na Na Na Na Na Het;C>G 409;20|19 Ref Hom;C>G 2355;1|79 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70724007 70724007 A T snp intronic CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs2272180 0.269369 0 0 1 0 0 intronic intronic intronic CNOT2 CNOT2 ENSG00000111596 Na Na Na Na Na Na Het;A>T 91;13|6 Het;A>T 171;10|8 Hom;A>T 318;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70740194 70740194 G A snp UTR3 *60G>A CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs3817487 0.570487 0 0 1 0 0 intronic intronic UTR3 CNOT2 CNOT2 ENSG00000111596(ENST00000551710:c.*60G>A) Na Na Na Na Na Na Het;G>A 604;28|25 Het;G>A 391;26|18 Hom;G>A 1489;0|56 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70748229 70748229 G A snp UTR3 *534G>A CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs17108045 0.0255591 0 0 1 0 0 UTR3 UTR3 UTR3 CNOT2(NM_014515:c.*534G>A,NM_001199302:c.*534G>A,NM_001199303:c.*534G>A) CNOT2(uc001svv.3:c.*534G>A,uc009zro.3:c.*534G>A,uc009zrp.3:c.*534G>A,uc009zrq.3:c.*534G>A) ENSG00000111596(ENST00000229195:c.*534G>A,ENST00000418359:c.*534G>A) Na Na Na Na Na Na Het;G>A 2231;99|99 Ref Hom;G>A 4930;4|175 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70748373 70748373 T C snp UTR3 *678T>C CNOT2 Cnot2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 rs77308165 0.0265575 0 0 1 0 0 UTR3 UTR3 UTR3 CNOT2(NM_014515:c.*678T>C,NM_001199302:c.*678T>C,NM_001199303:c.*678T>C) CNOT2(uc001svv.3:c.*678T>C,uc009zro.3:c.*678T>C,uc009zrp.3:c.*678T>C,uc009zrq.3:c.*678T>C) ENSG00000111596(ENST00000229195:c.*678T>C,ENST00000418359:c.*678T>C) Na Na Na Na Na Na Het;T>C 1171;50|48 Ref Hom;T>C 3560;2|126 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70794186 70794186 G A snp intronic KCNMB4 Kcnmb4 ENSG00000135643 potassium calcium-activated channel subfamily M regulatory beta subunit 4 chr12:70760056-70828072 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008] Blood Pressure; Epilepsy|Seizures|Syndrome Homozygous mutation of this gene results in no obvious phenotype. cGMP effects GO:0001508;action potential;IDA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0007268;chemical synaptic transmission;TAS|GO:0019228;neuronal action potential;IDA|GO:0019229;regulation of vasoconstriction;TAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0015459;potassium channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KCNMB4 https://www.uniprot.org/uniprot/Q86W47 https://www.ncbi.nlm.nih.gov/omim/?term=605223 http://www.informatics.jax.org/searchtool/Search.do?query=KCNMB4&submit=Quick%0D%7197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNMB4 rs710651 0.273163 0 0 1 0 0 intronic intronic intronic KCNMB4 KCNMB4 ENSG00000135643 Na Na Na Na Na Na Het;G>A 712;38|29 Ref Hom;G>A 1937;0|67 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70918141 70918141 T G snp ncRNA_intronic BC031864 rs1025407 0.409744 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic PTPRB BC031864 ENSG00000258168 Na Na Na Na Na Na Het;T>G 90;7|4 Ref Hom;T>G 102;0|5 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70918185 70918185 A G snp ncRNA_intronic BC031864 rs1025408 0.410343 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic PTPRB BC031864 ENSG00000258168 Na Na Na Na Na Na Het;A>G 297;13|10 Ref Hom;A>G 731;0|28 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70928616 70928616 G A snp synonymous SNV C6201T C2067C polar,hydrophobic,neutral polar,hydrophobic,neutral PTPRB Ptprb ENSG00000127329 protein tyrosine phosphatase, receptor type B chr12:70910630-71031220 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Calcium; Tobacco Use Disorder; Alcoholism|Substance-Related Disorders; Alcoholism; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043235;receptor complex;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRB https://www.uniprot.org/uniprot/P23467 https://www.ncbi.nlm.nih.gov/omim/?term=176882 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRB&submit=Quick%0D%6023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRB rs3752703 0.391573 0.3466 0.3482 1 0 0 exonic exonic exonic PTPRB PTPRB ENSG00000127329 synonymous SNV synonymous SNV unknown PTPRB:NM_001109754:exon30:c.C6201T:p.C2067C,PTPRB:NM_002837:exon28:c.C5547T:p.C1849C,PTPRB:NM_001206971:exon27:c.C5277T:p.C1759C,PTPRB:NM_001206972:exon27:c.C5277T:p.C1759C, PTPRB:uc010stp.2:exon27:c.C5277T:p.C1759C,PTPRB:uc010sto.2:exon27:c.C5277T:p.C1759C,PTPRB:uc001swa.4:exon29:c.C5937T:p.C1979C,PTPRB:uc001swb.4:exon28:c.C5547T:p.C1849C,PTPRB:uc001swc.4:exon30:c.C6201T:p.C2067C, UNKNOWN Het;G>A 1221;50|56 Ref Hom;G>A 2151;0|78 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70931787 70931787 A AT indel ncRNA_intronic BC031864 rs3214594 0.405751 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic PTPRB BC031864 ENSG00000258168 Na Na Na Na Na Na Het;+T 115;1|6 Ref Hom;+T 78;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70970459 70970459 G GT indel intronic PTPRB Ptprb ENSG00000127329 protein tyrosine phosphatase, receptor type B chr12:70910630-71031220 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Calcium; Tobacco Use Disorder; Alcoholism|Substance-Related Disorders; Alcoholism; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043235;receptor complex;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRB https://www.uniprot.org/uniprot/P23467 https://www.ncbi.nlm.nih.gov/omim/?term=176882 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRB&submit=Quick%0D%6023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRB rs761036430 0 0 0.0009 1 0 0 intronic intronic intronic PTPRB PTPRB ENSG00000127329 Na Na Na Na Na Na Het;+T 125;2|4 Ref Hom;+T 660;0|17 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70970463 70970463 A G snp intronic PTPRB Ptprb ENSG00000127329 protein tyrosine phosphatase, receptor type B chr12:70910630-71031220 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Calcium; Tobacco Use Disorder; Alcoholism|Substance-Related Disorders; Alcoholism; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043235;receptor complex;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRB https://www.uniprot.org/uniprot/P23467 https://www.ncbi.nlm.nih.gov/omim/?term=176882 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRB&submit=Quick%0D%6023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRB rs56305834 0 0 0.0123 1 0 0 intronic intronic intronic PTPRB PTPRB ENSG00000127329 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 629;0|15 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 70984042 70984042 G A snp intronic PTPRB Ptprb ENSG00000127329 protein tyrosine phosphatase, receptor type B chr12:70910630-71031220 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Calcium; Tobacco Use Disorder; Alcoholism|Substance-Related Disorders; Alcoholism; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043235;receptor complex;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRB https://www.uniprot.org/uniprot/P23467 https://www.ncbi.nlm.nih.gov/omim/?term=176882 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRB&submit=Quick%0D%6023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRB rs1465933 0.172524 0.1745 0.1785 1 0 0 intronic intronic intronic PTPRB PTPRB ENSG00000127329 Na Na Na Na Na Na Het;G>A 492;31|19 Ref Hom;G>A 1331;0|46 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71519096 71519096 G C snp UTR3 *18C>G TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs1051344 0.258786 0.3400 0.3491 1 0 0 UTR3 UTR3 UTR3 TSPAN8(NM_004616:c.*18C>G) TSPAN8(uc009zrt.1:c.*18C>G,uc001swj.1:c.*18C>G,uc001swk.1:c.*18C>G) ENSG00000127324(ENST00000393330:c.*18C>G,ENST00000247829:c.*18C>G,ENST00000546561:c.*18C>G,ENST00000552128:c.*18C>G) Na Na Na Na Na Na Het;G>C 431;14|19 Ref Hom;G>C 2248;0|83 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71523134 71523134 A C snp nonsynonymous SNV T637G S213A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs1051334 0.250799 0.3355 0.3449 0.23 3 13 exonic exonic exonic TSPAN8 TSPAN8 ENSG00000127324 nonsynonymous SNV nonsynonymous SNV unknown TSPAN8:NM_004616:exon8:c.T637G:p.S213A, TSPAN8:uc009zrt.1:exon7:c.T637G:p.S213A,TSPAN8:uc001swk.1:exon11:c.T637G:p.S213A,TSPAN8:uc001swj.1:exon8:c.T637G:p.S213A, UNKNOWN Het;A>C 400;32|24 Ref Hom;A>C 1880;0|71 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71523199 71523201 TAA T indel intronic TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs143821581 0 0 0.4166 1 0 0 intronic intronic intronic TSPAN8 TSPAN8 ENSG00000127324 Na Na Na Na Na Na Het;-AA 299;29|13 Ref Hom;-AA 1485;3|45 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71531663 71531663 A T snp intronic TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs2270585 0.25 0 0 1 0 0 intronic intronic intronic TSPAN8 TSPAN8 ENSG00000127324 Na Na Na Na Na Na Het;A>T 160;9|7 Ref Hom;A>T 379;0|13 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71532099 71532099 G A snp intronic TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs2270584 0.25 0 0 1 0 0 intronic intronic intronic TSPAN8 TSPAN8 ENSG00000127324 Na Na Na Na Na Na Het;G>A 67;6|3 Ref Hom;G>A 354;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71533534 71533534 C G snp nonsynonymous SNV G218C G73A aliphatic,neutral aliphatic,hydrophobic,neutral TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs3763978 0.227037 0.3082 0.3332 0.85 11 13 exonic exonic exonic TSPAN8 TSPAN8 ENSG00000127324 nonsynonymous SNV nonsynonymous SNV unknown TSPAN8:NM_004616:exon4:c.G218C:p.G73A, TSPAN8:uc009zrt.1:exon3:c.G218C:p.G73A,TSPAN8:uc001swk.1:exon7:c.G218C:p.G73A,TSPAN8:uc001swj.1:exon4:c.G218C:p.G73A, UNKNOWN Het;C>G 1127;99|52 Ref Hom;C>G 3385;2|123 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71953540 71953540 G C snp intronic LGR5 Lgr5 ENSG00000139292 leucine rich repeat containing G protein-coupled receptor 5 chr12:71833550-71980090 The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Coronary Artery Disease; Posttransplantation diabetes mellitus (PTDM); Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 2; type 2 diabetes; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Glomerular Filtration Rate; Blood Pressure; Type 2 diabetes; Exercise Test; obesity Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. Regulation of FZD by ubiquitination GO:0001942;hair follicle development;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0009994;oocyte differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0048839;inner ear development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0016500;protein-hormone receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGR5 https://www.uniprot.org/uniprot/O75473 https://www.ncbi.nlm.nih.gov/omim/?term=606667 http://www.informatics.jax.org/searchtool/Search.do?query=LGR5&submit=Quick%0D%7867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR5 rs3765015 0.205871 0 0 1 0 0 intronic intronic intronic LGR5 LGR5 ENSG00000139292 Na Na Na Na Na Na Het;G>C 563;13|15 Ref Hom;G>C 737;0|18 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71953542 71953542 T G snp intronic LGR5 Lgr5 ENSG00000139292 leucine rich repeat containing G protein-coupled receptor 5 chr12:71833550-71980090 The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Coronary Artery Disease; Posttransplantation diabetes mellitus (PTDM); Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 2; type 2 diabetes; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Glomerular Filtration Rate; Blood Pressure; Type 2 diabetes; Exercise Test; obesity Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. Regulation of FZD by ubiquitination GO:0001942;hair follicle development;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0009994;oocyte differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0048839;inner ear development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0016500;protein-hormone receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGR5 https://www.uniprot.org/uniprot/O75473 https://www.ncbi.nlm.nih.gov/omim/?term=606667 http://www.informatics.jax.org/searchtool/Search.do?query=LGR5&submit=Quick%0D%7867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR5 rs3765016 0.205871 0 0 1 0 0 intronic intronic intronic LGR5 LGR5 ENSG00000139292 Na Na Na Na Na Na Het;T>G 563;13|15 Ref Hom;T>G 737;0|16 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 71966836 71966836 G A snp intronic LGR5 Lgr5 ENSG00000139292 leucine rich repeat containing G protein-coupled receptor 5 chr12:71833550-71980090 The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Coronary Artery Disease; Posttransplantation diabetes mellitus (PTDM); Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 2; type 2 diabetes; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Glomerular Filtration Rate; Blood Pressure; Type 2 diabetes; Exercise Test; obesity Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. Regulation of FZD by ubiquitination GO:0001942;hair follicle development;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0009994;oocyte differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0048839;inner ear development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0016500;protein-hormone receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGR5 https://www.uniprot.org/uniprot/O75473 https://www.ncbi.nlm.nih.gov/omim/?term=606667 http://www.informatics.jax.org/searchtool/Search.do?query=LGR5&submit=Quick%0D%7867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR5 rs11178860 0.243011 0 0 1 0 0 intronic intronic intronic LGR5 LGR5 ENSG00000139292 Na Na Na Na Na Na Het;G>A 153;6|6 Ref Hom;G>A 99;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72057375 72057375 T C snp nonsynonymous SNV A16G T6A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZFC3H1 Zfc3h1 ENSG00000133858 zinc finger C3H1-type containing chr12:72003252-72061505 Coronary Artery Disease; Lipoproteins GO:0006396;RNA processing;IEA GO:0005615;extracellular space;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFC3H1 https://www.uniprot.org/uniprot/O60293 http://www.informatics.jax.org/searchtool/Search.do?query=ZFC3H1&submit=Quick%0D%6878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFC3H1 rs368259965 0.00159744 8e-05 0.0009 0.00 0 13 exonic exonic exonic ZFC3H1 ZFC3H1 ENSG00000133858 nonsynonymous SNV nonsynonymous SNV unknown ZFC3H1:NM_144982:exon1:c.A16G:p.T6A, ZFC3H1:uc001swp.3:exon1:c.A16G:p.T6A,ZFC3H1:uc001swo.2:exon1:c.A16G:p.T6A,ZFC3H1:uc010sts.2:exon1:c.A16G:p.T6A, UNKNOWN Het;T>C 1161;52|50 Ref Hom;T>C 2379;0|87 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72058416 72058416 G T snp intronic THAP2 Thap2 ENSG00000173451 THAP domain containing 2 chr12:72056789-72074419 Coronary Artery Disease GO:0005730;nucleolus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THAP2 https://www.ncbi.nlm.nih.gov/omim/?term=612531 http://www.informatics.jax.org/searchtool/Search.do?query=THAP2&submit=Quick%0D%13359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THAP2 rs3741691 0.465056 0.2545 0 1 0 0 intronic intronic intronic THAP2 THAP2 ENSG00000173451 Na Na Na Na Na Na Het;G>T 676;22|27 Ref Hom;G>T 1024;0|36 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72091025 72091025 T G snp intronic TMEM19 Tmem19 ENSG00000139291 transmembrane protein 19 chr12:72079867-72097836 Male mice homozygous for a null allele exhibit normal fertility. GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM19 https://www.uniprot.org/uniprot/Q96HH6 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM19&submit=Quick%0D%7866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM19 rs3741690 0.611821 0 0.3974 1 0 0 intronic intronic intronic TMEM19 TMEM19 ENSG00000139291,ENSG00000258064 Na Na Na Na Na Na Het;T>G 402;27|16 Ref Hom;T>G 632;0|23 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72206218 72206218 A ATTAT indel intergenic RAB21 Rab21 ENSG00000080371 RAB21, member RAS oncogene family chr12:72148654-72184699 This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0008089;anterograde axonal transport;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IDA|GO:0030516;regulation of axon extension;IEA|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:2000643;positive regulation of early endosome to late endosome transport;IMP GO:0000139;Golgi membrane;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0032154;cleavage furrow;IEA|GO:0032580;Golgi cisterna membrane;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0098559;cytoplasmic side of early endosome membrane;IDA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAB21 https://www.uniprot.org/uniprot/Q9UL25 https://www.ncbi.nlm.nih.gov/omim/?term=612398 http://www.informatics.jax.org/searchtool/Search.do?query=RAB21&submit=Quick%0D%1728ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB21 rs35611955 0 0 0 1 0 0 intergenic intergenic intergenic RAB21(dist=25068),TBC1D15(dist=27269) RAB21(dist=25068),TBC1D15(dist=27269) ENSG00000257410(dist=12811),ENSG00000257991(dist=22596) Na Na Na Na Na Na Het;+TTAT 85;1|3 Ref Hom;+TTAT 178;0|5 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72242758 72242758 G A snp ncRNA_exonic MRS2P2 rs6582058 0.0902556 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic MRS2P2 MRS2P2 ENSG00000121749 Na Na Na Na Na Na Het;G>A 1642;97|77 Ref Hom;G>A 5980;2|230 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72274556 72274556 A G snp intronic TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs17110365 0.0740815 0 0 1 0 0 intronic intronic intronic TBC1D15 TBC1D15 ENSG00000121749 Na Na Na Na Na Na Het;A>G 56;5|3 Ref Hom;A>G 347;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72287159 72287159 T C snp intronic TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs10467177 0.363219 0 0 1 0 0 intronic intronic intronic TBC1D15 TBC1D15 ENSG00000121749 Na Na Na Na Na Na Het;T>C 347;14|13 Ref Hom;T>C 1900;1|71 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72287220 72287220 A ATG indel intronic TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs139574467 0 0 0 1 0 0 intronic intronic intronic TBC1D15 TBC1D15 ENSG00000121749 Na Na Na Na Na Na Het;+TG 86;3|4 Ref Hom;+TG 464;1|15 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72307616 72307616 A G snp synonymous SNV A1335G Q445Q polar,hydrophilic,neutral polar,hydrophilic,neutral TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs3759171 0.665735 0.4704 0.4531 1 0 0 exonic exonic exonic TBC1D15 TBC1D15 ENSG00000121749 synonymous SNV synonymous SNV unknown TBC1D15:NM_001146214:exon13:c.A1335G:p.Q445Q,TBC1D15:NM_001146213:exon12:c.A1311G:p.Q437Q,TBC1D15:NM_022771:exon13:c.A1362G:p.Q454Q, TBC1D15:uc001sww.3:exon11:c.A624G:p.Q208Q,TBC1D15:uc010stt.2:exon13:c.A1335G:p.Q445Q,TBC1D15:uc001swv.3:exon12:c.A1311G:p.Q437Q,TBC1D15:uc001swu.3:exon13:c.A1362G:p.Q454Q, UNKNOWN Het;A>G 1139;62|50 Ref Hom;A>G 6508;0|237 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72307824 72307824 C T snp intronic TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs17110396 0.0888578 0 0 1 0 0 intronic intronic intronic TBC1D15 TBC1D15 ENSG00000121749 Na Na Na Na Na Na Het;C>T 210;11|8 Ref Hom;C>T 636;0|20 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72312268 72312268 G A snp synonymous SNV G1563A R521R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs11178985 0.165335 0.1933 0.1197 1 0 0 exonic exonic exonic TBC1D15 TBC1D15 ENSG00000121749 synonymous SNV synonymous SNV unknown TBC1D15:NM_001146214:exon15:c.G1563A:p.R521R,TBC1D15:NM_001146213:exon14:c.G1539A:p.R513R,TBC1D15:NM_022771:exon15:c.G1590A:p.R530R, TBC1D15:uc001sww.3:exon13:c.G852A:p.R284R,TBC1D15:uc010stt.2:exon15:c.G1563A:p.R521R,TBC1D15:uc001swv.3:exon14:c.G1539A:p.R513R,TBC1D15:uc001swu.3:exon15:c.G1590A:p.R530R, UNKNOWN Het;G>A 657;67|38 Ref Hom;G>A 2345;0|90 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72314744 72314744 A G snp intronic TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs17110421 0.0730831 0 0 1 0 0 intronic intronic intronic TBC1D15 TBC1D15 ENSG00000121749 Na Na Na Na Na Na Het;A>G 296;5|9 Ref Hom;A>G 144;0|5 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72317808 72317808 G T snp UTR3 *824G>T TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs11609372 0.0686901 0 0 1 0 0 UTR3 UTR3 UTR3 TBC1D15(NM_001146213:c.*824G>T,NM_022771:c.*824G>T,NM_001146214:c.*824G>T) TBC1D15(uc001swu.3:c.*824G>T,uc010stt.2:c.*824G>T,uc001swv.3:c.*824G>T,uc001sww.3:c.*824G>T) ENSG00000121749(ENST00000550746:c.*824G>T) Na Na Na Na Na Na Het;G>T 311;57|19 Ref Hom;G>T 1762;0|63 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72317829 72317829 T C snp UTR3 *845T>C TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs4457797 0.428115 0 0 1 0 0 UTR3 UTR3 UTR3 TBC1D15(NM_001146213:c.*845T>C,NM_022771:c.*845T>C,NM_001146214:c.*845T>C) TBC1D15(uc001swu.3:c.*845T>C,uc010stt.2:c.*845T>C,uc001swv.3:c.*845T>C,uc001sww.3:c.*845T>C) ENSG00000121749(ENST00000550746:c.*845T>C) Na Na Na Na Na Na Het;T>C 335;53|19 Ref Hom;T>C 1764;0|65 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72319283 72319283 G T snp UTR3 *2299G>T TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs9325200 0.165335 0 0 1 0 0 UTR3 UTR3 UTR3 TBC1D15(NM_001146213:c.*2299G>T,NM_022771:c.*2299G>T,NM_001146214:c.*2299G>T) TBC1D15(uc001swu.3:c.*2299G>T,uc010stt.2:c.*2299G>T,uc001swv.3:c.*2299G>T,uc001sww.3:c.*2299G>T) ENSG00000121749(ENST00000550746:c.*2299G>T) Na Na Na Na Na Na Het;G>T 1968;53|53 Ref Hom;G>T 4764;0|109 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72319289 72319289 G A snp UTR3 *2305G>A TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs9325201 0.165335 0 0 1 0 0 UTR3 UTR3 UTR3 TBC1D15(NM_001146213:c.*2305G>A,NM_022771:c.*2305G>A,NM_001146214:c.*2305G>A) TBC1D15(uc001swu.3:c.*2305G>A,uc010stt.2:c.*2305G>A,uc001swv.3:c.*2305G>A,uc001sww.3:c.*2305G>A) ENSG00000121749(ENST00000550746:c.*2305G>A) Na Na Na Na Na Na Het;G>A 1983;54|52 Ref Hom;G>A 4621;0|104 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72319687 72319690 CATG C indel UTR3 *2703_*2706delinsC TBC1D15 Tbc1d15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 rs77958800 0.0728834 0 0 1 0 0 UTR3 UTR3 UTR3 TBC1D15(NM_001146213:c.*2703_*2706delinsC,NM_022771:c.*2703_*2706delinsC,NM_001146214:c.*2703_*2706delinsC) TBC1D15(uc001swu.3:c.*2703_*2706delinsC,uc010stt.2:c.*2703_*2706delinsC,uc001swv.3:c.*2703_*2706delinsC,uc001sww.3:c.*2703_*2706delinsC) ENSG00000121749(ENST00000550746:c.*2703_*2706delinsC) Na Na Na Na Na Na Het;-ATG 1888;36|49 Ref Hom;-ATG 4412;0|99 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72366186 72366186 C T snp intronic TPH2 Tph2 ENSG00000139287 tryptophan hydroxylase 2 chr12:72332626-72580398 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016] cocaine dependence; financial and psychological risk attitudes; bipolar disorder unipolar disorder; suicide; ADHD | attention-deficit hyperactivity disorder; depression; depressive disorder, major; monoamine turnover mood disorders suicide; Kawasaki disease; alcoholism suicide; negative affective facial stimuli ; Alcoholism|Recurrence; Alcoholism|; cognitive ability; attention deficit hyperactivity disorder; null; bipolar disorder; Psychophysiologic Disorders; Bulimia; personality traits; Prenatal Exposure Delayed Effects; Heroin Dependence; emotion regulation; Tobacco Use Disorder; bipolar disorder suicide; response to antidepressants; Sudden Infant Death; Brain Injuries; personality; risk-taking behavior in a gambling task ; citalopram; amygdalar and hippocampal volumes; Bipolar Disorder; depression, interferon-induced; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; decision making; bipolar disorder depressive disorder, major; Autism; antipsychotic-induced adverse reactions; Type 2 Diabetes| edema | rosiglitazone; borderline personality disorder and aggression; Waist Circumference; Schizophrenia; Hepatopulmonary Syndrome|Liver Cirrhosis; normal variation; affective psychoses autism obsessive compulsive disorder; chronic fatigue syndrome; autism; panic disorder; Migraine Disorders; alcohol consumption; ADHD; impulsivity; response inhibition; Alcoholism; Weight Gain; depression | metabolic syndrome Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. Serotonin and melatonin biosynthesis GO:0007623;circadian rhythm;IEA|GO:0008152;metabolic process;IEA|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0014823;response to activity;IEA|GO:0031667;response to nutrient levels;IEA|GO:0042427;serotonin biosynthetic process;IEA|GO:0043627;response to estrogen;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0051384;response to glucocorticoid;IEA|GO:0051592;response to calcium ion;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071285;cellular response to lithium ion;IEA GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA GO:0004497;monooxygenase activity;IEA|GO:0004510;tryptophan 5-monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPH2 https://www.uniprot.org/uniprot/Q8IWU9 https://www.ncbi.nlm.nih.gov/omim/?term=607478 http://www.informatics.jax.org/searchtool/Search.do?query=TPH2&submit=Quick%0D%7864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPH2 rs7963720 0.468251 0 0 1 0 0 intronic intronic intronic TPH2 TPH2 ENSG00000139287 Na Na Na Na Na Na Het;C>T 338;7|11 Het;C>T 248;3|9 Hom;C>T 441;0|13 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72372601 72372601 C T snp intronic TPH2 Tph2 ENSG00000139287 tryptophan hydroxylase 2 chr12:72332626-72580398 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016] cocaine dependence; financial and psychological risk attitudes; bipolar disorder unipolar disorder; suicide; ADHD | attention-deficit hyperactivity disorder; depression; depressive disorder, major; monoamine turnover mood disorders suicide; Kawasaki disease; alcoholism suicide; negative affective facial stimuli ; Alcoholism|Recurrence; Alcoholism|; cognitive ability; attention deficit hyperactivity disorder; null; bipolar disorder; Psychophysiologic Disorders; Bulimia; personality traits; Prenatal Exposure Delayed Effects; Heroin Dependence; emotion regulation; Tobacco Use Disorder; bipolar disorder suicide; response to antidepressants; Sudden Infant Death; Brain Injuries; personality; risk-taking behavior in a gambling task ; citalopram; amygdalar and hippocampal volumes; Bipolar Disorder; depression, interferon-induced; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; decision making; bipolar disorder depressive disorder, major; Autism; antipsychotic-induced adverse reactions; Type 2 Diabetes| edema | rosiglitazone; borderline personality disorder and aggression; Waist Circumference; Schizophrenia; Hepatopulmonary Syndrome|Liver Cirrhosis; normal variation; affective psychoses autism obsessive compulsive disorder; chronic fatigue syndrome; autism; panic disorder; Migraine Disorders; alcohol consumption; ADHD; impulsivity; response inhibition; Alcoholism; Weight Gain; depression | metabolic syndrome Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. Serotonin and melatonin biosynthesis GO:0007623;circadian rhythm;IEA|GO:0008152;metabolic process;IEA|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0014823;response to activity;IEA|GO:0031667;response to nutrient levels;IEA|GO:0042427;serotonin biosynthetic process;IEA|GO:0043627;response to estrogen;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0051384;response to glucocorticoid;IEA|GO:0051592;response to calcium ion;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071285;cellular response to lithium ion;IEA GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA GO:0004497;monooxygenase activity;IEA|GO:0004510;tryptophan 5-monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPH2 https://www.uniprot.org/uniprot/Q8IWU9 https://www.ncbi.nlm.nih.gov/omim/?term=607478 http://www.informatics.jax.org/searchtool/Search.do?query=TPH2&submit=Quick%0D%7864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPH2 rs4760816 0.536342 0 0 1 0 0 intronic intronic intronic TPH2 TPH2 ENSG00000139287 Na Na Na Na Na Na Het;C>T 55;7|3 Het;C>T 67;5|3 Hom;C>T 326;0|9 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72372862 72372862 A G snp synonymous SNV A936G P312P hydrophobic,neutral hydrophobic,neutral TPH2 Tph2 ENSG00000139287 tryptophan hydroxylase 2 chr12:72332626-72580398 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016] cocaine dependence; financial and psychological risk attitudes; bipolar disorder unipolar disorder; suicide; ADHD | attention-deficit hyperactivity disorder; depression; depressive disorder, major; monoamine turnover mood disorders suicide; Kawasaki disease; alcoholism suicide; negative affective facial stimuli ; Alcoholism|Recurrence; Alcoholism|; cognitive ability; attention deficit hyperactivity disorder; null; bipolar disorder; Psychophysiologic Disorders; Bulimia; personality traits; Prenatal Exposure Delayed Effects; Heroin Dependence; emotion regulation; Tobacco Use Disorder; bipolar disorder suicide; response to antidepressants; Sudden Infant Death; Brain Injuries; personality; risk-taking behavior in a gambling task ; citalopram; amygdalar and hippocampal volumes; Bipolar Disorder; depression, interferon-induced; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; decision making; bipolar disorder depressive disorder, major; Autism; antipsychotic-induced adverse reactions; Type 2 Diabetes| edema | rosiglitazone; borderline personality disorder and aggression; Waist Circumference; Schizophrenia; Hepatopulmonary Syndrome|Liver Cirrhosis; normal variation; affective psychoses autism obsessive compulsive disorder; chronic fatigue syndrome; autism; panic disorder; Migraine Disorders; alcohol consumption; ADHD; impulsivity; response inhibition; Alcoholism; Weight Gain; depression | metabolic syndrome Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. Serotonin and melatonin biosynthesis GO:0007623;circadian rhythm;IEA|GO:0008152;metabolic process;IEA|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0014823;response to activity;IEA|GO:0031667;response to nutrient levels;IEA|GO:0042427;serotonin biosynthetic process;IEA|GO:0043627;response to estrogen;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0051384;response to glucocorticoid;IEA|GO:0051592;response to calcium ion;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071285;cellular response to lithium ion;IEA GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA GO:0004497;monooxygenase activity;IEA|GO:0004510;tryptophan 5-monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPH2 https://www.uniprot.org/uniprot/Q8IWU9 https://www.ncbi.nlm.nih.gov/omim/?term=607478 http://www.informatics.jax.org/searchtool/Search.do?query=TPH2&submit=Quick%0D%7864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPH2 rs7305115 0.541733 0.5819 0.5647 1 0 0 exonic exonic exonic TPH2 TPH2 ENSG00000139287 synonymous SNV synonymous SNV unknown TPH2:NM_173353:exon7:c.A936G:p.P312P, TPH2:uc001swy.2:exon6:c.A666G:p.P222P,TPH2:uc009zrw.1:exon7:c.A936G:p.P312P, UNKNOWN Het;A>G 896;68|44 Het;A>G 1164;59|59 Hom;A>G 2834;2|106 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72725802 72725802 G A snp intronic TRHDE Trhde ENSG00000072657 thyrotropin releasing hormone degrading enzyme chr12:72481046-73059422 This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] Lipoproteins, HDL; Tobacco Use Disorder; Body Weights and Measures; Hip; Body Height; monocyte chemoattractant protein 1 (66-77); Chemokines; Lipoproteins, VLDL; Arthritis, Rheumatoid; Cholesterol, LDL; plasma chemerin levels ; Coronary Artery Disease; Hemoglobins; Type 2 Diabetes| edema | rosiglitazone; Arteries GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008217;regulation of blood pressure;IBA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRHDE https://www.uniprot.org/uniprot/Q9UKU6 https://www.ncbi.nlm.nih.gov/omim/?term=606950 http://www.informatics.jax.org/searchtool/Search.do?query=TRHDE&submit=Quick%0D%1441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRHDE rs34097668 0.261981 0 0 1 0 0 intronic intronic intronic TRHDE TRHDE ENSG00000072657 Na Na Na Na Na Na Het;G>A 233;10|12 Ref Hom;G>A 700;2|27 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 72725926 72725927 CT C indel intronic TRHDE Trhde ENSG00000072657 thyrotropin releasing hormone degrading enzyme chr12:72481046-73059422 This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] Lipoproteins, HDL; Tobacco Use Disorder; Body Weights and Measures; Hip; Body Height; monocyte chemoattractant protein 1 (66-77); Chemokines; Lipoproteins, VLDL; Arthritis, Rheumatoid; Cholesterol, LDL; plasma chemerin levels ; Coronary Artery Disease; Hemoglobins; Type 2 Diabetes| edema | rosiglitazone; Arteries GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008217;regulation of blood pressure;IBA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRHDE https://www.uniprot.org/uniprot/Q9UKU6 https://www.ncbi.nlm.nih.gov/omim/?term=606950 http://www.informatics.jax.org/searchtool/Search.do?query=TRHDE&submit=Quick%0D%1441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRHDE rs34965504 0.266374 0 0 1 0 0 intronic intronic intronic TRHDE TRHDE ENSG00000072657 Na Na Na Na Na Na Het;-T 230;9|13 Ref Hom;-T 342;2|17 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 73057088 73057088 G A snp UTR3 *113G>A TRHDE Trhde ENSG00000072657 thyrotropin releasing hormone degrading enzyme chr12:72481046-73059422 This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] Lipoproteins, HDL; Tobacco Use Disorder; Body Weights and Measures; Hip; Body Height; monocyte chemoattractant protein 1 (66-77); Chemokines; Lipoproteins, VLDL; Arthritis, Rheumatoid; Cholesterol, LDL; plasma chemerin levels ; Coronary Artery Disease; Hemoglobins; Type 2 Diabetes| edema | rosiglitazone; Arteries GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008217;regulation of blood pressure;IBA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRHDE https://www.uniprot.org/uniprot/Q9UKU6 https://www.ncbi.nlm.nih.gov/omim/?term=606950 http://www.informatics.jax.org/searchtool/Search.do?query=TRHDE&submit=Quick%0D%1441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRHDE rs73146999 0.0571086 0 0 1 0 0 UTR3 UTR3 UTR3 TRHDE(NM_013381:c.*113G>A) TRHDE(uc001sxa.3:c.*113G>A) ENSG00000072657(ENST00000261180:c.*113G>A) Na Na Na Na Na Na Het;G>A 74;5|4 Ref Hom;G>A 203;0|6 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 73201225 73201225 A C snp intergenic TRHDE Trhde ENSG00000072657 thyrotropin releasing hormone degrading enzyme chr12:72481046-73059422 This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] Lipoproteins, HDL; Tobacco Use Disorder; Body Weights and Measures; Hip; Body Height; monocyte chemoattractant protein 1 (66-77); Chemokines; Lipoproteins, VLDL; Arthritis, Rheumatoid; Cholesterol, LDL; plasma chemerin levels ; Coronary Artery Disease; Hemoglobins; Type 2 Diabetes| edema | rosiglitazone; Arteries GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008217;regulation of blood pressure;IBA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRHDE https://www.uniprot.org/uniprot/Q9UKU6 https://www.ncbi.nlm.nih.gov/omim/?term=606950 http://www.informatics.jax.org/searchtool/Search.do?query=TRHDE&submit=Quick%0D%1441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRHDE rs11833412 0.296126 0 0 1 0 0 intergenic intergenic intergenic TRHDE(dist=141803),LOC101928137(dist=351745) TRHDE(dist=141803),LOC100507377(dist=1325731) ENSG00000216084(dist=16800),ENSG00000258294(dist=308512) Na Na Na Na Na Na Het;A>C 252;18|13 Het;A>C 296;26|15 Hom;A>C 733;0|29 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 73201317 73201317 A G snp intergenic TRHDE Trhde ENSG00000072657 thyrotropin releasing hormone degrading enzyme chr12:72481046-73059422 This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] Lipoproteins, HDL; Tobacco Use Disorder; Body Weights and Measures; Hip; Body Height; monocyte chemoattractant protein 1 (66-77); Chemokines; Lipoproteins, VLDL; Arthritis, Rheumatoid; Cholesterol, LDL; plasma chemerin levels ; Coronary Artery Disease; Hemoglobins; Type 2 Diabetes| edema | rosiglitazone; Arteries GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008217;regulation of blood pressure;IBA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRHDE https://www.uniprot.org/uniprot/Q9UKU6 https://www.ncbi.nlm.nih.gov/omim/?term=606950 http://www.informatics.jax.org/searchtool/Search.do?query=TRHDE&submit=Quick%0D%1441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRHDE rs35178980 0.295927 0 0 1 0 0 intergenic intergenic intergenic TRHDE(dist=141895),LOC101928137(dist=351653) TRHDE(dist=141895),LOC100507377(dist=1325639) ENSG00000216084(dist=16892),ENSG00000258294(dist=308420) Na Na Na Na Na Na Het;A>G 428;34|20 Het;A>G 536;23|25 Hom;A>G 1472;0|59 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 73683490 73683490 A G snp intergenic LOC101928137 rs7307280 0.81849 0 0 1 0 0 intergenic intergenic intergenic LOC101928137(dist=81393),LOC100507377(dist=843466) TRHDE(dist=624068),LOC100507377(dist=843466) ENSG00000258123(dist=81393),ENSG00000243164(dist=358956) Na Na Na Na Na Na Het;A>G 94;1|5 Ref Hom;A>G 71;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74564524 74564524 G A snp ncRNA_exonic AC090502.4 rs77359463 0.04373 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic LOC100507377 LOC100507377 ENSG00000258320 Na Na Na Na Na Na Het;G>A 259;10|11 Ref Hom;G>A 765;0|28 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74565295 74565295 C T snp ncRNA_exonic AC090502.4 rs6582210 0.283347 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic LOC100507377 LOC100507377 ENSG00000258320 Na Na Na Na Na Na Het;C>T 334;8|13 Ref Hom;C>T 236;0|9 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74686076 74686076 A G snp ncRNA_exonic AC090502.1 rs10879746 0.717652 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic LOC100507377 LOC100507377 ENSG00000251138 Na Na Na Na Na Na Het;A>G 959;35|43 Het;A>G 608;36|30 Hom;A>G 2533;0|94 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74686394 74686394 A G snp ncRNA_exonic LOC100507377 rs73350827 0.134585 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic LOC100507377 LOC100507377(uc009zrx.3:c.-6700T>C) ENSG00000251138,ENSG00000257364 Na Na Na Na Na Na Het;A>G 2000;69|91 Ref Hom;A>G 3246;0|118 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74686574 74686574 T G snp ncRNA_exonic AC090502.1 rs2278188 0.32508 0 0 1 0 0 upstream upstream ncRNA_exonic LOC100507377 LOC100507377 ENSG00000251138,ENSG00000257364 Na Na Na Na Na Na Het;T>G 190;4|7 Ref Hom;T>G 332;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74786435 74786437 ATG A indel ncRNA_intronic AC090502.1 rs141818786 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC100507377(dist=100024),ATXN7L3B(dist=145114) LOC100507377(dist=100024),TRNA_Gln(dist=64745) ENSG00000251138 Na Na Na Na Na Na Het;-TG 217;3|9 Het;-TG 344;2|13 Hom;-TG 324;0|8 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74786457 74786457 G A snp ncRNA_intronic AC090502.1 rs10785112 0.292332 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC100507377(dist=100046),ATXN7L3B(dist=145094) LOC100507377(dist=100046),TRNA_Gln(dist=64725) ENSG00000251138 Na Na Na Na Na Na Het;G>A 202;2|10 Ref Hom;G>A 262;0|8 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 74932159 74932159 G C snp synonymous SNV G267C L89L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ATXN7L3B Atxn7l3b ENSG00000253719 ataxin 7 like 3B chr12:74931551-74935223 Hematocrit; Cardiomegaly; Hemoglobins; Body Height; Osteoporosis http://www.genecards.org/index.php?path=/Search/keyword/ATXN7L3B https://www.ncbi.nlm.nih.gov/omim/?term=615579 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN7L3B&submit=Quick%0D%20034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN7L3B rs590352 0.669329 0.6202 0.7231 1 0 0 exonic exonic exonic ATXN7L3B ATXN7L3B ENSG00000253719 synonymous SNV synonymous SNV unknown ATXN7L3B:NM_001136262:exon1:c.G267C:p.L89L, ATXN7L3B:uc001sxd.4:exon1:c.G267C:p.L89L, UNKNOWN Het;G>C 1629;58|65 Ref Hom;G>C 2680;0|92 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75678872 75678874 CAG C indel ncRNA_intronic AC091534.1 rs577181232 0.00559105 0.0002 0.0032 1 0 0 intronic intronic ncRNA_intronic CAPS2 CAPS2 ENSG00000254451 Na Na Na Na Na Na Het;-AG 1715;66|48 Ref Hom;-AG 5397;0|124 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75692755 75692755 A T snp intronic CAPS2 Caps2 ENSG00000180881 calcyphosine 2 chr12:75669759-75784708 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] GO:0035725;sodium ion transmembrane transport;IEA|GO:0055074;calcium ion homeostasis;IBA GO:0005432;calcium:sodium antiporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPS2 https://www.ncbi.nlm.nih.gov/omim/?term=607724 http://www.informatics.jax.org/searchtool/Search.do?query=CAPS2&submit=Quick%0D%14541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPS2 rs7296952 0.388978 0.3205 0.3429 1 0 0 intronic intronic intronic CAPS2 CAPS2 ENSG00000180881 Na Na Na Na Na Na Het;A>T 843;48|37 Ref Hom;A>T 3895;0|139 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75693520 75693520 C T snp intronic CAPS2 Caps2 ENSG00000180881 calcyphosine 2 chr12:75669759-75784708 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] GO:0035725;sodium ion transmembrane transport;IEA|GO:0055074;calcium ion homeostasis;IBA GO:0005432;calcium:sodium antiporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPS2 https://www.ncbi.nlm.nih.gov/omim/?term=607724 http://www.informatics.jax.org/searchtool/Search.do?query=CAPS2&submit=Quick%0D%14541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPS2 rs11180451 0.240216 0 0 1 0 0 intronic intronic intronic CAPS2 CAPS2 ENSG00000180881 Na Na Na Na Na Na Het;C>T 122;10|5 Ref Hom;C>T 243;0|7 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75693531 75693531 A C snp intronic CAPS2 Caps2 ENSG00000180881 calcyphosine 2 chr12:75669759-75784708 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] GO:0035725;sodium ion transmembrane transport;IEA|GO:0055074;calcium ion homeostasis;IBA GO:0005432;calcium:sodium antiporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPS2 https://www.ncbi.nlm.nih.gov/omim/?term=607724 http://www.informatics.jax.org/searchtool/Search.do?query=CAPS2&submit=Quick%0D%14541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPS2 rs61932923 0.240216 0 0 1 0 0 intronic intronic intronic CAPS2 CAPS2 ENSG00000180881 Na Na Na Na Na Na Het;A>C 167;13|7 Ref Hom;A>C 278;0|8 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75693751 75693751 G A snp intronic CAPS2 Caps2 ENSG00000180881 calcyphosine 2 chr12:75669759-75784708 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] GO:0035725;sodium ion transmembrane transport;IEA|GO:0055074;calcium ion homeostasis;IBA GO:0005432;calcium:sodium antiporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPS2 https://www.ncbi.nlm.nih.gov/omim/?term=607724 http://www.informatics.jax.org/searchtool/Search.do?query=CAPS2&submit=Quick%0D%14541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPS2 rs7301532 0.345248 0.2686 0 1 0 0 intronic intronic intronic CAPS2 CAPS2 ENSG00000180881 Na Na Na Na Na Na Het;G>A 111;18|7 Ref Hom;G>A 522;0|19 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75824460 75824460 T C snp intronic GLIPR1L2 Glipr1l2 ENSG00000180481 GLI pathogenesis related 1 like 2 chr12:75784850-75826468 This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1L2 https://www.ncbi.nlm.nih.gov/omim/?term=610394 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1L2&submit=Quick%0D%14487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1L2 rs12833944 0.184904 0 0.1874 1 0 0 intronic intronic intronic GLIPR1L2 GLIPR1L2 ENSG00000180481 Na Na Na Na Na Na Het;T>C 572;10|23 Ref Hom;T>C 1022;0|30 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75824893 75824893 G A snp synonymous SNV G987A E329E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) GLIPR1L2 Glipr1l2 ENSG00000180481 GLI pathogenesis related 1 like 2 chr12:75784850-75826468 This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1L2 https://www.ncbi.nlm.nih.gov/omim/?term=610394 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1L2&submit=Quick%0D%14487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1L2 rs12423750 0.184904 0 0.2110 1 0 0 exonic exonic exonic GLIPR1L2 GLIPR1L2 ENSG00000180481 synonymous SNV synonymous SNV unknown GLIPR1L2:NM_001270396:exon6:c.G987A:p.E329E, GLIPR1L2:uc001sxr.2:exon6:c.G987A:p.E329E,GLIPR1L2:uc001sxq.2:exon7:c.G666A:p.E222E, UNKNOWN Het;G>A 370;12|15 Ref Hom;G>A 970;2|34 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75825528 75825528 C G snp UTR3 *587C>G GLIPR1L2 Glipr1l2 ENSG00000180481 GLI pathogenesis related 1 like 2 chr12:75784850-75826468 This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1L2 https://www.ncbi.nlm.nih.gov/omim/?term=610394 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1L2&submit=Quick%0D%14487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1L2 rs1909977 0.184904 0 0 1 0 0 UTR3 UTR3 UTR3 GLIPR1L2(NM_001270396:c.*587C>G) GLIPR1L2(uc001sxq.2:c.*587C>G,uc001sxr.2:c.*587C>G) ENSG00000180481(ENST00000550916:c.*587C>G,ENST00000435775:c.*1011C>G,ENST00000378692:c.*587C>G,ENST00000441218:c.*587C>G) Na Na Na Na Na Na Het;C>G 772;47|28 Ref Hom;C>G 2339;0|73 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75889601 75889601 T C snp intronic GLIPR1 Glipr1 ENSG00000139278 GLI pathogenesis related 1 chr12:75874460-75897633 This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; monocyte chemoattractant protein 1 (66-77) Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. Neutrophil degranulation GO:0019216;regulation of lipid metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1 https://www.uniprot.org/uniprot/P48060 https://www.ncbi.nlm.nih.gov/omim/?term=602692 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1&submit=Quick%0D%7863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1 rs12819511 0.271965 0 0 1 0 0 intronic intronic intronic GLIPR1 GLIPR1 ENSG00000139278 Na Na Na Na Na Na Het;T>C 36;3|2 Ref Hom;T>C 142;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75893478 75893479 CA C indel UTR3 *111_*110delinsG KRR1 Krr1 ENSG00000111615 KRR1, small subunit processome component homolog chr12:75890684-75905416 monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRR1 https://www.uniprot.org/uniprot/Q13601 https://www.ncbi.nlm.nih.gov/omim/?term=612817 http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1 rs35207358 0.459864 0 0 1 0 0 UTR3 UTR3 UTR3 GLIPR1(NM_006851:c.*720_*721delinsC),KRR1(NM_007043:c.*111_*110delinsG) GLIPR1(uc001sxs.3:c.*720_*721delinsC),KRR1(uc001sxt.3:c.*111_*110delinsG,uc009zsc.3:c.*111_*110delinsG) ENSG00000111615(ENST00000229214:c.*111_*110delinsG),ENSG00000139278(ENST00000266659:c.*720_*721delinsC) Na Na Na Na Na Na Het;-A 666;4|17 Ref Hom;-A 1726;0|37 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75893486 75893486 A G snp UTR3 *103T>C KRR1 Krr1 ENSG00000111615 KRR1, small subunit processome component homolog chr12:75890684-75905416 monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRR1 https://www.uniprot.org/uniprot/Q13601 https://www.ncbi.nlm.nih.gov/omim/?term=612817 http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1 rs1056900 0.232228 0 0 1 0 0 UTR3 UTR3 UTR3 GLIPR1(NM_006851:c.*728A>G),KRR1(NM_007043:c.*103T>C) GLIPR1(uc001sxs.3:c.*728A>G),KRR1(uc001sxt.3:c.*103T>C,uc009zsc.3:c.*103T>C) ENSG00000111615(ENST00000229214:c.*103T>C),ENSG00000139278(ENST00000266659:c.*728A>G) Na Na Na Na Na Na Het;A>G 558;7|18 Ref Hom;A>G 1868;0|44 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75895619 75895619 T C snp UTR3 *2861T>C GLIPR1 Glipr1 ENSG00000139278 GLI pathogenesis related 1 chr12:75874460-75897633 This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; monocyte chemoattractant protein 1 (66-77) Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. Neutrophil degranulation GO:0019216;regulation of lipid metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1 https://www.uniprot.org/uniprot/P48060 https://www.ncbi.nlm.nih.gov/omim/?term=602692 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1&submit=Quick%0D%7863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1 rs2306391 0.244409 0.2455 0.2670 1 0 0 UTR3 UTR3 UTR3 GLIPR1(NM_006851:c.*2861T>C) GLIPR1(uc001sxs.3:c.*2861T>C) ENSG00000139278(ENST00000266659:c.*2861T>C) Na Na Na Na Na Na Het;T>C 1613;54|61 Ref Hom;T>C 6313;0|224 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75900382 75900382 C T snp nonsynonymous SNV G401A R134Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral KRR1 Krr1 ENSG00000111615 KRR1, small subunit processome component homolog chr12:75890684-75905416 monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRR1 https://www.uniprot.org/uniprot/Q13601 https://www.ncbi.nlm.nih.gov/omim/?term=612817 http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1 rs11540407 0.232029 0.2327 0.2540 0.77 10 13 exonic exonic exonic KRR1 KRR1 ENSG00000111615 nonsynonymous SNV nonsynonymous SNV unknown KRR1:NM_007043:exon4:c.G401A:p.R134Q, KRR1:uc009zsc.3:exon4:c.G401A:p.R134Q,KRR1:uc010stx.2:exon4:c.G401A:p.R134Q,KRR1:uc001sxt.3:exon4:c.G401A:p.R134Q, UNKNOWN Het;C>T 204;13|11 Ref Hom;C>T 640;0|23 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75900588 75900588 A G snp synonymous SNV T367C L123L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KRR1 Krr1 ENSG00000111615 KRR1, small subunit processome component homolog chr12:75890684-75905416 monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRR1 https://www.uniprot.org/uniprot/Q13601 https://www.ncbi.nlm.nih.gov/omim/?term=612817 http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1 rs2070162 0.232228 0.2340 0.2552 1 0 0 exonic exonic exonic KRR1 KRR1 ENSG00000111615 synonymous SNV synonymous SNV unknown KRR1:NM_007043:exon3:c.T367C:p.L123L, KRR1:uc009zsc.3:exon3:c.T367C:p.L123L,KRR1:uc010stx.2:exon3:c.T367C:p.L123L,KRR1:uc001sxt.3:exon3:c.T367C:p.L123L, UNKNOWN Het;A>G 657;39|31 Ref Hom;A>G 4058;0|143 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 75994963 75994963 T A snp ncRNA_exonic AC022507.1 rs7316871 0.881789 0 0 1 0 0 intergenic intergenic ncRNA_exonic KRR1(dist=89545),PHLDA1(dist=424264) KRR1(dist=89545),SNORA70(dist=87960) ENSG00000257777 Na Na Na Na Na Na Het;T>A 327;2|14 Ref Hom;T>A 108;0|5 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76055225 76055225 C T snp ncRNA_intronic AC078923.1 rs1806614 0.649161 0 0 1 0 0 intergenic intergenic ncRNA_intronic KRR1(dist=149807),PHLDA1(dist=364002) KRR1(dist=149807),SNORA70(dist=27698) ENSG00000258077 Na Na Na Na Na Na Het;C>T 181;5|7 Ref Hom;C>T 262;0|9 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76444510 76444510 G A snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs4831914 0.585863 0 0 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;G>A 190;3|8 Ref Hom;G>A 174;0|6 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76447792 76447793 AT A indel intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs35076461 0.875998 0 0 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;-T 111;13|8 Het;-T 246;14|14 Hom;-T 755;0|30 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76449900 76449900 T C snp synonymous SNV A471G K157K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs1059143 0.920128 0.8571 0.8650 1 0 0 exonic exonic exonic NAP1L1 NAP1L1 ENSG00000187109 synonymous SNV synonymous SNV unknown NAP1L1:NM_139207:exon7:c.A471G:p.K157K,NAP1L1:NM_004537:exon7:c.A471G:p.K157K, NAP1L1:uc010sua.1:exon7:c.A471G:p.K157K,NAP1L1:uc001syb.3:exon7:c.A471G:p.K157K,NAP1L1:uc010sty.1:exon6:c.A342G:p.K114K,NAP1L1:uc001sxx.2:exon7:c.A471G:p.K157K,NAP1L1:uc001sxw.2:exon7:c.A471G:p.K157K,NAP1L1:uc001sxz.2:exon5:c.A264G:p.K88K, UNKNOWN Het;T>C 221;7|8 Het;T>C 491;18|21 Hom;T>C 652;0|20 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76451696 76451696 T C snp ncRNA_exonic AC011611.5 rs2163913 0.751398 0 0 1 0 0 intronic intronic ncRNA_exonic NAP1L1 NAP1L1 ENSG00000257941 Na Na Na Na Na Na Het;T>C 186;7|7 Het;T>C 126;2|5 Hom;T>C 287;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76451973 76451973 A T snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs2117050 0.496805 0 0 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;A>T 299;14|14 Het;A>T 365;7|11 Hom;A>T 979;0|30 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76453861 76453861 G A snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs7956821 0.878594 0 0 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;G>A 391;23|19 Het;G>A 398;28|20 Hom;G>A 998;0|40 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76453873 76453873 C T snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs10880030 0.592053 0.5119 0.6241 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;C>T 396;24|20 Het;C>T 446;29|22 Hom;C>T 1025;0|42 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76453966 76453966 G A snp synonymous SNV C300T H100H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs4663 0.586462 0.5056 0.6214 1 0 0 exonic exonic exonic NAP1L1 NAP1L1 ENSG00000187109 synonymous SNV synonymous SNV unknown NAP1L1:NM_139207:exon5:c.C300T:p.H100H,NAP1L1:NM_004537:exon5:c.C300T:p.H100H, NAP1L1:uc010sua.1:exon5:c.C300T:p.H100H,NAP1L1:uc001syb.3:exon5:c.C300T:p.H100H,NAP1L1:uc010sty.1:exon4:c.C174T:p.H58H,NAP1L1:uc001sxx.2:exon5:c.C300T:p.H100H,NAP1L1:uc001sxw.2:exon5:c.C300T:p.H100H,NAP1L1:uc001sxz.2:exon4:c.C174T:p.H58H, UNKNOWN Het;G>A 362;23|17 Het;G>A 572;12|24 Hom;G>A 1070;0|40 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76461137 76461137 T C snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs10785227 0.601038 0.5191 0.6254 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;T>C 808;29|22 Het;T>C 1064;21|27 Hom;T>C 3137;0|68 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76461145 76461145 C T snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs7972289 0.84984 0.7861 0.8367 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;C>T 818;33|23 Het;C>T 1080;23|30 Hom;C>T 3316;0|78 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76462612 76462612 T C snp intronic NAP1L1 Nap1l1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 rs10880034 0.60004 0 0 1 0 0 intronic intronic intronic NAP1L1 NAP1L1 ENSG00000187109 Na Na Na Na Na Na Het;T>C 394;8|13 Het;T>C 100;9|4 Hom;T>C 907;0|25 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76738542 76738542 G A snp UTR3 *1051C>T BBS10 Bbs10 ENSG00000179941 Bardet-Biedl syndrome 10 chr12:76738254-76742222 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] Retinal Diseases Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells. BBSome-mediated cargo-targeting to cilium GO:0001895;retina homeostasis;IMP|GO:0007601;visual perception;IEA|GO:0043254;regulation of protein complex assembly;IMP|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0051131;chaperone-mediated protein complex assembly;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BBS10 https://hpo.jax.org/app/browse/search?q=BBS10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610148 http://www.informatics.jax.org/searchtool/Search.do?query=BBS10&submit=Quick%0D%14412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS10 rs3087711 0.84405 0 0 1 0 0 UTR3 UTR3 UTR3 BBS10(NM_024685:c.*1051C>T) BBS10(uc001syd.1:c.*1051C>T) ENSG00000179941(ENST00000393262:c.*1051C>T) Na Na Na Na Na Na Het;G>A 661;27|28 Ref Hom;G>A 2579;0|97 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 76763092 76763092 G GA indel intronic OSBPL8 Osbpl8 ENSG00000091039 oxysterol binding protein like 8 chr12:76745577-76953589 This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Tobacco Use Disorder Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. Acyl chain remodelling of PS GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010891;negative regulation of sequestering of triglyceride;IDA|GO:0015914;phospholipid transport;IDA|GO:0030336;negative regulation of cell migration;IEA|GO:0032148;activation of protein kinase B activity;ISS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0045444;fat cell differentiation;IDA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0051897;positive regulation of protein kinase B signaling;ISS|GO:0090204;protein localization to nuclear pore;IEA|GO:2001275;positive regulation of glucose import in response to insulin stimulus;ISS GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0001786;phosphatidylserine binding;IDA|GO:0005548;phospholipid transporter activity;TAS|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/OSBPL8 https://www.uniprot.org/uniprot/Q9BZF1 https://www.ncbi.nlm.nih.gov/omim/?term=606736 http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL8&submit=Quick%0D%2131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL8 rs11459293 0.436502 0.3676 0.4463 1 0 0 intronic intronic intronic OSBPL8 OSBPL8 ENSG00000091039 Na Na Na Na Na Na Het;+A 2357;31|116 Het;+A 907;70|58 Hom;+A 2712;18|131 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 77239380 77239381 TA T indel intronic ZDHHC17 Zdhhc17 ENSG00000186908 zinc finger DHHC-type containing 17 chr12:77157368-77247476 Huntington's disease Mice homozygous for a knock-out allele exhibit reminiscent of Huntington disease (decreased body weight, impaired coordination, hyperactivity, increased rearing, decreased prepulse inhibition, increased stereotypic behavior, reduced striatum, and decreased brain weight). GO:0007165;signal transduction;IEA|GO:0018345;protein palmitoylation;IDA|GO:0042953;lipoprotein transport;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1903830;magnesium ion transmembrane transport;IEA GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0015095;magnesium ion transmembrane transporter activity;IDA|GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC17 https://www.ncbi.nlm.nih.gov/omim/?term=607799 http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC17&submit=Quick%0D%15735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC17 rs375219435 0.00419329 0 0 1 0 0 intronic intronic intronic ZDHHC17 ZDHHC17 ENSG00000186908 Na Na Na Na Na Na Het;-A 119;6|7 Ref Hom;-A 129;0|6 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 77417975 77417976 GA G indel intronic E2F7 E2f7 ENSG00000165891 E2F transcription factor 7 chr12:77415027-77459360 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] Bone Density; Brain; Smoking; Subcutaneous Fat; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Iron; Celiac Disease|; Macular Degeneration; Atrial Natriuretic Factor; Central Nervous System; Erythrocytes; Blood Coagulation Factors; Creatinine; Blood Pressure Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001890;placenta development;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IDA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0032877;positive regulation of DNA endoreduplication;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060707;trophoblast giant cell differentiation;IEA|GO:0060718;chorionic trophoblast cell differentiation;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0016607;nuclear speck;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/E2F7 https://www.ncbi.nlm.nih.gov/omim/?term=612046 http://www.informatics.jax.org/searchtool/Search.do?query=E2F7&submit=Quick%0D%11647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F7 rs200276661 0.0107827 0.0248 0.0262 1 0 0 intronic intronic intronic E2F7 E2F7 ENSG00000165891 Na Na Na Na Na Na Het;-A 617;9|26 Ref Hom;-A 779;0|28 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 77573205 77573205 G C snp intergenic E2F7 E2f7 ENSG00000165891 E2F transcription factor 7 chr12:77415027-77459360 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] Bone Density; Brain; Smoking; Subcutaneous Fat; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Iron; Celiac Disease|; Macular Degeneration; Atrial Natriuretic Factor; Central Nervous System; Erythrocytes; Blood Coagulation Factors; Creatinine; Blood Pressure Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001890;placenta development;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IDA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0032877;positive regulation of DNA endoreduplication;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060707;trophoblast giant cell differentiation;IEA|GO:0060718;chorionic trophoblast cell differentiation;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0016607;nuclear speck;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/E2F7 https://www.ncbi.nlm.nih.gov/omim/?term=612046 http://www.informatics.jax.org/searchtool/Search.do?query=E2F7&submit=Quick%0D%11647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F7 rs771647 0.55012 0 0 1 0 0 intergenic intergenic intergenic E2F7(dist=113845),NAV3(dist=651864) E2F7(dist=113845),NAV3(dist=651864) ENSG00000238769(dist=16400),ENSG00000257677(dist=40178) Na Na Na Na Na Na Het;G>C 177;2|9 Ref Hom;G>C 219;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 77808154 77808154 G A snp ncRNA_intronic ENSG00000231121 rs11105147 0.101038 0 0 1 0 0 intergenic intergenic ncRNA_intronic E2F7(dist=348794),NAV3(dist=416915) E2F7(dist=348794),NAV3(dist=416915) ENSG00000231121 Na Na Na Na Na Na Het;G>A 326;19|17 Ref Hom;G>A 1485;0|59 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 77808196 77808196 C T snp ncRNA_intronic ENSG00000231121 rs4761379 0.478435 0 0 1 0 0 intergenic intergenic ncRNA_intronic E2F7(dist=348836),NAV3(dist=416873) E2F7(dist=348836),NAV3(dist=416873) ENSG00000231121 Na Na Na Na Na Na Het;C>T 330;18|15 Het;C>T 252;17|12 Hom;C>T 971;0|36 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78400884 78400884 G A snp synonymous SNV G1566A P522P hydrophobic,neutral hydrophobic,neutral NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs34276383 0.148562 0.1196 0.1374 1 0 0 exonic exonic exonic NAV3 NAV3 ENSG00000067798 synonymous SNV synonymous SNV unknown NAV3:NM_001024383:exon8:c.G1566A:p.P522P,NAV3:NM_014903:exon8:c.G1566A:p.P522P, NAV3:uc001syp.3:exon8:c.G1566A:p.P522P,NAV3:uc001syo.3:exon8:c.G1566A:p.P522P, UNKNOWN Het;G>A 2428;111|105 Ref Hom;G>A 5162;2|179 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78531156 78531156 A G snp intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs2290103 0.324481 0.2496 0.2963 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;A>G 568;23|22 Ref Hom;A>G 1653;0|57 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78534233 78534233 A G snp intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs1726427 0.365016 0 0 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;A>G 384;8|12 Het;A>G 401;9|13 Hom;A>G 641;0|16 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78542594 78542594 T G snp intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs444864 0.365815 0.3058 0.3832 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;T>G 1060;10|26 Het;T>G 1011;39|29 Hom;T>G 4141;0|92 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78542602 78542602 A AT indel intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs3214877 0.365615 0.3101 0.3769 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;+T 1069;15|29 Het;+T 1033;46|30 Hom;+T 4389;0|100 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78542699 78542699 T C snp synonymous SNV T4785C N1595N polar,hydrophilic,neutral polar,hydrophilic,neutral NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs366527 0.365815 0.3089 0.3615 1 0 0 exonic exonic exonic NAV3 NAV3 ENSG00000067798 synonymous SNV synonymous SNV unknown NAV3:NM_001024383:exon22:c.T4785C:p.N1595N,NAV3:NM_014903:exon22:c.T4785C:p.N1595N, NAV3:uc001syp.3:exon22:c.T4785C:p.N1595N,NAV3:uc010sub.2:exon13:c.T3243C:p.N1081N,NAV3:uc009zsf.3:exon7:c.T1278C:p.N426N,NAV3:uc001syo.3:exon22:c.T4785C:p.N1595N, UNKNOWN Het;T>C 894;35|40 Het;T>C 919;48|44 Hom;T>C 3765;0|146 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78591249 78591249 C A snp intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs981213 0.635383 0 0 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;C>A 373;12|13 Ref Hom;C>A 1536;0|53 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78593457 78593457 C T snp intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs4761326 0.634784 0 0 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;C>T 74;2|3 Ref Hom;C>T 127;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78594405 78594405 T A snp intronic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs3214044 0.582069 0 0.4323 1 0 0 intronic intronic intronic NAV3 NAV3 ENSG00000067798 Na Na Na Na Na Na Het;T>A 364;17|17 Ref Hom;T>A 2182;0|72 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 78598891 78598891 G A snp synonymous SNV G7011A P2337P hydrophobic,neutral hydrophobic,neutral NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs9971904 0.635783 0.4571 0.5258 1 0 0 exonic exonic exonic NAV3 NAV3 ENSG00000067798 synonymous SNV synonymous SNV unknown NAV3:NM_001024383:exon39:c.G7011A:p.P2337P,NAV3:NM_014903:exon38:c.G6945A:p.P2315P, NAV3:uc001syp.3:exon39:c.G7011A:p.P2337P,NAV3:uc010sub.2:exon28:c.G5382A:p.P1794P,NAV3:uc009zsf.3:exon23:c.G3438A:p.P1146P,NAV3:uc001syo.3:exon38:c.G6945A:p.P2315P, UNKNOWN Het;G>A 1279;44|58 Ref Hom;G>A 3097;0|118 N N - 12 7882002 7882010 GAATGAATA G indel downstream CLEC4C Clec4b1 ENSG00000198178 C-type lectin domain family 4 member C chr12:7882011-7904201 This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever Mice homozygous for a null allele exhibit reduced numbers of monocyte-derived inflammatory cells at mycobacterial infection sites, impaired IFN-gamma production by T cells and increased bacterial load. Neutrophil degranulation GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLEC4C https://www.ncbi.nlm.nih.gov/omim/?term=606677 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC4C&submit=Quick%0D%16839ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC4C rs141134155 0 0 0 1 0 0 downstream downstream downstream CLEC4C CLEC4C ENSG00000198178 Na Na Na Na Na Na Het;-AATGAATA 128;1|4 Ref Hom;-AATGAATA 143;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 79001477 79001477 G A snp intergenic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs1717348 0.226637 0 0 1 0 0 intergenic intergenic intergenic NAV3(dist=394685),SYT1(dist=256296) BC047615(dist=116183),SYT1(dist=256296) ENSG00000257165(dist=67022),ENSG00000257564(dist=185829) Na Na Na Na Na Na Het;G>A 173;3|5 Ref Hom;G>A 447;0|11 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 79001478 79001478 C T snp intergenic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs1795973 0.226637 0 0 1 0 0 intergenic intergenic intergenic NAV3(dist=394686),SYT1(dist=256295) BC047615(dist=116184),SYT1(dist=256295) ENSG00000257165(dist=67023),ENSG00000257564(dist=185828) Na Na Na Na Na Na Het;C>T 173;3|5 Ref Hom;C>T 447;0|10 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 79053567 79053567 T A snp intergenic NAV3 Nav3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 rs7964901 0.253395 0 0 1 0 0 intergenic intergenic intergenic NAV3(dist=446775),SYT1(dist=204206) BC047615(dist=168273),SYT1(dist=204206) ENSG00000257165(dist=119112),ENSG00000257564(dist=133739) Na Na Na Na Na Na Het;T>A 335;37|20 Ref Hom;T>A 1057;0|41 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 79701964 79701964 A G snp intronic SYT1 Syt1 ENSG00000067715 synaptotagmin 1 chr12:79257773-79845788 The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] Exercise Test; Epilepsy|Mental Retardation; Cholesterol, HDL; Lipids; Body Weight; Body Mass Index; serum creatinine; Respiratory Function Tests; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Life Expectancy Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. GABA synthesis, release, reuptake and degradation GO:0005513;detection of calcium ion;TAS|GO:0006906;vesicle fusion;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007420;brain development;IEA|GO:0014047;glutamate secretion;TAS|GO:0014059;regulation of dopamine secretion;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0031340;positive regulation of vesicle fusion;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IEA|GO:0048278;vesicle docking;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;ISS|GO:0061024;membrane organization;TAS|GO:0071277;cellular response to calcium ion;ISS|GO:0098746;fast, calcium ion-dependent exocytosis of neurotransmitter;ISS|GO:1903305;regulation of regulated secretory pathway;ISS|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;IEA|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031045;dense core granule;IEA|GO:0031201;SNARE complex;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;ISS|GO:0043195;terminal bouton;IEA|GO:0043229;intracellular organelle;IEA|GO:0044306;neuron projection terminus;IEA|GO:0045202;synapse;IEA|GO:0060076;excitatory synapse;IEA|GO:0060201;clathrin-sculpted acetylcholine transport vesicle membrane;TAS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS GO:0000149;SNARE binding;ISS|GO:0001786;phosphatidylserine binding;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0005544;calcium-dependent phospholipid binding;ISS|GO:0005545;1-phosphatidylinositol binding;TAS|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0008022;protein C-terminus binding;IEA|GO:0017075;syntaxin-1 binding;TAS|GO:0019905;syntaxin binding;IEA|GO:0030276;clathrin binding;IBA|GO:0030348;syntaxin-3 binding;IEA|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0050750;low-density lipoprotein particle receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SYT1 https://www.uniprot.org/uniprot/P21579 https://hpo.jax.org/app/browse/search?q=SYT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=185605 http://www.informatics.jax.org/searchtool/Search.do?query=SYT1&submit=Quick%0D%1262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT1 rs11113612 0.390575 0 0 1 0 0 intronic intronic intronic SYT1 SYT1 ENSG00000067715 Na Na Na Na Na Na Het;A>G 120;12|7 Ref Hom;A>G 360;2|15 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 79702374 79702392 GAAAGAAAGAAAGAAAGAA G indel intronic SYT1 Syt1 ENSG00000067715 synaptotagmin 1 chr12:79257773-79845788 The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] Exercise Test; Epilepsy|Mental Retardation; Cholesterol, HDL; Lipids; Body Weight; Body Mass Index; serum creatinine; Respiratory Function Tests; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Life Expectancy Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. GABA synthesis, release, reuptake and degradation GO:0005513;detection of calcium ion;TAS|GO:0006906;vesicle fusion;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007420;brain development;IEA|GO:0014047;glutamate secretion;TAS|GO:0014059;regulation of dopamine secretion;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0031340;positive regulation of vesicle fusion;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IEA|GO:0048278;vesicle docking;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;ISS|GO:0061024;membrane organization;TAS|GO:0071277;cellular response to calcium ion;ISS|GO:0098746;fast, calcium ion-dependent exocytosis of neurotransmitter;ISS|GO:1903305;regulation of regulated secretory pathway;ISS|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;IEA|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031045;dense core granule;IEA|GO:0031201;SNARE complex;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;ISS|GO:0043195;terminal bouton;IEA|GO:0043229;intracellular organelle;IEA|GO:0044306;neuron projection terminus;IEA|GO:0045202;synapse;IEA|GO:0060076;excitatory synapse;IEA|GO:0060201;clathrin-sculpted acetylcholine transport vesicle membrane;TAS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS GO:0000149;SNARE binding;ISS|GO:0001786;phosphatidylserine binding;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0005544;calcium-dependent phospholipid binding;ISS|GO:0005545;1-phosphatidylinositol binding;TAS|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0008022;protein C-terminus binding;IEA|GO:0017075;syntaxin-1 binding;TAS|GO:0019905;syntaxin binding;IEA|GO:0030276;clathrin binding;IBA|GO:0030348;syntaxin-3 binding;IEA|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0050750;low-density lipoprotein particle receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SYT1 https://www.uniprot.org/uniprot/P21579 https://hpo.jax.org/app/browse/search?q=SYT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=185605 http://www.informatics.jax.org/searchtool/Search.do?query=SYT1&submit=Quick%0D%1262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT1 Na 0 0 0 1 0 0 intronic intronic intronic SYT1 SYT1 ENSG00000067715 Na Na Na Na Na Na Het;-AAAGAAAGAAAGAAAGAA 162;14|6 Ref Hom;-AAAGAAAGAAAGAAAGAA 84;0|3 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80647155 80647155 A G snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs10862083 0.77496 0 0 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;A>G 385;8|12 Het;A>G 480;19|18 Hom;A>G 602;0|17 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80650276 80650276 T TCAAA indel intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs147846753 0.502596 0 0.4080 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;+CAAA 450;2|12 Ref Hom;+CAAA 1875;0|43 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80665397 80665397 A G snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs4483657 0.740615 0.7184 0.7715 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;A>G 483;17|16 Het;A>G 215;14|8 Hom;A>G 679;0|20 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80690919 80690919 T C snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs4842345 0.131589 0 0 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;T>C 237;3|7 Ref Hom;T>C 249;0|7 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80707153 80707153 C T snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs1037335 0.564097 0 0 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;C>T 309;11|11 Het;C>T 208;4|9 Hom;C>T 448;0|15 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80712519 80712519 T A snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs150039178 0.00499201 0.0024 0.0064 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;T>A 187;4|7 Ref Hom;T>A 502;0|16 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80730466 80730466 G A snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs73137398 0.116014 0 0 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;G>A 175;6|7 Het;G>A 345;8|12 Hom;G>A 761;0|21 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80752660 80752660 A G snp nonsynonymous SNV A6220G I2074V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs2034528 0.964457 0.9358 0.9400 0.15 2 13 exonic exonic exonic OTOGL OTOGL ENSG00000165899 nonsynonymous SNV nonsynonymous SNV unknown OTOGL:NM_173591:exon51:c.A6220G:p.I2074V, OTOGL:uc001szd.3:exon51:c.A6220G:p.I2074V,OTOGL:uc021rba.1:exon5:c.A277G:p.I93V, UNKNOWN Het;A>G 249;11|11 Het;A>G 462;15|17 Hom;A>G 678;0|23 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80760470 80760471 GT G indel intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs34113015 0.961462 0.9312 0 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;-T 541;49|28 Het;-T 637;44|32 Hom;-T 1984;0|70 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80761465 80761465 G A snp synonymous SNV G6429A T2143T polar,hydrophilic,neutral polar,hydrophilic,neutral OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs2717482 0.96865 0.9412 0.9454 1 0 0 exonic exonic exonic OTOGL OTOGL ENSG00000165899 synonymous SNV synonymous SNV unknown OTOGL:NM_173591:exon53:c.G6429A:p.T2143T, OTOGL:uc001szd.3:exon53:c.G6429A:p.T2143T,OTOGL:uc009zsg.2:exon8:c.G69A:p.T23T,OTOGL:uc021rba.1:exon7:c.G486A:p.T162T, UNKNOWN Het;G>A 1344;54|62 Het;G>A 1271;76|65 Hom;G>A 4258;0|157 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80765741 80765741 C T snp intronic OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs1037336 0.961661 0.9272 0 1 0 0 intronic intronic intronic OTOGL OTOGL ENSG00000165899 Na Na Na Na Na Na Het;C>T 1094;44|46 Het;C>T 1115;35|46 Hom;C>T 3062;0|107 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80904143 80904143 T C snp nonsynonymous SNV T2083C S695P polar,hydrophilic,neutral hydrophobic,neutral PTPRQ Ptprq ENSG00000139304 protein tyrosine phosphatase, receptor type Q chr12:80799774-81072802 This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] Erythrocyte Indices; Electrocardiography; Uric Acid; Bipolar Disorder; Tobacco Use Disorder; Exercise Test Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060116;vestibular receptor cell morphogenesis;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032421;stereocilium bundle;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRQ https://www.uniprot.org/uniprot/Q9UMZ3 https://hpo.jax.org/app/browse/search?q=PTPRQ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603317 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRQ&submit=Quick%0D%7868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRQ rs143156047 0.00119808 0.0024 0.0022 0.75 6 8 exonic exonic exonic PTPRQ PTPRQ ENSG00000139304 nonsynonymous SNV nonsynonymous SNV unknown PTPRQ:NM_001145026:exon14:c.T2083C:p.S695P, PTPRQ:uc001sze.2:exon14:c.T2083C:p.S695P, UNKNOWN Het;T>C 1719;91|80 Ref Hom;T>C 7432;0|285 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 80935300 80935300 A T snp intronic PTPRQ Ptprq ENSG00000139304 protein tyrosine phosphatase, receptor type Q chr12:80799774-81072802 This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] Erythrocyte Indices; Electrocardiography; Uric Acid; Bipolar Disorder; Tobacco Use Disorder; Exercise Test Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060116;vestibular receptor cell morphogenesis;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032421;stereocilium bundle;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRQ https://www.uniprot.org/uniprot/Q9UMZ3 https://hpo.jax.org/app/browse/search?q=PTPRQ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603317 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRQ&submit=Quick%0D%7868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRQ rs11114502 0.473842 0.5548 0.5952 1 0 0 intronic intronic intronic PTPRQ PTPRQ ENSG00000139304 Na Na Na Na Na Na Het;A>T 332;16|13 Het;A>T 297;15|13 Hom;A>T 910;0|30 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 81329536 81329536 A C snp ncRNA_exonic MIR618 rs2682818 0.757588 0.8086 0.8258 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR618 MIR618 ENSG00000208022 Na Na Na Na Na Na Het;A>C 120;17|8 Ref Hom;A>C 457;0|19 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 81627238 81627238 C T snp synonymous SNV C1707T G569G aliphatic,neutral aliphatic,neutral ACSS3 Acss3 ENSG00000111058 acyl-CoA synthetase short chain family member 3 chr12:81331594-81650533 Tobacco Use Disorder; Mental Competency; Kidney Diseases; Body Mass Index; Creatinine; Body Height Synthesis of Ketone Bodies GO:0008152;metabolic process;IEA|GO:0046951;ketone body biosynthetic process;TAS GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003987;acetate-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSS3 https://www.uniprot.org/uniprot/Q9H6R3 https://www.ncbi.nlm.nih.gov/omim/?term=614356 http://www.informatics.jax.org/searchtool/Search.do?query=ACSS3&submit=Quick%0D%4026ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSS3 rs1921038 0.176917 0.1824 0.1899 1 0 0 exonic exonic exonic ACSS3 ACSS3 ENSG00000111058 synonymous SNV synonymous SNV unknown ACSS3:NM_024560:exon13:c.C1707T:p.G569G, ACSS3:uc001szl.1:exon13:c.C1707T:p.G569G,ACSS3:uc001szm.1:exon13:c.C1704T:p.G568G,ACSS3:uc001szn.1:exon8:c.C753T:p.G251G, UNKNOWN Het;C>T 339;34|17 Ref Hom;C>T 4126;0|150 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 81653313 81653313 C G snp UTR3 *160G>C PPFIA2 Ppfia2 ENSG00000139220 PTPRF interacting protein alpha 2 chr12:81652045-82153332 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Aorta; Respiratory Function Tests; Asthma; Hip; Sodium; Tobacco Use Disorder; Triglycerides; Diabetes Mellitus Receptor-type tyrosine-protein phosphatases GO:0007160;cell-matrix adhesion;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPFIA2 https://www.uniprot.org/uniprot/O75334 https://www.ncbi.nlm.nih.gov/omim/?term=603143 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA2&submit=Quick%0D%7857ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA2 rs11114808 0.177117 0 0 1 0 0 UTR3 UTR3 UTR3 PPFIA2(NM_001220473:c.*98G>C,NM_001220479:c.*98G>C,NM_003625:c.*160G>C,NM_001220478:c.*160G>C,NM_001220480:c.*160G>C,NM_001220476:c.*160G>C,NM_001220477:c.*160G>C,NM_001220475:c.*160G>C,NM_001282536:c.*160G>C,NM_001220474:c.*98G>C) PPFIA2(uc031qih.1:c.*98G>C,uc031qii.1:c.*208G>C,uc031qij.1:c.*300G>C,uc031qik.1:c.*300G>C,uc031qil.1:c.*300G>C,uc031qim.1:c.*98G>C,uc031qin.1:c.*98G>C,uc031qio.1:c.*300G>C,uc031qip.1:c.*300G>C,uc031qiq.1:c.*1193G>C,uc031qir.1:c.*208G>C,uc031qis.1:c.*300G>C) ENSG00000139220(ENST00000549396:c.*160G>C,ENST00000550584:c.*98G>C,ENST00000549325:c.*98G>C,ENST00000541570:c.*98G>C,ENST00000541017:c.*160G>C,ENST00000551461:c.*2229G>C,ENST00000550359:c.*160G>C) Na Na Na Na Na Na Het;C>G 214;10|9 Ref Hom;C>G 593;0|19 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 81655913 81655913 C T snp intronic PPFIA2 Ppfia2 ENSG00000139220 PTPRF interacting protein alpha 2 chr12:81652045-82153332 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Aorta; Respiratory Function Tests; Asthma; Hip; Sodium; Tobacco Use Disorder; Triglycerides; Diabetes Mellitus Receptor-type tyrosine-protein phosphatases GO:0007160;cell-matrix adhesion;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPFIA2 https://www.uniprot.org/uniprot/O75334 https://www.ncbi.nlm.nih.gov/omim/?term=603143 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA2&submit=Quick%0D%7857ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA2 rs10862276 0.193091 0 0 1 0 0 intronic intronic intronic PPFIA2 PPFIA2 ENSG00000139220 Na Na Na Na Na Na Het;C>T 75;17|5 Ref Hom;C>T 588;0|19 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 81672956 81672956 T A snp ncRNA_intronic PPFIA2-AS1 rs1921030 0.603834 0 0 1 0 0 intronic intronic ncRNA_intronic PPFIA2 PPFIA2 ENSG00000257467 Na Na Na Na Na Na Het;T>A 480;28|23 Ref Hom;T>A 1612;1|62 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 81769581 81769581 C T snp synonymous SNV G828A L276L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PPFIA2 Ppfia2 ENSG00000139220 PTPRF interacting protein alpha 2 chr12:81652045-82153332 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Aorta; Respiratory Function Tests; Asthma; Hip; Sodium; Tobacco Use Disorder; Triglycerides; Diabetes Mellitus Receptor-type tyrosine-protein phosphatases GO:0007160;cell-matrix adhesion;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPFIA2 https://www.uniprot.org/uniprot/O75334 https://www.ncbi.nlm.nih.gov/omim/?term=603143 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA2&submit=Quick%0D%7857ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA2 rs10862301 0.445687 0.3197 0.3612 1 0 0 exonic exonic exonic PPFIA2 PPFIA2 ENSG00000139220 synonymous SNV synonymous SNV unknown PPFIA2:NM_001220478:exon6:c.G828A:p.L276L,PPFIA2:NM_001220476:exon9:c.G1125A:p.L375L,PPFIA2:NM_001282536:exon7:c.G666A:p.L222L,PPFIA2:NM_003625:exon10:c.G1125A:p.L375L,PPFIA2:NM_001220473:exon9:c.G1125A:p.L375L,PPFIA2:NM_001220474:exon8:c.G1071A:p.L357L,PPFIA2:NM_001220477:exon7:c.G903A:p.L301L,PPFIA2:NM_001220475:exon9:c.G1125A:p.L375L, PPFIA2:uc031qip.1:exon9:c.G1125A:p.L375L,PPFIA2:uc031qio.1:exon9:c.G1125A:p.L375L,PPFIA2:uc031qiw.1:exon8:c.G1125A:p.L375L,PPFIA2:uc031qis.1:exon10:c.G1125A:p.L375L,PPFIA2:uc031qir.1:exon9:c.G1125A:p.L375L,PPFIA2:uc031qiy.1:exon8:c.G1125A:p.L375L,PPFIA2:uc031qik.1:exon7:c.G903A:p.L301L,PPFIA2:uc031qix.1:exon8:c.G1125A:p.L375L,PPFIA2:uc031qiv.1:exon6:c.G828A:p.L276L,PPFIA2:uc031qiq.1:exon8:c.G1071A:p.L357L,PPFIA2:uc031qiu.1:exon7:c.G903A:p.L301L,PPFIA2:uc010sue.2:exon8:c.G825A:p.L275L,PPFIA2:uc031qin.1:exon7:c.G1071A:p.L357L,PPFIA2:uc031qim.1:exon8:c.G1125A:p.L375L,PPFIA2:uc031qil.1:exon6:c.G828A:p.L276L, UNKNOWN Het;C>T 993;33|45 Ref Hom;C>T 2789;2|103 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 82751100 82751100 G A snp intronic CCDC59 Ccdc59 ENSG00000133773 coiled-coil domain containing 59 chr12:82617460-82752584 Sodium Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0044267;cellular protein metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC59 https://www.uniprot.org/uniprot/Q9P031 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC59&submit=Quick%0D%6868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC59 rs10506870 0.014377 0.0329 0.0298 1 0 0 intronic intronic intronic CCDC59 CCDC59 ENSG00000133773 Na Na Na Na Na Na Het;G>A 873;47|34 Ref Hom;G>A 2407;0|79 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 83080737 83080737 C T snp UTR5 -629C>T TMTC2 Tmtc2 ENSG00000179104 transmembrane and tetratricopeptide repeat containing 2 chr12:83080659-83528649 The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Tobacco Use Disorder; Inflammatory Bowel Diseases; Prostatic Neoplasms; Body Mass Index; Hip; Glaucoma, Open-Angle GO:0055074;calcium ion homeostasis;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMTC2 https://www.ncbi.nlm.nih.gov/omim/?term=615856 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC2&submit=Quick%0D%14292ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC2 rs74106267 0.206869 0 0 1 0 0 upstream upstream UTR5 TMTC2 TMTC2 ENSG00000179104(ENST00000321196:c.-629C>T) Na Na Na Na Na Na Het;C>T 123;9|8 Het;C>T 193;6|10 Hom;C>T 349;0|13 N N - 12 8336011 8336011 T C snp ncRNA_intronic FAM66C rs55649908 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66C FAM66C ENSG00000226711 Na Na Na Na Na Na Het;T>C 47;12|4 Het;T>C 150;3|7 Hom;T>C 187;0|7 N N - 12 8348230 8348230 A G snp ncRNA_exonic FAM66C rs12368250 0.408546 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic FAM66C FAM66C ENSG00000226711 Na Na Na Na Na Na Het;A>G 72;2|3 Ref Hom;A>G 141;0|4 N N - 12 8381841 8381841 T C snp ncRNA_intronic ALG1L10P rs28549167 0.563898 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAM90A1(dist=1627),FAM86FP(dist=1804) FAM90A1(dist=1627),FAM86FP(dist=1804) ENSG00000254016 Na Na Na Na Na Na Het;T>C 431;10|14 Het;T>C 468;3|15 Hom;T>C 99;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 84525723 84525723 T C snp intergenic TMTC2 Tmtc2 ENSG00000179104 transmembrane and tetratricopeptide repeat containing 2 chr12:83080659-83528649 The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Tobacco Use Disorder; Inflammatory Bowel Diseases; Prostatic Neoplasms; Body Mass Index; Hip; Glaucoma, Open-Angle GO:0055074;calcium ion homeostasis;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMTC2 https://www.ncbi.nlm.nih.gov/omim/?term=615856 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC2&submit=Quick%0D%14292ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC2 rs10862824 0.507588 0 0 1 0 0 intergenic intergenic intergenic TMTC2(dist=997656),SLC6A15(dist=727544) TMTC2(dist=997656),SLC6A15(dist=727544) ENSG00000257124(dist=470225),ENSG00000221148(dist=51380) Na Na Na Na Na Na Het;T>C 69;10|5 Het;T>C 105;6|5 Hom;T>C 360;0|15 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 84525754 84525754 C T snp intergenic TMTC2 Tmtc2 ENSG00000179104 transmembrane and tetratricopeptide repeat containing 2 chr12:83080659-83528649 The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Tobacco Use Disorder; Inflammatory Bowel Diseases; Prostatic Neoplasms; Body Mass Index; Hip; Glaucoma, Open-Angle GO:0055074;calcium ion homeostasis;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMTC2 https://www.ncbi.nlm.nih.gov/omim/?term=615856 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC2&submit=Quick%0D%14292ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC2 rs10779075 0.591653 0 0 1 0 0 intergenic intergenic intergenic TMTC2(dist=997687),SLC6A15(dist=727513) TMTC2(dist=997687),SLC6A15(dist=727513) ENSG00000257124(dist=470256),ENSG00000221148(dist=51349) Na Na Na Na Na Na Het;C>T 97;13|6 Het;C>T 261;10|11 Hom;C>T 504;0|19 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 85257445 85257445 A G snp intronic SLC6A15 Slc6a15 ENSG00000072041 solute carrier family 6 member 15 chr12:85253492-85307394 This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. Na+/Cl- dependent neurotransmitter transporters GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015804;neutral amino acid transport;IDA|GO:0015820;leucine transport;IEA|GO:0015824;proline transport;IEA|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005298;proline:sodium symporter activity;IEA|GO:0005326;neurotransmitter transporter activity;NAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A15 https://www.uniprot.org/uniprot/Q9H2J7 https://www.ncbi.nlm.nih.gov/omim/?term=607971 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A15&submit=Quick%0D%1414ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A15 rs3782370 0.190695 0 0 1 0 0 intronic intronic intronic SLC6A15 SLC6A15 ENSG00000072041 Na Na Na Na Na Na Het;A>G 296;13|13 Ref Hom;A>G 273;0|9 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 86094787 86094787 A T snp intergenic ALX1 Alx1 ENSG00000180318 ALX homeobox 1 chr12:85673885-85695562 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] Spinal Dysraphism; Lipoproteins, HDL Homozygous mutant mice exhibit perinatal lethality with acrania and meroanencephaly, but the neural tube closure defect can be ameliorated with prenatal folic acid treatment. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001502;cartilage condensation;TAS|GO:0001755;neural crest cell migration;IEA|GO:0001843;neural tube closure;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0014031;mesenchymal cell development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALX1 https://hpo.jax.org/app/browse/search?q=ALX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601527 http://www.informatics.jax.org/searchtool/Search.do?query=ALX1&submit=Quick%0D%14461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALX1 rs10400481 0.927117 0 0 1 0 0 intergenic intergenic intergenic ALX1(dist=399226),RASSF9(dist=103544) ALX1(dist=399226),RASSF9(dist=103544) ENSG00000263449(dist=53689),ENSG00000258206(dist=80883) Na Na Na Na Na Na Het;A>T 87;7|5 Ref Hom;A>T 451;0|11 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 86094788 86094788 A T snp intergenic ALX1 Alx1 ENSG00000180318 ALX homeobox 1 chr12:85673885-85695562 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] Spinal Dysraphism; Lipoproteins, HDL Homozygous mutant mice exhibit perinatal lethality with acrania and meroanencephaly, but the neural tube closure defect can be ameliorated with prenatal folic acid treatment. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001502;cartilage condensation;TAS|GO:0001755;neural crest cell migration;IEA|GO:0001843;neural tube closure;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0014031;mesenchymal cell development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALX1 https://hpo.jax.org/app/browse/search?q=ALX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601527 http://www.informatics.jax.org/searchtool/Search.do?query=ALX1&submit=Quick%0D%14461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALX1 rs11116980 0.927117 0 0 1 0 0 intergenic intergenic intergenic ALX1(dist=399227),RASSF9(dist=103543) ALX1(dist=399227),RASSF9(dist=103543) ENSG00000263449(dist=53690),ENSG00000258206(dist=80882) Na Na Na Na Na Na Het;A>T 87;7|5 Ref Hom;A>T 451;0|11 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 86272378 86272378 A T snp intronic NTS Nts ENSG00000133636 neurotensin chr12:86268073-86276770 This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014] schizophrenia; Restless Legs Syndrome|Tourette Syndrome; Bulimia; bipolar disorder; several psychiatric disorders Mice homozygous for a targeted null mutation are viable, fertile, and grossly normal, but display altered responses to antipsychotic drugs. G alpha (q) signalling events GO:0007165;signal transduction;NAS|GO:0050880;regulation of blood vessel size;IEA GO:0005576;extracellular region;IEA|GO:0030133;transport vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043679;axon terminus;IBA GO:0005184;neuropeptide hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NTS https://www.uniprot.org/uniprot/P30990 https://www.ncbi.nlm.nih.gov/omim/?term=162650 http://www.informatics.jax.org/searchtool/Search.do?query=NTS&submit=Quick%0D%6851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTS rs58553548 0.192093 0.2690 0.2160 1 0 0 intronic intronic intronic NTS NTS ENSG00000133636 Na Na Na Na Na Na Het;A>T 390;13|19 Ref Hom;A>T 1545;0|59 N N - 12 863517 863517 G A snp intronic WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs3858703 0.636182 0.6108 0.6821 1 0 0 intronic intronic intronic WNK1 WNK1 ENSG00000060237 Na Na Na Na Na Na Het;G>A 705;59|32 Het;G>A 602;17|26 Hom;G>A 2500;0|94 N N - 12 86364 86364 T C snp ncRNA_intronic AC215219.1 rs373124432 0 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC100288778 DKFZp434K1323,LOC100288778 ENSG00000226210 Na Na Na Na Na Na Het;T>C 630;10|24 Ref Hom;T>C 709;1|29 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 86428350 86428350 G GT indel intronic MGAT4C Mgat4c ENSG00000283530 MGAT4 family member C chr12:86372516-87232681 Heart Rate; Blood Cells; Diabetes Mellitus; Apolipoproteins B; Cholesterol; Tobacco Use Disorder; Body Height; Celiac Disease| N-Glycan antennae elongation GO:0005975;carbohydrate metabolic process;IEA|GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008454;alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGAT4C https://www.ncbi.nlm.nih.gov/omim/?term=607385 http://www.informatics.jax.org/searchtool/Search.do?query=MGAT4C&submit=Quick%0D%22750ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAT4C rs34885099 0.16853 0 0 1 0 0 intronic intronic intronic MGAT4C MGAT4C ENSG00000182050 Na Na Na Na Na Na Het;+T 613;11|28 Ref Hom;+T 2147;0|77 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 87133120 87133120 G T snp ncRNA_intronic AC010196.1 rs17014163 0.428914 0 0 1 0 0 intronic intronic ncRNA_intronic MGAT4C MGAT4C ENSG00000258185 Na Na Na Na Na Na Het;G>T 78;2|3 Ref Hom;G>T 928;0|32 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 87332490 87332490 G T snp intergenic MGAT4C Mgat4c ENSG00000283530 MGAT4 family member C chr12:86372516-87232681 Heart Rate; Blood Cells; Diabetes Mellitus; Apolipoproteins B; Cholesterol; Tobacco Use Disorder; Body Height; Celiac Disease| N-Glycan antennae elongation GO:0005975;carbohydrate metabolic process;IEA|GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008454;alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGAT4C https://www.ncbi.nlm.nih.gov/omim/?term=607385 http://www.informatics.jax.org/searchtool/Search.do?query=MGAT4C&submit=Quick%0D%22750ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAT4C rs10777012 0.217053 0 0 1 0 0 intergenic intergenic intergenic MGAT4C(dist=99809),MKRN9P(dist=844173) MGAT4C(dist=99809),MKRN9P(dist=844173) ENSG00000258185(dist=99715),ENSG00000242850(dist=231272) Na Na Na Na Na Na Het;G>T 901;33|39 Ref Hom;G>T 1738;0|63 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 88214458 88214458 C T snp ncRNA_exonic AC079598.4 rs145439125 0.00359425 0 0 1 0 0 intergenic intergenic ncRNA_exonic MKRN9P(dist=35970),C12orf50(dist=159358) MKRN9P(dist=35970),C12orf50(dist=159358) ENSG00000258179 Na Na Na Na Na Na Het;C>T 418;7|18 Ref Hom;C>T 802;4|32 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 88440676 88440676 G C snp nonsynonymous SNV G712C V238L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C12orf29 4930430F08Rik ENSG00000133641 chromosome 12 open reading frame 29 chr12:88427623-88443937 GO:0002244;hematopoietic progenitor cell differentiation;IEA http://www.genecards.org/index.php?path=/Search/keyword/C12orf29 https://www.uniprot.org/uniprot/Q8N999 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf29&submit=Quick%0D%6854ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf29 rs9262 0.510583 0.4692 0.5827 0.08 1 13 exonic exonic exonic C12orf29 C12orf29 ENSG00000133641 nonsynonymous SNV nonsynonymous SNV unknown C12orf29:NM_001009894:exon6:c.G712C:p.V238L, C12orf29:uc001tao.3:exon6:c.G712C:p.V238L, UNKNOWN Het;G>C 1429;75|65 Ref Hom;G>C 8260;0|299 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 88546982 88546982 A G snp intronic TMTC3 Tmtc3 ENSG00000139324 transmembrane and tetratricopeptide repeat containing 3 chr12:88536073-88593664 This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010] Cobblestone lissencephaly without muscular or ocular involvement Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. GO:0034976;response to endoplasmic reticulum stress;IMP|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMTC3 https://www.uniprot.org/uniprot/Q6ZXV5 https://hpo.jax.org/app/browse/search?q=TMTC3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617218 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC3&submit=Quick%0D%7871ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC3 rs2468229 0.515575 0 0 1 0 0 intronic intronic intronic TMTC3 TMTC3 ENSG00000139324 Na Na Na Na Na Na Het;A>G 185;7|6 Ref Hom;A>G 306;0|8 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89405665 89405665 A C snp ncRNA_exonic LOC728084 rs566836535 0.000998403 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC728084 LOC728084 ENSG00000246363 Na Na Na Na Na Na Het;A>C 1109;77|49 Ref Hom;A>C 4153;2|142 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89745477 89745477 C A snp nonsynonymous SNV G340T V114L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DUSP6 Dusp6 ENSG00000139318 dual specificity phosphatase 6 chr12:89741009-89747048 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] Atrial Fibrillation; affective disorder; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; Bipolar Disorder; longevity Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. Negative regulation of MAPK pathway GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0000188;inactivation of MAPK activity;IDA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009953;dorsal/ventral pattern formation;IBA|GO:0010033;response to organic substance;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IBA|GO:0042493;response to drug;IEA|GO:0042663;regulation of endodermal cell fate specification;IBA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0051409;response to nitrosative stress;IEP|GO:0060420;regulation of heart growth;IBA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0070848;response to growth factor;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017017;MAP kinase tyrosine/serine/threonine phosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DUSP6 https://www.uniprot.org/uniprot/Q16828 https://hpo.jax.org/app/browse/search?q=DUSP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602748 http://www.informatics.jax.org/searchtool/Search.do?query=DUSP6&submit=Quick%0D%7869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP6 rs2279574 0.466254 0.4316 0.5378 0.46 6 13 exonic exonic exonic DUSP6 DUSP6 ENSG00000139318 nonsynonymous SNV nonsynonymous SNV unknown DUSP6:NM_022652:exon1:c.G340T:p.V114L,DUSP6:NM_001946:exon1:c.G340T:p.V114L, DUSP6:uc001taz.3:exon1:c.G340T:p.V114L,DUSP6:uc001tay.3:exon1:c.G340T:p.V114L, UNKNOWN Het;C>A 632;30|29 Het;C>A 390;24|20 Hom;C>A 1428;0|51 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89813410 89813410 G T snp downstream POC1B Poc1b ENSG00000139323 POC1 centriolar protein B chr12:89813495-89919801 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Pancreatic Neoplasms; Tobacco Use Disorder GO:0001895;retina homeostasis;IMP|GO:0008283;cell proliferation;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1B https://www.uniprot.org/uniprot/Q8TC44 https://hpo.jax.org/app/browse/search?q=POC1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614784 http://www.informatics.jax.org/searchtool/Search.do?query=POC1B&submit=Quick%0D%7870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1B rs78902910 0.101837 0 0 1 0 0 downstream downstream downstream POC1B POC1B ENSG00000139323 Na Na Na Na Na Na Het;G>T 153;2|5 Ref Hom;G>T 137;0|4 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89814685 89814690 ATCACT A indel UTR3 *245_*240delinsT POC1B Poc1b ENSG00000139323 POC1 centriolar protein B chr12:89813495-89919801 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Pancreatic Neoplasms; Tobacco Use Disorder GO:0001895;retina homeostasis;IMP|GO:0008283;cell proliferation;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1B https://www.uniprot.org/uniprot/Q8TC44 https://hpo.jax.org/app/browse/search?q=POC1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614784 http://www.informatics.jax.org/searchtool/Search.do?query=POC1B&submit=Quick%0D%7870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1B rs150256169 0.101837 0 0 1 0 0 UTR3 UTR3 UTR3 POC1B(NM_001199777:c.*245_*240delinsT,NM_172240:c.*245_*240delinsT) POC1B(uc001tba.3:c.*245_*240delinsT,uc001tbb.3:c.*245_*240delinsT,uc001tbc.3:c.*245_*240delinsT) ENSG00000139323(ENST00000313546:c.*245_*240delinsT,ENST00000393179:c.*245_*240delinsT,ENST00000378528:c.*652_*647delinsT,ENST00000549035:c.*245_*240delinsT) Na Na Na Na Na Na Het;-TCACT 3765;95|99 Ref Hom;-TCACT 8952;0|205 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89870512 89870540 TAGATAGATAGATAGATAGATAGATAGAC T indel intronic POC1B Poc1b ENSG00000139323 POC1 centriolar protein B chr12:89813495-89919801 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Pancreatic Neoplasms; Tobacco Use Disorder GO:0001895;retina homeostasis;IMP|GO:0008283;cell proliferation;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1B https://www.uniprot.org/uniprot/Q8TC44 https://hpo.jax.org/app/browse/search?q=POC1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614784 http://www.informatics.jax.org/searchtool/Search.do?query=POC1B&submit=Quick%0D%7870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1B rs200355406 0 0 0 1 0 0 intronic intronic intronic POC1B POC1B ENSG00000139323 Na Na Na Na Na Na Het;-AGATAGATAGATAGATAGATAGATAGAC 80;3|3 Ref Hom;-AGATAGATAGATAGATAGATAGATAGAC 213;0|6 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89885648 89885648 G T snp intronic POC1B Poc1b ENSG00000139323 POC1 centriolar protein B chr12:89813495-89919801 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Pancreatic Neoplasms; Tobacco Use Disorder GO:0001895;retina homeostasis;IMP|GO:0008283;cell proliferation;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1B https://www.uniprot.org/uniprot/Q8TC44 https://hpo.jax.org/app/browse/search?q=POC1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614784 http://www.informatics.jax.org/searchtool/Search.do?query=POC1B&submit=Quick%0D%7870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1B rs79970955 0.100839 0 0 1 0 0 intronic intronic intronic POC1B POC1B ENSG00000139323 Na Na Na Na Na Na Het;G>T 192;10|8 Ref Hom;G>T 426;0|14 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 89917349 89917349 C T snp synonymous SNV G462A T154T polar,hydrophilic,neutral polar,hydrophilic,neutral GALNT4 Galnt4 ENSG00000257594 polypeptide N-acetylgalactosaminyltransferase 4 chr12:89913185-89920039 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010] Acute Coronary Syndrome|Coronary Artery Disease An unpublished knockout mutation is reported to have no overt phenotypic consequences. O-linked glycosylation of mucins GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT4 https://www.ncbi.nlm.nih.gov/omim/?term=603565 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT4&submit=Quick%0D%20246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT4 rs200228838 0.000399361 0.0012 0.0011 1 0 0 exonic exonic exonic GALNT4,POC1B-GALNT4 GALNT4,POC1B-GALNT4 ENSG00000257594,ENSG00000259075 synonymous SNV synonymous SNV unknown POC1B-GALNT4:NM_001199782:exon3:c.G462A:p.T154T,GALNT4:NM_003774:exon1:c.G978A:p.T326T,POC1B-GALNT4:NM_001199781:exon3:c.G969A:p.T323T, GALNT4:uc001tbd.3:exon1:c.G978A:p.T326T,POC1B-GALNT4:uc001tbe.3:exon3:c.G969A:p.T323T,POC1B-GALNT4:uc010suo.2:exon3:c.G462A:p.T154T, UNKNOWN Het;C>T 2602;77|108 Ref Hom;C>T 4367;0|155 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 90147264 90147264 C A snp ncRNA_exonic MRPL2P1 rs882968 0.700679 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00936(dist=41535),LINC00615(dist=1164536) LINC00936(dist=41535),LINC00615(dist=1164536) ENSG00000257480 Na Na Na Na Na Na Het;C>A 404;15|16 Het;C>A 161;4|8 Hom;C>A 568;0|20 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 90147434 90147434 T C snp ncRNA_exonic MRPL2P1 rs10858925 0.700679 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00936(dist=41705),LINC00615(dist=1164366) LINC00936(dist=41705),LINC00615(dist=1164366) ENSG00000257480 Na Na Na Na Na Na Het;T>C 302;7|10 Het;T>C 51;14|4 Hom;T>C 302;0|12 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 90689015 90689020 ATTTAT A indel ncRNA_intronic LINC02392 rs144833241 0.371206 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00936(dist=583286),LINC00615(dist=622780) LINC00936(dist=583286),LINC00615(dist=622780) ENSG00000258183 Na Na Na Na Na Na Het;-TTTAT 133;6|8 Ref Hom;-TTTAT 176;0|8 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 90689347 90689347 G A snp ncRNA_exonic LINC02392 rs2165035 0.361022 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00936(dist=583618),LINC00615(dist=622453) LINC00936(dist=583618),LINC00615(dist=622453) ENSG00000258183 Na Na Na Na Na Na Het;G>A 546;18|22 Ref Hom;G>A 1074;0|34 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 91502250 91502250 A G snp synonymous SNV T507C N169N polar,hydrophilic,neutral polar,hydrophilic,neutral LUM Lum ENSG00000139329 lumican chr12:91496406-91505608 This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008] null; breast cancer ; Myopia, Degenerative; Type 2 Diabetes| edema | rosiglitazone; myopia; Myopia Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) GO:0007601;visual perception;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051216;cartilage development;IEA|GO:0070848;response to growth factor;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005583;fibrillar collagen trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;NAS|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LUM https://www.uniprot.org/uniprot/P51884 https://www.ncbi.nlm.nih.gov/omim/?term=600616 http://www.informatics.jax.org/searchtool/Search.do?query=LUM&submit=Quick%0D%7872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LUM rs17853500 0.0876597 0.0169 0.0517 1 0 0 exonic exonic exonic LUM LUM ENSG00000139329 synonymous SNV synonymous SNV unknown LUM:NM_002345:exon2:c.T507C:p.N169N, LUM:uc001tbm.3:exon2:c.T507C:p.N169N, UNKNOWN Het;A>G 1678;67|65 Ref Hom;A>G 3593;0|115 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 91625695 91625695 A G snp intergenic DCN Dcn ENSG00000011465 decorin chr12:91539025-91576900 This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015] Death, Sudden, Cardiac; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 1; breast cancer ; kidney aging; Cholesterol, LDL; Bone Mineral Density; renal disease; Heart Failure; Metabolism; Body Height; Cholesterol; Alcoholism; ovarian cancer; Alzheimer Disease; Body Mass Index; myopia; blood pressure; Myopia, Degenerative Mutant mice have fragile skin and exhibit abnormal collagen morphology in skin and tendons, supporting this gene's role in regulating collagen fiber formation. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0001822;kidney development;IEA|GO:0001890;placenta development;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007568;aging;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0010508;positive regulation of autophagy;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0042060;wound healing;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0051901;positive regulation of mitochondrial depolarization;IGI|GO:0090141;positive regulation of mitochondrial fission;IGI|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005589;collagen type VI trimer;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS GO:0003723;RNA binding;IDA|GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0047485;protein N-terminus binding;IEA|GO:0050840;extracellular matrix binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCN https://www.uniprot.org/uniprot/P07585 https://hpo.jax.org/app/browse/search?q=DCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125255 http://www.informatics.jax.org/searchtool/Search.do?query=DCN&submit=Quick%0D%562ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCN rs11106059 0.154553 0 0 1 0 0 intergenic intergenic intergenic DCN(dist=48889),C12orf79(dist=753057) DCN(dist=48889),LOC256021(dist=753057) ENSG00000258148(dist=37976),ENSG00000258100(dist=130278) Na Na Na Na Na Na Het;A>G 60;14|6 Ref Hom;A>G 1629;0|63 12_78.016_106.016 Chr12:64973018-92996828 1.299 12 92539344 92539344 T C snp UTR5 -33A>G BTG1 Btg1 ENSG00000133639 BTG anti-proliferation factor 1 chr12:92536286-92539673 This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] Multiple Sclerosis|Recurrence Mice homozygous for a knock-out allele exhibit abnormal neurogenesis in the dentate gyrus, decreased proliferation and increased apoptosis in the dentate gyrus and subventricular zone, impaired spatial learning and abnormal contextual conditioning behavior. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006479;protein methylation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007283;spermatogenesis;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016477;cell migration;NAS|GO:0030308;negative regulation of cell growth;NAS|GO:0043434;response to peptide hormone;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IMP|GO:0045663;positive regulation of myoblast differentiation;NAS|GO:0045766;positive regulation of angiogenesis;IMP|GO:2000271;positive regulation of fibroblast apoptotic process;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IMP GO:0003712;transcription cofactor activity;NAS|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/BTG1 https://www.uniprot.org/uniprot/P62324 https://www.ncbi.nlm.nih.gov/omim/?term=109580 http://www.informatics.jax.org/searchtool/Search.do?query=BTG1&submit=Quick%0D%6852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTG1 rs709223 0.853634 0.8799 0.8346 1 0 0 UTR5 UTR5 UTR5 BTG1(NM_001731:c.-33A>G) BTG1(uc001tby.3:c.-33A>G) ENSG00000133639(ENST00000256015:c.-33A>G) Na Na Na Na Na Na Het;T>C 1261;48|55 Het;T>C 843;43|40 Hom;T>C 2858;0|102 N N - 12 9313518 9313518 T A snp intronic PZP ENSG00000126838 PZP, alpha-2-macroglobulin like chr12:9301436-9360966 Nonalcoholic Fatty Liver Disease; Fatty Liver; Tobacco Use Disorder; Body Weight; Iron; Alzheimer's disease Homozygotes mutant null mice show higher bone mineral density, hypoactivity, and decreased heart rate. Mice homozygous for a different null allele show resistance to the lethal effects of endotoxin, increased susceptibility to diet-induced acute pancreatitis, and altered LPS-induced febrile and cytokine responses. GO:0007565;female pregnancy;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PZP https://www.uniprot.org/uniprot/P20742 https://www.ncbi.nlm.nih.gov/omim/?term=176420 http://www.informatics.jax.org/searchtool/Search.do?query=PZP&submit=Quick%0D%5981ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PZP rs7972015 0.846845 0 0 1 0 0 intronic intronic intronic PZP PZP ENSG00000126838 Na Na Na Na Na Na Het;T>A 43;1|4 Ref Hom;T>A 124;0|4 N N - 12 936468 936468 C G snp UTR3 *11C>G WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs2158502 0.696885 0.6888 0.7476 1 0 0 intronic UTR3 UTR3 WNK1 WNK1(uc001qin.3:c.*11C>G) ENSG00000060237(ENST00000447667:c.*11C>G) Na Na Na Na Na Na Het;C>G 486;26|20 Het;C>G 432;18|16 Hom;C>G 1459;0|45 N N - 12 93873089 93873089 C CA indel intronic MRPL42 Mrpl42 ENSG00000198015 mitochondrial ribosomal protein L42 chr12:93861264-93897545 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011] Acquired Immunodeficiency Syndrome|Disease Progression; height; Height Mitochondrial translation termination GO:0006412;translation;NAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS http://www.genecards.org/index.php?path=/Search/keyword/MRPL42 https://www.ncbi.nlm.nih.gov/omim/?term=611847 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL42&submit=Quick%0D%16785ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL42 rs34328828 0.455272 0 0 1 0 0 intronic intronic intronic MRPL42 MRPL42 ENSG00000198015 Na Na Na Na Na Na Het;+A 130;7|9 Ref Hom;+A 137;0|7 N N - 12 939302 939302 A G snp synonymous SNV A1287G A429A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs10774466 0.69349 0.6855 0.7451 1 0 0 exonic exonic exonic WNK1 WNK1 ENSG00000060237 synonymous SNV synonymous SNV unknown WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A, WNK1:uc031qfk.1:exon4:c.A1287G:p.A429A,WNK1:uc001qio.4:exon4:c.A1287G:p.A429A,WNK1:uc001qip.4:exon4:c.A1287G:p.A429A,WNK1:uc021qss.1:exon4:c.A1287G:p.A429A,WNK1:uc021qst.1:exon4:c.A1287G:p.A429A, UNKNOWN Het;A>G 730;59|35 Het;A>G 1108;49|49 Hom;A>G 2423;1|86 N N - 12 94108172 94108172 A G snp ncRNA_intronic AK130911 rs7959913 0.395367 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101928731 AK130911 ENSG00000258274 Na Na Na Na Na Na Het;A>G 127;4|5 Ref Hom;A>G 193;0|6 N N - 12 94352781 94352781 A C snp intergenic CRADD Cradd ENSG00000169372 CASP2 and RIPK1 domain containing adaptor with death domain chr12:94071151-94288616 This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with mental retardation. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Hip; Body Mass Index; Body Height; Mental Competency; Blood Vessels; Height; Narcolepsy; Myocardial Infarction; height Homozygous mutants exhibit embryonic lethality. TP53 Regulates Transcription of Caspase Activators and Caspases GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IMP|GO:0007165;signal transduction;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IC|GO:0042981;regulation of apoptotic process;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0002020;protease binding;IPI|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IPI|GO:0070513;death domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRADD https://hpo.jax.org/app/browse/search?q=CRADD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603454 http://www.informatics.jax.org/searchtool/Search.do?query=CRADD&submit=Quick%0D%12479ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRADD rs10777563 0.696486 0 0 1 0 0 intergenic intergenic intergenic CRADD(dist=108250),PLXNC1(dist=189718) CRADD(dist=64165),7SK(dist=49734) ENSG00000271382(dist=11192),ENSG00000223126(dist=49734) Na Na Na Na Na Na Het;A>C 98;15|7 Ref Hom;A>C 335;0|12 N N - 12 94562802 94562802 G A snp ncRNA_intronic AC123567.2 rs2361358 0.895966 0 0 1 0 0 intronic intronic ncRNA_intronic PLXNC1 PLXNC1 ENSG00000258035 Na Na Na Na Na Na Het;G>A 58;6|3 Het;G>A 287;8|12 Hom;G>A 441;0|12 N N - 12 94562875 94562875 C G snp ncRNA_intronic AC123567.2 rs2361359 0.877995 0 0 1 0 0 intronic intronic ncRNA_intronic PLXNC1 PLXNC1 ENSG00000258035 Na Na Na Na Na Na Het;C>G 931;37|37 Het;C>G 1114;41|46 Hom;C>G 2037;0|70 N N - 12 94563134 94563134 A AT indel ncRNA_intronic AC123567.2 rs3214968 0.778155 0 0 1 0 0 intronic intronic ncRNA_intronic PLXNC1 PLXNC1 ENSG00000258035 Na Na Na Na Na Na Het;+T 546;30|29 Het;+T 492;20|23 Hom;+T 1713;0|61 N N - 12 94575157 94575157 C T snp ncRNA_intronic AC123567.2 rs3794220 0.401757 0 0 1 0 0 intronic intronic ncRNA_intronic PLXNC1 PLXNC1 ENSG00000258035 Na Na Na Na Na Na Het;C>T 212;10|7 Het;C>T 88;4|4 Hom;C>T 343;0|10 N N - 12 94582391 94582391 C T snp intronic PLXNC1 Plxnc1 ENSG00000136040 plexin C1 chr12:94542499-94701451 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] Parkinson's disease ; Erythrocyte Indices; Parkinson Disease; Iron Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration. Other semaphorin interactions GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IBA|GO:0043087;regulation of GTPase activity;IBA|GO:0050772;positive regulation of axonogenesis;IBA|GO:0071526;semaphorin-plexin signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNC1 https://www.uniprot.org/uniprot/O60486 https://www.ncbi.nlm.nih.gov/omim/?term=604259 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNC1&submit=Quick%0D%7273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNC1 rs10859682 0.410343 0 0 1 0 0 intronic intronic intronic PLXNC1 PLXNC1 ENSG00000136040 Na Na Na Na Na Na Het;C>T 47;4|4 Ref Hom;C>T 85;0|5 N N - 12 94603300 94603300 C T snp intronic PLXNC1 Plxnc1 ENSG00000136040 plexin C1 chr12:94542499-94701451 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] Parkinson's disease ; Erythrocyte Indices; Parkinson Disease; Iron Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration. Other semaphorin interactions GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IBA|GO:0043087;regulation of GTPase activity;IBA|GO:0050772;positive regulation of axonogenesis;IBA|GO:0071526;semaphorin-plexin signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNC1 https://www.uniprot.org/uniprot/O60486 https://www.ncbi.nlm.nih.gov/omim/?term=604259 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNC1&submit=Quick%0D%7273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNC1 rs2305971 0.532548 0 0 1 0 0 intronic intronic intronic PLXNC1 PLXNC1 ENSG00000136040 Na Na Na Na Na Na Het;C>T 377;11|15 Het;C>T 328;12|12 Hom;C>T 812;0|29 N N - 12 94688232 94688232 C A snp intronic PLXNC1 Plxnc1 ENSG00000136040 plexin C1 chr12:94542499-94701451 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] Parkinson's disease ; Erythrocyte Indices; Parkinson Disease; Iron Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration. Other semaphorin interactions GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IBA|GO:0043087;regulation of GTPase activity;IBA|GO:0050772;positive regulation of axonogenesis;IBA|GO:0071526;semaphorin-plexin signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNC1 https://www.uniprot.org/uniprot/O60486 https://www.ncbi.nlm.nih.gov/omim/?term=604259 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNC1&submit=Quick%0D%7273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNC1 rs1880934 0.827676 0.7340 0.7243 1 0 0 intronic intronic intronic PLXNC1 PLXNC1 ENSG00000136040 Na Na Na Na Na Na Het;C>A 229;2|8 Het;C>A 123;3|6 Hom;C>A 442;0|17 N N - 12 94769758 94769758 A G snp synonymous SNV T837C R279R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CEP83 Cep83 rs4761611 0.833666 0.7346 0.7261 1 0 0 exonic exonic exonic CEP83 CCDC41 ENSG00000173588 synonymous SNV synonymous SNV unknown CEP83:NM_001042399:exon7:c.T837C:p.R279R,CEP83:NM_016122:exon8:c.T837C:p.R279R, CCDC41:uc001tdd.3:exon8:c.T837C:p.R279R,CCDC41:uc001tdf.3:exon8:c.T837C:p.R279R,CCDC41:uc001tde.3:exon7:c.T837C:p.R279R, UNKNOWN Het;A>G 947;65|47 Het;A>G 693;73|41 Hom;A>G 3273;0|119 N N - 12 9532024 9532024 A G snp ncRNA_intronic LOC101928030 rs11050600 0.491414 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928030,LOC101930452 DQ592342(dist=31996),DQ599803(dist=23014) ENSG00000260423 Na Na Na Na Na Na Het;A>G 332;1|13 Ref Hom;A>G 270;0|12 N N - 12 95494341 95494341 G GT indel ncRNA_exonic AC126615.2 rs35123698 0.727236 0 0 1 0 0 intronic intronic ncRNA_exonic FGD6 FGD6 ENSG00000257121 Na Na Na Na Na Na Het;+T 92;3|4 Ref Hom;+T 188;0|6 N N - 12 95494397 95494397 T C snp ncRNA_exonic AC126615.2 rs4762184 0.898163 0 0 1 0 0 intronic intronic ncRNA_exonic FGD6 FGD6 ENSG00000257121 Na Na Na Na Na Na Het;T>C 227;6|9 Ref Hom;T>C 416;0|13 N N - 12 95494482 95494482 C T snp ncRNA_exonic AC126615.2 rs7135194 0.727037 0 0 1 0 0 intronic intronic ncRNA_exonic FGD6 FGD6 ENSG00000257121 Na Na Na Na Na Na Het;C>T 485;16|21 Het;C>T 103;12|7 Hom;C>T 1081;0|40 N N - 12 95494769 95494769 C T snp ncRNA_exonic AC126615.2 rs7135574 0.727636 0 0 1 0 0 intronic intronic ncRNA_exonic FGD6 FGD6 ENSG00000257121 Na Na Na Na Na Na Het;C>T 140;2|8 Ref Hom;C>T 183;0|7 N N - 12 95500700 95500700 A AAACAAAACAAAAC indel intronic FGD6 Fgd6 ENSG00000180263 FYVE, RhoGEF and PH domain containing 6 chr12:95470525-95611258 Coronary Artery Disease; HIV Infections|[X]Human immunodeficiency virus disease GO:0007010;cytoskeleton organization;ISS|GO:0008360;regulation of cell shape;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043087;regulation of GTPase activity;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046847;filopodium assembly;ISS GO:0001726;ruffle;ISS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0031267;small GTPase binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FGD6 https://www.ncbi.nlm.nih.gov/omim/?term=613520 http://www.informatics.jax.org/searchtool/Search.do?query=FGD6&submit=Quick%0D%14454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGD6 rs10694512 0.311102 0 0 1 0 0 intronic intronic intronic FGD6 FGD6 ENSG00000180263 Na Na Na Na Na Na Het;+AACAAAACAAAAC 149;15|5 Ref Hom;+AACAAAACAAAAC 413;0|9 N N - 12 95500727 95500727 C G snp intronic FGD6 Fgd6 ENSG00000180263 FYVE, RhoGEF and PH domain containing 6 chr12:95470525-95611258 Coronary Artery Disease; HIV Infections|[X]Human immunodeficiency virus disease GO:0007010;cytoskeleton organization;ISS|GO:0008360;regulation of cell shape;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043087;regulation of GTPase activity;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046847;filopodium assembly;ISS GO:0001726;ruffle;ISS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0031267;small GTPase binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FGD6 https://www.ncbi.nlm.nih.gov/omim/?term=613520 http://www.informatics.jax.org/searchtool/Search.do?query=FGD6&submit=Quick%0D%14454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGD6 rs7138545 0.621006 0.6289 0.6531 1 0 0 intronic intronic intronic FGD6 FGD6 ENSG00000180263 Na Na Na Na Na Na Het;C>G 285;26|10 Het;C>G 416;25|14 Hom;C>G 666;0|20 N N - 12 96104138 96104138 T C snp intronic NTN4 Ntn4 ENSG00000074527 netrin 4 chr12:96051583-96184930 This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Cardiovascular Diseases; Metabolism; Brain; Body Weights and Measures Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina. Netrin-1 signaling GO:0007411;axon guidance;TAS|GO:0016322;neuron remodeling;IEA|GO:0060668;regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;TAS GO:0005515;protein binding;IPI|GO:0043237;laminin-1 binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NTN4 https://www.uniprot.org/uniprot/Q9HB63 https://www.ncbi.nlm.nih.gov/omim/?term=610401 http://www.informatics.jax.org/searchtool/Search.do?query=NTN4&submit=Quick%0D%1504ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTN4 rs2254316 0.817692 0 0 1 0 0 intronic intronic intronic NTN4 NTN4 ENSG00000074527 Na Na Na Na Na Na Het;T>C 398;12|12 Het;T>C 292;9|9 Hom;T>C 582;0|16 N N - 12 96359426 96359426 C G snp intronic AMDHD1 Amdhd1 ENSG00000139344 amidohydrolase domain containing 1 chr12:96337071-96362370 Tobacco Use Disorder Histidine catabolism GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003674;molecular_function;ND|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0016812;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides;TAS|GO:0046872;metal ion binding;IEA|GO:0050480;imidazolonepropionase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMDHD1 https://www.uniprot.org/uniprot/Q96NU7 http://www.informatics.jax.org/searchtool/Search.do?query=AMDHD1&submit=Quick%0D%7875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMDHD1 rs4762658 0.64996 0.6735 0.6381 1 0 0 intronic intronic intronic AMDHD1 AMDHD1 ENSG00000139344 Na Na Na Na Na Na Het;C>G 374;6|15 Ref Hom;C>G 1065;0|38 N N - 12 96367601 96367601 T TAAA indel UTR3 *409A>TTTA HAL Hal ENSG00000084110 histidine ammonia-lyase chr12:96366440-96390143 Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] schizophrenia; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Radiation-Induced|Skin Neoplasms|Sunburn Mutations in this gene cause elevated histidine levels. Histidine catabolism GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0004397;histidine ammonia-lyase activity;EXP|GO:0016829;lyase activity;IEA|GO:0016841;ammonia-lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAL https://www.uniprot.org/uniprot/P42357 https://hpo.jax.org/app/browse/search?q=HAL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609457 http://www.informatics.jax.org/searchtool/Search.do?query=HAL&submit=Quick%0D%1855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAL rs371103581 0 0 0 1 0 0 UTR3 UTR3 UTR3 HAL(NM_002108:c.*409A>TTTA,NM_001258333:c.*409A>TTTA,NM_001258334:c.*537A>TTTA) HAL(uc001tem.2:c.*409A>TTTA,uc010suw.2:c.*409A>TTTA,uc010sux.2:c.*537A>TTTA) ENSG00000084110(ENST00000261208:c.*409A>TTTA,ENST00000541929:c.*409A>TTTA,ENST00000544080:c.*1812A>TTTA) Na Na Na Na Na Na Het;+AAA 153;19|7 Ref Hom;+AAA 900;4|28 N N - 12 96367900 96367900 G T snp UTR3 *110C>A HAL Hal ENSG00000084110 histidine ammonia-lyase chr12:96366440-96390143 Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] schizophrenia; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Radiation-Induced|Skin Neoplasms|Sunburn Mutations in this gene cause elevated histidine levels. Histidine catabolism GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0004397;histidine ammonia-lyase activity;EXP|GO:0016829;lyase activity;IEA|GO:0016841;ammonia-lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAL https://www.uniprot.org/uniprot/P42357 https://hpo.jax.org/app/browse/search?q=HAL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609457 http://www.informatics.jax.org/searchtool/Search.do?query=HAL&submit=Quick%0D%1855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAL rs2230885 0.177117 0 0 1 0 0 UTR3 UTR3 UTR3 HAL(NM_002108:c.*110C>A,NM_001258333:c.*110C>A,NM_001258334:c.*238C>A) HAL(uc001tem.2:c.*110C>A,uc010suw.2:c.*110C>A,uc010sux.2:c.*238C>A) ENSG00000084110(ENST00000261208:c.*110C>A,ENST00000541929:c.*110C>A,ENST00000544080:c.*1513C>A,ENST00000538703:c.*238C>A,ENST00000546999:c.*1496C>A) Na Na Na Na Na Na Het;G>T 624;21|24 Ref Hom;G>T 1852;0|70 N N - 12 96374750 96374750 G A snp intronic HAL Hal ENSG00000084110 histidine ammonia-lyase chr12:96366440-96390143 Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] schizophrenia; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Radiation-Induced|Skin Neoplasms|Sunburn Mutations in this gene cause elevated histidine levels. Histidine catabolism GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0004397;histidine ammonia-lyase activity;EXP|GO:0016829;lyase activity;IEA|GO:0016841;ammonia-lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAL https://www.uniprot.org/uniprot/P42357 https://hpo.jax.org/app/browse/search?q=HAL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609457 http://www.informatics.jax.org/searchtool/Search.do?query=HAL&submit=Quick%0D%1855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAL rs2270318 0.519369 0 0 1 0 0 intronic intronic intronic HAL HAL ENSG00000084110 Na Na Na Na Na Na Het;G>A 278;3|10 Ref Hom;G>A 195;0|6 N N - 12 9686868 9686869 CT C indel ncRNA_intronic AC092821.1 rs11356373 0.838059 0 0 1 0 0 intergenic intergenic ncRNA_intronic DDX12P(dist=86100),KLRB1(dist=61001) NONE(dist=NONE),BX647938(dist=23041) ENSG00000214776 Na Na Na Na Na Na Het;-T 109;2|8 Ref Hom;-T 57;0|4 N N - 12 97211399 97211404 CATGTT C indel intronic CFAP54 Cfap54 rs369211137 0 0 0 1 0 0 intergenic intergenic intronic CDK17(dist=417033),NEDD1(dist=89597) C12orf63(dist=52367),NEDD1(dist=89597) ENSG00000188596 Na Na Na Na Na Na Het;-ATGTT 125;2|3 Ref Hom;-ATGTT 143;0|4 N N - 12 97211407 97211407 C CTAA indel intronic CFAP54 Cfap54 rs748668804 0 0 0 1 0 0 intergenic intergenic intronic CDK17(dist=417041),NEDD1(dist=89594) C12orf63(dist=52375),NEDD1(dist=89594) ENSG00000188596 Na Na Na Na Na Na Het;+TAA 167;2|4 Ref Hom;+TAA 143;0|4 N N - 12 97211410 97211410 G T snp intronic CFAP54 Cfap54 rs142077887 0.339856 0 0 1 0 0 intergenic intergenic intronic CDK17(dist=417044),NEDD1(dist=89591) C12orf63(dist=52378),NEDD1(dist=89591) ENSG00000188596 Na Na Na Na Na Na Het;G>T 176;2|5 Ref Hom;G>T 152;0|4 N N - 12 97254620 97254620 G A snp unknown CFAP54 Cfap54 rs1420653 0.848842 0 0.7871 1 0 0 intergenic intergenic exonic CDK17(dist=460254),NEDD1(dist=46381) C12orf63(dist=95588),NEDD1(dist=46381) ENSG00000188596 Na Na unknown Na Na UNKNOWN Het;G>A 1658;72|72 Ref Hom;G>A 5684;0|214 N N - 12 987482 987482 G A snp synonymous SNV G2328A Q776Q polar,hydrophilic,neutral polar,hydrophilic,neutral WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs1012729 0.679513 0.6795 0.7340 1 0 0 exonic exonic exonic WNK1 WNK1 ENSG00000060237 synonymous SNV synonymous SNV unknown WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q, WNK1:uc031qfk.1:exon11:c.G3567A:p.Q1189Q,WNK1:uc001qio.4:exon10:c.G2328A:p.Q776Q,WNK1:uc001qip.4:exon10:c.G2325A:p.Q775Q,WNK1:uc021qss.1:exon11:c.G3567A:p.Q1189Q,WNK1:uc001qir.4:exon3:c.G585A:p.Q195Q,WNK1:uc021qst.1:exon12:c.G3822A:p.Q1274Q, UNKNOWN Het;G>A 2892;124|137 Het;G>A 2326;133|116 Hom;G>A 5596;2|214 N N - 12 98848696 98848696 C T snp ncRNA_exonic SLC9A7P1 rs829863 0.205272 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic SLC9A7P1 SLC9A7P1(uc009ztm.2:c.*1655G>A) ENSG00000227825 Na Na Na Na Na Na Het;C>T 2505;119|113 Ref Hom;C>T 5502;2|195 N N - 12 98850195 98850195 C T snp ncRNA_exonic SLC9A7P1 rs829864 0.592652 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic SLC9A7P1 SLC9A7P1(uc009ztm.2:c.*156G>A) ENSG00000227825 Na Na Na Na Na Na Het;C>T 2554;115|100 Ref Hom;C>T 4541;0|160 N N - 12 9885999 9885999 G A snp upstream CLECL1 ENSG00000184293 C-type lectin like 1 chr12:9868456-9885895 This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Multiple Sclerosis GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLECL1 https://www.ncbi.nlm.nih.gov/omim/?term=607467 http://www.informatics.jax.org/searchtool/Search.do?query=CLECL1&submit=Quick%0D%15175ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLECL1 rs10492166 0.46905 0 0 1 0 0 upstream upstream upstream CLECL1 CLECL1 ENSG00000184293 Na Na Na Na Na Na Het;G>A 32;4|2 Ref Hom;G>A 181;0|5 N N - 12 988894 988894 G A snp synonymous SNV G2529A Q843Q polar,hydrophilic,neutral polar,hydrophilic,neutral WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs9804992 0.145767 0.1478 0.1542 1 0 0 exonic exonic exonic WNK1 WNK1 ENSG00000060237 synonymous SNV synonymous SNV unknown WNK1:NM_018979:exon11:c.G2529A:p.Q843Q, WNK1:uc031qfk.1:exon12:c.G3768A:p.Q1256Q,WNK1:uc001qio.4:exon11:c.G2529A:p.Q843Q, UNKNOWN Het;G>A 1455;81|63 Het;G>A 1434;71|64 Hom;G>A 3680;2|133 N N - 12 98897473 98897473 A G snp ncRNA_intronic LOC643770 rs249820 0.252796 0 0 1 0 0 ncRNA_intronic intronic intronic LOC643770 LOC643770 ENSG00000245017 Na Na Na Na Na Na Het;A>G 219;8|8 Ref Hom;A>G 417;1|13 N N - 12 99166805 99166805 G T snp intronic ANKS1B Anks1b ENSG00000185046 ankyrin repeat and sterile alpha motif domain containing 1B chr12:99120235-100378432 This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] Memory, Short-Term; Waist Circumference; Magnesium; Subcutaneous Fat; Sleep; Leukocyte Count; Body Weights and Measures; Cardiovascular Diseases; Cholesterol, LDL; Benzodiazepines; Type 2 Diabetes| edema | rosiglitazone; Electrocardiography; Lipids; response to antipsychotic treatment; Body Mass Index; Diabetes mellitus|Diabetic Nephropathies|Diabetic Nephropathy; Myocardial Infarction; Tobacco Use Disorder; Cholesterol, HDL Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. GO:1900383;regulation of synaptic plasticity by receptor localization to synapse;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0014069;postsynaptic density;IEA|GO:0015030;Cajal body;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0046875;ephrin receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANKS1B https://www.ncbi.nlm.nih.gov/omim/?term=607815 http://www.informatics.jax.org/searchtool/Search.do?query=ANKS1B&submit=Quick%0D%15331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKS1B rs2287574 0.359824 0.4156 0.4012 1 0 0 intronic intronic intronic ANKS1B ANKS1B ENSG00000185046 Na Na Na Na Na Na Het;G>T 306;22|15 Het;G>T 302;26|14 Hom;G>T 1402;0|50 N N - 12 992229 992229 C T snp intronic WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs34032084 0.101038 0.1078 0.1183 1 0 0 intronic intronic intronic WNK1 WNK1 ENSG00000060237 Na Na Na Na Na Na Het;C>T 1752;104|82 Het;C>T 1590;125|81 Hom;C>T 5410;4|206 N N - 12 996357 996357 C T snp intronic WNK1 Wnk1 ENSG00000060237 WNK lysine deficient protein kinase 1 chr12:861759-1020618 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] Tobacco Use Disorder; Apoplexy|Brain Ischemia|Stroke; Type 2 Diabetes| edema | rosiglitazone; Hereditary Sensory and Autonomic Neuropathies; null; HIV Infections|[X]Human immunodeficiency virus disease; blood pressure, arterial; Chronic renal failure|Kidney Failure, Chronic; hypertension; Essential Hypertension; Hypertension Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. Stimuli-sensing channels GO:0002028;regulation of sodium ion transport;ISS|GO:0003084;positive regulation of systemic arterial blood pressure;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006811;ion transport;ISS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;TAS|GO:0023016;signal transduction by trans-phosphorylation;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033673;negative regulation of kinase activity;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0046777;protein autophosphorylation;IEA|GO:0048666;neuron development;NAS|GO:0050794;regulation of cellular process;ISS|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0090188;negative regulation of pancreatic juice secretion;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004860;protein kinase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019869;chloride channel inhibitor activity;IDA|GO:0019870;potassium channel inhibitor activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0030291;protein serine/threonine kinase inhibitor activity;IEA|GO:0030295;protein kinase activator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/WNK1 https://www.uniprot.org/uniprot/Q9H4A3 https://hpo.jax.org/app/browse/search?q=WNK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605232 http://www.informatics.jax.org/searchtool/Search.do?query=WNK1&submit=Quick%0D%1058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNK1 rs56375346 0.101238 0.1076 0.1192 1 0 0 intronic intronic intronic WNK1 WNK1 ENSG00000060237 Na Na Na Na Na Na Het;C>T 462;19|20 Het;C>T 687;31|34 Hom;C>T 2164;0|80 N N - 13 100469248 100469248 G A snp ncRNA_intronic LOC101927437 rs2806295 0.320288 0 0 1 0 0 ncRNA_intronic intronic intronic LOC101927437 CLYBL ENSG00000125246 Na Na Na Na Na Na Het;G>A 159;8|6 Het;G>A 172;3|6 Hom;G>A 201;0|6 N N - 13 100523386 100523386 T C snp ncRNA_intronic LOC101927437 rs3742254 0.409345 0 0 1 0 0 ncRNA_intronic intronic intronic LOC101927437 CLYBL ENSG00000125246 Na Na Na Na Na Na Het;T>C 167;24|8 Het;T>C 493;11|21 Hom;T>C 1338;0|46 N N - 13 100649323 100649323 C T snp ncRNA_exonic LINC00554 rs74411763 0.326677 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00554 ZIC2(dist=10304),PCCA(dist=91946) ENSG00000260738 Na Na Na Na Na Na Het;C>T 722;65|35 Het;C>T 407;37|24 Hom;C>T 1190;2|54 N N - 13 100861813 100861813 T TAC indel intronic PCCA Pcca ENSG00000175198 propionyl-CoA carboxylase alpha subunit chr13:100741269-101182686 The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Count; Hemoglobins; Coronary Artery Disease; Acquired Immunodeficiency Syndrome|Disease Progression; Stroke Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. Propionyl-CoA catabolism GO:0006768;biotin metabolic process;TAS|GO:0019626;short-chain fatty acid catabolic process;TAS GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004075;biotin carboxylase activity;IEA|GO:0004658;propionyl-CoA carboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0009374;biotin binding;TAS|GO:0016874;ligase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCCA https://hpo.jax.org/app/browse/search?q=PCCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=232000 http://www.informatics.jax.org/searchtool/Search.do?query=PCCA&submit=Quick%0D%13655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCCA rs34598548 0.395168 0 0 1 0 0 intronic intronic intronic PCCA PCCA ENSG00000175198 Na Na Na Na Na Na Het;+AC 956;3|32 Het;+AC 572;2|19 Hom;+AC 827;3|26 N N - 13 107862841 107862841 T C snp intronic FAM155A Fam155a ENSG00000204442 family with sequence similarity 155 member A chr13:107820883-108519083 Hemoglobins; Audiometry, Pure-Tone; Myocardial Infarction; Tobacco Use Disorder; Blood Pressure; Stroke; Cholesterol, LDL; Bone Density; Waist Circumference; Walking; Cystatins; Hematocrit; Heart Failure; Erythrocytes; Body Height; Anorexia Nervosa; Attention Deficit and Disruptive Behavior Disorders GO:0098703;calcium ion import across plasma membrane;IBA GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015275;stretch-activated, cation-selective, calcium channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/FAM155A http://www.informatics.jax.org/searchtool/Search.do?query=FAM155A&submit=Quick%0D%17302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM155A rs3751448 0.392372 0 0 1 0 0 intronic intronic intronic FAM155A FAM155A ENSG00000204442 Na Na Na Na Na Na Het;T>C 188;5|6 Het;T>C 129;1|5 Hom;T>C 95;0|4 N N - 13 111117059 111117059 G A snp intronic COL4A2 Col4a2 ENSG00000134871 collagen type IV alpha 2 chain chr13:110958159-111165374 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL4A2 https://www.uniprot.org/uniprot/P08572 https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120090 http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2 rs9559808 0.188099 0 0 1 0 0 intronic intronic intronic COL4A2 COL4A2 ENSG00000134871 Na Na Na Na Na Na Het;G>A 50;2|2 Ref Hom;G>A 152;0|4 N N - 13 111117066 111117066 A G snp intronic COL4A2 Col4a2 ENSG00000134871 collagen type IV alpha 2 chain chr13:110958159-111165374 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL4A2 https://www.uniprot.org/uniprot/P08572 https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120090 http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2 rs9559809 0.535343 0 0 1 0 0 intronic intronic intronic COL4A2 COL4A2 ENSG00000134871 Na Na Na Na Na Na Het;A>G 50;2|2 Ref Hom;A>G 152;0|4 N N - 13 111156021 111156021 C T snp ncRNA_intronic COL4A2-AS1 rs4773200 0.375799 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic COL4A2-AS1 COL4A2-AS1 ENSG00000232814 Na Na Na Na Na Na Het;C>T 137;2|5 Ref Hom;C>T 180;0|7 N N - 13 111329199 111329200 CA C indel intronic CARS2 Cars2 ENSG00000134905 cysteinyl-tRNA synthetase 2, mitochondrial (putative) chr13:111293759-111365950 This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for an ENU-induced allele develop induced hyperactivity followed by head bobbing and tremors. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006423;cysteinyl-tRNA aminoacylation;IBA GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA GO:0000166;nucleotide binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004817;cysteine-tRNA ligase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CARS2 https://www.uniprot.org/uniprot/Q9HA77 https://hpo.jax.org/app/browse/search?q=CARS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612800 http://www.informatics.jax.org/searchtool/Search.do?query=CARS2&submit=Quick%0D%7056ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARS2 rs3215828 0.140176 0 0 1 0 0 intronic intronic intronic CARS2 CARS2 ENSG00000134905 Na Na Na Na Na Na Het;-A 345;10|16 Ref Hom;-A 382;0|15 N N - 13 112809269 112809269 T C snp intergenic LINC00403 rs1550190 0.290136 0 0 1 0 0 intergenic intergenic intergenic LINC00403(dist=46940),LINC01070(dist=42378) AK055145(dist=44383),CR627049(dist=42395) ENSG00000224243(dist=46940),ENSG00000260102(dist=42395) Na Na Na Na Na Na Het;T>C 41;3|3 Ref Hom;T>C 64;0|3 N N - 13 112813791 112813791 G A snp intergenic LINC00403 rs1025663 0.283946 0 0 1 0 0 intergenic intergenic intergenic LINC00403(dist=51462),LINC01070(dist=37856) AK055145(dist=48905),CR627049(dist=37873) ENSG00000224243(dist=51462),ENSG00000260102(dist=37873) Na Na Na Na Na Na Het;G>A 34;3|2 Ref Hom;G>A 161;0|5 N N - 13 113813268 113813268 A G snp intronic PROZ Proz ENSG00000126231 protein Z, vitamin K dependent plasma glycoprotein chr13:113812968-113826694 This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Cardiovascular Diseases; cerebral venous thrombosis; Abortion, Habitual; Stroke|Thromboembolism; Intracranial Thrombosis|Venous Thrombosis; Severe Sepsis; Neoplasms|Thrombophilia|Thrombosis; Kidney Failure, Chronic; warfarin sensitivity; cerebral ischemia; pregnancy loss; Factor VII; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Stroke; Ischemia|Stroke; Behcet Syndrome|Venous Thrombosis; stroke, ischemic; Myocardial Infarction When unchallenged, mice homozygous for a knock-out allele do not express an obvious phenotype; however, homozygotes exhibit significantly reduced survival following collagen/epinephrine-induced thromboembolism and develop enhanced thrombosis in the ferric chloride-induced arterial injury model. Removal of aminoterminal propeptides from gamma-carboxylated proteins GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030195;negative regulation of blood coagulation;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PROZ https://www.uniprot.org/uniprot/P22891 https://www.ncbi.nlm.nih.gov/omim/?term=176895 http://www.informatics.jax.org/searchtool/Search.do?query=PROZ&submit=Quick%0D%5918ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROZ rs3024711 0.227636 0 0 1 0 0 intronic intronic intronic PROZ PROZ ENSG00000126231 Na Na Na Na Na Na Het;A>G 81;3|3 Ref Hom;A>G 148;0|5 N N - 13 19626928 19626928 C T snp ncRNA_intronic PHF2P2 rs6490946 0.520966 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00442(dist=40154),RNU6-52P(dist=90194) LINC00442(dist=40154),RNU6-52P(dist=90194) ENSG00000226057 Na Na Na Na Na Na Het;C>T 137;2|6 Ref Hom;C>T 121;0|4 N N - 13 21523628 21523628 T G snp ncRNA_exonic HNRNPA1P30 rs17051454 0.259784 0 0 1 0 0 upstream intergenic ncRNA_exonic LINC00367 XPO4(dist=46715),LATS2(dist=23548) ENSG00000233780 Na Na Na Na Na Na Het;T>G 363;16|15 Het;T>G 202;22|12 Hom;T>G 707;0|25 N N - 13 21535379 21535379 C T snp upstream RPSAP54 rs4770088 0.235823 0 0 1 0 0 intergenic intergenic upstream LINC00367(dist=11812),LATS2(dist=11797) XPO4(dist=58466),LATS2(dist=11797) ENSG00000213621 Na Na Na Na Na Na Het;C>T 617;34|24 Ref Hom;C>T 835;0|29 N N - 13 21535954 21535954 C G snp ncRNA_exonic RPSAP54 rs9796221 0.222843 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00367(dist=12387),LATS2(dist=11222) XPO4(dist=59041),LATS2(dist=11222) ENSG00000213621 Na Na Na Na Na Na Het;C>G 1239;60|54 Ref Hom;C>G 3689;0|133 N N - 13 21746925 21746925 C G snp intronic SKA3 Ska3 ENSG00000165480 spindle and kinetochore associated complex subunit 3 chr13:21727734-21750741 This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IDA|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000940;condensed chromosome outer kinetochore;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005876;spindle microtubule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SKA3 http://www.informatics.jax.org/searchtool/Search.do?query=SKA3&submit=Quick%0D%11548ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SKA3 rs60137149 0.229832 0 0 1 0 0 intronic intronic intronic SKA3 SKA3 ENSG00000165480 Na Na Na Na Na Na Het;C>G 165;2|5 Ref Hom;C>G 186;0|5 N N - 13 21872236 21872236 C T snp upstream MIPEPP3 rs2038982 0.828275 0 0 1 0 0 upstream upstream upstream MIPEPP3 MIPEPP3 ENSG00000233325 Na Na Na Na Na Na Het;C>T 251;33|14 Het;C>T 213;20|11 Hom;C>T 815;0|28 N N - 13 21872348 21872348 A G snp ncRNA_exonic MIPEPP3 rs4638420 0.83127 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic MIPEPP3 MIPEPP3 ENSG00000233325 Na Na Na Na Na Na Het;A>G 1053;63|49 Het;A>G 1007;53|48 Hom;A>G 2922;0|104 N N - 13 21886354 21886354 G A snp ncRNA_exonic LINC00539 rs61951450 0.26897 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic LINC00539 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 1449;67|67 Het;G>A 1252;72|59 Hom;G>A 3318;0|125 N N - 13 21893622 21893623 CT C indel ncRNA_exonic GRK6P1 rs398021842 0.438498 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;-T 6796;162|213 Het;-T 5708;189|184 Hom;-T 13574;0|365 N N - 13 21893949 21893949 A G snp ncRNA_exonic GRK6P1 rs9580074 0.435104 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;A>G 3100;105|119 Het;A>G 2513;115|124 Hom;A>G 5531;0|196 N N - 13 21894420 21894420 C T snp ncRNA_exonic GRK6P1 rs9580075 0.438099 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;C>T 4003;120|109 Het;C>T 2441;88|107 Hom;C>T 7756;5|182 N N - 13 21894445 21894445 T C snp ncRNA_exonic GRK6P1 rs9580076 0.451677 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;T>C 4512;128|127 Het;T>C 2615;117|113 Hom;T>C 8423;5|215 N N - 13 21894626 21894626 G C snp ncRNA_exonic GRK6P1 rs9578366 0.439497 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;G>C 2247;156|103 Het;G>C 2818;125|127 Hom;G>C 6256;0|213 N N - 13 21894803 21894803 T C snp ncRNA_exonic GRK6P1 rs9580077 0.429912 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;T>C 1495;128|71 Het;T>C 704;135|46 Hom;T>C 1329;0|48 N N - 13 21894824 21894824 G C snp ncRNA_exonic GRK6P1 rs9580078 0.434904 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;G>C 1996;140|99 Het;G>C 1434;139|70 Hom;G>C 2197;0|78 N N - 13 21894947 21894947 C T snp ncRNA_exonic GRK6P1 rs9580079 0.415136 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00539,MIPEPP3 MIPEPP3 ENSG00000215571 Na Na Na Na Na Na Het;C>T 3031;167|146 Het;C>T 2382;156|117 Hom;C>T 7512;2|284 N N - 13 21895037 21895037 G T snp ncRNA_intronic MIPEPP3 rs9580080 0.415136 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>T 3623;99|98 Het;G>T 2743;103|76 Hom;G>T 8848;0|204 N N - 13 21895046 21895046 T C snp ncRNA_intronic MIPEPP3 rs9580081 0.434105 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;T>C 3558;100|95 Het;T>C 2629;103|70 Hom;T>C 8633;0|191 N N - 13 21895242 21895242 G A snp ncRNA_intronic MIPEPP3 rs55880249 0.412939 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 1424;65|61 Het;G>A 837;41|38 Hom;G>A 3017;0|103 N N - 13 21895574 21895574 G A snp ncRNA_intronic MIPEPP3 rs34479949 0.294129 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 2036;51|79 Het;G>A 1693;76|70 Hom;G>A 3959;0|129 N N - 13 21895702 21895702 C T snp ncRNA_intronic MIPEPP3 rs35932860 0.415136 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;C>T 1291;64|55 Het;C>T 1085;61|53 Hom;C>T 2945;0|100 N N - 13 21895824 21895825 CA C indel ncRNA_intronic MIPEPP3 rs34375679 0.410743 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;-A 596;33|34 Het;-A 330;28|21 Hom;-A 1280;5|60 N N - 13 21895998 21895998 G A snp ncRNA_intronic MIPEPP3 rs35095095 0.415136 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 112;10|5 Het;G>A 244;6|9 Hom;G>A 188;0|6 N N - 13 21896020 21896020 G A snp ncRNA_intronic MIPEPP3 rs34207362 0.414337 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 210;11|8 Het;G>A 280;9|10 Hom;G>A 323;0|10 N N - 13 21896301 21896301 C CAT indel ncRNA_intronic MIPEPP3 rs58821065 0.859225 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;+AT 1118;32|31 Het;+AT 1623;42|44 Hom;+AT 3604;0|82 N N - 13 21896359 21896359 G T snp ncRNA_intronic MIPEPP3 rs35415773 0.414337 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>T 265;9|9 Het;G>T 376;16|14 Hom;G>T 722;0|24 N N - 13 21896395 21896395 G A snp ncRNA_intronic MIPEPP3 rs34757709 0.412939 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 45;1|2 Het;G>A 138;6|5 Hom;G>A 323;0|9 N N - 13 21896406 21896406 G A snp ncRNA_intronic MIPEPP3 rs35059770 0.412939 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00539,MIPEPP3 MIPEPP3 ENSG00000224429 Na Na Na Na Na Na Het;G>A 45;1|2 Het;G>A 109;6|4 Hom;G>A 288;0|8 N N - 13 22083998 22083998 A C snp intronic MICU2 Micu2 ENSG00000165487 mitochondrial calcium uptake 2 chr13:22066836-22178353 Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder; Cholesterol, HDL Mice homozygous for a knock-out allele exhibit an enlarged heart left atrium along with delayed calcium reuptake and decreased relaxation rates by cardiomyocytes, and develop abdominal aortic aneurysms with spontaneous rupture following angiotensin II treatment. Processing of SMDT1 GO:0006851;mitochondrial calcium ion transport;TAS|GO:0036444;mitochondrial calcium uptake;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IMP|GO:0051561;positive regulation of mitochondrial calcium ion concentration;IEA|GO:0051562;negative regulation of mitochondrial calcium ion concentration;IDA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005758;mitochondrial intermembrane space;IDA|GO:0034704;calcium channel complex;ISS|GO:1990246;uniplex complex;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/MICU2 https://www.ncbi.nlm.nih.gov/omim/?term=610632 http://www.informatics.jax.org/searchtool/Search.do?query=MICU2&submit=Quick%0D%11549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICU2 rs3814795 0.448882 0 0 1 0 0 intronic intronic intronic MICU2 MICU2 ENSG00000165487 Na Na Na Na Na Na Het;A>C 156;1|5 Ref Hom;A>C 130;0|4 N N - 13 22275193 22275193 T C snp intronic FGF9 Fgf9 ENSG00000102678 fibroblast growth factor 9 chr13:22245522-22278637 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008] Lipids; C-Reactive Protein; Hip; Depressive Disorder, Major; Socioeconomic Factors; Interleukin 1 Receptor Antagonist Protein; Forced Expiratory Volume; Albumins; Body Height; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Dibenzothiazepines; Carotid Artery Diseases; Aorta; Cleft Lip|Cleft Palate; Electrocardiography; Cornea; Hyperparathyroidism, Secondary Homozygotes for a targeted null mutation exhibit reduced size, pulmonary hypoplasia, cardiac dilation, impaired testes development resulting in male-to-female sex reversal, abnormal retina, and neonatal lethality. Signaling by FGFR3 point mutants in cancer GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001654;eye development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008584;male gonad development;IEP|GO:0010628;positive regulation of gene expression;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021762;substantia nigra development;IEP|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030238;male sex determination;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0032927;positive regulation of activin receptor signaling pathway;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060484;lung-associated mesenchyme development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0008083;growth factor activity;TAS|GO:0008201;heparin binding;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FGF9 https://www.uniprot.org/uniprot/P31371 https://hpo.jax.org/app/browse/search?q=FGF9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600921 http://www.informatics.jax.org/searchtool/Search.do?query=FGF9&submit=Quick%0D%2898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF9 rs518544 0.90635 0 0 1 0 0 intronic intronic intronic FGF9 FGF9 ENSG00000102678 Na Na Na Na Na Na Het;T>C 125;5|4 Het;T>C 86;4|3 Hom;T>C 287;0|7 N N - 13 22275210 22275210 T C snp intronic FGF9 Fgf9 ENSG00000102678 fibroblast growth factor 9 chr13:22245522-22278637 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008] Lipids; C-Reactive Protein; Hip; Depressive Disorder, Major; Socioeconomic Factors; Interleukin 1 Receptor Antagonist Protein; Forced Expiratory Volume; Albumins; Body Height; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Dibenzothiazepines; Carotid Artery Diseases; Aorta; Cleft Lip|Cleft Palate; Electrocardiography; Cornea; Hyperparathyroidism, Secondary Homozygotes for a targeted null mutation exhibit reduced size, pulmonary hypoplasia, cardiac dilation, impaired testes development resulting in male-to-female sex reversal, abnormal retina, and neonatal lethality. Signaling by FGFR3 point mutants in cancer GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001654;eye development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008584;male gonad development;IEP|GO:0010628;positive regulation of gene expression;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021762;substantia nigra development;IEP|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030238;male sex determination;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0032927;positive regulation of activin receptor signaling pathway;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060484;lung-associated mesenchyme development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0008083;growth factor activity;TAS|GO:0008201;heparin binding;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FGF9 https://www.uniprot.org/uniprot/P31371 https://hpo.jax.org/app/browse/search?q=FGF9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600921 http://www.informatics.jax.org/searchtool/Search.do?query=FGF9&submit=Quick%0D%2898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF9 rs519234 0.90655 0 0 1 0 0 intronic intronic intronic FGF9 FGF9 ENSG00000102678 Na Na Na Na Na Na Het;T>C 128;4|4 Het;T>C 157;5|5 Hom;T>C 329;0|8 N N - 13 22275394 22275394 A G snp synonymous SNV A447G S149S polar,hydrophilic,neutral polar,hydrophilic,neutral FGF9 Fgf9 ENSG00000102678 fibroblast growth factor 9 chr13:22245522-22278637 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008] Lipids; C-Reactive Protein; Hip; Depressive Disorder, Major; Socioeconomic Factors; Interleukin 1 Receptor Antagonist Protein; Forced Expiratory Volume; Albumins; Body Height; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Dibenzothiazepines; Carotid Artery Diseases; Aorta; Cleft Lip|Cleft Palate; Electrocardiography; Cornea; Hyperparathyroidism, Secondary Homozygotes for a targeted null mutation exhibit reduced size, pulmonary hypoplasia, cardiac dilation, impaired testes development resulting in male-to-female sex reversal, abnormal retina, and neonatal lethality. Signaling by FGFR3 point mutants in cancer GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001654;eye development;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008584;male gonad development;IEP|GO:0010628;positive regulation of gene expression;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021762;substantia nigra development;IEP|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030238;male sex determination;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0032927;positive regulation of activin receptor signaling pathway;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060484;lung-associated mesenchyme development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0008083;growth factor activity;TAS|GO:0008201;heparin binding;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FGF9 https://www.uniprot.org/uniprot/P31371 https://hpo.jax.org/app/browse/search?q=FGF9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600921 http://www.informatics.jax.org/searchtool/Search.do?query=FGF9&submit=Quick%0D%2898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF9 rs9509841 0.832468 0.7740 0.8398 1 0 0 exonic exonic exonic FGF9 FGF9 ENSG00000102678 synonymous SNV synonymous SNV unknown FGF9:NM_002010:exon3:c.A447G:p.S149S, FGF9:uc001uog.2:exon3:c.A447G:p.S149S, UNKNOWN Het;A>G 2344;124|105 Het;A>G 2268;137|109 Hom;A>G 5601;4|207 N N - 13 23350509 23350509 G A snp intergenic LINC00540 rs9580437 0.272564 0 0 1 0 0 intergenic intergenic intergenic LINC00540(dist=499850),BASP1P1(dist=120660) AK054845(dist=499850),BC048997(dist=43972) ENSG00000225777(dist=70164),ENSG00000253094(dist=26775) Na Na Na Na Na Na Het;G>A 36;3|2 Ref Hom;G>A 250;0|8 N N - 13 24001078 24001078 C T snp ncRNA_intronic SACS-AS1 rs9552958 0.180112 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic SACS-AS1 SACS-AS1 ENSG00000229558 Na Na Na Na Na Na Het;C>T 669;16|27 Ref Hom;C>T 636;0|20 N N - 13 24044546 24044546 G A snp ncRNA_intronic LINC00327 rs2274928 0.53734 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00327 LINC00327 ENSG00000232977 Na Na Na Na Na Na Het;G>A 139;2|5 Ref Hom;G>A 251;0|8 N N - 13 24061232 24061232 A G snp ncRNA_exonic LINC00327 rs7982254 0.723842 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00327 LINC00327 ENSG00000232977 Na Na Na Na Na Na Het;A>G 495;9|15 Het;A>G 42;4|3 Hom;A>G 523;0|13 N N - 13 24607655 24607655 G A snp ncRNA_exonic BC043582 rs9507221 0.372604 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic SPATA13 BC043582 ENSG00000228741 Na Na Na Na Na Na Het;G>A 1148;43|50 Ref Hom;G>A 2426;0|85 N N - 13 24952580 24952580 C T snp intergenic C1QTNF9 ENSG00000240654 C1q and TNF related 9 chr13:24881304-24896673 Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis. GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF9 https://www.ncbi.nlm.nih.gov/omim/?term=614285 http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF9&submit=Quick%0D%19628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF9 rs6490903 0.638578 0 0 1 0 0 intergenic intergenic intergenic C1QTNF9(dist=55911),PARP4(dist=42489) BC038727(dist=41322),PARP4(dist=42489) ENSG00000261498(dist=41321),ENSG00000233545(dist=22261) Na Na Na Na Na Na Het;C>T 409;20|17 Ref Hom;C>T 1168;0|40 N N - 13 24952701 24952701 A AT indel intergenic C1QTNF9 ENSG00000240654 C1q and TNF related 9 chr13:24881304-24896673 Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis. GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF9 https://www.ncbi.nlm.nih.gov/omim/?term=614285 http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF9&submit=Quick%0D%19628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF9 rs35907826 0.52476 0 0 1 0 0 intergenic intergenic intergenic C1QTNF9(dist=56032),PARP4(dist=42368) BC038727(dist=41443),PARP4(dist=42368) ENSG00000261498(dist=41442),ENSG00000233545(dist=22140) Na Na Na Na Na Na Het;+T 783;64|37 Ref Hom;+T 3130;0|107 N N - 13 25367282 25367282 A C snp nonsynonymous SNV A855C K285N polar,hydrophilic,charged(+) polar,hydrophilic,neutral RNF17 Rnf17 ENSG00000132972 ring finger protein 17 chr13:25338290-25454059 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] Hemoglobin A, Glycosylated; Diabetic Nephropathies Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF17 https://www.uniprot.org/uniprot/Q9BXT8 https://www.ncbi.nlm.nih.gov/omim/?term=605793 http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17 rs1451568 0.157348 0.2153 0.1499 0.08 1 13 exonic exonic exonic RNF17 RNF17 ENSG00000132972 nonsynonymous SNV nonsynonymous SNV unknown RNF17:NM_031277:exon10:c.A1038C:p.K346N,RNF17:NM_001184993:exon10:c.A1038C:p.K346N, RNF17:uc001ups.3:exon10:c.A855C:p.K285N,RNF17:uc010tde.2:exon10:c.A1038C:p.K346N,RNF17:uc001upq.1:exon10:c.A1038C:p.K346N,RNF17:uc010tdd.1:exon9:c.A615C:p.K205N,RNF17:uc001upr.3:exon10:c.A1038C:p.K346N, UNKNOWN Het;A>C 665;16|26 Ref Hom;A>C 2430;0|94 N N - 13 25456676 25456676 A G snp UTR3 *639T>C CENPJ Cenpj ENSG00000151849 centromere protein J chr13:25457171-25497018 This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] Micrencephaly |Microcephaly Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007020;microtubule nucleation;TAS|GO:0007099;centriole replication;IMP|GO:0007224;smoothened signaling pathway;IEA|GO:0044458;motile cilium assembly;IEA|GO:0046599;regulation of centriole replication;IMP|GO:0046785;microtubule polymerization;IMP|GO:0051298;centrosome duplication;IEA|GO:0051301;cell division;NAS|GO:0061511;centriole elongation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:0098534;centriole assembly;IEA|GO:1902857;positive regulation of non-motile cilium assembly;IEA|GO:1903087;mitotic spindle pole body duplication;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008275;gamma-tubulin small complex;NAS|GO:0036064;ciliary basal body;IEA GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CENPJ https://www.uniprot.org/uniprot/Q9HC77 https://hpo.jax.org/app/browse/search?q=CENPJ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609279 http://www.informatics.jax.org/searchtool/Search.do?query=CENPJ&submit=Quick%0D%9480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPJ rs61947515 0.0816693 0 0 1 0 0 UTR3 UTR3 downstream CENPJ(NM_018451:c.*639T>C) CENPJ(uc001upt.5:c.*639T>C) ENSG00000151849 Na Na Na Na Na Na Het;A>G 3180;88|135 Ref Hom;A>G 7063;2|256 N N - 13 25496762 25496762 T C snp intronic CENPJ Cenpj ENSG00000151849 centromere protein J chr13:25457171-25497018 This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] Micrencephaly |Microcephaly Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007020;microtubule nucleation;TAS|GO:0007099;centriole replication;IMP|GO:0007224;smoothened signaling pathway;IEA|GO:0044458;motile cilium assembly;IEA|GO:0046599;regulation of centriole replication;IMP|GO:0046785;microtubule polymerization;IMP|GO:0051298;centrosome duplication;IEA|GO:0051301;cell division;NAS|GO:0061511;centriole elongation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:0098534;centriole assembly;IEA|GO:1902857;positive regulation of non-motile cilium assembly;IEA|GO:1903087;mitotic spindle pole body duplication;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0008275;gamma-tubulin small complex;NAS|GO:0036064;ciliary basal body;IEA GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CENPJ https://www.uniprot.org/uniprot/Q9HC77 https://hpo.jax.org/app/browse/search?q=CENPJ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609279 http://www.informatics.jax.org/searchtool/Search.do?query=CENPJ&submit=Quick%0D%9480ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPJ rs4770758 0.539337 0 0 1 0 0 intronic intronic intronic CENPJ CENPJ ENSG00000151849 Na Na Na Na Na Na Het;T>C 268;17|9 Ref Hom;T>C 609;0|15 N N - 13 25503384 25503384 G C snp ncRNA_exonic TPTE2P1 rs6490992 0.511981 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*5430C>G) ENSG00000253771 Na Na Na Na Na Na Het;G>C 668;15|20 Ref Hom;G>C 1004;0|26 N N - 13 25505593 25505593 T G snp ncRNA_exonic TPTE2P1 rs9553473 0.253395 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*3221A>C) ENSG00000253771 Na Na Na Na Na Na Het;T>G 2745;100|117 Ref Hom;T>G 6500;7|240 N N - 13 25507061 25507061 C CCA indel ncRNA_exonic TPTE2P1 rs398021972 0.317692 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*1753G>TGG) ENSG00000253771 Na Na Na Na Na Na Het;+CA 4320;102|111 Ref Hom;+CA 6502;4|146 N N - 13 25507074 25507074 A AT indel ncRNA_exonic TPTE2P1 rs36034264 0.249201 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*1740T>AT) ENSG00000253771 Na Na Na Na Na Na Het;+T 3700;114|119 Ref Hom;+T 5840;6|160 N N - 13 25507339 25507339 T A snp ncRNA_exonic TPTE2P1 rs8002258 0.249201 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*1475A>T) ENSG00000253771 Na Na Na Na Na Na Het;T>A 3745;172|162 Ref Hom;T>A 6738;6|245 N N - 13 25507354 25507354 A G snp ncRNA_exonic TPTE2P1 rs7997570 0.249201 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*1460T>C) ENSG00000253771 Na Na Na Na Na Na Het;A>G 4266;170|171 Ref Hom;A>G 7563;4|255 N N - 13 25508701 25508701 C T snp ncRNA_exonic TPTE2P1 rs2053922 0.234625 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic TPTE2P1 TPTE2P1(uc010tdh.2:c.*113G>A) ENSG00000253771 Na Na Na Na Na Na Het;C>T 1094;46|50 Ref Hom;C>T 2420;0|89 N N - 13 25525327 25525327 G GA indel ncRNA_intronic TPTE2P1 rs139677331 0 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TPTE2P1 TPTE2P1 ENSG00000253771 Na Na Na Na Na Na Het;+A 90;4|6 Ref Hom;+A 155;0|7 N N - 13 25528833 25528833 T G snp ncRNA_intronic TPTE2P1 rs9507436 0.856629 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TPTE2P1 TPTE2P1 ENSG00000253771 Na Na Na Na Na Na Het;T>G 219;8|9 Ref Hom;T>G 215;0|8 N N - 13 25825889 25825889 T C snp synonymous SNV A1503G Q501Q polar,hydrophilic,neutral polar,hydrophilic,neutral MTMR6 Mtmr6 ENSG00000139505 myotubularin related protein 6 chr13:25802307-25862147 Synthesis of PIPs at the plasma membrane GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR6 https://www.uniprot.org/uniprot/Q9Y217 https://www.ncbi.nlm.nih.gov/omim/?term=603561 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6 rs4312169 0.598442 0.6796 0.7476 1 0 0 exonic exonic exonic MTMR6 MTMR6 ENSG00000139505 synonymous SNV synonymous SNV unknown MTMR6:NM_004685:exon13:c.A1503G:p.Q501Q, MTMR6:uc001uqf.4:exon13:c.A1503G:p.Q501Q,MTMR6:uc001uqe.1:exon13:c.A1503G:p.Q501Q, UNKNOWN Het;T>C 673;47|30 Het;T>C 874;40|42 Hom;T>C 1871;0|71 N N - 13 25831888 25831888 T C snp nonsynonymous SNV A955G I319V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MTMR6 Mtmr6 ENSG00000139505 myotubularin related protein 6 chr13:25802307-25862147 Synthesis of PIPs at the plasma membrane GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR6 https://www.uniprot.org/uniprot/Q9Y217 https://www.ncbi.nlm.nih.gov/omim/?term=603561 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6 rs7995033 0.492212 0.6352 0.6992 0.38 5 13 exonic exonic exonic MTMR6 MTMR6 ENSG00000139505 nonsynonymous SNV nonsynonymous SNV unknown MTMR6:NM_004685:exon8:c.A955G:p.I319V, MTMR6:uc001uqf.4:exon8:c.A955G:p.I319V,MTMR6:uc021rhi.1:exon3:c.A337G:p.I113V,MTMR6:uc001uqe.1:exon8:c.A955G:p.I319V, UNKNOWN Het;T>C 852;43|41 Het;T>C 927;62|46 Hom;T>C 3247;1|123 N N - 13 25841842 25841842 T A snp intronic MTMR6 Mtmr6 ENSG00000139505 myotubularin related protein 6 chr13:25802307-25862147 Synthesis of PIPs at the plasma membrane GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR6 https://www.uniprot.org/uniprot/Q9Y217 https://www.ncbi.nlm.nih.gov/omim/?term=603561 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6 rs4594103 0.622804 0 0 1 0 0 intronic intronic intronic MTMR6 MTMR6 ENSG00000139505 Na Na Na Na Na Na Het;T>A 310;18|12 Het;T>A 336;17|15 Hom;T>A 1356;0|43 N N - 13 26043405 26043405 T C snp intronic ATP8A2 Atp8a2 ENSG00000132932 ATPase phospholipid transporting 8A2 chr13:25946209-26599989 The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; Body Weight; Subcutaneous Fat Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. Ion transport by P-type ATPases GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2 https://www.uniprot.org/uniprot/Q9NTI2 https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605870 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2 rs77815308 0.151358 0 0 1 0 0 intronic intronic intronic ATP8A2 ATP8A2 ENSG00000132932 Na Na Na Na Na Na Het;T>C 226;3|7 Ref Hom;T>C 481;0|15 N N - 13 26107591 26107591 A C snp intronic ATP8A2 Atp8a2 ENSG00000132932 ATPase phospholipid transporting 8A2 chr13:25946209-26599989 The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; Body Weight; Subcutaneous Fat Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. Ion transport by P-type ATPases GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2 https://www.uniprot.org/uniprot/Q9NTI2 https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605870 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2 rs45451496 0.16873 0 0 1 0 0 intronic intronic intronic ATP8A2 ATP8A2 ENSG00000132932 Na Na Na Na Na Na Het;A>C 188;5|6 Ref Hom;A>C 332;0|8 N N - 13 26125651 26125651 G A snp intronic ATP8A2 Atp8a2 ENSG00000132932 ATPase phospholipid transporting 8A2 chr13:25946209-26599989 The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; Body Weight; Subcutaneous Fat Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. Ion transport by P-type ATPases GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2 https://www.uniprot.org/uniprot/Q9NTI2 https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605870 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2 rs34018109 0.168331 0.2851 0.2825 1 0 0 intronic intronic intronic ATP8A2 ATP8A2 ENSG00000132932 Na Na Na Na Na Na Het;G>A 1011;51|40 Ref Hom;G>A 3735;0|130 N N - 13 26133009 26133009 C T snp intronic ATP8A2 Atp8a2 ENSG00000132932 ATPase phospholipid transporting 8A2 chr13:25946209-26599989 The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; Body Weight; Subcutaneous Fat Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. Ion transport by P-type ATPases GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2 https://www.uniprot.org/uniprot/Q9NTI2 https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605870 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2 rs12862551 0.400559 0 0 1 0 0 intronic intronic intronic ATP8A2 ATP8A2 ENSG00000132932 Na Na Na Na Na Na Het;C>T 100;7|4 Ref Hom;C>T 304;0|10 N N - 13 26144896 26144896 C T snp intronic ATP8A2 Atp8a2 ENSG00000132932 ATPase phospholipid transporting 8A2 chr13:25946209-26599989 The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; Body Weight; Subcutaneous Fat Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. Ion transport by P-type ATPases GO:0003011;involuntary skeletal muscle contraction;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007409;axonogenesis;IEA|GO:0007568;aging;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010842;retina layer formation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0015914;phospholipid transport;IEA|GO:0031175;neuron projection development;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042755;eating behavior;IEA|GO:0043588;skin development;IEA|GO:0045332;phospholipid translocation;IEA|GO:0048666;neuron development;IEA|GO:0050884;neuromuscular process controlling posture;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA|GO:0061092;positive regulation of phospholipid translocation;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8A2 https://www.uniprot.org/uniprot/Q9NTI2 https://hpo.jax.org/app/browse/search?q=ATP8A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605870 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8A2&submit=Quick%0D%6765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8A2 rs17729346 0.174321 0.3005 0.3114 1 0 0 intronic intronic intronic ATP8A2 ATP8A2 ENSG00000132932 Na Na Na Na Na Na Het;C>T 773;51|38 Ref Hom;C>T 2649;2|100 N N - 13 26690069 26690069 G A snp ncRNA_intronic ATP8A2P3 rs6491104 0.770767 0 0 1 0 0 intergenic intergenic ncRNA_intronic SHISA2(dist=64871),RNF6(dist=96836) SHISA2(dist=64871),RNF6(dist=16184) ENSG00000233963 Na Na Na Na Na Na Het;G>A 834;30|36 Het;G>A 923;38|44 Hom;G>A 2335;0|91 N N - 13 26693061 26693061 C T snp ncRNA_splicing PRUNEP1 rs4769468 0.794129 0 0 1 0 0 intergenic intergenic ncRNA_splicing SHISA2(dist=67863),RNF6(dist=93844) SHISA2(dist=67863),RNF6(dist=13192) ENSG00000234706(ENST00000425846:exon2:c.40+2G>A) Na Na Na Na Na Na Het;C>T 265;16|14 Het;C>T 293;24|18 Hom;C>T 861;0|30 N N - 13 26811273 26811273 G A snp downstream THAP12P6 rs9551251 0.367013 0 0 1 0 0 intergenic intergenic downstream RNF6(dist=14765),CDK8(dist=17483) RNF6(dist=14765),CDK8(dist=17483) ENSG00000227882 Na Na Na Na Na Na Het;G>A 58;10|4 Ref Hom;G>A 140;0|5 N N - 13 27049613 27049613 G A snp intergenic CDK8 Cdk8 ENSG00000132964 cyclin dependent kinase 8 chr13:26828276-26979375 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the 'Mediator-like' protein complexes and the basal transcription machinery. [provided by RefSeq, Jul 2008] Exercise Test; Hippocampus; Lipoproteins, VLDL; Mental Competency; Body Fat Distribution Mice homozygous for a gene-trapped allele die prior to implantation exhibiting fragmented blastomeres and failure to undergo compaction. Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007346;regulation of mitotic cell cycle;IBA|GO:0016310;phosphorylation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016592;mediator complex;IDA|GO:0043234;protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDK8 https://www.uniprot.org/uniprot/P49336 https://www.ncbi.nlm.nih.gov/omim/?term=603184 http://www.informatics.jax.org/searchtool/Search.do?query=CDK8&submit=Quick%0D%6772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK8 rs59235063 0.155351 0 0 1 0 0 intergenic intergenic intergenic CDK8(dist=71044),WASF3(dist=82227) CDK8(dist=71044),WASF3(dist=82227) ENSG00000132964(dist=70238),ENSG00000132970(dist=82227) Na Na Na Na Na Na Het;G>A 83;6|4 Ref Hom;G>A 109;0|4 N N - 13 27757718 27757718 G A snp downstream USP12-AS2 rs2281978 0.692692 0 0 1 0 0 downstream intergenic downstream USP12-AS2 USP12(dist=11685),RPL21(dist=67974) ENSG00000230641 Na Na Na Na Na Na Het;G>A 389;11|12 Het;G>A 380;5|12 Hom;G>A 560;0|16 N N - 13 28239940 28239940 G C snp synonymous SNV G219C A73A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral POLR1D Polr1d ENSG00000186184 RNA polymerase I subunit D chr13:28194903-28241548 The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] kidney aging; Kidney Diseases; hypertension; Lymphoma, Large B-Cell, Diffuse; Cholesterol; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice homozygous for a knock-out allele show complete embryonic lethality before implantation associated with increased cell death and failure of blastocyst formation. RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005736;DNA-directed RNA polymerase I complex;IEA|GO:0005829;cytosol;TAS GO:0001054;RNA polymerase I activity;IBA|GO:0001056;RNA polymerase III activity;IBA|GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLR1D https://hpo.jax.org/app/browse/search?q=POLR1D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613715 http://www.informatics.jax.org/searchtool/Search.do?query=POLR1D&submit=Quick%0D%15586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR1D rs11029 0.257788 0.2657 0.3506 1 0 0 exonic exonic exonic POLR1D POLR1D ENSG00000186184 synonymous SNV synonymous SNV unknown POLR1D:NM_152705:exon3:c.G219C:p.A73A,POLR1D:NM_001206559:exon3:c.G135C:p.A45A, POLR1D:uc001urp.3:exon3:c.G219C:p.A73A,POLR1D:uc010aam.3:exon3:c.G135C:p.A45A, UNKNOWN Het;G>C 1468;59|62 Het;G>C 633;60|34 Hom;G>C 2563;0|94 N N - 13 28239970 28239970 G A snp synonymous SNV G249A P83P hydrophobic,neutral hydrophobic,neutral POLR1D Polr1d ENSG00000186184 RNA polymerase I subunit D chr13:28194903-28241548 The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] kidney aging; Kidney Diseases; hypertension; Lymphoma, Large B-Cell, Diffuse; Cholesterol; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice homozygous for a knock-out allele show complete embryonic lethality before implantation associated with increased cell death and failure of blastocyst formation. RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045815;positive regulation of gene expression, epigenetic;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005736;DNA-directed RNA polymerase I complex;IEA|GO:0005829;cytosol;TAS GO:0001054;RNA polymerase I activity;IBA|GO:0001056;RNA polymerase III activity;IBA|GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLR1D https://hpo.jax.org/app/browse/search?q=POLR1D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613715 http://www.informatics.jax.org/searchtool/Search.do?query=POLR1D&submit=Quick%0D%15586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR1D rs14105 0.371805 0.3593 0.4309 1 0 0 exonic exonic exonic POLR1D POLR1D ENSG00000186184 synonymous SNV synonymous SNV unknown POLR1D:NM_152705:exon3:c.G249A:p.P83P,POLR1D:NM_001206559:exon3:c.G165A:p.P55P, POLR1D:uc001urp.3:exon3:c.G249A:p.P83P,POLR1D:uc010aam.3:exon3:c.G165A:p.P55P, UNKNOWN Het;G>A 1449;75|69 Het;G>A 553;65|32 Hom;G>A 3156;0|116 N N - 13 28270611 28270611 C T snp ncRNA_exonic NPM1P4 rs9319387 0.386382 0 0 1 0 0 intergenic intergenic ncRNA_exonic POLR1D(dist=29052),GSX1(dist=96169) POLR1D(dist=29052),GSX1(dist=96169) ENSG00000226703 Na Na Na Na Na Na Het;C>T 361;23|18 Ref Hom;C>T 1646;0|59 N N - 13 28893484 28893484 T C snp intronic FLT1 Flt1 ENSG00000102755 fms related tyrosine kinase 1 chr13:28874489-29069265 This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009] pregnancy loss; Exercise Test; Cell Transformation, Neoplastic|Melanoma|Skin Neoplasms; Bronchial Hyperreactivity|Hypersensitivity, Immediate; Neovascularization, Pathologic|Scleroderma, Systemic; Subcutaneous Fat; Cholesterol, HDL; Pre-Eclampsia; Body Weight; Lymphoma, Non-Hodgkin; Hip; colorectal cancer; Alcohol Drinking; Type 2 Diabetes| edema | rosiglitazone; Sarcoidosis; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Hypercholesterolemia|LDLC levels; Cognitive performance; Psychomotor Performance; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; intrauterine growth restriction; Bone Mineral Density; Bacterial Vaginosis|Premature Birth|Vaginosis, Bacterial Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage. VEGF binds to VEGFR leading to receptor dimerization GO:0001525;angiogenesis;IEA|GO:0002548;monocyte chemotaxis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0006935;chemotaxis;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010863;positive regulation of phospholipase C activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IMP|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0036323;vascular endothelial growth factor receptor-1 signaling pathway;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048598;embryonic morphogenesis;ISS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0036326;VEGF-A-activated receptor activity;IDA|GO:0036327;VEGF-B-activated receptor activity;IDA|GO:0036332;placental growth factor-activated receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLT1 https://www.uniprot.org/uniprot/P17948 https://www.ncbi.nlm.nih.gov/omim/?term=165070 http://www.informatics.jax.org/searchtool/Search.do?query=FLT1&submit=Quick%0D%2905ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT1 rs2296188 0.648962 0 0 1 0 0 intronic intronic intronic FLT1 FLT1 ENSG00000102755 Na Na Na Na Na Na Het;T>C 336;13|12 Het;T>C 176;9|7 Hom;T>C 619;0|18 N N - 13 29881388 29881388 A G snp ncRNA_exonic GAPDHP69 rs3011456 0.708067 0 0 1 0 0 intronic intronic ncRNA_exonic MTUS2 MTUS2 ENSG00000223460 Na Na Na Na Na Na Het;A>G 109;3|5 Het;A>G 52;11|4 Hom;A>G 314;0|12 N N - 13 30688945 30688945 A AGGCGGCGGCGGC indel intergenic LINC00544 rs200809994 0.713858 0 0 1 0 0 intergenic intergenic intergenic LINC00544(dist=164320),KATNAL1(dist=87822) LINC00544(dist=164320),KATNAL1(dist=87822) ENSG00000224511(dist=5933),ENSG00000232117(dist=37078) Na Na Na Na Na Na Het;+GGCGGCGGCGGC 125;2|4 Het;+GGCGGCGGCGGC 209;2|6 Hom;+GGCGGCGGCGGC 157;0|5 N N - 13 31231513 31231513 C T snp intronic USPL1 Uspl1 ENSG00000132952 ubiquitin specific peptidase like 1 chr13:31191830-31233686 GO:0006508;proteolysis;IEA|GO:0008283;cell proliferation;IMP|GO:0016926;protein desumoylation;IDA|GO:0030576;Cajal body organization;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0015030;Cajal body;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032183;SUMO binding;IDA|GO:0070140;SUMO-specific isopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/USPL1 https://www.uniprot.org/uniprot/Q5W0Q7 https://www.ncbi.nlm.nih.gov/omim/?term=617470 http://www.informatics.jax.org/searchtool/Search.do?query=USPL1&submit=Quick%0D%6768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USPL1 rs7983138 0.476637 0 0 1 0 0 intronic intronic intronic USPL1 USPL1 ENSG00000132952 Na Na Na Na Na Na Het;C>T 252;5|8 Het;C>T 141;5|5 Hom;C>T 139;0|5 N N - 13 31231806 31231806 T C snp nonsynonymous SNV T1592C L531S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral USPL1 Uspl1 ENSG00000132952 ubiquitin specific peptidase like 1 chr13:31191830-31233686 GO:0006508;proteolysis;IEA|GO:0008283;cell proliferation;IMP|GO:0016926;protein desumoylation;IDA|GO:0030576;Cajal body organization;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0015030;Cajal body;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032183;SUMO binding;IDA|GO:0070140;SUMO-specific isopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/USPL1 https://www.uniprot.org/uniprot/Q5W0Q7 https://www.ncbi.nlm.nih.gov/omim/?term=617470 http://www.informatics.jax.org/searchtool/Search.do?query=USPL1&submit=Quick%0D%6768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USPL1 rs7984952 0.478634 0.5341 0.4197 0.15 2 13 exonic exonic exonic USPL1 USPL1 ENSG00000132952 nonsynonymous SNV nonsynonymous SNV unknown USPL1:NM_005800:exon9:c.T1592C:p.L531S, USPL1:uc001utc.2:exon9:c.T1592C:p.L531S,USPL1:uc001ute.1:exon6:c.T605C:p.L202S,USPL1:uc001utd.2:exon7:c.T605C:p.L202S, UNKNOWN Het;T>C 1437;88|62 Het;T>C 1286;56|53 Hom;T>C 5659;0|190 N N - 13 31233063 31233063 G A snp nonsynonymous SNV G2849A S950N polar,hydrophilic,neutral polar,hydrophilic,neutral USPL1 Uspl1 ENSG00000132952 ubiquitin specific peptidase like 1 chr13:31191830-31233686 GO:0006508;proteolysis;IEA|GO:0008283;cell proliferation;IMP|GO:0016926;protein desumoylation;IDA|GO:0030576;Cajal body organization;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0015030;Cajal body;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0032183;SUMO binding;IDA|GO:0070140;SUMO-specific isopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/USPL1 https://www.uniprot.org/uniprot/Q5W0Q7 https://www.ncbi.nlm.nih.gov/omim/?term=617470 http://www.informatics.jax.org/searchtool/Search.do?query=USPL1&submit=Quick%0D%6768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USPL1 rs3742302 0.474641 0.5310 0.4178 0.23 3 13 exonic exonic exonic USPL1 USPL1 ENSG00000132952 nonsynonymous SNV nonsynonymous SNV unknown USPL1:NM_005800:exon9:c.G2849A:p.S950N, USPL1:uc001utc.2:exon9:c.G2849A:p.S950N,USPL1:uc001ute.1:exon6:c.G1862A:p.S621N,USPL1:uc001utd.2:exon7:c.G1862A:p.S621N, UNKNOWN Het;G>A 989;84|45 Het;G>A 1050;49|48 Hom;G>A 3038;0|107 N N - 13 31850989 31850989 G A snp intronic B3GALTL rs4065552 0.650958 0 0 1 0 0 intronic intronic intronic B3GALTL B3GALTL ENSG00000187676 Na Na Na Na Na Na Het;G>A 623;18|22 Het;G>A 449;11|18 Hom;G>A 1044;0|33 N N - 13 31891746 31891746 G A snp nonsynonymous SNV G1108A E370K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) B3GALTL rs1041073 0.666733 0.6554 0.7425 0.46 6 13 exonic exonic exonic B3GALTL B3GALTL ENSG00000187676 nonsynonymous SNV nonsynonymous SNV unknown B3GALTL:NM_194318:exon13:c.G1108A:p.E370K, B3GALTL:uc010aaz.3:exon13:c.G1108A:p.E370K, UNKNOWN Het;G>A 1333;32|58 Het;G>A 602;34|31 Hom;G>A 2585;0|99 N N - 13 31903834 31903834 G T snp UTR3 *29G>T B3GLCT B3glct rs1060709 0.487021 0.5923 0.6399 1 0 0 UTR3 UTR3 UTR3 B3GALTL(NM_194318:c.*29G>T) B3GALTL(uc010aaz.3:c.*29G>T) ENSG00000187676(ENST00000343307:c.*29G>T) Na Na Na Na Na Na Het;G>T 589;33|28 Het;G>T 449;30|20 Hom;G>T 1100;0|40 N N - 13 32332680 32332680 T C snp intronic RXFP2 Rxfp2 ENSG00000133105 relaxin/insulin like family peptide receptor 2 chr13:32313674-32377009 This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] null; cryptochidism; Cryptorchidism; Cryptorchidism|Klinefelter Syndrome; cryptorchidism Male homozygotes for a targeted null mutation exhibit bilateral intraabdominal cryptorchidism and sterility associated with a failure in the differentiation of the gubernaculae, ligaments that control testicular movement during development. Relaxin receptors GO:0001556;oocyte maturation;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016500;protein-hormone receptor activity;IEA|GO:0017046;peptide hormone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RXFP2 https://www.uniprot.org/uniprot/Q8WXD0 https://www.ncbi.nlm.nih.gov/omim/?term=606655 http://www.informatics.jax.org/searchtool/Search.do?query=RXFP2&submit=Quick%0D%6794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RXFP2 rs1571312 0.278954 0 0 1 0 0 intronic intronic intronic RXFP2 RXFP2 ENSG00000133105 Na Na Na Na Na Na Het;T>C 245;14|10 Het;T>C 116;8|5 Hom;T>C 297;0|9 N N - 13 32336040 32336040 C T snp intronic RXFP2 Rxfp2 ENSG00000133105 relaxin/insulin like family peptide receptor 2 chr13:32313674-32377009 This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] null; cryptochidism; Cryptorchidism; Cryptorchidism|Klinefelter Syndrome; cryptorchidism Male homozygotes for a targeted null mutation exhibit bilateral intraabdominal cryptorchidism and sterility associated with a failure in the differentiation of the gubernaculae, ligaments that control testicular movement during development. Relaxin receptors GO:0001556;oocyte maturation;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016500;protein-hormone receptor activity;IEA|GO:0017046;peptide hormone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RXFP2 https://www.uniprot.org/uniprot/Q8WXD0 https://www.ncbi.nlm.nih.gov/omim/?term=606655 http://www.informatics.jax.org/searchtool/Search.do?query=RXFP2&submit=Quick%0D%6794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RXFP2 rs1536635 0.284545 0 0 1 0 0 intronic intronic intronic RXFP2 RXFP2 ENSG00000133105 Na Na Na Na Na Na Het;C>T 205;9|8 Het;C>T 359;12|14 Hom;C>T 685;0|21 N N - 13 32421130 32421130 G T snp ncRNA_intronic EEF1DP3 rs623578 0.240415 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic EEF1DP3 EEF1DP3 ENSG00000229715 Na Na Na Na Na Na Het;G>T 134;12|6 Het;G>T 402;14|19 Hom;G>T 642;0|24 N N - 13 32811607 32811607 G A snp nonsynonymous SNV G5902A G1968S aliphatic,neutral polar,hydrophilic,neutral FRY Fry ENSG00000073910 FRY microtubule binding protein chr13:32605437-32870794 Thyrotropin; Tobacco Use Disorder; Body Fat Distribution; benzene haematotoxicity; Fibrinogen GO:0000902;cell morphogenesis;IBA|GO:0031175;neuron projection development;IBA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0090527;actin filament reorganization;IBA|GO:1904428;negative regulation of tubulin deacetylation;IEA GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IBA|GO:0030427;site of polarized growth;IBA GO:0004857;enzyme inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRY https://www.uniprot.org/uniprot/Q5TBA9 https://www.ncbi.nlm.nih.gov/omim/?term=614818 http://www.informatics.jax.org/searchtool/Search.do?query=FRY&submit=Quick%0D%1486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRY rs2806639 0.215855 0.3159 0.2811 0.40 4 10 exonic exonic exonic FRY FRY ENSG00000073910 nonsynonymous SNV nonsynonymous SNV unknown FRY:NM_023037:exon44:c.G5902A:p.G1968S, FRY:uc001utx.3:exon44:c.G5902A:p.G1968S,FRY:uc010tdw.3:exon44:c.G2080A:p.G694S, UNKNOWN Het;G>A 3135;94|129 Het;G>A 1992;79|96 Hom;G>A 5126;0|191 N N - 13 32818070 32818070 A G snp intronic FRY Fry ENSG00000073910 FRY microtubule binding protein chr13:32605437-32870794 Thyrotropin; Tobacco Use Disorder; Body Fat Distribution; benzene haematotoxicity; Fibrinogen GO:0000902;cell morphogenesis;IBA|GO:0031175;neuron projection development;IBA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0090527;actin filament reorganization;IBA|GO:1904428;negative regulation of tubulin deacetylation;IEA GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IBA|GO:0030427;site of polarized growth;IBA GO:0004857;enzyme inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRY https://www.uniprot.org/uniprot/Q5TBA9 https://www.ncbi.nlm.nih.gov/omim/?term=614818 http://www.informatics.jax.org/searchtool/Search.do?query=FRY&submit=Quick%0D%1486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRY rs2806624 0.127796 0 0 1 0 0 intronic intronic intronic FRY FRY ENSG00000073910 Na Na Na Na Na Na Het;A>G 548;23|17 Het;A>G 519;15|19 Hom;A>G 993;0|31 N N - 13 33485381 33485381 G A snp ncRNA_exonic LINC00423 rs4941700 0.360224 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00423 LINC00423 ENSG00000226968 Na Na Na Na Na Na Het;G>A 1694;112|73 Het;G>A 2363;87|104 Hom;G>A 6130;0|221 N N - 13 33853684 33853684 G T snp ncRNA_exonic STARD13-AS rs2321169 0.645966 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic STARD13-AS STARD13-AS ENSG00000236581 Na Na Na Na Na Na Het;G>T 889;53|46 Het;G>T 848;103|44 Hom;G>T 3432;2|127 N N - 13 33855398 33855398 C T snp ncRNA_exonic STARD13-AS rs1059180 0.646765 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic STARD13-AS STARD13-AS ENSG00000236581 Na Na Na Na Na Na Het;C>T 669;24|27 Het;C>T 757;53|37 Hom;C>T 2517;1|91 N N - 13 34590274 34590274 T G snp intergenic RFC3 Rfc3 ENSG00000133119 replication factor C subunit 3 chr13:34392186-34540695 The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Hypertrophy, Left Ventricular; Graft vs Host Disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Alzheimer's Disease; Cholesterol, HDL; Coronary Disease; Hematologic Neoplasms; Stroke; Cholesterol, LDL; Lipids; Triglycerides; Apolipoproteins C; Body Weights and Measures G2/M DNA damage checkpoint GO:0000722;telomere maintenance via recombination;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0006260;DNA replication;TAS|GO:0006271;DNA strand elongation involved in DNA replication;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0042276;error-prone translesion synthesis;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0046683;response to organophosphorus;IEP|GO:0070987;error-free translesion synthesis;TAS|GO:1900264;positive regulation of DNA-directed DNA polymerase activity;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005663;DNA replication factor C complex;IDA|GO:0031390;Ctf18 RFC-like complex;IDA GO:0003677;DNA binding;IDA|GO:0003689;DNA clamp loader activity;IDA|GO:0005515;protein binding;IPI|GO:0016887;ATPase activity;IDA|GO:0043142;single-stranded DNA-dependent ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/RFC3 https://www.uniprot.org/uniprot/P40938 https://www.ncbi.nlm.nih.gov/omim/?term=600405 http://www.informatics.jax.org/searchtool/Search.do?query=RFC3&submit=Quick%0D%6803ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFC3 rs4943177 0.516174 0 0 1 0 0 intergenic intergenic intergenic RFC3(dist=49579),LINC00457(dist=419317) RFC3(dist=49579),LINC00457(dist=419317) ENSG00000133119(dist=49579),ENSG00000227254(dist=66292) Na Na Na Na Na Na Het;T>G 702;24|31 Het;T>G 536;46|31 Hom;T>G 2590;1|97 N N - 13 34790126 34790126 T A snp intergenic RFC3 Rfc3 ENSG00000133119 replication factor C subunit 3 chr13:34392186-34540695 The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Hypertrophy, Left Ventricular; Graft vs Host Disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Alzheimer's Disease; Cholesterol, HDL; Coronary Disease; Hematologic Neoplasms; Stroke; Cholesterol, LDL; Lipids; Triglycerides; Apolipoproteins C; Body Weights and Measures G2/M DNA damage checkpoint GO:0000722;telomere maintenance via recombination;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0006260;DNA replication;TAS|GO:0006271;DNA strand elongation involved in DNA replication;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0019985;translesion synthesis;TAS|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0042276;error-prone translesion synthesis;TAS|GO:0042769;DNA damage response, detection of DNA damage;TAS|GO:0046683;response to organophosphorus;IEP|GO:0070987;error-free translesion synthesis;TAS|GO:1900264;positive regulation of DNA-directed DNA polymerase activity;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005663;DNA replication factor C complex;IDA|GO:0031390;Ctf18 RFC-like complex;IDA GO:0003677;DNA binding;IDA|GO:0003689;DNA clamp loader activity;IDA|GO:0005515;protein binding;IPI|GO:0016887;ATPase activity;IDA|GO:0043142;single-stranded DNA-dependent ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/RFC3 https://www.uniprot.org/uniprot/P40938 https://www.ncbi.nlm.nih.gov/omim/?term=600405 http://www.informatics.jax.org/searchtool/Search.do?query=RFC3&submit=Quick%0D%6803ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFC3 rs9540123 0.256989 0 0 1 0 0 intergenic intergenic intergenic RFC3(dist=249431),LINC00457(dist=219465) RFC3(dist=249431),LINC00457(dist=219465) ENSG00000199196(dist=115151),ENSG00000271850(dist=132054) Na Na Na Na Na Na Het;T>A 313;24|19 Het;T>A 333;8|17 Hom;T>A 580;0|24 N N - 13 36311062 36311062 T C snp ncRNA_intronic MIR548F5 rs4943327 0.552117 0 0 1 0 0 ncRNA_intronic intronic intergenic MIR548F5 MIR548F5 ENSG00000236036(dist=37669),ENSG00000133083(dist=34416) Na Na Na Na Na Na Het;T>C 549;51|32 Het;T>C 769;38|33 Hom;T>C 1969;0|75 N N - 13 36311094 36311094 C T snp ncRNA_intronic MIR548F5 rs4943328 0.551518 0 0 1 0 0 ncRNA_intronic intronic intergenic MIR548F5 MIR548F5 ENSG00000236036(dist=37701),ENSG00000133083(dist=34384) Na Na Na Na Na Na Het;C>T 835;47|24 Het;C>T 1045;34|28 Hom;C>T 2717;0|61 N N - 13 36311095 36311095 A G snp ncRNA_intronic MIR548F5 rs4943329 0.551518 0 0 1 0 0 ncRNA_intronic intronic intergenic MIR548F5 MIR548F5 ENSG00000236036(dist=37702),ENSG00000133083(dist=34383) Na Na Na Na Na Na Het;A>G 835;47|24 Het;A>G 1045;34|28 Hom;A>G 2717;0|61 N N - 13 36311104 36311104 C G snp ncRNA_intronic MIR548F5 rs4943330 0.551518 0 0 1 0 0 ncRNA_intronic intronic intergenic MIR548F5 MIR548F5 ENSG00000236036(dist=37711),ENSG00000133083(dist=34374) Na Na Na Na Na Na Het;C>G 832;49|23 Het;C>G 1070;33|29 Hom;C>G 2717;0|61 N N - 13 36788529 36788529 C T snp intronic CCDC169-SOHLH2 Sohlh2 ENSG00000250709 CCDC169-SOHLH2 readthrough chr13:36742931-36871979 This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] Homozygous inactivation of this gene leads to female and male infertility due to defects in early oocyte and spermatogonial differentiation. http://www.genecards.org/index.php?path=/Search/keyword/CCDC169-SOHLH2 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169-SOHLH2&submit=Quick%0D%19974ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169-SOHLH2 rs3762116 0.367612 0 0 1 0 0 intronic intronic intronic CCDC169-SOHLH2,SOHLH2 CCDC169-SOHLH2,SOHLH2 ENSG00000120669,ENSG00000250709 Na Na Na Na Na Na Het;C>T 519;25|21 Het;C>T 321;13|12 Hom;C>T 512;0|18 N N - 13 36801256 36801256 T C snp UTR3 *82A>G CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9546784 0.376198 0 0 1 0 0 UTR3 UTR3 intronic CCDC169(NM_001144984:c.*82A>G,NM_001144983:c.*82A>G,NM_001144982:c.*82A>G,NM_001198908:c.*82A>G) CCDC169(uc010tem.2:c.*82A>G,uc010tek.2:c.*82A>G,uc010tej.2:c.*82A>G,uc010tel.2:c.*82A>G) ENSG00000120669,ENSG00000250709 Na Na Na Na Na Na Het;T>C 311;4|11 Ref Hom;T>C 384;0|13 N N - 13 36801415 36801415 C T snp nonsynonymous SNV G343A G115R aliphatic,neutral polar,hydrophilic,charged(+) CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9546785 0.377596 0.4120 0.4436 0.36 4 11 exonic exonic exonic CCDC169 CCDC169 ENSG00000242715 nonsynonymous SNV nonsynonymous SNV unknown CCDC169:NM_001144984:exon6:c.G349A:p.G117R,CCDC169:NM_001198908:exon8:c.G649A:p.G217R,CCDC169:NM_001144982:exon7:c.G343A:p.G115R,CCDC169:NM_001144983:exon7:c.G343A:p.G115R, CCDC169:uc010tej.2:exon7:c.G343A:p.G115R,CCDC169:uc010tek.2:exon7:c.G343A:p.G115R,CCDC169:uc010tem.2:exon8:c.G649A:p.G217R,CCDC169:uc010tel.2:exon6:c.G349A:p.G117R, UNKNOWN Het;C>T 832;35|37 Het;C>T 1022;32|49 Hom;C>T 1829;2|70 N N - 13 36805289 36805290 GA G indel UTR3 *41_*40delinsC CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs67328439 0.365016 0.4071 0.4661 1 0 0 UTR3 UTR3 UTR3 CCDC169(NM_001144986:c.*41_*40delinsC,NM_001144981:c.*41_*40delinsC,NM_001144985:c.*41_*40delinsC) CCDC169(uc010abm.3:c.*41_*40delinsC,uc010abo.3:c.*41_*40delinsC,uc010abn.3:c.*41_*40delinsC) ENSG00000242715(ENST00000510088:c.*41_*40delinsC) Na Na Na Na Na Na Het;-A 387;30|22 Het;-A 375;16|20 Hom;-A 979;0|40 N N - 13 36822711 36822711 G T snp intronic CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9315402 0.375799 0 0.4440 1 0 0 intronic intronic intronic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 Na Na Na Na Na Na Het;G>T 337;22|17 Het;G>T 523;24|25 Hom;G>T 1456;0|51 N N - 13 36822849 36822849 C T snp intronic CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9315403 0.375799 0.4095 0.4459 1 0 0 intronic intronic intronic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 Na Na Na Na Na Na Het;C>T 421;17|22 Het;C>T 772;39|39 Hom;C>T 1626;0|58 N N - 13 36822884 36822884 C T snp intronic CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9315404 0.375799 0 0 1 0 0 intronic intronic intronic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 Na Na Na Na Na Na Het;C>T 110;13|7 Het;C>T 383;19|20 Hom;C>T 628;0|21 N N - 13 36827833 36827833 C T snp intronic CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9546886 0.375 0 0 1 0 0 intronic intronic intronic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 Na Na Na Na Na Na Het;C>T 257;5|10 Het;C>T 146;4|6 Hom;C>T 417;0|14 N N - 13 36827896 36827896 C T snp intronic CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9546887 0.375799 0 0.4451 1 0 0 intronic intronic intronic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 Na Na Na Na Na Na Het;C>T 543;34|25 Het;C>T 589;18|27 Hom;C>T 1332;0|51 N N - 13 36828092 36828092 G GTTTTGTAAGCA indel intronic CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs138966884 0.375399 0 0 1 0 0 intronic intronic intronic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 Na Na Na Na Na Na Het;+TTTTGTAAGCA 503;27|14 Het;+TTTTGTAAGCA 553;20|16 Hom;+TTTTGTAAGCA 1566;0|34 N N - 13 36828237 36828237 T C snp nonsynonymous SNV A53G K18R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CCDC169 Ccdc169 ENSG00000242715 coiled-coil domain containing 169 chr13:36801182-36871977 http://www.genecards.org/index.php?path=/Search/keyword/CCDC169 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC169&submit=Quick%0D%19741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC169 rs9546897 0.375799 0 0.4461 0.15 2 13 exonic exonic exonic CCDC169,CCDC169-SOHLH2 CCDC169,CCDC169-SOHLH2 ENSG00000120669,ENSG00000242715,ENSG00000250709 nonsynonymous SNV nonsynonymous SNV unknown CCDC169:NM_001144981:exon5:c.A359G:p.K120R,CCDC169:NM_001144984:exon3:c.A59G:p.K20R,CCDC169:NM_001198908:exon5:c.A359G:p.K120R,CCDC169:NM_001144985:exon4:c.A53G:p.K18R,CCDC169:NM_001144986:exon4:c.A53G:p.K18R,CCDC169:NM_001144982:exon4:c.A53G:p.K18R,CCDC169-SOHLH2:NM_001198910:exon3:c.A59G:p.K20R,CCDC169:NM_001144983:exon4:c.A53G:p.K18R, CCDC169:uc010abn.3:exon4:c.A53G:p.K18R,CCDC169:uc010abm.3:exon5:c.A359G:p.K120R,CCDC169:uc010tej.2:exon4:c.A53G:p.K18R,CCDC169-SOHLH2:uc010tei.2:exon3:c.A59G:p.K20R,CCDC169:uc010tek.2:exon4:c.A53G:p.K18R,CCDC169:uc010abo.3:exon4:c.A53G:p.K18R,CCDC169:uc010tem.2:exon5:c.A359G:p.K120R,CCDC169:uc010tel.2:exon3:c.A59G:p.K20R, UNKNOWN Het;T>C 598;40|32 Het;T>C 478;29|26 Hom;T>C 1358;2|54 N N - 13 36939758 36939758 A G snp ncRNA_intronic SPG20OS rs3736920 0.749002 0 0.7465 1 0 0 ncRNA_intronic ncRNA_intronic intronic SPG20-AS1 SPG20OS ENSG00000120664,ENSG00000133104 Na Na Na Na Na Na Het;A>G 1858;54|75 Het;A>G 1499;50|59 Hom;A>G 3024;0|114 N N - 13 36942533 36942533 G T snp UTR3 *172G>T SPG20-AS1 rs1056850 0.748602 0 0 1 0 0 ncRNA_intronic ncRNA_intronic UTR3 SPG20-AS1 SPG20OS ENSG00000120664(ENST00000379848:c.*172G>T) Na Na Na Na Na Na Het;G>T 359;16|14 Het;G>T 476;18|23 Hom;G>T 626;0|22 N N - 13 36943777 36943777 T C snp ncRNA_exonic SPG20-AS1 rs1886856 0.749002 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic SPG20-AS1 SPG20OS ENSG00000133104 Na Na Na Na Na Na Het;T>C 1457;44|66 Het;T>C 943;39|43 Hom;T>C 3100;0|110 N N - 13 37524255 37524255 A C snp intronic ALG5 Alg5 ENSG00000120697 ALG5, dolichyl-phosphate beta-glucosyltransferase chr13:37523912-37574398 This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Embryos homozygous for an ENU-induced mutation arrest unturned at E9.5 and display no left-right asymmetry. Synthesis of dolichyl-phosphate-glucose GO:0006486;protein glycosylation;TAS|GO:0006487;protein N-linked glycosylation;IBA|GO:0007368;determination of left/right symmetry;IEA|GO:0018279;protein N-linked glycosylation via asparagine;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004576;oligosaccharyl transferase activity;TAS|GO:0004581;dolichyl-phosphate beta-glucosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALG5 https://www.uniprot.org/uniprot/Q9Y673 https://www.ncbi.nlm.nih.gov/omim/?term=604565 http://www.informatics.jax.org/searchtool/Search.do?query=ALG5&submit=Quick%0D%5237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG5 rs3818380 0.313099 0 0 1 0 0 intronic intronic intronic ALG5 ALG5 ENSG00000120697 Na Na Na Na Na Na Het;A>C 437;9|16 Het;A>C 96;10|6 Hom;A>C 542;0|19 N N - 13 37563791 37563791 C T snp intronic ALG5 Alg5 ENSG00000120697 ALG5, dolichyl-phosphate beta-glucosyltransferase chr13:37523912-37574398 This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Embryos homozygous for an ENU-induced mutation arrest unturned at E9.5 and display no left-right asymmetry. Synthesis of dolichyl-phosphate-glucose GO:0006486;protein glycosylation;TAS|GO:0006487;protein N-linked glycosylation;IBA|GO:0007368;determination of left/right symmetry;IEA|GO:0018279;protein N-linked glycosylation via asparagine;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004576;oligosaccharyl transferase activity;TAS|GO:0004581;dolichyl-phosphate beta-glucosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALG5 https://www.uniprot.org/uniprot/Q9Y673 https://www.ncbi.nlm.nih.gov/omim/?term=604565 http://www.informatics.jax.org/searchtool/Search.do?query=ALG5&submit=Quick%0D%5237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG5 rs2243710 0.335064 0 0 1 0 0 intronic intronic intronic ALG5 ALG5 ENSG00000120697 Na Na Na Na Na Na Het;C>T 574;18|20 Het;C>T 616;16|20 Hom;C>T 1816;0|51 N N - 13 37618442 37618443 CA C indel intronic SUPT20H Supt20 ENSG00000102710 SPT20 homolog, SAGA complex component chr13:37583449-37633850 The incompletely penetrant homozygous phenotype of a splice-site mutation may include retinal epithelium expansion over the dorsal half of the eye, exencephaly, spina bifida, gastrulation defects and/or aberrant somite and mesoderm development. A few mutants survive postnatally and appear normal. HATs acetylate histones GO:0006914;autophagy;IEA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA GO:0000124;SAGA complex;IEA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0070461;SAGA-type complex;IDA GO:0003712;transcription cofactor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT20H https://www.uniprot.org/uniprot/Q8NEM7 https://www.ncbi.nlm.nih.gov/omim/?term=613417 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT20H&submit=Quick%0D%2901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT20H rs34587536 0.317692 0 0 1 0 0 intronic intronic intronic SUPT20H SUPT20H ENSG00000102710 Na Na Na Na Na Na Het;-A 203;9|11 Het;-A 191;6|10 Hom;-A 539;0|21 N N - 13 38357024 38357025 AG A indel intronic TRPC4 Trpc4 ENSG00000133107 transient receptor potential cation channel subfamily C member 4 chr13:38210773-38444562 This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] Audiometry, Pure-Tone; Epilepsy, Generalized|Epilepsy, Reflex; Tobacco Use Disorder; Bulimia; Lipoprotein(a); Body Height; Breath Tests; Stroke; Body Mass Index; Echocardiography Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings. Role of second messengers in netrin-1 signaling GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006828;manganese ion transport;IBA|GO:0014051;gamma-aminobutyric acid secretion;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IBA|GO:0055085;transmembrane transport;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005901;caveola;IEA|GO:0005911;cell-cell junction;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030863;cortical cytoskeleton;IDA|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0015279;store-operated calcium channel activity;TAS|GO:0045296;cadherin binding;IPI|GO:0070679;inositol 1,4,5 trisphosphate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPC4 https://www.uniprot.org/uniprot/Q9UBN4 https://www.ncbi.nlm.nih.gov/omim/?term=603651 http://www.informatics.jax.org/searchtool/Search.do?query=TRPC4&submit=Quick%0D%6796ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC4 rs67971290 0.51258 0 0 1 0 0 intronic intronic intronic TRPC4 TRPC4 ENSG00000133107 Na Na Na Na Na Na Het;-G 80;5|5 Ref Hom;-G 496;0|18 N N - 13 38817415 38817415 G A snp intergenic LINC00571 rs2323713 0.435304 0 0 1 0 0 intergenic intergenic intergenic LINC00571(dist=100046),UFM1(dist=106493) LINC00571(dist=100046),UFM1(dist=106527) ENSG00000223685(dist=100046),ENSG00000120686(dist=106573) Na Na Na Na Na Na Het;G>A 420;12|18 Het;G>A 902;11|37 Hom;G>A 1472;0|51 N N - 13 38817503 38817503 C T snp intergenic LINC00571 rs9576488 0.435503 0 0 1 0 0 intergenic intergenic intergenic LINC00571(dist=100134),UFM1(dist=106405) LINC00571(dist=100134),UFM1(dist=106439) ENSG00000223685(dist=100134),ENSG00000120686(dist=106485) Na Na Na Na Na Na Het;C>T 104;1|4 Het;C>T 226;4|8 Hom;C>T 381;0|11 N N - 13 39263023 39263023 C T snp synonymous SNV C1542T A514A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FREM2 Frem2 ENSG00000150893 FRAS1 related extracellular matrix protein 2 chr13:39261266-39460074 This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014] Bilirubin; Cholesterol, HDL; Cytomegalovirus Vaccines; Waist-Hip Ratio; Heart Failure Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. GO:0002009;morphogenesis of an epithelium;IEA|GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0048839;inner ear development;IEA GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM2 https://www.uniprot.org/uniprot/Q5SZK8 https://hpo.jax.org/app/browse/search?q=FREM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608945 http://www.informatics.jax.org/searchtool/Search.do?query=FREM2&submit=Quick%0D%9358ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM2 rs12874397 0.0842652 0.1869 0.1903 1 0 0 exonic exonic exonic FREM2 FREM2 ENSG00000150893 synonymous SNV synonymous SNV unknown FREM2:NM_207361:exon1:c.C1542T:p.A514A, FREM2:uc001uwv.3:exon1:c.C1542T:p.A514A, UNKNOWN Het;C>T 1828;87|79 Het;C>T 1350;61|57 Hom;C>T 4621;0|168 N N - 13 39774309 39774309 C T snp intergenic NHLRC3 Nhlrc3 ENSG00000188811 NHL repeat containing 3 chr13:39612443-39624246 This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012] Echocardiography; Cystatins; Body Fat Distribution Neutrophil degranulation GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/NHLRC3 http://www.informatics.jax.org/searchtool/Search.do?query=NHLRC3&submit=Quick%0D%16116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHLRC3 rs7989670 0.668331 0 0 1 0 0 intergenic intergenic intergenic NHLRC3(dist=150065),LHFP(dist=142720) NHLRC3(dist=150065),LHFP(dist=142720) ENSG00000214823(dist=30221),ENSG00000183722(dist=142720) Na Na Na Na Na Na Het;C>T 43;3|3 Ref Hom;C>T 110;0|5 N N - 13 40229724 40229724 A G snp upstream COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs7327779 0.484425 0 0.5110 1 0 0 upstream upstream upstream COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;A>G 45;3|3 Het;A>G 85;1|3 Hom;A>G 154;0|6 N N - 13 40229842 40229842 A AG indel UTR5 -22A>AG COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs67765306 0.44369 0.3827 0.5669 1 0 0 UTR5 UTR5 UTR5 COG6(NM_001145079:c.-22A>AG,NM_020751:c.-22A>AG) COG6(uc001uxi.2:c.-3662A>AG,uc001uxh.2:c.-22A>AG,uc010acb.2:c.-22A>AG) ENSG00000133103(ENST00000416691:c.-22A>AG,ENST00000542266:c.-22A>AG,ENST00000422759:c.-22A>AG,ENST00000543804:c.-22A>AG,ENST00000543790:c.-22A>AG,ENST00000455146:c.-22A>AG) Na Na Na Na Na Na Het;+G 619;21|25 Het;+G 650;30|27 Hom;+G 1645;0|53 N N - 13 40229891 40229891 G A snp nonsynonymous SNV G28A A10T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs3812882 0.484425 0.4381 0.5648 0.08 1 13 exonic exonic exonic COG6 COG6 ENSG00000133103 nonsynonymous SNV nonsynonymous SNV unknown COG6:NM_001145079:exon1:c.G28A:p.A10T,COG6:NM_020751:exon1:c.G28A:p.A10T, COG6:uc010acb.2:exon1:c.G28A:p.A10T,COG6:uc001uxh.2:exon1:c.G28A:p.A10T, UNKNOWN Het;G>A 966;33|44 Het;G>A 987;45|47 Hom;G>A 2359;0|85 N N - 13 40229957 40229957 T A snp nonsynonymous SNV T94A C32S polar,hydrophobic,neutral polar,hydrophilic,neutral COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs3812883 0.484225 0.4161 0.5132 0.08 1 13 exonic exonic exonic COG6 COG6 ENSG00000133103 nonsynonymous SNV nonsynonymous SNV unknown COG6:NM_001145079:exon1:c.T94A:p.C32S,COG6:NM_020751:exon1:c.T94A:p.C32S, COG6:uc010acb.2:exon1:c.T94A:p.C32S,COG6:uc001uxh.2:exon1:c.T94A:p.C32S, UNKNOWN Het;T>A 1455;68|65 Het;T>A 1660;78|75 Hom;T>A 3471;0|130 N N - 13 40230043 40230043 C T snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs3812884 0.44389 0.3648 0.4757 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;C>T 1215;63|55 Het;C>T 2204;64|65 Hom;C>T 2774;0|96 N N - 13 40230122 40230122 A C snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs3812885 0.484425 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;A>C 501;17|20 Het;A>C 462;26|20 Hom;A>C 1105;0|39 N N - 13 40230216 40230216 G A snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs3812886 0.477436 0 0.5204 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;G>A 125;5|5 Het;G>A 211;5|10 Hom;G>A 352;0|11 N N - 13 40230229 40230229 C T snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs3812887 0.48762 0 0.5230 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;C>T 86;3|5 Het;C>T 81;3|4 Hom;C>T 213;0|7 N N - 13 40233404 40233404 T C snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs7330515 0.667133 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;T>C 281;13|10 Het;T>C 151;5|5 Hom;T>C 478;1|15 N N - 13 40233691 40233691 C T snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs7330016 0.667133 0.6453 0.6886 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;C>T 329;29|16 Het;C>T 776;27|34 Hom;C>T 1626;0|56 N N - 13 40238162 40238162 C G snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs4636783 0.667133 0 0.6620 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;C>G 887;26|23 Het;C>G 522;27|14 Hom;C>G 1797;0|40 N N - 13 40238175 40238175 C T snp ncRNA_exonic MIR4305 rs67976778 0.458267 0 0.4097 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR4305 MIR4305 ENSG00000264171 Na Na Na Na Na Na Het;C>T 904;37|26 Het;C>T 651;28|21 Hom;C>T 2114;0|53 N N - 13 40238387 40238387 T C snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs4566029 0.666933 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;T>C 381;29|18 Het;T>C 375;12|14 Hom;T>C 1470;0|44 N N - 13 40238481 40238481 T C snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs9548871 0.666134 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;T>C 38;6|2 Het;T>C 95;1|3 Hom;T>C 152;0|4 N N - 13 40238483 40238483 G A snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs9548872 0.665935 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;G>A 38;6|2 Het;G>A 95;1|3 Hom;G>A 152;0|4 N N - 13 40238492 40238492 C T snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs9548873 0.666134 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;C>T 38;6|2 Ref Hom;C>T 107;0|3 N N - 13 40239139 40239139 G A snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs7991151 0.666933 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;G>A 311;4|10 Het;G>A 259;5|10 Hom;G>A 309;0|9 N N - 13 40253901 40253901 A G snp intronic COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs4941940 0.667332 0 0 1 0 0 intronic intronic intronic COG6 COG6 ENSG00000133103 Na Na Na Na Na Na Het;A>G 125;6|6 Het;A>G 152;5|5 Hom;A>G 145;0|5 N N - 13 40325310 40325310 C T snp UTR3 *80C>T COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs4245396 0.466454 0 0.5147 1 0 0 UTR3 UTR3 UTR3 COG6(NM_020751:c.*80C>T) COG6(uc001uxi.2:c.*80C>T,uc001uxh.2:c.*80C>T) ENSG00000133103(ENST00000455146:c.*80C>T,ENST00000356576:c.*1891C>T) Na Na Na Na Na Na Het;C>T 581;46|26 Het;C>T 1156;43|52 Hom;C>T 2929;0|103 N N - 13 40326284 40326285 CA C indel UTR3 *1054_*1055delinsC COG6 Cog6 ENSG00000133103 component of oligomeric golgi complex 6 chr13:40229764-40365802 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] psoriasis; Psoriasis; Colitis, Ulcerative; Blood Pressure; Cornea; Alanine Transaminase; Iron Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0015031;protein transport;IEA|GO:0070085;glycosylation;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG6 https://www.uniprot.org/uniprot/Q9Y2V7 https://hpo.jax.org/app/browse/search?q=COG6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606977 http://www.informatics.jax.org/searchtool/Search.do?query=COG6&submit=Quick%0D%6792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG6 rs144577794 0.465855 0 0.5884 1 0 0 UTR3 UTR3 UTR3 COG6(NM_020751:c.*1054_*1055delinsC) COG6(uc001uxi.2:c.*1054_*1055delinsC,uc001uxh.2:c.*1054_*1055delinsC) ENSG00000133103(ENST00000455146:c.*1054_*1055delinsC,ENST00000356576:c.*2865_*2866delinsC) Na Na Na Na Na Na Het;-A 862;17|40 Het;-A 794;27|39 Hom;-A 2257;1|88 N N - 13 41369552 41369552 T A snp intronic SLC25A15 Slc25a15 ENSG00000102743 solute carrier family 25 member 15 chr13:41363548-41384247 This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009] Acquired Immunodeficiency Syndrome|Disease Progression Urea cycle GO:0000050;urea cycle;TAS|GO:0000066;mitochondrial ornithine transport;TAS|GO:0006810;transport;IEA|GO:1903352;L-ornithine transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0000064;L-ornithine transmembrane transporter activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/SLC25A15 https://www.uniprot.org/uniprot/Q9Y619 https://hpo.jax.org/app/browse/search?q=SLC25A15&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603861 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A15&submit=Quick%0D%2903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A15 rs71427424 0.0634984 0 0 1 0 0 intronic intronic intronic SLC25A15 SLC25A15 ENSG00000102743 Na Na Na Na Na Na Het;T>A 183;12|10 Het;T>A 98;4|7 Hom;T>A 390;0|14 N N - 13 41699582 41699582 G A snp intergenic MIR3168 rs9525453 0.754393 0 0 1 0 0 intergenic intergenic intergenic MIR3168(dist=24346),KBTBD6(dist=2127) WBP4(dist=41443),KBTBD6(dist=2127) ENSG00000244264(dist=3277),ENSG00000165572(dist=2123) Na Na Na Na Na Na Het;G>A 82;4|5 Het;G>A 38;7|4 Hom;G>A 192;0|8 N N - 13 41983178 41983178 T C snp intergenic NAA16 Naa16 ENSG00000172766 N(alpha)-acetyltransferase 16, NatA auxiliary subunit chr13:41885341-41951166 GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0017196;N-terminal peptidyl-methionine acetylation;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;ISS|GO:0005667;transcription factor complex;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031415;NatA complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016407;acetyltransferase activity;ISS|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA16 http://www.informatics.jax.org/searchtool/Search.do?query=NAA16&submit=Quick%0D%13225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA16 rs9532804 0.745407 0 0 1 0 0 intergenic intergenic intergenic NAA16(dist=32012),OR7E37P(dist=33522) NAA16(dist=32012),OR7E37P(dist=33522) ENSG00000214222(dist=23859),ENSG00000205240(dist=22247) Na Na Na Na Na Na Het;T>C 253;17|12 Het;T>C 207;28|12 Hom;T>C 1262;0|45 N N - 13 41986711 41986711 T C snp intergenic NAA16 Naa16 ENSG00000172766 N(alpha)-acetyltransferase 16, NatA auxiliary subunit chr13:41885341-41951166 GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0017196;N-terminal peptidyl-methionine acetylation;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;ISS|GO:0005667;transcription factor complex;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031415;NatA complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016407;acetyltransferase activity;ISS|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA16 http://www.informatics.jax.org/searchtool/Search.do?query=NAA16&submit=Quick%0D%13225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA16 rs4319652 0.669728 0 0 1 0 0 intergenic intergenic intergenic NAA16(dist=35545),OR7E37P(dist=29989) NAA16(dist=35545),OR7E37P(dist=29989) ENSG00000214222(dist=27392),ENSG00000205240(dist=18714) Na Na Na Na Na Na Het;T>C 105;5|6 Het;T>C 177;4|10 Hom;T>C 369;0|15 N N - 13 41986751 41986751 A G snp intergenic NAA16 Naa16 ENSG00000172766 N(alpha)-acetyltransferase 16, NatA auxiliary subunit chr13:41885341-41951166 GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0017196;N-terminal peptidyl-methionine acetylation;IBA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;ISS|GO:0005667;transcription factor complex;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031415;NatA complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016407;acetyltransferase activity;ISS|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA16 http://www.informatics.jax.org/searchtool/Search.do?query=NAA16&submit=Quick%0D%13225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA16 rs4462486 0.669529 0 0 1 0 0 intergenic intergenic intergenic NAA16(dist=35585),OR7E37P(dist=29949) NAA16(dist=35585),OR7E37P(dist=29949) ENSG00000214222(dist=27432),ENSG00000205240(dist=18674) Na Na Na Na Na Na Het;A>G 128;3|6 Het;A>G 135;2|7 Hom;A>G 170;0|8 N N - 13 42644176 42644176 T A snp ncRNA_exonic MAPK6PS3 rs7993632 0.585663 0 0 1 0 0 intronic intronic ncRNA_exonic DGKH DGKH ENSG00000237263 Na Na Na Na Na Na Het;T>A 79;3|4 Ref Hom;T>A 448;0|15 N N - 13 42701739 42701739 A T snp intronic DGKH Dgkh ENSG00000102780 diacylglycerol kinase eta chr13:42614176-42830714 This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014] Monocytes; Body Composition; Alzheimer Disease; Bipolar disorder; Cholesterol; Body Height; Cholesterol, LDL; height; bipolar disorder; Tobacco Use Disorder; Bipolar Disorder; Nephrolithiasis Effects of PIP2 hydrolysis GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IMP|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0051259;protein oligomerization;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DGKH https://www.uniprot.org/uniprot/Q86XP1 https://www.ncbi.nlm.nih.gov/omim/?term=604071 http://www.informatics.jax.org/searchtool/Search.do?query=DGKH&submit=Quick%0D%2908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKH rs670676 0.74381 0.8308 0.7675 1 0 0 intronic intronic intronic DGKH DGKH ENSG00000102780 Na Na Na Na Na Na Het;A>T 480;22|23 Het;A>T 481;16|23 Hom;A>T 1123;0|44 N N - 13 42794004 42794004 G A snp intronic DGKH Dgkh ENSG00000102780 diacylglycerol kinase eta chr13:42614176-42830714 This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014] Monocytes; Body Composition; Alzheimer Disease; Bipolar disorder; Cholesterol; Body Height; Cholesterol, LDL; height; bipolar disorder; Tobacco Use Disorder; Bipolar Disorder; Nephrolithiasis Effects of PIP2 hydrolysis GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IMP|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0051259;protein oligomerization;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DGKH https://www.uniprot.org/uniprot/Q86XP1 https://www.ncbi.nlm.nih.gov/omim/?term=604071 http://www.informatics.jax.org/searchtool/Search.do?query=DGKH&submit=Quick%0D%2908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKH rs347382 0.808307 0 0 1 0 0 intronic intronic intronic DGKH DGKH ENSG00000102780 Na Na Na Na Na Na Het;G>A 560;13|21 Het;G>A 282;22|16 Hom;G>A 1388;0|49 N N - 13 42811536 42811537 GA G indel UTR3 *8249_*8250delinsG DGKH Dgkh ENSG00000102780 diacylglycerol kinase eta chr13:42614176-42830714 This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014] Monocytes; Body Composition; Alzheimer Disease; Bipolar disorder; Cholesterol; Body Height; Cholesterol, LDL; height; bipolar disorder; Tobacco Use Disorder; Bipolar Disorder; Nephrolithiasis Effects of PIP2 hydrolysis GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IMP|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0051259;protein oligomerization;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DGKH https://www.uniprot.org/uniprot/Q86XP1 https://www.ncbi.nlm.nih.gov/omim/?term=604071 http://www.informatics.jax.org/searchtool/Search.do?query=DGKH&submit=Quick%0D%2908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKH rs11348903 0.49381 0 0 1 0 0 UTR3 intergenic UTR3 DGKH(NM_001204504:c.*8249_*8250delinsG,NM_152910:c.*8249_*8250delinsG,NM_178009:c.*8212_*8213delinsG,NM_001204506:c.*8212_*8213delinsG,NM_001204505:c.*8212_*8213delinsG,NM_001297429:c.*8249_*8250delinsG) DGKH(dist=7645),AK054970(dist=1809) ENSG00000102780(ENST00000261491:c.*8249_*8250delinsG) Na Na Na Na Na Na Het;-A 1291;72|63 Het;-A 1282;38|58 Hom;-A 3913;0|109 N N - 13 43639845 43639845 A C snp synonymous SNV A132C G44G aliphatic,neutral aliphatic,neutral DNAJC15 Dnajc15 ENSG00000120675 DnaJ heat shock protein family (Hsp40) member C15 chr13:43597339-43683045 Arteries; Insulin; Psychomotor Performance; Acquired Immunodeficiency Syndrome|Disease Progression; Cognitive performance; Glucose Mice homozygous for a knock-out allele exhibit increased mitochondrial activity that results in rapid metabolism in fasted mice or mice fed a high fat diet. GO:0006810;transport;IEA|GO:0009267;cellular response to starvation;IEA|GO:0015031;protein transport;IEA|GO:0019216;regulation of lipid metabolic process;IEA|GO:0031333;negative regulation of protein complex assembly;IEA|GO:1902957;negative regulation of mitochondrial electron transport, NADH to ubiquinone;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DNAJC15 https://www.uniprot.org/uniprot/Q9Y5T4 https://www.ncbi.nlm.nih.gov/omim/?term=615339 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC15&submit=Quick%0D%5229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC15 rs3783044 0.256589 0.1967 0.2461 1 0 0 exonic exonic exonic DNAJC15 DNAJC15 ENSG00000120675 synonymous SNV synonymous SNV unknown DNAJC15:NM_013238:exon2:c.A132C:p.G44G, DNAJC15:uc001uyy.3:exon2:c.A132C:p.G44G, UNKNOWN Het;A>C 2130;126|101 Het;A>C 2293;145|114 Hom;A>C 5938;4|230 N N - 13 43681427 43681427 G A snp UTR3 *43G>A DNAJC15 Dnajc15 ENSG00000120675 DnaJ heat shock protein family (Hsp40) member C15 chr13:43597339-43683045 Arteries; Insulin; Psychomotor Performance; Acquired Immunodeficiency Syndrome|Disease Progression; Cognitive performance; Glucose Mice homozygous for a knock-out allele exhibit increased mitochondrial activity that results in rapid metabolism in fasted mice or mice fed a high fat diet. GO:0006810;transport;IEA|GO:0009267;cellular response to starvation;IEA|GO:0015031;protein transport;IEA|GO:0019216;regulation of lipid metabolic process;IEA|GO:0031333;negative regulation of protein complex assembly;IEA|GO:1902957;negative regulation of mitochondrial electron transport, NADH to ubiquinone;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DNAJC15 https://www.uniprot.org/uniprot/Q9Y5T4 https://www.ncbi.nlm.nih.gov/omim/?term=615339 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC15&submit=Quick%0D%5229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC15 rs1047775 0.472244 0.4629 0.5199 1 0 0 UTR3 UTR3 UTR3 DNAJC15(NM_013238:c.*43G>A) DNAJC15(uc001uyy.3:c.*43G>A) ENSG00000120675(ENST00000379221:c.*43G>A) Na Na Na Na Na Na Het;G>A 65;2|4 Ref Hom;G>A 46;0|3 N N - 13 44434281 44434285 TAATG T indel intronic CCDC122 Ccdc122 ENSG00000151773 coiled-coil domain containing 122 chr13:44398045-44453827 Leprosy, Multibacillary|Leprosy, Paucibacillary; Body Mass Index; Leprosy http://www.genecards.org/index.php?path=/Search/keyword/CCDC122 https://www.uniprot.org/uniprot/Q5T0U0 https://www.ncbi.nlm.nih.gov/omim/?term=613408 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC122&submit=Quick%0D%9469ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC122 rs142300402 0.447484 0 0 1 0 0 intronic intronic intronic CCDC122 CCDC122 ENSG00000151773 Na Na Na Na Na Na Het;-AATG 182;11|6 Het;-AATG 599;12|16 Hom;-AATG 867;0|21 N N - 13 44457925 44457925 A G snp nonsynonymous SNV A760G I254V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LACC1 Lacc1 ENSG00000179630 laccase domain containing 1 chr13:44453420-44468068 Crohn Disease; Crohn Disease|Crohn's disease; Heart Failure; Leprosy, Multibacillary|Leprosy, Paucibacillary; leprosy; Behcet Syndrome; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Colitis, Ulcerative|Crohn Disease|; Leprosy; kidney aging Mice homozygous for a knock-out allele exhibit decreased fatty acid oxidation and glycolysis in macrophages and increased susceptibility to LPS-induced endotoxin shock. GO:0005777;peroxisome;IDA GO:0005507;copper ion binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LACC1 https://hpo.jax.org/app/browse/search?q=LACC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613409 http://www.informatics.jax.org/searchtool/Search.do?query=LACC1&submit=Quick%0D%14367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LACC1 rs3764147 0.305911 0.2520 0.2702 0.08 1 13 exonic exonic exonic LACC1 LACC1 ENSG00000179630 nonsynonymous SNV nonsynonymous SNV unknown LACC1:NM_153218:exon4:c.A760G:p.I254V,LACC1:NM_001128303:exon4:c.A760G:p.I254V, LACC1:uc010acg.3:exon4:c.A760G:p.I254V,LACC1:uc001uzf.4:exon4:c.A760G:p.I254V, UNKNOWN Het;A>G 633;39|29 Het;A>G 556;55|31 Hom;A>G 2240;0|82 N N - 13 44684584 44684584 G A snp upstream SMIM2-AS1 rs4572285 0.9377 0 0 1 0 0 upstream intergenic ncRNA_intronic SMIM2-AS1 LINC00284(dist=79985),MGC5590(dist=32703) ENSG00000226519 Na Na Na Na Na Na Het;G>A 281;6|11 Het;G>A 197;8|8 Hom;G>A 304;0|10 N N - 13 44716207 44716207 A G snp upstream SMIM2-AS1 rs12857227 0 0 0 1 0 0 ncRNA_intronic intergenic upstream SMIM2-AS1 LINC00284(dist=111608),MGC5590(dist=1080) ENSG00000227258 Na Na Na Na Na Na Het;A>G 88;2|5 Het;A>G 133;1|7 Hom;A>G 71;0|4 N N - 13 44732330 44732330 C A snp ncRNA_exonic SMIM2-IT1 rs3803243 0.899161 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SMIM2-IT1 SMIM2-IT1 ENSG00000235285 Na Na Na Na Na Na Het;C>A 1124;60|52 Het;C>A 611;56|35 Hom;C>A 2788;0|109 N N - 13 46475838 46475838 A G snp intergenic SIAH3 Siah3 ENSG00000215475 siah E3 ubiquitin protein ligase family member 3 chr13:46354405-46425871 Iron; Tobacco Use Disorder GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0031647;regulation of protein stability;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IDA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIAH3 https://www.ncbi.nlm.nih.gov/omim/?term=615609 http://www.informatics.jax.org/searchtool/Search.do?query=SIAH3&submit=Quick%0D%18343ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIAH3 rs2766490 0.661342 0 0 1 0 0 intergenic intergenic intergenic SIAH3(dist=49992),ZC3H13(dist=60476) SIAH3(dist=49992),ZC3H13(dist=53967) ENSG00000215475(dist=49967),ENSG00000123200(dist=52762) Na Na Na Na Na Na Het;A>G 323;24|16 Het;A>G 541;22|24 Hom;A>G 1370;0|51 N N - 13 46656412 46656412 T G snp ncRNA_intronic CPB2-AS1 rs3818477 0.452276 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CPB2-AS1 CPB2-AS1 ENSG00000235903 Na Na Na Na Na Na Het;T>G 39;4|2 Het;T>G 112;2|4 Hom;T>G 136;0|4 N N - 13 47358540 47358540 T C snp intronic ESD Gm2904 ENSG00000139684 esterase D chr13:47345391-47371367 This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009] atherosclerosis, coronary; tuberculosis; drug-related genes ; cirrhosis, alcoholic; Iron; tuberculosis Glutathione conjugation GO:0008150;biological_process;ND|GO:0046294;formaldehyde catabolic process;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IDA|GO:0018738;S-formylglutathione hydrolase activity;TAS|GO:0042802;identical protein binding;IPI|GO:0047374;methylumbelliferyl-acetate deacetylase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ESD https://www.uniprot.org/uniprot/P10768 https://www.ncbi.nlm.nih.gov/omim/?term=133280 http://www.informatics.jax.org/searchtool/Search.do?query=ESD&submit=Quick%0D%7926ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ESD rs8192889 0.378994 0 0 1 0 0 intronic intronic intronic ESD ESD ENSG00000139684 Na Na Na Na Na Na Het;T>C 263;7|9 Het;T>C 366;16|15 Hom;T>C 1412;0|43 N N - 13 48870667 48870667 A AG indel ncRNA_exonic LINC00441 rs72514713 0.916134 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00441 LINC00441 ENSG00000231473 Na Na Na Na Na Na Het;+G 572;36|19 Het;+G 768;18|23 Hom;+G 1401;2|38 N N - 13 48878292 48878292 G A snp intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs2252544 0.511382 0 0 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;G>A 93;7|6 Het;G>A 68;5|4 Hom;G>A 357;0|13 N N - 13 48891836 48891836 G A snp ncRNA_exonic PPP1R26P1 rs3825417 0.528155 0 0 1 0 0 intronic intronic ncRNA_exonic RB1 RB1 ENSG00000238086 Na Na Na Na Na Na Het;G>A 375;16|18 Het;G>A 234;24|13 Hom;G>A 808;0|31 N N - 13 48892092 48892092 C G snp ncRNA_exonic PPP1R26P1 rs2854348 0.714856 0 0 1 0 0 intronic intronic ncRNA_exonic RB1 RB1 ENSG00000238086 Na Na Na Na Na Na Het;C>G 516;32|23 Het;C>G 512;14|24 Hom;C>G 1215;0|44 N N - 13 48892992 48892992 T G snp ncRNA_exonic PPP1R26P1 rs2804094 0.719848 0 0 1 0 0 intronic intronic ncRNA_exonic RB1 RB1 ENSG00000238086 Na Na Na Na Na Na Het;T>G 948;33|41 Het;T>G 721;31|32 Hom;T>G 1963;0|69 N N - 13 48901318 48901318 A AT indel intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs35106396 0.410543 0 0 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;+T 197;6|11 Ref Hom;+T 432;0|19 N N - 13 48919358 48919358 T G snp intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs198617 0.913738 0.9283 0.9607 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;T>G 648;39|31 Het;T>G 745;26|32 Hom;T>G 2302;0|83 N N - 13 48921884 48921884 A G snp intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs198616 0.903355 0.9224 0 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;A>G 186;12|8 Het;A>G 120;5|4 Hom;A>G 288;0|10 N N - 13 48947469 48947469 G T snp intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs185587 0.914337 0 0 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;G>T 297;6|11 Het;G>T 175;8|7 Hom;G>T 672;0|21 N N - 13 49033747 49033747 G A snp intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs198580 0.867212 0 0 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;G>A 260;13|11 Het;G>A 165;11|7 Hom;G>A 579;0|19 N N - 13 49051012 49051012 C T snp intronic RB1 Rb1 ENSG00000139687 RB transcriptional corepressor 1 chr13:48877887-49056122 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] ovarian cancer; esophageal adenocarcinoma; endometrial adenocarcinoma; gliomas; hepatocellular carcinoma; lung cancer ; breast cancer ; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; ovarian cancer ; Triglycerides; lymphoma; osteosarcoma; Tobacco Use Disorder; esophageal cancer; breast cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; colorectal cancer; overall effect; Pancreatic Neoplasms; retinoblastoma is associated; isolated unilateral retinoblastoma; retinoblastoma Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. Cyclin A:Cdk2-associated events at S phase entry GO:0000075;cell cycle checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001558;regulation of cell growth;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IPI|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007093;mitotic cell cycle checkpoint;TAS|GO:0007265;Ras protein signal transduction;IEP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0008150;biological_process;ND|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030182;neuron differentiation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0031134;sister chromatid biorientation;IMP|GO:0031175;neuron projection development;IEA|GO:0034088;maintenance of mitotic sister chromatid cohesion;IMP|GO:0034349;glial cell apoptotic process;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042551;neuron maturation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045445;myoblast differentiation;IMP|GO:0045651;positive regulation of macrophage differentiation;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048565;digestive tract development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051301;cell division;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071922;regulation of cohesin loading;IMP|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IEA|GO:0090230;regulation of centromere complex assembly;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA GO:0000785;chromatin;TAS|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005819;spindle;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016514;SWI/SNF complex;TAS|GO:0016605;PML body;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019900;kinase binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0051219;phosphoprotein binding;IPI|GO:0061676;importin-alpha family protein binding;IPI|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RB1 https://www.uniprot.org/uniprot/P06400 https://hpo.jax.org/app/browse/search?q=RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614041 http://www.informatics.jax.org/searchtool/Search.do?query=RB1&submit=Quick%0D%7927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RB1 rs3020646 0.884984 0.8958 0.9552 1 0 0 intronic intronic intronic RB1 RB1 ENSG00000139687 Na Na Na Na Na Na Het;C>T 814;43|38 Het;C>T 1070;57|50 Hom;C>T 1969;0|74 N N - 13 50415512 50415512 C G snp intergenic KPNA3 Kpna3 ENSG00000102753 karyopherin subunit alpha 3 chr13:50273447-50367057 The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009] Menopause; schizophrenia Mice homozygous for a null mutation are viable and fertile. NS1 Mediated Effects on Host Pathways GO:0006461;protein complex assembly;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0046718;viral entry into host cell;IEA|GO:0075732;viral penetration into host nucleus;IEA|GO:0075733;intracellular transport of virus;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0008139;nuclear localization sequence binding;TAS|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KPNA3 https://www.uniprot.org/uniprot/O00505 https://www.ncbi.nlm.nih.gov/omim/?term=601892 http://www.informatics.jax.org/searchtool/Search.do?query=KPNA3&submit=Quick%0D%2904ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA3 rs9535364 0.717851 0 0 1 0 0 intergenic intergenic intergenic KPNA3(dist=48455),CTAGE10P(dist=49033) KPNA3(dist=48455),CTAGE10P(dist=49033) ENSG00000102753(dist=48455),ENSG00000222148(dist=48258) Na Na Na Na Na Na Het;C>G 226;7|9 Het;C>G 263;15|13 Hom;C>G 553;0|20 N N - 13 51202432 51202432 A G snp intergenic DLEU1 ENSG00000176124 deleted in lymphocytic leukemia 1 (non-protein coding) chr13:50656307-51297372 Body Weight GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DLEU1 https://www.ncbi.nlm.nih.gov/omim/?term=605765 http://www.informatics.jax.org/searchtool/Search.do?query=DLEU1&submit=Quick%0D%13803ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLEU1 rs7333895 0.492612 0 0 1 0 0 intergenic intergenic intergenic DLEU1(dist=99653),DLEU7(dist=84327) NONE(dist=NONE),DLEU7(dist=84327) NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;A>G 895;62|46 Het;A>G 1097;38|54 Hom;A>G 2587;0|101 N N - 13 51202515 51202515 A T snp intergenic DLEU1 ENSG00000176124 deleted in lymphocytic leukemia 1 (non-protein coding) chr13:50656307-51297372 Body Weight GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DLEU1 https://www.ncbi.nlm.nih.gov/omim/?term=605765 http://www.informatics.jax.org/searchtool/Search.do?query=DLEU1&submit=Quick%0D%13803ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLEU1 rs7338717 0.532548 0 0 1 0 0 intergenic intergenic intergenic DLEU1(dist=99736),DLEU7(dist=84244) NONE(dist=NONE),DLEU7(dist=84244) NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;A>T 320;33|16 Het;A>T 358;16|19 Hom;A>T 1062;0|41 N N - 13 51833718 51833718 G A snp intronic FAM124A Fam124a ENSG00000150510 family with sequence similarity 124 member A chr13:51796503-51858377 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM124A https://www.uniprot.org/uniprot/Q86V42 http://www.informatics.jax.org/searchtool/Search.do?query=FAM124A&submit=Quick%0D%9323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM124A rs2182539 0.223642 0 0 1 0 0 intronic intronic intronic FAM124A FAM124A ENSG00000150510 Na Na Na Na Na Na Het;G>A 56;1|4 Ref Hom;G>A 120;0|6 N N - 13 52797537 52797537 C T snp ncRNA_intronic DKFZp434F1622 rs11148246 0.454673 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic MRPS31P5(dist=28935),LOC103191607(dist=110893) DKFZp434F1622,MRPS31P5 ENSG00000217576,ENSG00000272281 Na Na Na Na Na Na Het;C>T 554;16|22 Het;C>T 314;9|12 Hom;C>T 684;0|23 N N - 13 52952928 52952929 CA C indel intronic THSD1 Thsd1 ENSG00000136114 thrombospondin type 1 domain containing 1 chr13:52951305-52980629 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009] familial premature myocardial infarction. O-glycosylation of TSR domain-containing proteins GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/THSD1 https://www.uniprot.org/uniprot/Q9NS62 https://www.ncbi.nlm.nih.gov/omim/?term=616821 http://www.informatics.jax.org/searchtool/Search.do?query=THSD1&submit=Quick%0D%7288ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD1 rs113543720 0.544728 0 0.6406 1 0 0 intronic intronic intronic THSD1 THSD1 ENSG00000136114 Na Na Na Na Na Na Het;-A 603;45|33 Het;-A 557;22|28 Hom;-A 1366;2|55 N N - 13 52971893 52971893 G A snp synonymous SNV C495T I165I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral THSD1 Thsd1 ENSG00000136114 thrombospondin type 1 domain containing 1 chr13:52951305-52980629 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009] familial premature myocardial infarction. O-glycosylation of TSR domain-containing proteins GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/THSD1 https://www.uniprot.org/uniprot/Q9NS62 https://www.ncbi.nlm.nih.gov/omim/?term=616821 http://www.informatics.jax.org/searchtool/Search.do?query=THSD1&submit=Quick%0D%7288ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD1 rs3803264 0.58766 0.6017 0.6380 1 0 0 exonic exonic exonic THSD1 THSD1 ENSG00000136114 synonymous SNV synonymous SNV unknown THSD1:NM_199263:exon3:c.C495T:p.I165I,THSD1:NM_018676:exon3:c.C495T:p.I165I, THSD1:uc001vgp.3:exon3:c.C495T:p.I165I,THSD1:uc001vgo.3:exon3:c.C495T:p.I165I, UNKNOWN Het;G>A 1997;74|82 Het;G>A 1826;86|77 Hom;G>A 3955;0|139 N N - 13 52989863 52989863 C T snp UTR3 *102G>A VPS36 Vps36 ENSG00000136100 vacuolar protein sorting 36 homolog chr13:52986737-53024763 This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0043328;protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IBA GO:0000814;ESCRT II complex;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IDA|GO:0005770;late endosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0043130;ubiquitin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/VPS36 https://www.uniprot.org/uniprot/Q86VN1 https://www.ncbi.nlm.nih.gov/omim/?term=610903 http://www.informatics.jax.org/searchtool/Search.do?query=VPS36&submit=Quick%0D%7283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS36 rs1056335 0.568091 0 0 1 0 0 UTR3 UTR3 UTR3 VPS36(NM_016075:c.*102G>A,NM_001282168:c.*102G>A,NM_001282169:c.*102G>A) VPS36(uc001vgq.3:c.*102G>A,uc001vgs.3:c.*102G>A) ENSG00000136100(ENST00000378060:c.*102G>A) Na Na Na Na Na Na Het;C>T 37;4|2 Het;C>T 82;2|3 Hom;C>T 178;0|5 N N - 13 53009048 53009048 C T snp intronic VPS36 Vps36 ENSG00000136100 vacuolar protein sorting 36 homolog chr13:52986737-53024763 This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0043328;protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IBA GO:0000814;ESCRT II complex;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IDA|GO:0005770;late endosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0043130;ubiquitin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/VPS36 https://www.uniprot.org/uniprot/Q86VN1 https://www.ncbi.nlm.nih.gov/omim/?term=610903 http://www.informatics.jax.org/searchtool/Search.do?query=VPS36&submit=Quick%0D%7283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS36 rs11148252 0.458267 0.4513 0.5388 1 0 0 intronic intronic intronic VPS36 VPS36 ENSG00000136100 Na Na Na Na Na Na Het;C>T 662;34|30 Het;C>T 870;33|41 Hom;C>T 1431;0|55 N N - 13 53030565 53030565 G A snp intronic CKAP2 Ckap2 ENSG00000136108 cytoskeleton associated protein 2 chr13:53029564-53050763 This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013] GO:0000281;mitotic cytokinesis;IGI|GO:0006915;apoptotic process;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007049;cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA http://www.genecards.org/index.php?path=/Search/keyword/CKAP2 https://www.uniprot.org/uniprot/Q8WWK9 https://www.ncbi.nlm.nih.gov/omim/?term=611569 http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2&submit=Quick%0D%7285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2 rs9536079 0.402157 0 0 1 0 0 intronic intronic intronic CKAP2 CKAP2 ENSG00000136108 Na Na Na Na Na Na Het;G>A 405;8|13 Het;G>A 66;5|4 Hom;G>A 410;0|13 N N - 13 53036398 53036398 A G snp intronic CKAP2 Ckap2 ENSG00000136108 cytoskeleton associated protein 2 chr13:53029564-53050763 This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013] GO:0000281;mitotic cytokinesis;IGI|GO:0006915;apoptotic process;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007049;cell cycle;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA http://www.genecards.org/index.php?path=/Search/keyword/CKAP2 https://www.uniprot.org/uniprot/Q8WWK9 https://www.ncbi.nlm.nih.gov/omim/?term=611569 http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2&submit=Quick%0D%7285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2 rs3803262 0.537939 0 0 1 0 0 intronic intronic intronic CKAP2 CKAP2 ENSG00000136108 Na Na Na Na Na Na Het;A>G 241;3|8 Het;A>G 204;3|7 Hom;A>G 481;0|13 N N - 13 53073583 53073583 G C snp ncRNA_intronic TPTE2P3 rs11148258 0.302316 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic TPTE2P3 TPTE2P3 ENSG00000198384 Na Na Na Na Na Na Het;G>C 568;8|17 Het;G>C 263;5|8 Hom;G>C 663;0|21 N N - 13 53095121 53095121 G T snp ncRNA_intronic TPTE2P3 rs148886012 0.30651 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic TPTE2P3 TPTE2P3 ENSG00000198384 Na Na Na Na Na Na Het;G>T 571;41|25 Het;G>T 616;29|25 Hom;G>T 1536;0|51 N N - 13 53095283 53095283 G C snp ncRNA_intronic TPTE2P3 rs2760806 0.309505 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic TPTE2P3 TPTE2P3 ENSG00000198384 Na Na Na Na Na Na Het;G>C 1087;85|47 Het;G>C 1078;81|48 Hom;G>C 3180;0|115 N N - 13 53158873 53158873 A G snp ncRNA_intronic TPTE2P3 rs9536160 0.273363 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic TPTE2P3 TPTE2P3 ENSG00000198384 Na Na Na Na Na Na Het;A>G 488;11|22 Het;A>G 192;11|10 Hom;A>G 986;0|36 N N - 13 53161090 53161090 T C snp ncRNA_exonic TPTE2P3 rs9526946 0.28135 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic TPTE2P3 TPTE2P3 ENSG00000198384 Na Na Na Na Na Na Het;T>C 764;46|36 Het;T>C 851;53|43 Hom;T>C 2179;0|78 N N - 13 53167513 53167513 C T snp intergenic TPTE2P3 rs4301905 0.282348 0 0 1 0 0 intergenic intergenic intergenic TPTE2P3(dist=6288),HNRNPA1L2(dist=24092) TPTE2P3(dist=6288),HNRNPA1L2(dist=24092) ENSG00000198384(dist=6291),ENSG00000139675(dist=24092) Na Na Na Na Na Na Het;C>T 231;9|10 Het;C>T 229;19|11 Hom;C>T 697;0|26 N N - 13 53171317 53171317 C T snp intergenic TPTE2P3 rs4885325 0.282348 0 0 1 0 0 intergenic intergenic intergenic TPTE2P3(dist=10092),HNRNPA1L2(dist=20288) TPTE2P3(dist=10092),HNRNPA1L2(dist=20288) ENSG00000198384(dist=10095),ENSG00000139675(dist=20288) Na Na Na Na Na Na Het;C>T 147;11|8 Ref Hom;C>T 299;0|12 N N - 13 53187292 53187292 G A snp intergenic TPTE2P3 rs77264716 0.211661 0 0 1 0 0 intergenic intergenic intergenic TPTE2P3(dist=26067),HNRNPA1L2(dist=4313) TPTE2P3(dist=26067),HNRNPA1L2(dist=4313) ENSG00000198384(dist=26070),ENSG00000139675(dist=4313) Na Na Na Na Na Na Het;G>A 150;5|5 Ref Hom;G>A 122;0|4 N N - 13 53195886 53195887 CA C indel ncRNA_intronic MRPS31P4 rs398077276 0.179912 0 0 1 0 0 intronic intronic ncRNA_intronic HNRNPA1L2 HNRNPA1L2 ENSG00000250299 Na Na Na Na Na Na Het;-A 1283;70|53 Het;-A 1411;61|56 Hom;-A 3572;0|112 N N - 13 53217035 53217035 C A snp synonymous SNV C408A I136I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HNRNPA1L2 Gm5803 ENSG00000139675 heterogeneous nuclear ribonucleoprotein A1-like 2 chr13:53191605-53217919 GO:0006397;mRNA processing;IEA|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0051028;mRNA transport;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IEA|GO:0019013;viral nucleocapsid;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPA1L2 https://www.uniprot.org/uniprot/Q32P51 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPA1L2&submit=Quick%0D%7924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPA1L2 rs9536211 0.270767 0.2719 0.3614 1 0 0 exonic exonic exonic HNRNPA1L2 HNRNPA1L2 ENSG00000139675 synonymous SNV synonymous SNV unknown HNRNPA1L2:NM_001011724:exon7:c.C408A:p.I136I,HNRNPA1L2:NM_001011725:exon6:c.C408A:p.I136I, HNRNPA1L2:uc001vgz.1:exon5:c.C408A:p.I136I,HNRNPA1L2:uc001vgy.1:exon6:c.C408A:p.I136I,HNRNPA1L2:uc001vgx.1:exon7:c.C408A:p.I136I,HNRNPA1L2:uc021rjy.1:exon1:c.C408A:p.I136I, UNKNOWN Het;C>A 1561;68|70 Het;C>A 1186;48|59 Hom;C>A 3073;2|119 N N - 13 53217270 53217270 A G snp nonsynonymous SNV A643G N215D polar,hydrophilic,neutral polar,hydrophilic,charged(-) HNRNPA1L2 Gm5803 ENSG00000139675 heterogeneous nuclear ribonucleoprotein A1-like 2 chr13:53191605-53217919 GO:0006397;mRNA processing;IEA|GO:0006810;transport;IEA|GO:0008380;RNA splicing;IEA|GO:0051028;mRNA transport;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IEA|GO:0019013;viral nucleocapsid;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPA1L2 https://www.uniprot.org/uniprot/Q32P51 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPA1L2&submit=Quick%0D%7924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPA1L2 rs9536212 0.271166 0.3112 0.3603 0.33 4 12 exonic exonic exonic HNRNPA1L2 HNRNPA1L2 ENSG00000139675 nonsynonymous SNV nonsynonymous SNV unknown HNRNPA1L2:NM_001011724:exon7:c.A643G:p.N215D,HNRNPA1L2:NM_001011725:exon6:c.A643G:p.N215D, HNRNPA1L2:uc001vgz.1:exon5:c.A643G:p.N215D,HNRNPA1L2:uc001vgy.1:exon6:c.A643G:p.N215D,HNRNPA1L2:uc001vgx.1:exon7:c.A643G:p.N215D,HNRNPA1L2:uc021rjy.1:exon1:c.A643G:p.N215D, UNKNOWN Het;A>G 823;41|38 Het;A>G 442;21|18 Hom;A>G 1250;2|47 N N - 13 53227301 53227301 C T snp intronic SUGT1 Sugt1 ENSG00000165416 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone chr13:53226844-53275044 This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016] Homozygous null embryos die prior to E8.5. The NLRP3 inflammasome GO:0000278;mitotic cell cycle;TAS|GO:0031647;regulation of protein stability;IDA|GO:0043947;positive regulation by host of symbiont catalytic activity;IDA GO:0000151;ubiquitin ligase complex;TAS|GO:0000776;kinetochore;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUGT1 https://www.ncbi.nlm.nih.gov/omim/?term=604098 http://www.informatics.jax.org/searchtool/Search.do?query=SUGT1&submit=Quick%0D%11534ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUGT1 rs9536219 0.282348 0.3344 0 1 0 0 intronic intronic intronic SUGT1 SUGT1 ENSG00000165416 Na Na Na Na Na Na Het;C>T 648;28|23 Het;C>T 461;22|17 Hom;C>T 1190;0|38 N N - 13 53278067 53278067 T C snp intronic LECT1 Lect1 rs3742297 0.273562 0 0 1 0 0 intronic intronic intronic LECT1 LECT1 ENSG00000136110 Na Na Na Na Na Na Het;T>C 47;4|3 Ref Hom;T>C 107;0|4 N N - 13 53287023 53287023 G C snp intronic LECT1 Lect1 rs2147692 0.262979 0.3235 0.3606 1 0 0 intronic intronic intronic LECT1 LECT1 ENSG00000136110 Na Na Na Na Na Na Het;G>C 174;15|9 Het;G>C 868;18|35 Hom;G>C 866;0|28 N N - 13 55036098 55036098 A G snp intergenic MIR1297 rs74988278 0.245807 0 0 1 0 0 intergenic intergenic intergenic MIR1297(dist=149915),MIR5007(dist=712491) MIR1297(dist=149915),MIR5007(dist=712491) ENSG00000136149(dist=20648),ENSG00000266699(dist=343904) Na Na Na Na Na Na Het;A>G 155;8|5 Het;A>G 343;27|12 Hom;A>G 1293;0|30 N N - 13 55036104 55036104 G A snp intergenic MIR1297 rs11148305 0.90655 0 0 1 0 0 intergenic intergenic intergenic MIR1297(dist=149921),MIR5007(dist=712485) MIR1297(dist=149921),MIR5007(dist=712485) ENSG00000136149(dist=20654),ENSG00000266699(dist=343898) Na Na Na Na Na Na Het;G>A 157;8|5 Het;G>A 360;22|12 Hom;G>A 1179;0|27 N N - 13 57798674 57798674 T C snp intergenic PRR20C ENSG00000229665 proline rich 20C chr13:57728195-57731216 This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRR20C http://www.informatics.jax.org/searchtool/Search.do?query=PRR20C&submit=Quick%0D%18925ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR20C rs550356 0.853834 0 0 1 0 0 intergenic intergenic intergenic PRR20C(dist=54322),PCDH17(dist=407115) PRR20E(dist=54322),PCDH17(dist=407115) ENSG00000230009(dist=19741),ENSG00000234421(dist=90199) Na Na Na Na Na Na Het;T>C 293;18|15 Het;T>C 31;7|2 Hom;T>C 1065;0|40 N N - 13 59104084 59104084 G C snp ncRNA_exonic CTAGE16P rs9538095 0.291933 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101926897(dist=320467),DIAPH3(dist=1135637) TRNA_Pseudo(dist=645463),DIAPH3(dist=1135637) ENSG00000214335 Na Na Na Na Na Na Het;G>C 688;31|26 Het;G>C 760;14|32 Hom;G>C 1222;0|44 N N - 13 59200076 59200076 G A snp intergenic LOC101926897 rs9317005 0.398962 0 0 1 0 0 intergenic intergenic intergenic LOC101926897(dist=416459),DIAPH3(dist=1039645) TRNA_Pseudo(dist=741455),DIAPH3(dist=1039645) ENSG00000214335(dist=94916),ENSG00000223717(dist=125105) Na Na Na Na Na Na Het;G>A 34;4|3 Ref Hom;G>A 71;0|4 N N - 13 61268083 61268083 T C snp ncRNA_exonic LINC00378 rs9563831 0.535343 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00378 DD413682(dist=56965),Y_RNA(dist=95611) ENSG00000225249 Na Na Na Na Na Na Het;T>C 435;54|24 Het;T>C 1670;79|79 Hom;T>C 3550;0|135 N N - 13 61268187 61268187 A G snp ncRNA_exonic LINC00378 rs9563832 0.553115 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00378 DD413682(dist=57069),Y_RNA(dist=95507) ENSG00000225249 Na Na Na Na Na Na Het;A>G 1104;40|30 Het;A>G 1377;73|61 Hom;A>G 3821;0|105 N N - 13 62001641 62001641 T G snp UTR5 -12350A>C AL592490.1 rs9539159 0.445887 0 0 1 0 0 intergenic UTR5 UTR5 PCDH20(dist=11986),LINC00358(dist=576017) PCDH20(uc010thj.2:c.-12350A>C) ENSG00000197991(ENST00000409186:c.-12350A>C) Na Na Na Na Na Na Het;T>G 616;33|27 Het;T>G 492;31|21 Hom;T>G 1802;0|56 N N - 13 63806070 63806070 C G snp ncRNA_intronic LINC00376 rs9570792 0.301917 0 0 1 0 0 ncRNA_intronic intergenic intergenic LINC00376 PCDH20(dist=1803991),OR7E156P(dist=505498) ENSG00000227564(dist=4881),ENSG00000231061(dist=435744) Na Na Na Na Na Na Het;C>G 386;10|14 Het;C>G 150;14|8 Hom;C>G 802;0|30 N N - 13 63838504 63838504 T C snp ncRNA_intronic LINC00376 rs184179 0.802316 0 0 1 0 0 ncRNA_intronic intergenic intergenic LINC00376 PCDH20(dist=1836425),OR7E156P(dist=473064) ENSG00000227564(dist=37315),ENSG00000231061(dist=403310) Na Na Na Na Na Na Het;T>C 299;12|13 Het;T>C 519;15|24 Hom;T>C 882;0|32 N N - 13 63838554 63838554 A G snp ncRNA_intronic LINC00376 rs298826 0.806709 0 0 1 0 0 ncRNA_intronic intergenic intergenic LINC00376 PCDH20(dist=1836475),OR7E156P(dist=473014) ENSG00000227564(dist=37365),ENSG00000231061(dist=403260) Na Na Na Na Na Na Het;A>G 142;8|6 Het;A>G 229;2|9 Hom;A>G 285;0|11 N N - 13 63901217 63901217 A C snp ncRNA_intronic LINC00376 rs3012174 0.741014 0 0 1 0 0 ncRNA_intronic intergenic intergenic LINC00376 PCDH20(dist=1899138),OR7E156P(dist=410351) ENSG00000227564(dist=100028),ENSG00000231061(dist=340597) Na Na Na Na Na Na Het;A>C 56;3|3 Het;A>C 82;2|3 Hom;A>C 256;0|7 N N - 13 63901254 63901254 A G snp ncRNA_intronic LINC00376 rs3012175 0.823482 0 0 1 0 0 ncRNA_intronic intergenic intergenic LINC00376 PCDH20(dist=1899175),OR7E156P(dist=410314) ENSG00000227564(dist=100065),ENSG00000231061(dist=340560) Na Na Na Na Na Na Het;A>G 170;5|6 Het;A>G 205;10|7 Hom;A>G 436;0|11 N N - 13 64002218 64002218 T C snp intergenic LINC00376 rs576946 0.776957 0 0 1 0 0 intergenic intergenic intergenic LINC00376(dist=99991),LINC00395(dist=239597) PCDH20(dist=2000139),OR7E156P(dist=309350) ENSG00000227564(dist=201029),ENSG00000231061(dist=239596) Na Na Na Na Na Na Het;T>C 1068;60|53 Het;T>C 824;51|41 Hom;T>C 4460;0|162 N N - 13 65149778 65149778 G GT indel intergenic LOC102723968 rs200083497 0.212061 0 0 1 0 0 intergenic intergenic intergenic LOC102723968(dist=731520),MIR548X2(dist=1390684) AK057471(dist=499634),PCDH9(dist=1727188) ENSG00000227674(dist=499634),ENSG00000214269(dist=382451) Na Na Na Na Na Na Het;+T 43;7|5 Ref Hom;+T 105;0|6 N N - 13 65150012 65150012 A C snp intergenic LOC102723968 rs9528790 0.284545 0 0 1 0 0 intergenic intergenic intergenic LOC102723968(dist=731754),MIR548X2(dist=1390450) AK057471(dist=499868),PCDH9(dist=1726954) ENSG00000227674(dist=499868),ENSG00000214269(dist=382217) Na Na Na Na Na Na Het;A>C 596;18|26 Het;A>C 315;16|17 Hom;A>C 783;0|29 N N - 13 66452270 66452270 C A snp ncRNA_exonic LINC01052 rs9528985 0.346246 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),MIR548X2(dist=88192) AK057471(dist=1802126),PCDH9(dist=424696) ENSG00000234767 Na Na Na Na Na Na Het;C>A 2561;134|120 Het;C>A 2274;104|109 Hom;C>A 6259;4|236 N N - 13 69459232 69459232 T C snp ncRNA_intronic LINC00550 rs9317740 0.516573 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic LINC00550 LINC00550 ENSG00000243671(dist=191019),ENSG00000232380(dist=99958) Na Na Na Na Na Na Het;T>C 532;24|21 Het;T>C 276;13|9 Hom;T>C 984;0|34 N N - 13 69459437 69459437 G C snp ncRNA_exonic LINC00550 rs2438445 0.782947 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LINC00550 LINC00550 ENSG00000243671(dist=191224),ENSG00000232380(dist=99753) Na Na Na Na Na Na Het;G>C 1383;85|64 Het;G>C 998;58|48 Hom;G>C 3531;0|126 N N - 13 69459449 69459449 G A snp ncRNA_exonic LINC00550 rs2438444 0.782947 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LINC00550 LINC00550 ENSG00000243671(dist=191236),ENSG00000232380(dist=99741) Na Na Na Na Na Na Het;G>A 853;77|49 Het;G>A 800;47|41 Hom;G>A 2888;0|116 N N - 13 69459562 69459562 A G snp upstream LINC00550 rs2492537 0.782548 0 0 1 0 0 upstream upstream intergenic LINC00550 LINC00550 ENSG00000243671(dist=191349),ENSG00000232380(dist=99628) Na Na Na Na Na Na Het;A>G 238;18|9 Ref Hom;A>G 546;0|14 N N - 13 69459586 69459586 C T snp upstream LINC00550 rs2492538 0.781949 0 0 1 0 0 upstream upstream intergenic LINC00550 LINC00550 ENSG00000243671(dist=191373),ENSG00000232380(dist=99604) Na Na Na Na Na Na Het;C>T 220;13|9 Ref Hom;C>T 196;0|6 N N - 13 69549052 69549052 G A snp intergenic LINC00550 rs952196 0.690495 0 0 1 0 0 intergenic intergenic intergenic LINC00550(dist=89595),LINC00383(dist=247426) LINC00550(dist=89595),KLHL1(dist=725673) ENSG00000243671(dist=280839),ENSG00000232380(dist=10138) Na Na Na Na Na Na Het;G>A 50;3|4 Ref Hom;G>A 170;0|8 N N - 13 69560790 69560790 C T snp downstream ZDHHC20P4 rs9599374 0.327676 0 0 1 0 0 intergenic intergenic downstream LINC00550(dist=101333),LINC00383(dist=235688) LINC00550(dist=101333),KLHL1(dist=713935) ENSG00000232380 Na Na Na Na Na Na Het;C>T 31;2|2 Ref Hom;C>T 95;0|3 N N - 13 69849352 69849352 T C snp ncRNA_exonic LINC00383 rs2121288 0.424121 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00383 LINC00550(dist=389895),KLHL1(dist=425373) ENSG00000237534 Na Na Na Na Na Na Het;T>C 1106;93|57 Het;T>C 1061;73|58 Hom;T>C 2817;0|103 N N - 13 69849436 69849436 A G snp ncRNA_intronic LINC00383 rs7988874 0.206669 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC00383 LINC00550(dist=389979),KLHL1(dist=425289) ENSG00000237534 Na Na Na Na Na Na Het;A>G 969;40|37 Het;A>G 576;31|27 Hom;A>G 1196;0|39 N N - 13 71163850 71163851 AT A indel intergenic ATXN8OS rs11286786 0.988019 0 0 1 0 0 intergenic intergenic intergenic ATXN8OS(dist=449965),LINC00348(dist=425422) ATXN8OS(dist=449965),Y_RNA(dist=112012) ENSG00000202433(dist=130148),ENSG00000226554(dist=333945) Na Na Na Na Na Na Het;-T 1526;13|85 Ref Hom;-T 2129;12|113 N N - 13 73700048 73700049 GA G indel intergenic KLF5 Klf5 ENSG00000102554 Kruppel like factor 5 chr13:73629114-73651676 This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Alzheimer's disease ; Type 2 diabetes; plasma HDL cholesterol (HDL-C) levels; pancreatic cancer; diabetes, type 2; E-Selectin; Schizophrenia; hypertension Homozygous null mice die during gestation, while heterozygotes exhibit abnormal cardiovascular remodeling after external stress. Mice homozygous for a floxed allele activated in the prostate exhibit increased cell proliferation and hyperplasia in the prostate without neoplasia. Transcriptional regulation of white adipocyte differentiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030033;microvillus assembly;IEA|GO:0032534;regulation of microvillus assembly;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0060576;intestinal epithelial cell development;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:1901653;cellular response to peptide;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLF5 https://www.uniprot.org/uniprot/Q13887 https://www.ncbi.nlm.nih.gov/omim/?term=602903 http://www.informatics.jax.org/searchtool/Search.do?query=KLF5&submit=Quick%0D%2892ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF5 rs10712272 0.651757 0 0 1 0 0 intergenic intergenic intergenic KLF5(dist=48368),LINC00392(dist=438332) KLF5(dist=48372),KLF12(dist=560100) ENSG00000265959(dist=1101),ENSG00000201253(dist=65616) Na Na Na Na Na Na Het;-A 487;25|24 Het;-A 518;23|25 Hom;-A 1275;0|47 N N - 13 74049848 74049848 C T snp ncRNA_intronic LINC00393 rs10507817 0.0908546 0 0 1 0 0 intergenic intergenic ncRNA_intronic KLF5(dist=398168),LINC00392(dist=88533) KLF5(dist=398172),KLF12(dist=210301) ENSG00000224853 Na Na Na Na Na Na Het;C>T 323;6|10 Ref Hom;C>T 131;0|4 N N - 13 74050153 74050153 G A snp ncRNA_intronic LINC00393 rs7986048 0.379193 0 0 1 0 0 intergenic intergenic ncRNA_intronic KLF5(dist=398473),LINC00392(dist=88228) KLF5(dist=398477),KLF12(dist=209996) ENSG00000224853 Na Na Na Na Na Na Het;G>A 428;19|17 Ref Hom;G>A 1257;0|39 N N - 13 76557184 76557189 TTTTTA T indel intergenic LMO7DN rs148463005 0.426118 0 0 1 0 0 intergenic intergenic intergenic LMO7DN(dist=99236),KCTD12(dist=897115) C13orf45(dist=99236),KCTD12(dist=897115) ENSG00000261206(dist=47916),ENSG00000224933(dist=29970) Na Na Na Na Na Na Het;-TTTTA 1354;45|39 Ref Hom;-TTTTA 3765;0|88 N N - 13 76707220 76707220 A G snp intergenic LMO7DN rs7335526 0.599042 0 0 1 0 0 intergenic intergenic intergenic LMO7DN(dist=249272),KCTD12(dist=747084) C13orf45(dist=249272),KCTD12(dist=747084) ENSG00000224933(dist=118583),ENSG00000243274(dist=1847) Na Na Na Na Na Na Het;A>G 75;8|5 Ref Hom;A>G 628;0|23 N N - 13 77409280 77409288 CAGACAGAT C indel intergenic LMO7DN rs139983767 0 0 0 1 0 0 intergenic intergenic intergenic LMO7DN(dist=951332),KCTD12(dist=45016) C13orf45(dist=951332),KCTD12(dist=45016) ENSG00000243274(dist=699920),ENSG00000178695(dist=45024) Na Na Na Na Na Na Het;-AGACAGAT 164;17|6 Ref Hom;-AGACAGAT 323;0|8 N N - 13 78211386 78211388 CAT C indel intronic SCEL Scel ENSG00000136155 sciellin chr13:78109809-78219398 The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] Body Weights and Measures; Blood Flow Velocity Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. GO:0008544;epidermis development;ISS|GO:0009790;embryo development;ISS|GO:0030216;keratinocyte differentiation;IDA GO:0001533;cornified envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCEL https://www.uniprot.org/uniprot/O95171 https://www.ncbi.nlm.nih.gov/omim/?term=604112 http://www.informatics.jax.org/searchtool/Search.do?query=SCEL&submit=Quick%0D%7297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCEL rs781548876 0 0 0 1 0 0 intronic intronic intronic SCEL SCEL ENSG00000136155 Na Na Na Na Na Na Het;-AT 436;17|13 Ref Hom;-AT 999;0|23 N N - 13 78211402 78211402 T C snp intronic SCEL Scel ENSG00000136155 sciellin chr13:78109809-78219398 The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] Body Weights and Measures; Blood Flow Velocity Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. GO:0008544;epidermis development;ISS|GO:0009790;embryo development;ISS|GO:0030216;keratinocyte differentiation;IDA GO:0001533;cornified envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCEL https://www.uniprot.org/uniprot/O95171 https://www.ncbi.nlm.nih.gov/omim/?term=604112 http://www.informatics.jax.org/searchtool/Search.do?query=SCEL&submit=Quick%0D%7297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCEL rs2016417 0.544928 0 0 1 0 0 intronic intronic intronic SCEL SCEL ENSG00000136155 Na Na Na Na Na Na Het;T>C 517;9|15 Ref Hom;T>C 1032;0|24 N N - 13 78216873 78216873 A G snp synonymous SNV A1854G L618L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SCEL Scel ENSG00000136155 sciellin chr13:78109809-78219398 The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] Body Weights and Measures; Blood Flow Velocity Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. GO:0008544;epidermis development;ISS|GO:0009790;embryo development;ISS|GO:0030216;keratinocyte differentiation;IDA GO:0001533;cornified envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCEL https://www.uniprot.org/uniprot/O95171 https://www.ncbi.nlm.nih.gov/omim/?term=604112 http://www.informatics.jax.org/searchtool/Search.do?query=SCEL&submit=Quick%0D%7297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCEL rs1053985 0.41234 0.5152 0.5294 1 0 0 exonic exonic exonic SCEL SCEL ENSG00000136155 synonymous SNV synonymous SNV unknown SCEL:NM_001160706:exon30:c.A1854G:p.L618L,SCEL:NM_003843:exon31:c.A1920G:p.L640L,SCEL:NM_144777:exon32:c.A1980G:p.L660L, SCEL:uc010thx.2:exon30:c.A1854G:p.L618L,SCEL:uc001vki.3:exon32:c.A1980G:p.L660L,SCEL:uc001vkj.3:exon31:c.A1920G:p.L640L, UNKNOWN Het;A>G 1401;62|61 Ref Hom;A>G 6016;0|220 N N - 13 79740796 79740796 T C snp ncRNA_exonic BCAS2P3 rs1411315 0.847244 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00331(dist=326611),RBM26(dist=152207) HH834010(dist=298523),HH834010(dist=104471) ENSG00000226670 Na Na Na Na Na Na Het;T>C 51;7|4 Ref Hom;T>C 353;0|11 N N - 13 80446881 80446881 A G snp ncRNA_intronic BC036310 rs9545246 0.282149 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00382 BC036310 ENSG00000229175 Na Na Na Na Na Na Het;A>G 305;10|11 Ref Hom;A>G 462;0|17 N N - 13 83150725 83150725 C T snp intergenic LINC00564 rs9575142 0.581869 0 0 1 0 0 intergenic intergenic intergenic LINC00564(dist=1349607),SLITRK1(dist=1300615) NONE(dist=NONE),SLITRK1(dist=1300618) ENSG00000214182(dist=885518),ENSG00000237099(dist=246541) Na Na Na Na Na Na Het;C>T 113;5|6 Ref Hom;C>T 604;0|24 N N - 13 85594249 85594249 C T snp intergenic LINC00333 rs1392690 0.390775 0 0 1 0 0 intergenic intergenic intergenic LINC00333(dist=413346),LINC00375(dist=44973) LINC00333(dist=413346),LINC00351(dist=343489) ENSG00000233349(dist=456878),ENSG00000226370(dist=44973) Na Na Na Na Na Na Het;C>T 48;1|3 Ref Hom;C>T 120;0|6 N N - 13 88038982 88038982 A T snp intergenic SLITRK6 Slitrk6 ENSG00000184564 SLIT and NTRK like family member 6 chr13:86366925-86373623 This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014] DEAFNESS AND MYOPIA Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia. Receptor-type tyrosine-protein phosphatases GO:0001964;startle response;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0002093;auditory receptor cell morphogenesis;IEA|GO:0007409;axonogenesis;IEA|GO:0007416;synapse assembly;IMP|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0021562;vestibulocochlear nerve development;IEA|GO:0031223;auditory behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050896;response to stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060005;vestibular reflex;IEA|GO:0060007;linear vestibuloocular reflex;IEA|GO:0060384;innervation;IEA|GO:0090102;cochlea development;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071944;cell periphery;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLITRK6 https://hpo.jax.org/app/browse/search?q=SLITRK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609681 http://www.informatics.jax.org/searchtool/Search.do?query=SLITRK6&submit=Quick%0D%15234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLITRK6 rs7991268 0.447284 0 0 1 0 0 intergenic intergenic intergenic SLITRK6(dist=1665499),MIR4500HG(dist=57260) SLITRK6(dist=1665499),MIR4500HG(dist=57260) ENSG00000228473(dist=6469),ENSG00000232636(dist=40473) Na Na Na Na Na Na Het;A>T 407;9|11 Ref Hom;A>T 287;0|7 N N - 13 88038983 88038983 A C snp intergenic SLITRK6 Slitrk6 ENSG00000184564 SLIT and NTRK like family member 6 chr13:86366925-86373623 This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014] DEAFNESS AND MYOPIA Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia. Receptor-type tyrosine-protein phosphatases GO:0001964;startle response;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0002093;auditory receptor cell morphogenesis;IEA|GO:0007409;axonogenesis;IEA|GO:0007416;synapse assembly;IMP|GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0021562;vestibulocochlear nerve development;IEA|GO:0031223;auditory behavior;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050896;response to stimulus;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060005;vestibular reflex;IEA|GO:0060007;linear vestibuloocular reflex;IEA|GO:0060384;innervation;IEA|GO:0090102;cochlea development;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0071944;cell periphery;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLITRK6 https://hpo.jax.org/app/browse/search?q=SLITRK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609681 http://www.informatics.jax.org/searchtool/Search.do?query=SLITRK6&submit=Quick%0D%15234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLITRK6 rs7991269 0.447284 0 0 1 0 0 intergenic intergenic intergenic SLITRK6(dist=1665500),MIR4500HG(dist=57259) SLITRK6(dist=1665500),MIR4500HG(dist=57259) ENSG00000228473(dist=6470),ENSG00000232636(dist=40472) Na Na Na Na Na Na Het;A>C 407;9|11 Ref Hom;A>C 287;0|7 N N - 13 88562066 88562066 T C snp intergenic LINC00397 rs9518832 0.374201 0 0 1 0 0 intergenic intergenic intergenic LINC00397(dist=99291),LINC00433(dist=631018) SLITRK5(dist=230196),LINC00433(dist=631018) ENSG00000232204(dist=17339),ENSG00000231019(dist=233056) Na Na Na Na Na Na Het;T>C 33;5|2 Ref Hom;T>C 217;0|6 N N - 13 88662609 88662609 G C snp intergenic LINC00397 rs2119921 0.43111 0 0 1 0 0 intergenic intergenic intergenic LINC00397(dist=199834),LINC00433(dist=530475) SLITRK5(dist=330739),LINC00433(dist=530475) ENSG00000232204(dist=117882),ENSG00000231019(dist=132513) Na Na Na Na Na Na Het;G>C 219;12|9 Ref Hom;G>C 543;0|15 N N - 13 88662943 88662943 A G snp intergenic LINC00397 rs2165697 0.430911 0 0 1 0 0 intergenic intergenic intergenic LINC00397(dist=200168),LINC00433(dist=530141) SLITRK5(dist=331073),LINC00433(dist=530141) ENSG00000232204(dist=118216),ENSG00000231019(dist=132179) Na Na Na Na Na Na Het;A>G 101;6|4 Ref Hom;A>G 150;0|5 N N - 13 88795180 88795180 G A snp ncRNA_exonic AL354896.1 rs7331233 0.688299 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00397(dist=332405),LINC00433(dist=397904) SLITRK5(dist=463310),LINC00433(dist=397904) ENSG00000231019 Na Na Na Na Na Na Het;G>A 2006;96|92 Ref Hom;G>A 6669;0|240 N N - 13 88795346 88795346 T G snp ncRNA_exonic AL354896.1 rs9586746 0.368411 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00397(dist=332571),LINC00433(dist=397738) SLITRK5(dist=463476),LINC00433(dist=397738) ENSG00000231019 Na Na Na Na Na Na Het;T>G 2093;113|91 Ref Hom;T>G 8069;3|278 N N - 13 88795543 88795543 T C snp ncRNA_intronic AL354896.1 rs9301007 0.422524 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00397(dist=332768),LINC00433(dist=397541) SLITRK5(dist=463673),LINC00433(dist=397541) ENSG00000231019 Na Na Na Na Na Na Het;T>C 41;3|2 Ref Hom;T>C 100;0|3 N N - 13 89193033 89193033 A T snp upstream LINC00433 rs7996551 0.941893 0 0 1 0 0 upstream upstream upstream LINC00433 LINC00433 ENSG00000229443 Na Na Na Na Na Na Het;A>T 218;19|12 Ref Hom;A>T 662;0|23 N N - 13 90129913 90129913 A G snp ncRNA_exonic LINC01040 rs3736408 0.405351 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00440(dist=197419),LINC00353(dist=71135) LINC00433(dist=932149),LINC00353(dist=71135) ENSG00000226037 Na Na Na Na Na Na Het;A>G 646;22|26 Ref Hom;A>G 1473;0|52 N N - 13 90152724 90152724 G A snp ncRNA_exonic LINC01040 rs9555902 0.410942 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00440(dist=220230),LINC00353(dist=48324) LINC00433(dist=954960),LINC00353(dist=48324) ENSG00000226037 Na Na Na Na Na Na Het;G>A 403;34|21 Ref Hom;G>A 1693;0|62 N N - 13 92458607 92458607 A G snp intronic GPC5 Gpc5 ENSG00000179399 glypican 5 chr13:92050929-93519490 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] Multiple Sclerosis; lung cancer ; Glucose; height; HIV-1; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; Multiple Sclerosis, Relapsing-Remitting|Recurrence; Monocyte Chemoattractant Protein-1; Coronary Artery Disease; multiple sclerosis; Body Mass Index; Stroke; kidney aging; Lung Neoplasms; lung cancer; hair thickness; Cholesterol, HDL; serum metabolites; Platelet Aggregation; Hip; Body Weight; Echocardiography; Colitis, Ulcerative|Crohn Disease|; Mental Competency; Crohn Disease|Crohn's disease; Docosahexaenoic Acids; Nephrotic Syndrome Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC5 https://www.ncbi.nlm.nih.gov/omim/?term=602446 http://www.informatics.jax.org/searchtool/Search.do?query=GPC5&submit=Quick%0D%14336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC5 rs9301756 0.708666 0 0 1 0 0 intronic intronic intronic GPC5 GPC5 ENSG00000179399 Na Na Na Na Na Na Het;A>G 315;6|10 Ref Hom;A>G 312;0|8 N N - 13 92610004 92610004 T G snp intronic GPC5 Gpc5 ENSG00000179399 glypican 5 chr13:92050929-93519490 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] Multiple Sclerosis; lung cancer ; Glucose; height; HIV-1; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; Multiple Sclerosis, Relapsing-Remitting|Recurrence; Monocyte Chemoattractant Protein-1; Coronary Artery Disease; multiple sclerosis; Body Mass Index; Stroke; kidney aging; Lung Neoplasms; lung cancer; hair thickness; Cholesterol, HDL; serum metabolites; Platelet Aggregation; Hip; Body Weight; Echocardiography; Colitis, Ulcerative|Crohn Disease|; Mental Competency; Crohn Disease|Crohn's disease; Docosahexaenoic Acids; Nephrotic Syndrome Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC5 https://www.ncbi.nlm.nih.gov/omim/?term=602446 http://www.informatics.jax.org/searchtool/Search.do?query=GPC5&submit=Quick%0D%14336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC5 rs1411516 0.671126 0 0 1 0 0 intronic intronic intronic GPC5 GPC5 ENSG00000179399 Na Na Na Na Na Na Het;T>G 272;11|13 Ref Hom;T>G 924;0|35 N N - 13 93242628 93242628 T C snp intronic GPC5 Gpc5 ENSG00000179399 glypican 5 chr13:92050929-93519490 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] Multiple Sclerosis; lung cancer ; Glucose; height; HIV-1; Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Crohn Disease|Rectal Fistula; Tobacco Use Disorder; Multiple Sclerosis, Relapsing-Remitting|Recurrence; Monocyte Chemoattractant Protein-1; Coronary Artery Disease; multiple sclerosis; Body Mass Index; Stroke; kidney aging; Lung Neoplasms; lung cancer; hair thickness; Cholesterol, HDL; serum metabolites; Platelet Aggregation; Hip; Body Weight; Echocardiography; Colitis, Ulcerative|Crohn Disease|; Mental Competency; Crohn Disease|Crohn's disease; Docosahexaenoic Acids; Nephrotic Syndrome Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC5 https://www.ncbi.nlm.nih.gov/omim/?term=602446 http://www.informatics.jax.org/searchtool/Search.do?query=GPC5&submit=Quick%0D%14336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC5 rs9523721 0.432109 0 0 1 0 0 intronic intronic intronic GPC5 GPC5 ENSG00000179399 Na Na Na Na Na Na Het;T>C 208;5|9 Ref Hom;T>C 80;0|5 N N - 13 94806520 94806520 T TTAAA indel ncRNA_exonic GPC6-AS1 rs2308007 0.864417 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic GPC6-AS1 GPC6 ENSG00000236520 Na Na Na Na Na Na Het;+TAAA 2945;65|72 Ref Hom;+TAAA 4782;0|104 N N - 13 95157061 95157061 T C snp intergenic DCT Dct ENSG00000080166 dopachrome tautomerase chr13:95089558-95131936 Intervertebral Disk Displacement Mutations in this melanocyte protein gene cause coat color dilution. Melanin biosynthesis GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006583;melanin biosynthetic process from tyrosine;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;TAS|GO:0021847;ventricular zone neuroblast division;IEA|GO:0042438;melanin biosynthetic process;TAS|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048468;cell development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IEA GO:0004167;dopachrome isomerase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0016491;oxidoreductase activity;TAS|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCT https://www.uniprot.org/uniprot/P40126 https://www.ncbi.nlm.nih.gov/omim/?term=191275 http://www.informatics.jax.org/searchtool/Search.do?query=DCT&submit=Quick%0D%1721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCT rs9561574 0.545327 0 0 1 0 0 intergenic intergenic intergenic DCT(dist=25125),TGDS(dist=69247) DCT(dist=25125),TRNA(dist=44843) ENSG00000080166(dist=25125),ENSG00000088451(dist=69247) Na Na Na Na Na Na Het;T>C 220;9|7 Ref Hom;T>C 362;0|10 N N - 13 95157167 95157167 C T snp intergenic DCT Dct ENSG00000080166 dopachrome tautomerase chr13:95089558-95131936 Intervertebral Disk Displacement Mutations in this melanocyte protein gene cause coat color dilution. Melanin biosynthesis GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006583;melanin biosynthetic process from tyrosine;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;TAS|GO:0021847;ventricular zone neuroblast division;IEA|GO:0042438;melanin biosynthetic process;TAS|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048468;cell development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IEA GO:0004167;dopachrome isomerase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0016491;oxidoreductase activity;TAS|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCT https://www.uniprot.org/uniprot/P40126 https://www.ncbi.nlm.nih.gov/omim/?term=191275 http://www.informatics.jax.org/searchtool/Search.do?query=DCT&submit=Quick%0D%1721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCT rs9556382 0.444289 0 0 1 0 0 intergenic intergenic intergenic DCT(dist=25231),TGDS(dist=69141) DCT(dist=25231),TRNA(dist=44737) ENSG00000080166(dist=25231),ENSG00000088451(dist=69141) Na Na Na Na Na Na Het;C>T 585;52|33 Ref Hom;C>T 1552;0|61 N N - 13 95157208 95157208 T C snp intergenic DCT Dct ENSG00000080166 dopachrome tautomerase chr13:95089558-95131936 Intervertebral Disk Displacement Mutations in this melanocyte protein gene cause coat color dilution. Melanin biosynthesis GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006583;melanin biosynthetic process from tyrosine;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;TAS|GO:0021847;ventricular zone neuroblast division;IEA|GO:0042438;melanin biosynthetic process;TAS|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048468;cell development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IEA GO:0004167;dopachrome isomerase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0016491;oxidoreductase activity;TAS|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCT https://www.uniprot.org/uniprot/P40126 https://www.ncbi.nlm.nih.gov/omim/?term=191275 http://www.informatics.jax.org/searchtool/Search.do?query=DCT&submit=Quick%0D%1721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCT rs9561575 0.414537 0 0 1 0 0 intergenic intergenic intergenic DCT(dist=25272),TGDS(dist=69100) DCT(dist=25272),TRNA(dist=44696) ENSG00000080166(dist=25272),ENSG00000088451(dist=69100) Na Na Na Na Na Na Het;T>C 876;54|39 Ref Hom;T>C 1696;0|61 N N - 13 95157282 95157282 A G snp intergenic DCT Dct ENSG00000080166 dopachrome tautomerase chr13:95089558-95131936 Intervertebral Disk Displacement Mutations in this melanocyte protein gene cause coat color dilution. Melanin biosynthesis GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006583;melanin biosynthetic process from tyrosine;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;TAS|GO:0021847;ventricular zone neuroblast division;IEA|GO:0042438;melanin biosynthetic process;TAS|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048468;cell development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IEA GO:0004167;dopachrome isomerase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0016491;oxidoreductase activity;TAS|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCT https://www.uniprot.org/uniprot/P40126 https://www.ncbi.nlm.nih.gov/omim/?term=191275 http://www.informatics.jax.org/searchtool/Search.do?query=DCT&submit=Quick%0D%1721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCT rs9556383 0.444289 0 0 1 0 0 intergenic intergenic intergenic DCT(dist=25346),TGDS(dist=69026) DCT(dist=25346),TRNA(dist=44622) ENSG00000080166(dist=25346),ENSG00000088451(dist=69026) Na Na Na Na Na Na Het;A>G 536;32|26 Ref Hom;A>G 1159;0|40 N N - 13 95157344 95157344 T G snp intergenic DCT Dct ENSG00000080166 dopachrome tautomerase chr13:95089558-95131936 Intervertebral Disk Displacement Mutations in this melanocyte protein gene cause coat color dilution. Melanin biosynthesis GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006583;melanin biosynthetic process from tyrosine;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;TAS|GO:0021847;ventricular zone neuroblast division;IEA|GO:0042438;melanin biosynthetic process;TAS|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048468;cell development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IEA GO:0004167;dopachrome isomerase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0016491;oxidoreductase activity;TAS|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCT https://www.uniprot.org/uniprot/P40126 https://www.ncbi.nlm.nih.gov/omim/?term=191275 http://www.informatics.jax.org/searchtool/Search.do?query=DCT&submit=Quick%0D%1721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCT rs9556384 0.444089 0 0 1 0 0 intergenic intergenic intergenic DCT(dist=25408),TGDS(dist=68964) DCT(dist=25408),TRNA(dist=44560) ENSG00000080166(dist=25408),ENSG00000088451(dist=68964) Na Na Na Na Na Na Het;T>G 445;14|18 Ref Hom;T>G 611;0|22 N N - 13 95168285 95168285 A AGCTTCTTGATGCT indel intergenic DCT Dct ENSG00000080166 dopachrome tautomerase chr13:95089558-95131936 Intervertebral Disk Displacement Mutations in this melanocyte protein gene cause coat color dilution. Melanin biosynthesis GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006583;melanin biosynthetic process from tyrosine;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;TAS|GO:0021847;ventricular zone neuroblast division;IEA|GO:0042438;melanin biosynthetic process;TAS|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048468;cell development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0033162;melanosome membrane;TAS|GO:0042470;melanosome;IEA GO:0004167;dopachrome isomerase activity;IEA|GO:0005507;copper ion binding;TAS|GO:0016491;oxidoreductase activity;TAS|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCT https://www.uniprot.org/uniprot/P40126 https://www.ncbi.nlm.nih.gov/omim/?term=191275 http://www.informatics.jax.org/searchtool/Search.do?query=DCT&submit=Quick%0D%1721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCT rs138607548 0.405551 0 0 1 0 0 intergenic intergenic intergenic DCT(dist=36349),TGDS(dist=58023) DCT(dist=36349),TRNA(dist=33619) ENSG00000080166(dist=36349),ENSG00000088451(dist=58023) Na Na Na Na Na Na Het;+GCTTCTTGATGCT 86;1|3 Ref Hom;+GCTTCTTGATGCT 233;0|6 N N - 13 95263924 95263924 C T snp intronic GPR180 Gpr180 ENSG00000152749 G protein-coupled receptor 180 chr13:95254157-95286899 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are resistant to cuff-induced intimal thickening of the femoral artery. GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0019236;response to pheromone;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/GPR180 https://www.uniprot.org/uniprot/Q86V85 https://www.ncbi.nlm.nih.gov/omim/?term=607787 http://www.informatics.jax.org/searchtool/Search.do?query=GPR180&submit=Quick%0D%9585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR180 rs7981788 0.279952 0 0 1 0 0 intronic intronic intronic GPR180 GPR180 ENSG00000152749 Na Na Na Na Na Na Het;C>T 38;4|3 Ref Hom;C>T 109;0|5 N N - 13 95264604 95264604 C T snp synonymous SNV C465T A155A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GPR180 Gpr180 ENSG00000152749 G protein-coupled receptor 180 chr13:95254157-95286899 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are resistant to cuff-induced intimal thickening of the femoral artery. GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0019236;response to pheromone;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/GPR180 https://www.uniprot.org/uniprot/Q86V85 https://www.ncbi.nlm.nih.gov/omim/?term=607787 http://www.informatics.jax.org/searchtool/Search.do?query=GPR180&submit=Quick%0D%9585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR180 rs9524559 0.279952 0.3159 0.3315 1 0 0 exonic exonic exonic GPR180 GPR180 ENSG00000152749 synonymous SNV synonymous SNV unknown GPR180:NM_180989:exon3:c.C465T:p.A155A, GPR180:uc001vlz.3:exon3:c.C162T:p.A54A,GPR180:uc001vly.3:exon3:c.C465T:p.A155A, UNKNOWN Het;C>T 749;40|34 Ref Hom;C>T 2644;3|99 N N - 13 95279505 95279505 T A snp UTR3 *80T>A GPR180 Gpr180 ENSG00000152749 G protein-coupled receptor 180 chr13:95254157-95286899 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are resistant to cuff-induced intimal thickening of the femoral artery. GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0019236;response to pheromone;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/GPR180 https://www.uniprot.org/uniprot/Q86V85 https://www.ncbi.nlm.nih.gov/omim/?term=607787 http://www.informatics.jax.org/searchtool/Search.do?query=GPR180&submit=Quick%0D%9585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR180 rs9524568 0.244209 0 0 1 0 0 UTR3 UTR3 UTR3 GPR180(NM_180989:c.*80T>A) GPR180(uc001vly.3:c.*80T>A,uc001vlz.3:c.*80T>A,uc010afi.3:c.*80T>A) ENSG00000152749(ENST00000376958:c.*80T>A) Na Na Na Na Na Na Het;T>A 594;24|24 Ref Hom;T>A 2359;0|87 N N - 13 95367610 95367610 A T snp ncRNA_exonic SOX21-AS1 rs7982791 0.392971 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SOX21-AS1 AK055459 ENSG00000227640 Na Na Na Na Na Na Het;A>T 947;31|35 Ref Hom;A>T 2700;0|94 N N - 13 95612617 95612617 A C snp ncRNA_exonic LINC00557 rs9524712 0.808506 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00557 BC045767(dist=24953),ABCC4(dist=59466) ENSG00000260962 Na Na Na Na Na Na Het;A>C 653;44|27 Ref Hom;A>C 1910;2|66 N N - 13 95612912 95612912 G A snp ncRNA_exonic LINC00557 rs9524713 0.807907 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00557 BC045767(dist=25248),ABCC4(dist=59171) ENSG00000260962 Na Na Na Na Na Na Het;G>A 873;64|43 Ref Hom;G>A 3042;0|112 N N - 13 95613366 95613366 G A snp ncRNA_exonic LINC00557 rs6492757 0.732428 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00557 BC045767(dist=25702),ABCC4(dist=58717) ENSG00000260962 Na Na Na Na Na Na Het;G>A 1525;72|67 Ref Hom;G>A 3635;0|131 N N - 13 95829870 95829870 T C snp intronic ABCC4 Abcc4 ENSG00000125257 ATP binding cassette subfamily C member 4 chr13:95672083-95953687 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] Longevity; lung cancer ; lung cancer; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; chronic obstructive pulmonary disease; HIV Infections|Kidney Failure; pharmacogenetic studies; Breast cancer; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Count; bladder cancer; Breath Tests; Tobacco Use Disorder; Lipoproteins, VLDL; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Platelet Count; Diabetic Nephropathies; kidney disease; Adenocarcinoma|Pancreatic Neoplasms Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. ABC-family proteins mediated transport GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0008150;biological_process;ND|GO:0010033;response to organic substance;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0032310;prostaglandin secretion;IDA|GO:0042493;response to drug;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0055085;transmembrane transport;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0060271;cilium assembly;IMP|GO:0099131;ATP hydrolysis coupled ion transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031088;platelet dense granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0015662;ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism;TAS|GO:0016404;15-hydroxyprostaglandin dehydrogenase (NAD+) activity;NAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABCC4 https://www.uniprot.org/uniprot/O15439 https://www.ncbi.nlm.nih.gov/omim/?term=605250 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC4&submit=Quick%0D%5752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC4 rs1751005 0.764776 0 0 1 0 0 intronic intronic intronic ABCC4 ABCC4 ENSG00000125257 Na Na Na Na Na Na Het;T>C 136;8|5 Ref Hom;T>C 398;0|11 N N - 13 95926716 95926716 A G snp intronic ABCC4 Abcc4 ENSG00000125257 ATP binding cassette subfamily C member 4 chr13:95672083-95953687 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] Longevity; lung cancer ; lung cancer; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; chronic obstructive pulmonary disease; HIV Infections|Kidney Failure; pharmacogenetic studies; Breast cancer; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Count; bladder cancer; Breath Tests; Tobacco Use Disorder; Lipoproteins, VLDL; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Platelet Count; Diabetic Nephropathies; kidney disease; Adenocarcinoma|Pancreatic Neoplasms Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. ABC-family proteins mediated transport GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0008150;biological_process;ND|GO:0010033;response to organic substance;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0032310;prostaglandin secretion;IDA|GO:0042493;response to drug;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0055085;transmembrane transport;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0060271;cilium assembly;IMP|GO:0099131;ATP hydrolysis coupled ion transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031088;platelet dense granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0015662;ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism;TAS|GO:0016404;15-hydroxyprostaglandin dehydrogenase (NAD+) activity;NAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABCC4 https://www.uniprot.org/uniprot/O15439 https://www.ncbi.nlm.nih.gov/omim/?term=605250 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC4&submit=Quick%0D%5752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC4 rs9556468 0.753794 0 0 1 0 0 intronic intronic intronic ABCC4 ABCC4 ENSG00000125257 Na Na Na Na Na Na Het;A>G 716;35|30 Ref Hom;A>G 2111;0|80 N N - 13 96443047 96443047 T A snp intronic DNAJC3 Dnajc3 ENSG00000102580 DnaJ heat shock protein family (Hsp40) member C3 chr13:96329393-96447243 This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010] Lipoproteins, HDL Homozygous null mice are smaller in size, have a lower percentage of body fat and develop a gradual onset of glucosuria and hyperglycemia associated with increasing apoptosis of pancreatic islet cells. Post-translational protein phosphorylation GO:0006417;regulation of translation;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006986;response to unfolded protein;IEA|GO:0036494;positive regulation of translation initiation in response to endoplasmic reticulum stress;ISS|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0051607;defense response to virus;IEA|GO:0070417;cellular response to cold;ISS|GO:1903912;negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation;IMP GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IDA|GO:0031205;endoplasmic reticulum Sec complex;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0004860;protein kinase inhibitor activity;TAS|GO:0019901;protein kinase binding;ISS|GO:0051087;chaperone binding;IEA|GO:0051787;misfolded protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAJC3 https://www.uniprot.org/uniprot/Q13217 https://hpo.jax.org/app/browse/search?q=DNAJC3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601184 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJC3&submit=Quick%0D%2895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJC3 Na 0 0 0 1 0 0 intronic intronic intronic DNAJC3 DNAJC3 ENSG00000102580 Na Na Na Na Na Na Het;T>A 32;9|4 Ref Hom;T>A 158;1|7 N N - 13 98426707 98426707 C T snp intergenic RAP2A Rap2a ENSG00000125249 RAP2A, member of RAS oncogene family chr13:98086476-98121382 Myocardial Infarction; Echocardiography; Blood Pressure GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0007165;signal transduction;IEA|GO:0030033;microvillus assembly;IMP|GO:0030336;negative regulation of cell migration;IEA|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032486;Rap protein signal transduction;IEA|GO:0034613;cellular protein localization;IDA|GO:0035690;cellular response to drug;IDA|GO:0045184;establishment of protein localization;IDA|GO:0046328;regulation of JNK cascade;IDA|GO:0048814;regulation of dendrite morphogenesis;IDA|GO:0072659;protein localization to plasma membrane;IMP GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IMP|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IMP|GO:0019003;GDP binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/RAP2A https://www.uniprot.org/uniprot/P10114 https://www.ncbi.nlm.nih.gov/omim/?term=179540 http://www.informatics.jax.org/searchtool/Search.do?query=RAP2A&submit=Quick%0D%5750ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP2A rs2994604 0.76238 0 0 1 0 0 intergenic intergenic intergenic RAP2A(dist=306455),IPO5(dist=179222) RAP2A(dist=306455),IPO5(dist=179222) ENSG00000226134(dist=96490),ENSG00000238407(dist=111356) Na Na Na Na Na Na Het;C>T 43;2|3 Ref Hom;C>T 95;0|5 N N - 13 99216774 99216774 G T snp intronic STK24 Stk24 ENSG00000102572 serine/threonine kinase 24 chr13:99102455-99230194 This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Alzheimer Disease; Tobacco Use Disorder; Bipolar Disorder; Longevity; Celiac Disease|; Erythrocyte Count A hypomorphic mutation increases degranulation of, and exocytosis by, neutrophils. Apoptotic execution phase GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IMP|GO:0009267;cellular response to starvation;IMP|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030336;negative regulation of cell migration;IMP|GO:0042542;response to hydrogen peroxide;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048679;regulation of axon regeneration;IMP|GO:0097194;execution phase of apoptosis;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK24 https://www.uniprot.org/uniprot/Q9Y6E0 https://www.ncbi.nlm.nih.gov/omim/?term=604984 http://www.informatics.jax.org/searchtool/Search.do?query=STK24&submit=Quick%0D%2893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK24 rs9584865 0.157149 0 0 1 0 0 intronic intronic intronic STK24 STK24 ENSG00000102572 Na Na Na Na Na Na Het;G>T 60;2|5 Ref Hom;G>T 56;0|4 N N - 13 99340037 99340037 C T snp intronic SLC15A1 Slc15a1 ENSG00000088386 solute carrier family 15 member 1 chr13:99336055-99404908 This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010] Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Tobacco Use Disorder; inflammatory bowel disease ; Hyperparathyroidism, Secondary Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene. Proton/oligopeptide cotransporters GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006857;oligopeptide transport;IEA|GO:0007586;digestion;TAS|GO:0015031;protein transport;IEA|GO:0015833;peptide transport;IEA|GO:0015992;proton transport;IEA|GO:0035672;oligopeptide transmembrane transport;IEA|GO:0042938;dipeptide transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0015198;oligopeptide transporter activity;IEA|GO:0015252;hydrogen ion channel activity;IEA|GO:0015293;symporter activity;IEA|GO:0015333;peptide:proton symporter activity;TAS|GO:0042936;dipeptide transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC15A1 https://www.uniprot.org/uniprot/P46059 https://www.ncbi.nlm.nih.gov/omim/?term=600544 http://www.informatics.jax.org/searchtool/Search.do?query=SLC15A1&submit=Quick%0D%2000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC15A1 rs950905 0.255192 0 0 1 0 0 intronic intronic intronic SLC15A1 SLC15A1 ENSG00000088386 Na Na Na Na Na Na Het;C>T 604;18|24 Het;C>T 142;21|8 Hom;C>T 1133;0|39 N N - 13 99376181 99376181 C T snp nonsynonymous SNV G350A S117N polar,hydrophilic,neutral polar,hydrophilic,neutral SLC15A1 Slc15a1 ENSG00000088386 solute carrier family 15 member 1 chr13:99336055-99404908 This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010] Chronic renal failure|Kidney Failure, Chronic; drug-related genes ; Tobacco Use Disorder; inflammatory bowel disease ; Hyperparathyroidism, Secondary Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene. Proton/oligopeptide cotransporters GO:0006810;transport;TAS|GO:0006811;ion transport;TAS|GO:0006857;oligopeptide transport;IEA|GO:0007586;digestion;TAS|GO:0015031;protein transport;IEA|GO:0015833;peptide transport;IEA|GO:0015992;proton transport;IEA|GO:0035672;oligopeptide transmembrane transport;IEA|GO:0042938;dipeptide transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0015198;oligopeptide transporter activity;IEA|GO:0015252;hydrogen ion channel activity;IEA|GO:0015293;symporter activity;IEA|GO:0015333;peptide:proton symporter activity;TAS|GO:0042936;dipeptide transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC15A1 https://www.uniprot.org/uniprot/P46059 https://www.ncbi.nlm.nih.gov/omim/?term=600544 http://www.informatics.jax.org/searchtool/Search.do?query=SLC15A1&submit=Quick%0D%2000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC15A1 rs2297322 0.308506 0.1739 0.2138 0.15 2 13 exonic exonic exonic SLC15A1 SLC15A1 ENSG00000088386 nonsynonymous SNV nonsynonymous SNV unknown SLC15A1:NM_005073:exon5:c.G350A:p.S117N, SLC15A1:uc001vno.3:exon5:c.G350A:p.S117N,SLC15A1:uc001vnp.1:exon3:c.G254A:p.S85N, UNKNOWN Het;C>T 705;71|41 Het;C>T 678;34|31 Hom;C>T 2392;2|91 N N - 13 99853912 99853916 CAGTT C indel intronic UBAC2 Ubac2 ENSG00000134882 UBA domain containing 2 chr13:99853028-100038688 Behcets disease; Tobacco Use Disorder GO:0006508;proteolysis;IEA|GO:0070972;protein localization to endoplasmic reticulum;IDA|GO:1904153;negative regulation of retrograde protein transport, ER to cytosol;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/UBAC2 https://www.uniprot.org/uniprot/Q8NBM4 https://hpo.jax.org/app/browse/search?q=UBAC2&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=UBAC2&submit=Quick%0D%7050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAC2 rs34924388 0.35004 0 0 1 0 0 intronic intronic intronic UBAC2 UBAC2 ENSG00000134882 Na Na Na Na Na Na Het;-AGTT 242;5|7 Het;-AGTT 206;3|6 Hom;-AGTT 413;0|10 N N - 14 100226099 100226099 G A snp intronic EML1 Eml1 ENSG00000066629 echinoderm microtubule associated protein like 1 chr14:100204030-100408397 Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alzheimer Disease Mice homozygous for a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits. GO:0000226;microtubule cytoskeleton organization;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007052;mitotic spindle organization;ISS|GO:0007405;neuroblast proliferation;ISS|GO:0007420;brain development;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0097431;mitotic spindle pole;ISS|GO:1990023;mitotic spindle midzone;ISS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IMP|GO:0015631;tubulin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EML1 https://www.uniprot.org/uniprot/O00423 https://hpo.jax.org/app/browse/search?q=EML1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602033 http://www.informatics.jax.org/searchtool/Search.do?query=EML1&submit=Quick%0D%1226ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EML1 rs17099012 0.334665 0 0 1 0 0 intergenic intronic intronic CYP46A1(dist=32461),EML1(dist=33646) EML1 ENSG00000066629 Na Na Na Na Na Na Het;G>A 437;17|22 Het;G>A 145;22|10 Hom;G>A 932;0|38 N N - 14 100743555 100743555 C T snp intronic YY1 Yy1 ENSG00000100811 YY1 transcription factor chr14:100704635-100749129 YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygous null mice die in utero shortly after implantation. Incomplete penetrance of embryonic growth retardation and exencephaly are observed in haploinsufficient mice. TFAP2 (AP-2) family regulates transcription of growth factors and their receptors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007283;spermatogenesis;IEA|GO:0010225;response to UV-C;IMP|GO:0010629;negative regulation of gene expression;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030154;cell differentiation;IEA|GO:0034644;cellular response to UV;IMP GO:0005634;nucleus;IMP|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;IEA|GO:0031011;Ino80 complex;IDA GO:0000400;four-way junction DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001158;enhancer sequence-specific DNA binding;IMP|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046332;SMAD binding;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YY1 https://www.uniprot.org/uniprot/P25490 https://hpo.jax.org/app/browse/search?q=YY1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600013 http://www.informatics.jax.org/searchtool/Search.do?query=YY1&submit=Quick%0D%2600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YY1 rs35788933 0.268171 0 0 1 0 0 intronic intronic intronic YY1 YY1 ENSG00000100811 Na Na Na Na Na Na Het;C>T 145;5|5 Ref Hom;C>T 101;0|4 N N - 14 101522556 101522556 T C snp ncRNA_exonic MIR323B rs56103835 0.297923 0.1576 0.2714 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR323B MIR323B ENSG00000208004 Na Na Na Na Na Na Het;T>C 75;9|6 Het;T>C 191;6|8 Hom;T>C 296;0|12 N N - 14 101526728 101526728 C G snp upstream;downstream ENSG00000207961 rs28398839 0.33147 0 0 1 0 0 upstream;downstream upstream;downstream upstream;downstream MIR496;MIR154 MIR496;MIR154,Mir_154 ENSG00000207961;ENSG00000207978 Na Na Na Na Na Na Het;C>G 158;2|5 Ref Hom;C>G 143;0|4 N N - 14 101533288 101533288 A G snp downstream MIR410 rs8015875 0.51258 0 0 1 0 0 downstream downstream downstream MIR410,MIR656 MIR410,MIR656,Mir_154 ENSG00000199092,ENSG00000207959 Na Na Na Na Na Na Het;A>G 118;1|4 Ref Hom;A>G 127;0|4 N N - 14 101544265 101544265 T C snp upstream AL132709.1 rs4906038 0.697883 0 0 1 0 0 intergenic intergenic upstream MEG9(dist=4992),LINC00524(dist=328059) BC148240(dist=3345),DIO3AS(dist=474295) ENSG00000230805 Na Na Na Na Na Na Het;T>C 81;2|3 Ref Hom;T>C 62;0|3 N N - 14 101874349 101874349 A G snp upstream LINC00524 rs9324038 0.798522 0 0 1 0 0 upstream intergenic upstream LINC00524 BC148240(dist=333429),DIO3AS(dist=144211) ENSG00000259023 Na Na Na Na Na Na Het;A>G 458;25|20 Het;A>G 222;12|9 Hom;A>G 691;0|24 N N - 14 102486200 102486200 G A snp intronic DYNC1H1 Dync1h1 ENSG00000197102 dynein cytoplasmic 1 heavy chain 1 chr14:102430865-102517129 Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008] Narcolepsy; Menopause; Blood Pressure Determination; ALS/amyotrophic lateral sclerosis Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007018;microtubule-based movement;IEA|GO:0007052;mitotic spindle organization;NAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0033962;cytoplasmic mRNA processing body assembly;IEA|GO:0034063;stress granule assembly;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051293;establishment of spindle localization;IMP|GO:0060236;regulation of mitotic spindle organization;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;NAS|GO:0005874;microtubule;IDA|GO:0016020;membrane;IDA|GO:0030175;filopodium;IEA|GO:0030286;dynein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA|GO:0051959;dynein light intermediate chain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DYNC1H1 https://hpo.jax.org/app/browse/search?q=DYNC1H1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600112 http://www.informatics.jax.org/searchtool/Search.do?query=DYNC1H1&submit=Quick%0D%16543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC1H1 rs2180510 0.269968 0.2011 0.1726 1 0 0 intronic intronic intronic DYNC1H1 DYNC1H1 ENSG00000197102 Na Na Na Na Na Na Het;G>A 725;21|31 Ref Hom;G>A 1701;0|60 N N - 14 102918686 102918686 T C snp intronic TECPR2 Tecpr2 ENSG00000196663 tectonin beta-propeller repeat containing 2 chr14:102829300-102968818 The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Hereditary Spastic Paraparesis GO:0006914;autophagy;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TECPR2 https://hpo.jax.org/app/browse/search?q=TECPR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615000 http://www.informatics.jax.org/searchtool/Search.do?query=TECPR2&submit=Quick%0D%16434ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR2 rs1190554 0.730232 0.6966 0.6902 1 0 0 intronic intronic intronic TECPR2 TECPR2 ENSG00000196663 Na Na Na Na Na Na Het;T>C 334;14|14 Het;T>C 229;10|11 Hom;T>C 763;0|29 N N - 14 102964654 102964654 A G snp UTR3 *60A>G TECPR2 Tecpr2 ENSG00000196663 tectonin beta-propeller repeat containing 2 chr14:102829300-102968818 The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Hereditary Spastic Paraparesis GO:0006914;autophagy;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TECPR2 https://hpo.jax.org/app/browse/search?q=TECPR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615000 http://www.informatics.jax.org/searchtool/Search.do?query=TECPR2&submit=Quick%0D%16434ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR2 rs2403058 0.758786 0 0 1 0 0 UTR3 UTR3 UTR3 TECPR2(NM_014844:c.*60A>G) TECPR2(uc001ylw.2:c.*60A>G,uc010txx.2:c.*60A>G) ENSG00000196663(ENST00000359520:c.*60A>G) Na Na Na Na Na Na Het;A>G 878;39|38 Het;A>G 764;29|31 Hom;A>G 1327;0|46 N N - 14 104136394 104136394 A G snp intronic KLC1 Klc1 ENSG00000126214 kinesin light chain 1 chr14:104028233-104167888 Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Hypertension|Leukoaraiosis; melanoma|Skin Neoplasms; null; Alzheimer's Disease; Multiple Sclerosis, Relapsing-Remitting; benzene haematotoxicity; Cataract|; Hypoxia-Ischemia, Brain|Stroke; cognitive impairment Mice homozygous for disruptions in this gene are significantly smaller than normal. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0016032;viral process;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0035617;stress granule disassembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLC1 https://www.uniprot.org/uniprot/Q07866 https://www.ncbi.nlm.nih.gov/omim/?term=600025 http://www.informatics.jax.org/searchtool/Search.do?query=KLC1&submit=Quick%0D%5912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLC1 rs77849213 0.0465256 0 0 1 0 0 intronic intronic intronic KLC1 KLC1 ENSG00000126214,ENSG00000256500 Na Na Na Na Na Na Het;A>G 189;9|8 Het;A>G 128;4|5 Hom;A>G 189;0|6 N N - 14 104174825 104174825 G A snp intronic XRCC3 Xrcc3 ENSG00000126215 X-ray repair cross complementing 3 chr14:104163946-104181841 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] chromosome damage DNA damage; melanoma|Skin Neoplasms; Brain Neoplasms|Glioma; drug hypersensitivity leukemia; Leukemia, Myeloid, Acute; DNA adducts; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; smoking; DNA Damage|Micronuclei, Chromosome-Defective; p53 alterations; Type 2 Diabetes| edema | rosiglitazone; head and neck cancer; Carcinoma, Papillary|Thyroid Neoplasms; null; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; melanoma; Mouth Neoplasms|Precancerous Conditions; Pancreatic Neoplasms; Colorectal Neoplasms; Multiple Myeloma; bladder cancer; cytogenetic studies; skin cancer, non-melanoma; ovarian cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; smoking genotoxic effects; subcutaneous fibrosis; Lupus Erythematosus, Systemic; Chromosome Aberrations|Chromosome abnormality; Myelodysplastic Syndromes; Thyroid Neoplasms; multiple sclerosis; melanoma; nevus; DNA Damage; Chronic renal failure|Kidney Failure, Chronic; Carcinoma, Papillary|DNA Damage|Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; colorectal cancer; bladder cancer, p53 mutation in; leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; breast cancer ; Carcinoma, Hepatocellular|; Biliary Tract Neoplasms|; DNA Damage|Radiation Injuries; benzene haematotoxicity; cytogenetic studies; breast cancer; lung cancer; stomach cancer; Chromosome Breakage; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Cleft Lip|Cleft Palate; leukemia; pancreatic cancer; chromosome anomalies DNA damage; normal variation; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Head and Neck Neoplasms; Breast Neoplasms|Mammary Neoplasms; Fibrosis|Neoplasms|Radiation Injuries; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; Adenocarcinoma|Stomach Neoplasms; Gastritis|Stomach Neoplasms; gastric cancer; chronic obstructive pulmonary disease; Hodgkin Disease; breast cancer; ovarian cancer; brain cancer; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Neoplasms, Radiation-Induced|thyroid neoplasm|Thyroid Neoplasms; Nasopharyngeal Neoplasms|Radiation Pneumonitis; cervical intraepithelial neoplasia grade 3; Brill-Symmers disease|Lymphoma, Follicular; lung cancer; bladder cancer; Myocardial Infarction; Carcinoma, Squamous Cell|Mouth Neoplasms; Adenocarcinoma|Carcinoma, Squamous Cell|Deglutition Disorders|Head and Neck Neoplasms|Radiodermatitis; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Head and Neck Neoplasms|Neoplasms, Multiple Primary; mutagen sensitivity; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; bladder cancer; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; kidney cancer; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; esophageal adenocarcinoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Precancerous Conditions|Squamous cell carcinoma; Adenoma|Colorectal Neoplasms; Chromosome Aberrations|Chromosome abnormality|Micronuclei, Chromosome-Defective; esophageal cancer; cancer; soft tissue sarcoma; Neoplasms; melanoma; skin cancer, non-melanoma; radiotherapy response; multiple myeloma; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; cytogenetic studies; nitrosamine; 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone; cytotoxicity; leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer; meningioma; Stomach Neoplasms; ovarian cancer; Cervical Neoplasm|Endometrial Neoplasms|Radiation Injuries|Uterine Cervical Neoplasms; oral cancer; cutaneous malignant melanoma; Chromosome Aberrations|Chromosome abnormality|DNA Damage|Neoplasms; benzene toxicity; prostate cancer; Chromosome Aberrations; lung cancer ; Chromosome Aberrations|DNA Damage; Leukemia, Myeloid, Acute|Recurrence; melanoma skin cancer; Astrocytoma|Glioblastoma; epithelial ovarian cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; cardia cancer stomach cancer; endometrial cancer; cervical cancer; radiosensitivity, clinical; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; radiotherapy; Chromosome Aberrations|Chromosome abnormality|Conjunctivitis|Peripheral Nervous System Diseases|Precancerous Conditions|Skin Diseases; Lymphoma, Non-Hodgkin Homologous DNA Pairing and Strand Exchange GO:0000707;meiotic DNA recombinase assembly;IBA|GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006281;DNA repair;TAS|GO:0006310;DNA recombination;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007131;reciprocal meiotic recombination;IBA|GO:0010033;response to organic substance;IEA|GO:0010212;response to ionizing radiation;IBA|GO:0010824;regulation of centrosome duplication;IMP|GO:0036297;interstrand cross-link repair;IMP|GO:0042148;strand invasion;IBA|GO:0071140;resolution of mitotic recombination intermediates;IMP|GO:0090267;positive regulation of mitotic cell cycle spindle assembly checkpoint;IMP|GO:0090656;t-circle formation;IC|GO:0090657;telomeric loop disassembly;TAS|GO:0090737;telomere maintenance via telomere trimming;IGI GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA|GO:0033063;Rad51B-Rad51C-Rad51D-XRCC2 complex;IBA|GO:0033065;Rad51C-XRCC3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000150;recombinase activity;IBA|GO:0000166;nucleotide binding;IEA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IBA|GO:0008821;crossover junction endodeoxyribonuclease activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/XRCC3 https://www.uniprot.org/uniprot/O43542 https://www.ncbi.nlm.nih.gov/omim/?term=600675 http://www.informatics.jax.org/searchtool/Search.do?query=XRCC3&submit=Quick%0D%5913ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XRCC3 rs1799795 0.0465256 0.0604 0.0611 1 0 0 intronic intronic intronic XRCC3 XRCC3 ENSG00000126215 Na Na Na Na Na Na Het;G>A 1747;100|84 Het;G>A 1262;37|61 Hom;G>A 3586;0|133 N N - 14 104193099 104193099 C G snp intronic ZFYVE21 Zfyve21 ENSG00000100711 zinc finger FYVE-type containing 21 chr14:104182067-104200005 melanoma|Skin Neoplasms; benzene haematotoxicity GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0046854;phosphatidylinositol phosphorylation;IBA GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005925;focal adhesion;IEA|GO:0010008;endosome membrane;IBA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE21 https://www.uniprot.org/uniprot/Q9BQ24 https://www.ncbi.nlm.nih.gov/omim/?term=613504 http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE21&submit=Quick%0D%2585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE21 rs2295151 0.59405 0.5911 0.5179 1 0 0 intronic intronic intronic ZFYVE21 ZFYVE21 ENSG00000100711 Na Na Na Na Na Na Het;C>G 832;49|38 Het;C>G 831;34|35 Hom;C>G 1986;0|70 N N - 14 104195610 104195610 T C snp intronic ZFYVE21 Zfyve21 ENSG00000100711 zinc finger FYVE-type containing 21 chr14:104182067-104200005 melanoma|Skin Neoplasms; benzene haematotoxicity GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0046854;phosphatidylinositol phosphorylation;IBA GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005925;focal adhesion;IEA|GO:0010008;endosome membrane;IBA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE21 https://www.uniprot.org/uniprot/Q9BQ24 https://www.ncbi.nlm.nih.gov/omim/?term=613504 http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE21&submit=Quick%0D%2585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE21 rs2295148 0.594649 0 0 1 0 0 intronic intronic intronic ZFYVE21 ZFYVE21 ENSG00000100711 Na Na Na Na Na Na Het;T>C 243;12|11 Het;T>C 216;4|9 Hom;T>C 521;0|16 N N - 14 104199356 104199356 C T snp UTR3 *1C>T ZFYVE21 Zfyve21 ENSG00000100711 zinc finger FYVE-type containing 21 chr14:104182067-104200005 melanoma|Skin Neoplasms; benzene haematotoxicity GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0046854;phosphatidylinositol phosphorylation;IBA GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005925;focal adhesion;IEA|GO:0010008;endosome membrane;IBA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE21 https://www.uniprot.org/uniprot/Q9BQ24 https://www.ncbi.nlm.nih.gov/omim/?term=613504 http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE21&submit=Quick%0D%2585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE21 rs2295146 0.38099 0.4292 0.3818 1 0 0 UTR3 UTR3 UTR3 ZFYVE21(NM_024071:c.*1C>T,NM_001198953:c.*1C>T) ZFYVE21(uc001yod.3:c.*1C>T,uc001yoc.3:c.*1C>T) ENSG00000100711(ENST00000216602:c.*1C>T,ENST00000311141:c.*1C>T) Na Na Na Na Na Na Het;C>T 698;36|31 Het;C>T 264;30|13 Hom;C>T 1099;0|40 N N - 14 104202304 104202304 G A snp intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs2295145 0.429113 0.4472 0.4321 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;G>A 475;19|20 Het;G>A 288;14|14 Hom;G>A 1041;0|34 N N - 14 104203938 104203938 G A snp intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs8004408 0.41274 0 0 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;G>A 66;5|3 Het;G>A 73;3|3 Hom;G>A 168;0|5 N N - 14 104206103 104206103 G A snp intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs45444495 0.0549121 0 0 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;G>A 334;15|12 Het;G>A 170;11|8 Hom;G>A 606;0|19 N N - 14 104215985 104215985 C T snp intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs3818085 0.413938 0 0 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;C>T 133;11|6 Het;C>T 144;3|5 Hom;C>T 324;0|9 N N - 14 104216293 104216293 C T snp intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs2295140 0.589657 0.5723 0.5058 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;C>T 888;40|37 Het;C>T 966;35|37 Hom;C>T 2234;0|78 N N - 14 104219578 104219578 C CT indel intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs35740460 0.399561 0 0.4268 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;+T 282;21|18 Het;+T 315;12|18 Hom;+T 603;4|30 N N - 14 104251276 104251276 T C snp intronic PPP1R13B Ppp1r13b ENSG00000088808 protein phosphatase 1 regulatory subunit 13B chr14:104200089-104313927 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Tobacco Use Disorder Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. Regulation of TP53 Activity through Association with Co-factors GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IDA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901216;positive regulation of neuron death;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R13B https://www.uniprot.org/uniprot/Q96KQ4 https://www.ncbi.nlm.nih.gov/omim/?term=606455 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R13B&submit=Quick%0D%2012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R13B rs3742369 0.360423 0.4088 0.3846 1 0 0 intronic intronic intronic PPP1R13B PPP1R13B ENSG00000088808 Na Na Na Na Na Na Het;T>C 573;24|26 Het;T>C 507;31|25 Hom;T>C 1711;0|61 N N - 14 104323023 104323023 G A snp ncRNA_exonic LINC00637 rs45604035 0.0984425 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00637 LINC00637 ENSG00000258735 Na Na Na Na Na Na Het;G>A 1940;87|84 Het;G>A 1808;76|78 Hom;G>A 3975;0|141 N N - 14 104716720 104716720 A G snp ncRNA_intronic AL590079.1 rs3935134 0.731829 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIF26A(dist=69485),C14orf180(dist=329301) KIF26A(dist=69485),AX746996(dist=259242) ENSG00000258913 Na Na Na Na Na Na Het;A>G 252;18|12 Het;A>G 118;15|9 Hom;A>G 708;0|28 N N - 14 104736256 104736256 C G snp ncRNA_intronic AL590079.1 rs4503729 0.406949 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIF26A(dist=89021),C14orf180(dist=309765) KIF26A(dist=89021),AX746996(dist=239706) ENSG00000258913 Na Na Na Na Na Na Het;C>G 796;72|36 Het;C>G 533;42|26 Hom;C>G 1627;0|57 N N - 14 104736311 104736311 C G snp ncRNA_intronic AL590079.1 rs34422243 0.477636 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIF26A(dist=89076),C14orf180(dist=309710) KIF26A(dist=89076),AX746996(dist=239651) ENSG00000258913 Na Na Na Na Na Na Het;C>G 2309;110|62 Het;C>G 3275;85|85 Hom;C>G 5033;0|112 N N - 14 104736317 104736317 A G snp ncRNA_intronic AL590079.1 rs4268695 0.477436 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIF26A(dist=89082),C14orf180(dist=309704) KIF26A(dist=89082),AX746996(dist=239645) ENSG00000258913 Na Na Na Na Na Na Het;A>G 2306;111|65 Het;A>G 3383;86|90 Hom;A>G 5194;0|114 N N - 14 104736330 104736330 A G snp ncRNA_intronic AL590079.1 rs34443200 0.477835 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIF26A(dist=89095),C14orf180(dist=309691) KIF26A(dist=89095),AX746996(dist=239632) ENSG00000258913 Na Na Na Na Na Na Het;A>G 1626;113|70 Het;A>G 2127;93|101 Hom;A>G 5796;0|138 N N - 14 105127721 105127721 T C snp ncRNA_exonic LINC02280 rs10873550 0.443091 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=56624),MIR4710(dist=16310) TMEM179(dist=56624),MIR4710(dist=16310) ENSG00000260792 Na Na Na Na Na Na Het;T>C 1928;71|75 Ref Hom;T>C 3759;0|130 N N - 14 105128025 105128025 G C snp ncRNA_exonic LINC02280 rs7158841 0.443091 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=56928),MIR4710(dist=16006) TMEM179(dist=56928),MIR4710(dist=16006) ENSG00000260792 Na Na Na Na Na Na Het;G>C 1117;76|49 Ref Hom;G>C 3804;3|143 N N - 14 105128104 105128104 T G snp ncRNA_exonic LINC02280 rs12434206 0.443291 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=57007),MIR4710(dist=15927) TMEM179(dist=57007),MIR4710(dist=15927) ENSG00000260792 Na Na Na Na Na Na Het;T>G 1627;70|80 Ref Hom;T>G 3704;2|148 N N - 14 105128473 105128473 T C snp ncRNA_exonic LINC02280 rs111299294 0.435703 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=57376),MIR4710(dist=15558) TMEM179(dist=57376),MIR4710(dist=15558) ENSG00000260792 Na Na Na Na Na Na Het;T>C 880;94|44 Ref Hom;T>C 2185;0|77 N N - 14 105128810 105128810 T C snp ncRNA_exonic LINC02280 rs371518906 0.170727 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=57713),MIR4710(dist=15221) TMEM179(dist=57713),MIR4710(dist=15221) ENSG00000260792 Na Na Na Na Na Na Het;T>C 1079;123|52 Ref Hom;T>C 2230;6|78 N N - 14 105129747 105129747 T C snp ncRNA_exonic LINC02280 rs56003625 0.444089 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=58650),MIR4710(dist=14284) TMEM179(dist=58650),MIR4710(dist=14284) ENSG00000260792 Na Na Na Na Na Na Het;T>C 142;6|5 Ref Hom;T>C 241;0|6 N N - 14 105130475 105130475 A AAG indel ncRNA_intronic LINC02280 rs148400035 0.102037 0 0 1 0 0 intergenic intergenic ncRNA_intronic TMEM179(dist=59378),MIR4710(dist=13556) TMEM179(dist=59378),MIR4710(dist=13556) ENSG00000260792 Na Na Na Na Na Na Het;+AG 202;21|10 Ref Hom;+AG 907;0|29 N N - 14 105130941 105130941 G A snp ncRNA_intronic LINC02280 rs8007360 0.420927 0 0 1 0 0 intergenic intergenic ncRNA_intronic TMEM179(dist=59844),MIR4710(dist=13090) TMEM179(dist=59844),MIR4710(dist=13090) ENSG00000260792 Na Na Na Na Na Na Het;G>A 179;15|7 Ref Hom;G>A 382;0|11 N N - 14 105131102 105131102 A C snp ncRNA_exonic LINC02280 rs8007138 0.402955 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=60005),MIR4710(dist=12929) TMEM179(dist=60005),MIR4710(dist=12929) ENSG00000260792 Na Na Na Na Na Na Het;A>C 2694;129|118 Ref Hom;A>C 5608;0|199 N N - 14 105131197 105131197 A C snp ncRNA_exonic LINC02280 rs56307141 0.428514 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=60100),MIR4710(dist=12834) TMEM179(dist=60100),MIR4710(dist=12834) ENSG00000260792 Na Na Na Na Na Na Het;A>C 2160;115|97 Ref Hom;A>C 5114;0|184 N N - 14 105131384 105131384 C CACACACAG indel ncRNA_exonic LINC02280 rs751141932 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic TMEM179(dist=60287),MIR4710(dist=12647) TMEM179(dist=60287),MIR4710(dist=12647) ENSG00000260792 Na Na Na Na Na Na Het;+ACACACAG 193;7|6 Ref Hom;+ACACACAG 187;0|5 N N - 14 105344872 105344872 C T snp intronic CEP170B Cep170b ENSG00000099814 centrosomal protein 170B chr14:105331617-105363107 GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP170B https://www.uniprot.org/uniprot/Q9Y4F5 http://www.informatics.jax.org/searchtool/Search.do?query=CEP170B&submit=Quick%0D%2336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170B rs61995998 0.267173 0.3811 0.4094 1 0 0 intronic intronic intronic CEP170B CEP170B ENSG00000099814 Na Na Na Na Na Na Het;C>T 598;32|28 Het;C>T 433;32|25 Hom;C>T 1763;0|66 N N - 14 105393707 105393707 C T snp intronic PLD4 Pld4 ENSG00000166428 phospholipase D family member 4 chr14:105391153-105399574 Arthritis, Rheumatoid A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. Role of phospholipids in phagocytosis GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006909;phagocytosis;IEA|GO:0016042;lipid catabolic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IEA|GO:0045335;phagocytic vesicle;IEA GO:0003824;catalytic activity;IEA|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004630;phospholipase D activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0070290;N-acylphosphatidylethanolamine-specific phospholipase D activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLD4 http://www.informatics.jax.org/searchtool/Search.do?query=PLD4&submit=Quick%0D%11787ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLD4 rs879448 0.266374 0 0 1 0 0 intronic intronic intronic PLD4 PLD4 ENSG00000166428 Na Na Na Na Na Na Het;C>T 134;6|5 Ref Hom;C>T 173;0|6 N N - 14 105398787 105398787 G C snp intronic PLD4 Pld4 ENSG00000166428 phospholipase D family member 4 chr14:105391153-105399574 Arthritis, Rheumatoid A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. Role of phospholipids in phagocytosis GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006909;phagocytosis;IEA|GO:0016042;lipid catabolic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IEA|GO:0045335;phagocytic vesicle;IEA GO:0003824;catalytic activity;IEA|GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004630;phospholipase D activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0070290;N-acylphosphatidylethanolamine-specific phospholipase D activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLD4 http://www.informatics.jax.org/searchtool/Search.do?query=PLD4&submit=Quick%0D%11787ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLD4 rs2582533 0.583466 0 0 1 0 0 intronic intronic intronic PLD4 PLD4 ENSG00000166428 Na Na Na Na Na Na Het;G>C 208;4|8 Ref Hom;G>C 195;0|7 N N - 14 105404384 105404384 T C snp UTR3 *16A>G AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs1048257 0.553514 0.5828 0.5464 1 0 0 UTR3 UTR3 UTR3 AHNAK2(NM_138420:c.*16A>G) AHNAK2(uc021sen.1:c.*16A>G,uc021seo.1:c.*16A>G,uc001ypx.2:c.*16A>G,uc010axc.1:c.*16A>G) ENSG00000185567(ENST00000557457:c.*16A>G,ENST00000333244:c.*16A>G) Na Na Na Na Na Na Het;T>C 592;20|23 Ref Hom;T>C 1176;0|37 N N - 14 105405599 105405599 G C snp nonsynonymous SNV C1183G P395A hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs3742935 0.555112 0.5843 0.5452 0.58 7 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C16189G:p.P5397A, AHNAK2:uc021seo.1:exon3:c.C1183G:p.P395A,AHNAK2:uc021sen.1:exon1:c.C2380G:p.P794A,AHNAK2:uc001ypx.2:exon7:c.C15889G:p.P5297A,AHNAK2:uc010axc.1:exon7:c.C16189G:p.P5397A, UNKNOWN Het;G>C 2014;118|94 Ref Hom;G>C 3661;2|130 N N - 14 105405942 105405942 G A snp synonymous SNV C15846T L5282L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28454709 0.554912 0.5854 0.5455 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.C15846T:p.L5282L, AHNAK2:uc021seo.1:exon3:c.C840T:p.L280L,AHNAK2:uc021sen.1:exon1:c.C2037T:p.L679L,AHNAK2:uc001ypx.2:exon7:c.C15546T:p.L5182L,AHNAK2:uc010axc.1:exon7:c.C15846T:p.L5282L, UNKNOWN Het;G>A 2117;104|85 Ref Hom;G>A 3046;0|108 N N - 14 105406238 105406238 A C snp nonsynonymous SNV T544G Y182D aromatic,polar,hydrophobic polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819419 0.590855 0.6109 0.5535 0.08 1 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T15550G:p.Y5184D, AHNAK2:uc021seo.1:exon3:c.T544G:p.Y182D,AHNAK2:uc021sen.1:exon1:c.T1741G:p.Y581D,AHNAK2:uc001ypx.2:exon7:c.T15250G:p.Y5084D,AHNAK2:uc010axc.1:exon7:c.T15550G:p.Y5184D, UNKNOWN Het;A>C 2896;95|121 Ref Hom;A>C 4608;0|162 N N - 14 105406372 105406372 C T snp nonsynonymous SNV G410A G137E aliphatic,neutral polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs61421370 0.293131 0.4265 0.4138 0.17 2 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G15416A:p.G5139E, AHNAK2:uc021seo.1:exon3:c.G410A:p.G137E,AHNAK2:uc021sen.1:exon1:c.G1607A:p.G536E,AHNAK2:uc001ypx.2:exon7:c.G15116A:p.G5039E,AHNAK2:uc010axc.1:exon7:c.G15416A:p.G5139E, UNKNOWN Het;C>T 2169;59|85 Ref Hom;C>T 3220;1|114 N N - 14 105407031 105407031 A G snp synonymous SNV T14757C S4919S polar,hydrophilic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11623422 0.554912 0.5830 0.5460 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T14757C:p.S4919S, AHNAK2:uc021sen.1:exon1:c.T948C:p.S316S,AHNAK2:uc001ypx.2:exon7:c.T14457C:p.S4819S,AHNAK2:uc010axc.1:exon7:c.T14757C:p.S4919S, UNKNOWN Het;A>G 3507;145|150 Ref Hom;A>G 5730;0|207 N N - 14 105407208 105407208 T C snp synonymous SNV A14580G V4860V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11851053 0.554912 0.5830 0.5483 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.A14580G:p.V4860V, AHNAK2:uc021sen.1:exon1:c.A771G:p.V257V,AHNAK2:uc001ypx.2:exon7:c.A14280G:p.V4760V,AHNAK2:uc010axc.1:exon7:c.A14580G:p.V4860V, UNKNOWN Het;T>C 2694;88|99 Ref Hom;T>C 3655;0|131 N N - 14 105407798 105407798 T C snp nonsynonymous SNV A181G T61A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs4465542 0.555112 0.5832 0.5458 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A13990G:p.T4664A, AHNAK2:uc021sen.1:exon1:c.A181G:p.T61A,AHNAK2:uc001ypx.2:exon7:c.A13690G:p.T4564A,AHNAK2:uc010axc.1:exon7:c.A13990G:p.T4664A, UNKNOWN Het;T>C 1498;78|67 Ref Hom;T>C 3072;0|105 N N - 14 105408030 105408030 A G snp synonymous SNV T13758C D4586D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs9671643 0.555511 0.5849 0.5458 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T13758C:p.D4586D, AHNAK2:uc001ypx.2:exon7:c.T13458C:p.D4486D,AHNAK2:uc010axc.1:exon7:c.T13758C:p.D4586D, UNKNOWN Het;A>G 697;46|33 Ref Hom;A>G 2049;0|71 N N - 14 105408182 105408182 T G snp nonsynonymous SNV A13306C M4436L hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs9672139 0.527556 0.5551 0.5146 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A13606C:p.M4536L, AHNAK2:uc001ypx.2:exon7:c.A13306C:p.M4436L,AHNAK2:uc010axc.1:exon7:c.A13606C:p.M4536L, UNKNOWN Het;T>G 560;16|23 Ref Hom;T>G 977;0|35 N N - 14 105408315 105408315 T C snp synonymous SNV A13473G P4491P hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28600075 0.555511 0.5862 0.5458 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.A13473G:p.P4491P, AHNAK2:uc001ypx.2:exon7:c.A13173G:p.P4391P,AHNAK2:uc010axc.1:exon7:c.A13473G:p.P4491P, UNKNOWN Het;T>C 308;20|13 Ref Hom;T>C 544;0|19 N N - 14 105408811 105408811 A G snp nonsynonymous SNV T12677C L4226P aliphatic,hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819421 0.555112 0.5822 0.5436 0.08 1 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T12977C:p.L4326P, AHNAK2:uc001ypx.2:exon7:c.T12677C:p.L4226P,AHNAK2:uc010axc.1:exon7:c.T12977C:p.L4326P, UNKNOWN Het;A>G 548;12|22 Ref Hom;A>G 1050;0|39 N N - 14 105408827 105408827 A C snp nonsynonymous SNV T12661G L4221V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11850949 0.530751 0.5617 0.5389 0.15 2 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T12961G:p.L4321V, AHNAK2:uc001ypx.2:exon7:c.T12661G:p.L4221V,AHNAK2:uc010axc.1:exon7:c.T12961G:p.L4321V, UNKNOWN Het;A>C 771;11|29 Ref Hom;A>C 1152;0|40 N N - 14 105408955 105408955 A G snp nonsynonymous SNV T12533C V4178A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819422 0.580671 0.6048 0.5518 0.09 1 11 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T12833C:p.V4278A, AHNAK2:uc001ypx.2:exon7:c.T12533C:p.V4178A,AHNAK2:uc010axc.1:exon7:c.T12833C:p.V4278A, UNKNOWN Het;A>G 1206;48|48 Ref Hom;A>G 2740;0|100 N N - 14 105409907 105409907 T C snp nonsynonymous SNV A11581G M3861V hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10141053 0.245807 0.3709 0.3986 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A11881G:p.M3961V, AHNAK2:uc001ypx.2:exon7:c.A11581G:p.M3861V,AHNAK2:uc010axc.1:exon7:c.A11881G:p.M3961V, UNKNOWN Het;T>C 1014;23|43 Ref Hom;T>C 1169;0|45 N N - 14 105409959 105409959 G T snp synonymous SNV C11829A A3943A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10152073 0.554313 0.5852 0.5443 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.C11829A:p.A3943A, AHNAK2:uc001ypx.2:exon7:c.C11529A:p.A3843A,AHNAK2:uc010axc.1:exon7:c.C11829A:p.A3943A, UNKNOWN Het;G>T 1268;29|56 Ref Hom;G>T 1413;0|52 N N - 14 105410183 105410183 T C snp nonsynonymous SNV A11305G M3769V hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10438246 0.555911 0.5881 0.5462 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V, AHNAK2:uc001ypx.2:exon7:c.A11305G:p.M3769V,AHNAK2:uc010axc.1:exon7:c.A11605G:p.M3869V, UNKNOWN Het;T>C 1017;54|47 Ref Hom;T>C 2857;0|106 N N - 14 105410411 105410411 C T snp nonsynonymous SNV G11077A D3693N polar,hydrophilic,charged(-) polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11160825 0.54972 0.5808 0.5304 0.38 5 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G11377A:p.D3793N, AHNAK2:uc001ypx.2:exon7:c.G11077A:p.D3693N,AHNAK2:uc010axc.1:exon7:c.G11377A:p.D3793N, UNKNOWN Het;C>T 654;27|28 Ref Hom;C>T 944;0|35 N N - 14 105410775 105410775 A G snp synonymous SNV T11013C D3671D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819424 0.585863 0.6073 0.5528 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T11013C:p.D3671D, AHNAK2:uc001ypx.2:exon7:c.T10713C:p.D3571D,AHNAK2:uc010axc.1:exon7:c.T11013C:p.D3671D, UNKNOWN Het;A>G 1595;44|62 Ref Hom;A>G 2027;0|71 N N - 14 105410827 105410827 C T snp nonsynonymous SNV G10661A G3554E aliphatic,neutral polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28380382 0.552516 0.5851 0.5448 0.25 3 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G10961A:p.G3654E, AHNAK2:uc001ypx.2:exon7:c.G10661A:p.G3554E,AHNAK2:uc010axc.1:exon7:c.G10961A:p.G3654E, UNKNOWN Het;C>T 1183;43|47 Ref Hom;C>T 1594;0|49 N N - 14 105411153 105411153 G A snp synonymous SNV C10635T P3545P hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs34499888 0.240615 0.3736 0.3869 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.C10635T:p.P3545P, AHNAK2:uc001ypx.2:exon7:c.C10335T:p.P3445P,AHNAK2:uc010axc.1:exon7:c.C10635T:p.P3545P, UNKNOWN Het;G>A 469;32|23 Ref Hom;G>A 1545;0|55 N N - 14 105411700 105411700 A G snp nonsynonymous SNV T9788C V3263A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs4264326 0.563498 0.5963 0.5493 0.15 2 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A, AHNAK2:uc001ypx.2:exon7:c.T9788C:p.V3263A,AHNAK2:uc010axc.1:exon7:c.T10088C:p.V3363A, UNKNOWN Het;A>G 1304;30|53 Ref Hom;A>G 2068;0|75 N N - 14 105411781 105411781 G A snp nonsynonymous SNV C9707T P3236L hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10438247 0.538538 0.5795 0.5416 0.58 7 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C10007T:p.P3336L, AHNAK2:uc001ypx.2:exon7:c.C9707T:p.P3236L,AHNAK2:uc010axc.1:exon7:c.C10007T:p.P3336L, UNKNOWN Het;G>A 657;21|22 Ref Hom;G>A 1462;1|47 N N - 14 105412005 105412005 A G snp synonymous SNV T9783C D3261D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28564728 0.372804 0.2730 0.4486 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T9783C:p.D3261D, AHNAK2:uc001ypx.2:exon7:c.T9483C:p.D3161D,AHNAK2:uc010axc.1:exon7:c.T9783C:p.D3261D, UNKNOWN Het;A>G 146;40|7 Ref Hom;A>G 107;0|3 N N - 14 105412009 105412009 A G snp nonsynonymous SNV T9479C M3160T hydrophobic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28714612 0.385184 0 0.4547 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T9779C:p.M3260T, AHNAK2:uc001ypx.2:exon7:c.T9479C:p.M3160T,AHNAK2:uc010axc.1:exon7:c.T9779C:p.M3260T, UNKNOWN Het;A>G 149;37|7 Ref Hom;A>G 107;0|3 N N - 14 105412541 105412541 C T snp nonsynonymous SNV G8947A V2983I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs12433837 0.51857 0.2635 0.4508 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G9247A:p.V3083I, AHNAK2:uc001ypx.2:exon7:c.G8947A:p.V2983I,AHNAK2:uc010axc.1:exon7:c.G9247A:p.V3083I, UNKNOWN Het;C>T 555;30|17 Ref Hom;C>T 1313;0|29 N N - 14 105412542 105412542 A G snp synonymous SNV T9246C D3082D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs12433815 0.517572 0.2606 0.4487 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T9246C:p.D3082D, AHNAK2:uc001ypx.2:exon7:c.T8946C:p.D2982D,AHNAK2:uc010axc.1:exon7:c.T9246C:p.D3082D, UNKNOWN Het;A>G 555;29|15 Ref Hom;A>G 1313;0|28 N N - 14 105412554 105412554 T G snp synonymous SNV A9234C G3078G aliphatic,neutral aliphatic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs12436986 0.514976 0.2904 0.4803 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.A9234C:p.G3078G, AHNAK2:uc001ypx.2:exon7:c.A8934C:p.G2978G,AHNAK2:uc010axc.1:exon7:c.A9234C:p.G3078G, UNKNOWN Het;T>G 416;26|10 Ref Hom;T>G 1180;0|26 N N - 14 105412561 105412561 C T snp nonsynonymous SNV G8927A R2976H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs3000771 0 0 0.4952 0.17 2 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G9227A:p.R3076H, AHNAK2:uc001ypx.2:exon7:c.G8927A:p.R2976H,AHNAK2:uc010axc.1:exon7:c.G9227A:p.R3076H, UNKNOWN Het;C>T 407;22|14 Ref Hom;C>T 1250;0|26 N N - 14 105413204 105413204 G T snp nonsynonymous SNV C8284A R2762S polar,hydrophilic,charged(+) polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2582514 0.567093 0.5945 0.5477 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C8584A:p.R2862S, AHNAK2:uc001ypx.2:exon7:c.C8284A:p.R2762S,AHNAK2:uc010axc.1:exon7:c.C8584A:p.R2862S, UNKNOWN Het;G>T 2116;79|61 Ref Hom;G>T 3439;2|82 N N - 14 105413223 105413223 A G snp synonymous SNV T8565C D2855D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs55797226 0.527157 0.5543 0.5379 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T8565C:p.D2855D, AHNAK2:uc001ypx.2:exon7:c.T8265C:p.D2755D,AHNAK2:uc010axc.1:exon7:c.T8565C:p.D2855D, UNKNOWN Het;A>G 2008;73|56 Ref Hom;A>G 3647;2|88 N N - 14 105413790 105413790 G A snp synonymous SNV C7998T S2666S polar,hydrophilic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11848564 0.350439 0.4829 0.4258 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.C7998T:p.S2666S, AHNAK2:uc001ypx.2:exon7:c.C7698T:p.S2566S,AHNAK2:uc010axc.1:exon7:c.C7998T:p.S2666S, UNKNOWN Het;G>A 2075;106|91 Ref Hom;G>A 4830;2|177 N N - 14 105414238 105414238 C A snp nonsynonymous SNV G7250T G2417V aliphatic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs60754080 0.480232 0.5507 0.5029 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G7550T:p.G2517V, AHNAK2:uc001ypx.2:exon7:c.G7250T:p.G2417V,AHNAK2:uc010axc.1:exon7:c.G7550T:p.G2517V, UNKNOWN Het;C>A 919;37|26 Ref Hom;C>A 1528;0|32 N N - 14 105414252 105414252 C T snp synonymous SNV G7536A K2512K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs60106058 0.454872 0.5284 0.4944 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.G7536A:p.K2512K, AHNAK2:uc001ypx.2:exon7:c.G7236A:p.K2412K,AHNAK2:uc010axc.1:exon7:c.G7536A:p.K2512K, UNKNOWN Het;C>T 917;40|26 Ref Hom;C>T 1849;0|45 N N - 14 105414280 105414280 T G snp nonsynonymous SNV A7208C E2403A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819429 0.843251 0.8964 0.8428 0.17 2 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A7508C:p.E2503A, AHNAK2:uc001ypx.2:exon7:c.A7208C:p.E2403A,AHNAK2:uc010axc.1:exon7:c.A7508C:p.E2503A, UNKNOWN Het;T>G 857;50|37 Het;T>G 791;28|34 Hom;T>G 2025;0|68 N N - 14 105414629 105414629 G A snp nonsynonymous SNV C6859T P2287S hydrophobic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs72702027 0.531949 0.5632 0.5415 0.58 7 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C7159T:p.P2387S, AHNAK2:uc001ypx.2:exon7:c.C6859T:p.P2287S,AHNAK2:uc010axc.1:exon7:c.C7159T:p.P2387S, UNKNOWN Het;G>A 451;22|19 Ref Hom;G>A 1079;0|38 N N - 14 105414790 105414790 A G snp nonsynonymous SNV T6698C L2233P aliphatic,hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2582513 0.563099 0.5847 0.5512 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T6998C:p.L2333P, AHNAK2:uc001ypx.2:exon7:c.T6698C:p.L2233P,AHNAK2:uc010axc.1:exon7:c.T6998C:p.L2333P, UNKNOWN Het;A>G 885;26|31 Ref Hom;A>G 1100;0|34 N N - 14 105414810 105414810 C G snp synonymous SNV G6978C L2326L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10145032 0.532348 0.5610 0.5435 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.G6978C:p.L2326L, AHNAK2:uc001ypx.2:exon7:c.G6678C:p.L2226L,AHNAK2:uc010axc.1:exon7:c.G6978C:p.L2326L, UNKNOWN Het;C>G 879;35|34 Ref Hom;C>G 1166;0|39 N N - 14 105415200 105415200 G C snp synonymous SNV C6588G L2196L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10145566 0.289936 0.3713 0.4018 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.C6588G:p.L2196L, AHNAK2:uc001ypx.2:exon7:c.C6288G:p.L2096L,AHNAK2:uc010axc.1:exon7:c.C6588G:p.L2196L, UNKNOWN Het;G>C 423;30|18 Ref Hom;G>C 837;0|27 N N - 14 105415229 105415229 T C snp nonsynonymous SNV A6259G M2087V hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10134675 0.282348 0 0.4070 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A6559G:p.M2187V, AHNAK2:uc001ypx.2:exon7:c.A6259G:p.M2087V,AHNAK2:uc010axc.1:exon7:c.A6559G:p.M2187V, UNKNOWN Het;T>C 252;31|12 Ref Hom;T>C 496;0|15 N N - 14 105415745 105415745 C G snp nonsynonymous SNV G5743C A1915P aliphatic,hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs117379881 0.277157 0.4201 0.4482 0.33 4 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G6043C:p.A2015P, AHNAK2:uc001ypx.2:exon7:c.G5743C:p.A1915P,AHNAK2:uc010axc.1:exon7:c.G6043C:p.A2015P, UNKNOWN Het;C>G 1220;51|34 Ref Hom;C>G 2470;0|56 N N - 14 105415748 105415748 G A snp nonsynonymous SNV C5740T P1914S hydrophobic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs118171013 0.300319 0.4410 0.4598 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C6040T:p.P2014S, AHNAK2:uc001ypx.2:exon7:c.C5740T:p.P1914S,AHNAK2:uc010axc.1:exon7:c.C6040T:p.P2014S, UNKNOWN Het;G>A 1220;50|34 Ref Hom;G>A 2470;0|56 N N - 14 105416010 105416010 T C snp synonymous SNV A5778G T1926T polar,hydrophilic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2582511 0.583466 0.6425 0.5890 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.A5778G:p.T1926T, AHNAK2:uc001ypx.2:exon7:c.A5478G:p.T1826T,AHNAK2:uc010axc.1:exon7:c.A5778G:p.T1926T, UNKNOWN Het;T>C 1089;30|43 Ref Hom;T>C 1775;0|63 N N - 14 105418194 105418194 A G snp synonymous SNV T3594C S1198S polar,hydrophilic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs78447535 0.252396 0 0.4044 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T3594C:p.S1198S, AHNAK2:uc001ypx.2:exon7:c.T3294C:p.S1098S,AHNAK2:uc010axc.1:exon7:c.T3594C:p.S1198S, UNKNOWN Het;A>G 247;24|13 Ref Hom;A>G 236;0|10 N N - 14 105418260 105418260 T A snp synonymous SNV A3528T S1176S polar,hydrophilic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs56330864 0.00778754 0.4192 0.4729 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.A3528T:p.S1176S, AHNAK2:uc001ypx.2:exon7:c.A3228T:p.S1076S,AHNAK2:uc010axc.1:exon7:c.A3528T:p.S1176S, UNKNOWN Het;T>A 721;30|20 Ref Hom;T>A 1236;0|28 N N - 14 105418264 105418264 G A snp nonsynonymous SNV C3224T A1075V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs55650155 0.382987 0.4288 0.4796 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C3524T:p.A1175V, AHNAK2:uc001ypx.2:exon7:c.C3224T:p.A1075V,AHNAK2:uc010axc.1:exon7:c.C3524T:p.A1175V, UNKNOWN Het;G>A 721;30|20 Ref Hom;G>A 1281;0|28 N N - 14 105418344 105418344 T G snp nonsynonymous SNV A3144C E1048D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs55791176 0.00179712 0.4899 0.5064 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A3444C:p.E1148D, AHNAK2:uc001ypx.2:exon7:c.A3144C:p.E1048D,AHNAK2:uc010axc.1:exon7:c.A3444C:p.E1148D, UNKNOWN Het;T>G 685;39|33 Ref Hom;T>G 2484;0|92 N N - 14 105418391 105418391 C T snp nonsynonymous SNV G3097A V1033I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11625007 0 0.4859 0.4752 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G3397A:p.V1133I, AHNAK2:uc001ypx.2:exon7:c.G3097A:p.V1033I,AHNAK2:uc010axc.1:exon7:c.G3397A:p.V1133I, UNKNOWN Het;C>T 883;36|40 Ref Hom;C>T 2409;0|95 N N - 14 105420927 105420927 A G snp synonymous SNV T861C P287P hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs879210 0.314696 0.4252 0.4083 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.T861C:p.P287P, AHNAK2:uc001ypx.2:exon7:c.T561C:p.P187P,AHNAK2:uc010axc.1:exon7:c.T861C:p.P287P, UNKNOWN Het;A>G 2321;95|100 Ref Hom;A>G 5315;4|194 N N - 14 105421050 105421050 T G snp synonymous SNV A738C P246P hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs879209 0.309704 0.4183 0.4050 1 0 0 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 synonymous SNV synonymous SNV unknown AHNAK2:NM_138420:exon7:c.A738C:p.P246P, AHNAK2:uc001ypx.2:exon7:c.A438C:p.P146P,AHNAK2:uc010axc.1:exon7:c.A738C:p.P246P, UNKNOWN Het;T>G 1071;75|52 Ref Hom;T>G 2600;0|92 N N - 14 105421236 105421253 CAGCCAGCAGGGTAGTGA C indel intronic AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs374088705 0.305511 0 0 1 0 0 intronic intronic intronic AHNAK2 AHNAK2 ENSG00000185567 Na Na Na Na Na Na Het;-AGCCAGCAGGGTAGTGA 582;18|16 Ref Hom;-AGCCAGCAGGGTAGTGA 413;0|10 N N - 14 105423227 105423227 A G snp intronic AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11621410 0.375799 0 0 1 0 0 intronic intronic intronic AHNAK2 AHNAK2 ENSG00000185567 Na Na Na Na Na Na Het;A>G 185;4|6 Het;A>G 74;3|3 Hom;A>G 239;0|7 N N - 14 105478102 105478102 G A snp synonymous SNV C165T N55N polar,hydrophilic,neutral polar,hydrophilic,neutral CDCA4 Cdca4 ENSG00000170779 cell division cycle associated 4 chr14:105475910-105487485 This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014] GO:0051301;cell division;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDCA4 https://www.ncbi.nlm.nih.gov/omim/?term=612270 http://www.informatics.jax.org/searchtool/Search.do?query=CDCA4&submit=Quick%0D%12772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCA4 rs3803294 0.41893 0.5374 0.5848 1 0 0 exonic exonic exonic CDCA4 CDCA4 ENSG00000170779 synonymous SNV synonymous SNV unknown CDCA4:NM_145701:exon2:c.C165T:p.N55N,CDCA4:NM_017955:exon2:c.C165T:p.N55N, CDCA4:uc001yqb.2:exon2:c.C165T:p.N55N,CDCA4:uc001yqa.2:exon2:c.C165T:p.N55N,CDCA4:uc021sep.1:exon1:c.C165T:p.N55N, UNKNOWN Het;G>A 2733;118|126 Het;G>A 2280;99|114 Hom;G>A 6364;1|232 N N - 14 105523663 105523663 G A snp UTR5 -1906C>T GPR132 Gpr132 ENSG00000183484 G protein-coupled receptor 132 chr14:105515728-105531782 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] atherosclerosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus Mice homozygous for disruptions in this gene display a generally normal phenotype but eventually develop a "late onset lymphoproliferative autoimmune syndrome" G alpha (q) signalling events GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR132 https://www.ncbi.nlm.nih.gov/omim/?term=606167 http://www.informatics.jax.org/searchtool/Search.do?query=GPR132&submit=Quick%0D%14998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR132 rs7147439 0.576677 0 0 1 0 0 intronic intronic UTR5 GPR132 GPR132 ENSG00000183484(ENST00000549990:c.-1906C>T) Na Na Na Na Na Na Het;G>A 285;3|9 Ref Hom;G>A 200;0|6 N N - 14 105538994 105538994 G A snp intergenic GPR132 Gpr132 ENSG00000183484 G protein-coupled receptor 132 chr14:105515728-105531782 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] atherosclerosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus Mice homozygous for disruptions in this gene display a generally normal phenotype but eventually develop a "late onset lymphoproliferative autoimmune syndrome" G alpha (q) signalling events GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR132 https://www.ncbi.nlm.nih.gov/omim/?term=606167 http://www.informatics.jax.org/searchtool/Search.do?query=GPR132&submit=Quick%0D%14998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR132 rs28664663 0.418331 0 0 1 0 0 intergenic intergenic intergenic GPR132(dist=7107),LOC102723354(dist=21490) GPR132(dist=7240),JAG2(dist=68324) ENSG00000183484(dist=7212),ENSG00000257556(dist=20952) Na Na Na Na Na Na Het;G>A 46;2|3 Ref Hom;G>A 71;0|4 N N - 14 105560437 105560437 C T snp upstream LOC102723354 rs56069762 0.435903 0 0 1 0 0 upstream intergenic ncRNA_intronic LOC102723354 GPR132(dist=28683),JAG2(dist=46881) ENSG00000257556 Na Na Na Na Na Na Het;C>T 642;28|34 Ref Hom;C>T 1212;0|44 N N - 14 105560678 105560678 A G snp ncRNA_intronic LOC102723354 rs4377097 0.435703 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102723354 GPR132(dist=28924),JAG2(dist=46640) ENSG00000257556 Na Na Na Na Na Na Het;A>G 233;3|7 Ref Hom;A>G 387;0|10 N N - 14 105564734 105564734 G A snp ncRNA_intronic LOC102723354 rs7160811 0.409944 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102723354 GPR132(dist=32980),JAG2(dist=42584) ENSG00000257556 Na Na Na Na Na Na Het;G>A 379;18|17 Ref Hom;G>A 871;0|32 N N - 14 105565040 105565040 T TTC indel ncRNA_intronic LOC102723354 rs10686748 0.408147 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102723354 GPR132(dist=33286),JAG2(dist=42278) ENSG00000257556 Na Na Na Na Na Na Het;+TC 101;7|4 Ref Hom;+TC 671;0|17 N N - 14 105565542 105565542 T G snp downstream LINC02298 rs4983580 0.953674 0 0 1 0 0 ncRNA_intronic intergenic downstream LOC102723354 GPR132(dist=33788),JAG2(dist=41776) ENSG00000257556 Na Na Na Na Na Na Het;T>G 1275;31|55 Het;T>G 599;34|31 Hom;T>G 1822;0|72 N N - 14 105565770 105565770 C T snp ncRNA_exonic LOC102723354 rs11621606 0.432308 0 0 1 0 0 ncRNA_exonic intergenic downstream LOC102723354 GPR132(dist=34016),JAG2(dist=41548) ENSG00000257556 Na Na Na Na Na Na Het;C>T 192;6|9 Ref Hom;C>T 273;0|11 N N - 14 105607979 105607979 C T snp UTR3 *1053G>A JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs741859 0.790335 0 0 1 0 0 UTR3 UTR3 UTR3 JAG2(NM_145159:c.*1053G>A,NM_002226:c.*1053G>A) JAG2(uc001yqf.4:c.*1053G>A,uc001yqg.4:c.*1053G>A,uc001yqh.4:c.*1053G>A) ENSG00000184916(ENST00000331782:c.*1053G>A,ENST00000347004:c.*1053G>A) Na Na Na Na Na Na Het;C>T 165;2|8 Ref Hom;C>T 385;0|15 N N - 14 105609335 105609335 A G snp synonymous SNV T3300C I1100I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs10149229 0.689896 0.7339 0.6666 1 0 0 exonic exonic exonic JAG2 JAG2 ENSG00000184916 synonymous SNV synonymous SNV unknown JAG2:NM_145159:exon25:c.T3300C:p.I1100I,JAG2:NM_002226:exon26:c.T3414C:p.I1138I, JAG2:uc001yqf.4:exon18:c.T1626C:p.I542I,JAG2:uc001yqh.4:exon25:c.T3300C:p.I1100I,JAG2:uc001yqg.4:exon26:c.T3414C:p.I1138I, UNKNOWN Het;A>G 3342;177|148 Het;A>G 2663;127|126 Hom;A>G 7971;0|296 N N - 14 105611282 105611282 A G snp synonymous SNV T2955C A985A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs2272591 0.676717 0.7183 0.6664 1 0 0 exonic exonic exonic JAG2 JAG2 ENSG00000184916 synonymous SNV synonymous SNV unknown JAG2:NM_145159:exon23:c.T2955C:p.A985A,JAG2:NM_002226:exon24:c.T3069C:p.A1023A, JAG2:uc001yqf.4:exon16:c.T1281C:p.A427A,JAG2:uc001yqh.4:exon23:c.T2955C:p.A985A,JAG2:uc001yqg.4:exon24:c.T3069C:p.A1023A, UNKNOWN Het;A>G 849;35|39 Het;A>G 982;40|44 Hom;A>G 2537;0|91 N N - 14 105614032 105614032 C G snp intronic JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs2242636 0.657348 0 0 1 0 0 intronic intronic intronic JAG2 JAG2 ENSG00000184916 Na Na Na Na Na Na Het;C>G 551;22|20 Het;C>G 322;14|14 Hom;C>G 995;0|31 N N - 14 105614974 105614974 T C snp intronic JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs2242635 0.659145 0 0 1 0 0 intronic intronic intronic JAG2 JAG2 ENSG00000184916 Na Na Na Na Na Na Het;T>C 327;12|12 Het;T>C 160;8|6 Hom;T>C 397;0|13 N N - 14 105615026 105615026 A G snp intronic JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs2242634 0.659744 0 0 1 0 0 intronic intronic intronic JAG2 JAG2 ENSG00000184916 Na Na Na Na Na Na Het;A>G 864;20|33 Het;A>G 632;16|26 Hom;A>G 1240;0|45 N N - 14 105617042 105617042 C T snp nonsynonymous SNV G1387A E463K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs1057744 0.520168 0.6117 0.5355 0.23 3 13 exonic exonic exonic JAG2 JAG2 ENSG00000184916 nonsynonymous SNV nonsynonymous SNV unknown JAG2:NM_145159:exon11:c.G1387A:p.E463K,JAG2:NM_002226:exon12:c.G1501A:p.E501K, JAG2:uc001yqh.4:exon11:c.G1387A:p.E463K,JAG2:uc001yqg.4:exon12:c.G1501A:p.E501K, UNKNOWN Het;C>T 1694;100|80 Het;C>T 1183;56|54 Hom;C>T 3450;0|121 N N - 14 105617550 105617550 C CGCAGCCCCA indel intronic JAG2 Jag2 ENSG00000184916 jagged 2 chr14:105607318-105635161 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Stroke; Cleft Lip|Cleft Palate; Cleft Lip|Cleft Palate|Ectodermal Dysplasia|Syndrome; cleft lip with cleft palate; cleft lip without cleft palate; schizophrenia Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. NOTCH2 Activation and Transmission of Signal to the Nucleus GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA|GO:0001501;skeletal system development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003016;respiratory system process;IEA|GO:0007049;cell cycle;NAS|GO:0007154;cell communication;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEP|GO:0009912;auditory receptor cell fate commitment;ISS|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0030154;cell differentiation;IDA|GO:0030155;regulation of cell adhesion;IEA|GO:0030217;T cell differentiation;IDA|GO:0030334;regulation of cell migration;NAS|GO:0042127;regulation of cell proliferation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042492;gamma-delta T cell differentiation;IEA|GO:0045061;thymic T cell selection;IDA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:1990134;epithelial cell apoptotic process involved in palatal shelf morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JAG2 https://www.uniprot.org/uniprot/Q9Y219 https://www.ncbi.nlm.nih.gov/omim/?term=602570 http://www.informatics.jax.org/searchtool/Search.do?query=JAG2&submit=Quick%0D%234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JAG2 rs11283160 0.457268 0 0 1 0 0 intronic intronic intronic JAG2 JAG2 ENSG00000184916 Na Na Na Na Na Na Het;+GCAGCCCCA 156;18|5 Het;+GCAGCCCCA 420;13|13 Hom;+GCAGCCCCA 1057;0|22 N N - 14 105618670 105618670 T C snp ncRNA_intronic AL512356.1 rs2238287 0.689297 0.7243 0.6705 1 0 0 intronic intronic ncRNA_intronic JAG2 JAG2 ENSG00000257622 Na Na Na Na Na Na Het;T>C 465;29|21 Het;T>C 303;14|14 Hom;T>C 1077;0|35 N N - 14 105622056 105622056 A G snp ncRNA_intronic AL512356.1 rs2816679 0.974042 0.9542 0.9565 1 0 0 intronic intronic ncRNA_intronic JAG2 JAG2 ENSG00000257622 Na Na Na Na Na Na Het;A>G 1543;56|60 Het;A>G 969;50|43 Hom;A>G 2977;1|103 N N - 14 105642138 105642138 C T snp ncRNA_intronic AL512356.1 rs880616 0.614217 0 0 1 0 0 intronic intronic ncRNA_intronic NUDT14 NUDT14 ENSG00000257622 Na Na Na Na Na Na Het;C>T 74;5|4 Ref Hom;C>T 127;0|4 N N - 14 105644151 105644151 T C snp ncRNA_intronic AL512356.1 rs1882848 0.641573 0.6789 0 1 0 0 intronic intronic ncRNA_intronic NUDT14 NUDT14 ENSG00000257622 Na Na Na Na Na Na Het;T>C 789;25|33 Het;T>C 116;20|7 Hom;T>C 612;0|18 N N - 14 105647562 105647580 GGCGGGGGCCGCGAGCTCT G indel UTR5 -16_-34delinsC NUDT14 Nudt14 ENSG00000183828 nudix hydrolase 14 chr14:105639275-105647660 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Synthesis of dolichyl-phosphate-glucose GO:0018279;protein N-linked glycosylation via asparagine;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008768;UDP-sugar diphosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUDT14 https://www.ncbi.nlm.nih.gov/omim/?term=609219 http://www.informatics.jax.org/searchtool/Search.do?query=NUDT14&submit=Quick%0D%15089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT14 rs61267479 0.468051 0 0.4743 1 0 0 UTR5 UTR5 UTR5 NUDT14(NM_177533:c.-16_-34delinsC) NUDT14(uc010tyn.3:c.-16_-34delinsC) ENSG00000183828(ENST00000392568:c.-16_-34delinsC,ENST00000546553:c.-16_-34delinsC) Na Na Na Na Na Na Het;-GCGGGGGCCGCGAGCTCT 244;5|7 Het;-GCGGGGGCCGCGAGCTCT 539;4|14 Hom;-GCGGGGGCCGCGAGCTCT 756;0|18 N N - 14 105916797 105916797 G A snp intronic MTA1 Mta1 ENSG00000182979 metastasis associated 1 chr14:105886159-105937066 This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] breast cancer; breast cancer cell proliferation using antisense phosphorothioate oligonucleotides; Macular Degeneration Mice homozygous for a knock-out allele exhibit increased cellular sensitivity to ionizing radiation and increased retinal cell proliferation at E14.5. Regulation of PTEN gene transcription GO:0006302;double-strand break repair;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0010212;response to ionizing radiation;IDA|GO:0016575;histone deacetylation;IEA|GO:0016925;protein sumoylation;TAS|GO:0032496;response to lipopolysaccharide;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0045475;locomotor rhythm;ISS|GO:0048511;rhythmic process;IEA|GO:0050727;regulation of inflammatory response;ISS|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006302;double-strand break repair;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0010212;response to ionizing radiation;IDA|GO:0016575;histone deacetylation;IEA|GO:0016925;protein sumoylation;TAS|GO:0032496;response to lipopolysaccharide;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0045475;locomotor rhythm;ISS|GO:0048511;rhythmic process;IEA|GO:0050727;regulation of inflammatory response;ISS|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0001047;core promoter binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;IMP|GO:0003714;transcription corepressor activity;IMP|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTA1 https://www.uniprot.org/uniprot/Q13330 https://www.ncbi.nlm.nih.gov/omim/?term=603526 http://www.informatics.jax.org/searchtool/Search.do?query=MTA1&submit=Quick%0D%232ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTA1 rs4983411 0.645168 0 0 1 0 0 intronic intronic intronic MTA1 MTA1 ENSG00000182979 Na Na Na Na Na Na Het;G>A 127;4|5 Het;G>A 85;1|3 Hom;G>A 181;0|5 N N - 14 106348477 106348477 A C snp ncRNA_exonic abParts rs2516980 0.755192 0 0 1 0 0 intergenic ncRNA_exonic intergenic MIR4539(dist=21893),KIAA0125(dist=35361) abParts ENSG00000225825(dist=1063),ENSG00000211909(dist=1284) Na Na Na Na Na Na Het;A>C 83;3|4 Het;A>C 36;4|2 Hom;A>C 113;0|5 N N - 14 106354804 106354804 G C snp upstream IGHD2-21 ENSG00000281984 chr14:106354409-106354436 http://www.genecards.org/index.php?path=/Search/keyword/IGHD2-21 http://www.informatics.jax.org/searchtool/Search.do?query=IGHD2-21&submit=Quick%0D%22369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHD2-21 rs2753525 0 0 0 1 0 0 intergenic ncRNA_intronic upstream MIR4539(dist=28220),KIAA0125(dist=29034) abParts ENSG00000211912 Na Na Na Na Na Na Het;G>C 1188;58|57 Het;G>C 1180;63|58 Hom;G>C 2410;0|90 N N - 14 106354876 106354876 C A snp upstream IGHD2-21 ENSG00000281984 chr14:106354409-106354436 http://www.genecards.org/index.php?path=/Search/keyword/IGHD2-21 http://www.informatics.jax.org/searchtool/Search.do?query=IGHD2-21&submit=Quick%0D%22369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGHD2-21 rs2753526 0.448482 0 0 1 0 0 intergenic ncRNA_intronic upstream MIR4539(dist=28292),KIAA0125(dist=28962) abParts ENSG00000211912 Na Na Na Na Na Na Het;C>A 1106;46|53 Het;C>A 853;44|42 Hom;C>A 2038;0|78 N N - 14 106857429 106857429 T C snp ncRNA_intronic abParts rs75938346 0 0 0 1 0 0 intergenic ncRNA_intronic intergenic LINC00226(dist=112463),LINC00221(dist=81016) abParts ENSG00000253359(dist=4403),ENSG00000211958(dist=8977) Na Na Na Na Na Na Het;T>C 80;26|7 Het;T>C 153;24|10 Hom;T>C 868;0|30 N N - 14 106857471 106857471 G C snp ncRNA_intronic abParts rs74766811 0 0 0 1 0 0 intergenic ncRNA_intronic intergenic LINC00226(dist=112505),LINC00221(dist=80974) abParts ENSG00000253359(dist=4445),ENSG00000211958(dist=8935) Na Na Na Na Na Na Het;G>C 345;46|22 Het;G>C 217;37|15 Hom;G>C 1348;0|53 N N - 14 106917052 106917052 A C snp upstream HOMER2P1 rs61999235 0.126198 0 0 1 0 0 intergenic ncRNA_intronic upstream LINC00226(dist=172086),LINC00221(dist=21393) abParts ENSG00000228966 Na Na Na Na Na Na Het;A>C 48;2|3 Ref Hom;A>C 106;0|4 N N - 14 19327799 19327801 CGT C indel intergenic NONE rs376276814 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),OR11H12(dist=49793) NONE(dist=NONE),OR11H12(dist=49793) ENSG00000238442(dist=73869),ENSG00000257959(dist=4353) Na Na Na Na Na Na Het;-GT 796;3|26 Het;-GT 376;3|11 Hom;-GT 188;0|5 N N - 14 19413103 19413103 C T snp ncRNA_exonic CR383656.2 rs192101281 0.00179712 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC642426(dist=2992),POTEG(dist=140262) LOC642426(dist=2992),POTEG(dist=140262) ENSG00000257175 Na Na Na Na Na Na Het;C>T 1143;72|54 Ref Hom;C>T 1709;2|65 N N - 14 19719844 19719844 G A snp ncRNA_exonic ENSG00000257573 rs28594831 0 0 0 1 0 0 intergenic downstream ncRNA_exonic DUXAP10(dist=26928),LINC01296(dist=160365) BC016035 ENSG00000257573 Na Na Na Na Na Na Het;G>A 56;1|4 Ref Hom;G>A 120;0|6 N N - 14 20136650 20136650 G T snp ncRNA_intronic AL512310.4 rs7155481 0.314896 0 0 1 0 0 intergenic intergenic ncRNA_intronic POTEM(dist=116378),OR11H2(dist=44413) POTEM(dist=116378),OR11H2(dist=44413) ENSG00000257493,ENSG00000258027 Na Na Na Na Na Na Het;G>T 41;4|3 Ref Hom;G>T 120;0|6 N N - 14 20229929 20229929 G A snp ncRNA_intronic AL512310.9 rs8011638 0.222444 0 0 1 0 0 intergenic intergenic ncRNA_intronic OR4Q3(dist=13401),OR4M1(dist=18553) OR4Q3(dist=13401),OR4M1(dist=18553) ENSG00000258438 Na Na Na Na Na Na Het;G>A 59;7|3 Het;G>A 48;10|3 Hom;G>A 322;0|11 N N - 14 20428832 20428832 G C snp intergenic OR4K1 Olfr728 ENSG00000155249 olfactory receptor family 4 subfamily K member 1 chr14:20403767-20404842 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4K1 https://www.uniprot.org/uniprot/Q8NGD4 http://www.informatics.jax.org/searchtool/Search.do?query=OR4K1&submit=Quick%0D%9849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4K1 rs28721413 0.559505 0 0 1 0 0 intergenic intergenic intergenic OR4K1(dist=23990),OR4K15(dist=14846) OR4K1(dist=23990),OR4K15(dist=14846) ENSG00000258822(dist=3105),ENSG00000169488(dist=14771) Na Na Na Na Na Na Het;G>C 200;22|7 Ref Hom;G>C 503;0|15 N N - 14 20428854 20428854 T A snp intergenic OR4K1 Olfr728 ENSG00000155249 olfactory receptor family 4 subfamily K member 1 chr14:20403767-20404842 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4K1 https://www.uniprot.org/uniprot/Q8NGD4 http://www.informatics.jax.org/searchtool/Search.do?query=OR4K1&submit=Quick%0D%9849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4K1 rs28535878 0.559505 0 0 1 0 0 intergenic intergenic intergenic OR4K1(dist=24012),OR4K15(dist=14824) OR4K1(dist=24012),OR4K15(dist=14824) ENSG00000258822(dist=3127),ENSG00000169488(dist=14749) Na Na Na Na Na Na Het;T>A 206;20|7 Ref Hom;T>A 337;0|9 N N - 14 20432491 20432491 T TAA indel intergenic OR4K1 Olfr728 ENSG00000155249 olfactory receptor family 4 subfamily K member 1 chr14:20403767-20404842 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4K1 https://www.uniprot.org/uniprot/Q8NGD4 http://www.informatics.jax.org/searchtool/Search.do?query=OR4K1&submit=Quick%0D%9849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4K1 rs150180625 0 0 0 1 0 0 intergenic intergenic intergenic OR4K1(dist=27649),OR4K15(dist=11187) OR4K1(dist=27649),OR4K15(dist=11187) ENSG00000258822(dist=6764),ENSG00000169488(dist=11112) Na Na Na Na Na Na Het;+AA 119;4|3 Ref Hom;+AA 413;0|10 N N - 14 20432503 20432504 TA T indel intergenic OR4K1 Olfr728 ENSG00000155249 olfactory receptor family 4 subfamily K member 1 chr14:20403767-20404842 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4K1 https://www.uniprot.org/uniprot/Q8NGD4 http://www.informatics.jax.org/searchtool/Search.do?query=OR4K1&submit=Quick%0D%9849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4K1 rs374755409 0.559505 0 0 1 0 0 intergenic intergenic intergenic OR4K1(dist=27661),OR4K15(dist=11174) OR4K1(dist=27661),OR4K15(dist=11174) ENSG00000258822(dist=6776),ENSG00000169488(dist=11099) Na Na Na Na Na Na Het;-A 196;4|7 Ref Hom;-A 413;0|10 N N - 14 20528207 20528207 G A snp nonsynonymous SNV G4A D2N polar,hydrophilic,charged(-) polar,hydrophilic,neutral OR4L1 Olfr724 ENSG00000176246 olfactory receptor family 4 subfamily L member 1 chr14:20528204-20529142 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4L1 http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1 rs1958715 0.536741 0.4309 0.4584 0.08 1 13 exonic exonic exonic OR4L1 OR4L1 ENSG00000176246 nonsynonymous SNV nonsynonymous SNV unknown OR4L1:NM_001004717:exon1:c.G4A:p.D2N, OR4L1:uc001vwn.1:exon1:c.G4A:p.D2N, UNKNOWN Het;G>A 662;24|30 Het;G>A 884;62|44 Hom;G>A 2953;1|110 N N - 14 20528321 20528321 A G snp nonsynonymous SNV A118G M40V hydrophobic,neutral aliphatic,hydrophobic,neutral OR4L1 Olfr724 ENSG00000176246 olfactory receptor family 4 subfamily L member 1 chr14:20528204-20529142 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4L1 http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1 rs1958716 0.536741 0.4320 0.4708 0.08 1 13 exonic exonic exonic OR4L1 OR4L1 ENSG00000176246 nonsynonymous SNV nonsynonymous SNV unknown OR4L1:NM_001004717:exon1:c.A118G:p.M40V, OR4L1:uc001vwn.1:exon1:c.A118G:p.M40V, UNKNOWN Het;A>G 666;46|30 Het;A>G 1711;97|79 Hom;A>G 4475;0|165 N N - 14 20528362 20528362 A G snp synonymous SNV A159G S53S polar,hydrophilic,neutral polar,hydrophilic,neutral OR4L1 Olfr724 ENSG00000176246 olfactory receptor family 4 subfamily L member 1 chr14:20528204-20529142 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4L1 http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1 rs1958717 0.538538 0.4370 0.4708 1 0 0 exonic exonic exonic OR4L1 OR4L1 ENSG00000176246 synonymous SNV synonymous SNV unknown OR4L1:NM_001004717:exon1:c.A159G:p.S53S, OR4L1:uc001vwn.1:exon1:c.A159G:p.S53S, UNKNOWN Het;A>G 779;57|33 Het;A>G 1425;105|73 Hom;A>G 6745;0|156 N N - 14 20528448 20528467 TCATAGATTTGCTCACTGAC T indel frameshift substitution 245_264T OR4L1 Olfr724 ENSG00000176246 olfactory receptor family 4 subfamily L member 1 chr14:20528204-20529142 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4L1 http://www.informatics.jax.org/searchtool/Search.do?query=OR4L1&submit=Quick%0D%13829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4L1 rs112192573 0.532149 0 0.4485 1 0 0 exonic exonic exonic OR4L1 OR4L1 ENSG00000176246 frameshift substitution frameshift substitution unknown OR4L1:NM_001004717:exon1:c.245_264T, OR4L1:uc001vwn.1:exon1:c.245_264T, UNKNOWN Het;-CATAGATTTGCTCACTGAC 1270;67|37 Het;-CATAGATTTGCTCACTGAC 2198;130|66 Hom;-CATAGATTTGCTCACTGAC 5117;0|118 N N - 14 20666175 20666175 C CA indel frameshift substitution 681_681delinsCA OR11G2 Olfr744 ENSG00000196832 olfactory receptor family 11 subfamily G member 2 chr14:20665495-20666605 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Cholesterol, HDL Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR11G2 http://www.informatics.jax.org/searchtool/Search.do?query=OR11G2&submit=Quick%0D%16475ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11G2 rs398077614 0 0.6947 0.6774 1 0 0 exonic exonic exonic OR11G2 OR11G2 ENSG00000196832 frameshift substitution frameshift substitution unknown OR11G2:NM_001005503:exon1:c.681_681delinsCA, OR11G2:uc010tlb.2:exon1:c.681_681delinsCA, UNKNOWN Het;+A 2098;128|96 Het;+A 2367;97|100 Hom;+A 6785;1|225 N N - 14 20822115 20822115 C G snp intronic PARP2 Parp2 ENSG00000129484 poly(ADP-ribose) polymerase 2 chr14:20811741-20826064 This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008] null; multiple sclerosis; Alcohol Drinking; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone Homozygous mutant animals are sensitive to gamma radiation. Epithelial crypt degeneration and DNA repair deficiency is apparent following radiation-induced injury. Dual Incision in GG-NER GO:0006273;lagging strand elongation;IBA|GO:0006281;DNA repair;TAS|GO:0006284;base-excision repair;IEA|GO:0006471;protein ADP-ribosylation;TAS|GO:0018312;peptidyl-serine ADP-ribosylation;IDA|GO:0051103;DNA ligation involved in DNA repair;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IBA GO:0003677;DNA binding;IEA|GO:0003910;DNA ligase (ATP) activity;IBA|GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:1990404;protein ADP-ribosylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PARP2 https://www.uniprot.org/uniprot/Q9UGN5 https://www.ncbi.nlm.nih.gov/omim/?term=607725 http://www.informatics.jax.org/searchtool/Search.do?query=PARP2&submit=Quick%0D%6257ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP2 rs1713413 0.514776 0 0 1 0 0 intronic intronic intronic PARP2 PARP2 ENSG00000129484 Na Na Na Na Na Na Het;C>G 48;2|2 Ref Hom;C>G 133;0|4 N N - 14 20824181 20824181 T C snp synonymous SNV T1092C Y364Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic PARP2 Parp2 ENSG00000129484 poly(ADP-ribose) polymerase 2 chr14:20811741-20826064 This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008] null; multiple sclerosis; Alcohol Drinking; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone Homozygous mutant animals are sensitive to gamma radiation. Epithelial crypt degeneration and DNA repair deficiency is apparent following radiation-induced injury. Dual Incision in GG-NER GO:0006273;lagging strand elongation;IBA|GO:0006281;DNA repair;TAS|GO:0006284;base-excision repair;IEA|GO:0006471;protein ADP-ribosylation;TAS|GO:0018312;peptidyl-serine ADP-ribosylation;IDA|GO:0051103;DNA ligation involved in DNA repair;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IBA GO:0003677;DNA binding;IEA|GO:0003910;DNA ligase (ATP) activity;IBA|GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:1990404;protein ADP-ribosylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PARP2 https://www.uniprot.org/uniprot/Q9UGN5 https://www.ncbi.nlm.nih.gov/omim/?term=607725 http://www.informatics.jax.org/searchtool/Search.do?query=PARP2&submit=Quick%0D%6257ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP2 rs3093930 0.510583 0.5709 0.6122 1 0 0 exonic exonic exonic PARP2 PARP2 ENSG00000129484 synonymous SNV synonymous SNV unknown PARP2:NM_001042618:exon11:c.T1092C:p.Y364Y,PARP2:NM_005484:exon11:c.T1131C:p.Y377Y, PARP2:uc001vxb.1:exon11:c.T1131C:p.Y377Y,PARP2:uc010tle.2:exon4:c.T381C:p.Y127Y,PARP2:uc001vxd.3:exon11:c.T1092C:p.Y364Y,PARP2:uc001vxc.3:exon11:c.T1131C:p.Y377Y, UNKNOWN Het;T>C 1195;97|57 Het;T>C 1383;94|69 Hom;T>C 4865;0|178 N N - 14 20852029 20852029 A G snp nonsynonymous SNV T1633C S545P polar,hydrophilic,neutral hydrophobic,neutral TEP1 Tep1 ENSG00000129566 telomerase associated protein 1 chr14:20833826-20881588 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length. GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TEP1 https://www.uniprot.org/uniprot/Q99973 https://www.ncbi.nlm.nih.gov/omim/?term=601686 http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1 rs1760904 0.691294 0.6134 0.5627 0.15 2 13 exonic exonic exonic TEP1 TEP1 ENSG00000129566 nonsynonymous SNV nonsynonymous SNV unknown TEP1:NM_007110:exon25:c.T3583C:p.S1195P, TEP1:uc010ahk.3:exon13:c.T1633C:p.S545P,TEP1:uc010tlg.1:exon23:c.T3259C:p.S1087P,TEP1:uc001vxe.3:exon25:c.T3583C:p.S1195P, UNKNOWN Het;A>G 1756;80|76 Het;A>G 817;70|37 Hom;A>G 3262;0|110 N N - 14 20852817 20852817 G A snp nonsynonymous SNV C1213T R405C polar,hydrophilic,charged(+) polar,hydrophobic,neutral TEP1 Tep1 ENSG00000129566 telomerase associated protein 1 chr14:20833826-20881588 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length. GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TEP1 https://www.uniprot.org/uniprot/Q99973 https://www.ncbi.nlm.nih.gov/omim/?term=601686 http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1 rs1760903 0.633387 0.5510 0.5323 0.31 4 13 exonic exonic exonic TEP1 TEP1 ENSG00000129566 nonsynonymous SNV nonsynonymous SNV unknown TEP1:NM_007110:exon22:c.C3163T:p.R1055C, TEP1:uc010ahk.3:exon10:c.C1213T:p.R405C,TEP1:uc010tlg.1:exon20:c.C2839T:p.R947C,TEP1:uc001vxe.3:exon22:c.C3163T:p.R1055C, UNKNOWN Het;G>A 1316;71|61 Het;G>A 826;69|37 Hom;G>A 3270;0|114 N N - 14 21058337 21058337 C T snp UTR5;UTR3 -5704G>A RNASE11 Rnase11 ENSG00000173464 ribonuclease A family member 11 (inactive) chr14:21051054-21078043 GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005576;extracellular region;IEA GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNASE11 http://www.informatics.jax.org/searchtool/Search.do?query=RNASE11&submit=Quick%0D%13363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNASE11 rs4981259 0.392372 0 0 1 0 0 ncRNA_intronic UTR5;UTR3 ncRNA_intronic LOC254028 RNASE11(uc001vxs.3:c.-5704G>A);RNASE12(uc001vxt.3:c.*102G>A) ENSG00000258573 Na Na Na Na Na Na Het;C>T 150;7|6 Het;C>T 122;5|5 Hom;C>T 121;0|4 N N - 14 21109278 21109278 A T snp synonymous SNV T573A A191A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR6S1 Olfr750 ENSG00000181803 olfactory receptor family 6 subfamily S member 1 chr14:21108855-21109850 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR6S1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1 rs11627438 0.452476 0.5413 0.5079 1 0 0 exonic exonic exonic OR6S1 OR6S1 ENSG00000181803 synonymous SNV synonymous SNV unknown OR6S1:NM_001001968:exon1:c.T573A:p.A191A, OR6S1:uc001vxv.1:exon1:c.T573A:p.A191A, UNKNOWN Het;A>T 1278;59|57 Het;A>T 1026;48|42 Hom;A>T 2318;0|86 N N - 14 21109385 21109385 C T snp nonsynonymous SNV G466A V156I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR6S1 Olfr750 ENSG00000181803 olfactory receptor family 6 subfamily S member 1 chr14:21108855-21109850 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR6S1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1 rs11622969 0.448482 0.5326 0.4998 0.15 2 13 exonic exonic exonic OR6S1 OR6S1 ENSG00000181803 nonsynonymous SNV nonsynonymous SNV unknown OR6S1:NM_001001968:exon1:c.G466A:p.V156I, OR6S1:uc001vxv.1:exon1:c.G466A:p.V156I, UNKNOWN Het;C>T 1997;80|89 Het;C>T 1725;64|76 Hom;C>T 4172;2|158 N N - 14 21109671 21109671 A G snp synonymous SNV T180C P60P hydrophobic,neutral hydrophobic,neutral OR6S1 Olfr750 ENSG00000181803 olfactory receptor family 6 subfamily S member 1 chr14:21108855-21109850 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR6S1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1 rs11627574 0.461062 0.5430 0.5124 1 0 0 exonic exonic exonic OR6S1 OR6S1 ENSG00000181803 synonymous SNV synonymous SNV unknown OR6S1:NM_001001968:exon1:c.T180C:p.P60P, OR6S1:uc001vxv.1:exon1:c.T180C:p.P60P, UNKNOWN Het;A>G 1063;72|47 Het;A>G 622;44|27 Hom;A>G 1996;0|69 N N - 14 21109726 21109726 G A snp nonsynonymous SNV C125T T42I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral OR6S1 Olfr750 ENSG00000181803 olfactory receptor family 6 subfamily S member 1 chr14:21108855-21109850 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR6S1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1 rs11622794 0.460264 0.5412 0.5104 0.08 1 13 exonic exonic exonic OR6S1 OR6S1 ENSG00000181803 nonsynonymous SNV nonsynonymous SNV unknown OR6S1:NM_001001968:exon1:c.C125T:p.T42I, OR6S1:uc001vxv.1:exon1:c.C125T:p.T42I, UNKNOWN Het;G>A 1451;76|67 Het;G>A 792;55|37 Hom;G>A 2642;2|100 N N - 14 21109859 21109859 T C snp upstream OR6S1 Olfr750 ENSG00000181803 olfactory receptor family 6 subfamily S member 1 chr14:21108855-21109850 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR6S1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6S1&submit=Quick%0D%14674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6S1 rs11156622 0.461462 0.5410 0.5112 1 0 0 upstream upstream upstream OR6S1 OR6S1 ENSG00000181803 Na Na Na Na Na Na Het;T>C 846;34|36 Het;T>C 547;15|24 Hom;T>C 1091;0|42 N N - 14 21190168 21190168 G GA indel ncRNA_exonic RANBP20P rs34720038 0.500998 0 0 1 0 0 intergenic intergenic ncRNA_exonic RNASE4(dist=21407),EDDM3A(dist=23931) RNASE4(dist=21410),EDDM3A(dist=23931) ENSG00000259144 Na Na Na Na Na Na Het;+A 859;24|32 Het;+A 645;27|26 Hom;+A 1413;0|45 N N - 14 21190306 21190306 A T snp ncRNA_exonic RANBP20P rs2002078 0.500399 0 0 1 0 0 intergenic intergenic ncRNA_exonic RNASE4(dist=21545),EDDM3A(dist=23793) RNASE4(dist=21548),EDDM3A(dist=23793) ENSG00000259144 Na Na Na Na Na Na Het;A>T 1159;32|49 Het;A>T 761;21|35 Hom;A>T 1459;0|52 N N - 14 21190526 21190526 A C snp ncRNA_exonic RANBP20P rs7152823 0.65655 0 0 1 0 0 intergenic intergenic ncRNA_exonic RNASE4(dist=21765),EDDM3A(dist=23573) RNASE4(dist=21768),EDDM3A(dist=23573) ENSG00000259144 Na Na Na Na Na Na Het;A>C 1132;33|30 Het;A>C 901;24|24 Hom;A>C 2416;0|55 N N - 14 21190532 21190532 T C snp ncRNA_exonic RANBP20P rs7157537 0.658746 0 0 1 0 0 intergenic intergenic ncRNA_exonic RNASE4(dist=21771),EDDM3A(dist=23567) RNASE4(dist=21774),EDDM3A(dist=23567) ENSG00000259144 Na Na Na Na Na Na Het;T>C 1201;31|32 Het;T>C 897;23|24 Hom;T>C 2331;0|52 N N - 14 21360216 21360216 C G snp nonsynonymous SNV C371G T124R polar,hydrophilic,neutral polar,hydrophilic,charged(+) RNASE3 ENSG00000169397 ribonuclease A family member 3 chr14:21359558-21360507 The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014] Dermatitis, Atopic; schistosomiasis; allergic rhinitis; tropical pulmonary eosinophilia; asthma; Carcinoma, Squamous Cell|Embolism|Eosinophilia|Mouth Neoplasms|Neoplasm Invasiveness|Neoplasm Recurrence, Local|Squamous cell carcinoma Antimicrobial peptides GO:0002227;innate immune response in mucosa;IDA|GO:0006401;RNA catabolic process;TAS|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0061844;antimicrobial humoral immune response mediated by antimicrobial peptide;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004540;ribonuclease activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNASE3 https://www.ncbi.nlm.nih.gov/omim/?term=131398 http://www.informatics.jax.org/searchtool/Search.do?query=RNASE3&submit=Quick%0D%12484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNASE3 rs2073342 0.640575 0.6246 0.7148 0.08 1 13 exonic exonic exonic RNASE3 RNASE3 ENSG00000169397 nonsynonymous SNV nonsynonymous SNV unknown RNASE3:NM_002935:exon2:c.C371G:p.T124R, RNASE3:uc001vyj.3:exon2:c.C371G:p.T124R,RNASE3:uc021roq.1:exon1:c.C371G:p.T124R, UNKNOWN Het;C>G 2045;95|84 Het;C>G 1245;97|56 Hom;C>G 3474;0|124 N N - 14 21387994 21387994 A G snp nonsynonymous SNV A119G Q40R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ECRP rs10459477 0.556909 0 0.6816 1 0 0 ncRNA_exonic exonic ncRNA_exonic ECRP ECRP ENSG00000136315 Na nonsynonymous SNV Na Na ECRP:uc021ror.1:exon2:c.A119G:p.Q40R, Na Het;A>G 2534;92|98 Het;A>G 2254;91|94 Hom;A>G 5480;1|186 N N - 14 21388266 21388266 G C snp nonsynonymous SNV G391C D131H polar,hydrophilic,charged(-) aromatic,polar,hydrophilic,charged(+) ECRP rs3748340 0.557508 0 0.6813 1 0 0 ncRNA_exonic exonic ncRNA_exonic ECRP ECRP ENSG00000136315 Na nonsynonymous SNV Na Na ECRP:uc021ror.1:exon2:c.G391C:p.D131H, Na Het;G>C 1736;131|78 Het;G>C 1939;109|91 Hom;G>C 6070;0|214 N N - 14 21388302 21388302 G A snp ncRNA_exonic ECRP rs3748341 0.564097 0 0.6820 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic ECRP ECRP(uc021ror.1:c.*22G>A) ENSG00000136315 Na Na Na Na Na Na Het;G>A 1297;111|65 Het;G>A 1705;91|79 Hom;G>A 4055;0|154 N N - 14 21672669 21672669 G A snp ncRNA_exonic LINC00641 rs72673098 0.0786741 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00641 LINC00641 ENSG00000258441 Na Na Na Na Na Na Het;G>A 1840;86|73 Het;G>A 1205;104|55 Hom;G>A 4698;0|161 N N - 14 21729151 21729154 CATT C indel intronic HNRNPC Hnrnpc ENSG00000092199 heterogeneous nuclear ribonucleoprotein C (C1/C2) chr14:21677295-21737653 This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a gene trapped allele fail to undergo gastrulation, appear to arrest at the egg cylinder stage, and are resorbed at various times thereafter. Processing of Capped Intron-Containing Pre-mRNA GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001649;osteoblast differentiation;IDA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;TAS|GO:0016070;RNA metabolic process;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0070935;3'-UTR-mediated mRNA stabilization;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001649;osteoblast differentiation;IDA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;TAS|GO:0016070;RNA metabolic process;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0070935;3'-UTR-mediated mRNA stabilization;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IDA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0019013;viral nucleocapsid;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;NAS|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0031492;nucleosomal DNA binding;IDA|GO:0042802;identical protein binding;IPI|GO:0070034;telomerase RNA binding;IPI|GO:1990247;N6-methyladenosine-containing RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPC https://www.uniprot.org/uniprot/P07910 https://www.ncbi.nlm.nih.gov/omim/?term=164020 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPC&submit=Quick%0D%91ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPC rs201549806 0.0117812 0 0 1 0 0 intronic intronic intronic HNRNPC HNRNPC ENSG00000092199 Na Na Na Na Na Na Het;-ATT 295;2|9 Het;-ATT 77;4|3 Hom;-ATT 328;0|9 N N - 14 21770730 21770730 A G snp nonsynonymous SNV A574G K192E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) RPGRIP1 Rpgrip1 ENSG00000092200 retinitis pigmentosa GTPase regulator interacting protein 1 chr14:21756098-21819460 This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] Retinal Diseases; recessive cone-rod dystrophy Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. GO:0007601;visual perception;IEA|GO:0042462;eye photoreceptor cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0061351;neural precursor cell proliferation;IEA GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0097730;non-motile cilium;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1 https://www.uniprot.org/uniprot/Q96KN7 https://hpo.jax.org/app/browse/search?q=RPGRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605446 http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1&submit=Quick%0D%2184ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1 rs6571751 0.477236 0.4825 0.5480 0.15 2 13 exonic exonic exonic RPGRIP1 RPGRIP1 ENSG00000092200 nonsynonymous SNV nonsynonymous SNV unknown RPGRIP1:NM_020366:exon4:c.A574G:p.K192E, RPGRIP1:uc001wag.3:exon4:c.A574G:p.K192E, UNKNOWN Het;A>G 1016;40|43 Het;A>G 716;26|31 Hom;A>G 1866;2|72 N N - 14 21821821 21821821 A C snp intronic SUPT16H Supt16 ENSG00000092201 SPT16 homolog, facilitates chromatin remodeling subunit chr14:21819631-21852425 Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009] RNA Polymerase II Transcription Elongation GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006337;nucleosome disassembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032786;positive regulation of DNA-templated transcription, elongation;TAS|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0034724;DNA replication-independent nucleosome organization;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0035101;FACT complex;IBA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IBA|GO:0042393;histone binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SUPT16H https://www.uniprot.org/uniprot/Q9Y5B9 https://www.ncbi.nlm.nih.gov/omim/?term=605012 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT16H&submit=Quick%0D%2185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT16H rs3736824 0.351637 0.3279 0.4038 1 0 0 intronic intronic intronic SUPT16H SUPT16H ENSG00000092201 Na Na Na Na Na Na Het;A>C 1588;47|54 Het;A>C 1244;50|47 Hom;A>C 3038;1|94 N N - 14 23078520 23078520 G A snp intronic ABHD4 Abhd4 ENSG00000100439 abhydrolase domain containing 4 chr14:23067146-23081265 Acyl chain remodelling of PE GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS GO:0005789;endoplasmic reticulum membrane;TAS GO:0016787;hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABHD4 https://www.uniprot.org/uniprot/Q8TB40 http://www.informatics.jax.org/searchtool/Search.do?query=ABHD4&submit=Quick%0D%2524ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD4 rs1242930 0.277955 0 0 1 0 0 intronic intronic intronic ABHD4 ABHD4 ENSG00000100439 Na Na Na Na Na Na Het;G>A 78;12|4 Ref Hom;G>A 333;0|10 N N - 14 23079730 23079730 A G snp intronic ABHD4 Abhd4 ENSG00000100439 abhydrolase domain containing 4 chr14:23067146-23081265 Acyl chain remodelling of PE GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS GO:0005789;endoplasmic reticulum membrane;TAS GO:0016787;hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABHD4 https://www.uniprot.org/uniprot/Q8TB40 http://www.informatics.jax.org/searchtool/Search.do?query=ABHD4&submit=Quick%0D%2524ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD4 rs1242933 0.55631 0.6016 0.5024 1 0 0 intronic intronic intronic ABHD4 ABHD4 ENSG00000100439 Na Na Na Na Na Na Het;A>G 439;10|18 Ref Hom;A>G 760;0|27 N N - 14 23245301 23245301 T C snp intronic SLC7A7 Slc7a7 ENSG00000155465 solute carrier family 7 member 7 chr14:23242431-23299029 The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Homozygous null mice exhibit fetal growth retardation and often die neonatally. After heavy protein ingestion, surviving adults show a metabolic derangement akin to lysinuric protein intolerance and including a lasting postnatal growth retardation, splenomegaly, hyperammonemia, and aminoaciduria. Amino acid transport across the plasma membrane GO:0000821;regulation of arginine metabolic process;IBA|GO:0003333;amino acid transmembrane transport;IEA|GO:0006461;protein complex assembly;TAS|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;TAS|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;IEA|GO:1990822;basic amino acid transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015174;basic amino acid transmembrane transporter activity;IBA|GO:0015179;L-amino acid transmembrane transporter activity;IBA|GO:0015297;antiporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC7A7 https://www.uniprot.org/uniprot/Q9UM01 https://hpo.jax.org/app/browse/search?q=SLC7A7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603593 http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A7&submit=Quick%0D%9872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A7 rs3850290 0.563898 0 0 1 0 0 intronic intronic intronic SLC7A7 SLC7A7 ENSG00000155465 Na Na Na Na Na Na Het;T>C 469;13|17 Het;T>C 439;9|16 Hom;T>C 902;0|25 N N - 14 23443215 23443215 T G snp intronic AJUBA Ajuba ENSG00000129474 ajuba LIM protein chr14:23440383-23451851 breast cancer Homozygous null mice are viable and reach adulthood without any obvious phenotypes, however mouse embryonic fibroblasts exhibit impaired cell migration and abnormal lamellipodia production in vitro. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001666;response to hypoxia;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IBA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030334;regulation of cell migration;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0031328;positive regulation of cellular biosynthetic process;IEA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0033673;negative regulation of kinase activity;IEA|GO:0033674;positive regulation of kinase activity;IEA|GO:0034613;cellular protein localization;IEA|GO:0035195;gene silencing by miRNA;IMP|GO:0035313;wound healing, spreading of epidermal cells;IEA|GO:0035331;negative regulation of hippo signaling;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA|GO:0048041;focal adhesion assembly;IEA|GO:1900037;regulation of cellular response to hypoxia;IDA|GO:2000637;positive regulation of gene silencing by miRNA;IMP GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IBA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AJUBA https://www.uniprot.org/uniprot/Q96IF1 https://www.ncbi.nlm.nih.gov/omim/?term=609066 http://www.informatics.jax.org/searchtool/Search.do?query=AJUBA&submit=Quick%0D%6255ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AJUBA rs3751493 0.0261581 0.0002 0.0140 1 0 0 intronic intronic intronic AJUBA AJUBA ENSG00000129474,ENSG00000259132 Na Na Na Na Na Na Het;T>G 714;21|28 Ref Hom;T>G 1716;0|65 N N - 14 23680997 23680997 A T snp intronic RNF212B Rnf212b rs10130376 0.750998 0 0 1 0 0 intergenic intergenic intronic SLC7A8(dist=28128),RNF212B(dist=26130) SLC7A8(dist=28128),HOMEZ(dist=61847) ENSG00000215277 Na Na Na Na Na Na Het;A>T 140;6|5 Ref Hom;A>T 362;0|11 N N - 14 23744826 23744829 TTCC T indel nonframeshift substitution 1608_1611A HOMEZ Homez ENSG00000215271 homeobox and leucine zipper encoding chr14:23741666-23768656 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003714;transcription corepressor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/HOMEZ https://www.ncbi.nlm.nih.gov/omim/?term=608119 http://www.informatics.jax.org/searchtool/Search.do?query=HOMEZ&submit=Quick%0D%18325ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMEZ rs35076736 0.352037 0.3630 0.3729 1 0 0 exonic exonic exonic HOMEZ HOMEZ ENSG00000215271 nonframeshift substitution nonframeshift substitution unknown HOMEZ:NM_020834:exon2:c.1608_1611A, HOMEZ:uc001wja.2:exon2:c.1608_1611A,HOMEZ:uc001wjb.2:exon3:c.1614_1617A, UNKNOWN Het;-TCC 560;37|17 Ref Hom;-TCC 2165;1|53 N N - 14 23746269 23746269 C G snp synonymous SNV G168C T56T polar,hydrophilic,neutral polar,hydrophilic,neutral HOMEZ Homez ENSG00000215271 homeobox and leucine zipper encoding chr14:23741666-23768656 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003714;transcription corepressor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/HOMEZ https://www.ncbi.nlm.nih.gov/omim/?term=608119 http://www.informatics.jax.org/searchtool/Search.do?query=HOMEZ&submit=Quick%0D%18325ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMEZ rs1057119 0.182508 0.1840 0.2022 1 0 0 exonic exonic exonic HOMEZ HOMEZ ENSG00000215271 synonymous SNV synonymous SNV unknown HOMEZ:NM_020834:exon2:c.G168C:p.T56T, HOMEZ:uc001wja.2:exon2:c.G168C:p.T56T,HOMEZ:uc001wjb.2:exon3:c.G174C:p.T58T, UNKNOWN Het;C>G 2480;98|105 Ref Hom;C>G 4334;0|145 N N - 14 23848311 23848311 C T snp synonymous SNV C552T D184D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CMTM5 Cmtm5 ENSG00000166091 CKLF like MARVEL transmembrane domain containing 5 chr14:23846017-23848981 This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] GO:0006935;chemotaxis;IEA|GO:0045662;negative regulation of myoblast differentiation;IEA GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CMTM5 https://www.ncbi.nlm.nih.gov/omim/?term=607888 http://www.informatics.jax.org/searchtool/Search.do?query=CMTM5&submit=Quick%0D%11692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMTM5 rs723840 0.509385 0.5740 0.4590 1 0 0 exonic exonic exonic CMTM5 CMTM5 ENSG00000166091 synonymous SNV synonymous SNV unknown CMTM5:NM_001288746:exon4:c.C552T:p.D184D,CMTM5:NM_001288744:exon2:c.C198T:p.D66D,CMTM5:NM_138460:exon3:c.C351T:p.D117D, CMTM5:uc010akn.3:exon3:c.C237T:p.D79D,CMTM5:uc001wju.3:exon2:c.C198T:p.D66D,CMTM5:uc001wjs.3:exon3:c.C351T:p.D117D,CMTM5:uc010akm.3:exon4:c.C552T:p.D184D, UNKNOWN Het;C>T 790;55|41 Ref Hom;C>T 1168;4|48 N N - 14 23851874 23851874 A G snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs178636 0.448682 0 0 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;A>G 964;45|28 Ref Hom;A>G 2616;0|62 N N - 14 23851882 23851882 C A snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs10135780 0.223642 0 0 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;C>A 895;39|24 Ref Hom;C>A 2398;0|51 N N - 14 23852651 23852651 T G snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs35182223 0.228634 0 0 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;T>G 420;10|14 Ref Hom;T>G 640;0|20 N N - 14 23853629 23853629 T C snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs8006357 0.229633 0.2330 0.2528 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;T>C 676;52|31 Ref Hom;T>C 2431;0|88 N N - 14 23854324 23854324 A G snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs178638 0.488019 0 0 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;A>G 544;39|23 Ref Hom;A>G 1300;0|46 N N - 14 23855569 23855569 A G snp synonymous SNV T4914C A1638A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs178640 0.492812 0.5532 0.4649 1 0 0 exonic exonic exonic MYH6 MYH6 ENSG00000197616 synonymous SNV synonymous SNV unknown MYH6:NM_002471:exon33:c.T4914C:p.A1638A, MYH6:uc001wjv.3:exon33:c.T4914C:p.A1638A, UNKNOWN Het;A>G 1325;97|58 Ref Hom;A>G 3079;0|112 N N - 14 23855849 23855849 C T snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs2071634 0.235224 0.2398 0.2532 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;C>T 760;40|39 Ref Hom;C>T 1267;0|52 N N - 14 23857351 23857351 G A snp intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs8022522 0.419728 0.4842 0.3563 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;G>A 2929;167|137 Ref Hom;G>A 9292;0|347 N N - 14 23858271 23858272 AG A indel intronic MYH6 Myh6 ENSG00000197616 myosin heavy chain 6 chr14:23851199-23877486 Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] Heart Rate; cardiomyopathy; Atrial Septal Defects|Cardiomyopathy, Dilated|Congenital Heart Defects|DCM - Dilated cardiomyopathy|Heart Defects, Congenital|Heart Septal Defects, Atrial; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. Striated Muscle Contraction GO:0001701;in utero embryonic development;ISS|GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IMP|GO:0007512;adult heart development;IMP|GO:0007522;visceral muscle development;ISS|GO:0008016;regulation of heart contraction;ISS|GO:0008217;regulation of blood pressure;ISS|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030048;actin filament-based movement;IEA|GO:0030049;muscle filament sliding;TAS|GO:0030239;myofibril assembly;ISS|GO:0030509;BMP signaling pathway;IEA|GO:0043462;regulation of ATPase activity;ISS|GO:0045214;sarcomere organization;ISS|GO:0046034;ATP metabolic process;IDA|GO:0048739;cardiac muscle fiber development;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;IMP|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;ISS|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060420;regulation of heart growth;IEA GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IEA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0017018;myosin phosphatase activity;TAS|GO:0019901;protein kinase binding;IPI|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH6 https://hpo.jax.org/app/browse/search?q=MYH6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160710 http://www.informatics.jax.org/searchtool/Search.do?query=MYH6&submit=Quick%0D%16675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH6 rs193922652 0 0 0.4104 1 0 0 intronic intronic intronic MYH6 MYH6 ENSG00000197616 Na Na Na Na Na Na Het;-G 388;9|25 Ref Hom;-G 1144;2|56 N N - 14 23898884 23898885 CA C indel intronic MYH7 Myh7 ENSG00000092054 myosin heavy chain 7 chr14:23881947-23904927 Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008] Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive; Cardiomyopathy, Hypertrophic|Death, Sudden, Cardiac; cardiomyopathy; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Cardiomyopathy, Hypertrophic|; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic|Death, Sudden, Cardiac|Hypertrophic Cardiomyopathy|Sudden Cardiac Death; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|; Perioperative genomic profiles ; hypertrophic cardiomyopathy; null; dilated cardiomyopathy; left ventricular wall thickness; idiopathic dilated cardiomyopathy; Cardiomegaly|Cardiomyopathy, Dilated|; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy; Cardiomyopathy, Hypertrophic|Hypertrophy, Left Ventricular|Tachycardia, Ventricular; pronounced septal hypertrophy; Cardiomyopathy, Hypertrophic; Tobacco Use Disorder; Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Cardiomyopathies Translocation of GLUT4 to the plasma membrane GO:0002026;regulation of the force of heart contraction;IDA|GO:0002027;regulation of heart rate;IDA|GO:0003009;skeletal muscle contraction;IMP|GO:0006936;muscle contraction;IDA|GO:0006941;striated muscle contraction;IDA|GO:0007512;adult heart development;IMP|GO:0014728;regulation of the force of skeletal muscle contraction;IMP|GO:0014883;transition between fast and slow fiber;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0030049;muscle filament sliding;IMP|GO:0031449;regulation of slow-twitch skeletal muscle fiber contraction;IMP|GO:0046034;ATP metabolic process;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;IMP GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;TAS|GO:0030018;Z disc;IEA|GO:0032982;myosin filament;IDA GO:0000146;microfilament motor activity;NAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0030898;actin-dependent ATPase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/MYH7 https://www.uniprot.org/uniprot/P12883 https://hpo.jax.org/app/browse/search?q=MYH7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160760 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7&submit=Quick%0D%2175ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7 rs398024561 0.684305 0 0 1 0 0 intronic intronic intronic MYH7 MYH7 ENSG00000092054 Na Na Na Na Na Na Het;-A 217;7|16 Het;-A 416;10|27 Hom;-A 374;1|18 N N - 14 23938813 23938813 A G snp upstream NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs8015781 0.862021 0 0 1 0 0 upstream upstream upstream NGDN NGDN ENSG00000129460 Na Na Na Na Na Na Het;A>G 312;18|10 Het;A>G 383;24|17 Hom;A>G 1366;0|38 N N - 14 23940081 23940081 A G snp intronic NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs1028587 0.70028 0.7608 0.7698 1 0 0 intronic intronic intronic NGDN NGDN ENSG00000129460 Na Na Na Na Na Na Het;A>G 398;19|11 Het;A>G 380;13|9 Hom;A>G 827;0|18 N N - 14 23940086 23940086 A G snp intronic NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs1028588 0.88758 0 0.8994 1 0 0 intronic intronic intronic NGDN NGDN ENSG00000129460 Na Na Na Na Na Na Het;A>G 433;19|11 Het;A>G 374;19|11 Hom;A>G 827;0|19 N N - 14 23940089 23940090 AC A indel intronic NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs3215682 0.70028 0 0.7698 1 0 0 intronic intronic intronic NGDN NGDN ENSG00000129460 Na Na Na Na Na Na Het;-C 399;20|12 Het;-C 365;20|11 Hom;-C 843;0|20 N N - 14 23944505 23944505 G A snp synonymous SNV G270A V90V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs2236260 0.60024 0.6429 0.7086 1 0 0 exonic exonic exonic NGDN NGDN ENSG00000129460 synonymous SNV synonymous SNV unknown NGDN:NM_015514:exon4:c.G270A:p.V90V,NGDN:NM_001042635:exon4:c.G270A:p.V90V, NGDN:uc001wjz.3:exon4:c.G270A:p.V90V,NGDN:uc001wjy.3:exon4:c.G270A:p.V90V, UNKNOWN Het;G>A 1253;61|38 Het;G>A 1712;55|47 Hom;G>A 3804;0|89 N N - 14 23944514 23944514 C A snp synonymous SNV C279A R93R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs2236261 0.678315 0.7397 0.7646 1 0 0 exonic exonic exonic NGDN NGDN ENSG00000129460 synonymous SNV synonymous SNV unknown NGDN:NM_015514:exon4:c.C279A:p.R93R,NGDN:NM_001042635:exon4:c.C279A:p.R93R, NGDN:uc001wjz.3:exon4:c.C279A:p.R93R,NGDN:uc001wjy.3:exon4:c.C279A:p.R93R, UNKNOWN Het;C>A 1205;54|34 Het;C>A 1648;50|44 Hom;C>A 3671;0|80 N N - 14 23945366 23945366 A G snp intronic NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs2295706 0.700679 0.7611 0.7710 1 0 0 intronic intronic intronic NGDN NGDN ENSG00000129460 Na Na Na Na Na Na Het;A>G 1850;82|80 Het;A>G 1399;79|61 Hom;A>G 4194;0|147 N N - 14 23947374 23947374 G A snp UTR3 *139G>A NGDN Ngdn ENSG00000129460 neuroguidin chr14:23938897-23979071 Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] Heart Rate GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006417;regulation of translation;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032040;small-subunit processome;IBA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NGDN https://www.uniprot.org/uniprot/Q8NEJ9 https://www.ncbi.nlm.nih.gov/omim/?term=610777 http://www.informatics.jax.org/searchtool/Search.do?query=NGDN&submit=Quick%0D%6250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NGDN rs1956950 0.828874 0 0 1 0 0 UTR3 UTR3 UTR3 NGDN(NM_015514:c.*597G>A,NM_001042635:c.*139G>A) NGDN(uc001wjy.3:c.*139G>A,uc001wjz.3:c.*597G>A) ENSG00000129460(ENST00000408901:c.*139G>A,ENST00000397154:c.*597G>A,ENST00000556580:c.*139G>A) Na Na Na Na Na Na Het;G>A 106;7|5 Het;G>A 160;16|7 Hom;G>A 268;0|8 N N - 14 24429093 24429093 A C snp ncRNA_intronic DHRS4-AS1 rs11158474 0.488019 0.3013 0.4559 1 0 0 intronic intronic ncRNA_intronic DHRS4 DHRS4,DHRS4L2 ENSG00000215256 Na Na Na Na Na Na Het;A>C 1508;80|59 Het;A>C 728;86|39 Hom;A>C 2825;2|89 N N - 14 24429249 24429249 G A snp ncRNA_intronic DHRS4-AS1 rs3742491 0.228235 0.0960 0.1626 1 0 0 intronic intronic ncRNA_intronic DHRS4 DHRS4,DHRS4L2 ENSG00000215256 Na Na Na Na Na Na Het;G>A 1785;61|75 Het;G>A 1372;24|60 Hom;G>A 3657;0|128 N N - 14 24429298 24429298 C G snp ncRNA_intronic DHRS4-AS1 rs3742492 0.321885 0 0 1 0 0 intronic intronic ncRNA_intronic DHRS4 DHRS4,DHRS4L2 ENSG00000215256 Na Na Na Na Na Na Het;C>G 1117;37|43 Het;C>G 789;13|34 Hom;C>G 2289;0|78 N N - 14 24429412 24429412 A G snp ncRNA_intronic DHRS4-AS1 rs3742494 0.325879 0 0 1 0 0 intronic intronic ncRNA_intronic DHRS4 DHRS4,DHRS4L2 ENSG00000215256 Na Na Na Na Na Na Het;A>G 433;2|12 Het;A>G 72;5|3 Hom;A>G 304;0|8 N N - 14 24435308 24435308 C A snp ncRNA_intronic DHRS4-AS1 rs138982419 0.276558 0 0 1 0 0 intronic intronic ncRNA_intronic DHRS4 DHRS4,DHRS4L2 ENSG00000215256 Na Na Na Na Na Na Het;C>A 295;4|11 Ref Hom;C>A 148;0|5 N N - 14 24438189 24438189 C A snp UTR3 *109C>A DHRS4 Dhrs4 ENSG00000157326 dehydrogenase/reductase 4 chr14:24422795-24438488 Acquired Immunodeficiency Syndrome|Disease Progression Homozygous mutant mice exhibit a decreased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. Female mutants exhibit an increased depressive-like response during tail suspension testing. RA biosynthesis pathway GO:0006066;alcohol metabolic process;IDA|GO:0008202;steroid metabolic process;IDA|GO:0042180;cellular ketone metabolic process;IDA|GO:0042572;retinol metabolic process;IEA|GO:0051262;protein tetramerization;IDA|GO:0055114;oxidation-reduction process;IDA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;ISS|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000253;3-keto sterol reductase activity;IDA|GO:0004090;carbonyl reductase (NADPH) activity;IDA|GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;IDA|GO:0018455;alcohol dehydrogenase [NAD(P)+] activity;IDA|GO:0052650;NADP-retinol dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DHRS4 https://www.ncbi.nlm.nih.gov/omim/?term=611596 http://www.informatics.jax.org/searchtool/Search.do?query=DHRS4&submit=Quick%0D%10080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHRS4 rs4706 0.599042 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic DHRS4(NM_001282990:c.*109C>A,NM_001282988:c.*109C>A,NM_001282987:c.*173C>A,NM_001282991:c.*109C>A,NM_021004:c.*109C>A,NM_001282989:c.*109C>A) DHRS4(uc001wla.3:c.*109C>A,uc001wlb.3:c.*109C>A,uc010akz.3:c.*109C>A) ENSG00000215256 Na Na Na Na Na Na Het;C>A 67;5|4 Ref Hom;C>A 166;0|7 N N - 14 24458162 24458162 G C snp nonsynonymous SNV G6C Q2H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) DHRS4L2 Dhrs4 ENSG00000187630 dehydrogenase/reductase 4 like 2 chr14:24439148-24475617 This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] Homozygous mutant mice exhibit a decreased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. Female mutants exhibit an increased depressive-like response during tail suspension testing. GO:0055114;oxidation-reduction process;IEA GO:0005576;extracellular region;IEA GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DHRS4L2 https://www.ncbi.nlm.nih.gov/omim/?term=615196 http://www.informatics.jax.org/searchtool/Search.do?query=DHRS4L2&submit=Quick%0D%15861ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHRS4L2 rs2273946 0.673922 0.5159 0.4516 0.09 1 11 exonic exonic exonic DHRS4L2 DHRS4L2 ENSG00000187630 nonsynonymous SNV nonsynonymous SNV unknown DHRS4L2:NM_198083:exon1:c.G6C:p.Q2H, DHRS4L2:uc001wli.4:exon1:c.G6C:p.Q2H, UNKNOWN Het;G>C 1450;35|59 Het;G>C 956;46|44 Hom;G>C 3058;0|110 N N - 14 24543873 24543873 G A snp intronic CPNE6 Cpne6 ENSG00000100884 copine 6 chr14:24540046-24547309 This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013] longevity Mice homozygous for a knock-out allele exhibit impaired synaptic plasticity, reduced long term potentiation, and deficits in hippocampus-dependent learning and memory. Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007399;nervous system development;TAS|GO:0016192;vesicle-mediated transport;TAS|GO:0030154;cell differentiation;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IEA|GO:0045334;clathrin-coated endocytic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0001786;phosphatidylserine binding;ISS|GO:0005215;transporter activity;TAS|GO:0005509;calcium ion binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CPNE6 https://www.uniprot.org/uniprot/O95741 https://www.ncbi.nlm.nih.gov/omim/?term=605688 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE6&submit=Quick%0D%2611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE6 rs2025256 0.79393 0.7114 0.8164 1 0 0 intronic intronic intronic CPNE6 CPNE6 ENSG00000100884 Na Na Na Na Na Na Het;G>A 1800;106|85 Ref Hom;G>A 3821;0|139 N N - 14 24545375 24545375 C T snp synonymous SNV C1107T T369T polar,hydrophilic,neutral polar,hydrophilic,neutral CPNE6 Cpne6 ENSG00000100884 copine 6 chr14:24540046-24547309 This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013] longevity Mice homozygous for a knock-out allele exhibit impaired synaptic plasticity, reduced long term potentiation, and deficits in hippocampus-dependent learning and memory. Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007399;nervous system development;TAS|GO:0016192;vesicle-mediated transport;TAS|GO:0030154;cell differentiation;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IEA|GO:0045334;clathrin-coated endocytic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0001786;phosphatidylserine binding;ISS|GO:0005215;transporter activity;TAS|GO:0005509;calcium ion binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CPNE6 https://www.uniprot.org/uniprot/O95741 https://www.ncbi.nlm.nih.gov/omim/?term=605688 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE6&submit=Quick%0D%2611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE6 rs2070341 0.39377 0.4656 0.5290 1 0 0 exonic exonic exonic CPNE6 CPNE6 ENSG00000100884 synonymous SNV synonymous SNV unknown CPNE6:NM_001280558:exon12:c.C1107T:p.T369T,CPNE6:NM_006032:exon11:c.C942T:p.T314T, CPNE6:uc010tnv.2:exon12:c.C1107T:p.T369T,CPNE6:uc001wlm.3:exon10:c.C417T:p.T139T,CPNE6:uc001wll.3:exon11:c.C942T:p.T314T, UNKNOWN Het;C>T 695;53|34 Ref Hom;C>T 1932;0|67 N N - 14 24624191 24624191 G A snp UTR5 -175G>A RNF31 Rnf31 ENSG00000092098 ring finger protein 31 chr14:24615892-24629870 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] Dengue Hemorrhagic Fever Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. TNFR1-induced NFkappaB signaling pathway GO:0000209;protein polyubiquitination;IDA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016567;protein ubiquitination;IEA|GO:0023035;CD40 signaling pathway;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0050852;T cell receptor signaling pathway;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0097039;protein linear polyubiquitination;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0071797;LUBAC complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF31 https://www.uniprot.org/uniprot/Q96EP0 https://www.ncbi.nlm.nih.gov/omim/?term=612487 http://www.informatics.jax.org/searchtool/Search.do?query=RNF31&submit=Quick%0D%2180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF31 rs11622031 0.58766 0 0 1 0 0 intronic intronic UTR5 RNF31 RNF31 ENSG00000092098(ENST00000560754:c.-175G>A) Na Na Na Na Na Na Het;G>A 75;2|3 Het;G>A 34;2|2 Hom;G>A 88;0|4 N N - 14 24624741 24624741 C G snp intronic RNF31 Rnf31 ENSG00000092098 ring finger protein 31 chr14:24615892-24629870 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] Dengue Hemorrhagic Fever Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. TNFR1-induced NFkappaB signaling pathway GO:0000209;protein polyubiquitination;IDA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016567;protein ubiquitination;IEA|GO:0023035;CD40 signaling pathway;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0050852;T cell receptor signaling pathway;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0097039;protein linear polyubiquitination;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0071797;LUBAC complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF31 https://www.uniprot.org/uniprot/Q96EP0 https://www.ncbi.nlm.nih.gov/omim/?term=612487 http://www.informatics.jax.org/searchtool/Search.do?query=RNF31&submit=Quick%0D%2180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF31 rs2295979 0.652955 0.5301 0.5542 1 0 0 intronic intronic intronic RNF31 RNF31 ENSG00000092098,ENSG00000259529 Na Na Na Na Na Na Het;C>G 2375;134|107 Het;C>G 1681;91|72 Hom;C>G 5108;0|175 N N - 14 24625031 24625031 C G snp intronic RNF31 Rnf31 ENSG00000092098 ring finger protein 31 chr14:24615892-24629870 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] Dengue Hemorrhagic Fever Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. TNFR1-induced NFkappaB signaling pathway GO:0000209;protein polyubiquitination;IDA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016567;protein ubiquitination;IEA|GO:0023035;CD40 signaling pathway;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0050852;T cell receptor signaling pathway;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0097039;protein linear polyubiquitination;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0071797;LUBAC complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF31 https://www.uniprot.org/uniprot/Q96EP0 https://www.ncbi.nlm.nih.gov/omim/?term=612487 http://www.informatics.jax.org/searchtool/Search.do?query=RNF31&submit=Quick%0D%2180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF31 rs4982862 0.727636 0 0 1 0 0 intronic intronic intronic RNF31 RNF31 ENSG00000092098,ENSG00000259529 Na Na Na Na Na Na Het;C>G 259;5|9 Het;C>G 173;9|8 Hom;C>G 479;0|14 N N - 14 24647522 24647522 G T snp intronic REC8 Rec8 ENSG00000100918 REC8 meiotic recombination protein chr14:24641062-24649463 This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] Azoospermia|Oligospermia Homozygous null mice are infertile and exhibit small ovaries and testes. Females show absence of ovarian follicles and abnormal meiosis, while males exhibit abnormal chromosome pairing during meiosis, abnormal synaptonemal complex formation, and arrest of male meiosis. Meiotic synapsis GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0001556;oocyte maturation;IEA|GO:0006302;double-strand break repair;IBA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;TAS|GO:0007286;spermatid development;IEA|GO:0009566;fertilization;IEA|GO:0051321;meiotic cell cycle;TAS|GO:0072520;seminiferous tubule development;IEA GO:0000228;nuclear chromosome;IEA|GO:0000775;chromosome, centromeric region;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IEA|GO:0000780;condensed nuclear chromosome, centromeric region;IEA|GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000798;nuclear cohesin complex;IBA|GO:0000800;lateral element;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IEA|GO:0034991;nuclear meiotic cohesin complex;IEA GO:0003682;chromatin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/REC8 https://www.uniprot.org/uniprot/O95072 https://www.ncbi.nlm.nih.gov/omim/?term=608193 http://www.informatics.jax.org/searchtool/Search.do?query=REC8&submit=Quick%0D%2621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REC8 rs3736840 0.232628 0 0 1 0 0 intronic intronic intronic REC8 REC8 ENSG00000100918 Na Na Na Na Na Na Het;G>T 681;22|28 Het;G>T 604;25|23 Hom;G>T 1436;0|47 N N - 14 24647814 24647814 T C snp synonymous SNV T996C P332P hydrophobic,neutral hydrophobic,neutral REC8 Rec8 ENSG00000100918 REC8 meiotic recombination protein chr14:24641062-24649463 This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] Azoospermia|Oligospermia Homozygous null mice are infertile and exhibit small ovaries and testes. Females show absence of ovarian follicles and abnormal meiosis, while males exhibit abnormal chromosome pairing during meiosis, abnormal synaptonemal complex formation, and arrest of male meiosis. Meiotic synapsis GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0001556;oocyte maturation;IEA|GO:0006302;double-strand break repair;IBA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;TAS|GO:0007286;spermatid development;IEA|GO:0009566;fertilization;IEA|GO:0051321;meiotic cell cycle;TAS|GO:0072520;seminiferous tubule development;IEA GO:0000228;nuclear chromosome;IEA|GO:0000775;chromosome, centromeric region;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IEA|GO:0000780;condensed nuclear chromosome, centromeric region;IEA|GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000798;nuclear cohesin complex;IBA|GO:0000800;lateral element;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IEA|GO:0034991;nuclear meiotic cohesin complex;IEA GO:0003682;chromatin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/REC8 https://www.uniprot.org/uniprot/O95072 https://www.ncbi.nlm.nih.gov/omim/?term=608193 http://www.informatics.jax.org/searchtool/Search.do?query=REC8&submit=Quick%0D%2621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REC8 rs1885711 0.732628 0.5939 0.5875 1 0 0 exonic exonic exonic REC8 REC8 ENSG00000100918 synonymous SNV synonymous SNV unknown REC8:NM_005132:exon14:c.T996C:p.P332P,REC8:NM_001048205:exon13:c.T996C:p.P332P, REC8:uc001wms.3:exon13:c.T996C:p.P332P,REC8:uc001wmr.3:exon14:c.T996C:p.P332P, UNKNOWN Het;T>C 1383;69|64 Het;T>C 1331;71|60 Hom;T>C 3592;0|135 N N - 14 24647957 24647957 C T snp intronic REC8 Rec8 ENSG00000100918 REC8 meiotic recombination protein chr14:24641062-24649463 This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] Azoospermia|Oligospermia Homozygous null mice are infertile and exhibit small ovaries and testes. Females show absence of ovarian follicles and abnormal meiosis, while males exhibit abnormal chromosome pairing during meiosis, abnormal synaptonemal complex formation, and arrest of male meiosis. Meiotic synapsis GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0001556;oocyte maturation;IEA|GO:0006302;double-strand break repair;IBA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007141;male meiosis I;IEA|GO:0007283;spermatogenesis;TAS|GO:0007286;spermatid development;IEA|GO:0009566;fertilization;IEA|GO:0051321;meiotic cell cycle;TAS|GO:0072520;seminiferous tubule development;IEA GO:0000228;nuclear chromosome;IEA|GO:0000775;chromosome, centromeric region;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IEA|GO:0000780;condensed nuclear chromosome, centromeric region;IEA|GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000798;nuclear cohesin complex;IBA|GO:0000800;lateral element;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IEA|GO:0034991;nuclear meiotic cohesin complex;IEA GO:0003682;chromatin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/REC8 https://www.uniprot.org/uniprot/O95072 https://www.ncbi.nlm.nih.gov/omim/?term=608193 http://www.informatics.jax.org/searchtool/Search.do?query=REC8&submit=Quick%0D%2621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REC8 rs1885710 0.730631 0.5976 0.5816 1 0 0 intronic intronic intronic REC8 REC8 ENSG00000100918 Na Na Na Na Na Na Het;C>T 999;75|49 Het;C>T 1117;18|44 Hom;C>T 2351;2|83 N N - 14 24649835 24649835 T C snp intronic IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs2273911 0.594249 0.4836 0 1 0 0 intronic intronic intronic IPO4 IPO4 ENSG00000196497,ENSG00000259522 Na Na Na Na Na Na Het;T>C 800;40|33 Het;T>C 584;24|24 Hom;T>C 1896;0|65 N N - 14 24650047 24650047 A G snp intronic IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs7145633 0.605831 0 0 1 0 0 intronic intronic intronic IPO4 IPO4 ENSG00000196497,ENSG00000259522 Na Na Na Na Na Na Het;A>G 374;11|15 Het;A>G 236;8|11 Hom;A>G 526;0|17 N N - 14 24652107 24652107 A AG indel intronic IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs34130297 0.732628 0.5952 0 1 0 0 intronic intronic intronic IPO4 IPO4 ENSG00000196497,ENSG00000259522 Na Na Na Na Na Na Het;+G 1061;31|42 Het;+G 532;18|21 Hom;+G 1200;0|39 N N - 14 24653954 24653954 G A snp nonsynonymous SNV C1538T A513V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs7146310 0.317891 0.2646 0.3170 0.31 4 13 exonic exonic exonic IPO4 IPO4 ENSG00000196497 nonsynonymous SNV nonsynonymous SNV unknown IPO4:NM_024658:exon16:c.C1538T:p.A513V, IPO4:uc001wmv.1:exon16:c.C1538T:p.A513V,IPO4:uc001wmu.2:exon15:c.C524T:p.A175V,IPO4:uc001wmy.1:exon15:c.C1130T:p.A377V,IPO4:uc001wmx.1:exon16:c.C1130T:p.A377V,IPO4:uc001wmz.2:exon17:c.C1538T:p.A513V, UNKNOWN Het;G>A 1739;68|78 Het;G>A 1244;57|60 Hom;G>A 3946;0|143 N N - 14 24654489 24654489 T C snp synonymous SNV A1308G V436V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs2025258 0.461661 0.3514 0.3910 1 0 0 exonic exonic exonic IPO4 IPO4 ENSG00000196497 synonymous SNV synonymous SNV unknown IPO4:NM_024658:exon14:c.A1308G:p.V436V, IPO4:uc001wmv.1:exon14:c.A1308G:p.V436V,IPO4:uc001wmu.2:exon13:c.A294G:p.V98V,IPO4:uc001wmy.1:exon13:c.A900G:p.V300V,IPO4:uc001wmx.1:exon14:c.A900G:p.V300V,IPO4:uc001wmz.2:exon15:c.A1308G:p.V436V, UNKNOWN Het;T>C 1310;83|60 Het;T>C 918;61|44 Hom;T>C 3319;0|121 N N - 14 24656251 24656251 C T snp intronic IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs2295978 0.341054 0.2944 0.3122 1 0 0 intronic intronic intronic IPO4 IPO4 ENSG00000196497,ENSG00000259522 Na Na Na Na Na Na Het;C>T 1526;64|67 Het;C>T 1255;42|56 Hom;C>T 2753;2|98 N N - 14 24657407 24657407 T G snp UTR3 *157A>C IPO4 Ipo4 ENSG00000196497 importin 4 chr14:24649425-24658170 GO:0000060;protein import into nucleus, translocation;IBA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;NAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IPO4 http://www.informatics.jax.org/searchtool/Search.do?query=IPO4&submit=Quick%0D%16381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IPO4 rs6573607 0.733027 0.5921 0.5962 1 0 0 intronic intronic UTR3 IPO4 IPO4 ENSG00000196497(ENST00000561034:c.*157A>C) Na Na Na Na Na Na Het;T>G 165;17|9 Het;T>G 299;11|12 Hom;T>G 556;0|20 N N - 14 24735130 24735130 A G snp intronic RABGGTA Rabggta ENSG00000100949 Rab geranylgeranyltransferase alpha subunit chr14:24734744-24740945 Iron Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. RAB geranylgeranylation GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA https://www.uniprot.org/uniprot/Q92696 https://www.ncbi.nlm.nih.gov/omim/?term=601905 http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA rs6573651 0.392971 0 0 1 0 0 intronic intronic intronic RABGGTA RABGGTA ENSG00000100949 Na Na Na Na Na Na Het;A>G 59;10|3 Ref Hom;A>G 181;0|5 N N - 14 24735624 24735624 A G snp intronic RABGGTA Rabggta ENSG00000100949 Rab geranylgeranyltransferase alpha subunit chr14:24734744-24740945 Iron Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. RAB geranylgeranylation GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA https://www.uniprot.org/uniprot/Q92696 https://www.ncbi.nlm.nih.gov/omim/?term=601905 http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA rs2877612 0.363818 0.2604 0.3003 1 0 0 intronic intronic intronic RABGGTA RABGGTA ENSG00000100949 Na Na Na Na Na Na Het;A>G 628;41|29 Ref Hom;A>G 2282;0|85 N N - 14 24736027 24736027 G A snp synonymous SNV C1422T R474R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) RABGGTA Rabggta ENSG00000100949 Rab geranylgeranyltransferase alpha subunit chr14:24734744-24740945 Iron Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. RAB geranylgeranylation GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA https://www.uniprot.org/uniprot/Q92696 https://www.ncbi.nlm.nih.gov/omim/?term=601905 http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA rs14193 0.585863 0.4593 0.4541 1 0 0 exonic exonic exonic RABGGTA RABGGTA ENSG00000100949 synonymous SNV synonymous SNV unknown RABGGTA:NM_004581:exon14:c.C1422T:p.R474R,RABGGTA:NM_182836:exon15:c.C1422T:p.R474R, RABGGTA:uc001wof.4:exon14:c.C1422T:p.R474R,RABGGTA:uc001wog.4:exon15:c.C1422T:p.R474R, UNKNOWN Het;G>A 1610;72|75 Ref Hom;G>A 3338;0|120 N N - 14 24736157 24736157 G A snp intronic RABGGTA Rabggta ENSG00000100949 Rab geranylgeranyltransferase alpha subunit chr14:24734744-24740945 Iron Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. RAB geranylgeranylation GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA https://www.uniprot.org/uniprot/Q92696 https://www.ncbi.nlm.nih.gov/omim/?term=601905 http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA rs941503 0.60004 0 0 1 0 0 intronic intronic intronic RABGGTA RABGGTA ENSG00000100949 Na Na Na Na Na Na Het;G>A 854;33|36 Ref Hom;G>A 1793;0|62 N N - 14 24736961 24736961 T C snp nonsynonymous SNV A1258G T420A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral RABGGTA Rabggta ENSG00000100949 Rab geranylgeranyltransferase alpha subunit chr14:24734744-24740945 Iron Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. RAB geranylgeranylation GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA https://www.uniprot.org/uniprot/Q92696 https://www.ncbi.nlm.nih.gov/omim/?term=601905 http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA rs729421 0.602436 0.4807 0.4669 0.15 2 13 exonic exonic exonic RABGGTA RABGGTA ENSG00000100949 nonsynonymous SNV nonsynonymous SNV unknown RABGGTA:NM_004581:exon13:c.A1258G:p.T420A,RABGGTA:NM_182836:exon14:c.A1258G:p.T420A, RABGGTA:uc001wof.4:exon13:c.A1258G:p.T420A,RABGGTA:uc001wog.4:exon14:c.A1258G:p.T420A, UNKNOWN Het;T>C 2419;87|101 Ref Hom;T>C 5320;0|190 N N - 14 24737203 24737203 A T snp intronic RABGGTA Rabggta ENSG00000100949 Rab geranylgeranyltransferase alpha subunit chr14:24734744-24740945 Iron Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. RAB geranylgeranylation GO:0006461;protein complex assembly;IEA|GO:0006464;cellular protein modification process;TAS|GO:0007601;visual perception;TAS|GO:0018342;protein prenylation;IEA|GO:0018344;protein geranylgeranylation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005968;Rab-protein geranylgeranyltransferase complex;IEA GO:0004659;prenyltransferase activity;IEA|GO:0004663;Rab geranylgeranyltransferase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0008318;protein prenyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABGGTA https://www.uniprot.org/uniprot/Q92696 https://www.ncbi.nlm.nih.gov/omim/?term=601905 http://www.informatics.jax.org/searchtool/Search.do?query=RABGGTA&submit=Quick%0D%2626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABGGTA rs941502 0.602236 0.4693 0.4705 1 0 0 intronic intronic intronic RABGGTA RABGGTA ENSG00000100949 Na Na Na Na Na Na Het;A>T 721;28|27 Ref Hom;A>T 1345;0|46 N N - 14 24794440 24794440 T G snp intronic ADCY4 Adcy4 ENSG00000129467 adenylate cyclase 4 chr14:24787555-24804299 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Chronic renal failure|Kidney Failure, Chronic Mice homozygous for disruptions of this gene display a normal phenotype. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY4 https://www.uniprot.org/uniprot/Q8NFM4 https://www.ncbi.nlm.nih.gov/omim/?term=600292 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4 rs17184689 0.178514 0 0 1 0 0 intronic intronic intronic ADCY4 ADCY4 ENSG00000129467 Na Na Na Na Na Na Het;T>G 165;4|6 Ref Hom;T>G 184;0|5 N N - 14 24799024 24799024 G C snp intronic ADCY4 Adcy4 ENSG00000129467 adenylate cyclase 4 chr14:24787555-24804299 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Chronic renal failure|Kidney Failure, Chronic Mice homozygous for disruptions of this gene display a normal phenotype. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY4 https://www.uniprot.org/uniprot/Q8NFM4 https://www.ncbi.nlm.nih.gov/omim/?term=600292 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4 rs1109152 0.211062 0.1953 0.2460 1 0 0 intronic intronic intronic ADCY4 ADCY4 ENSG00000129467 Na Na Na Na Na Na Het;G>C 1225;41|47 Het;G>C 426;19|15 Hom;G>C 1490;0|50 N N - 14 24799287 24799287 A T snp intronic ADCY4 Adcy4 ENSG00000129467 adenylate cyclase 4 chr14:24787555-24804299 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Chronic renal failure|Kidney Failure, Chronic Mice homozygous for disruptions of this gene display a normal phenotype. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY4 https://www.uniprot.org/uniprot/Q8NFM4 https://www.ncbi.nlm.nih.gov/omim/?term=600292 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4 rs1109153 0.265575 0 0 1 0 0 intronic intronic intronic ADCY4 ADCY4 ENSG00000129467 Na Na Na Na Na Na Het;A>T 1909;81|78 Het;A>T 746;62|38 Hom;A>T 2054;0|68 N N - 14 24799578 24799578 C G snp intronic ADCY4 Adcy4 ENSG00000129467 adenylate cyclase 4 chr14:24787555-24804299 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Chronic renal failure|Kidney Failure, Chronic Mice homozygous for disruptions of this gene display a normal phenotype. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;IBA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;ISS|GO:0004383;guanylate cyclase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY4 https://www.uniprot.org/uniprot/Q8NFM4 https://www.ncbi.nlm.nih.gov/omim/?term=600292 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY4&submit=Quick%0D%6252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY4 rs12436417 0.265375 0 0.2946 1 0 0 intronic intronic intronic ADCY4 ADCY4 ENSG00000129467 Na Na Na Na Na Na Het;C>G 784;29|32 Het;C>G 657;25|29 Hom;C>G 1636;0|56 N N - 14 24838621 24838621 C T snp UTR5 -194C>T NFATC4 Nfatc4 ENSG00000100968 nuclear factor of activated T-cells 4 chr14:24834879-24848810 This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Alzheimer Disease|Alzheimer's Disease; elite endurance; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IEA|GO:0034644;cellular response to UV;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045333;cellular respiration;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048167;regulation of synaptic plasticity;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0055001;muscle cell development;IEA|GO:0071285;cellular response to lithium ion;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IGI|GO:1904637;cellular response to ionomycin;IEA|GO:2000297;negative regulation of synapse maturation;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0016607;nuclear speck;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IGI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0042975;peroxisome proliferator activated receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NFATC4 https://www.uniprot.org/uniprot/Q14934 https://www.ncbi.nlm.nih.gov/omim/?term=602699 http://www.informatics.jax.org/searchtool/Search.do?query=NFATC4&submit=Quick%0D%2627ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC4 rs1955915 0.5627 0 0.4458 1 0 0 intronic UTR5 UTR5 NFATC4 NFATC4(uc010tou.2:c.-194C>T,uc010tow.2:c.-194C>T,uc010tox.2:c.-194C>T) ENSG00000100968(ENST00000557451:c.-194C>T,ENST00000554661:c.-194C>T,ENST00000554344:c.-194C>T) Na Na Na Na Na Na Het;C>T 335;75|22 Het;C>T 753;49|34 Hom;C>T 2414;0|80 N N - 14 26904177 26904177 C T snp intergenic STXBP6 Stxbp6 ENSG00000168952 syntaxin binding protein 6 chr14:25278862-25519503 STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008] Hemoglobins; Heart Failure; Tobacco Use Disorder; Waist-Hip Ratio; Blood Pressure; Hematocrit; Urinalysis; Neutrophils GO:0006893;Golgi to plasma membrane transport;IBA|GO:0016192;vesicle-mediated transport;IEA|GO:0035542;regulation of SNARE complex assembly;IDA|GO:0045920;negative regulation of exocytosis;TAS|GO:0051601;exocyst localization;IBA|GO:0098609;cell-cell adhesion;IEA GO:0000145;exocyst;IBA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IBA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0017049;GTP-Rho binding;IBA|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA http://www.genecards.org/index.php?path=/Search/keyword/STXBP6 https://www.ncbi.nlm.nih.gov/omim/?term=607958 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP6&submit=Quick%0D%12385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP6 rs178234 0.799121 0 0 1 0 0 intergenic intergenic intergenic STXBP6(dist=1384674),NOVA1(dist=10912) Mir_548(dist=262721),NOVA1(dist=10912) ENSG00000257503(dist=226547),ENSG00000139910(dist=8122) Na Na Na Na Na Na Het;C>T 113;4|5 Het;C>T 157;7|9 Hom;C>T 60;0|3 N N - 14 27287979 27287979 A G snp ncRNA_exonic LOC102724890 rs11623155 0.405351 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC102724890 NOVA1(dist=221019),MIR4307(dist=89869) ENSG00000257185 Na Na Na Na Na Na Het;A>G 173;3|5 Het;A>G 974;16|25 Hom;A>G 1688;1|40 N N - 14 27287980 27287980 G A snp ncRNA_exonic LOC102724890 rs11627147 0.404353 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC102724890 NOVA1(dist=221020),MIR4307(dist=89868) ENSG00000257185 Na Na Na Na Na Na Het;G>A 173;3|5 Het;G>A 974;16|25 Hom;G>A 1688;0|40 N N - 14 27342272 27342272 T TC indel upstream LOC101927081 rs397789120 0.513778 0 0 1 0 0 upstream intergenic ncRNA_intronic LOC101927081 NOVA1(dist=275312),MIR4307(dist=35576) ENSG00000258081 Na Na Na Na Na Na Het;+C 279;10|12 Het;+C 684;16|26 Hom;+C 680;0|22 N N - 14 27344245 27344245 A C snp ncRNA_intronic LOC101927081 rs1950586 0.704872 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927081 NOVA1(dist=277285),MIR4307(dist=33603) ENSG00000257612,ENSG00000258081 Na Na Na Na Na Na Het;A>C 186;5|6 Het;A>C 33;6|2 Hom;A>C 256;0|7 N N - 14 27483945 27483945 A C snp ncRNA_intronic AL110292.1 rs1956043 0.367812 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927081(dist=99996),LINC00645(dist=597849) MIR4307(dist=106014),BC148262(dist=307261) ENSG00000258081 Na Na Na Na Na Na Het;A>C 271;13|10 Ref Hom;A>C 1227;0|46 N N - 14 27534046 27534046 A G snp ncRNA_intronic AL110292.1 rs7159687 0.275759 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927081(dist=150097),LINC00645(dist=547748) MIR4307(dist=156115),BC148262(dist=257160) ENSG00000258081 Na Na Na Na Na Na Het;A>G 1845;62|73 Het;A>G 1495;71|69 Hom;A>G 3792;1|143 N N - 14 28708838 28708838 A G snp intergenic LINC00645 rs8022253 0.851637 0 0 1 0 0 intergenic intergenic intergenic LINC00645(dist=599996),FOXG1-AS1(dist=485610) BC148262(dist=566413),DD413682(dist=354189) ENSG00000223164(dist=249517),ENSG00000197358(dist=24758) Na Na Na Na Na Na Het;A>G 1100;42|45 Het;A>G 696;49|34 Hom;A>G 2378;0|82 N N - 14 29247047 29247048 AT A indel ncRNA_intronic LINC01551 rs11316936 0.833866 0 0.5137 1 0 0 ncRNA_intronic intronic intronic LINC01551 C14orf23 ENSG00000186960 Na Na Na Na Na Na Het;-T 336;41|24 Het;-T 254;39|22 Hom;-T 772;2|38 N N - 14 29254955 29254955 G A snp ncRNA_exonic BC034423 rs17631065 0.170327 0 0 1 0 0 ncRNA_intronic ncRNA_exonic ncRNA_exonic LINC01551 BC034423 ENSG00000257056 Na Na Na Na Na Na Het;G>A 1510;60|65 Ref Hom;G>A 3413;2|122 N N - 14 29260980 29260980 C T snp ncRNA_intronic LINC01551 rs3783295 0.716454 0 0 1 0 0 ncRNA_intronic intronic intronic LINC01551 C14orf23 ENSG00000186960 Na Na Na Na Na Na Het;C>T 280;4|9 Het;C>T 129;8|6 Hom;C>T 220;0|7 N N - 14 29261309 29261309 A AAAC indel nonframeshift substitution 346_346delinsAAAC C14orf23 rs56025822 0.421725 0 0.4287 1 0 0 ncRNA_exonic exonic exonic LINC01551 C14orf23 ENSG00000186960 Na nonframeshift substitution unknown Na C14orf23:uc001wqf.3:exon3:c.346_346delinsAAAC, UNKNOWN Het;+AAC 2198;49|66 Ref Hom;+AAC 3742;2|93 N N - 14 29261974 29261974 T C snp ncRNA_exonic LINC01551 rs1950192 0.861821 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01551 C14orf23(uc001wqf.3:c.*507T>C) ENSG00000186960(ENST00000399387:c.*507T>C) Na Na Na Na Na Na Het;T>C 2880;122|120 Het;T>C 2687;91|111 Hom;T>C 5692;0|194 N N - 14 29855869 29855877 AAGATAGAT A indel intergenic LINC01551 rs150432149 0 0 0 1 0 0 intergenic intergenic intergenic LINC01551(dist=591869),MIR548AI(dist=40240) C14orf23(dist=591869),MIR548AI(dist=40240) ENSG00000257522(dist=5368),ENSG00000258107(dist=3675) Na Na Na Na Na Na Het;-AGATAGAT 86;1|3 Ref Hom;-AGATAGAT 188;0|5 N N - 14 30294886 30294886 G A snp intronic PRKD1 Prkd1 ENSG00000184304 protein kinase D1 chr14:30045687-30661104 PRKD1 is a serine/threonine kinase that regulates a variety of cellular functions, including membrane receptor signaling, transport at the Golgi, protection from oxidative stress at the mitochondria, gene transcription, and regulation of cell shape, motility, and adhesion (summary by Eiseler et al., 2009 [PubMed 19329994]).[supplied by OMIM, Nov 2010] Narcolepsy; Body Mass Index; Cell Adhesion Molecules; Potassium; Blood Pressure Mice homozygous for a knock-out allele exhibit partial embryonic lethality. Mice homozygous for a knock-in allele display partial embryonic and perinatal lethality. Sphingolipid de novo biosynthesis GO:0001525;angiogenesis;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IGI|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0007030;Golgi organization;IMP|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007265;Ras protein signal transduction;IMP|GO:0007399;nervous system development;IEA|GO:0008283;cell proliferation;TAS|GO:0010508;positive regulation of autophagy;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010837;regulation of keratinocyte proliferation;ISS|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030154;cell differentiation;IEA|GO:0031647;regulation of protein stability;IMP|GO:0032793;positive regulation of CREB transcription factor activity;IGI|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IGI|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0035556;intracellular signal transduction;IMP|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IMP|GO:0038033;positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway;IGI|GO:0042993;positive regulation of transcription factor import into nucleus;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IGI|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IC|GO:0045087;innate immune response;IEA|GO:0045669;positive regulation of osteoblast differentiation;ISS|GO:0045766;positive regulation of angiogenesis;IGI|GO:0045806;negative regulation of endocytosis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IMP|GO:0048193;Golgi vesicle transport;ISS|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IEA|GO:0060548;negative regulation of cell death;IMP|GO:0071447;cellular response to hydroperoxide;IMP|GO:0089700;protein kinase D signaling;IGI|GO:1901727;positive regulation of histone deacetylase activity;IGI|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP|GO:2001044;regulation of integrin-mediated signaling pathway;TAS GO:0000421;autophagosome membrane;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004697;protein kinase C activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRKD1 https://hpo.jax.org/app/browse/search?q=PRKD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605435 http://www.informatics.jax.org/searchtool/Search.do?query=PRKD1&submit=Quick%0D%15177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKD1 rs12882145 0.300519 0 0 1 0 0 intronic intronic intronic PRKD1 PRKD1 ENSG00000184304 Na Na Na Na Na Na Het;G>A 488;20|23 Ref Hom;G>A 2089;0|76 N N - 14 30546798 30546798 G A snp ncRNA_intronic AL133372.2 rs377400 0.471645 0 0 1 0 0 intergenic intergenic ncRNA_intronic PRKD1(dist=149899),G2E3(dist=481531) PRKD1(dist=149899),G2E3(dist=481531) ENSG00000248975 Na Na Na Na Na Na Het;G>A 963;43|46 Het;G>A 998;56|48 Hom;G>A 2201;1|82 N N - 14 30746774 30746774 C T snp ncRNA_intronic AL133372.2 rs17096484 0.560903 0 0 1 0 0 intergenic intergenic ncRNA_intronic PRKD1(dist=349875),G2E3(dist=281555) PRKD1(dist=349875),G2E3(dist=281555) ENSG00000248975 Na Na Na Na Na Na Het;C>T 116;15|7 Ref Hom;C>T 635;2|27 N N - 14 31617880 31617880 A C snp intronic HECTD1 Hectd1 ENSG00000092148 HECT domain E3 ubiquitin protein ligase 1 chr14:31569318-31677010 Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects. Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HECTD1 https://www.uniprot.org/uniprot/Q9ULT8 http://www.informatics.jax.org/searchtool/Search.do?query=HECTD1&submit=Quick%0D%2183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HECTD1 rs11845860 0.292931 0.2229 0.1862 1 0 0 intronic intronic intronic HECTD1 HECTD1 ENSG00000092148 Na Na Na Na Na Na Het;A>C 258;12|12 Ref Hom;A>C 344;1|14 N N - 14 32480494 32480494 A G snp intronic AL352984.1 rs1958912 0.488618 0 0 1 0 0 intergenic intergenic intronic NUBPL(dist=150065),ARHGAP5-AS1(dist=64131) NUBPL(dist=150065),ARHGAP5-AS1(dist=64131) ENSG00000258386 Na Na Na Na Na Na Het;A>G 298;15|14 Het;A>G 141;11|7 Hom;A>G 251;0|10 N N - 14 33147414 33147414 C G snp intronic AKAP6 Akap6 ENSG00000151320 A-kinase anchoring protein 6 chr14:32798479-33300567 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] Asthma; Anorexia Nervosa; Narcolepsy; Body Mass Index; Coronary Artery Disease; Body Weight Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. GO:0001508;action potential;IC|GO:0006605;protein targeting;NAS|GO:0010738;regulation of protein kinase A signaling;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IC|GO:0019933;cAMP-mediated signaling;NAS|GO:0030307;positive regulation of cell growth;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;ISS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;ISS|GO:0051533;positive regulation of NFAT protein import into nucleus;ISS|GO:0060306;regulation of membrane repolarization;IDA|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;ISS|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;ISS|GO:0071320;cellular response to cAMP;IDA|GO:0071345;cellular response to cytokine stimulus;ISS|GO:1901381;positive regulation of potassium ion transmembrane transport;IDA|GO:1902261;positive regulation of delayed rectifier potassium channel activity;IDA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;ISS|GO:0005901;caveola;ISS|GO:0014701;junctional sarcoplasmic reticulum membrane;ISS|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030315;T-tubule;ISS|GO:0031965;nuclear membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0032947;protein complex scaffold;ISS|GO:0034237;protein kinase A regulatory subunit binding;ISS|GO:0043495;protein anchor;ISS|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/AKAP6 https://www.uniprot.org/uniprot/Q13023 https://www.ncbi.nlm.nih.gov/omim/?term=604691 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP6&submit=Quick%0D%9401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP6 rs1950697 0.73123 0 0 1 0 0 intronic intronic intronic AKAP6 AKAP6 ENSG00000151320 Na Na Na Na Na Na Het;C>G 240;2|7 Het;C>G 66;7|3 Hom;C>G 304;0|8 N N - 14 33165182 33165182 C T snp intronic AKAP6 Akap6 ENSG00000151320 A-kinase anchoring protein 6 chr14:32798479-33300567 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] Asthma; Anorexia Nervosa; Narcolepsy; Body Mass Index; Coronary Artery Disease; Body Weight Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. GO:0001508;action potential;IC|GO:0006605;protein targeting;NAS|GO:0010738;regulation of protein kinase A signaling;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IC|GO:0019933;cAMP-mediated signaling;NAS|GO:0030307;positive regulation of cell growth;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;ISS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;ISS|GO:0051533;positive regulation of NFAT protein import into nucleus;ISS|GO:0060306;regulation of membrane repolarization;IDA|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;ISS|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;ISS|GO:0071320;cellular response to cAMP;IDA|GO:0071345;cellular response to cytokine stimulus;ISS|GO:1901381;positive regulation of potassium ion transmembrane transport;IDA|GO:1902261;positive regulation of delayed rectifier potassium channel activity;IDA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;ISS|GO:0005901;caveola;ISS|GO:0014701;junctional sarcoplasmic reticulum membrane;ISS|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030315;T-tubule;ISS|GO:0031965;nuclear membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0032947;protein complex scaffold;ISS|GO:0034237;protein kinase A regulatory subunit binding;ISS|GO:0043495;protein anchor;ISS|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/AKAP6 https://www.uniprot.org/uniprot/Q13023 https://www.ncbi.nlm.nih.gov/omim/?term=604691 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP6&submit=Quick%0D%9401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP6 rs3742929 0.721446 0.6043 0.6117 1 0 0 intronic intronic intronic AKAP6 AKAP6 ENSG00000151320 Na Na Na Na Na Na Het;C>T 689;38|34 Het;C>T 877;33|39 Hom;C>T 2130;0|77 N N - 14 33292743 33292743 A C snp synonymous SNV A5724C G1908G aliphatic,neutral aliphatic,neutral AKAP6 Akap6 ENSG00000151320 A-kinase anchoring protein 6 chr14:32798479-33300567 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] Asthma; Anorexia Nervosa; Narcolepsy; Body Mass Index; Coronary Artery Disease; Body Weight Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. GO:0001508;action potential;IC|GO:0006605;protein targeting;NAS|GO:0010738;regulation of protein kinase A signaling;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IC|GO:0019933;cAMP-mediated signaling;NAS|GO:0030307;positive regulation of cell growth;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;ISS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;ISS|GO:0051533;positive regulation of NFAT protein import into nucleus;ISS|GO:0060306;regulation of membrane repolarization;IDA|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;ISS|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;ISS|GO:0071320;cellular response to cAMP;IDA|GO:0071345;cellular response to cytokine stimulus;ISS|GO:1901381;positive regulation of potassium ion transmembrane transport;IDA|GO:1902261;positive regulation of delayed rectifier potassium channel activity;IDA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;ISS|GO:0005901;caveola;ISS|GO:0014701;junctional sarcoplasmic reticulum membrane;ISS|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030315;T-tubule;ISS|GO:0031965;nuclear membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0032947;protein complex scaffold;ISS|GO:0034237;protein kinase A regulatory subunit binding;ISS|GO:0043495;protein anchor;ISS|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/AKAP6 https://www.uniprot.org/uniprot/Q13023 https://www.ncbi.nlm.nih.gov/omim/?term=604691 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP6&submit=Quick%0D%9401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP6 rs2239647 0.711262 0.6506 0.6078 1 0 0 exonic exonic exonic AKAP6 AKAP6 ENSG00000151320 synonymous SNV synonymous SNV unknown AKAP6:NM_004274:exon13:c.A5724C:p.G1908G, AKAP6:uc001wrq.3:exon13:c.A5724C:p.G1908G, UNKNOWN Het;A>C 2217;69|91 Ref Hom;A>C 5210;0|180 N N - 14 33293122 33293122 A G snp nonsynonymous SNV A6103G N2035D polar,hydrophilic,neutral polar,hydrophilic,charged(-) AKAP6 Akap6 ENSG00000151320 A-kinase anchoring protein 6 chr14:32798479-33300567 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] Asthma; Anorexia Nervosa; Narcolepsy; Body Mass Index; Coronary Artery Disease; Body Weight Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. GO:0001508;action potential;IC|GO:0006605;protein targeting;NAS|GO:0010738;regulation of protein kinase A signaling;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IC|GO:0019933;cAMP-mediated signaling;NAS|GO:0030307;positive regulation of cell growth;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;ISS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;ISS|GO:0051533;positive regulation of NFAT protein import into nucleus;ISS|GO:0060306;regulation of membrane repolarization;IDA|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;ISS|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;ISS|GO:0071320;cellular response to cAMP;IDA|GO:0071345;cellular response to cytokine stimulus;ISS|GO:1901381;positive regulation of potassium ion transmembrane transport;IDA|GO:1902261;positive regulation of delayed rectifier potassium channel activity;IDA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;ISS|GO:0005901;caveola;ISS|GO:0014701;junctional sarcoplasmic reticulum membrane;ISS|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030315;T-tubule;ISS|GO:0031965;nuclear membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0032947;protein complex scaffold;ISS|GO:0034237;protein kinase A regulatory subunit binding;ISS|GO:0043495;protein anchor;ISS|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/AKAP6 https://www.uniprot.org/uniprot/Q13023 https://www.ncbi.nlm.nih.gov/omim/?term=604691 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP6&submit=Quick%0D%9401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP6 rs1051695 0.710264 0.6394 0.5964 0.08 1 13 exonic exonic exonic AKAP6 AKAP6 ENSG00000151320 nonsynonymous SNV nonsynonymous SNV unknown AKAP6:NM_004274:exon13:c.A6103G:p.N2035D, AKAP6:uc001wrq.3:exon13:c.A6103G:p.N2035D, UNKNOWN Het;A>G 732;42|31 Ref Hom;A>G 3190;0|115 N N - 14 35099099 35099099 A G snp intronic SNX6 Snx6 ENSG00000129515 sorting nexin 6 chr14:35030300-35099389 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Mice homozygous for a conditional allele activated in neurons exhibit impaired spatial learning and memory, decreased dendritic spine density in CA1 neurons, and reduced AMPA-mediated eEPSCs. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0006897;endocytosis;IBA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;NAS|GO:0015031;protein transport;IEA|GO:0016050;vesicle organization;IBA|GO:0016241;regulation of macroautophagy;NAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042147;retrograde transport, endosome to Golgi;NAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005622;intracellular;NAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0030904;retromer complex;IDA|GO:0030905;retromer, tubulation complex;NAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IDA|GO:0097422;tubular endosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0034452;dynactin binding;IDA|GO:0034713;type I transforming growth factor beta receptor binding;IEA|GO:0035091;phosphatidylinositol binding;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SNX6 https://www.uniprot.org/uniprot/Q9UNH7 https://www.ncbi.nlm.nih.gov/omim/?term=606098 http://www.informatics.jax.org/searchtool/Search.do?query=SNX6&submit=Quick%0D%6260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX6 rs11847568 0.739217 0.6872 0.6928 1 0 0 intronic intronic intronic SNX6 SNX6 ENSG00000129515 Na Na Na Na Na Na Het;A>G 216;16|11 Het;A>G 233;6|12 Hom;A>G 379;0|14 N N - 14 35099391 35099391 A AGCGGG indel upstream SNX6 Snx6 ENSG00000129515 sorting nexin 6 chr14:35030300-35099389 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Mice homozygous for a conditional allele activated in neurons exhibit impaired spatial learning and memory, decreased dendritic spine density in CA1 neurons, and reduced AMPA-mediated eEPSCs. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IMP|GO:0006897;endocytosis;IBA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;NAS|GO:0015031;protein transport;IEA|GO:0016050;vesicle organization;IBA|GO:0016241;regulation of macroautophagy;NAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042147;retrograde transport, endosome to Golgi;NAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005622;intracellular;NAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0030904;retromer complex;IDA|GO:0030905;retromer, tubulation complex;NAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IDA|GO:0097422;tubular endosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0034452;dynactin binding;IDA|GO:0034713;type I transforming growth factor beta receptor binding;IEA|GO:0035091;phosphatidylinositol binding;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SNX6 https://www.uniprot.org/uniprot/Q9UNH7 https://www.ncbi.nlm.nih.gov/omim/?term=606098 http://www.informatics.jax.org/searchtool/Search.do?query=SNX6&submit=Quick%0D%6260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX6 rs201601692 0.267173 0.1518 0 1 0 0 upstream upstream upstream SNX6 SNX6 ENSG00000129515 Na Na Na Na Na Na Het;+GCGGG 107;1|4 Ref Hom;+GCGGG 278;0|7 N N - 14 35182406 35182409 GATA G indel intronic CFL2 Cfl2 ENSG00000165410 cofilin 2 chr14:35179593-35184029 This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] NEMALINE MYOPATHY 7 Mice homozygous for a knock-out allele exhibit postnatal growth retardation and lethality associated with muscle weakness and skeletal muscle fiber degeneration. GO:0007015;actin filament organization;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0030042;actin filament depolymerization;IDA|GO:0030043;actin filament fragmentation;IEA|GO:0030836;positive regulation of actin filament depolymerization;IMP|GO:0045214;sarcomere organization;IEA|GO:0046716;muscle cell cellular homeostasis;IEA GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016363;nuclear matrix;IEA|GO:0030018;Z disc;IDA|GO:0031674;I band;IDA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/CFL2 https://hpo.jax.org/app/browse/search?q=CFL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601443 http://www.informatics.jax.org/searchtool/Search.do?query=CFL2&submit=Quick%0D%11533ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFL2 rs35219728 0.515176 0.4849 0 1 0 0 intronic intronic intronic CFL2 CFL2 ENSG00000165410 Na Na Na Na Na Na Het;-ATA 848;17|24 Ref Hom;-ATA 1808;0|41 N N - 14 35409701 35409701 A T snp ncRNA_exonic IGBP1P1 rs712315 0.701078 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic IGBP1P1 IGBP1P1(uc010tpo.2:c.*160A>T) ENSG00000258704 Na Na Na Na Na Na Het;A>T 744;59|43 Het;A>T 660;41|37 Hom;A>T 1688;0|67 N N - 14 35476673 35476673 G A snp intronic SRP54 Srp54b ENSG00000100883 signal recognition particle 54 chr14:35451163-35498773 Tobacco Use Disorder SRP-dependent cotranslational protein targeting to membrane GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006616;SRP-dependent cotranslational protein targeting to membrane, translocation;ISS|GO:0006617;SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;ISS|GO:0042493;response to drug;IDA|GO:0045047;protein targeting to ER;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;IDA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0048500;signal recognition particle;IEA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0008144;drug binding;IDA|GO:0008312;7S RNA binding;IDA|GO:0019003;GDP binding;IDA|GO:0030942;endoplasmic reticulum signal peptide binding;IDA|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRP54 https://www.uniprot.org/uniprot/P61011 https://hpo.jax.org/app/browse/search?q=SRP54&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604857 http://www.informatics.jax.org/searchtool/Search.do?query=SRP54&submit=Quick%0D%2610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP54 rs28456062 0.704273 0 0 1 0 0 intronic intronic intronic SRP54 SRP54 ENSG00000100883 Na Na Na Na Na Na Het;G>A 574;36|24 Het;G>A 318;22|14 Hom;G>A 1568;0|51 N N - 14 35477785 35477785 G A snp intronic SRP54 Srp54b ENSG00000100883 signal recognition particle 54 chr14:35451163-35498773 Tobacco Use Disorder SRP-dependent cotranslational protein targeting to membrane GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006616;SRP-dependent cotranslational protein targeting to membrane, translocation;ISS|GO:0006617;SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;ISS|GO:0042493;response to drug;IDA|GO:0045047;protein targeting to ER;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;IDA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0048500;signal recognition particle;IEA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0008144;drug binding;IDA|GO:0008312;7S RNA binding;IDA|GO:0019003;GDP binding;IDA|GO:0030942;endoplasmic reticulum signal peptide binding;IDA|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRP54 https://www.uniprot.org/uniprot/P61011 https://hpo.jax.org/app/browse/search?q=SRP54&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604857 http://www.informatics.jax.org/searchtool/Search.do?query=SRP54&submit=Quick%0D%2610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP54 rs1712351 0.805112 0.8439 0.8054 1 0 0 intronic intronic intronic SRP54 SRP54 ENSG00000100883 Na Na Na Na Na Na Het;G>A 385;14|14 Het;G>A 321;12|14 Hom;G>A 603;0|20 N N - 14 35515606 35515608 TGG T indel UTR5 -133_-131delinsT FAM177A1 1700047I17Rik2 ENSG00000151327 family with sequence similarity 177 member A1 chr14:35514113-35582336 Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; Waist Circumference; Body Weights and Measures http://www.genecards.org/index.php?path=/Search/keyword/FAM177A1 https://www.uniprot.org/uniprot/Q8N128 http://www.informatics.jax.org/searchtool/Search.do?query=FAM177A1&submit=Quick%0D%9403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM177A1 rs4007475 0 0 0 1 0 0 UTR5 intronic UTR5 FAM177A1(NM_001289022:c.-133_-131delinsT) FAM177A1 ENSG00000151327(ENST00000382406:c.-133_-131delinsT) Na Na Na Na Na Na Het;-GG 1375;17|35 Het;-GG 824;7|21 Hom;-GG 1853;0|42 N N - 14 35576458 35576458 A C snp ncRNA_intronic AK128559 rs10132769 0.416733 0.4799 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic LOC101927178 AK128559 ENSG00000092020,ENSG00000151327 Na Na Na Na Na Na Het;A>C 272;7|11 Het;A>C 121;9|7 Hom;A>C 652;0|23 N N - 14 36523318 36523318 C G snp ncRNA_intronic AL133304.3 rs17103909 0.116014 0 0 1 0 0 intergenic intergenic ncRNA_intronic BRMS1L(dist=182149),LINC00609(dist=16315) BRMS1L(dist=182149),LINC00609(dist=16315) ENSG00000258342 Na Na Na Na Na Na Het;C>G 255;3|10 Ref Hom;C>G 297;0|11 N N - 14 36605068 36605070 GAT G indel ncRNA_exonic PTCSC3 rs141454268 0 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_intronic PTCSC3 LINC00609 ENSG00000257585 Na Na Na Na Na Na Het;-AT 501;28|23 Het;-AT 999;43|36 Hom;-AT 1703;4|67 N N - 14 36633415 36633415 C T snp ncRNA_exonic LINC00609 rs1169148 0.580471 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00609 LINC00609 ENSG00000257585 Na Na Na Na Na Na Het;C>T 1432;91|67 Ref Hom;C>T 5025;1|183 N N - 14 36634225 36634225 G T snp ncRNA_intronic LINC00609 rs1169149 0.585463 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00609,PTCSC3 LINC00609 ENSG00000257585,ENSG00000259104 Na Na Na Na Na Na Het;G>T 157;5|7 Ref Hom;G>T 583;0|17 N N - 14 36989596 36989596 A G snp ncRNA_intronic BX161496 rs56249733 0.501797 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NKX2-1-AS1 BX161496 ENSG00000253563 Na Na Na Na Na Na Het;A>G 183;9|7 Ref Hom;A>G 307;0|9 N N - 14 37382792 37382792 A G snp intronic SLC25A21 Slc25a21 ENSG00000183032 solute carrier family 25 member 21 chr14:37147636-37642071 SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004] Cholesterol; Asthma; Celiac Disease|; Hemoglobins; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Lysine catabolism GO:0006554;lysine catabolic process;TAS|GO:0006810;transport;IEA|GO:0006835;dicarboxylic acid transport;IBA|GO:0006839;mitochondrial transport;IBA|GO:0015742;alpha-ketoglutarate transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005310;dicarboxylic acid transmembrane transporter activity;IBA|GO:0015139;alpha-ketoglutarate transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A21 https://www.ncbi.nlm.nih.gov/omim/?term=607571 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A21&submit=Quick%0D%14905ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A21 rs712394 0.359225 0 0 1 0 0 intronic intronic intronic SLC25A21 SLC25A21 ENSG00000183032 Na Na Na Na Na Na Het;A>G 493;26|21 Het;A>G 809;13|33 Hom;A>G 957;0|32 N N - 14 37567927 37567959 TAGATAGATAGATAGATAGATAGATAGACAGAC T indel intronic SLC25A21 Slc25a21 ENSG00000183032 solute carrier family 25 member 21 chr14:37147636-37642071 SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004] Cholesterol; Asthma; Celiac Disease|; Hemoglobins; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Lysine catabolism GO:0006554;lysine catabolic process;TAS|GO:0006810;transport;IEA|GO:0006835;dicarboxylic acid transport;IBA|GO:0006839;mitochondrial transport;IBA|GO:0015742;alpha-ketoglutarate transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005310;dicarboxylic acid transmembrane transporter activity;IBA|GO:0015139;alpha-ketoglutarate transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A21 https://www.ncbi.nlm.nih.gov/omim/?term=607571 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A21&submit=Quick%0D%14905ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A21 rs71124790 0 0 0 1 0 0 intronic intronic intronic SLC25A21 SLC25A21 ENSG00000183032 Na Na Na Na Na Na Het;-AGATAGATAGATAGATAGATAGATAGACAGAC 277;20|10 Het;-AGATAGATAGATAGATAGATAGATAGACAGAC 324;13|10 Hom;-AGATAGATAGATAGATAGATAGATAGACAGAC 1245;2|32 N N - 14 40401266 40401266 C T snp intergenic FBXO33 Fbxo33 ENSG00000165355 F-box protein 33 chr14:39866873-39901704 This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] Intercellular Adhesion Molecule-1; Heart Failure; Asthma; Electrocardiography; Cholesterol, HDL; Respiratory Function Tests; Waist-Hip Ratio; Insulin; Carotid Artery Diseases; Tobacco Use Disorder; Neuroblastoma; Platelet Count; Uric Acid; Waist Circumference; Blood Pressure; Echocardiography; Anticoagulants GO:0016567;protein ubiquitination;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXO33 https://www.ncbi.nlm.nih.gov/omim/?term=609103 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO33&submit=Quick%0D%11523ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO33 rs8012860 0.433506 0 0 1 0 0 intergenic intergenic intergenic FBXO33(dist=499562),LOC644919(dist=1022650) FBXO33(dist=499562),BX248273(dist=1022650) ENSG00000258526(dist=418282),ENSG00000258418(dist=454190) Na Na Na Na Na Na Het;C>T 49;1|3 Het;C>T 115;3|4 Hom;C>T 419;0|11 N N - 14 40751314 40751314 G A snp intergenic FBXO33 Fbxo33 ENSG00000165355 F-box protein 33 chr14:39866873-39901704 This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] Intercellular Adhesion Molecule-1; Heart Failure; Asthma; Electrocardiography; Cholesterol, HDL; Respiratory Function Tests; Waist-Hip Ratio; Insulin; Carotid Artery Diseases; Tobacco Use Disorder; Neuroblastoma; Platelet Count; Uric Acid; Waist Circumference; Blood Pressure; Echocardiography; Anticoagulants GO:0016567;protein ubiquitination;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXO33 https://www.ncbi.nlm.nih.gov/omim/?term=609103 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO33&submit=Quick%0D%11523ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO33 rs9805993 0.29373 0 0 1 0 0 intergenic intergenic intergenic FBXO33(dist=849610),LOC644919(dist=672602) FBXO33(dist=849610),BX248273(dist=672602) ENSG00000258526(dist=768330),ENSG00000258418(dist=104142) Na Na Na Na Na Na Het;G>A 118;2|5 Ref Hom;G>A 315;0|12 N N - 14 40751329 40751329 A T snp intergenic FBXO33 Fbxo33 ENSG00000165355 F-box protein 33 chr14:39866873-39901704 This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] Intercellular Adhesion Molecule-1; Heart Failure; Asthma; Electrocardiography; Cholesterol, HDL; Respiratory Function Tests; Waist-Hip Ratio; Insulin; Carotid Artery Diseases; Tobacco Use Disorder; Neuroblastoma; Platelet Count; Uric Acid; Waist Circumference; Blood Pressure; Echocardiography; Anticoagulants GO:0016567;protein ubiquitination;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXO33 https://www.ncbi.nlm.nih.gov/omim/?term=609103 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO33&submit=Quick%0D%11523ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO33 rs9805990 0.29393 0 0 1 0 0 intergenic intergenic intergenic FBXO33(dist=849625),LOC644919(dist=672587) FBXO33(dist=849625),BX248273(dist=672587) ENSG00000258526(dist=768345),ENSG00000258418(dist=104127) Na Na Na Na Na Na Het;A>T 119;4|6 Ref Hom;A>T 370;0|15 N N - 14 43373825 43373826 GA G indel intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs113084287 0.249002 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1000073),FSCB(dist=1599528) LRFN5(dist=1000073),FSCB(dist=1599528) ENSG00000258934(dist=96510),ENSG00000259047(dist=84578) Na Na Na Na Na Na Het;-A 188;16|12 Ref Hom;-A 298;0|13 N N - 14 43423399 43423399 G A snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs8019459 0.235423 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1049647),FSCB(dist=1549955) LRFN5(dist=1049647),FSCB(dist=1549955) ENSG00000258934(dist=146084),ENSG00000259047(dist=35005) Na Na Na Na Na Na Het;G>A 152;8|6 Ref Hom;G>A 339;0|10 N N - 14 43573755 43573755 C T snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs28676703 0.101438 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1200003),FSCB(dist=1399599) LRFN5(dist=1200003),FSCB(dist=1399599) ENSG00000259047(dist=115069),ENSG00000258406(dist=170272) Na Na Na Na Na Na Het;C>T 417;34|22 Het;C>T 945;28|41 Hom;C>T 2223;0|88 N N - 14 43770126 43770126 G A snp downstream HNRNPUP1 rs7147019 0.461661 0 0 1 0 0 intergenic intergenic downstream LRFN5(dist=1396374),FSCB(dist=1203228) LRFN5(dist=1396374),FSCB(dist=1203228) ENSG00000259051 Na Na Na Na Na Na Het;G>A 47;9|6 Het;G>A 57;5|3 Hom;G>A 115;0|4 N N - 14 43923686 43923686 C T snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs1586993 0.497404 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1549934),FSCB(dist=1049668) LRFN5(dist=1549934),FSCB(dist=1049668) ENSG00000259051(dist=153888),ENSG00000258828(dist=86400) Na Na Na Na Na Na Het;C>T 392;18|18 Het;C>T 214;27|13 Hom;C>T 1073;0|41 N N - 14 44002443 44002443 G C snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs10144459 0.399361 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1628691),FSCB(dist=970911) LRFN5(dist=1628691),FSCB(dist=970911) ENSG00000259051(dist=232645),ENSG00000258828(dist=7643) Na Na Na Na Na Na Het;G>C 358;1|10 Ref Hom;G>C 861;0|20 N N - 14 44002454 44002454 T C snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs112321057 0.140375 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1628702),FSCB(dist=970900) LRFN5(dist=1628702),FSCB(dist=970900) ENSG00000259051(dist=232656),ENSG00000258828(dist=7632) Na Na Na Na Na Na Het;T>C 380;1|10 Ref Hom;T>C 935;0|23 N N - 14 44002488 44002488 A T snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs10144308 0.429712 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1628736),FSCB(dist=970866) LRFN5(dist=1628736),FSCB(dist=970866) ENSG00000259051(dist=232690),ENSG00000258828(dist=7598) Na Na Na Na Na Na Het;A>T 253;1|11 Ref Hom;A>T 609;0|23 N N - 14 44023834 44023834 A G snp intergenic LRFN5 Lrfn5 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 chr14:42076773-42373752 This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016] Cholesterol, HDL; Tobacco Use Disorder GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRFN5 https://www.ncbi.nlm.nih.gov/omim/?term=612811 http://www.informatics.jax.org/searchtool/Search.do?query=LRFN5&submit=Quick%0D%11527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRFN5 rs10400703 0.330272 0 0 1 0 0 intergenic intergenic intergenic LRFN5(dist=1650082),FSCB(dist=949520) LRFN5(dist=1650082),FSCB(dist=949520) ENSG00000258828(dist=12805),ENSG00000258387(dist=37511) Na Na Na Na Na Na Het;A>G 939;37|40 Het;A>G 591;31|27 Hom;A>G 3275;3|123 N N - 14 44623998 44623998 C T snp ncRNA_intronic LINC02307 rs58227190 0.404752 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),FSCB(dist=349356) NONE(dist=NONE),FSCB(dist=349356) ENSG00000258969 Na Na Na Na Na Na Het;C>T 39;2|2 Ref Hom;C>T 98;0|4 N N - 14 45513743 45513743 C CA indel intronic FAM179B Fam179b rs11393574 0.854034 0 0 1 0 0 intronic intronic intronic FAM179B FAM179B ENSG00000198718 Na Na Na Na Na Na Het;+A 106;1|7 Ref Hom;+A 168;0|8 N N - 14 46564668 46564668 A G snp ncRNA_intronic LINC00871 rs7401253 0.477835 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;A>G 130;9|7 Het;A>G 211;13|9 Hom;A>G 592;0|21 N N - 14 46616563 46616563 G C snp ncRNA_intronic LINC00871 rs4906608 0.360224 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;G>C 175;16|10 Het;G>C 626;50|33 Hom;G>C 2277;0|88 N N - 14 46907531 46907531 G A snp ncRNA_intronic LINC00871 rs2817524 0.370807 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;G>A 69;6|3 Ref Hom;G>A 336;0|9 N N - 14 46919234 46919234 T A snp ncRNA_intronic LINC00871 rs1760999 0.515375 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;T>A 480;21|19 Ref Hom;T>A 690;0|24 N N - 14 46940639 46940639 A G snp ncRNA_exonic LINC00871 rs1955262 0.247404 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;A>G 478;35|24 Ref Hom;A>G 5116;0|190 N N - 14 46940867 46940867 G A snp ncRNA_intronic LINC00871 rs12435397 0.27476 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;G>A 56;6|3 Ref Hom;G>A 267;0|8 N N - 14 46970893 46970893 T TCTAA indel ncRNA_exonic LINC00871 rs142854507 0.297125 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00871 LINC00871 ENSG00000258700 Na Na Na Na Na Na Het;+CTAA 847;22|20 Ref Hom;+CTAA 3161;0|69 N N - 14 47770498 47770502 CCACA C indel intronic MDGA2 Mdga2 ENSG00000139915 MAM domain containing glycosylphosphatidylinositol anchor 2 chr14:47311134-48143999 Exercise Test; Lipids; Lipoproteins, VLDL; Neurotic Disorders; Autism; Sexual Dysfunctions, Psychological; Type 2 Diabetes| edema | rosiglitazone; Phosphorus; null; Hemoglobins; Triglycerides; Arthritis, Rheumatoid; Blood Viscosity; Blood Pressure; Cholesterol, LDL; Tobacco Use Disorder; systemic lupus erythematosus Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0021522;spinal cord motor neuron differentiation;ISS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MDGA2 https://www.uniprot.org/uniprot/Q7Z553 https://www.ncbi.nlm.nih.gov/omim/?term=611128 http://www.informatics.jax.org/searchtool/Search.do?query=MDGA2&submit=Quick%0D%7955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MDGA2 rs148287466 0 0 0 1 0 0 intronic intronic intronic MDGA2 MDGA2 ENSG00000139915,ENSG00000272781 Na Na Na Na Na Na Het;-CACA 153;1|4 Ref Hom;-CACA 48;0|2 N N - 14 48359064 48359064 G A snp intergenic LINC00648 rs883159 0.232628 0 0 1 0 0 intergenic intergenic intergenic LINC00648(dist=94847),RPS29(dist=1684326) LINC00648(dist=94847),SNORD112(dist=1051586) ENSG00000259117(dist=87660),ENSG00000258639(dist=155620) Na Na Na Na Na Na Het;G>A 53;2|4 Ref Hom;G>A 208;0|7 N N - 14 49026247 49026247 C G snp intergenic LINC00648 rs12432111 0.0914537 0 0 1 0 0 intergenic intergenic intergenic LINC00648(dist=762030),RPS29(dist=1017143) LINC00648(dist=762030),SNORD112(dist=384403) ENSG00000251731(dist=62980),ENSG00000258381(dist=262316) Na Na Na Na Na Na Het;C>G 93;1|4 Het;C>G 41;6|4 Hom;C>G 206;0|8 N N - 14 50458127 50458127 T C snp ncRNA_exonic LINC01588 rs11621053 0.019369 0 0 1 0 0 ncRNA_exonic intronic intronic LINC01588 C14orf182 ENSG00000214900 Na Na Na Na Na Na Het;T>C 1155;50|51 Ref Hom;T>C 3846;0|140 N N - 14 51057727 51057727 G A snp synonymous SNV G351A E117E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ATL1 Atl1 ENSG00000198513 atlastin GTPase 1 chr14:50999227-51099786 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; multiple sclerosis; Spastic Paraplegia, Hereditary; Cognitive performance ; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Psychomotor Performance; Body Mass Index Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. GO:0007029;endoplasmic reticulum organization;IDA|GO:0007409;axonogenesis;ISS|GO:0051260;protein homooligomerization;IDA GO:0000137;Golgi cis cisterna;ISS|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0071782;endoplasmic reticulum tubular network;ISS GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATL1 https://hpo.jax.org/app/browse/search?q=ATL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606439 http://www.informatics.jax.org/searchtool/Search.do?query=ATL1&submit=Quick%0D%16911ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATL1 rs1060197 0.821486 0.7959 0.7633 1 0 0 exonic exonic exonic ATL1 ATL1 ENSG00000198513 synonymous SNV synonymous SNV unknown ATL1:NM_001127713:exon4:c.G351A:p.E117E,ATL1:NM_181598:exon3:c.G351A:p.E117E,ATL1:NM_015915:exon3:c.G351A:p.E117E, ATL1:uc001wyf.4:exon3:c.G351A:p.E117E,ATL1:uc021rsw.1:exon3:c.G351A:p.E117E,ATL1:uc001wye.4:exon3:c.G351A:p.E117E,ATL1:uc001wyd.4:exon4:c.G351A:p.E117E,ATL1:uc021rsx.1:exon3:c.G351A:p.E117E, UNKNOWN Het;G>A 1115;75|55 Ref Hom;G>A 2594;0|98 N N - 14 51058234 51058234 G T snp intronic ATL1 Atl1 ENSG00000198513 atlastin GTPase 1 chr14:50999227-51099786 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; multiple sclerosis; Spastic Paraplegia, Hereditary; Cognitive performance ; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Psychomotor Performance; Body Mass Index Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. GO:0007029;endoplasmic reticulum organization;IDA|GO:0007409;axonogenesis;ISS|GO:0051260;protein homooligomerization;IDA GO:0000137;Golgi cis cisterna;ISS|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0071782;endoplasmic reticulum tubular network;ISS GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATL1 https://hpo.jax.org/app/browse/search?q=ATL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606439 http://www.informatics.jax.org/searchtool/Search.do?query=ATL1&submit=Quick%0D%16911ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATL1 rs2934684 0.821286 0.7950 0.7633 1 0 0 intronic intronic intronic ATL1 ATL1 ENSG00000198513 Na Na Na Na Na Na Het;G>T 1052;47|43 Ref Hom;G>T 1691;2|65 N N - 14 51060452 51060452 A G snp intronic ATL1 Atl1 ENSG00000198513 atlastin GTPase 1 chr14:50999227-51099786 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; multiple sclerosis; Spastic Paraplegia, Hereditary; Cognitive performance ; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Psychomotor Performance; Body Mass Index Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. GO:0007029;endoplasmic reticulum organization;IDA|GO:0007409;axonogenesis;ISS|GO:0051260;protein homooligomerization;IDA GO:0000137;Golgi cis cisterna;ISS|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0071782;endoplasmic reticulum tubular network;ISS GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATL1 https://hpo.jax.org/app/browse/search?q=ATL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606439 http://www.informatics.jax.org/searchtool/Search.do?query=ATL1&submit=Quick%0D%16911ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATL1 rs2291672 0.821685 0 0 1 0 0 intronic intronic intronic ATL1 ATL1 ENSG00000198513 Na Na Na Na Na Na Het;A>G 278;10|10 Ref Hom;A>G 301;0|9 N N - 14 51062162 51062162 G A snp intronic ATL1 Atl1 ENSG00000198513 atlastin GTPase 1 chr14:50999227-51099786 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; multiple sclerosis; Spastic Paraplegia, Hereditary; Cognitive performance ; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Psychomotor Performance; Body Mass Index Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. GO:0007029;endoplasmic reticulum organization;IDA|GO:0007409;axonogenesis;ISS|GO:0051260;protein homooligomerization;IDA GO:0000137;Golgi cis cisterna;ISS|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0071782;endoplasmic reticulum tubular network;ISS GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATL1 https://hpo.jax.org/app/browse/search?q=ATL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606439 http://www.informatics.jax.org/searchtool/Search.do?query=ATL1&submit=Quick%0D%16911ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATL1 rs3015455 0.807308 0 0 1 0 0 intronic intronic intronic ATL1 ATL1 ENSG00000198513 Na Na Na Na Na Na Het;G>A 200;1|8 Ref Hom;G>A 195;0|6 N N - 14 51107452 51107452 T C snp intronic SAV1 Sav1 ENSG00000151748 salvador family WW domain containing protein 1 chr14:51098776-51135049 WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012] Homozygotes for a null allele display fetal growth retardation and lethality, show multiple tissue hyperplasia and dysplasia due to unchecked proliferation and impaired terminal differentiation of epithelial cells, and develop hepatomas. Heterozygotes are prone to tumorigenesis and die prematurely. Signaling by Hippo GO:0001942;hair follicle development;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0035329;hippo signaling;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0046620;regulation of organ growth;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050821;protein stabilization;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060487;lung epithelial cell differentiation;IEA|GO:0060575;intestinal epithelial cell differentiation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/SAV1 https://www.uniprot.org/uniprot/Q9H4B6 https://www.ncbi.nlm.nih.gov/omim/?term=607203 http://www.informatics.jax.org/searchtool/Search.do?query=SAV1&submit=Quick%0D%9468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAV1 rs871643 0.771965 0.7541 0.7434 1 0 0 intronic intronic intronic SAV1 SAV1 ENSG00000151748 Na Na Na Na Na Na Het;T>C 987;60|42 Ref Hom;T>C 3354;0|120 N N - 14 51172219 51172219 C A snp ncRNA_exonic AL606834.1 rs10144234 0.823283 0 0 1 0 0 intergenic intergenic ncRNA_exonic SAV1(dist=37148),NIN(dist=14262) SAV1(dist=37148),NIN(dist=14262) ENSG00000258491 Na Na Na Na Na Na Het;C>A 232;7|9 Ref Hom;C>A 226;0|10 N N - 14 51204996 51204996 C T snp synonymous SNV G5637A Q1879Q polar,hydrophilic,neutral polar,hydrophilic,neutral NIN Nin ENSG00000100503 ninein chr14:51186481-51297839 This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008] Body Fat Distribution; Tobacco Use Disorder; breast cancer; pancreatic cancer; Cognitive performance GO:0034454;microtubule anchoring at centrosome;IEA|GO:0051642;centrosome localization;TAS|GO:0090222;centrosome-templated microtubule nucleation;IBA GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IMP|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0036449;microtubule minus-end;IBA|GO:0097431;mitotic spindle pole;IBA|GO:0097539;ciliary transition fiber;IBA GO:0000166;nucleotide binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NIN https://www.uniprot.org/uniprot/Q8N4C6 https://hpo.jax.org/app/browse/search?q=NIN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608684 http://www.informatics.jax.org/searchtool/Search.do?query=NIN&submit=Quick%0D%2539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NIN rs11376 0.508786 0.5779 0.5044 1 0 0 exonic exonic exonic NIN NIN ENSG00000100503 synonymous SNV synonymous SNV unknown NIN:NM_020921:exon27:c.G5637A:p.Q1879Q,NIN:NM_182946:exon27:c.G5637A:p.Q1879Q,NIN:NM_182944:exon27:c.G5637A:p.Q1879Q,NIN:NM_016350:exon26:c.G3498A:p.Q1166Q, NIN:uc001wyo.3:exon27:c.G5637A:p.Q1879Q,NIN:uc001wym.2:exon27:c.G5637A:p.Q1879Q,NIN:uc001wyk.3:exon26:c.G3498A:p.Q1166Q,NIN:uc001wyi.3:exon27:c.G5637A:p.Q1879Q, UNKNOWN Het;C>T 1012;73|48 Ref Hom;C>T 3516;2|130 N N - 14 51230431 51230433 CTT C indel intronic NIN Nin ENSG00000100503 ninein chr14:51186481-51297839 This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008] Body Fat Distribution; Tobacco Use Disorder; breast cancer; pancreatic cancer; Cognitive performance GO:0034454;microtubule anchoring at centrosome;IEA|GO:0051642;centrosome localization;TAS|GO:0090222;centrosome-templated microtubule nucleation;IBA GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IMP|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0036449;microtubule minus-end;IBA|GO:0097431;mitotic spindle pole;IBA|GO:0097539;ciliary transition fiber;IBA GO:0000166;nucleotide binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NIN https://www.uniprot.org/uniprot/Q8N4C6 https://hpo.jax.org/app/browse/search?q=NIN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608684 http://www.informatics.jax.org/searchtool/Search.do?query=NIN&submit=Quick%0D%2539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NIN rs150650334 0.527556 0 0 1 0 0 intronic intronic intronic NIN NIN ENSG00000100503 Na Na Na Na Na Na Het;-TT 117;4|6 Ref Hom;-TT 98;1|4 N N - 14 51716467 51716467 G A snp synonymous SNV G648A P216P hydrophobic,neutral hydrophobic,neutral TMX1 Tmx1 ENSG00000139921 thioredoxin related transmembrane protein 1 chr14:51706880-51722759 TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM, Mar 2008] Bilirubin; Lupus Erythematosus, Systemic; Schizophrenia No notable phenotype was detected in a high-throughput screen of homozygous mice. GO:0006457;protein folding;IBA|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003756;protein disulfide isomerase activity;IBA|GO:0015036;disulfide oxidoreductase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TMX1 https://www.uniprot.org/uniprot/Q9H3N1 https://www.ncbi.nlm.nih.gov/omim/?term=610527 http://www.informatics.jax.org/searchtool/Search.do?query=TMX1&submit=Quick%0D%7956ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMX1 rs7160810 0.711062 0.7636 0.7430 1 0 0 exonic exonic exonic TMX1 TMX1 ENSG00000139921 synonymous SNV synonymous SNV unknown TMX1:NM_030755:exon7:c.G648A:p.P216P, TMX1:uc001wza.4:exon7:c.G648A:p.P216P,TMX1:uc010aoa.3:exon7:c.G396A:p.P132P, UNKNOWN Het;G>A 718;56|36 Het;G>A 662;41|33 Hom;G>A 1312;0|52 N N - 14 52051170 52051170 G T snp ncRNA_intronic FRMD6-AS2 rs11627579 0.401757 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FRMD6-AS2 FRMD6-AS2 ENSG00000258537 Na Na Na Na Na Na Het;G>T 79;3|4 Het;G>T 34;3|2 Hom;G>T 354;0|10 N N - 14 52471017 52471017 G GAAAT indel intronic C14orf166 2700060E02Rik ENSG00000087302 chromosome 14 open reading frame 166 chr14:52456193-52471420 tRNA processing in the nucleus GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0016032;viral process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050658;RNA transport;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0072669;tRNA-splicing ligase complex;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C14orf166 https://www.uniprot.org/uniprot/Q9Y224 https://www.ncbi.nlm.nih.gov/omim/?term=610858 http://www.informatics.jax.org/searchtool/Search.do?query=C14orf166&submit=Quick%0D%1970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf166 rs34688526 0.491613 0.4282 0 1 0 0 intronic intronic intronic C14orf166 C14orf166 ENSG00000087302 Na Na Na Na Na Na Het;+AAAT 386;20|12 Ref Hom;+AAAT 653;0|15 N N - 14 52478315 52478315 A G snp synonymous SNV T3507C A1169A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NID2 Nid2 ENSG00000087303 nidogen 2 chr14:52471521-52535712 This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010] Triglycerides; pulmonary function traits (other); Coronary Artery Disease; Maximal Midexpiratory Flow Rate Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis. Laminin interactions GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0071711;basement membrane organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/NID2 https://www.uniprot.org/uniprot/Q14112 https://www.ncbi.nlm.nih.gov/omim/?term=605399 http://www.informatics.jax.org/searchtool/Search.do?query=NID2&submit=Quick%0D%1971ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NID2 rs1051069 0.690495 0.6129 0.5942 1 0 0 exonic exonic exonic NID2 NID2 ENSG00000087303 synonymous SNV synonymous SNV unknown NID2:NM_007361:exon17:c.T3507C:p.A1169A, NID2:uc001wzo.3:exon17:c.T3507C:p.A1169A,NID2:uc010tqt.1:exon17:c.T3507C:p.A1169A,NID2:uc010tqs.2:exon16:c.T3363C:p.A1121A, UNKNOWN Het;A>G 1748;93|81 Ref Hom;A>G 4413;0|171 N N - 14 53098902 53098902 G A snp nonsynonymous SNV G790A V264I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GPR137C Gpr137c ENSG00000180998 G protein-coupled receptor 137C chr14:53019866-53104431 Heart Failure GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR137C http://www.informatics.jax.org/searchtool/Search.do?query=GPR137C&submit=Quick%0D%14561ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR137C rs762063 0.41234 0.4543 0.4967 0.23 3 13 exonic exonic exonic GPR137C GPR137C ENSG00000180998 nonsynonymous SNV nonsynonymous SNV unknown GPR137C:NM_001099652:exon4:c.G742A:p.V248I, GPR137C:uc001wzt.4:exon5:c.G790A:p.V264I,GPR137C:uc001wzu.4:exon4:c.G742A:p.V248I, UNKNOWN Het;G>A 997;63|45 Het;G>A 2991;91|132 Hom;G>A 5780;0|209 N N - 14 53100760 53100760 A G snp intronic GPR137C Gpr137c ENSG00000180998 G protein-coupled receptor 137C chr14:53019866-53104431 Heart Failure GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR137C http://www.informatics.jax.org/searchtool/Search.do?query=GPR137C&submit=Quick%0D%14561ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR137C rs11157925 0.579872 0 0 1 0 0 intronic intronic intronic GPR137C GPR137C ENSG00000180998 Na Na Na Na Na Na Het;A>G 146;6|6 Het;A>G 261;8|10 Hom;A>G 827;1|24 N N - 14 53110384 53110384 T C snp intronic ERO1L rs4898762 0.410942 0.4367 0.5285 1 0 0 intronic intronic intronic ERO1L ERO1L ENSG00000197930 Na Na Na Na Na Na Het;T>C 110;3|5 Het;T>C 147;6|7 Hom;T>C 490;0|15 N N - 14 53130507 53130507 T C snp unknown ERO1A Ero1l rs17125636 0.38099 0.3998 0.4532 0.50 2 4 intronic intronic exonic ERO1L ERO1L ENSG00000197930 Na Na unknown Na Na UNKNOWN Het;T>C 352;25|17 Het;T>C 468;14|22 Hom;T>C 1033;0|38 N N - 14 53133036 53133036 T C snp intronic ERO1L rs12885338 0.485823 0 0 1 0 0 intronic intronic intronic ERO1L ERO1L ENSG00000197930 Na Na Na Na Na Na Het;T>C 407;17|15 Het;T>C 469;15|20 Hom;T>C 696;0|21 N N - 14 53823953 53823953 C A snp ncRNA_intronic AL365295.1 rs1255300 0.280351 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927620(dist=199707),MIR5580(dist=591192) DDHD1(dist=203907),MIR5580(dist=591192) ENSG00000237356 Na Na Na Na Na Na Het;C>A 99;17|6 Ref Hom;C>A 418;0|17 N N - 14 53823979 53823979 C T snp ncRNA_intronic AL365295.1 rs1255299 0.279752 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927620(dist=199733),MIR5580(dist=591166) DDHD1(dist=203933),MIR5580(dist=591166) ENSG00000237356 Na Na Na Na Na Na Het;C>T 43;12|5 Ref Hom;C>T 360;0|15 N N - 14 54419106 54419106 A C snp intronic BMP4 Bmp4 ENSG00000125378 bone morphogenetic protein 4 chr14:54416454-54425479 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016] Bone Mineral Density; Osteoporosis; Melanoma|Skin Neoplasms; neural tube defects; nonsyndromic cleft lip; Type 2 Diabetes| edema | rosiglitazone; Parkinson's disease; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; Calcinosis|Diabetes Mellitus, Type 2|; Ossification of Posterior Longitudinal Ligament; colorectal cancer; Cleft Lip|Cleft Palate; early marginal bone loss around endosseous implants.; Alzheimer's disease ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; microphthalmia | coloboma; hypospadias; Hemochromatosis; Cleft Lip|Cleft Palate|; ovarian cancer; Anemia, Sickle Cell|Bone Diseases|Sickle cell anemia; Chronic renal failure|Kidney Failure, Chronic; bone density Targeted mutants have wide ranging effects, including embryonic lethality, aberrant mesoderm differentation, developmental retardation and disorganized posterior structures; heterozygous null mutants display anomalies of the kidney and urinary tract; other targeted mutants display failure of lens induction and lack primordial germ cells. Post-translational protein phosphorylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;IEA|GO:0001649;osteoblast differentiation;IDA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IDA|GO:0001658;branching involved in ureteric bud morphogenesis;IDA|GO:0001707;mesoderm formation;IEA|GO:0001759;organ induction;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEP|GO:0001843;neural tube closure;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0001944;vasculature development;IEA|GO:0001958;endochondral ossification;IEA|GO:0002043;blood vessel endothelial cell proliferation involved in sprouting angiogenesis;IDA|GO:0002062;chondrocyte differentiation;IEA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002320;lymphoid progenitor cell differentiation;IMP|GO:0003014;renal system process;IEA|GO:0003130;BMP signaling pathway involved in heart induction;IMP|GO:0003139;secondary heart field specification;IMP|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003149;membranous septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0003279;cardiac septum development;TAS|GO:0003323;type B pancreatic cell development;IDA|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IDA|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007224;smoothened signaling pathway;IEP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007492;endoderm development;IEA|GO:0007500;mesodermal cell fate determination;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009791;post-embryonic development;IDA|GO:0009888;tissue development;IEA|GO:0009948;anterior/posterior axis specification;IEA|GO:0010159;specification of animal organ position;IEA|GO:0010453;regulation of cell fate commitment;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010942;positive regulation of cell death;IDA|GO:0021537;telencephalon development;IDA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0030224;monocyte differentiation;IDA|GO:0030225;macrophage differentiation;IDA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033085;negative regulation of T cell differentiation in thymus;IMP|GO:0033088;negative regulation of immature T cell proliferation in thymus;IMP|GO:0034504;protein localization to nucleus;IDA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035990;tendon cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IEA|GO:0042306;regulation of protein import into nucleus;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IGI|GO:0042487;regulation of odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043401;steroid hormone mediated signaling pathway;IMP|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045165;cell fate commitment;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0045778;positive regulation of ossification;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045839;negative regulation of mitotic nuclear division;IDA|GO:0045843;negative regulation of striated muscle tissue development;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048286;lung alveolus development;IDA|GO:0048333;mesodermal cell differentiation;IEA|GO:0048392;intermediate mesodermal cell differentiation;IDA|GO:0048593;camera-type eye morphogenesis;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048660;regulation of smooth muscle cell proliferation;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0048663;neuron fate commitment;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050918;positive chemotaxis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055020;positive regulation of cardiac muscle fiber development;IMP|GO:0060113;inner ear receptor cell differentiation;IEA|GO:0060197;cloacal septation;IEA|GO:0060235;lens induction in camera-type eye;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IEA|GO:0060348;bone development;IEA|GO:0060363;cranial suture morphogenesis;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060393;regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060425;lung morphogenesis;IDA|GO:0060429;epithelium development;IEA|GO:0060433;bronchus development;IDA|GO:0060438;trachea development;IDA|GO:0060440;trachea formation;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IDA|GO:0060442;branching involved in prostate gland morphogenesis;IEA|GO:0060449;bud elongation involved in lung branching;IEA|GO:0060502;epithelial cell proliferation involved in lung morphogenesis;IDA|GO:0060503;bud dilation involved in lung branching;IDA|GO:0060512;prostate gland morphogenesis;IEA|GO:0060548;negative regulation of cell death;IDA|GO:0060592;mammary gland formation;IEA|GO:0060684;epithelial-mesenchymal cell signaling;IEA|GO:0060686;negative regulation of prostatic bud formation;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060688;regulation of morphogenesis of a branching structure;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061035;regulation of cartilage development;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0061047;positive regulation of branching involved in lung morphogenesis;IEA|GO:0061149;BMP signaling pathway involved in ureter morphogenesis;IEA|GO:0061151;BMP signaling pathway involved in renal system segmentation;IEA|GO:0061155;pulmonary artery endothelial tube morphogenesis;IDA|GO:0061312;BMP signaling pathway involved in heart development;IEA|GO:0061626;pharyngeal arch artery morphogenesis;IEA|GO:0070244;negative regulation of thymocyte apoptotic process;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071773;cellular response to BMP stimulus;IMP|GO:0071893;BMP signaling pathway involved in nephric duct formation;IDA|GO:0072001;renal system development;IEP|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0072097;negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway;IDA|GO:0072101;specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway;IDA|GO:0072104;glomerular capillary formation;IEA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IDA|GO:0072138;mesenchymal cell proliferation involved in ureteric bud development;IEA|GO:0072161;mesenchymal cell differentiation involved in kidney development;IEA|GO:0072192;ureter epithelial cell differentiation;IEA|GO:0072193;ureter smooth muscle cell differentiation;IEA|GO:0072198;mesenchymal cell proliferation involved in ureter development;IEA|GO:0072200;negative regulation of mesenchymal cell proliferation involved in ureter development;IDA|GO:0072205;metanephric collecting duct development;IEA|GO:0090184;positive regulation of kidney development;IDA|GO:0090191;negative regulation of branching involved in ureteric bud morphogenesis;IDA|GO:0090194;negative regulation of glomerulus development;IDA|GO:1901964;positive regulation of cell proliferation involved in outflow tract morphogenesis;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:2000005;negative regulation of metanephric S-shaped body morphogenesis;IDA|GO:2000007;negative regulation of metanephric comma-shaped body morphogenesis;IDA|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2000137;negative regulation of cell proliferation involved in heart morphogenesis;IMP|GO:2001012;mesenchymal cell differentiation involved in renal system development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;IEA|GO:0001649;osteoblast differentiation;IDA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IDA|GO:0001658;branching involved in ureteric bud morphogenesis;IDA|GO:0001707;mesoderm formation;IEA|GO:0001759;organ induction;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEP|GO:0001843;neural tube closure;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0001944;vasculature development;IEA|GO:0001958;endochondral ossification;IEA|GO:0002043;blood vessel endothelial cell proliferation involved in sprouting angiogenesis;IDA|GO:0002062;chondrocyte differentiation;IEA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002320;lymphoid progenitor cell differentiation;IMP|GO:0003014;renal system process;IEA|GO:0003130;BMP signaling pathway involved in heart induction;IMP|GO:0003139;secondary heart field specification;IMP|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003149;membranous septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0003279;cardiac septum development;TAS|GO:0003323;type B pancreatic cell development;IDA|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IDA|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007224;smoothened signaling pathway;IEP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007492;endoderm development;IEA|GO:0007500;mesodermal cell fate determination;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009791;post-embryonic development;IDA|GO:0009888;tissue development;IEA|GO:0009948;anterior/posterior axis specification;IEA|GO:0010159;specification of animal organ position;IEA|GO:0010453;regulation of cell fate commitment;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010942;positive regulation of cell death;IDA|GO:0021537;telencephalon development;IDA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0030224;monocyte differentiation;IDA|GO:0030225;macrophage differentiation;IDA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033085;negative regulation of T cell differentiation in thymus;IMP|GO:0033088;negative regulation of immature T cell proliferation in thymus;IMP|GO:0034504;protein localization to nucleus;IDA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035990;tendon cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IEA|GO:0042306;regulation of protein import into nucleus;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IGI|GO:0042487;regulation of odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043401;steroid hormone mediated signaling pathway;IMP|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045165;cell fate commitment;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0045778;positive regulation of ossification;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045839;negative regulation of mitotic nuclear division;IDA|GO:0045843;negative regulation of striated muscle tissue development;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048286;lung alveolus development;IDA|GO:0048333;mesodermal cell differentiation;IEA|GO:0048392;intermediate mesodermal cell differentiation;IDA|GO:0048593;camera-type eye morphogenesis;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048660;regulation of smooth muscle cell proliferation;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0048663;neuron fate commitment;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050918;positive chemotaxis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055020;positive regulation of cardiac muscle fiber development;IMP|GO:0060113;inner ear receptor cell differentiation;IEA|GO:0060197;cloacal septation;IEA|GO:0060235;lens induction in camera-type eye;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IEA|GO:0060348;bone development;IEA|GO:0060363;cranial suture morphogenesis;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060393;regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060425;lung morphogenesis;IDA|GO:0060429;epithelium development;IEA|GO:0060433;bronchus development;IDA|GO:0060438;trachea development;IDA|GO:0060440;trachea formation;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IDA|GO:0060442;branching involved in prostate gland morphogenesis;IEA|GO:0060449;bud elongation involved in lung branching;IEA|GO:0060502;epithelial cell proliferation involved in lung morphogenesis;IDA|GO:0060503;bud dilation involved in lung branching;IDA|GO:0060512;prostate gland morphogenesis;IEA|GO:0060548;negative regulation of cell death;IDA|GO:0060592;mammary gland formation;IEA|GO:0060684;epithelial-mesenchymal cell signaling;IEA|GO:0060686;negative regulation of prostatic bud formation;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060688;regulation of morphogenesis of a branching structure;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061035;regulation of cartilage development;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0061047;positive regulation of branching involved in lung morphogenesis;IEA|GO:0061149;BMP signaling pathway involved in ureter morphogenesis;IEA|GO:0061151;BMP signaling pathway involved in renal system segmentation;IEA|GO:0061155;pulmonary artery endothelial tube morphogenesis;IDA|GO:0061312;BMP signaling pathway involved in heart development;IEA|GO:0061626;pharyngeal arch artery morphogenesis;IEA|GO:0070244;negative regulation of thymocyte apoptotic process;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071773;cellular response to BMP stimulus;IMP|GO:0071893;BMP signaling pathway involved in nephric duct formation;IDA|GO:0072001;renal system development;IEP|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0072097;negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway;IDA|GO:0072101;specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway;IDA|GO:0072104;glomerular capillary formation;IEA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IDA|GO:0072138;mesenchymal cell proliferation involved in ureteric bud development;IEA|GO:0072161;mesenchymal cell differentiation involved in kidney development;IEA|GO:0072192;ureter epithelial cell differentiation;IEA|GO:0072193;ureter smooth muscle cell differentiation;IEA|GO:0072198;mesenchymal cell proliferation involved in ureter development;IEA|GO:0072200;negative regulation of mesenchymal cell proliferation involved in ureter development;IDA|GO:0072205;metanephric collecting duct development;IEA|GO:0090184;positive regulation of kidney development;IDA|GO:0090191;negative regulation of branching involved in ureteric bud morphogenesis;IDA|GO:0090194;negative regulation of glomerulus development;IDA|GO:1901964;positive regulation of cell proliferation involved in outflow tract morphogenesis;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:2000005;negative regulation of metanephric S-shaped body morphogenesis;IDA|GO:2000007;negative regulation of metanephric comma-shaped body morphogenesis;IDA|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2000137;negative regulation of cell proliferation involved in heart morphogenesis;IMP|GO:2001012;mesenchymal cell differentiation involved in renal system development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005125;cytokine activity;IDA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0008201;heparin binding;IEA|GO:0039706;co-receptor binding;IPI|GO:0042056;chemoattractant activity;IDA|GO:0070700;BMP receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BMP4 https://www.uniprot.org/uniprot/P12644 https://hpo.jax.org/app/browse/search?q=BMP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=112262 http://www.informatics.jax.org/searchtool/Search.do?query=BMP4&submit=Quick%0D%17ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BMP4 rs35107139 0.483027 0 0 1 0 0 intronic intronic intronic BMP4 BMP4 ENSG00000125378 Na Na Na Na Na Na Het;A>C 248;6|7 Ref Hom;A>C 107;0|3 N N - 14 54419110 54419110 G C snp intronic BMP4 Bmp4 ENSG00000125378 bone morphogenetic protein 4 chr14:54416454-54425479 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016] Bone Mineral Density; Osteoporosis; Melanoma|Skin Neoplasms; neural tube defects; nonsyndromic cleft lip; Type 2 Diabetes| edema | rosiglitazone; Parkinson's disease; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; Calcinosis|Diabetes Mellitus, Type 2|; Ossification of Posterior Longitudinal Ligament; colorectal cancer; Cleft Lip|Cleft Palate; early marginal bone loss around endosseous implants.; Alzheimer's disease ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; microphthalmia | coloboma; hypospadias; Hemochromatosis; Cleft Lip|Cleft Palate|; ovarian cancer; Anemia, Sickle Cell|Bone Diseases|Sickle cell anemia; Chronic renal failure|Kidney Failure, Chronic; bone density Targeted mutants have wide ranging effects, including embryonic lethality, aberrant mesoderm differentation, developmental retardation and disorganized posterior structures; heterozygous null mutants display anomalies of the kidney and urinary tract; other targeted mutants display failure of lens induction and lack primordial germ cells. Post-translational protein phosphorylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;IEA|GO:0001649;osteoblast differentiation;IDA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IDA|GO:0001658;branching involved in ureteric bud morphogenesis;IDA|GO:0001707;mesoderm formation;IEA|GO:0001759;organ induction;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEP|GO:0001843;neural tube closure;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0001944;vasculature development;IEA|GO:0001958;endochondral ossification;IEA|GO:0002043;blood vessel endothelial cell proliferation involved in sprouting angiogenesis;IDA|GO:0002062;chondrocyte differentiation;IEA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002320;lymphoid progenitor cell differentiation;IMP|GO:0003014;renal system process;IEA|GO:0003130;BMP signaling pathway involved in heart induction;IMP|GO:0003139;secondary heart field specification;IMP|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003149;membranous septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0003279;cardiac septum development;TAS|GO:0003323;type B pancreatic cell development;IDA|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IDA|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007224;smoothened signaling pathway;IEP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007492;endoderm development;IEA|GO:0007500;mesodermal cell fate determination;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009791;post-embryonic development;IDA|GO:0009888;tissue development;IEA|GO:0009948;anterior/posterior axis specification;IEA|GO:0010159;specification of animal organ position;IEA|GO:0010453;regulation of cell fate commitment;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010942;positive regulation of cell death;IDA|GO:0021537;telencephalon development;IDA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0030224;monocyte differentiation;IDA|GO:0030225;macrophage differentiation;IDA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033085;negative regulation of T cell differentiation in thymus;IMP|GO:0033088;negative regulation of immature T cell proliferation in thymus;IMP|GO:0034504;protein localization to nucleus;IDA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035990;tendon cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IEA|GO:0042306;regulation of protein import into nucleus;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IGI|GO:0042487;regulation of odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043401;steroid hormone mediated signaling pathway;IMP|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045165;cell fate commitment;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0045778;positive regulation of ossification;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045839;negative regulation of mitotic nuclear division;IDA|GO:0045843;negative regulation of striated muscle tissue development;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048286;lung alveolus development;IDA|GO:0048333;mesodermal cell differentiation;IEA|GO:0048392;intermediate mesodermal cell differentiation;IDA|GO:0048593;camera-type eye morphogenesis;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048660;regulation of smooth muscle cell proliferation;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0048663;neuron fate commitment;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050918;positive chemotaxis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055020;positive regulation of cardiac muscle fiber development;IMP|GO:0060113;inner ear receptor cell differentiation;IEA|GO:0060197;cloacal septation;IEA|GO:0060235;lens induction in camera-type eye;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IEA|GO:0060348;bone development;IEA|GO:0060363;cranial suture morphogenesis;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060393;regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060425;lung morphogenesis;IDA|GO:0060429;epithelium development;IEA|GO:0060433;bronchus development;IDA|GO:0060438;trachea development;IDA|GO:0060440;trachea formation;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IDA|GO:0060442;branching involved in prostate gland morphogenesis;IEA|GO:0060449;bud elongation involved in lung branching;IEA|GO:0060502;epithelial cell proliferation involved in lung morphogenesis;IDA|GO:0060503;bud dilation involved in lung branching;IDA|GO:0060512;prostate gland morphogenesis;IEA|GO:0060548;negative regulation of cell death;IDA|GO:0060592;mammary gland formation;IEA|GO:0060684;epithelial-mesenchymal cell signaling;IEA|GO:0060686;negative regulation of prostatic bud formation;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060688;regulation of morphogenesis of a branching structure;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061035;regulation of cartilage development;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0061047;positive regulation of branching involved in lung morphogenesis;IEA|GO:0061149;BMP signaling pathway involved in ureter morphogenesis;IEA|GO:0061151;BMP signaling pathway involved in renal system segmentation;IEA|GO:0061155;pulmonary artery endothelial tube morphogenesis;IDA|GO:0061312;BMP signaling pathway involved in heart development;IEA|GO:0061626;pharyngeal arch artery morphogenesis;IEA|GO:0070244;negative regulation of thymocyte apoptotic process;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071773;cellular response to BMP stimulus;IMP|GO:0071893;BMP signaling pathway involved in nephric duct formation;IDA|GO:0072001;renal system development;IEP|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0072097;negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway;IDA|GO:0072101;specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway;IDA|GO:0072104;glomerular capillary formation;IEA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IDA|GO:0072138;mesenchymal cell proliferation involved in ureteric bud development;IEA|GO:0072161;mesenchymal cell differentiation involved in kidney development;IEA|GO:0072192;ureter epithelial cell differentiation;IEA|GO:0072193;ureter smooth muscle cell differentiation;IEA|GO:0072198;mesenchymal cell proliferation involved in ureter development;IEA|GO:0072200;negative regulation of mesenchymal cell proliferation involved in ureter development;IDA|GO:0072205;metanephric collecting duct development;IEA|GO:0090184;positive regulation of kidney development;IDA|GO:0090191;negative regulation of branching involved in ureteric bud morphogenesis;IDA|GO:0090194;negative regulation of glomerulus development;IDA|GO:1901964;positive regulation of cell proliferation involved in outflow tract morphogenesis;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:2000005;negative regulation of metanephric S-shaped body morphogenesis;IDA|GO:2000007;negative regulation of metanephric comma-shaped body morphogenesis;IDA|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2000137;negative regulation of cell proliferation involved in heart morphogenesis;IMP|GO:2001012;mesenchymal cell differentiation involved in renal system development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;IEA|GO:0001649;osteoblast differentiation;IDA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IDA|GO:0001658;branching involved in ureteric bud morphogenesis;IDA|GO:0001707;mesoderm formation;IEA|GO:0001759;organ induction;IEA|GO:0001822;kidney development;IMP|GO:0001823;mesonephros development;IEP|GO:0001843;neural tube closure;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0001944;vasculature development;IEA|GO:0001958;endochondral ossification;IEA|GO:0002043;blood vessel endothelial cell proliferation involved in sprouting angiogenesis;IDA|GO:0002062;chondrocyte differentiation;IEA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002320;lymphoid progenitor cell differentiation;IMP|GO:0003014;renal system process;IEA|GO:0003130;BMP signaling pathway involved in heart induction;IMP|GO:0003139;secondary heart field specification;IMP|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003149;membranous septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0003279;cardiac septum development;TAS|GO:0003323;type B pancreatic cell development;IDA|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IDA|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007224;smoothened signaling pathway;IEP|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0007492;endoderm development;IEA|GO:0007500;mesodermal cell fate determination;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009791;post-embryonic development;IDA|GO:0009888;tissue development;IEA|GO:0009948;anterior/posterior axis specification;IEA|GO:0010159;specification of animal organ position;IEA|GO:0010453;regulation of cell fate commitment;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010942;positive regulation of cell death;IDA|GO:0021537;telencephalon development;IDA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0030224;monocyte differentiation;IDA|GO:0030225;macrophage differentiation;IDA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033085;negative regulation of T cell differentiation in thymus;IMP|GO:0033088;negative regulation of immature T cell proliferation in thymus;IMP|GO:0034504;protein localization to nucleus;IDA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035990;tendon cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IEA|GO:0042306;regulation of protein import into nucleus;IDA|GO:0042326;negative regulation of phosphorylation;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IGI|GO:0042487;regulation of odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043401;steroid hormone mediated signaling pathway;IMP|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045165;cell fate commitment;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0045778;positive regulation of ossification;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045839;negative regulation of mitotic nuclear division;IDA|GO:0045843;negative regulation of striated muscle tissue development;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048286;lung alveolus development;IDA|GO:0048333;mesodermal cell differentiation;IEA|GO:0048392;intermediate mesodermal cell differentiation;IDA|GO:0048593;camera-type eye morphogenesis;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048660;regulation of smooth muscle cell proliferation;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0048663;neuron fate commitment;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050918;positive chemotaxis;IEA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0051150;regulation of smooth muscle cell differentiation;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055020;positive regulation of cardiac muscle fiber development;IMP|GO:0060113;inner ear receptor cell differentiation;IEA|GO:0060197;cloacal septation;IEA|GO:0060235;lens induction in camera-type eye;IEA|GO:0060272;embryonic skeletal joint morphogenesis;IEA|GO:0060348;bone development;IEA|GO:0060363;cranial suture morphogenesis;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060393;regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060425;lung morphogenesis;IDA|GO:0060429;epithelium development;IEA|GO:0060433;bronchus development;IDA|GO:0060438;trachea development;IDA|GO:0060440;trachea formation;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IDA|GO:0060442;branching involved in prostate gland morphogenesis;IEA|GO:0060449;bud elongation involved in lung branching;IEA|GO:0060502;epithelial cell proliferation involved in lung morphogenesis;IDA|GO:0060503;bud dilation involved in lung branching;IDA|GO:0060512;prostate gland morphogenesis;IEA|GO:0060548;negative regulation of cell death;IDA|GO:0060592;mammary gland formation;IEA|GO:0060684;epithelial-mesenchymal cell signaling;IEA|GO:0060686;negative regulation of prostatic bud formation;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:0060688;regulation of morphogenesis of a branching structure;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061035;regulation of cartilage development;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0061047;positive regulation of branching involved in lung morphogenesis;IEA|GO:0061149;BMP signaling pathway involved in ureter morphogenesis;IEA|GO:0061151;BMP signaling pathway involved in renal system segmentation;IEA|GO:0061155;pulmonary artery endothelial tube morphogenesis;IDA|GO:0061312;BMP signaling pathway involved in heart development;IEA|GO:0061626;pharyngeal arch artery morphogenesis;IEA|GO:0070244;negative regulation of thymocyte apoptotic process;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071773;cellular response to BMP stimulus;IMP|GO:0071893;BMP signaling pathway involved in nephric duct formation;IDA|GO:0072001;renal system development;IEP|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0072097;negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway;IDA|GO:0072101;specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway;IDA|GO:0072104;glomerular capillary formation;IEA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IDA|GO:0072138;mesenchymal cell proliferation involved in ureteric bud development;IEA|GO:0072161;mesenchymal cell differentiation involved in kidney development;IEA|GO:0072192;ureter epithelial cell differentiation;IEA|GO:0072193;ureter smooth muscle cell differentiation;IEA|GO:0072198;mesenchymal cell proliferation involved in ureter development;IEA|GO:0072200;negative regulation of mesenchymal cell proliferation involved in ureter development;IDA|GO:0072205;metanephric collecting duct development;IEA|GO:0090184;positive regulation of kidney development;IDA|GO:0090191;negative regulation of branching involved in ureteric bud morphogenesis;IDA|GO:0090194;negative regulation of glomerulus development;IDA|GO:1901964;positive regulation of cell proliferation involved in outflow tract morphogenesis;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:2000005;negative regulation of metanephric S-shaped body morphogenesis;IDA|GO:2000007;negative regulation of metanephric comma-shaped body morphogenesis;IDA|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2000137;negative regulation of cell proliferation involved in heart morphogenesis;IMP|GO:2001012;mesenchymal cell differentiation involved in renal system development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005125;cytokine activity;IDA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0008201;heparin binding;IEA|GO:0039706;co-receptor binding;IPI|GO:0042056;chemoattractant activity;IDA|GO:0070700;BMP receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BMP4 https://www.uniprot.org/uniprot/P12644 https://hpo.jax.org/app/browse/search?q=BMP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=112262 http://www.informatics.jax.org/searchtool/Search.do?query=BMP4&submit=Quick%0D%17ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BMP4 rs10130587 0.485823 0 0 1 0 0 intronic intronic intronic BMP4 BMP4 ENSG00000125378 Na Na Na Na Na Na Het;G>C 248;6|7 Ref Hom;G>C 107;0|3 N N - 14 54875514 54875514 A G snp intronic CDKN3 Cdkn3 ENSG00000100526 cyclin dependent kinase inhibitor 3 chr14:54863567-54886936 The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Narcolepsy GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDKN3 https://www.uniprot.org/uniprot/Q16667 https://www.ncbi.nlm.nih.gov/omim/?term=123832 http://www.informatics.jax.org/searchtool/Search.do?query=CDKN3&submit=Quick%0D%2545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDKN3 rs2179896 0.686502 0.7168 0.6850 1 0 0 intronic intronic intronic CDKN3 CDKN3 ENSG00000100526 Na Na Na Na Na Na Het;A>G 896;33|38 Het;A>G 766;41|37 Hom;A>G 2141;0|83 N N - 14 54875591 54875592 GT G indel intronic CDKN3 Cdkn3 ENSG00000100526 cyclin dependent kinase inhibitor 3 chr14:54863567-54886936 The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Narcolepsy GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDKN3 https://www.uniprot.org/uniprot/Q16667 https://www.ncbi.nlm.nih.gov/omim/?term=123832 http://www.informatics.jax.org/searchtool/Search.do?query=CDKN3&submit=Quick%0D%2545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDKN3 rs4251625 0.285743 0 0 1 0 0 intronic intronic intronic CDKN3 CDKN3 ENSG00000100526 Na Na Na Na Na Na Het;-T 218;9|12 Het;-T 161;11|10 Hom;-T 748;0|30 N N - 14 55902542 55902542 G A snp intronic TBPL2 Tbpl2 ENSG00000182521 TATA-box binding protein like 2 chr14:55880259-55923444 Tobacco Use Disorder; Body Height Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBPL2 https://www.ncbi.nlm.nih.gov/omim/?term=608964 http://www.informatics.jax.org/searchtool/Search.do?query=TBPL2&submit=Quick%0D%14804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBPL2 rs7149317 0.742412 0.7128 0.7117 1 0 0 intronic intronic intronic TBPL2 TBPL2 ENSG00000182521 Na Na Na Na Na Na Het;G>A 806;27|34 Het;G>A 625;44|33 Hom;G>A 1844;0|69 N N - 14 55902698 55902698 T TAA indel intronic TBPL2 Tbpl2 ENSG00000182521 TATA-box binding protein like 2 chr14:55880259-55923444 Tobacco Use Disorder; Body Height Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBPL2 https://www.ncbi.nlm.nih.gov/omim/?term=608964 http://www.informatics.jax.org/searchtool/Search.do?query=TBPL2&submit=Quick%0D%14804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBPL2 rs113744998 0.433906 0 0.3454 1 0 0 intronic intronic intronic TBPL2 TBPL2 ENSG00000182521 Na Na Na Na Na Na Het;+AA 312;19|18 Het;+AA 436;19|20 Hom;+AA 1083;4|41 N N - 14 55907025 55907025 T A snp intronic TBPL2 Tbpl2 ENSG00000182521 TATA-box binding protein like 2 chr14:55880259-55923444 Tobacco Use Disorder; Body Height Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBPL2 https://www.ncbi.nlm.nih.gov/omim/?term=608964 http://www.informatics.jax.org/searchtool/Search.do?query=TBPL2&submit=Quick%0D%14804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBPL2 rs8020152 0.569688 0 0 1 0 0 intronic intronic intronic TBPL2 TBPL2 ENSG00000182521 Na Na Na Na Na Na Het;T>A 137;8|6 Het;T>A 148;18|8 Hom;T>A 592;0|21 N N - 14 55907172 55907172 C G snp nonsynonymous SNV G92C R31P polar,hydrophilic,charged(+) hydrophobic,neutral TBPL2 Tbpl2 ENSG00000182521 TATA-box binding protein like 2 chr14:55880259-55923444 Tobacco Use Disorder; Body Height Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBPL2 https://www.ncbi.nlm.nih.gov/omim/?term=608964 http://www.informatics.jax.org/searchtool/Search.do?query=TBPL2&submit=Quick%0D%14804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBPL2 rs8019270 0.684704 0.6457 0.6334 0.08 1 13 exonic exonic exonic TBPL2 TBPL2 ENSG00000182521 nonsynonymous SNV nonsynonymous SNV unknown TBPL2:NM_199047:exon1:c.G92C:p.R31P, TBPL2:uc001xby.3:exon1:c.G92C:p.R31P, UNKNOWN Het;C>G 517;41|27 Het;C>G 497;47|27 Hom;C>G 1195;1|46 N N - 14 56981096 56981096 T C snp ncRNA_exonic BC037850 rs883437 0.611621 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic PELI2(dist=213065),TMEM260(dist=65415) BC037850 ENSG00000258803 Na Na Na Na Na Na Het;T>C 659;41|31 Het;T>C 736;20|36 Hom;T>C 1668;0|63 N N - 14 57134201 57134201 C T snp intronic AL161757.5 rs4901712 0.571685 0 0 1 0 0 intergenic intergenic intronic TMEM260(dist=17969),OTX2(dist=133224) TMEM260(dist=17969),OTX2(dist=133224) ENSG00000259133 Na Na Na Na Na Na Het;C>T 46;2|3 Ref Hom;C>T 71;0|4 N N - 14 57397402 57397402 G C snp ncRNA_exonic OTX2-AS1 rs709975 0.420927 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic OTX2-AS1 OTX2-AS1(uc001xcr.3:c.*1809G>C) ENSG00000248550 Na Na Na Na Na Na Het;G>C 1311;64|58 Het;G>C 819;63|40 Hom;G>C 2625;1|90 N N - 14 57497631 57497631 A G snp ncRNA_intronic OTX2-AS1 rs1005828 0.501398 0 0 1 0 0 intergenic intergenic ncRNA_intronic OTX2-AS1(dist=100081),EXOC5(dist=171563) OTX2-AS1(dist=100081),EXOC5(dist=171563) ENSG00000248550 Na Na Na Na Na Na Het;A>G 297;12|15 Ref Hom;A>G 1007;0|37 N N - 14 57509828 57509828 G A snp ncRNA_intronic OTX2-AS1 rs713186 0.500599 0 0 1 0 0 intergenic intergenic ncRNA_intronic OTX2-AS1(dist=112278),EXOC5(dist=159366) OTX2-AS1(dist=112278),EXOC5(dist=159366) ENSG00000248550 Na Na Na Na Na Na Het;G>A 340;5|14 Het;G>A 42;6|4 Hom;G>A 516;0|20 N N - 14 57804734 57804734 G A snp intergenic AP5M1 Ap5m1 ENSG00000053770 adaptor related protein complex 5 mu 1 subunit chr14:57735627-57756797 Albumins GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;IMP GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0030119;AP-type membrane coat adaptor complex;IDA|GO:0031902;late endosome membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/AP5M1 https://www.uniprot.org/uniprot/Q9H0R1 https://www.ncbi.nlm.nih.gov/omim/?term=614368 http://www.informatics.jax.org/searchtool/Search.do?query=AP5M1&submit=Quick%0D%963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP5M1 rs12586520 0.232428 0 0 1 0 0 intergenic intergenic intergenic AP5M1(dist=47937),NAA30(dist=52537) AP5M1(dist=47937),NAA30(dist=52537) ENSG00000053770(dist=47937),ENSG00000259008(dist=17430) Na Na Na Na Na Na Het;G>A 3827;175|185 Het;G>A 3397;191|168 Hom;G>A 10188;0|395 N N - 14 57863385 57863385 C T snp intronic NAA30 Naa30 ENSG00000139977 N(alpha)-acetyltransferase 30, NatC catalytic subunit chr14:57857262-57882635 Macular Degeneration Retrograde transport at the Trans-Golgi-Network GO:0017196;N-terminal peptidyl-methionine acetylation;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005844;polysome;IDA|GO:0031417;NatC complex;IDA GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008080;N-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAA30 https://www.uniprot.org/uniprot/Q147X3 http://www.informatics.jax.org/searchtool/Search.do?query=NAA30&submit=Quick%0D%7963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA30 rs12894584 0.105631 0 0 1 0 0 intronic intronic intronic NAA30 NAA30 ENSG00000139977 Na Na Na Na Na Na Het;C>T 695;29|27 Het;C>T 224;17|13 Hom;C>T 893;0|29 N N - 14 58097397 58097397 G A snp ncRNA_exonic AL136520.1 rs2224713 0.59405 0 0 1 0 0 intronic intronic ncRNA_exonic SLC35F4 SLC35F4 ENSG00000258856 Na Na Na Na Na Na Het;G>A 385;13|14 Het;G>A 195;9|8 Hom;G>A 693;2|24 N N - 14 59328169 59328169 T C snp ncRNA_intronic LINC01500 rs67832949 0.21885 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01500 Mir_548(dist=90214),DAAM1(dist=327212) ENSG00000258583 Na Na Na Na Na Na Het;T>C 230;5|7 Het;T>C 348;8|13 Hom;T>C 288;0|10 N N - 14 59415100 59415100 G A snp ncRNA_intronic LINC01500 rs17095437 0.255391 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01500 Mir_548(dist=177145),DAAM1(dist=240281) ENSG00000258583 Na Na Na Na Na Na Het;G>A 279;13|12 Het;G>A 755;25|35 Hom;G>A 1545;0|61 N N - 14 60004844 60004844 C T snp nonsynonymous SNV G1520A G507E aliphatic,neutral polar,hydrophilic,charged(-) CCDC175 Ccdc175 ENSG00000151838 coiled-coil domain containing 175 chr14:59971257-60043549 Alzheimer Disease; Erythrocyte Count http://www.genecards.org/index.php?path=/Search/keyword/CCDC175 https://www.uniprot.org/uniprot/P0C221 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175 rs4261431 0.531749 0.5072 0.5502 0.09 1 11 exonic exonic exonic CCDC175 CCDC175 ENSG00000151838 nonsynonymous SNV nonsynonymous SNV unknown CCDC175:NM_001164399:exon13:c.G1520A:p.G507E, CCDC175:uc021rtw.1:exon13:c.G1520A:p.G507E, UNKNOWN Het;C>T 1316;87|63 Het;C>T 791;91|43 Hom;C>T 4238;2|157 N N - 14 60030675 60030675 A G snp intronic CCDC175 Ccdc175 ENSG00000151838 coiled-coil domain containing 175 chr14:59971257-60043549 Alzheimer Disease; Erythrocyte Count http://www.genecards.org/index.php?path=/Search/keyword/CCDC175 https://www.uniprot.org/uniprot/P0C221 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175 rs17255905 0.535743 0 0 1 0 0 intronic intronic intronic CCDC175 CCDC175 ENSG00000151838 Na Na Na Na Na Na Het;A>G 119;8|5 Het;A>G 65;9|4 Hom;A>G 391;0|13 N N - 14 60031645 60031645 C T snp intronic CCDC175 Ccdc175 ENSG00000151838 coiled-coil domain containing 175 chr14:59971257-60043549 Alzheimer Disease; Erythrocyte Count http://www.genecards.org/index.php?path=/Search/keyword/CCDC175 https://www.uniprot.org/uniprot/P0C221 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175 rs4901941 0.535144 0 0 1 0 0 intronic intronic intronic CCDC175 CCDC175 ENSG00000151838 Na Na Na Na Na Na Het;C>T 170;4|7 Het;C>T 227;6|8 Hom;C>T 263;0|8 N N - 14 60031996 60031996 G A snp intronic CCDC175 Ccdc175 ENSG00000151838 coiled-coil domain containing 175 chr14:59971257-60043549 Alzheimer Disease; Erythrocyte Count http://www.genecards.org/index.php?path=/Search/keyword/CCDC175 https://www.uniprot.org/uniprot/P0C221 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175 rs1980580 0.464856 0.4187 0.4942 1 0 0 intronic intronic intronic CCDC175 CCDC175 ENSG00000151838 Na Na Na Na Na Na Het;G>A 2255;83|91 Het;G>A 1832;88|82 Hom;G>A 3929;0|142 N N - 14 60032046 60032046 A G snp intronic CCDC175 Ccdc175 ENSG00000151838 coiled-coil domain containing 175 chr14:59971257-60043549 Alzheimer Disease; Erythrocyte Count http://www.genecards.org/index.php?path=/Search/keyword/CCDC175 https://www.uniprot.org/uniprot/P0C221 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175 rs1980579 0.535543 0 0 1 0 0 intronic intronic intronic CCDC175 CCDC175 ENSG00000151838 Na Na Na Na Na Na Het;A>G 1350;32|45 Het;A>G 1094;41|37 Hom;A>G 2071;0|66 N N - 14 60072023 60072023 G A snp intronic RTN1 Rtn1 ENSG00000139970 reticulon 1 chr14:60062694-60337684 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] Tobacco Use Disorder; Alzheimer Disease Mice homozygous for a null allele are viable with no gross abnormalities. GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RTN1 https://www.uniprot.org/uniprot/Q16799 https://www.ncbi.nlm.nih.gov/omim/?term=600865 http://www.informatics.jax.org/searchtool/Search.do?query=RTN1&submit=Quick%0D%7959ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTN1 rs1950786 0.888578 0 0 1 0 0 intronic intronic intronic RTN1 RTN1 ENSG00000139970 Na Na Na Na Na Na Het;G>A 646;32|25 Het;G>A 348;28|18 Hom;G>A 957;0|32 N N - 14 60928201 60928201 G A snp intronic C14orf39 4930447C04Rik ENSG00000179008 chromosome 14 open reading frame 39 chr14:60863187-60982261 Body Height; Echocardiography; Respiratory Function Tests Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. GO:0006310;DNA recombination;IEA|GO:0007129;synapsis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0048477;oogenesis;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;NAS|GO:0051321;meiotic cell cycle;IEA GO:0000801;central element;IEA|GO:0005575;cellular_component;ND|GO:0005694;chromosome;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C14orf39 https://www.ncbi.nlm.nih.gov/omim/?term=617307 http://www.informatics.jax.org/searchtool/Search.do?query=C14orf39&submit=Quick%0D%14272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf39 rs1956549 0.766174 0.8162 0.8648 1 0 0 intronic intronic intronic C14orf39 C14orf39 ENSG00000179008 Na Na Na Na Na Na Het;G>A 1555;66|72 Het;G>A 1783;34|79 Hom;G>A 3535;0|129 N N - 14 60935281 60935281 C T snp intronic C14orf39 4930447C04Rik ENSG00000179008 chromosome 14 open reading frame 39 chr14:60863187-60982261 Body Height; Echocardiography; Respiratory Function Tests Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. GO:0006310;DNA recombination;IEA|GO:0007129;synapsis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0048477;oogenesis;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;NAS|GO:0051321;meiotic cell cycle;IEA GO:0000801;central element;IEA|GO:0005575;cellular_component;ND|GO:0005694;chromosome;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C14orf39 https://www.ncbi.nlm.nih.gov/omim/?term=617307 http://www.informatics.jax.org/searchtool/Search.do?query=C14orf39&submit=Quick%0D%14272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf39 rs12878738 0.528355 0.6259 0.6374 1 0 0 intronic intronic intronic C14orf39 C14orf39 ENSG00000179008 Na Na Na Na Na Na Het;C>T 189;9|10 Het;C>T 746;33|36 Hom;C>T 2569;0|96 N N - 14 60944959 60944959 A G snp intronic C14orf39 4930447C04Rik ENSG00000179008 chromosome 14 open reading frame 39 chr14:60863187-60982261 Body Height; Echocardiography; Respiratory Function Tests Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. GO:0006310;DNA recombination;IEA|GO:0007129;synapsis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0048477;oogenesis;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;NAS|GO:0051321;meiotic cell cycle;IEA GO:0000801;central element;IEA|GO:0005575;cellular_component;ND|GO:0005694;chromosome;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C14orf39 https://www.ncbi.nlm.nih.gov/omim/?term=617307 http://www.informatics.jax.org/searchtool/Search.do?query=C14orf39&submit=Quick%0D%14272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf39 rs11845369 0.761581 0 0 1 0 0 intronic intronic intronic C14orf39 C14orf39 ENSG00000179008 Na Na Na Na Na Na Het;A>G 192;34|11 Het;A>G 231;11|12 Hom;A>G 738;0|24 N N - 14 60945203 60945203 G A snp intronic C14orf39 4930447C04Rik ENSG00000179008 chromosome 14 open reading frame 39 chr14:60863187-60982261 Body Height; Echocardiography; Respiratory Function Tests Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. GO:0006310;DNA recombination;IEA|GO:0007129;synapsis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0048477;oogenesis;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;NAS|GO:0051321;meiotic cell cycle;IEA GO:0000801;central element;IEA|GO:0005575;cellular_component;ND|GO:0005694;chromosome;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C14orf39 https://www.ncbi.nlm.nih.gov/omim/?term=617307 http://www.informatics.jax.org/searchtool/Search.do?query=C14orf39&submit=Quick%0D%14272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf39 rs11158285 0.528355 0 0 1 0 0 intronic intronic intronic C14orf39 C14orf39 ENSG00000179008 Na Na Na Na Na Na Het;G>A 236;12|8 Het;G>A 182;12|7 Hom;G>A 268;0|9 N N - 14 60975956 60975956 T C snp UTR5 -161T>C SIX6 Six6 ENSG00000184302 SIX homeobox 6 chr14:60975669-60979568 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] microphthalmia | coloboma; Echocardiography; anophthalmia; coloboma; microphthalmia Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. GO:0001654;eye development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIX6 https://hpo.jax.org/app/browse/search?q=SIX6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606326 http://www.informatics.jax.org/searchtool/Search.do?query=SIX6&submit=Quick%0D%15176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX6 rs1956558 0.82488 0 0 1 0 0 UTR5 UTR5 UTR5 SIX6(NM_007374:c.-161T>C) SIX6(uc001xfa.4:c.-161T>C) ENSG00000184302(ENST00000327720:c.-161T>C) Na Na Na Na Na Na Het;T>C 679;43|30 Het;T>C 791;13|32 Hom;T>C 1148;0|44 N N - 14 60976537 60976537 C A snp nonsynonymous SNV C421A H141N aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral SIX6 Six6 ENSG00000184302 SIX homeobox 6 chr14:60975669-60979568 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] microphthalmia | coloboma; Echocardiography; anophthalmia; coloboma; microphthalmia Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. GO:0001654;eye development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIX6 https://hpo.jax.org/app/browse/search?q=SIX6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606326 http://www.informatics.jax.org/searchtool/Search.do?query=SIX6&submit=Quick%0D%15176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX6 rs33912345 0.341454 0.4356 0.5153 0.46 6 13 exonic exonic exonic SIX6 SIX6 ENSG00000184302 nonsynonymous SNV nonsynonymous SNV unknown SIX6:NM_007374:exon1:c.C421A:p.H141N, SIX6:uc001xfa.4:exon1:c.C421A:p.H141N, UNKNOWN Het;C>A 4116;154|175 Het;C>A 2160;124|101 Hom;C>A 7124;4|260 N N - 14 60978071 60978071 C G snp UTR3 *101C>G SIX6 Six6 ENSG00000184302 SIX homeobox 6 chr14:60975669-60979568 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] microphthalmia | coloboma; Echocardiography; anophthalmia; coloboma; microphthalmia Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. GO:0001654;eye development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIX6 https://hpo.jax.org/app/browse/search?q=SIX6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606326 http://www.informatics.jax.org/searchtool/Search.do?query=SIX6&submit=Quick%0D%15176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX6 rs1061108 0.803315 0 0 1 0 0 UTR3 UTR3 UTR3 SIX6(NM_007374:c.*101C>G) SIX6(uc001xfa.4:c.*101C>G) ENSG00000184302(ENST00000327720:c.*101C>G) Na Na Na Na Na Na Het;C>G 1350;61|56 Het;C>G 1053;26|42 Hom;C>G 3128;0|108 N N - 14 61028271 61028271 A G snp intergenic SIX6 Six6 ENSG00000184302 SIX homeobox 6 chr14:60975669-60979568 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] microphthalmia | coloboma; Echocardiography; anophthalmia; coloboma; microphthalmia Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. GO:0001654;eye development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIX6 https://hpo.jax.org/app/browse/search?q=SIX6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606326 http://www.informatics.jax.org/searchtool/Search.do?query=SIX6&submit=Quick%0D%15176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX6 rs1955696 0.776757 0 0 1 0 0 intergenic intergenic intergenic SIX6(dist=49746),SALRNA1(dist=77663) SIX6(dist=49746),SIX1(dist=83146) ENSG00000258670(dist=6637),ENSG00000244756(dist=10471) Na Na Na Na Na Na Het;A>G 75;7|4 Het;A>G 161;2|5 Hom;A>G 228;0|6 N N - 14 61028435 61028435 T C snp intergenic SIX6 Six6 ENSG00000184302 SIX homeobox 6 chr14:60975669-60979568 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] microphthalmia | coloboma; Echocardiography; anophthalmia; coloboma; microphthalmia Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. GO:0001654;eye development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIX6 https://hpo.jax.org/app/browse/search?q=SIX6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606326 http://www.informatics.jax.org/searchtool/Search.do?query=SIX6&submit=Quick%0D%15176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX6 rs1955697 0.820487 0 0 1 0 0 intergenic intergenic intergenic SIX6(dist=49910),SALRNA1(dist=77499) SIX6(dist=49910),SIX1(dist=82982) ENSG00000258670(dist=6801),ENSG00000244756(dist=10307) Na Na Na Na Na Na Het;T>C 730;43|35 Het;T>C 1042;52|47 Hom;T>C 2832;0|105 N N - 14 61278684 61278684 A G snp intronic MNAT1 Mnat1 ENSG00000020426 MNAT1, CDK activating kinase assembly factor chr14:61201460-61436671 The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] multiple sclerosis; Cholesterol; Body Mass Index; Tobacco Use Disorder; lung cancer; head and neck cancer Mice homozygous for disruption of this gene die as embryos at some point between implantation and gastrulation. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007512;adult heart development;IEA|GO:0008283;cell proliferation;TAS|GO:0021591;ventricular system development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0051592;response to calcium ion;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005675;holo TFIIH complex;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0061575;cyclin-dependent protein serine/threonine kinase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MNAT1 https://www.uniprot.org/uniprot/P51948 https://www.ncbi.nlm.nih.gov/omim/?term=602659 http://www.informatics.jax.org/searchtool/Search.do?query=MNAT1&submit=Quick%0D%657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MNAT1 rs2020892 0.234425 0.2394 0.3168 1 0 0 intronic intronic intronic MNAT1 MNAT1 ENSG00000020426 Na Na Na Na Na Na Het;A>G 1064;54|52 Het;A>G 621;45|33 Hom;A>G 2017;1|75 N N - 14 61285352 61285352 A G snp intronic MNAT1 Mnat1 ENSG00000020426 MNAT1, CDK activating kinase assembly factor chr14:61201460-61436671 The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] multiple sclerosis; Cholesterol; Body Mass Index; Tobacco Use Disorder; lung cancer; head and neck cancer Mice homozygous for disruption of this gene die as embryos at some point between implantation and gastrulation. RUNX1 regulates transcription of genes involved in differentiation of HSCs GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007512;adult heart development;IEA|GO:0008283;cell proliferation;TAS|GO:0021591;ventricular system development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0051592;response to calcium ion;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005675;holo TFIIH complex;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0061575;cyclin-dependent protein serine/threonine kinase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MNAT1 https://www.uniprot.org/uniprot/P51948 https://www.ncbi.nlm.nih.gov/omim/?term=602659 http://www.informatics.jax.org/searchtool/Search.do?query=MNAT1&submit=Quick%0D%657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MNAT1 rs973063 0.383187 0 0 1 0 0 intronic intronic intronic MNAT1 MNAT1 ENSG00000020426 Na Na Na Na Na Na Het;A>G 121;5|5 Het;A>G 302;5|9 Hom;A>G 451;0|13 N N - 14 62023264 62023264 A C snp ncRNA_exonic LOC101927780 rs2251244 0.457268 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927780 PRKCH(dist=5566),BX648502(dist=4516) ENSG00000250548 Na Na Na Na Na Na Het;A>C 729;33|29 Het;A>C 822;34|32 Hom;A>C 2364;0|83 N N - 14 62077610 62077610 T G snp ncRNA_intronic FLJ22447 rs963476 0.926518 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic FLJ22447 FLJ22447 ENSG00000232774,ENSG00000258989 Na Na Na Na Na Na Het;T>G 606;40|30 Het;T>G 575;41|28 Hom;T>G 2129;0|82 N N - 14 62120575 62120575 C T snp ncRNA_exonic FLJ22447 rs698028 0.514177 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ22447 FLJ22447 ENSG00000232774(ENST00000229465:c.*78C>T,ENST00000556569:c.*78C>T,ENST00000556717:c.*78C>T) Na Na Na Na Na Na Het;C>T 1466;82|65 Het;C>T 1586;81|70 Hom;C>T 3629;0|129 N N - 14 62120654 62120655 GA G indel ncRNA_exonic FLJ22447 rs5809112 0.714058 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ22447 FLJ22447 ENSG00000232774(ENST00000556569:c.*157_*158delinsG,ENST00000556717:c.*157_*158delinsG) Na Na Na Na Na Na Het;-A 1143;73|54 Het;-A 654;56|33 Hom;-A 2827;0|99 N N - 14 62120767 62120767 T G snp ncRNA_exonic FLJ22447 rs698027 0.605032 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ22447 FLJ22447 ENSG00000232774(ENST00000556569:c.*270T>G) Na Na Na Na Na Na Het;T>G 1749;67|74 Het;T>G 741;56|34 Hom;T>G 3167;0|106 N N - 14 62121312 62121312 A AT indel ncRNA_exonic FLJ22447 rs34367125 0.53155 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ22447 FLJ22447 ENSG00000232774(ENST00000556569:c.*815A>AT) Na Na Na Na Na Na Het;+T 1186;64|50 Het;+T 1059;52|45 Hom;+T 2931;0|96 N N - 14 62121414 62121414 T TAAATGGTTA indel ncRNA_exonic FLJ22447 rs149712543 0.61861 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ22447 FLJ22447 ENSG00000232774(ENST00000556569:c.*917T>TAAATGGTTA) Na Na Na Na Na Na Het;+AAATGGTTA 622;27|18 Het;+AAATGGTTA 789;18|21 Hom;+AAATGGTTA 1305;0|31 N N - 14 62121521 62121521 G A snp downstream FLJ22447 rs710045 0.617612 0 0 1 0 0 downstream downstream intronic FLJ22447 FLJ22447 ENSG00000232774,ENSG00000258989 Na Na Na Na Na Na Het;G>A 107;8|5 Het;G>A 187;5|6 Hom;G>A 238;0|7 N N - 14 62212675 62212675 C T snp ncRNA_intronic HIF1A-AS2 rs4902082 0.585264 0 0 1 0 0 intronic intronic ncRNA_intronic HIF1A HIF1A ENSG00000258667,ENSG00000258964 Na Na Na Na Na Na Het;C>T 112;2|4 Ref Hom;C>T 365;0|11 N N - 14 62409661 62409661 G A snp ncRNA_intronic ENSG00000258882 rs1254844 0.414537 0 0 1 0 0 intergenic intergenic ncRNA_intronic SNAPC1(dist=146515),SYT16(dist=52880) SNAPC1(dist=146515),SYT16(dist=44142) ENSG00000258882 Na Na Na Na Na Na Het;G>A 278;13|12 Het;G>A 207;8|9 Hom;G>A 466;0|15 N N - 14 62956496 62956498 AAT A indel intergenic LINC00644 rs34052803 0.238818 0 0 1 0 0 intergenic intergenic intergenic LINC00644(dist=349805),KCNH5(dist=216793) LINC00643(dist=355593),KCNH5(dist=217447) ENSG00000270852(dist=337520),ENSG00000258638(dist=25092) Na Na Na Na Na Na Het;-AT 231;2|8 Ref Hom;-AT 413;0|9 N N - 14 63132370 63132370 G A snp intergenic LINC00644 rs73269149 0.523962 0 0 1 0 0 intergenic intergenic intergenic LINC00644(dist=525679),KCNH5(dist=40921) LINC00643(dist=531467),KCNH5(dist=41575) ENSG00000258877(dist=59935),ENSG00000140015(dist=40917) Na Na Na Na Na Na Het;G>A 386;2|10 Ref Hom;G>A 492;0|12 N N - 14 63132372 63132372 A AAC indel intergenic LINC00644 rs149440557 0.52516 0 0 1 0 0 intergenic intergenic intergenic LINC00644(dist=525681),KCNH5(dist=40919) LINC00643(dist=531469),KCNH5(dist=41573) ENSG00000258877(dist=59937),ENSG00000140015(dist=40915) Na Na Na Na Na Na Het;+AC 377;2|10 Ref Hom;+AC 483;0|12 N N - 14 63132432 63132432 G T snp intergenic LINC00644 rs8003410 0.535942 0 0 1 0 0 intergenic intergenic intergenic LINC00644(dist=525741),KCNH5(dist=40859) LINC00643(dist=531529),KCNH5(dist=41513) ENSG00000258877(dist=59997),ENSG00000140015(dist=40855) Na Na Na Na Na Na Het;G>T 108;3|6 Het;G>T 84;1|6 Hom;G>T 146;0|7 N N - 14 64375985 64375985 G T snp intronic SYNE2 Syne2 ENSG00000054654 spectrin repeat containing nuclear envelope protein 2 chr14:64319683-64693165 The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Chronic renal failure|Kidney Failure, Chronic; Hemoglobin A, Glycosylated; Tobacco Use Disorder Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for spontaneous mutations exhibit early retinal defects in photoreceptors, secondary neurons, and muller glia. Meiotic synapsis GO:0006998;nuclear envelope organization;IEA|GO:0007097;nuclear migration;IMP|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0010761;fibroblast migration;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030335;positive regulation of cell migration;ISS|GO:0031022;nuclear migration along microfilament;ISS|GO:0034504;protein localization to nucleus;IEA|GO:0051642;centrosome localization;IMP|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:1902017;regulation of cilium assembly;IEA GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005640;nuclear outer membrane;IEA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016235;aggresome;IDA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030016;myofibril;IEA|GO:0030018;Z disc;IDA|GO:0030054;cell junction;IEA|GO:0031258;lamellipodium membrane;IDA|GO:0031527;filopodium membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0031981;nuclear lumen;IDA|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0034993;LINC complex;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SYNE2 https://www.uniprot.org/uniprot/Q8WXH0 https://hpo.jax.org/app/browse/search?q=SYNE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608442 http://www.informatics.jax.org/searchtool/Search.do?query=SYNE2&submit=Quick%0D%979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNE2 rs2275018 0.621206 0.6490 0.6805 1 0 0 intronic intronic intronic SYNE2 SYNE2 ENSG00000054654 Na Na Na Na Na Na Het;G>T 567;17|24 Het;G>T 672;23|32 Hom;G>T 1347;0|48 N N - 14 64814311 64814311 C T snp ncRNA_exonic TEX21P rs1256112 0.714457 0 0.5536 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic TEX21P TEX21P ENSG00000234911 Na Na Na Na Na Na Het;C>T 777;38|35 Het;C>T 815;27|34 Hom;C>T 1522;0|53 N N - 14 65105859 65105859 T C snp intergenic PPP1R36 Ppp1r36 ENSG00000165807 protein phosphatase 1 regulatory subunit 36 chr14:65016620-65056098 Schizophrenia GO:0010923;negative regulation of phosphatase activity;IDA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R36 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R36&submit=Quick%0D%11631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R36 rs11158547 0.14976 0 0 1 0 0 intergenic intergenic intergenic PPP1R36(dist=49762),PLEKHG3(dist=65334) PPP1R36(dist=49763),PLEKHG3(dist=65334) ENSG00000259010(dist=37497),ENSG00000126822(dist=64961) Na Na Na Na Na Na Het;T>C 237;4|11 Het;T>C 155;5|8 Hom;T>C 515;0|20 N N - 14 65250939 65250939 A G snp intronic SPTB Sptb ENSG00000070182 spectrin beta, erythrocytic chr14:65213002-65346601 This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] Iron; Malaria, Falciparum; Leukocyte Count; Stroke; Tobacco Use Disorder; Brain Ischemia|Stroke; Amyotrophic Lateral Sclerosis Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007411;axon guidance;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;TAS|GO:0014731;spectrin-associated cytoskeleton;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0031235;intrinsic component of the cytoplasmic side of the plasma membrane;TAS|GO:0043234;protein complex;IDA GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IPI|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPTB https://www.uniprot.org/uniprot/P11277 https://hpo.jax.org/app/browse/search?q=SPTB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182870 http://www.informatics.jax.org/searchtool/Search.do?query=SPTB&submit=Quick%0D%1345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTB rs229634 0.630791 0.5249 0.4911 1 0 0 intronic intronic intronic SPTB SPTB ENSG00000070182 Na Na Na Na Na Na Het;A>G 1176;70|54 Het;A>G 950;54|44 Hom;A>G 2010;0|70 N N - 14 66346942 66346942 A G snp ncRNA_exonic AL391261.1 rs10498520 0.313698 0 0 1 0 0 intergenic intergenic ncRNA_exonic FUT8(dist=136103),LINC00238(dist=606147) FUT8(dist=136103),Y_RNA(dist=297303) ENSG00000258629 Na Na Na Na Na Na Het;A>G 240;25|11 Het;A>G 677;34|32 Hom;A>G 1393;0|52 N N - 14 66958606 66958606 C T snp ncRNA_intronic LINC00238 ENSG00000196553 chr14:66953072-66965271 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LINC00238 http://www.informatics.jax.org/searchtool/Search.do?query=LINC00238&submit=Quick%0D%16400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00238 rs1457419 0.451478 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00238 LINC00238 ENSG00000196553,ENSG00000258561 Na Na Na Na Na Na Het;C>T 32;3|2 Ref Hom;C>T 61;0|3 N N - 14 68040193 68040193 G T snp intronic PLEKHH1 Plekhh1 ENSG00000054690 pleckstrin homology, MyTH4 and FERM domain containing H1 chr14:68000018-68056329 GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1 https://www.uniprot.org/uniprot/Q9ULM0 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1 rs55856716 0.172324 0 0 1 0 0 intronic intronic intronic PLEKHH1 PLEKHH1 ENSG00000054690 Na Na Na Na Na Na Het;G>T 110;3|4 Ref Hom;G>T 250;0|8 N N - 14 68040925 68040925 G A snp intronic PLEKHH1 Plekhh1 ENSG00000054690 pleckstrin homology, MyTH4 and FERM domain containing H1 chr14:68000018-68056329 GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1 https://www.uniprot.org/uniprot/Q9ULM0 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1 rs3742873 0.171526 0.1813 0.2138 1 0 0 intronic intronic intronic PLEKHH1 PLEKHH1 ENSG00000054690 Na Na Na Na Na Na Het;G>A 314;9|15 Het;G>A 399;15|19 Hom;G>A 896;2|37 N N - 14 68053802 68053802 T C snp nonsynonymous SNV T40C Y14H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) PLEKHH1 Plekhh1 ENSG00000054690 pleckstrin homology, MyTH4 and FERM domain containing H1 chr14:68000018-68056329 GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1 https://www.uniprot.org/uniprot/Q9ULM0 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1 rs734028 0.555312 0.5518 0.6740 1 0 0 exonic exonic exonic PLEKHH1 PLEKHH1 ENSG00000054690 synonymous SNV nonsynonymous SNV unknown PLEKHH1:NM_020715:exon29:c.T3945C:p.A1315A, PLEKHH1:uc031qpe.1:exon2:c.T40C:p.Y14H,PLEKHH1:uc010tsx.1:exon12:c.T769C:p.Y257H, UNKNOWN Het;T>C 2281;80|100 Het;T>C 2007;102|96 Hom;T>C 4272;2|159 N N - 14 68213413 68213413 G T snp UTR3 *1740C>A ZFYVE26 Zfyve26 ENSG00000072121 zinc finger FYVE-type containing 26 chr14:68194091-68283307 This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008] Tobacco Use Disorder Mice homozygoys for a null allele display a late-onset spastic gait disorder with cerebellar ataxia, axon degeneration, and progressive loss of cortical motoneurons and Purkinje cells preceded by accumulation of autofluorescent, electron-dense, membrane-enclosed material in lysosomal structures. GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0000910;cytokinesis;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE26 https://www.uniprot.org/uniprot/Q68DK2 https://hpo.jax.org/app/browse/search?q=ZFYVE26&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612012 http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE26&submit=Quick%0D%1420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE26 rs9449 0.285543 0 0 1 0 0 UTR3 UTR3 UTR3 ZFYVE26(NM_015346:c.*1740C>A) ZFYVE26(uc001xka.2:c.*1740C>A) ENSG00000072121(ENST00000347230:c.*1740C>A) Na Na Na Na Na Na Het;G>T 918;54|45 Het;G>T 962;81|49 Hom;G>T 3474;0|129 N N - 14 68214788 68214788 T C snp UTR3 *365A>G ZFYVE26 Zfyve26 ENSG00000072121 zinc finger FYVE-type containing 26 chr14:68194091-68283307 This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008] Tobacco Use Disorder Mice homozygoys for a null allele display a late-onset spastic gait disorder with cerebellar ataxia, axon degeneration, and progressive loss of cortical motoneurons and Purkinje cells preceded by accumulation of autofluorescent, electron-dense, membrane-enclosed material in lysosomal structures. GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0000910;cytokinesis;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030496;midbody;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE26 https://www.uniprot.org/uniprot/Q68DK2 https://hpo.jax.org/app/browse/search?q=ZFYVE26&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612012 http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE26&submit=Quick%0D%1420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE26 rs12879105 0.49401 0 0 1 0 0 UTR3 UTR3 UTR3 ZFYVE26(NM_015346:c.*365A>G) ZFYVE26(uc001xka.2:c.*365A>G) ENSG00000072121(ENST00000347230:c.*365A>G,ENST00000554557:c.*5963A>G) Na Na Na Na Na Na Het;T>C 1070;61|46 Het;T>C 625;47|29 Hom;T>C 1823;2|63 N N - 14 69093637 69093637 T A snp intronic RAD51B Rad51b ENSG00000182185 RAD51 paralog B chr14:68286496-69196935 The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016] Breast Neoplasms|Mammary Neoplasms; multiple sclerosis; primary tooth development ; breast cancer; Liver Cirrhosis, Biliary; Tobacco Use Disorder; Brain Neoplasms|Glioma; breast cancer ; Breast cancer; Odontogenesis; Heart Rate; Atrial Fibrillation; Platelet Count Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. Factors involved in megakaryocyte development and platelet production GO:0000707;meiotic DNA recombinase assembly;IBA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;TAS|GO:0006312;mitotic recombination;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007596;blood coagulation;TAS|GO:0010212;response to ionizing radiation;IBA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0042148;strand invasion;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033063;Rad51B-Rad51C-Rad51D-XRCC2 complex;IEA GO:0000150;recombinase activity;IBA|GO:0000166;nucleotide binding;IEA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004520;endodeoxyribonuclease activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAD51B https://www.ncbi.nlm.nih.gov/omim/?term=602948 http://www.informatics.jax.org/searchtool/Search.do?query=RAD51B&submit=Quick%0D%14740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD51B rs8007479 0.195088 0 0 1 0 0 intergenic intronic intronic RAD51B(dist=30899),ZFP36L1(dist=160735) RAD51B ENSG00000182185 Na Na Na Na Na Na Het;T>A 1736;89|76 Het;T>A 1608;90|76 Hom;T>A 3782;0|137 N N - 14 69095474 69095474 T C snp intronic RAD51B Rad51b ENSG00000182185 RAD51 paralog B chr14:68286496-69196935 The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016] Breast Neoplasms|Mammary Neoplasms; multiple sclerosis; primary tooth development ; breast cancer; Liver Cirrhosis, Biliary; Tobacco Use Disorder; Brain Neoplasms|Glioma; breast cancer ; Breast cancer; Odontogenesis; Heart Rate; Atrial Fibrillation; Platelet Count Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. Factors involved in megakaryocyte development and platelet production GO:0000707;meiotic DNA recombinase assembly;IBA|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;TAS|GO:0006312;mitotic recombination;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007596;blood coagulation;TAS|GO:0010212;response to ionizing radiation;IBA|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0042148;strand invasion;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033063;Rad51B-Rad51C-Rad51D-XRCC2 complex;IEA GO:0000150;recombinase activity;IBA|GO:0000166;nucleotide binding;IEA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0004520;endodeoxyribonuclease activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAD51B https://www.ncbi.nlm.nih.gov/omim/?term=602948 http://www.informatics.jax.org/searchtool/Search.do?query=RAD51B&submit=Quick%0D%14740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD51B rs72729562 0.0840655 0 0 1 0 0 intergenic intronic intronic RAD51B(dist=32736),ZFP36L1(dist=158898) RAD51B ENSG00000182185 Na Na Na Na Na Na Het;T>C 659;39|26 Het;T>C 624;29|26 Hom;T>C 1534;0|53 N N - 14 69335445 69335445 G A snp ncRNA_exonic BLZF2P rs75789840 0.275359 0 0 1 0 0 intergenic intergenic ncRNA_exonic ZFP36L1(dist=72485),ACTN1(dist=5395) ZFP36L1(dist=72434),ACTN1(dist=5395) ENSG00000258565 Na Na Na Na Na Na Het;G>A 213;10|10 Het;G>A 276;12|15 Hom;G>A 1127;0|33 N N - 14 69354557 69354557 C G snp ncRNA_exonic AL117694.1 rs181474 0.579073 0 0 1 0 0 intronic UTR5 ncRNA_exonic ACTN1 ACTN1(uc001xkk.3:c.-2243G>C) ENSG00000258967 Na Na Na Na Na Na Het;C>G 89;3|5 Het;C>G 81;3|4 Hom;C>G 295;0|11 N N - 14 69376658 69376658 A C snp intronic ACTN1 Actn1 ENSG00000072110 actinin alpha 1 chr14:69340860-69446157 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; Smoking; smoking behavior; Arteries; Coronary Disease Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002576;platelet degranulation;TAS|GO:0007015;actin filament organization;IMP|GO:0030220;platelet formation;IMP|GO:0036344;platelet morphogenesis;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0048041;focal adhesion assembly;IMP|GO:0051017;actin filament bundle assembly;IEA|GO:0051271;negative regulation of cellular component movement;IMP|GO:0051639;actin filament network formation;IMP|GO:0051764;actin crosslink formation;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA GO:0001725;stress fiber;IDA|GO:0001726;ruffle;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IEA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IDA|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0042995;cell projection;IDA|GO:0070062;extracellular exosome;IDA GO:0003725;double-stranded RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0005178;integrin binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017166;vinculin binding;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTN1 https://www.uniprot.org/uniprot/P12814 https://hpo.jax.org/app/browse/search?q=ACTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102575 http://www.informatics.jax.org/searchtool/Search.do?query=ACTN1&submit=Quick%0D%1419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN1 rs743128 0.878395 0.7477 0.7694 1 0 0 intronic intronic intronic ACTN1 ACTN1 ENSG00000072110 Na Na Na Na Na Na Het;A>C 863;30|34 Het;A>C 669;29|28 Hom;A>C 1244;0|44 N N - 14 69392264 69392264 T G snp intronic ACTN1 Actn1 ENSG00000072110 actinin alpha 1 chr14:69340860-69446157 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; Smoking; smoking behavior; Arteries; Coronary Disease Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002576;platelet degranulation;TAS|GO:0007015;actin filament organization;IMP|GO:0030220;platelet formation;IMP|GO:0036344;platelet morphogenesis;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0048041;focal adhesion assembly;IMP|GO:0051017;actin filament bundle assembly;IEA|GO:0051271;negative regulation of cellular component movement;IMP|GO:0051639;actin filament network formation;IMP|GO:0051764;actin crosslink formation;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA GO:0001725;stress fiber;IDA|GO:0001726;ruffle;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IEA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IDA|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0042995;cell projection;IDA|GO:0070062;extracellular exosome;IDA GO:0003725;double-stranded RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0005178;integrin binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017166;vinculin binding;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTN1 https://www.uniprot.org/uniprot/P12814 https://hpo.jax.org/app/browse/search?q=ACTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102575 http://www.informatics.jax.org/searchtool/Search.do?query=ACTN1&submit=Quick%0D%1419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN1 rs4899272 0.803115 0.6429 0.7103 1 0 0 intronic intronic intronic ACTN1 ACTN1 ENSG00000072110 Na Na Na Na Na Na Het;T>G 1396;60|60 Het;T>G 1516;72|69 Hom;T>G 3057;1|111 N N - 14 69658733 69658733 T A snp ncRNA_exonic AL359317.2 rs11848820 0.786741 0 0 1 0 0 UTR5 UTR5 ncRNA_exonic EXD2(NM_001193363:c.-17455T>A,NM_001193362:c.-17455T>A) EXD2(uc001xkx.3:c.-36842T>A,uc010aqt.3:c.-17455T>A,uc010tte.2:c.-17455T>A) ENSG00000258957 Na Na Na Na Na Na Het;T>A 1282;41|58 Het;T>A 1207;57|54 Hom;T>A 2948;0|101 N N - 14 69695792 69695792 G A snp intronic EXD2 Exd2 ENSG00000081177 exonuclease 3'-5' domain containing 2 chr14:69658228-69709075 Parkinson Disease GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0000729;DNA double-strand break processing;IDA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006302;double-strand break repair;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0008852;exodeoxyribonuclease I activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EXD2 https://www.uniprot.org/uniprot/Q9NVH0 https://www.ncbi.nlm.nih.gov/omim/?term=616940 http://www.informatics.jax.org/searchtool/Search.do?query=EXD2&submit=Quick%0D%1763ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD2 rs3742899 0.78095 0.6658 0.6931 1 0 0 intronic intronic intronic EXD2 EXD2 ENSG00000081177 Na Na Na Na Na Na Het;G>A 664;29|31 Het;G>A 603;36|27 Hom;G>A 1765;0|61 N N - 14 69704553 69704553 G T snp nonsynonymous SNV G789T Q263H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) EXD2 Exd2 ENSG00000081177 exonuclease 3'-5' domain containing 2 chr14:69658228-69709075 Parkinson Disease GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0000729;DNA double-strand break processing;IDA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006302;double-strand break repair;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IDA|GO:0008408;3'-5' exonuclease activity;IEA|GO:0008852;exodeoxyribonuclease I activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EXD2 https://www.uniprot.org/uniprot/Q9NVH0 https://www.ncbi.nlm.nih.gov/omim/?term=616940 http://www.informatics.jax.org/searchtool/Search.do?query=EXD2&submit=Quick%0D%1763ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD2 rs8007859 0.804313 0.6855 0.7023 0.15 2 13 exonic exonic exonic EXD2 EXD2 ENSG00000081177 nonsynonymous SNV nonsynonymous SNV unknown EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H, EXD2:uc001xku.3:exon9:c.G789T:p.Q263H,EXD2:uc001xkw.3:exon7:c.G1179T:p.Q393H,EXD2:uc001xkv.3:exon8:c.G1554T:p.Q518H,EXD2:uc001xkt.3:exon10:c.G1179T:p.Q393H,EXD2:uc010aqt.3:exon9:c.G1554T:p.Q518H,EXD2:uc001xky.3:exon9:c.G1554T:p.Q518H,EXD2:uc010tte.2:exon8:c.G1554T:p.Q518H,EXD2:uc001xkx.3:exon10:c.G1179T:p.Q393H, UNKNOWN Het;G>T 1011;53|45 Het;G>T 1327;47|57 Hom;G>T 2203;0|81 N N - 14 69791213 69791213 G C snp intronic GALNT16 Galnt16 ENSG00000100626 polypeptide N-acetylgalactosaminyltransferase 16 chr14:69725994-69821183 Body Height; Tunica Media; Tobacco Use Disorder O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT16 https://www.uniprot.org/uniprot/Q8N428 https://www.ncbi.nlm.nih.gov/omim/?term=615132 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT16&submit=Quick%0D%2573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT16 rs12896878 0.279752 0 0 1 0 0 intronic intronic intronic GALNT16 GALNT16 ENSG00000100626 Na Na Na Na Na Na Het;G>C 85;2|3 Het;G>C 43;3|2 Hom;G>C 149;0|5 N N - 14 69791308 69791308 T A snp intronic GALNT16 Galnt16 ENSG00000100626 polypeptide N-acetylgalactosaminyltransferase 16 chr14:69725994-69821183 Body Height; Tunica Media; Tobacco Use Disorder O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT16 https://www.uniprot.org/uniprot/Q8N428 https://www.ncbi.nlm.nih.gov/omim/?term=615132 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT16&submit=Quick%0D%2573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT16 rs2045194 0.552316 0 0 1 0 0 intronic intronic intronic GALNT16 GALNT16 ENSG00000100626 Na Na Na Na Na Na Het;T>A 515;11|18 Het;T>A 466;11|15 Hom;T>A 555;0|16 N N - 14 70530706 70530706 C G snp intronic SLC8A3 Slc8a3 ENSG00000100678 solute carrier family 8 member A3 chr14:70510934-70655787 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] Tobacco Use Disorder; Iron; Cystic Fibrosis Mice homozygous for disruptions in this gene display a normal phenotype. Mitochondrial calcium ion transport GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006851;mitochondrial calcium ion transport;ISS|GO:0006874;cellular calcium ion homeostasis;ISS|GO:0007154;cell communication;IEA|GO:0007612;learning;ISS|GO:0007613;memory;ISS|GO:0014819;regulation of skeletal muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030001;metal ion transport;IEA|GO:0035725;sodium ion transmembrane transport;ISS|GO:0042552;myelination;ISS|GO:0048709;oligodendrocyte differentiation;ISS|GO:0051560;mitochondrial calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060291;long-term synaptic potentiation;ISS|GO:0060402;calcium ion transport into cytosol;IEA|GO:0070588;calcium ion transmembrane transport;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071456;cellular response to hypoxia;ISS|GO:0098703;calcium ion import across plasma membrane;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1990034;calcium ion export from cell;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016528;sarcoplasm;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0031594;neuromuscular junction;ISS|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0015297;antiporter activity;IEA|GO:0015368;calcium:cation antiporter activity;IEA|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A3 https://www.uniprot.org/uniprot/P57103 https://www.ncbi.nlm.nih.gov/omim/?term=607991 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A3&submit=Quick%0D%2583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A3 rs150956 0.682508 0 0 1 0 0 intronic intronic intronic SLC8A3 SLC8A3 ENSG00000100678 Na Na Na Na Na Na Het;C>G 678;18|26 Het;C>G 651;8|25 Hom;C>G 907;0|32 N N - 14 70634546 70634546 C T snp synonymous SNV G594A K198K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SLC8A3 Slc8a3 ENSG00000100678 solute carrier family 8 member A3 chr14:70510934-70655787 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] Tobacco Use Disorder; Iron; Cystic Fibrosis Mice homozygous for disruptions in this gene display a normal phenotype. Mitochondrial calcium ion transport GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006851;mitochondrial calcium ion transport;ISS|GO:0006874;cellular calcium ion homeostasis;ISS|GO:0007154;cell communication;IEA|GO:0007612;learning;ISS|GO:0007613;memory;ISS|GO:0014819;regulation of skeletal muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030001;metal ion transport;IEA|GO:0035725;sodium ion transmembrane transport;ISS|GO:0042552;myelination;ISS|GO:0048709;oligodendrocyte differentiation;ISS|GO:0051560;mitochondrial calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060291;long-term synaptic potentiation;ISS|GO:0060402;calcium ion transport into cytosol;IEA|GO:0070588;calcium ion transmembrane transport;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071456;cellular response to hypoxia;ISS|GO:0098703;calcium ion import across plasma membrane;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1990034;calcium ion export from cell;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016528;sarcoplasm;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0031594;neuromuscular junction;ISS|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0015297;antiporter activity;IEA|GO:0015368;calcium:cation antiporter activity;IEA|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A3 https://www.uniprot.org/uniprot/P57103 https://www.ncbi.nlm.nih.gov/omim/?term=607991 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A3&submit=Quick%0D%2583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A3 rs7161524 0.142372 0.1864 0.1652 1 0 0 exonic exonic exonic SLC8A3 SLC8A3 ENSG00000100678 synonymous SNV synonymous SNV unknown SLC8A3:NM_058240:exon2:c.G594A:p.K198K,SLC8A3:NM_033262:exon2:c.G594A:p.K198K,SLC8A3:NM_182932:exon2:c.G594A:p.K198K,SLC8A3:NM_183002:exon2:c.G594A:p.K198K, SLC8A3:uc001xlw.3:exon2:c.G594A:p.K198K,SLC8A3:uc001xly.3:exon2:c.G594A:p.K198K,SLC8A3:uc001xlx.3:exon2:c.G594A:p.K198K,SLC8A3:uc001xlz.3:exon2:c.G594A:p.K198K, UNKNOWN Het;C>T 1110;53|47 Het;C>T 1110;54|50 Hom;C>T 2396;2|87 N N - 14 71109153 71109153 C G snp nonsynonymous SNV C307G P103A hydrophobic,neutral aliphatic,hydrophobic,neutral TTC9 Ttc9 ENSG00000133985 tetratricopeptide repeat domain 9 chr14:71108504-71142077 This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009] Triglycerides Homozygous KO adult females display increased body, thymus and spleen weights and improved mammary development and sensitivity to estrogen. http://www.genecards.org/index.php?path=/Search/keyword/TTC9 https://www.uniprot.org/uniprot/Q92623 https://www.ncbi.nlm.nih.gov/omim/?term=610488 http://www.informatics.jax.org/searchtool/Search.do?query=TTC9&submit=Quick%0D%6892ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC9 rs4902834 0.841653 0.8698 0.8611 0.08 1 13 exonic exonic exonic TTC9 TTC9 ENSG00000133985 nonsynonymous SNV nonsynonymous SNV unknown TTC9:NM_015351:exon1:c.C307G:p.P103A, TTC9:uc001xmi.2:exon1:c.C307G:p.P103A, UNKNOWN Het;C>G 1122;41|48 Het;C>G 976;55|44 Hom;C>G 2435;0|87 N N - 14 71956309 71956309 C A snp ncRNA_exonic LOC145474 rs3088206 0.621006 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC145474 LOC145474 ENSG00000197555 Na Na Na Na Na Na Het;C>A 654;25|29 Het;C>A 458;41|21 Hom;C>A 2017;0|75 N N - 14 72169130 72169130 T C snp nonsynonymous SNV T3554C I1185T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SIPA1L1 Sipa1l1 ENSG00000197555 signal induced proliferation associated 1 like 1 chr14:71787166-72207946 von Willebrand Factor; Heart Function Tests Neurexins and neuroligins GO:0008150;biological_process;ND|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048013;ephrin receptor signaling pathway;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;ISS|GO:0051056;regulation of small GTPase mediated signal transduction;IEA|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0090630;activation of GTPase activity;ISS GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0003674;molecular_function;ND|GO:0005096;GTPase activator activity;IEA|GO:0046875;ephrin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIPA1L1 https://www.ncbi.nlm.nih.gov/omim/?term=617504 http://www.informatics.jax.org/searchtool/Search.do?query=SIPA1L1&submit=Quick%0D%16653ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIPA1L1 rs79937396 0.0103834 0.0284 0.0256 0.31 4 13 exonic exonic exonic SIPA1L1 SIPA1L1 ENSG00000197555 nonsynonymous SNV nonsynonymous SNV unknown SIPA1L1:NM_015556:exon12:c.T3554C:p.I1185T,SIPA1L1:NM_001284246:exon12:c.T3554C:p.I1185T,SIPA1L1:NM_001284247:exon11:c.T3554C:p.I1185T,SIPA1L1:NM_001284245:exon12:c.T3554C:p.I1185T, SIPA1L1:uc001xmv.3:exon11:c.T3554C:p.I1185T,SIPA1L1:uc001xmt.3:exon12:c.T3554C:p.I1185T,SIPA1L1:uc010ttm.2:exon11:c.T1979C:p.I660T,SIPA1L1:uc001xmu.3:exon12:c.T3554C:p.I1185T,SIPA1L1:uc001xms.3:exon12:c.T3554C:p.I1185T, UNKNOWN Het;T>C 1086;31|46 Het;T>C 1203;59|57 Hom;T>C 2303;0|79 N N - 14 72431330 72431330 T G snp intronic RGS6 Rgs6 ENSG00000182732 regulator of G protein signaling 6 chr14:72399156-73030654 This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011] kidney aging; Sleep; Ocular Physiological Phenomena; Body Height; Smoking Cessation; Hip; adiposity; Obesity; esophageal adenocarcinoma; C-Reactive Protein; lung cancer ; lung cancer; Waist Circumference; Socioeconomic Factors; bladder cancer; Tobacco Use Disorder; chronic obstructive pulmonary disease Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS6 https://www.ncbi.nlm.nih.gov/omim/?term=603894 http://www.informatics.jax.org/searchtool/Search.do?query=RGS6&submit=Quick%0D%14845ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS6 rs150228107 0.0101837 0 0 1 0 0 intronic intronic intronic RGS6 RGS6 ENSG00000182732 Na Na Na Na Na Na Het;T>G 74;2|3 Het;T>G 156;2|5 Hom;T>G 209;0|6 N N - 14 72531534 72531534 T C snp intronic RGS6 Rgs6 ENSG00000182732 regulator of G protein signaling 6 chr14:72399156-73030654 This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011] kidney aging; Sleep; Ocular Physiological Phenomena; Body Height; Smoking Cessation; Hip; adiposity; Obesity; esophageal adenocarcinoma; C-Reactive Protein; lung cancer ; lung cancer; Waist Circumference; Socioeconomic Factors; bladder cancer; Tobacco Use Disorder; chronic obstructive pulmonary disease Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS6 https://www.ncbi.nlm.nih.gov/omim/?term=603894 http://www.informatics.jax.org/searchtool/Search.do?query=RGS6&submit=Quick%0D%14845ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS6 rs4902983 0.691094 0 0 1 0 0 intronic intronic intronic RGS6 RGS6 ENSG00000182732 Na Na Na Na Na Na Het;T>C 232;3|7 Het;T>C 202;2|7 Hom;T>C 616;0|16 N N - 14 73096614 73096614 A C snp intronic DPF3 Dpf3 ENSG00000205683 double PHD fingers 3 chr14:73086004-73360809 This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Diabetes Mellitus; Cleft Lip|Cleft Palate|Tooth Abnormalities; breast cancer Mice homozygous for a null allele display no detectable phenotype. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;IEA|GO:0008150;biological_process;ND|GO:0016569;covalent chromatin modification;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0071565;nBAF complex;ISS GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DPF3 https://www.ncbi.nlm.nih.gov/omim/?term=601672 http://www.informatics.jax.org/searchtool/Search.do?query=DPF3&submit=Quick%0D%17548ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPF3 rs994759 0.560304 0 0 1 0 0 intronic intronic intronic DPF3 DPF3 ENSG00000205683 Na Na Na Na Na Na Het;A>C 96;4|4 Ref Hom;A>C 152;0|5 N N - 14 73138189 73138189 C A snp intronic DPF3 Dpf3 ENSG00000205683 double PHD fingers 3 chr14:73086004-73360809 This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Diabetes Mellitus; Cleft Lip|Cleft Palate|Tooth Abnormalities; breast cancer Mice homozygous for a null allele display no detectable phenotype. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007399;nervous system development;IEA|GO:0008150;biological_process;ND|GO:0016569;covalent chromatin modification;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0071565;nBAF complex;ISS GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DPF3 https://www.ncbi.nlm.nih.gov/omim/?term=601672 http://www.informatics.jax.org/searchtool/Search.do?query=DPF3&submit=Quick%0D%17548ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPF3 rs1060570 0.492212 0.4138 0.4562 1 0 0 intronic intronic intronic DPF3 DPF3 ENSG00000205683 Na Na Na Na Na Na Het;C>A 289;11|11 Het;C>A 165;9|8 Hom;C>A 325;0|11 N N - 14 73717452 73717452 T C snp intronic PAPLN Papln ENSG00000100767 papilin, proteoglycan like sulfated glycoprotein chr14:73704205-73741348 Tobacco Use Disorder; null GO:0006508;proteolysis;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAPLN https://www.uniprot.org/uniprot/O95428 http://www.informatics.jax.org/searchtool/Search.do?query=PAPLN&submit=Quick%0D%2595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPLN rs17182237 0.166933 0 0 1 0 0 intronic intronic intronic PAPLN PAPLN ENSG00000100767 Na Na Na Na Na Na Het;T>C 462;6|13 Ref Hom;T>C 141;0|4 N N - 14 73730290 73730290 C A snp intronic PAPLN Papln ENSG00000100767 papilin, proteoglycan like sulfated glycoprotein chr14:73704205-73741348 Tobacco Use Disorder; null GO:0006508;proteolysis;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAPLN https://www.uniprot.org/uniprot/O95428 http://www.informatics.jax.org/searchtool/Search.do?query=PAPLN&submit=Quick%0D%2595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPLN rs177385 0.665335 0 0.7553 1 0 0 intronic intronic intronic PAPLN PAPLN ENSG00000100767 Na Na Na Na Na Na Het;C>A 194;9|8 Het;C>A 235;20|12 Hom;C>A 745;0|30 N N - 14 73989859 73989859 C T snp UTR5 -3G>A HEATR4 Heatr4 ENSG00000187105 HEAT repeat containing 4 chr14:73945189-74025651 http://www.genecards.org/index.php?path=/Search/keyword/HEATR4 http://www.informatics.jax.org/searchtool/Search.do?query=HEATR4&submit=Quick%0D%15779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HEATR4 rs1074501 0.680112 0 0.7415 1 0 0 UTR5 UTR5 ncRNA_intronic HEATR4(NM_001220484:c.-3G>A,NM_203309:c.-3G>A) HEATR4(uc021rwe.1:c.-3G>A,uc021rwf.2:c.-3G>A,uc010tub.1:c.-3G>A) ENSG00000258695 Na Na Na Na Na Na Het;C>T 778;34|28 Het;C>T 704;29|24 Hom;C>T 1533;2|49 N N - 14 74061968 74061968 T C snp synonymous SNV T876C I292I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ACOT4 Acot4 ENSG00000177465 acyl-CoA thioesterase 4 chr14:74058410-74063200 Beta-oxidation of very long chain fatty acids GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006104;succinyl-CoA metabolic process;IDA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0032788;saturated monocarboxylic acid metabolic process;IDA|GO:0032789;unsaturated monocarboxylic acid metabolic process;IDA|GO:0043648;dicarboxylic acid metabolic process;IDA|GO:0043649;dicarboxylic acid catabolic process;IDA|GO:0046459;short-chain fatty acid metabolic process;IDA GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS GO:0004778;succinyl-CoA hydrolase activity;IDA|GO:0005102;receptor binding;IPI|GO:0016290;palmitoyl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0102991;myristoyl-CoA hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOT4 https://www.ncbi.nlm.nih.gov/omim/?term=614314 http://www.informatics.jax.org/searchtool/Search.do?query=ACOT4&submit=Quick%0D%14029ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT4 rs2010070 0.861821 0.7994 0.7736 1 0 0 exonic exonic exonic ACOT4 ACOT4 ENSG00000177465 synonymous SNV synonymous SNV unknown ACOT4:NM_152331:exon3:c.T876C:p.I292I, ACOT4:uc001xoo.3:exon3:c.T876C:p.I292I, UNKNOWN Het;T>C 2410;76|100 Het;T>C 2259;88|98 Hom;T>C 4611;0|159 N N - 14 74079486 74079486 A C snp intronic ACOT6 ENSG00000205669 acyl-CoA thioesterase 6 chr14:74077649-74086592 Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. Beta-oxidation of very long chain fatty acids GO:0006631;fatty acid metabolic process;IBA|GO:0006637;acyl-CoA metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005829;cytosol;IDA GO:0016787;hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOT6 https://www.ncbi.nlm.nih.gov/omim/?term=614267 http://www.informatics.jax.org/searchtool/Search.do?query=ACOT6&submit=Quick%0D%17545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT6 rs12587206 0.60643 0 0 1 0 0 intergenic intergenic intronic ACOT4(dist=17016),ACOT6(dist=4062) ACOT4(dist=17016),ACOT6(dist=4062) ENSG00000205669 Na Na Na Na Na Na Het;A>C 747;17|26 Het;A>C 320;38|17 Hom;A>C 748;0|27 N N - 14 74166200 74166200 C CGTT indel UTR3 *3555C>CGTT DNAL1 Dnal1 ENSG00000119661 dynein axonemal light chain 1 chr14:74111578-74170435 This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease http://www.genecards.org/index.php?path=/Search/keyword/DNAL1 https://www.uniprot.org/uniprot/Q4LDG9 https://hpo.jax.org/app/browse/search?q=DNAL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610062 http://www.informatics.jax.org/searchtool/Search.do?query=DNAL1&submit=Quick%0D%5091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAL1 rs397953948 0.30651 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic DNAL1(NM_031427:c.*3555C>CGTT,NM_001201366:c.*3555C>CGTT) DNAL1(uc010aru.3:c.*3555C>CGTT,uc001xoq.4:c.*3555C>CGTT) ENSG00000258660 Na Na Na Na Na Na Het;+GTT 44;1|2 Ref Hom;+GTT 188;0|4 N N - 14 74269778 74269778 G C snp ncRNA_exonic LOC100506476 rs11624703 0.172923 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC100506476 ELMSAN1(dist=15882),BC038204(dist=19484) ENSG00000259065 Na Na Na Na Na Na Het;G>C 2426;96|99 Het;G>C 2148;91|90 Hom;G>C 5165;3|186 N N - 14 74665543 74665543 G A snp intronic LIN52 Lin52 ENSG00000205659 lin-52 DREAM MuvB core complex component chr14:74551499-74667936 Blood Pressure Determination; Circadian Rhythm; Tobacco Use Disorder; Coronary Artery Disease Cyclin A:Cdk2-associated events at S phase entry GO:0006351;transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0051726;regulation of cell cycle;TAS GO:0005654;nucleoplasm;TAS|GO:0070176;DRM complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIN52 http://www.informatics.jax.org/searchtool/Search.do?query=LIN52&submit=Quick%0D%17543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN52 rs10145171 0.437899 0 0 1 0 0 intronic intronic intronic LIN52 LIN52 ENSG00000205659 Na Na Na Na Na Na Het;G>A 126;13|7 Het;G>A 180;8|8 Hom;G>A 1040;0|35 N N - 14 74960368 74960370 TGG T indel upstream ISCA2 Isca2 ENSG00000165898 iron-sulfur cluster assembly 2 chr14:74960423-74963809 The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial iron-sulfur cluster biogenesis GO:0016226;iron-sulfur cluster assembly;IBA|GO:0044281;small molecule metabolic process;TAS|GO:0051604;protein maturation;IBA|GO:0097428;protein maturation by iron-sulfur cluster transfer;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0005198;structural molecule activity;IEA|GO:0005506;iron ion binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IBA|GO:0051539;4 iron, 4 sulfur cluster binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ISCA2 https://hpo.jax.org/app/browse/search?q=ISCA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615317 http://www.informatics.jax.org/searchtool/Search.do?query=ISCA2&submit=Quick%0D%11649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ISCA2 rs3047739 0.644768 0 0 1 0 0 upstream upstream intronic ISCA2,NPC2 ISCA2,NPC2 ENSG00000119655 Na Na Na Na Na Na Het;-GG 384;2|11 Het;-GG 100;6|4 Hom;-GG 674;0|17 N N - 14 75139936 75139936 C G snp intronic AREL1 Arel1 ENSG00000119682 apoptosis resistant E3 ubiquitin protein ligase 1 chr14:75120140-75179818 Tobacco Use Disorder Antigen processing: Ubiquitination & Proteasome degradation GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AREL1 https://www.uniprot.org/uniprot/O15033 https://www.ncbi.nlm.nih.gov/omim/?term=615380 http://www.informatics.jax.org/searchtool/Search.do?query=AREL1&submit=Quick%0D%5095ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AREL1 rs11844127 0.369209 0.3070 0.2791 1 0 0 intronic intronic intronic AREL1 AREL1 ENSG00000119682 Na Na Na Na Na Na Het;C>G 870;11|31 Het;C>G 477;22|19 Hom;C>G 987;0|35 N N - 14 75179734 75179734 C G snp unknown ENSG00000214670 rs2270425 0.365216 0 0.4027 1 0 0 UTR5 UTR5 exonic AREL1(NM_001039479:c.-27416G>C) AREL1(uc001xqb.3:c.-27416G>C,uc010tut.1:c.-36281G>C) ENSG00000214670 Na Na unknown Na Na UNKNOWN Het;C>G 115;5|4 Het;C>G 67;8|3 Hom;C>G 483;0|12 N N - 14 75180342 75180342 G GT indel intronic FCF1 Fcf1 ENSG00000119616 FCF1, rRNA-processing protein chr14:75179847-75203394 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0000480;endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0032040;small-subunit processome;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FCF1 https://www.uniprot.org/uniprot/Q9Y324 http://www.informatics.jax.org/searchtool/Search.do?query=FCF1&submit=Quick%0D%5083ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCF1 rs3214407 0.247604 0 0 1 0 0 intronic intronic intronic FCF1 FCF1 ENSG00000119616 Na Na Na Na Na Na Het;+T 653;15|28 Het;+T 369;20|18 Hom;+T 1168;0|41 N N - 14 75200653 75200653 C T snp intronic FCF1 Fcf1 ENSG00000119616 FCF1, rRNA-processing protein chr14:75179847-75203394 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0000480;endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0032040;small-subunit processome;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FCF1 https://www.uniprot.org/uniprot/Q9Y324 http://www.informatics.jax.org/searchtool/Search.do?query=FCF1&submit=Quick%0D%5083ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCF1 rs3784021 0.246805 0 0 1 0 0 intronic intronic intronic FCF1 FCF1 ENSG00000119616 Na Na Na Na Na Na Het;C>T 162;5|6 Het;C>T 195;5|7 Hom;C>T 199;0|6 N N - 14 75200697 75200697 G A snp intronic FCF1 Fcf1 ENSG00000119616 FCF1, rRNA-processing protein chr14:75179847-75203394 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0000480;endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0032040;small-subunit processome;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FCF1 https://www.uniprot.org/uniprot/Q9Y324 http://www.informatics.jax.org/searchtool/Search.do?query=FCF1&submit=Quick%0D%5083ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCF1 rs3825708 0.710264 0 0 1 0 0 intronic intronic intronic FCF1 FCF1 ENSG00000119616 Na Na Na Na Na Na Het;G>A 307;18|12 Het;G>A 345;20|15 Hom;G>A 650;0|22 N N - 14 75245368 75245368 C T snp synonymous SNV C1092T L364L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral YLPM1 Ylpm1 ENSG00000119596 YLP motif containing 1 chr14:75230069-75322244 Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YLPM1 https://www.uniprot.org/uniprot/P49750 http://www.informatics.jax.org/searchtool/Search.do?query=YLPM1&submit=Quick%0D%5079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YLPM1 rs57404741 0.190495 0.1331 0.2126 1 0 0 exonic exonic exonic YLPM1 YLPM1 ENSG00000119596 synonymous SNV synonymous SNV unknown YLPM1:NM_019589:exon2:c.C1092T:p.L364L, YLPM1:uc001xqj.4:exon2:c.C1092T:p.L364L, UNKNOWN Het;C>T 644;35|31 Het;C>T 545;23|23 Hom;C>T 1272;0|44 N N - 14 75248669 75248669 G T snp synonymous SNV G1923T G641G aliphatic,neutral aliphatic,neutral YLPM1 Ylpm1 ENSG00000119596 YLP motif containing 1 chr14:75230069-75322244 Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YLPM1 https://www.uniprot.org/uniprot/P49750 http://www.informatics.jax.org/searchtool/Search.do?query=YLPM1&submit=Quick%0D%5079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YLPM1 rs2287401 0.189297 0.1319 0.1717 1 0 0 exonic exonic exonic YLPM1 YLPM1 ENSG00000119596 synonymous SNV synonymous SNV unknown YLPM1:NM_019589:exon4:c.G1923T:p.G641G, YLPM1:uc001xqj.4:exon4:c.G1923T:p.G641G, UNKNOWN Het;G>T 1376;82|64 Het;G>T 1179;77|55 Hom;G>T 3428;2|126 N N - 14 75278181 75278181 A C snp intronic YLPM1 Ylpm1 ENSG00000119596 YLP motif containing 1 chr14:75230069-75322244 Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YLPM1 https://www.uniprot.org/uniprot/P49750 http://www.informatics.jax.org/searchtool/Search.do?query=YLPM1&submit=Quick%0D%5079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YLPM1 rs12896360 0.636581 0 0 1 0 0 intronic intronic intronic YLPM1 YLPM1 ENSG00000119596 Na Na Na Na Na Na Het;A>C 79;1|3 Ref Hom;A>C 208;0|6 N N - 14 75278302 75278302 G A snp intronic YLPM1 Ylpm1 ENSG00000119596 YLP motif containing 1 chr14:75230069-75322244 Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YLPM1 https://www.uniprot.org/uniprot/P49750 http://www.informatics.jax.org/searchtool/Search.do?query=YLPM1&submit=Quick%0D%5079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YLPM1 rs8022046 0.727636 0.6949 0.7084 1 0 0 intronic intronic intronic YLPM1 YLPM1 ENSG00000119596 Na Na Na Na Na Na Het;G>A 931;30|40 Het;G>A 731;28|33 Hom;G>A 1828;0|64 N N - 14 75279395 75279395 T A snp synonymous SNV T5412A P1804P hydrophobic,neutral hydrophobic,neutral YLPM1 Ylpm1 ENSG00000119596 YLP motif containing 1 chr14:75230069-75322244 Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YLPM1 https://www.uniprot.org/uniprot/P49750 http://www.informatics.jax.org/searchtool/Search.do?query=YLPM1&submit=Quick%0D%5079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YLPM1 rs2302834 0.728235 0.7007 0.7058 1 0 0 exonic exonic exonic YLPM1 YLPM1 ENSG00000119596 synonymous SNV synonymous SNV unknown YLPM1:NM_019589:exon11:c.T5412A:p.P1804P, YLPM1:uc001xqj.4:exon11:c.T5412A:p.P1804P,YLPM1:uc001xqm.1:exon5:c.T861A:p.P287P, UNKNOWN Het;T>A 1270;76|60 Het;T>A 907;63|46 Hom;T>A 3487;0|127 N N - 14 76173860 76173860 T A snp intronic TTLL5 Ttll5 ENSG00000119685 tubulin tyrosine ligase like 5 chr14:76099968-76421421 This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010] Body Height Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. Carboxyterminal post-translational modifications of tubulin GO:0006351;transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;IEA|GO:0007283;spermatogenesis;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0009566;fertilization;IEA|GO:0018095;protein polyglutamylation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0060041;retina development in camera-type eye;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0070740;tubulin-glutamic acid ligase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TTLL5 https://www.uniprot.org/uniprot/Q6EMB2 https://hpo.jax.org/app/browse/search?q=TTLL5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612268 http://www.informatics.jax.org/searchtool/Search.do?query=TTLL5&submit=Quick%0D%5097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL5 rs1005224 0.505791 0 0 1 0 0 intronic intronic intronic TTLL5 TTLL5 ENSG00000119685 Na Na Na Na Na Na Het;T>A 106;4|4 Ref Hom;T>A 422;0|12 N N - 14 76548783 76548789 GGACCTT G indel UTR3 *69_*69delinsG IFT43 Ift43 ENSG00000119650 intraflagellar transport 43 chr14:76368479-76550928 This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Blood Pressure Intraflagellar transport GO:0030030;cell projection organization;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0030991;intraciliary transport particle A;IDA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFT43 https://www.uniprot.org/uniprot/Q96FT9 https://hpo.jax.org/app/browse/search?q=IFT43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614068 http://www.informatics.jax.org/searchtool/Search.do?query=IFT43&submit=Quick%0D%5089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT43 rs137916626 0.296326 0 0 1 0 0 intronic UTR3 intronic IFT43 IFT43(uc010asl.1:c.*69_*69delinsG) ENSG00000119650 Na Na Na Na Na Na Het;-GACCTT 322;21|11 Het;-GACCTT 572;7|15 Hom;-GACCTT 663;0|16 N N - 14 76549752 76549752 G A snp intronic IFT43 Ift43 ENSG00000119650 intraflagellar transport 43 chr14:76368479-76550928 This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Blood Pressure Intraflagellar transport GO:0030030;cell projection organization;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0030991;intraciliary transport particle A;IDA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFT43 https://www.uniprot.org/uniprot/Q96FT9 https://hpo.jax.org/app/browse/search?q=IFT43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614068 http://www.informatics.jax.org/searchtool/Search.do?query=IFT43&submit=Quick%0D%5089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT43 rs8536 0.295527 0.2934 0.3584 1 0 0 intronic intronic intronic IFT43 IFT43 ENSG00000119650 Na Na Na Na Na Na Het;G>A 605;16|25 Het;G>A 447;26|20 Hom;G>A 782;0|26 N N - 14 76550346 76550346 C T snp UTR3 *300C>T IFT43 Ift43 ENSG00000119650 intraflagellar transport 43 chr14:76368479-76550928 This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Blood Pressure Intraflagellar transport GO:0030030;cell projection organization;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0030991;intraciliary transport particle A;IDA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFT43 https://www.uniprot.org/uniprot/Q96FT9 https://hpo.jax.org/app/browse/search?q=IFT43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614068 http://www.informatics.jax.org/searchtool/Search.do?query=IFT43&submit=Quick%0D%5089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT43 rs997237 0.294529 0 0.3218 1 0 0 downstream downstream UTR3 IFT43 IFT43 ENSG00000119650(ENST00000542766:c.*300C>T) Na Na Na Na Na Na Het;C>T 2842;88|113 Het;C>T 2206;156|104 Hom;C>T 5742;3|212 N N - 14 76550492 76550492 G A snp downstream IFT43 Ift43 ENSG00000119650 intraflagellar transport 43 chr14:76368479-76550928 This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Blood Pressure Intraflagellar transport GO:0030030;cell projection organization;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0030991;intraciliary transport particle A;IDA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFT43 https://www.uniprot.org/uniprot/Q96FT9 https://hpo.jax.org/app/browse/search?q=IFT43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614068 http://www.informatics.jax.org/searchtool/Search.do?query=IFT43&submit=Quick%0D%5089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT43 rs741513 0.601438 0 0 1 0 0 downstream downstream downstream IFT43 IFT43 ENSG00000119650 Na Na Na Na Na Na Het;G>A 827;14|33 Het;G>A 864;29|34 Hom;G>A 1322;0|48 N N - 14 77017950 77017951 CT C indel ncRNA_intronic AC008050.1 rs34212927 0.259784 0 0 1 0 0 intergenic intergenic ncRNA_intronic ESRRB(dist=49770),VASH1(dist=210284) ESRRB(dist=49770),Mir_384(dist=172715) ENSG00000259124 Na Na Na Na Na Na Het;-T 424;6|15 Ref Hom;-T 713;0|21 N N - 14 77825746 77825746 A C snp intronic TMED8 Tmed8 ENSG00000100580 transmembrane p24 trafficking protein family member 8 chr14:77801364-77843452 GO:0006810;transport;IEA GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMED8 https://www.uniprot.org/uniprot/Q6PL24 http://www.informatics.jax.org/searchtool/Search.do?query=TMED8&submit=Quick%0D%2558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMED8 rs8022676 0.718251 0 0 1 0 0 intronic intronic intronic TMED8 TMED8 ENSG00000100580 Na Na Na Na Na Na Het;A>C 151;4|6 Ref Hom;A>C 350;0|14 N N - 14 77843814 77843814 T C snp nonsynonymous SNV T53C L18P aliphatic,hydrophobic,neutral hydrophobic,neutral SAMD15 Samd15 ENSG00000100583 sterile alpha motif domain containing 15 chr14:77843032-77857840 GO:0000027;ribosomal large subunit assembly;IBA|GO:0006364;rRNA processing;IBA GO:0030687;preribosome, large subunit precursor;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAMD15 https://www.uniprot.org/uniprot/Q9P1V8 http://www.informatics.jax.org/searchtool/Search.do?query=SAMD15&submit=Quick%0D%2559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD15 rs11844594 0.513179 0.5886 0.4829 0.08 1 13 exonic exonic exonic SAMD15 SAMD15 ENSG00000100583 nonsynonymous SNV nonsynonymous SNV unknown SAMD15:NM_001010860:exon1:c.T53C:p.L18P, SAMD15:uc001xtq.1:exon1:c.T53C:p.L18P,SAMD15:uc021rwt.1:exon1:c.T53C:p.L18P, UNKNOWN Het;T>C 725;29|28 Het;T>C 890;42|40 Hom;T>C 2110;0|74 N N - 14 77844869 77844869 A G snp nonsynonymous SNV A1108G K370E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) SAMD15 Samd15 ENSG00000100583 sterile alpha motif domain containing 15 chr14:77843032-77857840 GO:0000027;ribosomal large subunit assembly;IBA|GO:0006364;rRNA processing;IBA GO:0030687;preribosome, large subunit precursor;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAMD15 https://www.uniprot.org/uniprot/Q9P1V8 http://www.informatics.jax.org/searchtool/Search.do?query=SAMD15&submit=Quick%0D%2559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD15 rs4903576 0.523163 0.5961 0.4845 0.08 1 13 exonic exonic exonic SAMD15 SAMD15 ENSG00000100583 nonsynonymous SNV nonsynonymous SNV unknown SAMD15:NM_001010860:exon1:c.A1108G:p.K370E, SAMD15:uc001xtq.1:exon1:c.A1108G:p.K370E,SAMD15:uc021rwt.1:exon1:c.A1108G:p.K370E, UNKNOWN Het;A>G 601;28|24 Het;A>G 895;14|37 Hom;A>G 1885;0|69 N N - 14 77845121 77845121 A G snp nonsynonymous SNV A1360G K454E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) SAMD15 Samd15 ENSG00000100583 sterile alpha motif domain containing 15 chr14:77843032-77857840 GO:0000027;ribosomal large subunit assembly;IBA|GO:0006364;rRNA processing;IBA GO:0030687;preribosome, large subunit precursor;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAMD15 https://www.uniprot.org/uniprot/Q9P1V8 http://www.informatics.jax.org/searchtool/Search.do?query=SAMD15&submit=Quick%0D%2559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD15 rs2193595 0.512979 0.5881 0.4823 0.08 1 12 exonic exonic exonic SAMD15 SAMD15 ENSG00000100583 nonsynonymous SNV nonsynonymous SNV unknown SAMD15:NM_001010860:exon1:c.A1360G:p.K454E, SAMD15:uc001xtq.1:exon1:c.A1360G:p.K454E,SAMD15:uc021rwt.1:exon1:c.A1360G:p.K454E, UNKNOWN Het;A>G 2063;90|87 Het;A>G 1846;76|83 Hom;A>G 4521;2|162 N N - 14 78197365 78197365 C T snp synonymous SNV G999A E333E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SNW1 Snw1 ENSG00000100603 SNW domain containing 1 chr14:78183942-78227550 This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Asthma| RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000350;generation of catalytic spliceosome for second transesterification step;IBA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006397;mRNA processing;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0008380;RNA splicing;IEA|GO:0014010;Schwann cell proliferation;IEA|GO:0016032;viral process;IEA|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:0043923;positive regulation by host of viral transcription;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048026;positive regulation of mRNA splicing, via spliceosome;IMP|GO:0048384;retinoic acid receptor signaling pathway;IDA|GO:0048385;regulation of retinoic acid receptor signaling pathway;IDA|GO:0050769;positive regulation of neurogenesis;ISS|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0070562;regulation of vitamin D receptor signaling pathway;IDA|GO:0070564;positive regulation of vitamin D receptor signaling pathway;IDA|GO:0071300;cellular response to retinoic acid;IDA GO:0000785;chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IDA|GO:0005737;cytoplasm;IEA|GO:0008024;cyclin/CDK positive transcription elongation factor complex;IDA|GO:0016363;nuclear matrix;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA|GO:0071013;catalytic step 2 spliceosome;IDA|GO:0071014;post-mRNA release spliceosomal complex;IBA|GO:0071141;SMAD protein complex;IEA|GO:0071146;SMAD3-SMAD4 protein complex;IDA GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0003723;RNA binding;IDA|GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035257;nuclear hormone receptor binding;IDA|GO:0042809;vitamin D receptor binding;IDA|GO:0042974;retinoic acid receptor binding;IDA|GO:0046332;SMAD binding;IDA|GO:0050681;androgen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNW1 https://www.uniprot.org/uniprot/Q13573 https://www.ncbi.nlm.nih.gov/omim/?term=603055 http://www.informatics.jax.org/searchtool/Search.do?query=SNW1&submit=Quick%0D%2567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNW1 rs114763 0.622404 0.5327 0.5712 1 0 0 exonic exonic exonic SNW1 SNW1 ENSG00000100603 synonymous SNV synonymous SNV unknown SNW1:NM_012245:exon10:c.G999A:p.E333E, SNW1:uc010tvm.2:exon10:c.G774A:p.E258E,SNW1:uc001xuf.3:exon10:c.G999A:p.E333E,SNW1:uc010tvn.1:exon10:c.G999A:p.E333E, UNKNOWN Het;C>T 204;29|13 Het;C>T 685;38|34 Hom;C>T 1570;0|57 N N - 14 78353797 78353797 A G snp intronic ADCK1 Adck1 ENSG00000063761 aarF domain containing kinase 1 chr14:78266426-78401355 Acquired Immunodeficiency Syndrome|Disease Progression GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0005576;extracellular region;IEA GO:0000166;nucleotide binding;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCK1 https://www.uniprot.org/uniprot/Q86TW2 http://www.informatics.jax.org/searchtool/Search.do?query=ADCK1&submit=Quick%0D%1112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK1 rs2287649 0.132388 0 0 1 0 0 intronic intronic intronic ADCK1 ADCK1 ENSG00000063761 Na Na Na Na Na Na Het;A>G 120;1|4 Het;A>G 123;1|4 Hom;A>G 169;0|5 N N - 14 78390880 78390880 T C snp synonymous SNV T735C N245N polar,hydrophilic,neutral polar,hydrophilic,neutral ADCK1 Adck1 ENSG00000063761 aarF domain containing kinase 1 chr14:78266426-78401355 Acquired Immunodeficiency Syndrome|Disease Progression GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0005576;extracellular region;IEA GO:0000166;nucleotide binding;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCK1 https://www.uniprot.org/uniprot/Q86TW2 http://www.informatics.jax.org/searchtool/Search.do?query=ADCK1&submit=Quick%0D%1112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK1 rs2302944 0.234625 0.2002 0.2301 1 0 0 exonic exonic exonic ADCK1 ADCK1 ENSG00000063761 synonymous SNV synonymous SNV unknown ADCK1:NM_001142545:exon7:c.T735C:p.N245N,ADCK1:NM_020421:exon8:c.T939C:p.N313N, ADCK1:uc001xul.3:exon1:c.T60C:p.N20N,ADCK1:uc001xuj.3:exon7:c.T735C:p.N245N,ADCK1:uc001xuk.1:exon5:c.T561C:p.N187N,ADCK1:uc001xui.3:exon8:c.T939C:p.N313N, UNKNOWN Het;T>C 2691;102|115 Het;T>C 2649;119|126 Hom;T>C 6708;0|248 N N - 14 79176133 79176133 G T snp ncRNA_intronic AC009396.3 rs12147248 0.541534 0 0 1 0 0 intronic intronic ncRNA_intronic NRXN3 NRXN3 ENSG00000258874 Na Na Na Na Na Na Het;G>T 144;4|6 Het;G>T 362;9|11 Hom;G>T 394;0|10 N N - 14 79176154 79176154 G C snp ncRNA_intronic AC009396.3 rs12147249 0.541534 0 0 1 0 0 intronic intronic ncRNA_intronic NRXN3 NRXN3 ENSG00000258874 Na Na Na Na Na Na Het;G>C 47;3|2 Het;G>C 203;6|6 Hom;G>C 285;0|7 N N - 14 81297385 81297385 G A snp UTR3 *39C>T CEP128 Cep128 ENSG00000100629 centrosomal protein 128 chr14:80943330-81425861 Hemoglobins; Coronary Artery Disease; Lipoproteins; Tobacco Use Disorder GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP128 https://www.uniprot.org/uniprot/Q6ZU80 http://www.informatics.jax.org/searchtool/Search.do?query=CEP128&submit=Quick%0D%2575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP128 rs7156572 0.610423 0 0.5966 1 0 0 intronic UTR3 UTR3 CEP128 CEP128(uc001xuy.1:c.*39C>T) ENSG00000100629(ENST00000554827:c.*39C>T) Na Na Na Na Na Na Het;G>A 225;10|9 Het;G>A 347;11|15 Hom;G>A 693;0|21 N N - 14 81307218 81307218 T G snp intronic CEP128 Cep128 ENSG00000100629 centrosomal protein 128 chr14:80943330-81425861 Hemoglobins; Coronary Artery Disease; Lipoproteins; Tobacco Use Disorder GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP128 https://www.uniprot.org/uniprot/Q6ZU80 http://www.informatics.jax.org/searchtool/Search.do?query=CEP128&submit=Quick%0D%2575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP128 rs7142753 0.358427 0 0 1 0 0 intronic intronic intronic CEP128 CEP128 ENSG00000100629 Na Na Na Na Na Na Het;T>G 961;21|28 Het;T>G 640;14|19 Hom;T>G 1320;0|34 N N - 14 81667852 81667852 A T snp intronic GTF2A1 Gtf2a1 ENSG00000165417 general transcription factor IIA subunit 1 chr14:81641796-81687721 Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010] breast cancer ; stomach cancer Mice homozygous for a hypomorphic allele where D/G cleavage residues are replaced with noncleavable A/A show neonatal lethality, feeding defects, low testis weight, and male infertility associated with azoospermia, small seminiferous tubules, lack of elongating spermatids, and increased apoptosis. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005672;transcription factor TFIIA complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001103;RNA polymerase II repressing transcription factor binding;IEA|GO:0003677;DNA binding;IDA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0017025;TBP-class protein binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GTF2A1 https://www.ncbi.nlm.nih.gov/omim/?term=600520 http://www.informatics.jax.org/searchtool/Search.do?query=GTF2A1&submit=Quick%0D%11535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2A1 rs8019633 0.928714 0 0 1 0 0 intronic intronic intronic GTF2A1 GTF2A1 ENSG00000165417 Na Na Na Na Na Na Het;A>T 315;9|10 Het;A>T 56;11|4 Hom;A>T 311;0|11 N N - 14 82128453 82128453 G A snp ncRNA_exonic EEF1A1P2 rs9671793 0.816494 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01467(dist=39048),NONE(dist=NONE) BC029835(dist=39048),Mir_633(dist=329143) ENSG00000258841 Na Na Na Na Na Na Het;G>A 617;9|16 Het;G>A 158;8|5 Hom;G>A 582;0|14 N N - 14 82128454 82128454 T C snp ncRNA_exonic EEF1A1P2 rs9671352 0.816294 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01467(dist=39049),NONE(dist=NONE) BC029835(dist=39049),Mir_633(dist=329142) ENSG00000258841 Na Na Na Na Na Na Het;T>C 617;9|16 Het;T>C 158;8|5 Hom;T>C 582;0|13 N N - 14 82128746 82128746 A G snp ncRNA_exonic EEF1A1P2 rs2209889 0.815695 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01467(dist=39341),NONE(dist=NONE) BC029835(dist=39341),Mir_633(dist=328850) ENSG00000258841 Na Na Na Na Na Na Het;A>G 422;12|19 Het;A>G 156;7|7 Hom;A>G 978;0|36 N N - 14 82128836 82128836 G A snp ncRNA_exonic EEF1A1P2 rs2209890 0.815495 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01467(dist=39431),NONE(dist=NONE) BC029835(dist=39431),Mir_633(dist=328760) ENSG00000258841 Na Na Na Na Na Na Het;G>A 347;12|17 Het;G>A 267;8|12 Hom;G>A 1020;0|38 N N - 14 82129033 82129033 T C snp ncRNA_exonic EEF1A1P2 rs6574674 0.816094 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01467(dist=39628),NONE(dist=NONE) BC029835(dist=39628),Mir_633(dist=328563) ENSG00000258841 Na Na Na Na Na Na Het;T>C 100;1|6 Het;T>C 292;3|12 Hom;T>C 385;0|14 N N - 14 82138999 82138999 A G snp intergenic LINC01467 rs7157501 0.567492 0 0 1 0 0 intergenic intergenic intergenic LINC01467(dist=49594),NONE(dist=NONE) BC029835(dist=49594),Mir_633(dist=318597) ENSG00000258841(dist=9781),ENSG00000258718(dist=55125) Na Na Na Na Na Na Het;A>G 364;22|19 Het;A>G 239;11|13 Hom;A>G 769;0|32 N N - 14 83639025 83639025 A G snp intergenic LINC01467 rs11159573 0.71226 0 0 1 0 0 intergenic intergenic intergenic LINC01467(dist=1549620),NONE(dist=NONE) Mir_633(dist=1181356),NONE(dist=NONE) ENSG00000252369(dist=124041),ENSG00000238561(dist=577703) Na Na Na Na Na Na Het;A>G 328;12|10 Het;A>G 656;24|18 Hom;A>G 1415;0|33 N N - 14 83639047 83639047 T C snp intergenic LINC01467 rs10484151 0.71226 0 0 1 0 0 intergenic intergenic intergenic LINC01467(dist=1549642),NONE(dist=NONE) Mir_633(dist=1181378),NONE(dist=NONE) ENSG00000252369(dist=124063),ENSG00000238561(dist=577681) Na Na Na Na Na Na Het;T>C 272;12|8 Het;T>C 656;24|18 Hom;T>C 1415;0|33 N N - 14 83988886 83988886 C T snp intergenic LINC01467 rs1241912 0.495407 0 0 1 0 0 intergenic intergenic intergenic LINC01467(dist=1899481),LINC00911(dist=1871337) Mir_633(dist=1531217),Mir_548(dist=1663048) ENSG00000252369(dist=473902),ENSG00000238561(dist=227842) Na Na Na Na Na Na Het;C>T 191;7|7 Het;C>T 208;10|9 Hom;C>T 710;0|20 N N - 14 84389219 84389219 C CTT indel intergenic NONE rs34570639 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LINC00911(dist=1471004) Mir_633(dist=1931550),Mir_548(dist=1262715) ENSG00000258532(dist=7825),ENSG00000258762(dist=249966) Na Na Na Na Na Na Het;+TT 350;11|10 Het;+TT 353;10|10 Hom;+TT 548;0|13 N N - 14 84688652 84688652 C T snp intergenic NONE rs12435774 0.592851 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LINC00911(dist=1171571) NONE(dist=NONE),Mir_548(dist=963282) ENSG00000259012(dist=45220),ENSG00000251895(dist=517634) Na Na Na Na Na Na Het;C>T 33;2|2 Ref Hom;C>T 134;0|5 N N - 14 88188859 88188859 C CACACACACAT indel ncRNA_intronic AL359237.1 Na 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC283585(dist=799760),GALC(dist=210499) LOC283585(dist=799760),NONE(dist=NONE) ENSG00000258807 Na Na Na Na Na Na Het;+ACACACACAT 264;2|5 Ref Hom;+ACACACACAT 385;0|10 N N - 14 91928700 91928700 G A snp intronic SMEK1 rs2273649 0.912141 0 0 1 0 0 intronic intronic intronic SMEK1 SMEK1 ENSG00000100796 Na Na Na Na Na Na Het;G>A 111;2|4 Ref Hom;G>A 235;0|7 N N - 14 92347468 92347469 CA C indel intronic FBLN5 Fbln5 ENSG00000140092 fibulin 5 chr14:92335756-92414331 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Alcoholism; Height; Macular Degeneration|Vision, Low; atherosclerosis; Triglycerides; macular degeneration; Aortic Aneurysm, Abdominal; height; Lipids; Asthma; Body Height Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. Molecules associated with elastic fibres GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0034394;protein localization to cell surface;ISS|GO:0046903;secretion;IDA|GO:0048251;elastic fiber assembly;IMP|GO:2000121;regulation of removal of superoxide radicals;ISS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071953;elastic fiber;ISS GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBLN5 https://www.uniprot.org/uniprot/Q9UBX5 https://hpo.jax.org/app/browse/search?q=FBLN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604580 http://www.informatics.jax.org/searchtool/Search.do?query=FBLN5&submit=Quick%0D%7978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBLN5 rs768871059 0 0 0 1 0 0 intronic intronic intronic FBLN5 FBLN5 ENSG00000140092 Na Na Na Na Na Na Het;-A 125;2|4 Ref Hom;-A 188;0|5 N N - 14 92347470 92347477 CACACACA C indel intronic FBLN5 Fbln5 ENSG00000140092 fibulin 5 chr14:92335756-92414331 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Alcoholism; Height; Macular Degeneration|Vision, Low; atherosclerosis; Triglycerides; macular degeneration; Aortic Aneurysm, Abdominal; height; Lipids; Asthma; Body Height Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. Molecules associated with elastic fibres GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0034394;protein localization to cell surface;ISS|GO:0046903;secretion;IDA|GO:0048251;elastic fiber assembly;IMP|GO:2000121;regulation of removal of superoxide radicals;ISS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071953;elastic fiber;ISS GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBLN5 https://www.uniprot.org/uniprot/Q9UBX5 https://hpo.jax.org/app/browse/search?q=FBLN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604580 http://www.informatics.jax.org/searchtool/Search.do?query=FBLN5&submit=Quick%0D%7978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBLN5 rs769246119 0 0 0 1 0 0 intronic intronic intronic FBLN5 FBLN5 ENSG00000140092 Na Na Na Na Na Na Het;-ACACACA 122;3|4 Ref Hom;-ACACACA 188;0|5 N N - 14 92347490 92347490 C T snp intronic FBLN5 Fbln5 ENSG00000140092 fibulin 5 chr14:92335756-92414331 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Alcoholism; Height; Macular Degeneration|Vision, Low; atherosclerosis; Triglycerides; macular degeneration; Aortic Aneurysm, Abdominal; height; Lipids; Asthma; Body Height Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. Molecules associated with elastic fibres GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0034394;protein localization to cell surface;ISS|GO:0046903;secretion;IDA|GO:0048251;elastic fiber assembly;IMP|GO:2000121;regulation of removal of superoxide radicals;ISS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071953;elastic fiber;ISS GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBLN5 https://www.uniprot.org/uniprot/Q9UBX5 https://hpo.jax.org/app/browse/search?q=FBLN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604580 http://www.informatics.jax.org/searchtool/Search.do?query=FBLN5&submit=Quick%0D%7978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBLN5 rs2498843 0.0926518 0 0 1 0 0 intronic intronic intronic FBLN5 FBLN5 ENSG00000140092 Na Na Na Na Na Na Het;C>T 131;3|4 Ref Hom;C>T 197;0|5 N N - 14 92856473 92856474 CG C indel intronic SLC24A4 Slc24a4 ENSG00000140090 solute carrier family 24 member 4 chr14:92788925-92962596 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] Black vs blond hair color; Skin Neoplasms; Diabetes Mellitus, Type 2; Hypertension; Blue vs green eyes; melanoma; Tobacco Use Disorder; Blond vs brown hair color; Audiometry, Pure-Tone Mice homozygous for a knock-out allele exhibit impaired olfactory response and reduced weight. Sodium/Calcium exchangers GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0007608;sensory perception of smell;IBA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0097186;amelogenesis;ISS GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IBA|GO:0008273;calcium, potassium:sodium antiporter activity;TAS|GO:0015293;symporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0030955;potassium ion binding;IBA|GO:0031402;sodium ion binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC24A4 https://www.uniprot.org/uniprot/Q8NFF2 https://hpo.jax.org/app/browse/search?q=SLC24A4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609840 http://www.informatics.jax.org/searchtool/Search.do?query=SLC24A4&submit=Quick%0D%7977ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC24A4 rs34129936 0.373003 0 0 1 0 0 intronic intronic intronic SLC24A4 SLC24A4 ENSG00000140090 Na Na Na Na Na Na Het;-G 171;7|7 Het;-G 219;2|8 Hom;-G 213;0|7 N N - 14 93512947 93512947 G C snp intronic ITPK1 Itpk1 ENSG00000274958 inositol-tetrakisphosphate 1-kinase chr14:93403259-93582665 This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cholesterol, HDL; Tobacco Use Disorder; Body Height; hypertension; Body Weights and Measures; Lipids; Glucose; Kidney Diseases; Platelet Count; Triglycerides; Sleep Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation. Factors involved in megakaryocyte development and platelet production GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0016310;phosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0032957;inositol trisphosphate metabolic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003824;catalytic activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047325;inositol tetrakisphosphate 1-kinase activity;EXP|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS|GO:0052725;inositol-1,3,4-trisphosphate 6-kinase activity;EXP|GO:0052726;inositol-1,3,4-trisphosphate 5-kinase activity;EXP|GO:0052825;inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity;TAS|GO:0052830;inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity;TAS|GO:0052831;inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity;TAS|GO:0052835;inositol-3,4,6-trisphosphate 1-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ITPK1 https://www.uniprot.org/uniprot/Q13572 https://www.ncbi.nlm.nih.gov/omim/?term=601838 http://www.informatics.jax.org/searchtool/Search.do?query=ITPK1&submit=Quick%0D%21243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPK1 rs1740594 0.364617 0 0 1 0 0 intronic intronic intronic ITPK1 ITPK1 ENSG00000100605 Na Na Na Na Na Na Het;G>C 42;3|3 Het;G>C 41;1|4 Hom;G>C 114;0|5 N N - 14 94255435 94255435 T TGCGCTCCCGCCC indel upstream PRIMA1 Prima1 ENSG00000274089 proline rich membrane anchor 1 chr14:94184644-94254827 The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008] Pulse; Cardiomegaly Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors. GO:0042135;neurotransmitter catabolic process;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRIMA1 https://www.ncbi.nlm.nih.gov/omim/?term=613851 http://www.informatics.jax.org/searchtool/Search.do?query=PRIMA1&submit=Quick%0D%21041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIMA1 rs11375371 0.791733 0 0 1 0 0 upstream upstream upstream PRIMA1 PRIMA1 ENSG00000175785 Na Na Na Na Na Na Het;+GCGCTCCCGCCC 251;2|7 Ref Hom;+GCGCTCCCGCCC 278;0|7 N N - 14 94464432 94464432 A G snp ncRNA_exonic LINC00521 ENSG00000175699 coiled-coil domain containing 197 chr14:94463616-94478040 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LINC00521 http://www.informatics.jax.org/searchtool/Search.do?query=LINC00521&submit=Quick%0D%13741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00521 rs733166 0.753195 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic LINC00521 LINC00521(uc001ycg.1:c.-3069A>G) ENSG00000175699 Na Na Na Na Na Na Het;A>G 1049;54|48 Het;A>G 579;40|30 Hom;A>G 1970;0|74 N N - 14 94466081 94466081 C G snp ncRNA_intronic LINC00521 ENSG00000175699 coiled-coil domain containing 197 chr14:94463616-94478040 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LINC00521 http://www.informatics.jax.org/searchtool/Search.do?query=LINC00521&submit=Quick%0D%13741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00521 rs4905137 0.680711 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LINC00521 LINC00521 ENSG00000175699 Na Na Na Na Na Na Het;C>G 214;7|9 Het;C>G 141;7|6 Hom;C>G 523;0|17 N N - 14 94468291 94468291 G T snp ncRNA_intronic LINC00521 ENSG00000175699 coiled-coil domain containing 197 chr14:94463616-94478040 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LINC00521 http://www.informatics.jax.org/searchtool/Search.do?query=LINC00521&submit=Quick%0D%13741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00521 rs10132476 0.516174 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LINC00521 LINC00521 ENSG00000175699 Na Na Na Na Na Na Het;G>T 262;12|10 Het;G>T 80;9|4 Hom;G>T 369;0|12 N N - 14 94844562 94844562 C T snp UTR3 *224G>A SERPINA1 Serpina1e ENSG00000277377 serpin family A member 1 chr14:94843084-94857030 The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] atherosclerosis; chronic obstructive airways disease.; asthma; alpha(1) antitrypsin deficiency; Hepatitis C, Chronic|Liver Cirrhosis; alphal-antitrypsin deficiency; heart disease, ischemic; cerebrovascular disease, ischemic; fibromuscular dysplasia (FMD); bronchiectasis; common variable immunodeficiency; cirrhosis, alcoholic; Cough|Dyspnea|Pulmonary Disease, Chronic Obstructive; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z; blood pressure; normal variation; Pulmonary Emphysema; COPD; null; pancreatitis, acute pancreatitis, chronic; Atopic asthma. BHR. total IgE. SPT; Asthma|Pulmonary Disease, Chronic Obstructive; Myocardial Infarction; liver disease; Blood Pressure; cystic fibrosis; rheumatoid arthritis; obstructive Pulmonary Disease and Disseminated Bronchiectasis; lung cancer ; Pancreatitis, Alcoholic|Pancreatitis, Chronic; cervical artery dissection, spontaneous; alpha 1-Antitrypsin Deficiency|Lung Diseases, Obstructive; Genetic Diseases, Inborn; PAI-1 levels; Chronic Obstructive Pulmonary Disease; Asthma; alpha 1-Antitrypsin Deficiency|Emphysema; alpha 1-Antitrypsin Deficiency|Liver Diseases; Lung Diseases; lung cancer; Type 2 Diabetes| edema | rosiglitazone; pregnancy loss; Bronchiectasis|Bronchitis|Bronchitis unspecified|Emphysema|Lung Diseases, Obstructive; cystic fibrosis lung disease; sarcoidosis tuberculosis; cardiovascular disease; periodontal disease; chronic obstructive pulmonary disease; alpha 1-Antitrypsin Deficiency; alpha 1-Antitrypsin Deficiency|Aortic Stenosis, Supravalvular|Dislocations|Scoliosis|Williams Syndrome; chronic obstructive pulmonary disease/COPD; Tobacco Use Disorder; alpha 1-Antitrypsin Deficiency|Occupational Diseases|Smoke Inhalation Injury; lung function; Bronchiectasis|Immunologic Deficiency Syndromes; cardiovascular disease; Asbestosis; Nasal Polyps|Rhinitis|Sinusitis; Peyronie's disease; Cystic Fibrosis|Liver Diseases; psoriasis; stroke, ischemic; Airway Obstruction|alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; Serum alpha 1-antitrypsin deficiency; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Pulmonary Disease, Chronic Obstructive; periodontitis; colorectal cancer; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; Coronary Artery Disease|Glomerulonephritis, Membranous|Peripheral Vascular Diseases; Liver Diseases; hemochromatosis; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin deficiency; myocardial infarct; atherosclerosis, coronary; tuberculosis; HIV; Fatty Liver|Iron Overload|Liver Cirrhosis GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINA1 https://hpo.jax.org/app/browse/search?q=SERPINA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107400 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA1&submit=Quick%0D%21819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA1 rs2073333 0.278754 0 0 1 0 0 UTR3 UTR3 UTR3 SERPINA1(NM_001127704:c.*224G>A,NM_001127703:c.*224G>A,NM_001127702:c.*224G>A,NM_001127705:c.*224G>A,NM_001127707:c.*224G>A,NM_001127706:c.*224G>A,NM_000295:c.*224G>A,NM_001127700:c.*224G>A,NM_001127701:c.*224G>A,NM_001002236:c.*224G>A,NM_001002235:c.*224G>A) SERPINA1(uc001ycx.4:c.*224G>A,uc010auw.3:c.*224G>A,uc010aux.3:c.*224G>A,uc001ycy.4:c.*224G>A,uc010auy.3:c.*224G>A,uc001ycz.4:c.*224G>A,uc010auz.3:c.*224G>A,uc010ava.3:c.*224G>A,uc001ydb.4:c.*224G>A,uc010avb.3:c.*224G>A,uc001ydc.4:c.*224G>A) ENSG00000197249(ENST00000355814:c.*224G>A,ENST00000437397:c.*224G>A,ENST00000448921:c.*224G>A,ENST00000440909:c.*224G>A) Na Na Na Na Na Na Het;C>T 429;38|21 Het;C>T 530;33|26 Hom;C>T 1430;0|50 N N - 14 94844843 94844843 T G snp nonsynonymous SNV A1200C E400D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SERPINA1 Serpina1e ENSG00000277377 serpin family A member 1 chr14:94843084-94857030 The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] atherosclerosis; chronic obstructive airways disease.; asthma; alpha(1) antitrypsin deficiency; Hepatitis C, Chronic|Liver Cirrhosis; alphal-antitrypsin deficiency; heart disease, ischemic; cerebrovascular disease, ischemic; fibromuscular dysplasia (FMD); bronchiectasis; common variable immunodeficiency; cirrhosis, alcoholic; Cough|Dyspnea|Pulmonary Disease, Chronic Obstructive; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z; blood pressure; normal variation; Pulmonary Emphysema; COPD; null; pancreatitis, acute pancreatitis, chronic; Atopic asthma. BHR. total IgE. SPT; Asthma|Pulmonary Disease, Chronic Obstructive; Myocardial Infarction; liver disease; Blood Pressure; cystic fibrosis; rheumatoid arthritis; obstructive Pulmonary Disease and Disseminated Bronchiectasis; lung cancer ; Pancreatitis, Alcoholic|Pancreatitis, Chronic; cervical artery dissection, spontaneous; alpha 1-Antitrypsin Deficiency|Lung Diseases, Obstructive; Genetic Diseases, Inborn; PAI-1 levels; Chronic Obstructive Pulmonary Disease; Asthma; alpha 1-Antitrypsin Deficiency|Emphysema; alpha 1-Antitrypsin Deficiency|Liver Diseases; Lung Diseases; lung cancer; Type 2 Diabetes| edema | rosiglitazone; pregnancy loss; Bronchiectasis|Bronchitis|Bronchitis unspecified|Emphysema|Lung Diseases, Obstructive; cystic fibrosis lung disease; sarcoidosis tuberculosis; cardiovascular disease; periodontal disease; chronic obstructive pulmonary disease; alpha 1-Antitrypsin Deficiency; alpha 1-Antitrypsin Deficiency|Aortic Stenosis, Supravalvular|Dislocations|Scoliosis|Williams Syndrome; chronic obstructive pulmonary disease/COPD; Tobacco Use Disorder; alpha 1-Antitrypsin Deficiency|Occupational Diseases|Smoke Inhalation Injury; lung function; Bronchiectasis|Immunologic Deficiency Syndromes; cardiovascular disease; Asbestosis; Nasal Polyps|Rhinitis|Sinusitis; Peyronie's disease; Cystic Fibrosis|Liver Diseases; psoriasis; stroke, ischemic; Airway Obstruction|alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive; Serum alpha 1-antitrypsin deficiency; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Pulmonary Disease, Chronic Obstructive; periodontitis; colorectal cancer; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; Coronary Artery Disease|Glomerulonephritis, Membranous|Peripheral Vascular Diseases; Liver Diseases; hemochromatosis; alpha 1-Antitrypsin Deficiency|Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; alpha 1-antitrypsin deficiency; myocardial infarct; atherosclerosis, coronary; tuberculosis; HIV; Fatty Liver|Iron Overload|Liver Cirrhosis GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINA1 https://hpo.jax.org/app/browse/search?q=SERPINA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107400 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA1&submit=Quick%0D%21819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA1 rs1303 0.280351 0.2071 0.2747 0.15 2 13 exonic exonic exonic SERPINA1 SERPINA1 ENSG00000197249 nonsynonymous SNV nonsynonymous SNV unknown SERPINA1:NM_001127700:exon5:c.A1200C:p.E400D,SERPINA1:NM_000295:exon5:c.A1200C:p.E400D,SERPINA1:NM_001002236:exon7:c.A1200C:p.E400D,SERPINA1:NM_001127707:exon6:c.A1200C:p.E400D,SERPINA1:NM_001127705:exon7:c.A1200C:p.E400D,SERPINA1:NM_001127704:exon7:c.A1200C:p.E400D,SERPINA1:NM_001002235:exon5:c.A1200C:p.E400D,SERPINA1:NM_001127706:exon6:c.A1200C:p.E400D,SERPINA1:NM_001127701:exon7:c.A1200C:p.E400D,SERPINA1:NM_001127702:exon6:c.A1200C:p.E400D,SERPINA1:NM_001127703:exon7:c.A1200C:p.E400D, SERPINA1:uc010ava.3:exon7:c.A1200C:p.E400D,SERPINA1:uc010aux.3:exon5:c.A1200C:p.E400D,SERPINA1:uc001ycy.4:exon7:c.A1200C:p.E400D,SERPINA1:uc001ycx.4:exon5:c.A1200C:p.E400D,SERPINA1:uc010auy.3:exon7:c.A1200C:p.E400D,SERPINA1:uc010auz.3:exon6:c.A1200C:p.E400D,SERPINA1:uc001ydc.4:exon6:c.A1200C:p.E400D,SERPINA1:uc001ydb.4:exon7:c.A1200C:p.E400D,SERPINA1:uc010avb.3:exon6:c.A1200C:p.E400D,SERPINA1:uc010auw.3:exon7:c.A1200C:p.E400D,SERPINA1:uc001ycz.4:exon5:c.A1200C:p.E400D, UNKNOWN Het;T>G 2162;74|97 Het;T>G 1804;73|81 Hom;T>G 3449;0|120 N N - 14 95555386 95555386 C CA indel UTR3 *1449G>TG DICER1 Dicer1 ENSG00000100697 dicer 1, ribonuclease III chr14:95552565-95624347 This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; lung cancer; oral premalignant lesions; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Carcinoma, Renal Cell|Kidney Neoplasms; esophageal cancer ; Alcoholism Mutation of this locus results in arrest of early embryonic development. Small interfering RNA (siRNA) biogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006396;RNA processing;IEA|GO:0010586;miRNA metabolic process;TAS|GO:0010626;negative regulation of Schwann cell proliferation;ISS|GO:0014040;positive regulation of Schwann cell differentiation;ISS|GO:0021675;nerve development;ISS|GO:0030422;production of siRNA involved in RNA interference;TAS|GO:0030423;targeting of mRNA for destruction involved in RNA interference;IMP|GO:0031047;gene silencing by RNA;IEA|GO:0031054;pre-miRNA processing;IDA|GO:0031643;positive regulation of myelination;ISS|GO:0032290;peripheral nervous system myelin formation;ISS|GO:0033168;conversion of ds siRNA to ss siRNA involved in RNA interference;IMP|GO:0035087;siRNA loading onto RISC involved in RNA interference;IDA|GO:0035196;production of miRNAs involved in gene silencing by miRNA;IDA|GO:0035280;miRNA loading onto RISC involved in gene silencing by miRNA;IDA|GO:0036404;conversion of ds siRNA to ss siRNA;IMP|GO:0048812;neuron projection morphogenesis;ISS|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005829;cytosol;TAS|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0033167;ARC complex;IC|GO:0070578;RISC-loading complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IMP|GO:0004386;helicase activity;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0004525;ribonuclease III activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016891;endoribonuclease activity, producing 5'-phosphomonoesters;IEA|GO:0019904;protein domain specific binding;IPI|GO:0035197;siRNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070883;pre-miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DICER1 https://www.uniprot.org/uniprot/Q9UPY3 https://hpo.jax.org/app/browse/search?q=DICER1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606241 http://www.informatics.jax.org/searchtool/Search.do?query=DICER1&submit=Quick%0D%2584ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DICER1 rs35463377 0.421126 0 0 1 0 0 UTR3 UTR3 UTR3 DICER1(NM_030621:c.*1449G>TG,NM_001195573:c.*1565G>TG,NM_001291628:c.*1449G>TG,NM_177438:c.*1449G>TG,NM_001271282:c.*1449G>TG) DICER1(uc010avh.1:c.*1449G>TG,uc021sbc.1:c.*1565G>TG,uc001ydv.3:c.*1449G>TG,uc001ydw.2:c.*1449G>TG,uc001ydx.2:c.*1449G>TG) ENSG00000100697(ENST00000526495:c.*1449G>TG,ENST00000343455:c.*1449G>TG,ENST00000393063:c.*1449G>TG) Na Na Na Na Na Na Het;+A 259;6|14 Ref Hom;+A 264;2|15 N N - 14 95556747 95556747 A T snp UTR3 *88T>A DICER1 Dicer1 ENSG00000100697 dicer 1, ribonuclease III chr14:95552565-95624347 This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; lung cancer; oral premalignant lesions; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Carcinoma, Renal Cell|Kidney Neoplasms; esophageal cancer ; Alcoholism Mutation of this locus results in arrest of early embryonic development. Small interfering RNA (siRNA) biogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006396;RNA processing;IEA|GO:0010586;miRNA metabolic process;TAS|GO:0010626;negative regulation of Schwann cell proliferation;ISS|GO:0014040;positive regulation of Schwann cell differentiation;ISS|GO:0021675;nerve development;ISS|GO:0030422;production of siRNA involved in RNA interference;TAS|GO:0030423;targeting of mRNA for destruction involved in RNA interference;IMP|GO:0031047;gene silencing by RNA;IEA|GO:0031054;pre-miRNA processing;IDA|GO:0031643;positive regulation of myelination;ISS|GO:0032290;peripheral nervous system myelin formation;ISS|GO:0033168;conversion of ds siRNA to ss siRNA involved in RNA interference;IMP|GO:0035087;siRNA loading onto RISC involved in RNA interference;IDA|GO:0035196;production of miRNAs involved in gene silencing by miRNA;IDA|GO:0035280;miRNA loading onto RISC involved in gene silencing by miRNA;IDA|GO:0036404;conversion of ds siRNA to ss siRNA;IMP|GO:0048812;neuron projection morphogenesis;ISS|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005829;cytosol;TAS|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0033167;ARC complex;IC|GO:0070578;RISC-loading complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IMP|GO:0004386;helicase activity;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0004525;ribonuclease III activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016891;endoribonuclease activity, producing 5'-phosphomonoesters;IEA|GO:0019904;protein domain specific binding;IPI|GO:0035197;siRNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070883;pre-miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DICER1 https://www.uniprot.org/uniprot/Q9UPY3 https://hpo.jax.org/app/browse/search?q=DICER1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606241 http://www.informatics.jax.org/searchtool/Search.do?query=DICER1&submit=Quick%0D%2584ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DICER1 rs13078 0.908946 0 0 1 0 0 UTR3 UTR3 UTR3 DICER1(NM_030621:c.*88T>A,NM_001195573:c.*204T>A,NM_001291628:c.*88T>A,NM_177438:c.*88T>A,NM_001271282:c.*88T>A) DICER1(uc010avh.1:c.*88T>A,uc021sbc.1:c.*204T>A,uc001ydv.3:c.*88T>A,uc001ydw.2:c.*88T>A,uc001ydx.2:c.*88T>A) ENSG00000100697(ENST00000526495:c.*88T>A,ENST00000343455:c.*88T>A,ENST00000393063:c.*88T>A,ENST00000527414:c.*88T>A) Na Na Na Na Na Na Het;A>T 1102;56|47 Het;A>T 1070;62|55 Hom;A>T 3420;0|124 N N - 14 95801931 95801931 C G snp downstream LINC02292 rs11848284 0.444688 0 0 1 0 0 downstream intergenic downstream LOC101929080 CLMN(dist=15686),LINC00341(dist=71673) ENSG00000258630 Na Na Na Na Na Na Het;C>G 130;10|6 Het;C>G 316;2|9 Hom;C>G 117;0|5 N N - 14 95884323 95884323 G A snp nonsynonymous SNV C2753T A918V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SYNE3 Syne3 ENSG00000176438 spectrin repeat containing nuclear envelope family member 3 chr14:95883831-95942173 Lipoproteins GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005640;nuclear outer membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/SYNE3 https://www.ncbi.nlm.nih.gov/omim/?term=610861 http://www.informatics.jax.org/searchtool/Search.do?query=SYNE3&submit=Quick%0D%13860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNE3 rs12434757 0.55012 0.6243 0.6173 0.08 1 13 exonic exonic exonic SYNE3 SYNE3 ENSG00000176438 nonsynonymous SNV nonsynonymous SNV unknown SYNE3:NM_152592:exon17:c.C2768T:p.A923V, SYNE3:uc010avi.3:exon17:c.C2753T:p.A918V,SYNE3:uc001yei.4:exon17:c.C2768T:p.A923V, UNKNOWN Het;G>A 635;19|29 Het;G>A 628;36|28 Hom;G>A 1162;0|44 N N - 14 96060358 96060358 C G snp intergenic GLRX5 Glrx5 ENSG00000182512 glutaredoxin 5 chr14:95999840-96011061 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Echocardiography; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; Tuberculosis; Tobacco Use Disorder Mitochondrial iron-sulfur cluster biogenesis GO:0009249;protein lipoylation;IMP|GO:0030097;hemopoiesis;ISS|GO:0044281;small molecule metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX5 https://hpo.jax.org/app/browse/search?q=GLRX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609588 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX5&submit=Quick%0D%14802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX5 rs10134939 0.338458 0 0 1 0 0 intergenic intergenic intergenic GLRX5(dist=49303),TCL6(dist=57157) BC038791(dist=15340),TCL6(dist=56477) ENSG00000258390(dist=12065),ENSG00000258927(dist=26893) Na Na Na Na Na Na Het;C>G 54;13|3 Het;C>G 44;4|3 Hom;C>G 218;0|6 N N - 14 96060392 96060392 C CCCACATGTGCACA indel intergenic GLRX5 Glrx5 ENSG00000182512 glutaredoxin 5 chr14:95999840-96011061 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Echocardiography; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; Tuberculosis; Tobacco Use Disorder Mitochondrial iron-sulfur cluster biogenesis GO:0009249;protein lipoylation;IMP|GO:0030097;hemopoiesis;ISS|GO:0044281;small molecule metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX5 https://hpo.jax.org/app/browse/search?q=GLRX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609588 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX5&submit=Quick%0D%14802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX5 rs147631203 0.333267 0 0 1 0 0 intergenic intergenic intergenic GLRX5(dist=49337),TCL6(dist=57123) BC038791(dist=15374),TCL6(dist=56443) ENSG00000258390(dist=12099),ENSG00000258927(dist=26859) Na Na Na Na Na Na Het;+CCACATGTGCACA 578;19|14 Het;+CCACATGTGCACA 389;11|7 Hom;+CCACATGTGCACA 818;0|14 N N - 14 96060417 96060417 G A snp intergenic GLRX5 Glrx5 ENSG00000182512 glutaredoxin 5 chr14:95999840-96011061 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Echocardiography; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; Tuberculosis; Tobacco Use Disorder Mitochondrial iron-sulfur cluster biogenesis GO:0009249;protein lipoylation;IMP|GO:0030097;hemopoiesis;ISS|GO:0044281;small molecule metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX5 https://hpo.jax.org/app/browse/search?q=GLRX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609588 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX5&submit=Quick%0D%14802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX5 rs10135179 0.337859 0 0 1 0 0 intergenic intergenic intergenic GLRX5(dist=49362),TCL6(dist=57098) BC038791(dist=15399),TCL6(dist=56418) ENSG00000258390(dist=12124),ENSG00000258927(dist=26834) Na Na Na Na Na Na Het;G>A 1105;25|28 Het;G>A 1175;19|28 Hom;G>A 1716;0|34 N N - 14 96060422 96060422 T C snp intergenic GLRX5 Glrx5 ENSG00000182512 glutaredoxin 5 chr14:95999840-96011061 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Echocardiography; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; Tuberculosis; Tobacco Use Disorder Mitochondrial iron-sulfur cluster biogenesis GO:0009249;protein lipoylation;IMP|GO:0030097;hemopoiesis;ISS|GO:0044281;small molecule metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX5 https://hpo.jax.org/app/browse/search?q=GLRX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609588 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX5&submit=Quick%0D%14802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX5 rs10147207 0.338059 0 0 1 0 0 intergenic intergenic intergenic GLRX5(dist=49367),TCL6(dist=57093) BC038791(dist=15404),TCL6(dist=56413) ENSG00000258390(dist=12129),ENSG00000258927(dist=26829) Na Na Na Na Na Na Het;T>C 1136;31|29 Het;T>C 1336;19|34 Hom;T>C 1785;0|39 N N - 14 96060446 96060446 C T snp intergenic GLRX5 Glrx5 ENSG00000182512 glutaredoxin 5 chr14:95999840-96011061 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Echocardiography; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; Tuberculosis; Tobacco Use Disorder Mitochondrial iron-sulfur cluster biogenesis GO:0009249;protein lipoylation;IMP|GO:0030097;hemopoiesis;ISS|GO:0044281;small molecule metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX5 https://hpo.jax.org/app/browse/search?q=GLRX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609588 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX5&submit=Quick%0D%14802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX5 rs7493582 0.338059 0 0 1 0 0 intergenic intergenic intergenic GLRX5(dist=49391),TCL6(dist=57069) BC038791(dist=15428),TCL6(dist=56389) ENSG00000258390(dist=12153),ENSG00000258927(dist=26805) Na Na Na Na Na Na Het;C>T 1439;46|45 Het;C>T 1443;44|41 Hom;C>T 2911;0|87 N N - 14 96060549 96060549 C T snp intergenic GLRX5 Glrx5 ENSG00000182512 glutaredoxin 5 chr14:95999840-96011061 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] Echocardiography; Blood Pressure; Acquired Immunodeficiency Syndrome|Disease Progression; Tuberculosis; Tobacco Use Disorder Mitochondrial iron-sulfur cluster biogenesis GO:0009249;protein lipoylation;IMP|GO:0030097;hemopoiesis;ISS|GO:0044281;small molecule metabolic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX5 https://hpo.jax.org/app/browse/search?q=GLRX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609588 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX5&submit=Quick%0D%14802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX5 rs1951461 0.338259 0 0 1 0 0 intergenic intergenic intergenic GLRX5(dist=49494),TCL6(dist=56966) BC038791(dist=15531),TCL6(dist=56286) ENSG00000258390(dist=12256),ENSG00000258927(dist=26702) Na Na Na Na Na Na Het;C>T 1106;44|52 Het;C>T 797;68|40 Hom;C>T 4262;0|92 N N - 14 96771959 96771959 A G snp nonsynonymous SNV T4700C I1567T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ATG2B Atg2b ENSG00000066739 autophagy related 2B chr14:96747595-96830207 This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016] colorectal cancer GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA GO:0000407;pre-autophagosomal structure;IBA|GO:0005811;lipid particle;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG2B https://www.uniprot.org/uniprot/Q96BY7 https://www.ncbi.nlm.nih.gov/omim/?term=616226 http://www.informatics.jax.org/searchtool/Search.do?query=ATG2B&submit=Quick%0D%1231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2B rs2289622 0.89357 0.9788 0.9445 0.15 2 13 exonic exonic exonic ATG2B ATG2B ENSG00000066739 nonsynonymous SNV nonsynonymous SNV unknown ATG2B:NM_018036:exon31:c.T4700C:p.I1567T, ATG2B:uc001yfi.3:exon31:c.T4700C:p.I1567T, UNKNOWN Het;A>G 772;57|34 Het;A>G 911;37|37 Hom;A>G 3105;0|109 N N - 14 96781912 96781912 T C snp nonsynonymous SNV A3370G N1124D polar,hydrophilic,neutral polar,hydrophilic,charged(-) ATG2B Atg2b ENSG00000066739 autophagy related 2B chr14:96747595-96830207 This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016] colorectal cancer GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA GO:0000407;pre-autophagosomal structure;IBA|GO:0005811;lipid particle;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG2B https://www.uniprot.org/uniprot/Q96BY7 https://www.ncbi.nlm.nih.gov/omim/?term=616226 http://www.informatics.jax.org/searchtool/Search.do?query=ATG2B&submit=Quick%0D%1231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2B rs9323945 0.90655 0.9929 0.9485 0.23 3 13 exonic exonic exonic ATG2B ATG2B ENSG00000066739 nonsynonymous SNV nonsynonymous SNV unknown ATG2B:NM_018036:exon22:c.A3370G:p.N1124D, ATG2B:uc001yfi.3:exon22:c.A3370G:p.N1124D, UNKNOWN Het;T>C 1330;55|57 Het;T>C 1108;42|45 Hom;T>C 4195;0|156 N N - 14 96797724 96797724 G A snp synonymous SNV C1719T H573H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ATG2B Atg2b ENSG00000066739 autophagy related 2B chr14:96747595-96830207 This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016] colorectal cancer GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA GO:0000407;pre-autophagosomal structure;IBA|GO:0005811;lipid particle;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG2B https://www.uniprot.org/uniprot/Q96BY7 https://www.ncbi.nlm.nih.gov/omim/?term=616226 http://www.informatics.jax.org/searchtool/Search.do?query=ATG2B&submit=Quick%0D%1231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2B rs1822372 0.84405 0.9790 0.9206 1 0 0 exonic exonic exonic ATG2B ATG2B ENSG00000066739 synonymous SNV synonymous SNV unknown ATG2B:NM_018036:exon11:c.C1719T:p.H573H, ATG2B:uc001yfi.3:exon11:c.C1719T:p.H573H, UNKNOWN Het;G>A 507;31|23 Het;G>A 874;27|37 Hom;G>A 2135;0|77 N N - 14 96813703 96813703 A T snp intronic ATG2B Atg2b ENSG00000066739 autophagy related 2B chr14:96747595-96830207 This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016] colorectal cancer GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006914;autophagy;IEA|GO:0044804;nucleophagy;IBA GO:0000407;pre-autophagosomal structure;IBA|GO:0005811;lipid particle;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA|GO:0034045;pre-autophagosomal structure membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG2B https://www.uniprot.org/uniprot/Q96BY7 https://www.ncbi.nlm.nih.gov/omim/?term=616226 http://www.informatics.jax.org/searchtool/Search.do?query=ATG2B&submit=Quick%0D%1231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG2B rs4905483 0.844449 0.9799 0.9217 1 0 0 intronic intronic intronic ATG2B ATG2B ENSG00000066739 Na Na Na Na Na Na Het;A>T 442;24|20 Het;A>T 657;27|26 Hom;A>T 1757;0|56 N N - 14 97081323 97081323 G T snp intergenic PAPOLA Papola ENSG00000090060 poly(A) polymerase alpha chr14:96967770-97033448 The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Suntan Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IDA|GO:0006397;mRNA processing;IEA|GO:0031123;RNA 3'-end processing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0031440;regulation of mRNA 3'-end processing;IDA|GO:0043631;RNA polyadenylation;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0003723;RNA binding;IEA|GO:0004652;polynucleotide adenylyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAPOLA https://www.uniprot.org/uniprot/P51003 https://www.ncbi.nlm.nih.gov/omim/?term=605553 http://www.informatics.jax.org/searchtool/Search.do?query=PAPOLA&submit=Quick%0D%2086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPOLA rs10140933 0.272764 0 0 1 0 0 intergenic intergenic intergenic PAPOLA(dist=47870),VRK1(dist=182361) BC035096(dist=19244),VRK1(dist=182361) ENSG00000258702(dist=19224),ENSG00000223299(dist=23201) Na Na Na Na Na Na Het;G>T 187;12|10 Ref Hom;G>T 660;0|25 N N - 14 97976764 97976764 C A snp ncRNA_intronic LOC101929241 rs2170819 0.589657 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929241 BC038465(dist=46268),LOC100129345(dist=122220) ENSG00000246084 Na Na Na Na Na Na Het;C>A 478;16|20 Het;C>A 895;22|35 Hom;C>A 1231;0|41 N N - 14 97976854 97976854 G A snp ncRNA_intronic LOC101929241 rs1545884 0.635982 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929241 BC038465(dist=46358),LOC100129345(dist=122130) ENSG00000246084 Na Na Na Na Na Na Het;G>A 109;5|4 Het;G>A 152;3|5 Hom;G>A 97;0|3 N N - 14 98380958 98380958 A G snp intergenic LOC100129345 rs2604972 0.600439 0 0 1 0 0 intergenic intergenic intergenic LOC100129345(dist=227963),LINC01550(dist=10989) LOC100129345(dist=227963),C14orf64(dist=10989) ENSG00000258379(dist=125365),ENSG00000246223(dist=10989) Na Na Na Na Na Na Het;A>G 90;3|5 Ref Hom;A>G 71;0|4 N N - 14 98391950 98391950 C A snp ncRNA_exonic LINC01550 rs2604978 0.501797 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01550 C14orf64 ENSG00000246223(ENST00000499006:c.*1041G>T) Na Na Na Na Na Na Het;C>A 1133;99|62 Het;C>A 1750;78|83 Hom;C>A 3732;0|135 N N - 14 98392157 98392157 G A snp ncRNA_exonic LINC01550 rs2776596 0.501997 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01550 C14orf64 ENSG00000246223(ENST00000499006:c.*834C>T) Na Na Na Na Na Na Het;G>A 501;25|18 Het;G>A 340;9|11 Hom;G>A 706;0|21 N N - 14 98694385 98694385 C T snp intergenic LINC01550 rs1954557 0.410942 0 0 1 0 0 intergenic intergenic intergenic LINC01550(dist=249924),C14orf177(dist=483565) JX073282(dist=88170),C14orf177(dist=483565) ENSG00000259097(dist=22905),ENSG00000222066(dist=103584) Na Na Na Na Na Na Het;C>T 665;90|40 Ref Hom;C>T 3804;0|142 N N - 15 100243487 100243488 GT G indel intronic MEF2A Mef2a ENSG00000068305 myocyte enhancer factor 2A chr15:100017370-100256671 The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] Type 2 Diabetes| edema | rosiglitazone; Insulin Resistance|Polycystic Ovary Syndrome; Tobacco Use Disorder; hypertension; Myocardial Infarction; coronary artery disease; atherosclerosis, coronary; Cardiomyopathy, Hypertrophic|Hypertrophy, Left Ventricular; myocardial infarct; Coronary Artery Disease; myocardial infarction; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; blood pressure, arterial; Arteries; Bone Mineral Density; myocardial infarct; atherosclerosis, coronary; heart disease, ischemic Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. CDO in myogenesis GO:0000002;mitochondrial genome maintenance;ISS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000165;MAPK cascade;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEP|GO:0007517;muscle organ development;NAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IDA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048311;mitochondrion distribution;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0055005;ventricular cardiac myofibril assembly;ISS|GO:0061337;cardiac conduction;ISS|GO:0070375;ERK5 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA GO:0000790;nuclear chromatin;ISS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005829;cytosol;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0033613;activating transcription factor binding;IPI|GO:0035035;histone acetyltransferase binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEF2A https://www.uniprot.org/uniprot/Q02078 https://www.ncbi.nlm.nih.gov/omim/?term=600660 http://www.informatics.jax.org/searchtool/Search.do?query=MEF2A&submit=Quick%0D%1279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEF2A rs34131461 0.607827 0.6260 0 1 0 0 intronic intronic intronic MEF2A MEF2A ENSG00000068305 Na Na Na Na Na Na Het;-T 534;17|24 Ref Hom;-T 1113;0|40 N N - 15 100246834 100246834 T G snp intronic MEF2A Mef2a ENSG00000068305 myocyte enhancer factor 2A chr15:100017370-100256671 The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] Type 2 Diabetes| edema | rosiglitazone; Insulin Resistance|Polycystic Ovary Syndrome; Tobacco Use Disorder; hypertension; Myocardial Infarction; coronary artery disease; atherosclerosis, coronary; Cardiomyopathy, Hypertrophic|Hypertrophy, Left Ventricular; myocardial infarct; Coronary Artery Disease; myocardial infarction; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; blood pressure, arterial; Arteries; Bone Mineral Density; myocardial infarct; atherosclerosis, coronary; heart disease, ischemic Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. CDO in myogenesis GO:0000002;mitochondrial genome maintenance;ISS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000165;MAPK cascade;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEP|GO:0007517;muscle organ development;NAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IDA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048311;mitochondrion distribution;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0055005;ventricular cardiac myofibril assembly;ISS|GO:0061337;cardiac conduction;ISS|GO:0070375;ERK5 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA GO:0000790;nuclear chromatin;ISS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005829;cytosol;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0033613;activating transcription factor binding;IPI|GO:0035035;histone acetyltransferase binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEF2A https://www.uniprot.org/uniprot/Q02078 https://www.ncbi.nlm.nih.gov/omim/?term=600660 http://www.informatics.jax.org/searchtool/Search.do?query=MEF2A&submit=Quick%0D%1279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEF2A rs325409 0.61242 0 0 1 0 0 intronic intronic intronic MEF2A MEF2A ENSG00000068305 Na Na Na Na Na Na Het;T>G 176;11|6 Ref Hom;T>G 318;0|9 N N - 15 100246936 100246936 T C snp synonymous SNV T861C N287N polar,hydrophilic,neutral polar,hydrophilic,neutral MEF2A Mef2a ENSG00000068305 myocyte enhancer factor 2A chr15:100017370-100256671 The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] Type 2 Diabetes| edema | rosiglitazone; Insulin Resistance|Polycystic Ovary Syndrome; Tobacco Use Disorder; hypertension; Myocardial Infarction; coronary artery disease; atherosclerosis, coronary; Cardiomyopathy, Hypertrophic|Hypertrophy, Left Ventricular; myocardial infarct; Coronary Artery Disease; myocardial infarction; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; blood pressure, arterial; Arteries; Bone Mineral Density; myocardial infarct; atherosclerosis, coronary; heart disease, ischemic Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. CDO in myogenesis GO:0000002;mitochondrial genome maintenance;ISS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000165;MAPK cascade;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEP|GO:0007517;muscle organ development;NAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IDA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048311;mitochondrion distribution;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0055005;ventricular cardiac myofibril assembly;ISS|GO:0061337;cardiac conduction;ISS|GO:0070375;ERK5 cascade;IMP|GO:0071277;cellular response to calcium ion;IDA GO:0000790;nuclear chromatin;ISS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005829;cytosol;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0033613;activating transcription factor binding;IPI|GO:0035035;histone acetyltransferase binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046332;SMAD binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEF2A https://www.uniprot.org/uniprot/Q02078 https://www.ncbi.nlm.nih.gov/omim/?term=600660 http://www.informatics.jax.org/searchtool/Search.do?query=MEF2A&submit=Quick%0D%1279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEF2A rs325408 0.61242 0.6406 0.7471 1 0 0 exonic exonic exonic MEF2A MEF2A ENSG00000068305 synonymous SNV synonymous SNV unknown MEF2A:NM_001130926:exon8:c.T861C:p.N287N,MEF2A:NM_001130928:exon6:c.T657C:p.N219N,MEF2A:NM_001171894:exon10:c.T861C:p.N287N,MEF2A:NM_005587:exon9:c.T867C:p.N289N,MEF2A:NM_001130927:exon8:c.T681C:p.N227N, MEF2A:uc010bot.3:exon6:c.T657C:p.N219N,MEF2A:uc010urw.2:exon9:c.T891C:p.N297N,MEF2A:uc002bvi.3:exon8:c.T861C:p.N287N,MEF2A:uc010bos.3:exon8:c.T861C:p.N287N,MEF2A:uc010urv.2:exon8:c.T681C:p.N227N,MEF2A:uc002bvf.3:exon9:c.T867C:p.N289N,MEF2A:uc002bvg.3:exon10:c.T861C:p.N287N,MEF2A:uc002bve.3:exon10:c.T885C:p.N295N, UNKNOWN Het;T>C 946;79|44 Ref Hom;T>C 5134;0|115 N N - 15 100271253 100271253 C T snp intronic LYSMD4 Lysmd4 ENSG00000183060 LysM domain containing 4 chr15:100255902-100273766 Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYSMD4 http://www.informatics.jax.org/searchtool/Search.do?query=LYSMD4&submit=Quick%0D%14913ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYSMD4 rs12185079 0.237819 0 0 1 0 0 intronic intronic intronic LYSMD4 LYSMD4 ENSG00000183060 Na Na Na Na Na Na Het;C>T 149;5|6 Ref Hom;C>T 149;0|6 N N - 15 100272337 100272337 A G snp intronic LYSMD4 Lysmd4 ENSG00000183060 LysM domain containing 4 chr15:100255902-100273766 Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYSMD4 http://www.informatics.jax.org/searchtool/Search.do?query=LYSMD4&submit=Quick%0D%14913ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYSMD4 rs73466515 0.235823 0 0 1 0 0 intronic intronic intronic LYSMD4 LYSMD4 ENSG00000183060 Na Na Na Na Na Na Het;A>G 61;9|3 Ref Hom;A>G 122;0|4 N N - 15 100767001 100767001 G T snp intronic ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs4246309 0.545927 0 0 1 0 0 intronic intronic intronic ADAMTS17 ADAMTS17 ENSG00000140470 Na Na Na Na Na Na Het;G>T 862;35|40 Ref Hom;G>T 2027;0|78 N N - 15 100794363 100794363 C T snp synonymous SNV G1053A K351K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs4369638 0.821486 0.7453 0.7556 1 0 0 exonic exonic exonic ADAMTS17 ADAMTS17 ENSG00000140470 synonymous SNV synonymous SNV unknown ADAMTS17:NM_139057:exon7:c.G1053A:p.K351K, ADAMTS17:uc002bvv.1:exon7:c.G1053A:p.K351K,ADAMTS17:uc002bvx.1:exon6:c.G324A:p.K108K, UNKNOWN Het;C>T 877;33|43 Ref Hom;C>T 2006;0|73 N N - 15 100821426 100821426 G A snp intronic ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs7496614 0.346845 0.2978 0.3188 1 0 0 intronic intronic intronic ADAMTS17 ADAMTS17 ENSG00000140470 Na Na Na Na Na Na Het;G>A 533;36|25 Ref Hom;G>A 1719;2|66 N N - 15 100821467 100821467 G A snp synonymous SNV C756T A252A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs7496640 0.5 0.3850 0.4296 1 0 0 exonic exonic exonic ADAMTS17 ADAMTS17 ENSG00000140470 synonymous SNV synonymous SNV unknown ADAMTS17:NM_139057:exon4:c.C756T:p.A252A, ADAMTS17:uc002bvv.1:exon4:c.C756T:p.A252A,ADAMTS17:uc002bvx.1:exon3:c.C27T:p.A9A, UNKNOWN Het;G>A 851;53|44 Ref Hom;G>A 2163;2|85 N N - 15 100821576 100821576 G A snp nonsynonymous SNV C647T S216L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs7496668 0.484625 0.3626 0.4260 0.31 4 13 exonic exonic exonic ADAMTS17 ADAMTS17 ENSG00000140470 nonsynonymous SNV nonsynonymous SNV unknown ADAMTS17:NM_139057:exon4:c.C647T:p.S216L, ADAMTS17:uc002bvv.1:exon4:c.C647T:p.S216L, UNKNOWN Het;G>A 591;27|22 Ref Hom;G>A 1753;0|62 N N - 15 100821647 100821647 T C snp intronic ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs7497712 0.500799 0.3799 0.4546 1 0 0 intronic intronic intronic ADAMTS17 ADAMTS17 ENSG00000140470 Na Na Na Na Na Na Het;T>C 161;9|8 Ref Hom;T>C 638;0|22 N N - 15 100871329 100871329 G A snp intronic ADAMTS17 Adamts17 ENSG00000140470 ADAM metallopeptidase with thrombospondin type 1 motif 17 chr15:100511794-100882210 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Macular Degeneration; Height; height; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0003676;nucleic acid binding;IEA|GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS17 https://www.uniprot.org/uniprot/Q8TE56 https://hpo.jax.org/app/browse/search?q=ADAMTS17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607511 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS17&submit=Quick%0D%8030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS17 rs11639041 0.230032 0 0 1 0 0 intronic intronic intronic ADAMTS17 ADAMTS17 ENSG00000140470 Na Na Na Na Na Na Het;G>A 447;15|18 Ref Hom;G>A 1115;0|35 N N - 15 100996038 100996038 C T snp intronic CERS3 Cers3 ENSG00000154227 ceramide synthase 3 chr15:100940600-101085200 This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Triglycerides; Albumins Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification. Sphingolipid de novo biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030216;keratinocyte differentiation;IMP|GO:0046513;ceramide biosynthetic process;IMP GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0003677;DNA binding;IEA|GO:0016740;transferase activity;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CERS3 https://www.uniprot.org/uniprot/Q8IU89 https://hpo.jax.org/app/browse/search?q=CERS3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615276 http://www.informatics.jax.org/searchtool/Search.do?query=CERS3&submit=Quick%0D%9744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS3 rs12595207 0.662141 0 0 1 0 0 intronic intronic intronic CERS3 CERS3 ENSG00000154227 Na Na Na Na Na Na Het;C>T 405;13|14 Ref Hom;C>T 669;0|20 N N - 15 101093362 101093362 G GCA indel ncRNA_exonic PRKXP1 rs3842338 0 0 0 1 0 0 ncRNA_exonic UTR3 downstream PRKXP1 PRKXP1(uc031qul.1:c.*5599C>TGC) ENSG00000259205 Na Na Na Na Na Na Het;+CA 3452;20|119 Het;+CA 2546;21|86 Hom;+CA 3886;15|132 N N - 15 101186633 101186633 G T snp ncRNA_exonic AC090695.1 rs7168512 0.453874 0 0 1 0 0 intronic intronic ncRNA_exonic ASB7 ASB7 ENSG00000259381 Na Na Na Na Na Na Het;G>T 169;7|7 Ref Hom;G>T 159;0|7 N N - 15 101186834 101186834 G T snp ncRNA_exonic AC090695.1 rs6598370 0.14996 0 0 1 0 0 intronic intronic ncRNA_exonic ASB7 ASB7 ENSG00000259381 Na Na Na Na Na Na Het;G>T 182;12|10 Ref Hom;G>T 352;0|16 N N - 15 101529118 101529118 C T snp intronic LRRK1 Lrrk1 ENSG00000154237 leucine rich repeat kinase 1 chr15:101459420-101610317 Parkinson's disease; Neuropsychological Tests Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for another knock-out allele exhibit severe osteopetrosis. GO:0006468;protein phosphorylation;IBA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0036035;osteoclast development;IEA|GO:0045453;bone resorption;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902533;positive regulation of intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004871;signal transducer activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRRK1 https://www.uniprot.org/uniprot/Q38SD2 https://www.ncbi.nlm.nih.gov/omim/?term=610986 http://www.informatics.jax.org/searchtool/Search.do?query=LRRK1&submit=Quick%0D%9746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK1 rs4357923 0.545327 0 0 1 0 0 intronic intronic intronic LRRK1 LRRK1 ENSG00000154237 Na Na Na Na Na Na Het;C>T 205;20|11 Ref Hom;C>T 282;0|9 N N - 15 101529314 101529314 A G snp intronic LRRK1 Lrrk1 ENSG00000154237 leucine rich repeat kinase 1 chr15:101459420-101610317 Parkinson's disease; Neuropsychological Tests Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for another knock-out allele exhibit severe osteopetrosis. GO:0006468;protein phosphorylation;IBA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0036035;osteoclast development;IEA|GO:0045453;bone resorption;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902533;positive regulation of intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004871;signal transducer activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRRK1 https://www.uniprot.org/uniprot/Q38SD2 https://www.ncbi.nlm.nih.gov/omim/?term=610986 http://www.informatics.jax.org/searchtool/Search.do?query=LRRK1&submit=Quick%0D%9746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK1 rs12915347 0.508586 0 0 1 0 0 intronic intronic intronic LRRK1 LRRK1 ENSG00000154237 Na Na Na Na Na Na Het;A>G 42;2|2 Ref Hom;A>G 180;0|5 N N - 15 101877012 101877016 CACTG C indel ncRNA_exonic PCSK6-AS1 rs36153676 0.639776 0 0 1 0 0 intronic intronic ncRNA_exonic PCSK6 PCSK6 ENSG00000259764 Na Na Na Na Na Na Het;-ACTG 2211;47|57 Ref Hom;-ACTG 2798;0|63 N N - 15 101887794 101887794 T C snp UTR3 *175A>G PCSK6 Pcsk6 ENSG00000140479 proprotein convertase subtilisin/kexin type 6 chr15:101840818-102065405 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014] Type 2 Diabetes| edema | rosiglitazone; blood pressure, arterial; Tobacco Use Disorder Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both. Assembly of active LPL and LIPC lipase complexes GO:0006508;proteolysis;IEA|GO:0007354;zygotic determination of anterior/posterior axis, embryo;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009100;glycoprotein metabolic process;IDA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0030510;regulation of BMP signaling pathway;TAS|GO:0032455;nerve growth factor processing;TAS|GO:0032902;nerve growth factor production;IDA|GO:0032940;secretion by cell;IDA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0070268;cornification;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IEA|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0048406;nerve growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCSK6 https://www.uniprot.org/uniprot/P29122 https://www.ncbi.nlm.nih.gov/omim/?term=167405 http://www.informatics.jax.org/searchtool/Search.do?query=PCSK6&submit=Quick%0D%8034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK6 rs1030 0.737021 0 0 1 0 0 UTR3 UTR3 UTR3 PCSK6(NM_138324:c.*134A>G,NM_138323:c.*175A>G) PCSK6(uc002bxc.1:c.*134A>G,uc002bxd.1:c.*175A>G) ENSG00000140479(ENST00000398181:c.*175A>G,ENST00000344273:c.*134A>G) Na Na Na Na Na Na Het;T>C 155;3|5 Ref Hom;T>C 137;0|4 N N - 15 101888081 101888081 C T snp intronic PCSK6 Pcsk6 ENSG00000140479 proprotein convertase subtilisin/kexin type 6 chr15:101840818-102065405 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014] Type 2 Diabetes| edema | rosiglitazone; blood pressure, arterial; Tobacco Use Disorder Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both. Assembly of active LPL and LIPC lipase complexes GO:0006508;proteolysis;IEA|GO:0007354;zygotic determination of anterior/posterior axis, embryo;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009100;glycoprotein metabolic process;IDA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0030510;regulation of BMP signaling pathway;TAS|GO:0032455;nerve growth factor processing;TAS|GO:0032902;nerve growth factor production;IDA|GO:0032940;secretion by cell;IDA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0070268;cornification;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IEA|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0048406;nerve growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCSK6 https://www.uniprot.org/uniprot/P29122 https://www.ncbi.nlm.nih.gov/omim/?term=167405 http://www.informatics.jax.org/searchtool/Search.do?query=PCSK6&submit=Quick%0D%8034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK6 rs875293 0.481829 0 0 1 0 0 intronic intronic intronic PCSK6 PCSK6 ENSG00000140479 Na Na Na Na Na Na Het;C>T 277;13|12 Ref Hom;C>T 548;0|18 N N - 15 101906205 101906205 T C snp intronic PCSK6 Pcsk6 ENSG00000140479 proprotein convertase subtilisin/kexin type 6 chr15:101840818-102065405 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014] Type 2 Diabetes| edema | rosiglitazone; blood pressure, arterial; Tobacco Use Disorder Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both. Assembly of active LPL and LIPC lipase complexes GO:0006508;proteolysis;IEA|GO:0007354;zygotic determination of anterior/posterior axis, embryo;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009100;glycoprotein metabolic process;IDA|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0030510;regulation of BMP signaling pathway;TAS|GO:0032455;nerve growth factor processing;TAS|GO:0032902;nerve growth factor production;IDA|GO:0032940;secretion by cell;IDA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0070268;cornification;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IEA|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0048406;nerve growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCSK6 https://www.uniprot.org/uniprot/P29122 https://www.ncbi.nlm.nih.gov/omim/?term=167405 http://www.informatics.jax.org/searchtool/Search.do?query=PCSK6&submit=Quick%0D%8034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK6 rs8029952 0.438498 0 0 1 0 0 intronic intronic intronic PCSK6 PCSK6 ENSG00000140479 Na Na Na Na Na Na Het;T>C 35;4|2 Ref Hom;T>C 95;0|4 N N - 15 102224341 102224341 G A snp synonymous SNV C1587T S529S polar,hydrophilic,neutral polar,hydrophilic,neutral TARSL2 Tarsl2 ENSG00000185418 threonyl-tRNA synthetase like 2 chr15:102193801-102264807 Tobacco Use Disorder GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA http://www.genecards.org/index.php?path=/Search/keyword/TARSL2 http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2 rs12901450 0.398762 0.2540 0.3345 1 0 0 exonic exonic exonic TARSL2 TARSL2 ENSG00000185418 synonymous SNV synonymous SNV unknown TARSL2:NM_152334:exon12:c.C1587T:p.S529S, TARSL2:uc002bxm.3:exon12:c.C1587T:p.S529S,TARSL2:uc002bxl.3:exon5:c.C222T:p.S74S, UNKNOWN Het;G>A 312;50|17 Het;G>A 823;45|40 Hom;G>A 2703;0|99 N N - 15 102251993 102251993 G A snp intronic TARSL2 Tarsl2 ENSG00000185418 threonyl-tRNA synthetase like 2 chr15:102193801-102264807 Tobacco Use Disorder GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA http://www.genecards.org/index.php?path=/Search/keyword/TARSL2 http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2 rs11247320 0.625599 0 0 1 0 0 intronic intronic intronic TARSL2 TARSL2 ENSG00000185418 Na Na Na Na Na Na Het;G>A 370;3|13 Ref Hom;G>A 265;0|8 N N - 15 102264304 102264304 G C snp nonsynonymous SNV C287G A96G aliphatic,hydrophobic,neutral aliphatic,neutral TARSL2 Tarsl2 ENSG00000185418 threonyl-tRNA synthetase like 2 chr15:102193801-102264807 Tobacco Use Disorder GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA http://www.genecards.org/index.php?path=/Search/keyword/TARSL2 http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2 rs1143138 0.458666 0.1842 0.5845 0.08 1 12 exonic exonic exonic TARSL2 TARSL2 ENSG00000185418 nonsynonymous SNV nonsynonymous SNV unknown TARSL2:NM_152334:exon1:c.C287G:p.A96G, TARSL2:uc002bxm.3:exon1:c.C287G:p.A96G, UNKNOWN Het;G>C 116;6|5 Het;G>C 196;7|8 Hom;G>C 505;0|19 N N - 15 20450587 20450587 T C snp ncRNA_intronic AC126603.1 rs3936466 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),CHEK2P2(dist=37410) DQ592463(dist=4505),CHEK2P2(dist=37410) ENSG00000258628 Na Na Na Na Na Na Het;T>C 46;3|3 Ref Hom;T>C 92;0|3 N N - 15 20492132 20492136 GATAT G indel ncRNA_intronic CHEK2P2 rs143120786 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CHEK2P2 CHEK2P2 ENSG00000259156 Na Na Na Na Na Na Het;-ATAT 173;1|6 Ref Hom;-ATAT 89;0|3 N N - 15 20500662 20500672 AGTGTGTGTGG A indel intergenic CHEK2P2 rs370434109 0 0 0 1 0 0 intergenic intergenic intergenic CHEK2P2(dist=3851),HERC2P3(dist=112978) CHEK2P2(dist=3851),HERC2P3(dist=87696) ENSG00000259156(dist=3823),ENSG00000258654(dist=49317) Na Na Na Na Na Na Het;-GTGTGTGTGG 35;4|2 Ref Hom;-GTGTGTGTGG 98;0|3 N N - 15 20536636 20536636 T C snp intergenic CHEK2P2 rs71466692 0.102436 0 0 1 0 0 intergenic intergenic intergenic CHEK2P2(dist=39825),HERC2P3(dist=77014) CHEK2P2(dist=39825),HERC2P3(dist=51732) ENSG00000259156(dist=39797),ENSG00000258654(dist=13353) Na Na Na Na Na Na Het;T>C 464;116|30 Ref Hom;T>C 907;0|32 N N - 15 20536679 20536679 A T snp intergenic CHEK2P2 rs3087727 0 0 0 1 0 0 intergenic intergenic intergenic CHEK2P2(dist=39868),HERC2P3(dist=76971) CHEK2P2(dist=39868),HERC2P3(dist=51689) ENSG00000259156(dist=39840),ENSG00000258654(dist=13310) Na Na Na Na Na Na Het;A>T 2978;51|128 Het;A>T 1846;24|81 Hom;A>T 951;0|35 N N - 15 20561114 20561114 T TTTTC indel ncRNA_intronic AC026495.1 rs113094713 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic CHEK2P2(dist=64303),HERC2P3(dist=52536) CHEK2P2(dist=64303),HERC2P3(dist=27254) ENSG00000258654 Na Na Na Na Na Na Het;+TTTC 1095;20|55 Het;+TTTC 944;9|42 Hom;+TTTC 1037;3|42 N N - 15 22147948 22147948 T C snp ncRNA_intronic abParts rs372468280 0 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic NF1P2(dist=2146),MIR5701-3(dist=8818) abParts ENSG00000258997 Na Na Na Na Na Na Het;T>C 53;3|3 Het;T>C 118;2|5 Hom;T>C 188;0|5 N N - 15 22148845 22148845 A G snp ncRNA_intronic abParts rs151092027 0 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic NF1P2(dist=3043),MIR5701-3(dist=7921) abParts ENSG00000258997 Na Na Na Na Na Na Het;A>G 534;5|22 Het;A>G 718;8|26 Hom;A>G 482;0|18 N N - 15 22156928 22156928 G C snp downstream MIR5701-3 rs150801989 0.385184 0 0 1 0 0 downstream ncRNA_intronic downstream MIR5701-1,MIR5701-2,MIR5701-3 abParts ENSG00000264902 Na Na Na Na Na Na Het;G>C 1085;7|33 Het;G>C 535;18|19 Hom;G>C 674;0|24 N N - 15 22303288 22303288 G A snp ncRNA_intronic abParts rs1835185 0.717252 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927079,LOC727924 abParts ENSG00000259176 Na Na Na Na Na Na Het;G>A 1564;34|68 Het;G>A 530;41|27 Hom;G>A 1967;0|78 N N - 15 22318963 22318963 A T snp ncRNA_exonic LOC101927079 rs1429506 0.751198 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic LOC101927079,LOC727924 abParts ENSG00000259176,ENSG00000259324 Na Na Na Na Na Na Het;A>T 382;11|18 Het;A>T 511;17|24 Hom;A>T 1583;0|60 N N - 15 22368862 22368862 G A snp nonsynonymous SNV G287A G96E aliphatic,neutral polar,hydrophilic,charged(-) OR4M2 ENSG00000274102 olfactory receptor family 4 subfamily M member 2 chr15:22368478-22369561 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4M2 http://www.informatics.jax.org/searchtool/Search.do?query=OR4M2&submit=Quick%0D%21042ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4M2 rs1835183 0 0.5590 0.6277 0.60 6 10 exonic exonic exonic OR4M2 OR4M2 ENSG00000182974 nonsynonymous SNV nonsynonymous SNV unknown OR4M2:NM_001004719:exon1:c.G287A:p.G96E, OR4M2:uc010tzu.2:exon1:c.G287A:p.G96E, UNKNOWN Het;G>A 8042;146|312 Het;G>A 8153;165|322 Hom;G>A 14391;2|507 N N - 15 22368905 22368905 G A snp synonymous SNV G330A S110S polar,hydrophilic,neutral polar,hydrophilic,neutral OR4M2 ENSG00000274102 olfactory receptor family 4 subfamily M member 2 chr15:22368478-22369561 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4M2 http://www.informatics.jax.org/searchtool/Search.do?query=OR4M2&submit=Quick%0D%21042ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4M2 rs1835182 0 0.5484 0.6097 1 0 0 exonic exonic exonic OR4M2 OR4M2 ENSG00000182974 synonymous SNV synonymous SNV unknown OR4M2:NM_001004719:exon1:c.G330A:p.S110S, OR4M2:uc010tzu.2:exon1:c.G330A:p.S110S, UNKNOWN Het;G>A 6482;108|252 Het;G>A 6586;161|255 Hom;G>A 10561;1|367 N N - 15 22545695 22545695 G GCCCGT indel upstream REREP3 Na 0 0 0 1 0 0 upstream ncRNA_intronic upstream REREP3 abParts ENSG00000259098 Na Na Na Na Na Na Het;+CCCGT 191;7|6 Ref Hom;+CCCGT 110;0|3 N N - 15 22940670 22940670 C T snp intronic CYFIP1 Cyfip1 ENSG00000280618 cytoplasmic FMR1 interacting protein 1 chr15:22892005-23006016 Waist Circumference; Body Mass Index; E-Selectin Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity. http://www.genecards.org/index.php?path=/Search/keyword/CYFIP1 https://www.ncbi.nlm.nih.gov/omim/?term=606322 http://www.informatics.jax.org/searchtool/Search.do?query=CYFIP1&submit=Quick%0D%22226ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYFIP1 rs3751566 0.189896 0 0 1 0 0 intronic intronic intronic CYFIP1 CYFIP1 ENSG00000068793 Na Na Na Na Na Na Het;C>T 584;21|23 Het;C>T 743;27|31 Hom;C>T 1776;0|61 N N - 15 22944911 22944911 C T snp intronic CYFIP1 Cyfip1 ENSG00000280618 cytoplasmic FMR1 interacting protein 1 chr15:22892005-23006016 Waist Circumference; Body Mass Index; E-Selectin Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity. http://www.genecards.org/index.php?path=/Search/keyword/CYFIP1 https://www.ncbi.nlm.nih.gov/omim/?term=606322 http://www.informatics.jax.org/searchtool/Search.do?query=CYFIP1&submit=Quick%0D%22226ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYFIP1 rs11634789 0.199281 0 0 1 0 0 intronic intronic intronic CYFIP1 CYFIP1 ENSG00000068793 Na Na Na Na Na Na Het;C>T 256;17|11 Het;C>T 97;7|4 Hom;C>T 422;0|16 N N - 15 22955307 22955308 AC A indel UTR3 *12_*13delinsA ENSG00000068793 rs3217548 0.526358 0.5578 0.5836 1 0 0 intronic intronic UTR3 CYFIP1 CYFIP1 ENSG00000068793(ENST00000558549:c.*12_*13delinsA) Na Na Na Na Na Na Het;-C 873;23|30 Het;-C 749;31|27 Hom;-C 1744;0|50 N N - 15 23157398 23157398 A G snp downstream ENSG00000230856 rs7173344 0.485224 0 0 1 0 0 intergenic intergenic downstream LOC283683(dist=42144),WHAMMP3(dist=30331) LOC283683(dist=42144),WHAMMP3(dist=30331) ENSG00000230856 Na Na Na Na Na Na Het;A>G 547;37|22 Het;A>G 645;12|22 Hom;A>G 824;1|27 N N - 15 23200800 23200801 TA T indel ncRNA_intronic WHAMMP3 rs200557911 0.0714856 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic WHAMMP3 WHAMMP3 ENSG00000187667 Na Na Na Na Na Na Het;-A 1356;42|66 Het;-A 813;39|42 Hom;-A 2147;2|88 N N - 15 23263871 23263871 A G snp ncRNA_exonic ENSG00000244736 rs3894595 0.609026 0 0 1 0 0 intergenic downstream ncRNA_exonic GOLGA8IP(dist=1128),HERC2P2(dist=18394) DQ572979 ENSG00000244736 Na Na Na Na Na Na Het;A>G 654;20|22 Het;A>G 291;7|10 Hom;A>G 419;0|13 N N - 15 23263933 23263933 G A snp ncRNA_exonic ENSG00000244736 rs1960146 0.582867 0 0 1 0 0 intergenic upstream;downstream ncRNA_exonic GOLGA8IP(dist=1190),HERC2P2(dist=18332) JB175342;DQ572979 ENSG00000244736 Na Na Na Na Na Na Het;G>A 1123;33|29 Het;G>A 822;16|22 Hom;G>A 1131;0|25 N N - 15 23263935 23263935 A T snp ncRNA_exonic ENSG00000244736 rs3894596 0.583067 0 0 1 0 0 intergenic upstream;downstream ncRNA_exonic GOLGA8IP(dist=1192),HERC2P2(dist=18330) JB175342;DQ572979 ENSG00000244736 Na Na Na Na Na Na Het;A>T 1123;33|30 Het;A>T 822;18|21 Hom;A>T 1131;0|26 N N - 15 24200150 24200150 G A snp intergenic NDN Ndn ENSG00000182636 necdin, MAGE family member chr15:23930565-23932450 This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008] Body Weight Regulation; Fibrinogen; plasma HDL cholesterol (HDL-C) levels; Neoplasms; body mass; Blood Pressure; Erythrocyte Count; Hemoglobins; Urinalysis; Autism; Sleep Apnea, Obstructive Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. Interleukin-4 and 13 signaling GO:0001764;neuron migration;IEA|GO:0003016;respiratory system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007399;nervous system development;TAS|GO:0007409;axonogenesis;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007417;central nervous system development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0008347;glial cell migration;IEA|GO:0009791;post-embryonic development;IEA|GO:0019233;sensory perception of pain;IEA|GO:0040008;regulation of growth;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048666;neuron development;IEA|GO:0048675;axon extension;IEA|GO:0048871;multicellular organismal homeostasis;IEA|GO:0071514;genetic imprinting;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;IEA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDN https://hpo.jax.org/app/browse/search?q=NDN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602117 http://www.informatics.jax.org/searchtool/Search.do?query=NDN&submit=Quick%0D%14831ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDN rs68001579 0.311701 0 0 1 0 0 intergenic intergenic intergenic NDN(dist=267700),PWRN4(dist=20144) NDN(dist=267700),AK124131(dist=209774) ENSG00000261622(dist=13287),ENSG00000260232(dist=20169) Na Na Na Na Na Na Het;G>A 100;23|7 Ref Hom;G>A 391;0|15 N N - 15 24200178 24200178 C T snp intergenic NDN Ndn ENSG00000182636 necdin, MAGE family member chr15:23930565-23932450 This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008] Body Weight Regulation; Fibrinogen; plasma HDL cholesterol (HDL-C) levels; Neoplasms; body mass; Blood Pressure; Erythrocyte Count; Hemoglobins; Urinalysis; Autism; Sleep Apnea, Obstructive Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. Interleukin-4 and 13 signaling GO:0001764;neuron migration;IEA|GO:0003016;respiratory system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007399;nervous system development;TAS|GO:0007409;axonogenesis;IEA|GO:0007413;axonal fasciculation;IEA|GO:0007417;central nervous system development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0008347;glial cell migration;IEA|GO:0009791;post-embryonic development;IEA|GO:0019233;sensory perception of pain;IEA|GO:0040008;regulation of growth;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048666;neuron development;IEA|GO:0048675;axon extension;IEA|GO:0048871;multicellular organismal homeostasis;IEA|GO:0071514;genetic imprinting;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;IEA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDN https://hpo.jax.org/app/browse/search?q=NDN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602117 http://www.informatics.jax.org/searchtool/Search.do?query=NDN&submit=Quick%0D%14831ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDN rs67401457 0.306909 0 0 1 0 0 intergenic intergenic intergenic NDN(dist=267728),PWRN4(dist=20116) NDN(dist=267728),AK124131(dist=209746) ENSG00000261622(dist=13315),ENSG00000260232(dist=20141) Na Na Na Na Na Na Het;C>T 95;22|7 Ref Hom;C>T 444;0|18 N N - 15 24248490 24248490 G GCAGT indel ncRNA_exonic PWRN4 rs374051609 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic PWRN4 NDN(dist=316040),AK124131(dist=161434) ENSG00000260232 Na Na Na Na Na Na Het;+CAGT 223;39|9 Het;+CAGT 952;48|26 Hom;+CAGT 2691;0|61 N N - 15 24360056 24360056 T C snp intergenic PWRN4 rs12442526 0.613818 0 0 1 0 0 intergenic intergenic intergenic PWRN4(dist=26755),PWRN2(dist=49870) NDN(dist=427606),AK124131(dist=49868) ENSG00000260232(dist=111474),ENSG00000260551(dist=47845) Na Na Na Na Na Na Het;T>C 342;20|16 Het;T>C 330;22|15 Hom;T>C 1079;0|38 N N - 15 24363136 24363136 G C snp intergenic PWRN4 rs12900046 0.614417 0 0 1 0 0 intergenic intergenic intergenic PWRN4(dist=29835),PWRN2(dist=46790) NDN(dist=430686),AK124131(dist=46788) ENSG00000260232(dist=114554),ENSG00000260551(dist=44765) Na Na Na Na Na Na Het;G>C 2163;42|56 Het;G>C 2355;53|97 Hom;G>C 4634;0|135 N N - 15 24369643 24369643 T C snp intergenic PWRN4 rs1110961 0.616813 0 0 1 0 0 intergenic intergenic intergenic PWRN4(dist=36342),PWRN2(dist=40283) NDN(dist=437193),AK124131(dist=40281) ENSG00000260232(dist=121061),ENSG00000260551(dist=38258) Na Na Na Na Na Na Het;T>C 37;6|3 Het;T>C 220;1|10 Hom;T>C 354;0|14 N N - 15 24411903 24411903 G A snp ncRNA_exonic PWRN2 rs6576676 0.829273 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PWRN2 AK124131,PWRN2 ENSG00000260551 Na Na Na Na Na Na Het;G>A 2873;120|124 Het;G>A 2531;117|108 Hom;G>A 5127;2|192 N N - 15 24413466 24413466 C T snp ncRNA_exonic PWRN2 rs4238505 0.8123 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PWRN2 AK124131,PWRN2 ENSG00000260551 Na Na Na Na Na Na Het;C>T 2071;85|60 Het;C>T 1842;56|80 Hom;C>T 4475;0|121 N N - 15 24422924 24422924 T C snp intergenic PWRN2 rs8025204 0.832268 0 0 1 0 0 intergenic intergenic intergenic PWRN2(dist=7871),PWRN3(dist=263350) AK124131(dist=7829),PWRN1(dist=355915) ENSG00000260551(dist=7829),ENSG00000260780(dist=29007) Na Na Na Na Na Na Het;T>C 240;13|9 Het;T>C 327;8|10 Hom;T>C 504;0|15 N N - 15 24423135 24423135 G T snp intergenic PWRN2 rs6576680 0.827077 0 0 1 0 0 intergenic intergenic intergenic PWRN2(dist=8082),PWRN3(dist=263139) AK124131(dist=8040),PWRN1(dist=355704) ENSG00000260551(dist=8040),ENSG00000260780(dist=28796) Na Na Na Na Na Na Het;G>T 1055;46|49 Het;G>T 1381;32|60 Hom;G>T 2309;0|86 N N - 15 24423263 24423263 T G snp intergenic PWRN2 rs6576682 0.516973 0 0 1 0 0 intergenic intergenic intergenic PWRN2(dist=8210),PWRN3(dist=263011) AK124131(dist=8168),PWRN1(dist=355576) ENSG00000260551(dist=8168),ENSG00000260780(dist=28668) Na Na Na Na Na Na Het;T>G 66;6|3 Het;T>G 209;3|8 Hom;T>G 247;0|9 N N - 15 24424412 24424412 C T snp intergenic PWRN2 rs8043122 0.636781 0 0 1 0 0 intergenic intergenic intergenic PWRN2(dist=9359),PWRN3(dist=261862) AK124131(dist=9317),PWRN1(dist=354427) ENSG00000260551(dist=9317),ENSG00000260780(dist=27519) Na Na Na Na Na Na Het;C>T 1175;63|49 Het;C>T 1027;41|45 Hom;C>T 2191;0|78 N N - 15 24440796 24440796 A G snp intergenic PWRN2 rs1846355 0.71885 0 0 1 0 0 intergenic intergenic intergenic PWRN2(dist=25743),PWRN3(dist=245478) AK124131(dist=25701),PWRN1(dist=338043) ENSG00000260551(dist=25701),ENSG00000260780(dist=11135) Na Na Na Na Na Na Het;A>G 32;9|4 Het;A>G 137;2|7 Hom;A>G 400;0|16 N N - 15 24723085 24723085 C G snp intergenic PWRN3 rs28481904 0.460264 0 0 1 0 0 intergenic intergenic intergenic PWRN3(dist=29971),PWRN1(dist=80219) AK124131(dist=307990),PWRN1(dist=55754) ENSG00000260760(dist=29971),ENSG00000259905(dist=15199) Na Na Na Na Na Na Het;C>G 260;5|8 Het;C>G 137;3|5 Hom;C>G 271;0|7 N N - 15 24997628 24997628 A G snp intergenic NPAP1 ENSG00000185823 nuclear pore associated protein 1 chr15:24920541-24928593 This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012] Echocardiography GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005654;nucleoplasm;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/NPAP1 https://hpo.jax.org/app/browse/search?q=NPAP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610922 http://www.informatics.jax.org/searchtool/Search.do?query=NPAP1&submit=Quick%0D%15498ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAP1 rs2072666 0.656749 0 0 1 0 0 intergenic intergenic intergenic NPAP1(dist=69035),SNRPN(dist=71166) NPAP1(dist=69035),SNRPN(dist=71166) ENSG00000185823(dist=69035),ENSG00000128739(dist=71166) Na Na Na Na Na Na Het;A>G 44;4|2 Ref Hom;A>G 149;0|5 N N - 15 25229950 25229950 C G snp upstream PWAR5 rs3096608 0 0 0 1 0 0 upstream intronic ncRNA_intronic PWAR5,SNORD64 SNRPN ENSG00000224078 Na Na Na Na Na Na Het;C>G 169;2|4 Het;C>G 286;1|7 Hom;C>G 353;1|10 N N - 15 28249194 28249194 G A snp intronic OCA2 Oca2 ENSG00000277361 OCA2 melanosomal transmembrane protein chr15:28000021-28344504 This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Black vs red hair color; melanoma; Hermansky-Pudlak syndrome; null; skin cancer risk factors; Hair Color; lung cancer ; Parkinson's disease (age of onset); Type 2 Diabetes| edema | rosiglitazone; Socioeconomic Factors; Melanoma|Skin Neoplasms; oculocutaneous albinism; Blue vs green eyes; Melanoma; human pigmentation; chronic obstructive pulmonary disease; Blue vs brown eyes; Hip; Lymphoma, Non-Hodgkin; bladder cancer; Black vs blond hair color; Tobacco Use Disorder; Prader-Willi and Angelman syndromes; Blond vs brown hair color; lung cancer; melanoma|Skin Neoplasms; tanning phenotype; Retinal Diseases; Albinism, Oculocutaneous; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality. GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/OCA2 https://hpo.jax.org/app/browse/search?q=OCA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611409 http://www.informatics.jax.org/searchtool/Search.do?query=OCA2&submit=Quick%0D%21815ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OCA2 rs118101773 0.0483227 0 0 1 0 0 intronic intronic intronic OCA2 OCA2 ENSG00000104044 Na Na Na Na Na Na Het;G>A 84;6|6 Het;G>A 68;2|5 Hom;G>A 170;0|8 N N - 15 32820574 32820574 T C snp ncRNA_intronic WHAMMP1 rs78205767 0.647165 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic WHAMMP1 WHAMMP1 ENSG00000223509 Na Na Na Na Na Na Het;T>C 218;2|6 Ref Hom;T>C 185;0|5 N N - 15 32820575 32820575 G A snp ncRNA_intronic WHAMMP1 rs76215359 0.239816 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic WHAMMP1 WHAMMP1 ENSG00000223509 Na Na Na Na Na Na Het;G>A 218;2|6 Ref Hom;G>A 185;0|5 N N - 15 33062878 33062878 T C snp UTR3 *3633A>G FMN1 Fmn1 ENSG00000282513 formin 1 chr15:33057747-33486897 This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015] Hemoglobins; Exercise Test; Carotid Artery Diseases; Cholesterol, LDL; Neuroblastoma; Iron; nonsyndromic cleft lip with or without cleft palate; Fibrinogen; Pancreatitis, Alcoholic|Pancreatitis, Chronic; Cystatins; Blood Flow Velocity; Erythrocyte Count; Tobacco Use Disorder; prostate cancer Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed. GO:0045010;actin nucleation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0003779;actin binding;IEA|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FMN1 https://www.ncbi.nlm.nih.gov/omim/?term=136535 http://www.informatics.jax.org/searchtool/Search.do?query=FMN1&submit=Quick%0D%22530ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMN1 rs1979167 0.524161 0 0 1 0 0 UTR3 UTR3 UTR3 FMN1(NM_001103184:c.*3633A>G,NM_001277313:c.*3633A>G) FMN1(uc001zhf.5:c.*3633A>G,uc031qrh.1:c.*3633A>G) ENSG00000248905(ENST00000334528:c.*3633A>G) Na Na Na Na Na Na Het;T>C 88;2|5 Ref Hom;T>C 101;0|4 N N - 15 36819153 36819153 C G snp intergenic MIR4510 rs8042165 0.549521 0 0 1 0 0 intergenic intergenic intergenic MIR4510(dist=600029),C15orf41(dist=52651) MIR4510(dist=600029),C15orf41(dist=52659) ENSG00000259737(dist=55936),ENSG00000270500(dist=45033) Na Na Na Na Na Na Het;C>G 396;24|20 Het;C>G 737;30|37 Hom;C>G 1852;0|72 N N - 15 36909704 36909704 A G snp ncRNA_exonic AC103988.1 rs4924089 0.249201 0 0 1 0 0 intronic intronic ncRNA_exonic C15orf41 C15orf41 ENSG00000261315 Na Na Na Na Na Na Het;A>G 1161;46|44 Het;A>G 972;49|40 Hom;A>G 2812;0|88 N N - 15 36910962 36910964 CAA C indel ncRNA_exonic AC103988.1 rs34933565 0.346246 0 0 1 0 0 intronic intronic ncRNA_exonic C15orf41 C15orf41 ENSG00000261315 Na Na Na Na Na Na Het;-AA 319;4|13 Ref Hom;-AA 566;0|18 N N - 15 36911449 36911449 G A snp ncRNA_exonic AC103988.1 rs12437809 0.249601 0 0 1 0 0 intronic intronic ncRNA_exonic C15orf41 C15orf41 ENSG00000261315 Na Na Na Na Na Na Het;G>A 66;18|5 Het;G>A 58;9|4 Hom;G>A 665;0|24 N N - 15 36911482 36911482 A G snp intronic C15orf41 BC052040 ENSG00000186073 chromosome 15 open reading frame 41 chr15:36871812-37102449 This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Cholesterol, HDL; Potassium; Type 2 Diabetes| edema | rosiglitazone http://www.genecards.org/index.php?path=/Search/keyword/C15orf41 https://www.ncbi.nlm.nih.gov/omim/?term=615626 http://www.informatics.jax.org/searchtool/Search.do?query=C15orf41&submit=Quick%0D%15557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C15orf41 rs58171141 0.251997 0 0 1 0 0 intronic intronic intronic C15orf41 C15orf41 ENSG00000186073 Na Na Na Na Na Na Het;A>G 81;18|5 Het;A>G 78;9|4 Hom;A>G 424;0|16 N N - 15 37398512 37398512 G T snp intergenic MEIS2 Meis2 ENSG00000134138 Meis homeobox 2 chr15:37181406-37393504 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; hyperactive-impulsive symptoms; Cardiovascular Diseases|Ventricular Dysfunction, Left; response to antipsychotic treatment; Risperidone; Body Mass Index; Attention Deficit Disorder with Hyperactivity; Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Eosinophils Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001654;eye development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0008542;visual learning;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0031016;pancreas development;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070848;response to growth factor;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003712;transcription cofactor activity;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEIS2 https://www.uniprot.org/uniprot/O14770 https://hpo.jax.org/app/browse/search?q=MEIS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601740 http://www.informatics.jax.org/searchtool/Search.do?query=MEIS2&submit=Quick%0D%6917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIS2 rs12591888 0.478834 0 0 1 0 0 intergenic intergenic intergenic MEIS2(dist=5012),TMCO5A(dist=828296) MEIS2(dist=5012),TMCO5A(dist=828315) ENSG00000134138(dist=5008),ENSG00000270304(dist=147568) Na Na Na Na Na Na Het;G>T 268;3|8 Ref Hom;G>T 231;0|6 N N - 15 37398515 37398515 G T snp intergenic MEIS2 Meis2 ENSG00000134138 Meis homeobox 2 chr15:37181406-37393504 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; hyperactive-impulsive symptoms; Cardiovascular Diseases|Ventricular Dysfunction, Left; response to antipsychotic treatment; Risperidone; Body Mass Index; Attention Deficit Disorder with Hyperactivity; Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Eosinophils Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001654;eye development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0008542;visual learning;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0031016;pancreas development;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070848;response to growth factor;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003712;transcription cofactor activity;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEIS2 https://www.uniprot.org/uniprot/O14770 https://hpo.jax.org/app/browse/search?q=MEIS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601740 http://www.informatics.jax.org/searchtool/Search.do?query=MEIS2&submit=Quick%0D%6917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIS2 rs61525513 0.287141 0 0 1 0 0 intergenic intergenic intergenic MEIS2(dist=5015),TMCO5A(dist=828293) MEIS2(dist=5015),TMCO5A(dist=828312) ENSG00000134138(dist=5011),ENSG00000270304(dist=147565) Na Na Na Na Na Na Het;G>T 268;3|7 Ref Hom;G>T 231;0|6 N N - 15 37842057 37842057 G A snp intergenic MEIS2 Meis2 ENSG00000134138 Meis homeobox 2 chr15:37181406-37393504 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; hyperactive-impulsive symptoms; Cardiovascular Diseases|Ventricular Dysfunction, Left; response to antipsychotic treatment; Risperidone; Body Mass Index; Attention Deficit Disorder with Hyperactivity; Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Eosinophils Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001654;eye development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0008542;visual learning;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0031016;pancreas development;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070848;response to growth factor;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003712;transcription cofactor activity;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEIS2 https://www.uniprot.org/uniprot/O14770 https://hpo.jax.org/app/browse/search?q=MEIS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601740 http://www.informatics.jax.org/searchtool/Search.do?query=MEIS2&submit=Quick%0D%6917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIS2 rs7182004 0.601438 0 0 1 0 0 intergenic intergenic intergenic MEIS2(dist=448557),TMCO5A(dist=384751) MEIS2(dist=448557),TMCO5A(dist=384770) ENSG00000243122(dist=58753),ENSG00000166069(dist=372083) Na Na Na Na Na Na Het;G>A 654;43|35 Het;G>A 622;19|27 Hom;G>A 1405;0|54 N N - 15 37842154 37842154 C G snp intergenic MEIS2 Meis2 ENSG00000134138 Meis homeobox 2 chr15:37181406-37393504 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; hyperactive-impulsive symptoms; Cardiovascular Diseases|Ventricular Dysfunction, Left; response to antipsychotic treatment; Risperidone; Body Mass Index; Attention Deficit Disorder with Hyperactivity; Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Eosinophils Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001654;eye development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0008542;visual learning;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0031016;pancreas development;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070848;response to growth factor;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003712;transcription cofactor activity;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEIS2 https://www.uniprot.org/uniprot/O14770 https://hpo.jax.org/app/browse/search?q=MEIS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601740 http://www.informatics.jax.org/searchtool/Search.do?query=MEIS2&submit=Quick%0D%6917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIS2 rs7183493 0.611621 0 0 1 0 0 intergenic intergenic intergenic MEIS2(dist=448654),TMCO5A(dist=384654) MEIS2(dist=448654),TMCO5A(dist=384673) ENSG00000243122(dist=58850),ENSG00000166069(dist=371986) Na Na Na Na Na Na Het;C>G 104;13|6 Het;C>G 120;1|4 Hom;C>G 133;0|4 N N - 15 38750987 38750987 T C snp ncRNA_exonic AC109631.1 rs8030757 0.688099 0 0 1 0 0 intronic intronic ncRNA_exonic FAM98B FAM98B ENSG00000259192 Na Na Na Na Na Na Het;T>C 462;5|11 Het;T>C 296;11|13 Hom;T>C 681;0|21 N N - 15 38804020 38804020 T TA indel intronic RASGRP1 Rasgrp1 ENSG00000172575 RAS guanyl releasing protein 1 chr15:38780304-38857776 This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008] type 1 diabetes; diabetes, type 1 ; Diabetes Mellitus, Type 1; Bipolar Disorder; Bipolar disorder; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Blood Pressure; Autism Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0001816;cytokine production;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0030154;cell differentiation;IEA|GO:0032252;secretory granule localization;IEA|GO:0032725;positive regulation of granulocyte macrophage colony-stimulating factor production;IMP|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0032816;positive regulation of natural killer cell activation;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043303;mast cell degranulation;IEA|GO:0043406;positive regulation of MAP kinase activity;IMP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046579;positive regulation of Ras protein signal transduction;IMP|GO:0047496;vesicle transport along microtubule;IEA|GO:0051259;protein oligomerization;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090630;activation of GTPase activity;IDA|GO:1902715;positive regulation of interferon-gamma secretion;IMP GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0042629;mast cell granule;IEA GO:0001786;phosphatidylserine binding;IMP|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005509;calcium ion binding;TAS|GO:0008270;zinc ion binding;IMP|GO:0008289;lipid binding;TAS|GO:0019992;diacylglycerol binding;IMP|GO:0031210;phosphatidylcholine binding;IMP|GO:0042803;protein homodimerization activity;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGRP1 https://hpo.jax.org/app/browse/search?q=RASGRP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603962 http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP1&submit=Quick%0D%13193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP1 rs11413668 0.579673 0 0 1 0 0 intronic intronic intronic RASGRP1 RASGRP1 ENSG00000172575 Na Na Na Na Na Na Het;+A 249;8|9 Het;+A 119;5|5 Hom;+A 557;0|16 N N - 15 39089634 39089634 A AATAG indel intergenic C15orf53 ENSG00000175779 chromosome 15 open reading frame 53 chr15:38988799-38992239 Bipolar Disorder; Echocardiography; Lipoproteins, VLDL; Prostatic Neoplasms; Erythrocyte Count; Mortality; Hip; Cardiomegaly; Mental Competency; Blood Pressure; Heart Failure; Blood Pressure Determination; Blood Coagulation Factors; Stroke; Bipolar disorder; Intra-Abdominal Fat; Urinalysis; Triglycerides; Cholesterol, LDL http://www.genecards.org/index.php?path=/Search/keyword/C15orf53 http://www.informatics.jax.org/searchtool/Search.do?query=C15orf53&submit=Quick%0D%13752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C15orf53 rs144840489 0.459265 0 0 1 0 0 intergenic intergenic intergenic C15orf53(dist=97395),C15orf54(dist=453236) C15orf53(dist=97395),C15orf54(dist=453251) ENSG00000259731(dist=38020),ENSG00000259345(dist=67889) Na Na Na Na Na Na Het;+ATAG 1047;28|30 Het;+ATAG 1036;18|27 Hom;+ATAG 1936;1|48 N N - 15 39390253 39390253 A G snp ncRNA_intronic AC013652.1 rs11637989 0.365016 0 0 1 0 0 intergenic intergenic ncRNA_intronic C15orf53(dist=398014),C15orf54(dist=152617) C15orf53(dist=398014),C15orf54(dist=152632) ENSG00000259345 Na Na Na Na Na Na Het;A>G 563;35|26 Het;A>G 994;63|47 Hom;A>G 2702;2|103 N N - 15 39545148 39545148 C T snp UTR3 *260C>T C15orf54 rs13329154 0.178115 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic C15orf54(NM_001302797:c.*260C>T,NM_207445:c.*260C>T) C15orf54(uc001zkg.2:c.*260C>T) ENSG00000259345 Na Na Na Na Na Na Het;C>T 1064;44|41 Het;C>T 1342;73|60 Hom;C>T 3567;1|128 N N - 15 39759305 39759311 CCCTGGG C indel intergenic C15orf54 rs150862624 0.754792 0 0 1 0 0 intergenic intergenic intergenic C15orf54(dist=212262),THBS1(dist=113969) C15orf54(dist=212257),THBS1(dist=113969) ENSG00000259345(dist=39909),ENSG00000259269(dist=5593) Na Na Na Na Na Na Het;-CCTGGG 41;2|2 Ref Hom;-CCTGGG 143;0|4 N N - 15 40212050 40212050 G A snp intronic GPR176 Gpr176 ENSG00000166073 G protein-coupled receptor 176 chr15:40091233-40213093 Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008] Varicose Veins; Body Mass Index; Body Weight; Tobacco Use Disorder; Blood Pressure; Narcolepsy G alpha (s) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0030818;negative regulation of cAMP biosynthetic process;IEA|GO:0048511;rhythmic process;IEA|GO:0048512;circadian behavior;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GPR176 https://www.ncbi.nlm.nih.gov/omim/?term=612183 http://www.informatics.jax.org/searchtool/Search.do?query=GPR176&submit=Quick%0D%11689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR176 rs80137374 0.117212 0.0534 0.1655 1 0 0 intronic intronic intronic GPR176 GPR176 ENSG00000166073 Na Na Na Na Na Na Het;G>A 695;34|31 Het;G>A 631;29|29 Hom;G>A 2044;0|76 N N - 15 40218971 40218971 T C snp downstream AC012377.1 rs562159 0.558307 0 0 1 0 0 intergenic intergenic downstream GPR176(dist=5878),EIF2AK4(dist=7354) GPR176(dist=5878),EIF2AK4(dist=7376) ENSG00000246863 Na Na Na Na Na Na Het;T>C 169;3|7 Ref Hom;T>C 206;0|8 N N - 15 40226294 40226294 A G snp upstream EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs508281 0.613818 0 0 1 0 0 upstream upstream upstream EIF2AK4 EIF2AK4 ENSG00000128829 Na Na Na Na Na Na Het;A>G 45;3|3 Ref Hom;A>G 234;0|7 N N - 15 40231625 40231625 A T snp intronic EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs524240 0.525559 0 0 1 0 0 intronic intronic intronic EIF2AK4 EIF2AK4 ENSG00000128829 Na Na Na Na Na Na Het;A>T 291;16|13 Het;A>T 344;2|13 Hom;A>T 488;0|16 N N - 15 40247689 40247689 A G snp intronic EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs503830 0.865815 0 0 1 0 0 intronic intronic intronic EIF2AK4 EIF2AK4 ENSG00000128829 Na Na Na Na Na Na Het;A>G 231;3|7 Het;A>G 121;4|4 Hom;A>G 281;0|8 N N - 15 40259848 40259848 A C snp nonsynonymous SNV A508C I170L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs2291627 0.247404 0.1216 0.1491 0.23 3 13 exonic exonic exonic EIF2AK4 EIF2AK4 ENSG00000128829 nonsynonymous SNV nonsynonymous SNV unknown EIF2AK4:NM_001013703:exon9:c.A1321C:p.I441L, EIF2AK4:uc010bbj.1:exon4:c.A508C:p.I170L,EIF2AK4:uc001zkl.3:exon9:c.A1321C:p.I441L,EIF2AK4:uc001zkm.1:exon9:c.A1321C:p.I441L, UNKNOWN Het;A>C 1459;83|61 Het;A>C 1344;55|51 Hom;A>C 3319;2|118 N N - 15 40269079 40269079 G T snp intronic EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs77645462 0.114617 0.0468 0.0777 1 0 0 intronic intronic intronic EIF2AK4 EIF2AK4 ENSG00000128829 Na Na Na Na Na Na Het;G>T 1254;77|57 Het;G>T 1673;75|79 Hom;G>T 3941;0|145 N N - 15 40311212 40311212 G A snp intronic EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs17848496 0.126997 0 0 1 0 0 intronic intronic intronic EIF2AK4 EIF2AK4 ENSG00000128829 Na Na Na Na Na Na Het;G>A 491;10|17 Het;G>A 299;13|14 Hom;G>A 812;0|26 N N - 15 40322460 40322460 C T snp intronic EIF2AK4 Eif2ak4 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 chr15:40226347-40327797 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection. GO:0002230;positive regulation of defense response to virus by host;ISS|GO:0002250;adaptive immune response;IEA|GO:0002286;T cell activation involved in immune response;ISS|GO:0002376;immune system process;IEA|GO:0002821;positive regulation of adaptive immune response;ISS|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007399;nervous system development;IEA|GO:0007612;learning;ISS|GO:0007616;long-term memory;ISS|GO:0010998;regulation of translational initiation by eIF2 alpha phosphorylation;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0019081;viral translation;ISS|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032792;negative regulation of CREB transcription factor activity;ISS|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034644;cellular response to UV;ISS|GO:0036492;eiF2alpha phosphorylation in response to endoplasmic reticulum stress;IMP|GO:0039520;induction by virus of host autophagy;IEA|GO:0044828;negative regulation by host of viral genome replication;ISS|GO:0045665;negative regulation of neuron differentiation;ISS|GO:0045947;negative regulation of translational initiation;ISS|GO:0046777;protein autophosphorylation;ISS|GO:0051607;defense response to virus;IEA|GO:0060259;regulation of feeding behavior;ISS|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IMP|GO:0070417;cellular response to cold;IMP|GO:0071264;positive regulation of translational initiation in response to starvation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1990138;neuron projection extension;ISS|GO:1990253;cellular response to leucine starvation;ISS GO:0005737;cytoplasm;IEA|GO:0005844;polysome;ISS|GO:0022626;cytosolic ribosome;ISS GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004694;eukaryotic translation initiation factor 2alpha kinase activity;IMP|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2AK4 https://www.uniprot.org/uniprot/Q9P2K8 https://hpo.jax.org/app/browse/search?q=EIF2AK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609280 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2AK4&submit=Quick%0D%6186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2AK4 rs2307101 0.0722843 0 0 1 0 0 intronic intronic intronic EIF2AK4 EIF2AK4 ENSG00000128829 Na Na Na Na Na Na Het;C>T 207;7|8 Het;C>T 128;8|6 Hom;C>T 716;0|24 N N - 15 40397936 40397936 G T snp intronic BMF Bmf ENSG00000104081 Bcl2 modifying factor chr15:40380091-40401093 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary Mice homozygous for targeted knockout mutations show enlarged spleen, increased B cells and CD8-positive T cells, decreased B cells and T cells apoptosis, vagina atresia and hydrometrocolpos. Activation of BMF and translocation to mitochondria GO:0001844;protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:0006915;apoptotic process;IEA|GO:0010507;negative regulation of autophagy;IDA|GO:0032464;positive regulation of protein homooligomerization;ISS|GO:0034644;cellular response to UV;IDA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043276;anoikis;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;ISS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS GO:0001669;acrosomal vesicle;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016459;myosin complex;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BMF https://www.uniprot.org/uniprot/Q96LC9 https://www.ncbi.nlm.nih.gov/omim/?term=606266 http://www.informatics.jax.org/searchtool/Search.do?query=BMF&submit=Quick%0D%3076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BMF rs539846 0.526558 0 0 1 0 0 intronic intronic intronic BMF BMF ENSG00000104081 Na Na Na Na Na Na Het;G>T 464;13|17 Het;G>T 329;13|13 Hom;G>T 789;0|24 N N - 15 40557268 40557268 C A snp intronic PAK6 Pak6 ENSG00000137843 p21 (RAC1) activated kinase 6 chr15:40509629-40569688 This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Iron; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; esophageal adenocarcinoma; bladder cancer; lung cancer Mice homozygous for a null allele do not exhibit any abnormal phenotype. Activation of Rac GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAK6 https://www.uniprot.org/uniprot/Q9NQU5 https://www.ncbi.nlm.nih.gov/omim/?term=608110 http://www.informatics.jax.org/searchtool/Search.do?query=PAK6&submit=Quick%0D%7620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK6 rs936216 0.660942 0 0 1 0 0 intronic intronic intronic PAK6 PAK6 ENSG00000137843,ENSG00000259288 Na Na Na Na Na Na Het;C>A 472;18|18 Het;C>A 432;23|16 Hom;C>A 1353;0|39 N N - 15 40558744 40558744 G A snp intronic PAK6 Pak6 ENSG00000137843 p21 (RAC1) activated kinase 6 chr15:40509629-40569688 This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Iron; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; esophageal adenocarcinoma; bladder cancer; lung cancer Mice homozygous for a null allele do not exhibit any abnormal phenotype. Activation of Rac GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAK6 https://www.uniprot.org/uniprot/Q9NQU5 https://www.ncbi.nlm.nih.gov/omim/?term=608110 http://www.informatics.jax.org/searchtool/Search.do?query=PAK6&submit=Quick%0D%7620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK6 rs748556 0.506989 0.6702 0.6465 1 0 0 intronic intronic intronic PAK6 PAK6 ENSG00000137843,ENSG00000259288 Na Na Na Na Na Na Het;G>A 964;35|39 Het;G>A 501;24|22 Hom;G>A 1137;0|39 N N - 15 40573675 40573675 G T snp synonymous SNV C1113A T371T polar,hydrophilic,neutral polar,hydrophilic,neutral ANKRD63 Ankrd63 ENSG00000230778 ankyrin repeat domain 63 chr15:40573645-40574787 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD63 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD63&submit=Quick%0D%19000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD63 rs12440450 0.326478 0 0.3418 1 0 0 exonic exonic exonic ANKRD63 ANKRD63 ENSG00000230778 synonymous SNV synonymous SNV unknown ANKRD63:NM_001190479:exon1:c.C1113A:p.T371T, ANKRD63:uc021sjf.1:exon1:c.C1113A:p.T371T, UNKNOWN Het;G>T 512;39|28 Het;G>T 436;62|26 Hom;G>T 1736;0|63 N N - 15 40583107 40583107 T G snp intronic PLCB2 Plcb2 ENSG00000137841 phospholipase C beta 2 chr15:40570377-40600136 Schizophrenia; Type 2 Diabetes| edema | rosiglitazone; HIV; bronchodilator response; Narcolepsy; dyslexia Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. Presynaptic function of Kainate receptors GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0007202;activation of phospholipase C activity;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050913;sensory perception of bitter taste;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCB2 https://www.uniprot.org/uniprot/Q00722 https://www.ncbi.nlm.nih.gov/omim/?term=604114 http://www.informatics.jax.org/searchtool/Search.do?query=PLCB2&submit=Quick%0D%7618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCB2 rs117658605 0.323882 0 0 1 0 0 intronic intronic intronic PLCB2 PLCB2 ENSG00000137841 Na Na Na Na Na Na Het;T>G 253;4|8 Het;T>G 161;3|6 Hom;T>G 229;0|6 N N - 15 40589218 40589218 C G snp intronic PLCB2 Plcb2 ENSG00000137841 phospholipase C beta 2 chr15:40570377-40600136 Schizophrenia; Type 2 Diabetes| edema | rosiglitazone; HIV; bronchodilator response; Narcolepsy; dyslexia Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. Presynaptic function of Kainate receptors GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0007202;activation of phospholipase C activity;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050913;sensory perception of bitter taste;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCB2 https://www.uniprot.org/uniprot/Q00722 https://www.ncbi.nlm.nih.gov/omim/?term=604114 http://www.informatics.jax.org/searchtool/Search.do?query=PLCB2&submit=Quick%0D%7618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCB2 rs2305650 0.310104 0 0 1 0 0 intronic intronic intronic PLCB2 PLCB2 ENSG00000137841 Na Na Na Na Na Na Het;C>G 161;14|8 Het;C>G 191;4|7 Hom;C>G 173;0|6 N N - 15 40600198 40600198 G C snp upstream PLCB2 Plcb2 ENSG00000137841 phospholipase C beta 2 chr15:40570377-40600136 Schizophrenia; Type 2 Diabetes| edema | rosiglitazone; HIV; bronchodilator response; Narcolepsy; dyslexia Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. Presynaptic function of Kainate receptors GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0007202;activation of phospholipase C activity;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0016042;lipid catabolic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050913;sensory perception of bitter taste;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCB2 https://www.uniprot.org/uniprot/Q00722 https://www.ncbi.nlm.nih.gov/omim/?term=604114 http://www.informatics.jax.org/searchtool/Search.do?query=PLCB2&submit=Quick%0D%7618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCB2 rs3784400 0.713259 0 0 1 0 0 upstream upstream upstream PLCB2 PLCB2 ENSG00000137841 Na Na Na Na Na Na Het;G>C 61;3|3 Het;G>C 37;4|2 Hom;G>C 137;0|4 N N - 15 40703609 40703609 A G snp intronic IVD Ivd ENSG00000128928 isovaleryl-CoA dehydrogenase chr15:40697686-40728146 Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] Acquired Immunodeficiency Syndrome|Disease Progression; Metabolism; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Branched-chain amino acid catabolism GO:0006552;leucine catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0031966;mitochondrial membrane;IEA GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0008470;isovaleryl-CoA dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IVD https://www.uniprot.org/uniprot/P26440 https://hpo.jax.org/app/browse/search?q=IVD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607036 http://www.informatics.jax.org/searchtool/Search.do?query=IVD&submit=Quick%0D%6198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IVD rs4924466 0.978435 0 0 1 0 0 intronic intronic intronic IVD IVD ENSG00000128928 Na Na Na Na Na Na Het;A>G 1115;51|43 Het;A>G 754;39|35 Hom;A>G 2185;0|76 N N - 15 40920144 40920144 C T snp intronic CASC5 Casc5 rs6492957 0.786342 0 0 1 0 0 intronic intronic intronic CASC5 CASC5 ENSG00000137812 Na Na Na Na Na Na Het;C>T 301;14|11 Ref Hom;C>T 362;0|10 N N - 15 41063244 41063244 C T snp UTR3 *23C>T C15orf62 Gm14137 ENSG00000188277 chromosome 15 open reading frame 62 chr15:41062159-41064643 GO:0007266;Rho protein signal transduction;IBA|GO:0008360;regulation of cell shape;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0031274;positive regulation of pseudopodium assembly;IBA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;IBA GO:0005096;GTPase activator activity;IBA|GO:0017049;GTP-Rho binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/C15orf62 http://www.informatics.jax.org/searchtool/Search.do?query=C15orf62&submit=Quick%0D%16000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C15orf62 rs1866170 0.407748 0 0.5137 1 0 0 UTR3 UTR3 UTR3 C15orf62(NM_001130448:c.*23C>T) C15orf62(uc010bby.3:c.*23C>T) ENSG00000188277(ENST00000344320:c.*23C>T) Na Na Na Na Na Na Het;C>T 631;20|24 Het;C>T 271;28|14 Hom;C>T 1049;0|36 N N - 15 41272340 41272341 CG C indel UTR3 *81_*80delinsG INO80 Ino80 ENSG00000128908 INO80 complex subunit chr15:41271078-41408552 This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Bone Density; Occipital Lobe; Tobacco Use Disorder; Hip Embryos homozygous for a knock-out allele die around E7.5 and show absence of anterior and distal visceral endoderm. Another null allele results in embryonic lethality by E13.5-E14.5 with severe growth retardation and developmental defects. Heterozygotes show defects in hindlimb extension reflex. DNA Damage Recognition in GG-NER GO:0000070;mitotic sister chromatid segregation;IMP|GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006310;DNA recombination;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0032508;DNA duplex unwinding;IEA|GO:0034644;cellular response to UV;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0070914;UV-damage excision repair;IMP|GO:0071479;cellular response to ionizing radiation;IMP|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0016604;nuclear body;IDA|GO:0031011;Ino80 complex;IDA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IDA|GO:0003678;DNA helicase activity;IDA|GO:0003779;actin binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0043014;alpha-tubulin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/INO80 https://www.uniprot.org/uniprot/Q9ULG1 https://www.ncbi.nlm.nih.gov/omim/?term=610169 http://www.informatics.jax.org/searchtool/Search.do?query=INO80&submit=Quick%0D%6193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INO80 rs398026985 0.435903 0 0 1 0 0 UTR3 UTR3 UTR3 INO80(NM_017553:c.*81_*80delinsG) INO80(uc021sjj.1:c.*140_*139delinsG,uc001zni.3:c.*81_*80delinsG) ENSG00000128908(ENST00000361937:c.*81_*80delinsG,ENST00000401393:c.*81_*80delinsG,ENST00000558357:c.*1309_*1308delinsG) Na Na Na Na Na Na Het;-G 2315;76|84 Het;-G 2788;70|97 Hom;-G 6145;0|180 N N - 15 41456066 41456070 CAGTT C indel ncRNA_exonic FAM92A1P1 rs138110289 0.460463 0 0 1 0 0 intergenic intergenic ncRNA_exonic INO80(dist=47622),EXD1(dist=18861) INO80(dist=47726),EXD1(dist=18861) ENSG00000157021 Na Na Na Na Na Na Het;-AGTT 2289;45|59 Het;-AGTT 2701;53|69 Hom;-AGTT 4653;2|108 N N - 15 42281719 42281719 G A snp synonymous SNV C1617T G539G aliphatic,neutral aliphatic,neutral PLA2G4E Pla2g4e ENSG00000188089 phospholipase A2 group IVE chr15:42273780-42343388 Sodium; Type 2 Diabetes| edema | rosiglitazone Hydrolysis of LPC GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4E http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4E&submit=Quick%0D%15964ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4E rs1668579 0.423722 0.3709 0.3314 1 0 0 exonic exonic exonic PLA2G4E PLA2G4E ENSG00000188089 synonymous SNV synonymous SNV unknown PLA2G4E:NM_001206670:exon15:c.C1617T:p.G539G, PLA2G4E:uc001zov.2:exon5:c.C489T:p.G163G,PLA2G4E:uc021sjp.1:exon15:c.C1617T:p.G539G, UNKNOWN Het;G>A 1568;58|73 Het;G>A 767;57|42 Hom;G>A 2411;0|92 N N - 15 42954888 42954888 C T snp intronic STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs7166373 0.448482 0 0 1 0 0 intronic intronic intronic STARD9 STARD9 ENSG00000159433 Na Na Na Na Na Na Het;C>T 425;11|13 Het;C>T 290;6|10 Hom;C>T 444;1|14 N N - 15 42955967 42955967 A G snp intronic STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs938047 0.299321 0.2822 0 1 0 0 intronic intronic intronic STARD9 STARD9 ENSG00000159433 Na Na Na Na Na Na Het;A>G 287;15|12 Het;A>G 396;25|20 Hom;A>G 848;0|30 N N - 15 42957373 42957373 C A snp intronic STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs8039765 0.296526 0 0 1 0 0 intronic intronic intronic STARD9 STARD9 ENSG00000159433 Na Na Na Na Na Na Het;C>A 129;5|5 Het;C>A 237;7|8 Hom;C>A 342;0|11 N N - 15 42957532 42957532 T G snp intronic STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs8024902 0.251997 0.2474 0.3007 1 0 0 intronic intronic intronic STARD9 STARD9 ENSG00000159433 Na Na Na Na Na Na Het;T>G 472;28|24 Het;T>G 740;31|33 Hom;T>G 1082;2|42 N N - 15 42977526 42977526 A C snp synonymous SNV A3750C A1250A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs6493059 0.254593 0.2588 0.3008 1 0 0 exonic exonic exonic STARD9 STARD9 ENSG00000159433 synonymous SNV synonymous SNV unknown STARD9:NM_020759:exon23:c.A3750C:p.A1250A, STARD9:uc010udj.2:exon23:c.A3750C:p.A1250A, UNKNOWN Het;A>C 2998;130|127 Het;A>C 1857;93|80 Hom;A>C 5146;0|177 N N - 15 42977676 42977676 G A snp synonymous SNV G3900A Q1300Q polar,hydrophilic,neutral polar,hydrophilic,neutral STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs6493060 0.447684 0.3929 0.3407 1 0 0 exonic exonic exonic STARD9 STARD9 ENSG00000159433 synonymous SNV synonymous SNV unknown STARD9:NM_020759:exon23:c.G3900A:p.Q1300Q, STARD9:uc010udj.2:exon23:c.G3900A:p.Q1300Q, UNKNOWN Het;G>A 1552;64|73 Het;G>A 1250;54|60 Hom;G>A 1980;4|69 N N - 15 42981022 42981022 A G snp nonsynonymous SNV A7246G M2416V hydrophobic,neutral aliphatic,hydrophobic,neutral STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs28744617 0.258586 0.2662 0.3088 0.10 1 10 exonic exonic exonic STARD9 STARD9 ENSG00000159433 nonsynonymous SNV nonsynonymous SNV unknown STARD9:NM_020759:exon23:c.A7246G:p.M2416V, STARD9:uc010udj.2:exon23:c.A7246G:p.M2416V, UNKNOWN Het;A>G 2243;64|95 Het;A>G 1458;64|65 Hom;A>G 4010;0|143 N N - 15 42981806 42981806 G A snp nonsynonymous SNV G8030A R2677H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs8030587 0.446086 0.3924 0.3768 0.09 1 11 exonic exonic exonic STARD9 STARD9 ENSG00000159433 nonsynonymous SNV nonsynonymous SNV unknown STARD9:NM_020759:exon23:c.G8030A:p.R2677H, STARD9:uc010udj.2:exon23:c.G8030A:p.R2677H, UNKNOWN Het;G>A 1199;84|54 Het;G>A 1599;89|73 Hom;G>A 2904;0|103 N N - 15 42982340 42982340 C T snp nonsynonymous SNV C8564T T2855I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs8031218 0.314497 0.2864 0.3019 0.18 2 11 exonic exonic exonic STARD9 STARD9 ENSG00000159433 nonsynonymous SNV nonsynonymous SNV unknown STARD9:NM_020759:exon23:c.C8564T:p.T2855I, STARD9:uc010udj.2:exon23:c.C8564T:p.T2855I, UNKNOWN Het;C>T 1275;75|55 Het;C>T 1049;71|46 Hom;C>T 2604;2|94 N N - 15 42983923 42983923 A G snp nonsynonymous SNV A10147G N3383D polar,hydrophilic,neutral polar,hydrophilic,charged(-) STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs3742993 0.242812 0.2419 0.2910 0.08 1 12 exonic exonic exonic STARD9 STARD9 ENSG00000159433 nonsynonymous SNV nonsynonymous SNV unknown STARD9:NM_020759:exon23:c.A10147G:p.N3383D, STARD9:uc010udj.2:exon23:c.A10147G:p.N3383D, UNKNOWN Het;A>G 2659;132|120 Het;A>G 2328;124|107 Hom;A>G 5938;1|217 N N - 15 43010435 43010435 T C snp intronic STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs67470909 0.0335463 0 0 1 0 0 intronic intronic intronic STARD9 STARD9 ENSG00000159433 Na Na Na Na Na Na Het;T>C 870;28|36 Het;T>C 733;33|34 Hom;T>C 1720;0|59 N N - 15 43011537 43011537 G T snp intronic STARD9 Stard9 ENSG00000159433 StAR related lipid transfer domain containing 9 chr15:42867857-43013179 Stroke; Type 2 Diabetes| edema | rosiglitazone; Thyroxine GO:0007018;microtubule-based movement;IEA|GO:0008152;metabolic process;IDA|GO:0051225;spindle assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/STARD9 https://www.ncbi.nlm.nih.gov/omim/?term=614642 http://www.informatics.jax.org/searchtool/Search.do?query=STARD9&submit=Quick%0D%10338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD9 rs9919994 0.312899 0 0 1 0 0 intronic intronic intronic STARD9 STARD9 ENSG00000159433 Na Na Na Na Na Na Het;G>T 31;3|2 Het;G>T 47;1|3 Hom;G>T 123;0|4 N N - 15 43016475 43016475 A G snp UTR3 *800T>C CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs3742988 0.451877 0 0 1 0 0 UTR3 UTR3 UTR3 CDAN1(NM_138477:c.*214T>C) CDAN1(uc001zqk.3:c.*214T>C,uc001zql.3:c.*214T>C) ENSG00000140326(ENST00000562465:c.*800T>C,ENST00000356231:c.*214T>C) Na Na Na Na Na Na Het;A>G 931;38|39 Het;A>G 687;30|28 Hom;A>G 1478;0|50 N N - 15 43016547 43016547 T C snp UTR3 *728A>G CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs3742987 0.461861 0 0 1 0 0 UTR3 UTR3 UTR3 CDAN1(NM_138477:c.*142A>G) CDAN1(uc001zqk.3:c.*142A>G,uc001zql.3:c.*142A>G) ENSG00000140326(ENST00000562465:c.*728A>G,ENST00000356231:c.*142A>G) Na Na Na Na Na Na Het;T>C 1234;50|55 Het;T>C 882;58|40 Hom;T>C 2277;0|84 N N - 15 43017426 43017426 T G snp synonymous SNV A3474C L1158L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs16957091 0.461462 0.4303 0.3038 1 0 0 exonic exonic exonic CDAN1 CDAN1 ENSG00000140326 synonymous SNV synonymous SNV unknown CDAN1:NM_138477:exon27:c.A3474C:p.L1158L, CDAN1:uc001zqk.3:exon21:c.A1452C:p.L484L,CDAN1:uc001zql.3:exon27:c.A3474C:p.L1158L, UNKNOWN Het;T>G 1847;98|83 Het;T>G 1790;69|81 Hom;T>G 4218;0|160 N N - 15 43017919 43017919 G A snp intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs6493062 0.371805 0.3413 0.2564 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;G>A 446;20|17 Ref Hom;G>A 1456;0|44 N N - 15 43018486 43018486 G A snp intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs2305085 0.249601 0.2546 0.2852 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;G>A 1145;55|47 Het;G>A 1223;45|48 Hom;G>A 2487;0|88 N N - 15 43018691 43018691 T G snp intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs2305084 0.277955 0 0 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;T>G 1546;56|67 Het;T>G 1327;57|55 Hom;T>G 2549;0|92 N N - 15 43020983 43020983 G A snp nonsynonymous SNV C649T R217C polar,hydrophilic,charged(+) polar,hydrophobic,neutral CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs8023524 0.262979 0.2696 0.2158 0.54 7 13 exonic exonic exonic CDAN1 CDAN1 ENSG00000140326 nonsynonymous SNV nonsynonymous SNV unknown CDAN1:NM_138477:exon20:c.C2671T:p.R891C, CDAN1:uc001zqk.3:exon14:c.C649T:p.R217C,CDAN1:uc001zql.3:exon20:c.C2671T:p.R891C, UNKNOWN Het;G>A 1300;73|59 Het;G>A 1145;58|51 Hom;G>A 2981;0|109 N N - 15 43021628 43021628 C T snp intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs16957104 0.453474 0 0 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;C>T 807;33|33 Het;C>T 459;35|23 Hom;C>T 1015;0|31 N N - 15 43022690 43022690 C A snp intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs7174041 0.44988 0 0 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;C>A 474;17|18 Het;C>A 385;16|15 Hom;C>A 500;0|18 N N - 15 43023482 43023482 T C snp nonsynonymous SNV A1787G Q596R polar,hydrophilic,neutral polar,hydrophilic,charged(+) CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs12917189 0.453674 0.4163 0.2933 0.31 4 13 exonic exonic exonic CDAN1 CDAN1 ENSG00000140326 nonsynonymous SNV nonsynonymous SNV unknown CDAN1:NM_138477:exon12:c.A1787G:p.Q596R, CDAN1:uc001zql.3:exon12:c.A1787G:p.Q596R, UNKNOWN Het;T>C 1069;54|44 Het;T>C 1142;40|57 Hom;T>C 2077;4|82 N N - 15 43024063 43024063 C T snp intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs12917018 0.461262 0.4259 0.3014 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;C>T 575;18|21 Het;C>T 281;15|14 Hom;C>T 616;0|20 N N - 15 43025209 43025209 A AG indel intronic CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs11448523 0.459864 0 0 1 0 0 intronic intronic intronic CDAN1 CDAN1 ENSG00000140326 Na Na Na Na Na Na Het;+G 130;4|5 Het;+G 102;2|3 Hom;+G 569;0|15 N N - 15 43028592 43028592 G A snp synonymous SNV C477T P159P hydrophobic,neutral hydrophobic,neutral CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs7167392 0.260583 0.2687 0.2472 1 0 0 exonic exonic exonic CDAN1 CDAN1 ENSG00000140326 synonymous SNV synonymous SNV unknown CDAN1:NM_138477:exon2:c.C477T:p.P159P, CDAN1:uc001zql.3:exon2:c.C477T:p.P159P, UNKNOWN Het;G>A 1637;65|79 Het;G>A 1317;76|61 Hom;G>A 4380;2|164 N N - 15 43028749 43028749 T A snp nonsynonymous SNV A320T Q107L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CDAN1 Cdan1 ENSG00000140326 codanin 1 chr15:43015757-43029324 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] Stroke; protein quantitative trait loci Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. GO:0006325;chromatin organization;IMP|GO:0008104;protein localization;IMP|GO:0008156;negative regulation of DNA replication;IMP|GO:0031497;chromatin assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDAN1 https://www.uniprot.org/uniprot/Q8IWY9 https://hpo.jax.org/app/browse/search?q=CDAN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607465 http://www.informatics.jax.org/searchtool/Search.do?query=CDAN1&submit=Quick%0D%8004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDAN1 rs4265781 0.460663 0 0.4132 0.15 2 13 exonic exonic exonic CDAN1 CDAN1 ENSG00000140326 nonsynonymous SNV nonsynonymous SNV unknown CDAN1:NM_138477:exon2:c.A320T:p.Q107L, CDAN1:uc001zql.3:exon2:c.A320T:p.Q107L, UNKNOWN Het;T>A 355;11|14 Het;T>A 545;15|21 Hom;T>A 941;0|28 N N - 15 43109140 43109141 AT A indel intronic TTBK2 Ttbk2 ENSG00000128881 tau tubulin kinase 2 chr15:43030932-43213007 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] Spinocerebellar Ataxias; Tobacco Use Disorder; null Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. Anchoring of the basal body to the plasma membrane GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0008360;regulation of cell shape;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTBK2 https://www.uniprot.org/uniprot/Q6IQ55 https://hpo.jax.org/app/browse/search?q=TTBK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611695 http://www.informatics.jax.org/searchtool/Search.do?query=TTBK2&submit=Quick%0D%6190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTBK2 rs66534174 0.0992412 0 0 1 0 0 intronic intronic intronic TTBK2 TTBK2 ENSG00000128881 Na Na Na Na Na Na Het;-T 420;13|13 Het;-T 99;5|4 Hom;-T 553;0|14 N N - 15 43109142 43109143 AT A indel intronic TTBK2 Ttbk2 ENSG00000128881 tau tubulin kinase 2 chr15:43030932-43213007 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] Spinocerebellar Ataxias; Tobacco Use Disorder; null Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. Anchoring of the basal body to the plasma membrane GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0008360;regulation of cell shape;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTBK2 https://www.uniprot.org/uniprot/Q6IQ55 https://hpo.jax.org/app/browse/search?q=TTBK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611695 http://www.informatics.jax.org/searchtool/Search.do?query=TTBK2&submit=Quick%0D%6190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTBK2 rs66947001 0.0992412 0 0 1 0 0 intronic intronic intronic TTBK2 TTBK2 ENSG00000128881 Na Na Na Na Na Na Het;-T 420;13|13 Het;-T 99;7|4 Hom;-T 553;0|14 N N - 15 43109385 43109385 C T snp intronic TTBK2 Ttbk2 ENSG00000128881 tau tubulin kinase 2 chr15:43030932-43213007 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] Spinocerebellar Ataxias; Tobacco Use Disorder; null Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. Anchoring of the basal body to the plasma membrane GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0008360;regulation of cell shape;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTBK2 https://www.uniprot.org/uniprot/Q6IQ55 https://hpo.jax.org/app/browse/search?q=TTBK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611695 http://www.informatics.jax.org/searchtool/Search.do?query=TTBK2&submit=Quick%0D%6190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTBK2 rs7182753 0.520367 0 0 1 0 0 intronic intronic intronic TTBK2 TTBK2 ENSG00000128881 Na Na Na Na Na Na Het;C>T 503;15|18 Het;C>T 524;16|19 Hom;C>T 593;0|18 N N - 15 43170690 43170690 T TAC indel intronic TTBK2 Ttbk2 ENSG00000128881 tau tubulin kinase 2 chr15:43030932-43213007 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] Spinocerebellar Ataxias; Tobacco Use Disorder; null Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. Anchoring of the basal body to the plasma membrane GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0008360;regulation of cell shape;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTBK2 https://www.uniprot.org/uniprot/Q6IQ55 https://hpo.jax.org/app/browse/search?q=TTBK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611695 http://www.informatics.jax.org/searchtool/Search.do?query=TTBK2&submit=Quick%0D%6190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTBK2 rs10650948 0 0 0 1 0 0 intronic intronic intronic TTBK2 TTBK2 ENSG00000128881 Na Na Na Na Na Na Het;+AC 873;11|38 Het;+AC 442;15|21 Hom;+AC 417;2|17 N N - 15 43170793 43170793 A G snp nonsynonymous SNV T23C L8P aliphatic,hydrophobic,neutral hydrophobic,neutral TTBK2 Ttbk2 ENSG00000128881 tau tubulin kinase 2 chr15:43030932-43213007 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] Spinocerebellar Ataxias; Tobacco Use Disorder; null Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. Anchoring of the basal body to the plasma membrane GO:0006468;protein phosphorylation;IEA|GO:0007224;smoothened signaling pathway;ISS|GO:0008360;regulation of cell shape;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005929;cilium;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0045095;keratin filament;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTBK2 https://www.uniprot.org/uniprot/Q6IQ55 https://hpo.jax.org/app/browse/search?q=TTBK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611695 http://www.informatics.jax.org/searchtool/Search.do?query=TTBK2&submit=Quick%0D%6190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTBK2 rs6493068 0.514776 0.4694 0.3784 0.25 3 12 exonic exonic exonic TTBK2 TTBK2 ENSG00000128881 nonsynonymous SNV nonsynonymous SNV unknown TTBK2:NM_173500:exon2:c.T23C:p.L8P, TTBK2:uc001zqo.2:exon2:c.T23C:p.L8P,TTBK2:uc001zqp.3:exon2:c.T23C:p.L8P, UNKNOWN Het;A>G 990;84|50 Het;A>G 893;56|45 Hom;A>G 2616;0|104 N N - 15 43252764 43252764 A G snp intronic UBR1 Ubr1 ENSG00000159459 ubiquitin protein ligase E3 component n-recognin 1 chr15:43235095-43398311 The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008] diabetes, type 2 Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. Antigen processing: Ubiquitination & Proteasome degradation GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA GO:0000151;ubiquitin ligase complex;IEA|GO:0000502;proteasome complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBR1 https://hpo.jax.org/app/browse/search?q=UBR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605981 http://www.informatics.jax.org/searchtool/Search.do?query=UBR1&submit=Quick%0D%10342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR1 rs3759792 0.255391 0 0 1 0 0 intronic intronic intronic UBR1 UBR1 ENSG00000159459 Na Na Na Na Na Na Het;A>G 267;3|9 Het;A>G 190;6|7 Hom;A>G 446;0|13 N N - 15 43256191 43256191 T C snp nonsynonymous SNV A4642G T1548A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral UBR1 Ubr1 ENSG00000159459 ubiquitin protein ligase E3 component n-recognin 1 chr15:43235095-43398311 The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008] diabetes, type 2 Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. Antigen processing: Ubiquitination & Proteasome degradation GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IEA|GO:0032007;negative regulation of TOR signaling;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071596;ubiquitin-dependent protein catabolic process via the N-end rule pathway;IBA GO:0000151;ubiquitin ligase complex;IEA|GO:0000502;proteasome complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0070728;leucine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBR1 https://hpo.jax.org/app/browse/search?q=UBR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605981 http://www.informatics.jax.org/searchtool/Search.do?query=UBR1&submit=Quick%0D%10342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBR1 rs3917223 0.033147 0.0542 0.0638 0.46 6 13 exonic exonic exonic UBR1 UBR1 ENSG00000159459 nonsynonymous SNV nonsynonymous SNV unknown UBR1:NM_174916:exon42:c.A4642G:p.T1548A, UBR1:uc001zqq.3:exon42:c.A4642G:p.T1548A, UNKNOWN Het;T>C 783;37|37 Het;T>C 646;24|29 Hom;T>C 2003;0|74 N N - 15 43545314 43545314 C T snp intronic TGM5 Tgm5 ENSG00000104055 transglutaminase 5 chr15:43524793-43559055 This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009] Lung Neoplasms; Iron; lung cancer Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. Formation of the cornified envelope GO:0006464;cellular protein modification process;TAS|GO:0008544;epidermis development;TAS|GO:0018149;peptide cross-linking;IEA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS GO:0003810;protein-glutamine gamma-glutamyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM5 https://www.uniprot.org/uniprot/O43548 https://hpo.jax.org/app/browse/search?q=TGM5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603805 http://www.informatics.jax.org/searchtool/Search.do?query=TGM5&submit=Quick%0D%3072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM5 rs530188 0.534944 0 0 1 0 0 intronic intronic intronic TGM5 TGM5 ENSG00000104055 Na Na Na Na Na Na Het;C>T 245;4|8 Het;C>T 214;2|7 Hom;C>T 181;0|6 N N - 15 43545728 43545728 G A snp synonymous SNV C660T Y220Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic TGM5 Tgm5 ENSG00000104055 transglutaminase 5 chr15:43524793-43559055 This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009] Lung Neoplasms; Iron; lung cancer Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. Formation of the cornified envelope GO:0006464;cellular protein modification process;TAS|GO:0008544;epidermis development;TAS|GO:0018149;peptide cross-linking;IEA|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS GO:0003810;protein-glutamine gamma-glutamyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM5 https://www.uniprot.org/uniprot/O43548 https://hpo.jax.org/app/browse/search?q=TGM5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603805 http://www.informatics.jax.org/searchtool/Search.do?query=TGM5&submit=Quick%0D%3072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM5 rs555001 0.476837 0.4370 0.3695 1 0 0 exonic exonic exonic TGM5 TGM5 ENSG00000104055 synonymous SNV synonymous SNV unknown TGM5:NM_201631:exon5:c.C660T:p.Y220Y,TGM5:NM_004245:exon4:c.C414T:p.Y138Y, TGM5:uc001zre.2:exon4:c.C414T:p.Y138Y,TGM5:uc001zrd.2:exon5:c.C660T:p.Y220Y, UNKNOWN Het;G>A 2572;127|119 Het;G>A 2228;135|112 Hom;G>A 6662;3|246 N N - 15 43559231 43559231 T C snp upstream;downstream ENSG00000104055 rs748404 0.152356 0 0 1 0 0 upstream upstream upstream;downstream TGM5 TGM5 ENSG00000104055;ENSG00000261679 Na Na Na Na Na Na Het;T>C 167;3|6 Het;T>C 64;3|3 Hom;T>C 82;0|3 N N - 15 43560607 43560607 A G snp upstream AC009852.2 rs531910 0.47504 0 0 1 0 0 intergenic intergenic upstream TGM5(dist=1552),TGM7(dist=7872) TGM5(dist=1552),TGM7(dist=7872) ENSG00000261679 Na Na Na Na Na Na Het;A>G 80;6|5 Het;A>G 198;2|8 Hom;A>G 367;0|14 N N - 15 43571390 43571390 C G snp synonymous SNV G1764C A588A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TGM7 Tgm7 ENSG00000159495 transglutaminase 7 chr15:43568478-43594453 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] GO:0018149;peptide cross-linking;IEA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM7 https://www.ncbi.nlm.nih.gov/omim/?term=606776 http://www.informatics.jax.org/searchtool/Search.do?query=TGM7&submit=Quick%0D%10345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM7 rs567357 0.533546 0.5041 0.3877 1 0 0 exonic exonic exonic TGM7 TGM7 ENSG00000159495 synonymous SNV synonymous SNV unknown TGM7:NM_052955:exon11:c.G1764C:p.A588A, TGM7:uc001zrf.1:exon11:c.G1764C:p.A588A, UNKNOWN Het;C>G 710;19|31 Het;C>G 287;17|15 Hom;C>G 1024;0|39 N N - 15 43579566 43579566 A G snp synonymous SNV T777C S259S polar,hydrophilic,neutral polar,hydrophilic,neutral TGM7 Tgm7 ENSG00000159495 transglutaminase 7 chr15:43568478-43594453 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] GO:0018149;peptide cross-linking;IEA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM7 https://www.ncbi.nlm.nih.gov/omim/?term=606776 http://www.informatics.jax.org/searchtool/Search.do?query=TGM7&submit=Quick%0D%10345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM7 rs513970 0.534944 0.5046 0.3917 1 0 0 exonic exonic exonic TGM7 TGM7 ENSG00000159495 synonymous SNV synonymous SNV unknown TGM7:NM_052955:exon6:c.T777C:p.S259S, TGM7:uc001zrf.1:exon6:c.T777C:p.S259S, UNKNOWN Het;A>G 1847;70|80 Het;A>G 1688;89|80 Hom;A>G 5230;0|189 N N - 15 43585520 43585520 T C snp intronic TGM7 Tgm7 ENSG00000159495 transglutaminase 7 chr15:43568478-43594453 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] GO:0018149;peptide cross-linking;IEA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM7 https://www.ncbi.nlm.nih.gov/omim/?term=606776 http://www.informatics.jax.org/searchtool/Search.do?query=TGM7&submit=Quick%0D%10345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM7 rs538238 0.55651 0 0 1 0 0 intronic intronic intronic TGM7 TGM7 ENSG00000159495 Na Na Na Na Na Na Het;T>C 118;4|4 Ref Hom;T>C 188;0|6 N N - 15 43632549 43632549 T C snp synonymous SNV T342C T114T polar,hydrophilic,neutral polar,hydrophilic,neutral ADAL Adal ENSG00000168803 adenosine deaminase like chr15:43622872-43646096 Purine salvage GO:0009117;nucleotide metabolic process;IEA|GO:0017144;drug metabolic process;TAS|GO:0043101;purine-containing compound salvage;TAS GO:0005829;cytosol;TAS GO:0004000;adenosine deaminase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAL http://www.informatics.jax.org/searchtool/Search.do?query=ADAL&submit=Quick%0D%12346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAL rs2278857 0.539137 0.4834 0.3832 1 0 0 exonic exonic exonic ADAL ADAL ENSG00000168803 synonymous SNV synonymous SNV unknown ADAL:NM_001012969:exon6:c.T342C:p.T114T,ADAL:NM_001159280:exon7:c.T342C:p.T114T, ADAL:uc010udo.2:exon7:c.T342C:p.T114T,ADAL:uc001zrh.3:exon6:c.T342C:p.T114T, UNKNOWN Het;T>C 1041;26|50 Het;T>C 1022;52|52 Hom;T>C 2703;0|104 N N - 15 43637985 43637985 T C snp intronic ADAL Adal ENSG00000168803 adenosine deaminase like chr15:43622872-43646096 Purine salvage GO:0009117;nucleotide metabolic process;IEA|GO:0017144;drug metabolic process;TAS|GO:0043101;purine-containing compound salvage;TAS GO:0005829;cytosol;TAS GO:0004000;adenosine deaminase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAL http://www.informatics.jax.org/searchtool/Search.do?query=ADAL&submit=Quick%0D%12346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAL rs6493083 0.547125 0 0 1 0 0 intronic intronic intronic ADAL ADAL ENSG00000168803 Na Na Na Na Na Na Het;T>C 283;9|12 Het;T>C 180;8|7 Hom;T>C 532;0|17 N N - 15 43643901 43643901 A G snp UTR3 *644A>G ADAL Adal ENSG00000168803 adenosine deaminase like chr15:43622872-43646096 Purine salvage GO:0009117;nucleotide metabolic process;IEA|GO:0017144;drug metabolic process;TAS|GO:0043101;purine-containing compound salvage;TAS GO:0005829;cytosol;TAS GO:0004000;adenosine deaminase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAL http://www.informatics.jax.org/searchtool/Search.do?query=ADAL&submit=Quick%0D%12346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAL rs7181634 0.136781 0 0.1952 1 0 0 intronic intronic UTR3 ADAL ADAL ENSG00000168803(ENST00000566154:c.*644A>G) Na Na Na Na Na Na Het;A>G 223;11|8 Het;A>G 67;7|4 Hom;A>G 320;0|10 N N - 15 43653322 43653322 G A snp synonymous SNV C2508T H836H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ZSCAN29 Zscan29 ENSG00000140265 zinc finger and SCAN domain containing 29 chr15:43650370-43663223 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29 https://www.uniprot.org/uniprot/Q8IWY8 http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29 rs35278805 0.136781 0.1898 0.1663 1 0 0 exonic exonic exonic ZSCAN29 ZSCAN29 ENSG00000140265 synonymous SNV synonymous SNV unknown ZSCAN29:NM_152455:exon5:c.C2508T:p.H836H, ZSCAN29:uc010bdg.1:exon3:c.C1338T:p.H446H,ZSCAN29:uc001zrj.1:exon4:c.C2148T:p.H716H,ZSCAN29:uc001zrk.1:exon5:c.C2508T:p.H836H, UNKNOWN Het;G>A 744;35|33 Het;G>A 386;30|18 Hom;G>A 1662;2|62 N N - 15 43658935 43658935 C T snp nonsynonymous SNV G592A G198S aliphatic,neutral polar,hydrophilic,neutral ZSCAN29 Zscan29 ENSG00000140265 zinc finger and SCAN domain containing 29 chr15:43650370-43663223 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29 https://www.uniprot.org/uniprot/Q8IWY8 http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29 rs3917221 0.134984 0.1898 0.1650 0.15 2 13 exonic exonic exonic ZSCAN29 ZSCAN29 ENSG00000140265 nonsynonymous SNV nonsynonymous SNV unknown ZSCAN29:NM_152455:exon3:c.G595A:p.G199S, ZSCAN29:uc001zrm.3:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrj.1:exon2:c.G235A:p.G79S,ZSCAN29:uc010bdf.1:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrk.1:exon3:c.G595A:p.G199S, UNKNOWN Het;C>T 1740;79|75 Het;C>T 1032;53|49 Hom;C>T 3781;0|138 N N - 15 43661802 43661802 T C snp nonsynonymous SNV A307G R103G polar,hydrophilic,charged(+) aliphatic,neutral ZSCAN29 Zscan29 ENSG00000140265 zinc finger and SCAN domain containing 29 chr15:43650370-43663223 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29 https://www.uniprot.org/uniprot/Q8IWY8 http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29 rs3809482 0.545927 0.4898 0.3821 0.15 2 13 exonic exonic exonic ZSCAN29 ZSCAN29 ENSG00000140265 nonsynonymous SNV nonsynonymous SNV unknown ZSCAN29:NM_152455:exon1:c.A310G:p.R104G, ZSCAN29:uc001zrm.3:exon1:c.A307G:p.R103G,ZSCAN29:uc010bdg.1:exon1:c.A307G:p.R103G,ZSCAN29:uc010bdf.1:exon1:c.A307G:p.R103G,ZSCAN29:uc001zrk.1:exon1:c.A310G:p.R104G, UNKNOWN Het;T>C 631;20|27 Het;T>C 389;28|20 Hom;T>C 1458;1|52 N N - 15 43678543 43678543 G A snp ncRNA_intronic RNU6-28P rs4608311 0 0.0276 0.3822 1 0 0 ncRNA_intronic intronic intronic RNU6-28P TUBGCP4 ENSG00000137822 Na Na Na Na Na Na Het;G>A 401;20|3 Het;G>A 160;26|10 Hom;G>A 613;0|23 N N - 15 43701946 43701947 TA T indel ncRNA_intronic RNU6-28P rs397711844 0.2502 0 0.3694 1 0 0 ncRNA_intronic intronic intronic RNU6-28P TP53BP1 ENSG00000067369 Na Na Na Na Na Na Het;-A 274;16|16 Het;-A 267;19|16 Hom;-A 1104;3|50 N N - 15 43707808 43707808 A T snp synonymous SNV T5073A S1691S polar,hydrophilic,neutral polar,hydrophilic,neutral TP53BP1 Trp53bp1 ENSG00000067369 tumor protein p53 binding protein 1 chr15:43699407-43802926 Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1 https://www.uniprot.org/uniprot/Q12888 https://www.ncbi.nlm.nih.gov/omim/?term=605230 http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1 rs2230451 0.128594 0.1829 0.1634 1 0 0 exonic exonic exonic TP53BP1 TP53BP1 ENSG00000067369 synonymous SNV synonymous SNV unknown TP53BP1:NM_001141979:exon23:c.T5073A:p.S1691S,TP53BP1:NM_001141980:exon23:c.T5073A:p.S1691S,TP53BP1:NM_005657:exon23:c.T5058A:p.S1686S, TP53BP1:uc010udq.1:exon23:c.T5073A:p.S1691S,TP53BP1:uc001zrr.4:exon23:c.T5073A:p.S1691S,TP53BP1:uc001zrp.3:exon2:c.T309A:p.S103S,TP53BP1:uc001zrq.4:exon23:c.T5073A:p.S1691S,TP53BP1:uc001zrs.3:exon23:c.T5058A:p.S1686S,TP53BP1:uc010udp.2:exon22:c.T5058A:p.S1686S, UNKNOWN Het;A>T 895;40|39 Het;A>T 661;40|28 Hom;A>T 1600;2|55 N N - 15 43720533 43720533 G C snp ncRNA_intronic RNU6-28P rs2249952 0.525759 0 0 1 0 0 ncRNA_intronic intronic intronic RNU6-28P TP53BP1 ENSG00000067369 Na Na Na Na Na Na Het;G>C 169;3|6 Het;G>C 124;6|5 Hom;G>C 304;0|8 N N - 15 43724646 43724646 T G snp nonsynonymous SNV A3421C K1141Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral TP53BP1 Trp53bp1 ENSG00000067369 tumor protein p53 binding protein 1 chr15:43699407-43802926 Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1 https://www.uniprot.org/uniprot/Q12888 https://www.ncbi.nlm.nih.gov/omim/?term=605230 http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1 rs2602141 0.526358 0.4836 0.3750 0.23 3 13 exonic exonic exonic TP53BP1 TP53BP1 ENSG00000067369 nonsynonymous SNV nonsynonymous SNV unknown TP53BP1:NM_001141979:exon17:c.A3421C:p.K1141Q,TP53BP1:NM_001141980:exon17:c.A3421C:p.K1141Q,TP53BP1:NM_005657:exon17:c.A3406C:p.K1136Q, TP53BP1:uc010udq.1:exon17:c.A3421C:p.K1141Q,TP53BP1:uc001zrr.4:exon17:c.A3421C:p.K1141Q,TP53BP1:uc001zrq.4:exon17:c.A3421C:p.K1141Q,TP53BP1:uc001zrs.3:exon17:c.A3406C:p.K1136Q,TP53BP1:uc010udp.2:exon16:c.A3406C:p.K1136Q, UNKNOWN Het;T>G 1886;62|75 Het;T>G 2404;81|100 Hom;T>G 5313;0|182 N N - 15 43730486 43730486 A G snp ncRNA_intronic RNU6-28P rs16957730 0.136781 0.1926 0.1665 1 0 0 ncRNA_intronic intronic intronic RNU6-28P TP53BP1 ENSG00000067369 Na Na Na Na Na Na Het;A>G 391;34|19 Het;A>G 724;23|28 Hom;A>G 1822;0|68 N N - 15 43748304 43748304 A G snp synonymous SNV T2502C D834D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) TP53BP1 Trp53bp1 ENSG00000067369 tumor protein p53 binding protein 1 chr15:43699407-43802926 Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1 https://www.uniprot.org/uniprot/Q12888 https://www.ncbi.nlm.nih.gov/omim/?term=605230 http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1 rs690367 0.526158 0.4882 0.3739 1 0 0 exonic exonic exonic TP53BP1 TP53BP1 ENSG00000067369 synonymous SNV synonymous SNV unknown TP53BP1:NM_001141979:exon12:c.T2502C:p.D834D,TP53BP1:NM_001141980:exon12:c.T2502C:p.D834D,TP53BP1:NM_005657:exon12:c.T2487C:p.D829D, TP53BP1:uc010udq.1:exon12:c.T2502C:p.D834D,TP53BP1:uc001zrr.4:exon12:c.T2502C:p.D834D,TP53BP1:uc001zrq.4:exon12:c.T2502C:p.D834D,TP53BP1:uc001zrs.3:exon12:c.T2487C:p.D829D,TP53BP1:uc010udp.2:exon11:c.T2487C:p.D829D, UNKNOWN Het;A>G 1696;85|70 Het;A>G 1384;74|61 Hom;A>G 3892;0|139 N N - 15 43767774 43767774 G C snp nonsynonymous SNV C1074G D358E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) TP53BP1 Trp53bp1 ENSG00000067369 tumor protein p53 binding protein 1 chr15:43699407-43802926 Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; lung cancer ; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; lung cancer; Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Colorectal Neoplasms; Attention Deficit Disorder with Hyperactivity; breast cancer; Leukemia, Lymphocytic, Chronic, B-Cell; esophageal adenocarcinoma Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;IBA|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016925;protein sumoylation;TAS|GO:0045830;positive regulation of isotype switching;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IC|GO:0051260;protein homooligomerization;IDA|GO:0071481;cellular response to X-ray;IEA|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0035861;site of double-strand break;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001104;RNA polymerase II transcription cofactor activity;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0061649;ubiquitinated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TP53BP1 https://www.uniprot.org/uniprot/Q12888 https://www.ncbi.nlm.nih.gov/omim/?term=605230 http://www.informatics.jax.org/searchtool/Search.do?query=TP53BP1&submit=Quick%0D%1254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53BP1 rs560191 0.525759 0.4881 0.3737 0.08 1 13 exonic exonic exonic TP53BP1 TP53BP1 ENSG00000067369 nonsynonymous SNV nonsynonymous SNV unknown TP53BP1:NM_001141979:exon9:c.C1074G:p.D358E,TP53BP1:NM_001141980:exon9:c.C1074G:p.D358E,TP53BP1:NM_005657:exon9:c.C1059G:p.D353E, TP53BP1:uc010udq.1:exon9:c.C1074G:p.D358E,TP53BP1:uc001zrr.4:exon9:c.C1074G:p.D358E,TP53BP1:uc001zrq.4:exon9:c.C1074G:p.D358E,TP53BP1:uc001zrs.3:exon9:c.C1059G:p.D353E,TP53BP1:uc010udp.2:exon8:c.C1059G:p.D353E, UNKNOWN Het;G>C 665;43|31 Het;G>C 1077;37|48 Hom;G>C 2428;0|91 N N - 15 43773036 43773036 A C snp ncRNA_intronic RNU6-28P rs7173383 0.136781 0 0 1 0 0 ncRNA_intronic intronic intronic RNU6-28P TP53BP1 ENSG00000067369 Na Na Na Na Na Na Het;A>C 409;31|23 Het;A>C 168;17|9 Hom;A>C 1086;0|40 N N - 15 43815999 43815999 C T snp synonymous SNV C2328T P776P hydrophobic,neutral hydrophobic,neutral MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs3862138 0.13119 0.1809 0.1651 1 0 0 exonic exonic exonic MAP1A MAP1A ENSG00000166963 synonymous SNV synonymous SNV unknown MAP1A:NM_002373:exon4:c.C2328T:p.P776P, MAP1A:uc001zrt.3:exon4:c.C2328T:p.P776P, UNKNOWN Het;C>T 1127;48|45 Het;C>T 1211;61|54 Hom;C>T 1974;0|70 N N - 15 43816917 43816917 G A snp synonymous SNV G3246A G1082G aliphatic,neutral aliphatic,neutral MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs1060939 0.528754 0.4643 0.3671 1 0 0 exonic exonic exonic MAP1A MAP1A ENSG00000166963 synonymous SNV synonymous SNV unknown MAP1A:NM_002373:exon4:c.G3246A:p.G1082G, MAP1A:uc001zrt.3:exon4:c.G3246A:p.G1082G, UNKNOWN Het;G>A 1553;56|65 Het;G>A 1249;36|51 Hom;G>A 2712;0|93 N N - 15 43817404 43817404 G A snp nonsynonymous SNV G3733A D1245N polar,hydrophilic,charged(-) polar,hydrophilic,neutral MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs12912505 0.103834 0.1513 0.1566 0.58 7 12 exonic exonic exonic MAP1A MAP1A ENSG00000166963 nonsynonymous SNV nonsynonymous SNV unknown MAP1A:NM_002373:exon4:c.G3733A:p.D1245N, MAP1A:uc001zrt.3:exon4:c.G3733A:p.D1245N, UNKNOWN Het;G>A 4332;86|109 Het;G>A 3616;92|94 Hom;G>A 5931;0|134 N N - 15 43817406 43817406 T C snp synonymous SNV T3735C D1245D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs480108 0.528954 0.4749 0.3672 1 0 0 exonic exonic exonic MAP1A MAP1A ENSG00000166963 synonymous SNV synonymous SNV unknown MAP1A:NM_002373:exon4:c.T3735C:p.D1245D, MAP1A:uc001zrt.3:exon4:c.T3735C:p.D1245D, UNKNOWN Het;T>C 4332;86|111 Het;T>C 3616;97|93 Hom;T>C 5931;0|131 N N - 15 43818079 43818079 G A snp nonsynonymous SNV G4408A A1470T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs62020612 0.13778 0.1892 0.1668 0.08 1 12 exonic exonic exonic MAP1A MAP1A ENSG00000166963 nonsynonymous SNV nonsynonymous SNV unknown MAP1A:NM_002373:exon4:c.G4408A:p.A1470T, MAP1A:uc001zrt.3:exon4:c.G4408A:p.A1470T, UNKNOWN Het;G>A 1144;85|52 Het;G>A 1123;79|49 Hom;G>A 3022;0|109 N N - 15 43824030 43824030 A G snp downstream MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs570933 0.508786 0 0 1 0 0 ncRNA_intronic downstream downstream RNU6-28P MAP1A ENSG00000166963 Na Na Na Na Na Na Het;A>G 50;1|3 Ref Hom;A>G 71;0|4 N N - 15 43900153 43900153 C T snp synonymous SNV G3702A E1234E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) STRC Strc ENSG00000242866 stereocilin chr15:43891596-44010458 This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008] SPERMATOGENIC FAILURE 7 Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology. GO:0007160;cell-matrix adhesion;IBA|GO:0007605;sensory perception of sound;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0032420;stereocilium;IEA|GO:0032426;stereocilium tip;IEA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA http://www.genecards.org/index.php?path=/Search/keyword/STRC https://hpo.jax.org/app/browse/search?q=STRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606440 http://www.informatics.jax.org/searchtool/Search.do?query=STRC&submit=Quick%0D%19747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STRC rs62018890 0.128395 0.1743 0.1492 1 0 0 exonic exonic exonic STRC STRC ENSG00000242866 synonymous SNV synonymous SNV unknown STRC:NM_153700:exon18:c.G3702A:p.E1234E, STRC:uc001zsf.3:exon18:c.G3702A:p.E1234E,STRC:uc010bdl.3:exon17:c.G1383A:p.E461E, UNKNOWN Het;C>T 429;23|22 Het;C>T 234;26|13 Hom;C>T 745;0|28 N N - 15 43924608 43924608 T C snp intronic CATSPER2 Catsper2 ENSG00000166762 cation channel sperm associated 2 chr15:43920701-43960316 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] Tobacco Use Disorder Homozygous null male mice are infertile due to a sperm motility defect. Sperm Motility And Taxes GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0019228;neuronal action potential;IBA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;ISS|GO:0042995;cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CATSPER2 https://hpo.jax.org/app/browse/search?q=CATSPER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607249 http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER2&submit=Quick%0D%11858ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER2 rs56226333 0.11242 0.1555 0.1444 1 0 0 intronic intronic intronic CATSPER2 CATSPER2 ENSG00000166762,ENSG00000242866 Na Na Na Na Na Na Het;T>C 748;80|36 Het;T>C 954;85|41 Hom;T>C 1969;2|71 N N - 15 43931732 43931732 G A snp UTR3 *751C>T CATSPER2 Catsper2 ENSG00000166762 cation channel sperm associated 2 chr15:43920701-43960316 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] Tobacco Use Disorder Homozygous null male mice are infertile due to a sperm motility defect. Sperm Motility And Taxes GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0019228;neuronal action potential;IBA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0032570;response to progesterone;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035036;sperm-egg recognition;TAS|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0036128;CatSper complex;ISS|GO:0042995;cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005227;calcium activated cation channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CATSPER2 https://hpo.jax.org/app/browse/search?q=CATSPER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607249 http://www.informatics.jax.org/searchtool/Search.do?query=CATSPER2&submit=Quick%0D%11858ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPER2 rs35740631 0.0948482 0 0 1 0 0 intronic UTR3 intronic CATSPER2 CATSPER2(uc001zsk.3:c.*751C>T) ENSG00000166762,ENSG00000242866 Na Na Na Na Na Na Het;G>A 678;41|31 Het;G>A 475;21|20 Hom;G>A 2037;2|74 N N - 15 43941456 43941456 C T snp ncRNA_exonic PDIA3P2 rs112667279 0.0948482 0 0 1 0 0 upstream upstream ncRNA_exonic CATSPER2 CATSPER2 ENSG00000224677 Na Na Na Na Na Na Het;C>T 853;32|38 Het;C>T 479;22|23 Hom;C>T 1273;0|44 N N - 15 43989530 43989530 T C snp intronic CKMT1A Ckmt1 ENSG00000223572 creatine kinase, mitochondrial 1A chr15:43985084-43991420 Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition. Creatine metabolism GO:0006600;creatine metabolic process;TAS|GO:0016310;phosphorylation;IEA GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004111;creatine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016772;transferase activity, transferring phosphorus-containing groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/CKMT1A https://www.ncbi.nlm.nih.gov/omim/?term=613415 http://www.informatics.jax.org/searchtool/Search.do?query=CKMT1A&submit=Quick%0D%18485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CKMT1A rs2927085 0.491813 0 0 1 0 0 intronic intronic intronic CKMT1A CKMT1A ENSG00000223572,ENSG00000242866 Na Na Na Na Na Na Het;T>C 2658;71|112 Het;T>C 1434;79|69 Hom;T>C 6975;4|264 N N - 15 43995786 43995786 C T snp ncRNA_exonic STRCP1 rs3110081 0.238818 0 0 1 0 0 intergenic intergenic ncRNA_exonic CKMT1A(dist=4366),CATSPER2P1(dist=32360) CKMT1A(dist=4366),STRC(dist=6886) ENSG00000166763 Na Na Na Na Na Na Het;C>T 997;36|27 Het;C>T 1160;32|30 Hom;C>T 3486;0|81 N N - 15 43995789 43995789 C T snp ncRNA_exonic STRCP1 rs2470135 0.478235 0 0 1 0 0 intergenic intergenic ncRNA_exonic CKMT1A(dist=4369),CATSPER2P1(dist=32357) CKMT1A(dist=4369),STRC(dist=6883) ENSG00000166763 Na Na Na Na Na Na Het;C>T 997;36|27 Het;C>T 1160;32|31 Hom;C>T 3436;0|79 N N - 15 44119313 44119314 CA C indel UTR5 -982_-981delinsC WDR76 Wdr76 ENSG00000092470 WD repeat domain 76 chr15:44119161-44160617 Type 2 Diabetes| edema | rosiglitazone GO:0006974;cellular response to DNA damage stimulus;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR76 https://www.uniprot.org/uniprot/Q9H967 http://www.informatics.jax.org/searchtool/Search.do?query=WDR76&submit=Quick%0D%2194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR76 rs3832984 0.323682 0.3193 0.2826 1 0 0 intronic intronic UTR5 WDR76 WDR76 ENSG00000092470(ENST00000381246:c.-982_-981delinsC) Na Na Na Na Na Na Het;-A 2212;88|73 Het;-A 2001;66|65 Hom;-A 5839;0|158 N N - 15 44169741 44169741 A C snp ncRNA_exonic PIN4P1 rs33986791 0.0848642 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic PIN4P1 PIN4P1 ENSG00000171877 Na Na Na Na Na Na Het;A>C 2320;82|93 Het;A>C 1643;80|69 Hom;A>C 5204;0|178 N N - 15 44211868 44211868 G A snp intronic FRMD5 Frmd5 ENSG00000171877 FERM domain containing 5 chr15:44162962-44487450 Triglycerides GO:0008150;biological_process;ND|GO:0030334;regulation of cell migration;IMP|GO:0031032;actomyosin structure organization;IBA|GO:0045785;positive regulation of cell adhesion;IMP|GO:2000146;negative regulation of cell motility;IMP GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IBA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IDA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0019901;protein kinase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FRMD5 https://www.ncbi.nlm.nih.gov/omim/?term=616309 http://www.informatics.jax.org/searchtool/Search.do?query=FRMD5&submit=Quick%0D%13039ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD5 rs2016840 0.474042 0 0 1 0 0 intronic intronic intronic FRMD5 FRMD5 ENSG00000171877 Na Na Na Na Na Na Het;G>A 181;16|7 Het;G>A 89;11|5 Hom;G>A 619;0|20 N N - 15 45424286 45424286 C G snp intronic DUOX1 Duox1 ENSG00000137857 dual oxidase 1 chr15:45422131-45457774 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012] Cholesterol, HDL; sarcoidosis tuberculosis; Hepatopulmonary Syndrome|Liver Cirrhosis; HIV; thyroid cancer; Hemoglobin A, Glycosylated Thyroxine biosynthesis GO:0006590;thyroid hormone generation;TAS|GO:0006979;response to oxidative stress;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0042335;cuticle development;IMP|GO:0042446;hormone biosynthetic process;IEA|GO:0042554;superoxide anion generation;NAS|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0050665;hydrogen peroxide biosynthetic process;NAS|GO:0051591;response to cAMP;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0016174;NAD(P)H oxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050661;NADP binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/DUOX1 https://www.uniprot.org/uniprot/Q9NRD9 https://www.ncbi.nlm.nih.gov/omim/?term=606758 http://www.informatics.jax.org/searchtool/Search.do?query=DUOX1&submit=Quick%0D%7622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUOX1 rs1706810 0.491813 0.5945 0 1 0 0 intronic intronic intronic DUOX1 DUOX1 ENSG00000137857 Na Na Na Na Na Na Het;C>G 551;27|23 Het;C>G 637;27|28 Hom;C>G 1930;0|69 N N - 15 45561904 45561904 G A snp ncRNA_intronic AC051619.5 rs16941238 0.171326 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928414 SLC28A2 ENSG00000259520 Na Na Na Na Na Na Het;G>A 249;2|9 Ref Hom;G>A 207;0|7 N N - 15 45951064 45951064 T G snp intronic SQRDL Sqrdl rs16946633 0.202276 0 0 1 0 0 intronic intronic intronic SQRDL SQRDL ENSG00000137767,ENSG00000260170 Na Na Na Na Na Na Het;T>G 267;17|11 Het;T>G 398;8|16 Hom;T>G 1065;0|32 N N - 15 49103244 49103244 T C snp ncRNA_exonic AC012379.2 rs2304546 0.197085 0 0 1 0 0 UTR5 UTR5 ncRNA_exonic CEP152(NM_014985:c.-5398A>G,NM_001194998:c.-5398A>G) CEP152(uc001zwz.3:c.-5398A>G,uc001zwy.3:c.-5398A>G,uc001zxa.2:c.-5398A>G) ENSG00000259700 Na Na Na Na Na Na Het;T>C 1861;109|83 Het;T>C 1634;71|72 Hom;T>C 4322;2|154 N N - 15 49148356 49148356 C A snp intronic SHC4 Shc4 ENSG00000185634 SHC adaptor protein 4 chr15:49115932-49255641 Apolipoproteins E; Iron; Echocardiography; Heart Failure; Depressive Disorder, Major; Tobacco Use Disorder GO:0006915;apoptotic process;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048863;stem cell differentiation;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030971;receptor tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SHC4 https://www.ncbi.nlm.nih.gov/omim/?term=617372 http://www.informatics.jax.org/searchtool/Search.do?query=SHC4&submit=Quick%0D%15454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHC4 rs16961733 0.214457 0.1355 0.1845 1 0 0 intronic intronic intronic SHC4 SHC4 ENSG00000185634 Na Na Na Na Na Na Het;C>A 474;17|20 Het;C>A 632;28|23 Hom;C>A 1132;0|40 N N - 15 49620971 49620972 AT A indel UTR3 *615_*616delinsA GALK2 Galk2 ENSG00000156958 galactokinase 2 chr15:49447853-49660066 This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014] GO:0005975;carbohydrate metabolic process;TAS|GO:0006012;galactose metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046835;carbohydrate phosphorylation;IEA GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004335;galactokinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0033858;N-acetylgalactosamine kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALK2 https://www.ncbi.nlm.nih.gov/omim/?term=137028 http://www.informatics.jax.org/searchtool/Search.do?query=GALK2&submit=Quick%0D%10034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALK2 rs570528482 0.660743 0 0 1 0 0 UTR3 UTR3 UTR3 GALK2(NM_001001556:c.*615_*616delinsA,NM_002044:c.*615_*616delinsA,NM_001289031:c.*615_*616delinsA,NM_001289030:c.*615_*616delinsA) GALK2(uc001zxi.1:c.*615_*616delinsA,uc001zxj.1:c.*615_*616delinsA,uc010ufb.1:c.*615_*616delinsA,uc010ufc.1:c.*615_*616delinsA) ENSG00000156958(ENST00000327171:c.*615_*616delinsA,ENST00000560528:c.*80_*81delinsA) Na Na Na Na Na Na Het;-T 253;2|15 Het;-T 114;4|10 Hom;-T 117;1|8 N N - 15 50209357 50209357 G A snp intronic ATP8B4 Atp8b4 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) chr15:50150435-50475014 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4 https://www.uniprot.org/uniprot/Q8TF62 https://www.ncbi.nlm.nih.gov/omim/?term=609123 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4 rs35453457 0.202077 0 0 1 0 0 intronic intronic intronic ATP8B4 ATP8B4 ENSG00000104043 Na Na Na Na Na Na Het;G>A 255;9|10 Het;G>A 375;12|16 Hom;G>A 624;1|22 N N - 15 50226313 50226313 G T snp nonsynonymous SNV C973A H325N aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral ATP8B4 Atp8b4 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) chr15:50150435-50475014 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4 https://www.uniprot.org/uniprot/Q8TF62 https://www.ncbi.nlm.nih.gov/omim/?term=609123 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4 rs2452524 0.639776 0.7437 0.6624 0.08 1 13 exonic exonic exonic ATP8B4 ATP8B4 ENSG00000104043 nonsynonymous SNV nonsynonymous SNV unknown ATP8B4:NM_024837:exon15:c.C1354A:p.H452N, ATP8B4:uc010ufd.2:exon16:c.C973A:p.H325N,ATP8B4:uc001zxu.3:exon15:c.C1354A:p.H452N,ATP8B4:uc010ber.3:exon16:c.C973A:p.H325N, UNKNOWN Het;G>T 817;12|37 Het;G>T 680;29|34 Hom;G>T 1771;0|69 N N - 15 50254280 50254280 T C snp intronic ATP8B4 Atp8b4 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) chr15:50150435-50475014 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4 https://www.uniprot.org/uniprot/Q8TF62 https://www.ncbi.nlm.nih.gov/omim/?term=609123 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4 rs12442430 0.336861 0.4343 0 1 0 0 intronic intronic intronic ATP8B4 ATP8B4 ENSG00000104043 Na Na Na Na Na Na Het;T>C 539;25|24 Het;T>C 158;23|10 Hom;T>C 931;0|32 N N - 15 50272085 50272085 A G snp intronic ATP8B4 Atp8b4 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) chr15:50150435-50475014 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4 https://www.uniprot.org/uniprot/Q8TF62 https://www.ncbi.nlm.nih.gov/omim/?term=609123 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4 rs8034382 0.415935 0 0 1 0 0 intronic intronic intronic ATP8B4 ATP8B4 ENSG00000104043 Na Na Na Na Na Na Het;A>G 161;3|6 Het;A>G 89;3|5 Hom;A>G 416;0|14 N N - 15 50279662 50279662 T C snp nonsynonymous SNV A293G N98S polar,hydrophilic,neutral polar,hydrophilic,neutral ATP8B4 Atp8b4 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) chr15:50150435-50475014 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4 https://www.uniprot.org/uniprot/Q8TF62 https://www.ncbi.nlm.nih.gov/omim/?term=609123 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4 rs16963151 0.292133 0.2717 0.2507 0.15 2 13 exonic exonic exonic ATP8B4 ATP8B4 ENSG00000104043 nonsynonymous SNV nonsynonymous SNV unknown ATP8B4:NM_024837:exon10:c.A674G:p.N225S, ATP8B4:uc010ufd.2:exon11:c.A293G:p.N98S,ATP8B4:uc001zxu.3:exon10:c.A674G:p.N225S,ATP8B4:uc010ber.3:exon11:c.A293G:p.N98S, UNKNOWN Het;T>C 679;52|34 Het;T>C 1283;54|57 Hom;T>C 3290;0|120 N N - 15 51751091 51751097 TAGCAGC T indel ncRNA_exonic AC066613.1 rs111734926 0.538938 0 0 1 0 0 intronic intronic ncRNA_exonic DMXL2 DMXL2 ENSG00000259668 Na Na Na Na Na Na Het;-AGCAGC 210;2|6 Het;-AGCAGC 113;6|4 Hom;-AGCAGC 504;0|12 N N - 15 51758345 51758346 CA C indel ncRNA_intronic AC066613.2 rs10706765 0.658347 0 0.7201 1 0 0 intronic intronic ncRNA_intronic DMXL2 DMXL2 ENSG00000259678 Na Na Na Na Na Na Het;-A 859;53|48 Het;-A 872;51|49 Hom;-A 1915;6|87 N N - 15 51770456 51770457 AT A indel ncRNA_intronic AC066613.2 rs11291027 0.683906 0 0.7154 1 0 0 intronic intronic ncRNA_intronic DMXL2 DMXL2 ENSG00000259678 Na Na Na Na Na Na Het;-T 844;35|42 Het;-T 1229;63|62 Hom;-T 3428;2|133 N N - 15 52528080 52528080 G A snp intronic MYO5C Myo5c ENSG00000128833 myosin VC chr15:52484519-52587995 Tobacco Use Disorder GO:0016459;myosin complex;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO5C https://www.uniprot.org/uniprot/Q9NQX4 https://www.ncbi.nlm.nih.gov/omim/?term=610022 http://www.informatics.jax.org/searchtool/Search.do?query=MYO5C&submit=Quick%0D%6187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5C rs8031357 0.495008 0 0 1 0 0 intronic intronic intronic MYO5C MYO5C ENSG00000128833 Na Na Na Na Na Na Het;G>A 146;2|5 Het;G>A 33;2|2 Hom;G>A 273;0|8 N N - 15 52531941 52531941 A G snp synonymous SNV T2692C L898L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MYO5C Myo5c ENSG00000128833 myosin VC chr15:52484519-52587995 Tobacco Use Disorder GO:0016459;myosin complex;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO5C https://www.uniprot.org/uniprot/Q9NQX4 https://www.ncbi.nlm.nih.gov/omim/?term=610022 http://www.informatics.jax.org/searchtool/Search.do?query=MYO5C&submit=Quick%0D%6187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5C rs11635028 0.592851 0.8169 0.7978 1 0 0 exonic exonic exonic MYO5C MYO5C ENSG00000128833 synonymous SNV synonymous SNV unknown MYO5C:NM_018728:exon21:c.T2692C:p.L898L, MYO5C:uc010bff.3:exon21:c.T2692C:p.L898L, UNKNOWN Het;A>G 1258;46|56 Het;A>G 1670;48|72 Hom;A>G 2671;0|95 N N - 15 52534344 52534344 G A snp synonymous SNV C2457T R819R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MYO5C Myo5c ENSG00000128833 myosin VC chr15:52484519-52587995 Tobacco Use Disorder GO:0016459;myosin complex;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO5C https://www.uniprot.org/uniprot/Q9NQX4 https://www.ncbi.nlm.nih.gov/omim/?term=610022 http://www.informatics.jax.org/searchtool/Search.do?query=MYO5C&submit=Quick%0D%6187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5C rs3751631 0.382987 0.6415 0.6533 1 0 0 exonic exonic exonic MYO5C MYO5C ENSG00000128833 synonymous SNV synonymous SNV unknown MYO5C:NM_018728:exon20:c.C2457T:p.R819R, MYO5C:uc010bff.3:exon20:c.C2457T:p.R819R, UNKNOWN Het;G>A 1196;68|54 Het;G>A 1111;44|53 Hom;G>A 3001;0|114 N N - 15 52702785 52702785 A AT indel intronic MYO5A Myo5a ENSG00000197535 myosin VA chr15:52599480-52821247 This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] chronic obstructive pulmonary disease; Griscelli syndrome; hair thickness; Hip; bladder cancer; lung cancer; Urinalysis; Tobacco Use Disorder; lung cancer ; Melanoma|Skin Neoplasms Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. Insulin processing GO:0006582;melanin metabolic process;IEA|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0030048;actin filament-based movement;NAS|GO:0030050;vesicle transport along actin filament;IMP|GO:0030073;insulin secretion;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0031585;regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;IEA|GO:0031987;locomotion involved in locomotory behavior;IEA|GO:0032252;secretory granule localization;IEA|GO:0032400;melanosome localization;IEA|GO:0032402;melanosome transport;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0042438;melanin biosynthetic process;IEA|GO:0042476;odontogenesis;IEA|GO:0042552;myelination;IEA|GO:0042759;long-chain fatty acid biosynthetic process;IEA|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048820;hair follicle maturation;IEA|GO:0050808;synapse organization;IEA|GO:0051643;endoplasmic reticulum localization;IEA|GO:0072659;protein localization to plasma membrane;IEA GO:0001726;ruffle;IDA|GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005777;peroxisome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005882;intermediate filament;IEA|GO:0005884;actin filament;IDA|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IEA|GO:0030141;secretory granule;IEA|GO:0030426;growth cone;NAS|GO:0031982;vesicle;IDA|GO:0032433;filopodium tip;IDA|GO:0032593;insulin-responsive compartment;IEA|GO:0035371;microtubule plus-end;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;IEA|GO:0043005;neuron projection;NAS|GO:0043025;neuronal cell body;IEA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA GO:0000146;microfilament motor activity;NAS|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0017137;Rab GTPase binding;IPI|GO:0051015;actin filament binding;IEA|GO:0097718;disordered domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO5A https://hpo.jax.org/app/browse/search?q=MYO5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160777 http://www.informatics.jax.org/searchtool/Search.do?query=MYO5A&submit=Quick%0D%16649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5A rs5812605 0.394968 0 0 1 0 0 intronic intronic intronic MYO5A MYO5A ENSG00000197535 Na Na Na Na Na Na Het;+T 192;4|13 Het;+T 100;5|8 Hom;+T 112;1|8 N N - 15 52897478 52897478 T C snp intronic FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs2414163 0.417133 0.6068 0.6231 1 0 0 intronic intronic intronic FAM214A FAM214A ENSG00000047346 Na Na Na Na Na Na Het;T>C 575;32|26 Het;T>C 605;16|23 Hom;T>C 1235;0|39 N N - 15 52901433 52901433 C T snp nonsynonymous SNV G1414A V472I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs12915981 0.4373 0.6153 0.6249 0.08 1 13 exonic exonic exonic FAM214A FAM214A ENSG00000047346 nonsynonymous SNV nonsynonymous SNV unknown FAM214A:NM_019600:exon6:c.G1678A:p.V560I,FAM214A:NM_001286495:exon5:c.G1699A:p.V567I, FAM214A:uc010bfg.1:exon5:c.G1414A:p.V472I,FAM214A:uc002acg.4:exon6:c.G1678A:p.V560I,FAM214A:uc010ugf.2:exon5:c.G1699A:p.V567I, UNKNOWN Het;C>T 1094;32|43 Het;C>T 1106;63|48 Hom;C>T 3034;1|106 N N - 15 52901638 52901638 T C snp synonymous SNV A1473G Q491Q polar,hydrophilic,neutral polar,hydrophilic,neutral FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs3751614 0.416933 0.6006 0.6197 1 0 0 exonic exonic exonic FAM214A FAM214A ENSG00000047346 synonymous SNV synonymous SNV unknown FAM214A:NM_019600:exon6:c.A1473G:p.Q491Q,FAM214A:NM_001286495:exon5:c.A1494G:p.Q498Q, FAM214A:uc010bfg.1:exon5:c.A1209G:p.Q403Q,FAM214A:uc002acg.4:exon6:c.A1473G:p.Q491Q,FAM214A:uc010ugf.2:exon5:c.A1494G:p.Q498Q, UNKNOWN Het;T>C 1630;59|69 Het;T>C 1314;88|58 Hom;T>C 4940;2|171 N N - 15 52901977 52901977 G A snp synonymous SNV C1134T A378A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs2414166 0.417133 0.6003 0.6195 1 0 0 exonic exonic exonic FAM214A FAM214A ENSG00000047346 synonymous SNV synonymous SNV unknown FAM214A:NM_019600:exon6:c.C1134T:p.A378A,FAM214A:NM_001286495:exon5:c.C1155T:p.A385A, FAM214A:uc010bfg.1:exon5:c.C870T:p.A290A,FAM214A:uc002acg.4:exon6:c.C1134T:p.A378A,FAM214A:uc010ugf.2:exon5:c.C1155T:p.A385A, UNKNOWN Het;G>A 995;59|44 Het;G>A 982;64|42 Hom;G>A 2669;2|94 N N - 15 52904046 52904046 C A snp intronic FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs4776063 0.533147 0 0 1 0 0 intronic intronic intronic FAM214A FAM214A ENSG00000047346 Na Na Na Na Na Na Het;C>A 436;16|18 Het;C>A 323;11|14 Hom;C>A 652;0|22 N N - 15 52970993 52970993 G A snp upstream FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs12914047 0.40615 0 0 1 0 0 upstream upstream intronic FAM214A FAM214A ENSG00000047346 Na Na Na Na Na Na Het;G>A 212;4|8 Ref Hom;G>A 122;0|4 N N - 15 53010055 53010055 C T snp intergenic FAM214A Fam214a ENSG00000047346 family with sequence similarity 214 member A chr15:52873514-53002014 Monocytes; Stroke; Cholesterol, LDL; Cholesterol GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM214A https://www.uniprot.org/uniprot/Q32MH5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM214A&submit=Quick%0D%866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM214A rs11636722 0.394169 0 0 1 0 0 intergenic intergenic intergenic FAM214A(dist=39224),ONECUT1(dist=39105) FAM214A(dist=39102),ONECUT1(dist=39105) ENSG00000047346(dist=8041),ENSG00000169856(dist=39582) Na Na Na Na Na Na Het;C>T 1420;44|69 Het;C>T 965;39|44 Hom;C>T 2390;0|92 N N - 15 53073084 53073084 G A snp UTR5 -265C>T ONECUT1 Onecut1 ENSG00000169856 one cut homeobox 1 chr15:53049637-53083273 This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] diabetes, type 2; Body Mass Index; Lipids; Cholesterol, HDL; Triglycerides Homozygous mutation of this gene results in partial postnatal lethality, billiary tract, pancreas, and islet of Langerhans abnormalities, growth retardation, and glucose and insulin metabolism defects. Regulation of gene expression in early pancreatic precursor cells GO:0001889;liver development;IEA|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0002064;epithelial cell development;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007492;endoderm development;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0031016;pancreas development;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048536;spleen development;IEA|GO:0048731;system development;IBA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ONECUT1 https://www.ncbi.nlm.nih.gov/omim/?term=604164 http://www.informatics.jax.org/searchtool/Search.do?query=ONECUT1&submit=Quick%0D%12577ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ONECUT1 rs2460 0.363618 0 0 1 0 0 intronic intronic UTR5 ONECUT1 ONECUT1 ENSG00000169856(ENST00000560699:c.-265C>T) Na Na Na Na Na Na Het;G>A 674;31|29 Het;G>A 666;31|30 Hom;G>A 2178;0|80 N N - 15 53907948 53907948 G A snp nonsynonymous SNV C2455T L819F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral WDR72 Wdr72 ENSG00000166415 WD repeat domain 72 chr15:53805938-54055075 This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR72 https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613214 http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72 rs17730281 0.266973 0.1995 0.2549 0.77 10 13 exonic exonic exonic WDR72 WDR72 ENSG00000166415 nonsynonymous SNV nonsynonymous SNV unknown WDR72:NM_182758:exon15:c.C2455T:p.L819F, WDR72:uc002acj.2:exon15:c.C2455T:p.L819F,WDR72:uc010bfi.1:exon17:c.C2455T:p.L819F,WDR72:uc031qse.1:exon15:c.C2455T:p.L819F, UNKNOWN Het;G>A 1446;40|59 Het;G>A 1591;84|67 Hom;G>A 6119;0|207 N N - 15 53994493 53994493 A G snp synonymous SNV T1407C Y469Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic WDR72 Wdr72 ENSG00000166415 WD repeat domain 72 chr15:53805938-54055075 This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR72 https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613214 http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72 rs6416452 0.639776 0.5629 0.5792 1 0 0 exonic exonic exonic WDR72 WDR72 ENSG00000166415 synonymous SNV synonymous SNV unknown WDR72:NM_182758:exon12:c.T1407C:p.Y469Y, WDR72:uc002acj.2:exon12:c.T1407C:p.Y469Y,WDR72:uc010bfi.1:exon14:c.T1407C:p.Y469Y,WDR72:uc031qse.1:exon12:c.T1407C:p.Y469Y, UNKNOWN Het;A>G 1472;81|68 Het;A>G 1360;73|67 Hom;A>G 3662;0|127 N N - 15 54105213 54105213 G C snp intergenic WDR72 Wdr72 ENSG00000166415 WD repeat domain 72 chr15:53805938-54055075 This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Creatinine; diabetes, type 1 ; Cholesterol; Fibrinogen; Lipids; Cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Longevity; Stroke; Mental Competency; Body Height Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. GO:0031214;biomineral tissue development;IEA|GO:0070166;enamel mineralization;IEA GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR72 https://hpo.jax.org/app/browse/search?q=WDR72&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613214 http://www.informatics.jax.org/searchtool/Search.do?query=WDR72&submit=Quick%0D%11785ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR72 rs77094875 0.0974441 0 0 1 0 0 intergenic intergenic intergenic WDR72(dist=53354),UNC13C(dist=199888) WDR72(dist=50138),UNC13C(dist=199888) ENSG00000206641(dist=48706),ENSG00000259301(dist=24255) Na Na Na Na Na Na Het;G>C 289;18|12 Het;G>C 570;22|24 Hom;G>C 1025;0|39 N N - 15 54481428 54481428 A G snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs11637801 0.474241 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;A>G 101;3|4 Ref Hom;A>G 158;0|6 N N - 15 54481561 54481561 C T snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs74019404 0.38139 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;C>T 968;25|26 Het;C>T 133;58|8 Hom;C>T 1314;0|33 N N - 15 54481571 54481571 T A snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs2115826 0.709465 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;T>A 633;25|25 Ref Hom;T>A 813;0|26 N N - 15 54592355 54592355 T C snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs7164993 0.158946 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;T>C 247;15|10 Het;T>C 713;11|29 Hom;T>C 1382;0|42 N N - 15 54841696 54841696 G A snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs10468008 0.36262 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;G>A 70;4|3 Ref Hom;G>A 210;0|6 N N - 15 54841874 54841874 A G snp synonymous SNV A5862G Q1954Q polar,hydrophilic,neutral polar,hydrophilic,neutral UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs9302181 0.363818 0.3181 0.3840 1 0 0 exonic exonic exonic UNC13C UNC13C ENSG00000137766 synonymous SNV synonymous SNV unknown UNC13C:NM_001080534:exon26:c.A5862G:p.Q1954Q, UNC13C:uc021smr.1:exon26:c.A5856G:p.Q1952Q,UNC13C:uc021sms.1:exon27:c.A5862G:p.Q1954Q, UNKNOWN Het;A>G 517;31|27 Het;A>G 882;46|45 Hom;A>G 2225;2|88 N N - 15 54847509 54847509 G T snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs8039515 0.665335 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;G>T 98;4|4 Het;G>T 94;5|4 Hom;G>T 205;0|6 N N - 15 54847677 54847677 C T snp synonymous SNV C5925T C1975C polar,hydrophobic,neutral polar,hydrophobic,neutral UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs11639005 0.409345 0.3491 0.4458 1 0 0 exonic exonic exonic UNC13C UNC13C ENSG00000137766 synonymous SNV synonymous SNV unknown UNC13C:NM_001080534:exon27:c.C5925T:p.C1975C, UNC13C:uc021smr.1:exon27:c.C5919T:p.C1973C,UNC13C:uc021sms.1:exon28:c.C5925T:p.C1975C, UNKNOWN Het;C>T 381;40|23 Het;C>T 701;43|37 Hom;C>T 3003;2|115 N N - 15 54847786 54847786 A G snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs11639014 0.362021 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;A>G 85;7|4 Het;A>G 244;7|9 Hom;A>G 633;0|17 N N - 15 54914716 54914716 C T snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs2681964 0.794329 0 0 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;C>T 206;6|8 Het;C>T 154;9|7 Hom;C>T 338;0|10 N N - 15 54915975 54915975 A T snp intronic UNC13C Unc13c ENSG00000137766 unc-13 homolog C chr15:54305101-54920806 Tobacco Use Disorder; Parkinson Disease; Neutrophils; Body Mass Index; Psychomotor Performance; Heart Failure; Body Weight; Cardiovascular Diseases; Cognitive performance; Lymphocytes; Celiac Disease|; Blood Pressure; Cholesterol; Cholesterol, LDL; Glucose; Arteries; Monocytes; Alkaline Phosphatase Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. GO:0006887;exocytosis;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0016079;synaptic vesicle exocytosis;IBA|GO:0031914;negative regulation of synaptic plasticity;IEA|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043195;terminal bouton;IBA|GO:0044305;calyx of Held;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098793;presynapse;IEA GO:0019992;diacylglycerol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC13C https://www.uniprot.org/uniprot/Q8NB66 https://www.ncbi.nlm.nih.gov/omim/?term=614568 http://www.informatics.jax.org/searchtool/Search.do?query=UNC13C&submit=Quick%0D%7597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC13C rs2414332 0.580072 0.5901 0.6472 1 0 0 intronic intronic intronic UNC13C UNC13C ENSG00000137766 Na Na Na Na Na Na Het;A>T 679;46|33 Het;A>T 1227;40|52 Hom;A>T 2982;0|102 N N - 15 56365269 56365269 T TTTA indel intergenic NEDD4 Nedd4 ENSG00000069869 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase chr15:56119120-56285944 This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016] Chronic lymphocytic leukemia; Heart Failure; Keloid Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development. Antigen processing: Ubiquitination & Proteasome degradation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002250;adaptive immune response;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003197;endocardial cushion development;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006622;protein targeting to lysosome;IDA|GO:0007041;lysosomal transport;IDA|GO:0007399;nervous system development;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0010766;negative regulation of sodium ion transport;IDA|GO:0010768;negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0016032;viral process;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019089;transmission of virus;IMP|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0031175;neuron projection development;IEP|GO:0031623;receptor internalization;IDA|GO:0032801;receptor catabolic process;IDA|GO:0034644;cellular response to UV;IMP|GO:0034765;regulation of ion transmembrane transport;IDA|GO:0042110;T cell activation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0042921;glucocorticoid receptor signaling pathway;IDA|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:0044111;development involved in symbiotic interaction;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046824;positive regulation of nucleocytoplasmic transport;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0048814;regulation of dendrite morphogenesis;ISS|GO:0050807;regulation of synapse organization;IEA|GO:0050847;progesterone receptor signaling pathway;IDA|GO:0051592;response to calcium ion;TAS|GO:0070534;protein K63-linked ubiquitination;ISS|GO:1901016;regulation of potassium ion transmembrane transporter activity;IDA|GO:2000650;negative regulation of sodium ion transmembrane transporter activity;IDA GO:0000151;ubiquitin ligase complex;ISS|GO:0000785;chromatin;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IMP|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;TAS|GO:0043197;dendritic spine;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0019871;sodium channel inhibitor activity;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031698;beta-2 adrenergic receptor binding;IDA|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0050815;phosphoserine binding;ISS|GO:0050816;phosphothreonine binding;ISS|GO:0061630;ubiquitin protein ligase activity;IDA|GO:0070063;RNA polymerase binding;IPI|GO:0070064;proline-rich region binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/NEDD4 https://www.uniprot.org/uniprot/P46934 https://www.ncbi.nlm.nih.gov/omim/?term=602278 http://www.informatics.jax.org/searchtool/Search.do?query=NEDD4&submit=Quick%0D%1330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEDD4 rs149684342 0.515775 0 0 1 0 0 intergenic intergenic intergenic NEDD4(dist=79325),RFX7(dist=17462) NEDD4(dist=79434),RFX7(dist=14210) ENSG00000261333(dist=1432),ENSG00000181827(dist=14209) Na Na Na Na Na Na Het;+TTA 365;2|10 Het;+TTA 236;6|8 Hom;+TTA 1054;1|26 N N - 15 57539363 57539366 CCAT C indel ncRNA_exonic HNRNPA3P11 rs144660254 0 0 0 1 0 0 intronic intronic ncRNA_exonic TCF12 TCF12 ENSG00000260689 Na Na Na Na Na Na Het;-CAT 725;2|19 Het;-CAT 194;7|6 Hom;-CAT 997;0|24 N N - 15 57731728 57731728 A G snp nonsynonymous SNV A1531G T511A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CGNL1 Cgnl1 ENSG00000128849 cingulin like 1 chr15:57668165-57842925 This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] Bipolar Disorder GO:0005923;bicellular tight junction;IEA|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA GO:0003774;motor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CGNL1 https://www.uniprot.org/uniprot/Q0VF96 https://www.ncbi.nlm.nih.gov/omim/?term=607856 http://www.informatics.jax.org/searchtool/Search.do?query=CGNL1&submit=Quick%0D%6188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CGNL1 rs1280396 0.862021 0.8472 0.8463 0.08 1 13 exonic exonic exonic CGNL1 CGNL1 ENSG00000128849 nonsynonymous SNV nonsynonymous SNV unknown CGNL1:NM_001252335:exon3:c.A1531G:p.T511A,CGNL1:NM_032866:exon2:c.A1531G:p.T511A, CGNL1:uc002aeg.3:exon2:c.A1531G:p.T511A,CGNL1:uc010bfw.3:exon3:c.A1531G:p.T511A, UNKNOWN Het;A>G 597;58|31 Ref Hom;A>G 1946;0|70 N N - 15 57732743 57732743 T C snp intronic CGNL1 Cgnl1 ENSG00000128849 cingulin like 1 chr15:57668165-57842925 This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] Bipolar Disorder GO:0005923;bicellular tight junction;IEA|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA GO:0003774;motor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CGNL1 https://www.uniprot.org/uniprot/Q0VF96 https://www.ncbi.nlm.nih.gov/omim/?term=607856 http://www.informatics.jax.org/searchtool/Search.do?query=CGNL1&submit=Quick%0D%6188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CGNL1 rs1280398 0.697883 0 0 1 0 0 intronic intronic intronic CGNL1 CGNL1 ENSG00000128849 Na Na Na Na Na Na Het;T>C 150;7|6 Ref Hom;T>C 296;0|9 N N - 15 57732774 57732774 C T snp intronic CGNL1 Cgnl1 ENSG00000128849 cingulin like 1 chr15:57668165-57842925 This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] Bipolar Disorder GO:0005923;bicellular tight junction;IEA|GO:0016459;myosin complex;IEA|GO:0030054;cell junction;IEA GO:0003774;motor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CGNL1 https://www.uniprot.org/uniprot/Q0VF96 https://www.ncbi.nlm.nih.gov/omim/?term=607856 http://www.informatics.jax.org/searchtool/Search.do?query=CGNL1&submit=Quick%0D%6188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CGNL1 rs17820299 0.266773 0 0 1 0 0 intronic intronic intronic CGNL1 CGNL1 ENSG00000128849 Na Na Na Na Na Na Het;C>T 102;3|4 Ref Hom;C>T 88;0|3 N N - 15 58247563 58247563 C G snp intronic ALDH1A2 Aldh1a2 ENSG00000128918 aldehyde dehydrogenase 1 family member A2 chr15:58245622-58790065 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. RA biosynthesis pathway GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2 https://www.uniprot.org/uniprot/O94788 https://www.ncbi.nlm.nih.gov/omim/?term=603687 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2 rs4646640 0.254792 0 0 1 0 0 intronic intronic intronic ALDH1A2 ALDH1A2 ENSG00000128918 Na Na Na Na Na Na Het;C>G 136;9|6 Ref Hom;C>G 352;0|13 N N - 15 58253062 58253062 C T snp intronic ALDH1A2 Aldh1a2 ENSG00000128918 aldehyde dehydrogenase 1 family member A2 chr15:58245622-58790065 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. RA biosynthesis pathway GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2 https://www.uniprot.org/uniprot/O94788 https://www.ncbi.nlm.nih.gov/omim/?term=603687 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2 rs3784263 0.305911 0.4237 0.3757 1 0 0 intronic intronic intronic ALDH1A2 ALDH1A2 ENSG00000128918 Na Na Na Na Na Na Het;C>T 125;15|8 Ref Hom;C>T 735;0|28 N N - 15 58253106 58253106 T C snp intronic ALDH1A2 Aldh1a2 ENSG00000128918 aldehyde dehydrogenase 1 family member A2 chr15:58245622-58790065 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. RA biosynthesis pathway GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2 https://www.uniprot.org/uniprot/O94788 https://www.ncbi.nlm.nih.gov/omim/?term=603687 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2 rs3784262 0.266374 0.4037 0 1 0 0 intronic intronic intronic ALDH1A2 ALDH1A2 ENSG00000128918 Na Na Na Na Na Na Het;T>C 166;6|7 Ref Hom;T>C 352;0|13 N N - 15 58256127 58256127 C T snp nonsynonymous SNV G928A V310I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ALDH1A2 Aldh1a2 ENSG00000128918 aldehyde dehydrogenase 1 family member A2 chr15:58245622-58790065 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. RA biosynthesis pathway GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2 https://www.uniprot.org/uniprot/O94788 https://www.ncbi.nlm.nih.gov/omim/?term=603687 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2 rs4646626 0.372804 0.4719 0.4462 0.15 2 13 exonic exonic exonic ALDH1A2 ALDH1A2 ENSG00000128918 nonsynonymous SNV nonsynonymous SNV unknown ALDH1A2:NM_170696:exon8:c.G928A:p.V310I,ALDH1A2:NM_003888:exon9:c.G1042A:p.V348I,ALDH1A2:NM_170697:exon7:c.G754A:p.V252I,ALDH1A2:NM_001206897:exon10:c.G979A:p.V327I, ALDH1A2:uc002aey.3:exon8:c.G928A:p.V310I,ALDH1A2:uc002aex.3:exon9:c.G1042A:p.V348I,ALDH1A2:uc010ugv.2:exon10:c.G979A:p.V327I,ALDH1A2:uc002aew.3:exon7:c.G754A:p.V252I,ALDH1A2:uc010ugw.2:exon9:c.G955A:p.V319I, UNKNOWN Het;C>T 1528;46|69 Het;C>T 977;57|47 Hom;C>T 3121;1|114 N N - 15 58256296 58256296 C T snp intronic ALDH1A2 Aldh1a2 ENSG00000128918 aldehyde dehydrogenase 1 family member A2 chr15:58245622-58790065 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. RA biosynthesis pathway GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2 https://www.uniprot.org/uniprot/O94788 https://www.ncbi.nlm.nih.gov/omim/?term=603687 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2 rs4646625 0.371805 0.4713 0.4481 1 0 0 intronic intronic intronic ALDH1A2 ALDH1A2 ENSG00000128918 Na Na Na Na Na Na Het;C>T 1295;26|53 Het;C>T 910;41|38 Hom;C>T 1610;1|55 N N - 15 58257847 58257847 C T snp intronic ALDH1A2 Aldh1a2 ENSG00000128918 aldehyde dehydrogenase 1 family member A2 chr15:58245622-58790065 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] neural tube defects; Kidney Diseases|Vitamin A Deficiency; Heart Defects, Congenital|Tetralogy of Fallot; hypertension; drug-related genes ; schizophrenia; Tobacco Use Disorder Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. RA biosynthesis pathway GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0001889;liver development;IEA|GO:0001936;regulation of endothelial cell proliferation;IEA|GO:0002138;retinoic acid biosynthetic process;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006776;vitamin A metabolic process;NAS|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009855;determination of bilateral symmetry;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0021915;neural tube development;IMP|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0030902;hindbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0034097;response to cytokine;IDA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035799;ureter maturation;IEA|GO:0042572;retinol metabolic process;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0042574;retinal metabolic process;IEA|GO:0042904;9-cis-retinoic acid biosynthetic process;IEA|GO:0043010;camera-type eye development;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060324;face development;IEA|GO:0071300;cellular response to retinoic acid;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001758;retinal dehydrogenase activity;TAS|GO:0004028;3-chloroallyl aldehyde dehydrogenase activity;IEA|GO:0004029;aldehyde dehydrogenase (NAD) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016918;retinal binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALDH1A2 https://www.uniprot.org/uniprot/O94788 https://www.ncbi.nlm.nih.gov/omim/?term=603687 http://www.informatics.jax.org/searchtool/Search.do?query=ALDH1A2&submit=Quick%0D%6196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH1A2 rs3784259 0.36901 0 0 1 0 0 intronic intronic intronic ALDH1A2 ALDH1A2 ENSG00000128918 Na Na Na Na Na Na Het;C>T 284;27|12 Het;C>T 346;7|14 Hom;C>T 653;0|19 N N - 15 58465483 58465483 C T snp intronic AQP9 Aqp9 ENSG00000103569 aquaporin 9 chr15:58430368-58478110 The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Hyperparathyroidism, Secondary; Tobacco Use Disorder; Cholesterol, HDL; Bone Mineral Density Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. Passive transport by Aquaporins GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0006863;purine nucleobase transport;IDA|GO:0006955;immune response;TAS|GO:0006970;response to osmotic stress;TAS|GO:0007588;excretion;TAS|GO:0008152;metabolic process;TAS|GO:0010033;response to organic substance;IDA|GO:0015722;canalicular bile acid transport;IEA|GO:0015791;polyol transport;IDA|GO:0015793;glycerol transport;TAS|GO:0015837;amine transport;IDA|GO:0015855;pyrimidine nucleobase transport;IDA|GO:0030104;water homeostasis;NAS|GO:0046689;response to mercury ion;IDA|GO:0046942;carboxylic acid transport;TAS|GO:0055085;transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEP|GO:0071918;urea transmembrane transport;IEA|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA|GO:1905039;carboxylic acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0006863;purine nucleobase transport;IDA|GO:0006955;immune response;TAS|GO:0006970;response to osmotic stress;TAS|GO:0007588;excretion;TAS|GO:0008152;metabolic process;TAS|GO:0010033;response to organic substance;IDA|GO:0015722;canalicular bile acid transport;IEA|GO:0015791;polyol transport;IDA|GO:0015793;glycerol transport;TAS|GO:0015837;amine transport;IDA|GO:0015855;pyrimidine nucleobase transport;IDA|GO:0030104;water homeostasis;NAS|GO:0046689;response to mercury ion;IDA|GO:0046942;carboxylic acid transport;TAS|GO:0055085;transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEP|GO:0071918;urea transmembrane transport;IEA|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA|GO:1905039;carboxylic acid transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005215;transporter activity;IEA|GO:0005275;amine transmembrane transporter activity;TAS|GO:0005345;purine nucleobase transmembrane transporter activity;IDA|GO:0005350;pyrimidine nucleobase transmembrane transporter activity;IDA|GO:0005372;water transmembrane transporter activity;TAS|GO:0015166;polyol transmembrane transporter activity;TAS|GO:0015250;water channel activity;IDA|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP|GO:0015288;porin activity;NAS|GO:0046943;carboxylic acid transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AQP9 https://www.uniprot.org/uniprot/O43315 https://www.ncbi.nlm.nih.gov/omim/?term=602914 http://www.informatics.jax.org/searchtool/Search.do?query=AQP9&submit=Quick%0D%99ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP9 rs2292713 0.79353 0 0 1 0 0 intronic intronic intronic AQP9 ALDH1A2,AQP9 ENSG00000103569,ENSG00000128918 Na Na Na Na Na Na Het;C>T 98;7|4 Het;C>T 193;10|8 Hom;C>T 431;0|14 N N - 15 58471626 58471626 G A snp intronic AQP9 Aqp9 ENSG00000103569 aquaporin 9 chr15:58430368-58478110 The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Hyperparathyroidism, Secondary; Tobacco Use Disorder; Cholesterol, HDL; Bone Mineral Density Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. Passive transport by Aquaporins GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0006863;purine nucleobase transport;IDA|GO:0006955;immune response;TAS|GO:0006970;response to osmotic stress;TAS|GO:0007588;excretion;TAS|GO:0008152;metabolic process;TAS|GO:0010033;response to organic substance;IDA|GO:0015722;canalicular bile acid transport;IEA|GO:0015791;polyol transport;IDA|GO:0015793;glycerol transport;TAS|GO:0015837;amine transport;IDA|GO:0015855;pyrimidine nucleobase transport;IDA|GO:0030104;water homeostasis;NAS|GO:0046689;response to mercury ion;IDA|GO:0046942;carboxylic acid transport;TAS|GO:0055085;transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEP|GO:0071918;urea transmembrane transport;IEA|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA|GO:1905039;carboxylic acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0006863;purine nucleobase transport;IDA|GO:0006955;immune response;TAS|GO:0006970;response to osmotic stress;TAS|GO:0007588;excretion;TAS|GO:0008152;metabolic process;TAS|GO:0010033;response to organic substance;IDA|GO:0015722;canalicular bile acid transport;IEA|GO:0015791;polyol transport;IDA|GO:0015793;glycerol transport;TAS|GO:0015837;amine transport;IDA|GO:0015855;pyrimidine nucleobase transport;IDA|GO:0030104;water homeostasis;NAS|GO:0046689;response to mercury ion;IDA|GO:0046942;carboxylic acid transport;TAS|GO:0055085;transmembrane transport;IEA|GO:0071320;cellular response to cAMP;IEP|GO:0071918;urea transmembrane transport;IEA|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA|GO:1905039;carboxylic acid transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005215;transporter activity;IEA|GO:0005275;amine transmembrane transporter activity;TAS|GO:0005345;purine nucleobase transmembrane transporter activity;IDA|GO:0005350;pyrimidine nucleobase transmembrane transporter activity;IDA|GO:0005372;water transmembrane transporter activity;TAS|GO:0015166;polyol transmembrane transporter activity;TAS|GO:0015250;water channel activity;IDA|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP|GO:0015288;porin activity;NAS|GO:0046943;carboxylic acid transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AQP9 https://www.uniprot.org/uniprot/O43315 https://www.ncbi.nlm.nih.gov/omim/?term=602914 http://www.informatics.jax.org/searchtool/Search.do?query=AQP9&submit=Quick%0D%99ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP9 rs17821117 0.110823 0 0 1 0 0 intronic intronic intronic AQP9 ALDH1A2,AQP9 ENSG00000103569,ENSG00000128918 Na Na Na Na Na Na Het;G>A 149;4|7 Ref Hom;G>A 222;0|6 N N - 15 58727279 58727279 T C snp ncRNA_exonic LOC101928694 rs261333 0.323882 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC101928694 AX747251(uc002afb.1:c.*1599A>G) ENSG00000259293 Na Na Na Na Na Na Het;T>C 1112;43|46 Het;T>C 1081;29|44 Hom;T>C 2244;0|78 N N - 15 58729144 58729144 C T snp ncRNA_intronic LIPC-AS1 rs17190517 0.252196 0 0.4263 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928694 AX747251,LIPC ENSG00000259293 Na Na Na Na Na Na Het;C>T 516;16|18 Ref Hom;C>T 539;0|20 N N - 15 59707746 59707746 G C snp intronic FAM81A Fam81a ENSG00000157470 family with sequence similarity 81 member A chr15:59664892-59815748 http://www.genecards.org/index.php?path=/Search/keyword/FAM81A http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A rs744416 0.374401 0 0 1 0 0 intergenic intergenic intronic MYO1E(dist=42675),FAM81A(dist=22626) MYO1E(dist=42675),FAM81A(dist=22626) ENSG00000157470 Na Na Na Na Na Na Het;G>C 491;31|22 Het;G>C 214;18|12 Hom;G>C 1449;0|54 N N - 15 59784648 59784648 A G snp intronic FAM81A Fam81a ENSG00000157470 family with sequence similarity 81 member A chr15:59664892-59815748 http://www.genecards.org/index.php?path=/Search/keyword/FAM81A http://www.informatics.jax.org/searchtool/Search.do?query=FAM81A&submit=Quick%0D%10097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM81A rs4417505 0.561102 0 0 1 0 0 intronic intronic intronic FAM81A FAM81A ENSG00000157470 Na Na Na Na Na Na Het;A>G 232;8|10 Het;A>G 518;18|20 Hom;A>G 1198;0|38 N N - 15 60081640 60081640 C G snp intergenic BNIP2 Bnip2 ENSG00000140299 BCL2 interacting protein 2 chr15:59951345-59981733 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Narcolepsy; Arteries; Chronic renal failure|Kidney Failure, Chronic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's CDO in myogenesis GO:0001824;blastocyst development;IEA|GO:0006915;apoptotic process;IPI|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005096;GTPase activator activity;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/BNIP2 https://www.uniprot.org/uniprot/Q12982 https://www.ncbi.nlm.nih.gov/omim/?term=603292 http://www.informatics.jax.org/searchtool/Search.do?query=BNIP2&submit=Quick%0D%7999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BNIP2 rs4775210 0.722045 0 0 1 0 0 intergenic intergenic intergenic BNIP2(dist=99998),FOXB1(dist=214781) BNIP2(dist=99998),FOXB1(dist=214781) ENSG00000234797(dist=20293),ENSG00000259601(dist=82070) Na Na Na Na Na Na Het;C>G 152;5|8 Ref Hom;C>G 622;0|24 N N - 15 60678087 60678088 AT A indel intronic ANXA2 Anxa2 ENSG00000182718 annexin A2 chr15:60639333-60695082 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; osteonecrosis; prostate cancer; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions in this gene are viable and fertile but suffer from growth deficits, impaired angiogenesis, and increased susceptibility to thrombosis. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0001525;angiogenesis;IEP|GO:0001765;membrane raft assembly;IMP|GO:0001921;positive regulation of receptor recycling;IDA|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0006900;membrane budding;IMP|GO:0007589;body fluid secretion;IEA|GO:0030199;collagen fibril organization;IEA|GO:0031340;positive regulation of vesicle fusion;IDA|GO:0032804;negative regulation of low-density lipoprotein particle receptor catabolic process;IDA|GO:0036035;osteoclast development;IDA|GO:0042730;fibrinolysis;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044090;positive regulation of vacuole organization;IMP|GO:0044147;negative regulation of development of symbiont involved in interaction with host;IMP|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0051099;positive regulation of binding;IEA|GO:0051290;protein heterotetramerization;IDA|GO:0052362;catabolism by host of symbiont protein;IMP|GO:0052405;negative regulation by host of symbiont molecular function;IMP|GO:0072661;protein targeting to plasma membrane;IEA|GO:0097066;response to thyroid hormone;IEA|GO:0098609;cell-cell adhesion;IEA|GO:1905581;positive regulation of low-density lipoprotein particle clearance;IDA|GO:1905597;positive regulation of low-density lipoprotein particle receptor binding;IDA|GO:1905599;positive regulation of low-density lipoprotein receptor activity;IMP|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IDA GO:0001726;ruffle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005938;cell cortex;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016323;basolateral plasma membrane;ISS|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0030496;midbody;IDA|GO:0031012;extracellular matrix;ISS|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0035749;myelin sheath adaxonal region;IEA|GO:0042383;sarcolemma;IEA|GO:0042470;melanosome;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0043234;protein complex;IEA|GO:0044354;macropinosome;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:1990667;PCSK9-AnxA2 complex;IDA GO:0002020;protease binding;IPI|GO:0003723;RNA binding;IDA|GO:0004859;phospholipase inhibitor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IMP|GO:0008092;cytoskeletal protein binding;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0019834;phospholipase A2 inhibitor activity;IDA|GO:0030546;receptor activator activity;IDA|GO:0042802;identical protein binding;IPI|GO:0044548;S100 protein binding;IPI|GO:0048306;calcium-dependent protein binding;IPI|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANXA2 https://www.ncbi.nlm.nih.gov/omim/?term=151740 http://www.informatics.jax.org/searchtool/Search.do?query=ANXA2&submit=Quick%0D%14844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA2 rs3833016 0.550719 0 0 1 0 0 intronic intronic intronic ANXA2 ANXA2 ENSG00000182718 Na Na Na Na Na Na Het;-T 627;19|21 Het;-T 202;12|8 Hom;-T 1735;0|48 N N - 15 60748783 60748785 TAC T indel intronic ICE2 Ice2 rs368911245 0 0 0 1 0 0 intronic intronic intronic ICE2 NARG2 ENSG00000128915 Na Na Na Na Na Na Het;-AC 918;3|9 Ref Hom;-AC 330;1|7 N N - 15 60812086 60812086 T C snp ncRNA_intronic BC035094 rs6494204 0.343251 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic RORA-AS1 BC035094 ENSG00000245534 Na Na Na Na Na Na Het;T>C 59;7|3 Ref Hom;T>C 560;0|17 N N - 15 62211450 62211450 G A snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs963024 0.673123 0.6128 0.6036 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;G>A 353;18|14 Ref Hom;G>A 1051;0|36 N N - 15 62221592 62221592 A C snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs28411984 0.747005 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;A>C 60;5|3 Ref Hom;A>C 178;0|5 N N - 15 62228696 62228696 G C snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs11071641 0.444888 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;G>C 388;5|13 Ref Hom;G>C 393;0|12 N N - 15 62238231 62238231 G A snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs2113932 0.432508 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;G>A 59;5|3 Ref Hom;G>A 242;0|7 N N - 15 62238784 62238784 T A snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs8028217 0.433307 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;T>A 60;7|3 Ref Hom;T>A 516;0|15 N N - 15 62239304 62239304 A T snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs7166891 0.674121 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;A>T 138;5|5 Ref Hom;A>T 432;0|16 N N - 15 62241962 62241962 C T snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs4587915 0.654353 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;C>T 105;3|4 Ref Hom;C>T 654;0|20 N N - 15 62244281 62244281 C G snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs17238252 0.422524 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;C>G 427;22|16 Ref Hom;C>G 1807;0|53 N N - 15 62246864 62246864 G A snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs12899801 0.53734 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;G>A 139;6|5 Ref Hom;G>A 248;0|7 N N - 15 62255172 62255172 A G snp intronic VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs17304010 0.480431 0 0 1 0 0 intronic intronic intronic VPS13C VPS13C ENSG00000129003 Na Na Na Na Na Na Het;A>G 379;5|12 Ref Hom;A>G 686;0|21 N N - 15 62259637 62259637 C T snp nonsynonymous SNV G2792A R931K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs3784634 0.755391 0.6677 0.6288 0.08 1 13 exonic exonic exonic VPS13C VPS13C ENSG00000129003 nonsynonymous SNV nonsynonymous SNV unknown VPS13C:NM_018080:exon27:c.G2792A:p.R931K,VPS13C:NM_017684:exon27:c.G2792A:p.R931K,VPS13C:NM_001018088:exon29:c.G2921A:p.R974K,VPS13C:NM_020821:exon29:c.G2921A:p.R974K, VPS13C:uc002ahc.2:exon27:c.G2792A:p.R931K,VPS13C:uc002agz.3:exon29:c.G2921A:p.R974K,VPS13C:uc002ahb.2:exon29:c.G2921A:p.R974K,VPS13C:uc002aha.3:exon27:c.G2792A:p.R931K, UNKNOWN Het;C>T 853;34|41 Ref Hom;C>T 3580;0|139 N N - 15 62495680 62495680 T C snp upstream AC126323.2 rs12594221 0.245208 0 0 1 0 0 intergenic intergenic upstream C2CD4B(dist=38198),MIR8067(dist=101177) C2CD4B(dist=38198),DQ578136(dist=17290) ENSG00000259697 Na Na Na Na Na Na Het;T>C 323;6|15 Ref Hom;T>C 426;0|18 N N - 15 62930243 62930243 A C snp ncRNA_exonic MGC15885 rs6494333 0.32508 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 MGC15885 MGC15885 ENSG00000259458(ENST00000558940:c.*483T>G,ENST00000560347:c.*586T>G) Na Na Na Na Na Na Het;A>C 1675;62|72 Het;A>C 1161;122|59 Hom;A>C 3832;3|142 N N - 15 63448554 63448554 C G snp intronic RPS27L Rps27l ENSG00000185088 ribosomal protein S27 like chr15:63418071-63450220 This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit complete postnatal lethality, decreased body weight, hypoplasia of the thymus cortex and liver, and decreased HSC numbers and function. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000028;ribosomal small subunit assembly;IBA|GO:0006281;DNA repair;IMP|GO:0006412;translation;IDA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031571;mitotic G1 DNA damage checkpoint;IMP|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0045727;positive regulation of translation;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005840;ribosome;IEA|GO:0022627;cytosolic small ribosomal subunit;IBA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0008494;translation activator activity;IDA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPS27L https://www.ncbi.nlm.nih.gov/omim/?term=612055 http://www.informatics.jax.org/searchtool/Search.do?query=RPS27L&submit=Quick%0D%15340ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS27L rs8025816 0.04373 0 0 1 0 0 intronic intronic intronic RPS27L RPS27L ENSG00000185088 Na Na Na Na Na Na Het;C>G 387;25|16 Ref Hom;C>G 1061;0|35 N N - 15 63551808 63551808 T C snp intronic RAB8B Rab8b ENSG00000166128 RAB8B, member RAS oncogene family chr15:63481668-63559981 RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit no overt abnormalities and normal survival. RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006904;vesicle docking involved in exocytosis;IBA|GO:0009306;protein secretion;IBA|GO:0015031;protein transport;IEA|GO:0019882;antigen processing and presentation;IMP|GO:0031346;positive regulation of cell projection organization;IEA|GO:0034332;adherens junction organization;IEA|GO:0045046;protein import into peroxisome membrane;IDA|GO:0051461;positive regulation of corticotropin secretion;IEA|GO:0061024;membrane organization;TAS|GO:0072659;protein localization to plasma membrane;IBA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IBA|GO:0005778;peroxisomal membrane;IDA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0051286;cell tip;IEA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;NAS|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0030911;TPR domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB8B https://www.ncbi.nlm.nih.gov/omim/?term=613532 http://www.informatics.jax.org/searchtool/Search.do?query=RAB8B&submit=Quick%0D%11699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB8B rs36038234 0.0369409 0.0678 0.0704 1 0 0 intronic intronic intronic RAB8B RAB8B ENSG00000166128 Na Na Na Na Na Na Het;T>C 941;34|43 Ref Hom;T>C 1605;0|55 N N - 15 63554820 63554822 ATG A indel intronic RAB8B Rab8b ENSG00000166128 RAB8B, member RAS oncogene family chr15:63481668-63559981 RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit no overt abnormalities and normal survival. RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006904;vesicle docking involved in exocytosis;IBA|GO:0009306;protein secretion;IBA|GO:0015031;protein transport;IEA|GO:0019882;antigen processing and presentation;IMP|GO:0031346;positive regulation of cell projection organization;IEA|GO:0034332;adherens junction organization;IEA|GO:0045046;protein import into peroxisome membrane;IDA|GO:0051461;positive regulation of corticotropin secretion;IEA|GO:0061024;membrane organization;TAS|GO:0072659;protein localization to plasma membrane;IBA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IBA|GO:0005778;peroxisomal membrane;IDA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0051286;cell tip;IEA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;NAS|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0030911;TPR domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB8B https://www.ncbi.nlm.nih.gov/omim/?term=613532 http://www.informatics.jax.org/searchtool/Search.do?query=RAB8B&submit=Quick%0D%11699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB8B rs142261551 0 0.6827 0 1 0 0 intronic intronic intronic RAB8B RAB8B ENSG00000166128 Na Na Na Na Na Na Het;-TG 93;3|4 Ref Hom;-TG 331;0|11 N N - 15 63579780 63579780 T C snp intronic APH1B Aph1b ENSG00000138613 aph-1 homolog B, gamma-secretase subunit chr15:63568217-63601325 This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011] Alzheimer's disease; HIV Infections; Alzheimer's disease ; Coronary Artery Disease Homozygous null mice are viable and fertile and do not show any significant aberrations in the brain, kidney, or testis. EPH-ephrin mediated repulsion of cells GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0016485;protein processing;IEA|GO:0031293;membrane protein intracellular domain proteolysis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005783;endoplasmic reticulum;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030133;transport vesicle;IDA|GO:0070765;gamma-secretase complex;IBA GO:0004175;endopeptidase activity;IBA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/APH1B https://www.uniprot.org/uniprot/Q8WW43 https://www.ncbi.nlm.nih.gov/omim/?term=607630 http://www.informatics.jax.org/searchtool/Search.do?query=APH1B&submit=Quick%0D%7751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APH1B rs36011035 0.0391374 0.0691 0.0718 1 0 0 intronic intronic intronic APH1B APH1B ENSG00000138613 Na Na Na Na Na Na Het;T>C 630;50|29 Ref Hom;T>C 2708;2|93 N N - 15 63615016 63615016 T C snp UTR3 *3468A>G CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs12902541 0.0429313 0 0 1 0 0 downstream downstream UTR3 CA12 CA12 ENSG00000074410(ENST00000178638:c.*3468A>G) Na Na Na Na Na Na Het;T>C 3159;106|130 Ref Hom;T>C 6774;6|237 N N - 15 63615671 63615671 G C snp UTR3 *2813C>G CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs34704344 0.0301518 0 0 1 0 0 downstream downstream UTR3 CA12 CA12 ENSG00000074410(ENST00000178638:c.*2813C>G) Na Na Na Na Na Na Het;G>C 1074;56|43 Ref Hom;G>C 1923;0|66 N N - 15 63615764 63615764 C T snp UTR3 *2720G>A CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs1127203 0.14397 0 0 1 0 0 UTR3 UTR3 UTR3 CA12(NM_001218:c.*2720G>A,NM_206925:c.*2720G>A,NM_001293642:c.*2720G>A) CA12(uc002amc.3:c.*2720G>A,uc002amd.3:c.*2720G>A,uc002ame.3:c.*2720G>A) ENSG00000074410(ENST00000178638:c.*2720G>A) Na Na Na Na Na Na Het;C>T 913;63|40 Ref Hom;C>T 1824;0|63 N N - 15 63616561 63616561 A T snp UTR3 *1923T>A CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs61732378 0.0239617 0 0 1 0 0 UTR3 UTR3 UTR3 CA12(NM_001218:c.*1923T>A,NM_206925:c.*1923T>A,NM_001293642:c.*1923T>A) CA12(uc002amc.3:c.*1923T>A,uc002amd.3:c.*1923T>A,uc002ame.3:c.*1923T>A) ENSG00000074410(ENST00000178638:c.*1923T>A) Na Na Na Na Na Na Het;A>T 1894;103|80 Ref Hom;A>T 4940;4|182 N N - 15 63618032 63618032 G A snp UTR3 *452C>T CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs11556745 0.0301518 0 0 1 0 0 UTR3 UTR3 UTR3 CA12(NM_001218:c.*452C>T,NM_206925:c.*452C>T,NM_001293642:c.*452C>T) CA12(uc002amc.3:c.*452C>T,uc002amd.3:c.*452C>T,uc002ame.3:c.*452C>T) ENSG00000074410(ENST00000178638:c.*452C>T,ENST00000344366:c.*452C>T,ENST00000422263:c.*452C>T) Na Na Na Na Na Na Het;G>A 2010;109|94 Ref Hom;G>A 4099;2|147 N N - 15 63618250 63618250 G A snp UTR3 *234C>T CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs11556746 0.0301518 0 0 1 0 0 UTR3 UTR3 UTR3 CA12(NM_001218:c.*234C>T,NM_206925:c.*234C>T,NM_001293642:c.*234C>T) CA12(uc002amc.3:c.*234C>T,uc002amd.3:c.*234C>T,uc002ame.3:c.*234C>T) ENSG00000074410(ENST00000178638:c.*234C>T,ENST00000344366:c.*234C>T,ENST00000422263:c.*234C>T) Na Na Na Na Na Na Het;G>A 1582;83|71 Ref Hom;G>A 3723;0|128 N N - 15 63630891 63630891 C T snp intronic CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs12911704 0.0301518 0 0 1 0 0 intronic intronic intronic CA12 CA12 ENSG00000074410 Na Na Na Na Na Na Het;C>T 57;7|3 Ref Hom;C>T 312;0|9 N N - 15 63634428 63634428 C T snp intronic CA12 Car12 ENSG00000074410 carbonic anhydrase 12 chr15:63613577-63674360 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] Heart Failure; Stroke Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS|GO:0055064;chloride ion homeostasis;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA12 https://www.uniprot.org/uniprot/O43570 https://hpo.jax.org/app/browse/search?q=CA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603263 http://www.informatics.jax.org/searchtool/Search.do?query=CA12&submit=Quick%0D%1502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA12 rs71394512 0.0303514 0 0 1 0 0 intronic intronic intronic CA12 CA12 ENSG00000074410 Na Na Na Na Na Na Het;C>T 162;9|6 Ref Hom;C>T 205;0|6 N N - 15 63848805 63848805 C G snp ncRNA_intronic USP3-AS1 rs3751043 0.671925 0 0 1 0 0 intronic intronic ncRNA_intronic USP3 USP3 ENSG00000259248 Na Na Na Na Na Na Het;C>G 125;6|7 Het;C>G 38;7|4 Hom;C>G 320;0|9 N N - 15 63884462 63884462 T C snp ncRNA_intronic USP3-AS1 rs8023506 0.505391 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic USP3-AS1 USP3-AS1 ENSG00000259248 Na Na Na Na Na Na Het;T>C 1493;48|61 Ref Hom;T>C 3233;2|111 N N - 15 63884532 63884533 GT G indel ncRNA_intronic USP3-AS1 rs11311204 0.563698 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic USP3-AS1 USP3-AS1 ENSG00000259248 Na Na Na Na Na Na Het;-T 1523;73|83 Het;-T 1593;84|87 Hom;-T 4167;12|185 N N - 15 63922752 63922752 T A snp synonymous SNV A12879T I4293I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs10851731 0.636781 0.8724 0.7480 1 0 0 exonic exonic exonic HERC1 HERC1 ENSG00000103657 synonymous SNV synonymous SNV unknown HERC1:NM_003922:exon69:c.A12879T:p.I4293I, HERC1:uc002amp.3:exon69:c.A12879T:p.I4293I, UNKNOWN Het;T>A 1445;64|71 Het;T>A 1177;63|56 Hom;T>A 3344;0|127 N N - 15 63937209 63937209 C G snp nonsynonymous SNV G11166C E3722D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs2229749 0.636382 0.8728 0.7471 0.08 1 13 exonic exonic exonic HERC1 HERC1 ENSG00000103657 nonsynonymous SNV nonsynonymous SNV unknown HERC1:NM_003922:exon57:c.G11166C:p.E3722D, HERC1:uc002amp.3:exon57:c.G11166C:p.E3722D, UNKNOWN Het;C>G 1134;42|48 Het;C>G 661;55|33 Hom;C>G 2791;0|101 N N - 15 63953153 63953153 A G snp intronic HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs2272209 0.635583 0.8708 0.7479 1 0 0 intronic intronic intronic HERC1 HERC1 ENSG00000103657 Na Na Na Na Na Na Het;A>G 502;34|25 Het;A>G 358;18|16 Hom;A>G 1443;0|50 N N - 15 63954029 63954029 C T snp synonymous SNV G9093A P3031P hydrophobic,neutral hydrophobic,neutral HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs2228511 0.635383 0.8715 0.7466 1 0 0 exonic exonic exonic HERC1 HERC1 ENSG00000103657 synonymous SNV synonymous SNV unknown HERC1:NM_003922:exon45:c.G9093A:p.P3031P, HERC1:uc002amp.3:exon45:c.G9093A:p.P3031P, UNKNOWN Het;C>T 2102;86|84 Het;C>T 1983;82|86 Hom;C>T 4553;0|159 N N - 15 63958762 63958762 T C snp intronic HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs1815130 0.636182 0 0 1 0 0 intronic intronic intronic HERC1 HERC1 ENSG00000103657 Na Na Na Na Na Na Het;T>C 250;8|10 Het;T>C 118;3|4 Hom;T>C 350;0|11 N N - 15 63987224 63987224 A AG indel ncRNA_intronic AC073167.1 rs36115945 0.635383 0 0 1 0 0 intronic intronic ncRNA_intronic HERC1 HERC1 ENSG00000259589 Na Na Na Na Na Na Het;+G 69;2|3 Het;+G 364;3|11 Hom;+G 205;0|6 N N - 15 63988357 63988357 C G snp nonsynonymous SNV G2039C G680A aliphatic,neutral aliphatic,hydrophobic,neutral HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs2255243 0.635982 0.8716 0.7497 0.23 3 13 exonic exonic exonic HERC1 HERC1 ENSG00000103657 nonsynonymous SNV nonsynonymous SNV unknown HERC1:NM_003922:exon27:c.G5087C:p.G1696A, HERC1:uc010uil.1:exon8:c.G2039C:p.G680A,HERC1:uc002amp.3:exon27:c.G5087C:p.G1696A, UNKNOWN Het;C>G 765;47|36 Het;C>G 492;31|22 Hom;C>G 1760;0|65 N N - 15 64050300 64050300 G A snp intronic HERC1 Herc1 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 chr15:63900817-64126141 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] Iris; null Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration. Antigen processing: Ubiquitination & Proteasome degradation GO:0006810;transport;IEA|GO:0010507;negative regulation of autophagy;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0031175;neuron projection development;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC1 https://www.uniprot.org/uniprot/Q15751 https://hpo.jax.org/app/browse/search?q=HERC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605109 http://www.informatics.jax.org/searchtool/Search.do?query=HERC1&submit=Quick%0D%3050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC1 rs12912999 0.635982 0 0 1 0 0 intronic intronic intronic HERC1 HERC1 ENSG00000103657 Na Na Na Na Na Na Het;G>A 276;10|10 Het;G>A 263;3|9 Hom;G>A 218;0|7 N N - 15 64275356 64275356 A T snp intronic DAPK2 Dapk2 ENSG00000035664 death associated protein kinase 2 chr15:64199235-64364232 This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008] Ligand-independent caspase activation via DCC GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0010506;regulation of autophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043276;anoikis;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0090023;positive regulation of neutrophil chemotaxis;IMP|GO:1990266;neutrophil migration;IEA|GO:2000424;positive regulation of eosinophil chemotaxis;IMP|GO:2001242;regulation of intrinsic apoptotic signaling pathway;IMP GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034423;autophagosome lumen;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DAPK2 https://www.uniprot.org/uniprot/Q9UIK4 https://www.ncbi.nlm.nih.gov/omim/?term=616567 http://www.informatics.jax.org/searchtool/Search.do?query=DAPK2&submit=Quick%0D%772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DAPK2 rs8032653 0.208666 0 0 1 0 0 intronic intronic intronic DAPK2 DAPK2 ENSG00000035664 Na Na Na Na Na Na Het;A>T 85;4|5 Het;A>T 134;3|6 Hom;A>T 71;0|4 N N - 15 65209818 65209818 A G snp intronic ANKDD1A Ankdd1a ENSG00000166839 ankyrin repeat and death domain containing 1A chr15:65204101-65251042 GO:0007165;signal transduction;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKDD1A http://www.informatics.jax.org/searchtool/Search.do?query=ANKDD1A&submit=Quick%0D%11879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKDD1A rs2056496 0.435104 0 0 1 0 0 intronic intronic intronic ANKDD1A ANKDD1A ENSG00000166839,ENSG00000249240 Na Na Na Na Na Na Het;A>G 449;13|15 Het;A>G 357;12|13 Hom;A>G 302;0|9 N N - 15 65236875 65236875 T C snp synonymous SNV T1092C A364A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ANKDD1A Ankdd1a ENSG00000166839 ankyrin repeat and death domain containing 1A chr15:65204101-65251042 GO:0007165;signal transduction;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKDD1A http://www.informatics.jax.org/searchtool/Search.do?query=ANKDD1A&submit=Quick%0D%11879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKDD1A rs2414865 0.552915 0.5471 0.5024 1 0 0 exonic exonic exonic ANKDD1A ANKDD1A ENSG00000166839 synonymous SNV synonymous SNV unknown ANKDD1A:NM_182703:exon12:c.T1092C:p.A364A, ANKDD1A:uc002aoa.3:exon12:c.T1092C:p.A364A, UNKNOWN Het;T>C 1358;44|60 Ref Hom;T>C 2575;0|93 N N - 15 65255704 65255704 C T snp UTR3 *257G>A SPG21 Spg21 ENSG00000090487 SPG21, maspardin chr15:65255362-65282648 The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] MAST SYNDROME GO:0050851;antigen receptor-mediated signaling pathway;IC GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0030140;trans-Golgi network transport vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0042609;CD4 receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPG21 https://www.uniprot.org/uniprot/Q9NZD8 https://hpo.jax.org/app/browse/search?q=SPG21&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608181 http://www.informatics.jax.org/searchtool/Search.do?query=SPG21&submit=Quick%0D%2102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPG21 rs7322 0.454073 0 0 1 0 0 UTR3 UTR3 UTR3 SPG21(NM_016630:c.*257G>A,NM_001127890:c.*257G>A,NM_001127889:c.*257G>A) SPG21(uc002aod.3:c.*257G>A,uc002aoe.3:c.*257G>A,uc010bhb.3:c.*257G>A) ENSG00000090487(ENST00000204566:c.*257G>A,ENST00000433215:c.*257G>A,ENST00000559199:c.*257G>A,ENST00000561078:c.*648G>A,ENST00000416889:c.*257G>A) Na Na Na Na Na Na Het;C>T 703;43|29 Ref Hom;C>T 1452;1|58 N N - 15 65308981 65308981 T A snp intronic MTFMT Mtfmt ENSG00000103707 mitochondrial methionyl-tRNA formyltransferase chr15:65294845-65321977 The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial translation initiation GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0009058;biosynthetic process;IEA|GO:0071951;conversion of methionyl-tRNA to N-formyl-methionyl-tRNA;IEA GO:0005739;mitochondrion;IEA GO:0003824;catalytic activity;IEA|GO:0004479;methionyl-tRNA formyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016742;hydroxymethyl-, formyl- and related transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTFMT https://www.uniprot.org/uniprot/Q96DP5 https://hpo.jax.org/app/browse/search?q=MTFMT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611766 http://www.informatics.jax.org/searchtool/Search.do?query=MTFMT&submit=Quick%0D%3052ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTFMT rs12912782 0.438099 0 0 1 0 0 intronic intronic intronic MTFMT MTFMT ENSG00000103707 Na Na Na Na Na Na Het;T>A 262;11|10 Ref Hom;T>A 445;0|13 N N - 15 65350743 65350743 C G snp intronic RASL12 Rasl12 ENSG00000103710 RAS like family 12 chr15:65345679-65369028 GO:0007165;signal transduction;IEA GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASL12 https://www.uniprot.org/uniprot/Q9NYN1 http://www.informatics.jax.org/searchtool/Search.do?query=RASL12&submit=Quick%0D%3053ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASL12 rs2232759 0.357827 0.3989 0.4212 1 0 0 intronic intronic intronic RASL12 RASL12 ENSG00000103710 Na Na Na Na Na Na Het;C>G 664;22|25 Ref Hom;C>G 1179;0|39 N N - 15 65350968 65350968 T A snp intronic RASL12 Rasl12 ENSG00000103710 RAS like family 12 chr15:65345679-65369028 GO:0007165;signal transduction;IEA GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASL12 https://www.uniprot.org/uniprot/Q9NYN1 http://www.informatics.jax.org/searchtool/Search.do?query=RASL12&submit=Quick%0D%3053ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASL12 rs2232758 0.357428 0.3977 0.4302 1 0 0 intronic intronic intronic RASL12 RASL12 ENSG00000103710 Na Na Na Na Na Na Het;T>A 1023;31|43 Ref Hom;T>A 2226;0|79 N N - 15 65370652 65370652 T C snp UTR3 *122T>C KBTBD13 Kbtbd13 ENSG00000234438 kelch repeat and BTB domain containing 13 chr15:65369154-65372276 The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] Nemaline myopathy 6 Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KBTBD13 https://hpo.jax.org/app/browse/search?q=KBTBD13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613727 http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD13&submit=Quick%0D%19252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD13 rs12901617 0.390775 0 0 1 0 0 UTR3 UTR3 UTR3 KBTBD13(NM_001101362:c.*122T>C) KBTBD13(uc010uis.2:c.*122T>C) ENSG00000234438(ENST00000432196:c.*122T>C) Na Na Na Na Na Na Het;T>C 568;24|22 Ref Hom;T>C 1193;0|40 N N - 15 65371050 65371050 A G snp UTR3 *520A>G KBTBD13 Kbtbd13 ENSG00000234438 kelch repeat and BTB domain containing 13 chr15:65369154-65372276 The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] Nemaline myopathy 6 Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KBTBD13 https://hpo.jax.org/app/browse/search?q=KBTBD13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613727 http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD13&submit=Quick%0D%19252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD13 rs12904843 0.343251 0 0 1 0 0 UTR3 UTR3 UTR3 KBTBD13(NM_001101362:c.*520A>G) KBTBD13(uc010uis.2:c.*520A>G) ENSG00000234438(ENST00000432196:c.*520A>G) Na Na Na Na Na Na Het;A>G 364;10|17 Ref Hom;A>G 435;1|16 N N - 15 65371427 65371427 A G snp UTR3 *897A>G KBTBD13 Kbtbd13 ENSG00000234438 kelch repeat and BTB domain containing 13 chr15:65369154-65372276 The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] Nemaline myopathy 6 Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KBTBD13 https://hpo.jax.org/app/browse/search?q=KBTBD13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613727 http://www.informatics.jax.org/searchtool/Search.do?query=KBTBD13&submit=Quick%0D%19252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KBTBD13 rs12905499 0.383187 0 0 1 0 0 UTR3 UTR3 UTR3 KBTBD13(NM_001101362:c.*897A>G) KBTBD13(uc010uis.2:c.*897A>G) ENSG00000234438(ENST00000432196:c.*897A>G) Na Na Na Na Na Na Het;A>G 455;39|21 Ref Hom;A>G 1664;0|58 N N - 15 66359710 66359710 A C snp intronic MEGF11 Megf11 ENSG00000277848 multiple EGF like domains 11 chr15:66187417-66546085 Neoplasms; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Waist Circumference; Body Mass Index; Body Fat Distribution; Cholesterol; hypertension; Iron; Myocardial Infarction; Coronary Artery Disease Mice homozygous for a targeted allele exhibit abnormal spacing of horizontal cells. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEGF11 https://www.ncbi.nlm.nih.gov/omim/?term=612454 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF11&submit=Quick%0D%21915ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF11 rs11633172 0.167732 0 0 1 0 0 intronic intronic intronic MEGF11 MEGF11 ENSG00000157890 Na Na Na Na Na Na Het;A>C 769;34|38 Ref Hom;A>C 1607;0|58 N N - 15 66612760 66612760 C CA indel ncRNA_intronic AC055855.2 rs112874647 0 0 0 1 0 0 intronic intronic ncRNA_intronic DIS3L DIS3L ENSG00000260773 Na Na Na Na Na Na Het;+A 134;5|8 Ref Hom;+A 122;0|6 N N - 15 66612965 66612965 T C snp synonymous SNV T972C N324N polar,hydrophilic,neutral polar,hydrophilic,neutral DIS3L Dis3l ENSG00000166938 DIS3 like exosome 3'-5' exoribonuclease chr15:66585555-66626236 The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016] Macular Degeneration GO:0006364;rRNA processing;IBA|GO:0016075;rRNA catabolic process;IDA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA GO:0000177;cytoplasmic exosome (RNase complex);IDA|GO:0000178;exosome (RNase complex);IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DIS3L https://www.ncbi.nlm.nih.gov/omim/?term=614183 http://www.informatics.jax.org/searchtool/Search.do?query=DIS3L&submit=Quick%0D%11913ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIS3L rs17851970 0.187899 0.2047 0.2421 1 0 0 exonic exonic exonic DIS3L DIS3L ENSG00000166938 synonymous SNV synonymous SNV unknown DIS3L:NM_133375:exon9:c.T972C:p.N324N,DIS3L:NM_001143688:exon9:c.T1221C:p.N407N, DIS3L:uc002app.3:exon9:c.T972C:p.N324N,DIS3L:uc010ujl.1:exon8:c.T111C:p.N37N,DIS3L:uc010ujm.2:exon9:c.T1221C:p.N407N,DIS3L:uc010bho.3:exon8:c.T819C:p.N273N,DIS3L:uc002apq.2:exon9:c.T1221C:p.N407N, UNKNOWN Het;T>C 1685;73|76 Ref Hom;T>C 4874;0|180 N N - 15 66679601 66679601 G C snp UTR5 -85G>C MAP2K1 Map2k1 ENSG00000169032 mitogen-activated protein kinase kinase 1 chr15:66679155-66784650 The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] Abnormalities, Multiple|Heart Defects, Congenital|LEOPARD Syndrome|Noonan Syndrome|Skin Abnormalities; cognitive ability; Macular Degeneration; Bone Mineral Density; plasma HDL cholesterol (HDL-C) levels; Glioma|Noonan Syndrome|Turner's phenotype, karyotype normal; lung cancer; Abnormalities, Multiple|Ectodermal Dysplasia|Heart Defects, Congenital|Mental Retardation|Syndrome Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration. Paradoxical activation of RAF signaling by kinase inactive BRAF GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006935;chemotaxis;TAS|GO:0007050;cell cycle arrest;IMP|GO:0007165;signal transduction;TAS|GO:0007507;heart development;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010628;positive regulation of gene expression;IMP|GO:0010629;negative regulation of gene expression;IGI|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021697;cerebellar cortex formation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030878;thyroid gland development;IEA|GO:0032872;regulation of stress-activated MAPK cascade;TAS|GO:0035897;proteolysis in other organism;TAS|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0048538;thymus development;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048870;cell motility;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0060020;Bergmann glial cell differentiation;IEA|GO:0060324;face development;IEA|GO:0060425;lung morphogenesis;IEA|GO:0060440;trachea formation;IEA|GO:0060502;epithelial cell proliferation involved in lung morphogenesis;IEA|GO:0060674;placenta blood vessel development;IEA|GO:0060711;labyrinthine layer development;IEA|GO:0070371;ERK1 and ERK2 cascade;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0090170;regulation of Golgi inheritance;TAS|GO:0090398;cellular senescence;IMP|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000641;regulation of early endosome to late endosome transport;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005769;early endosome;TAS|GO:0005770;late endosome;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005816;spindle pole body;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004728;signal transducer, downstream of receptor, with protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IDA|GO:0047485;protein N-terminus binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MAP2K1 https://hpo.jax.org/app/browse/search?q=MAP2K1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176872 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K1&submit=Quick%0D%12402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K1 rs112542693 0.163738 0 0 1 0 0 UTR5 UTR5 UTR5 MAP2K1(NM_002755:c.-85G>C) MAP2K1(uc010bhq.3:c.-85G>C) ENSG00000169032(ENST00000307102:c.-85G>C) Na Na Na Na Na Na Het;G>C 536;20|21 Ref Hom;G>C 1682;0|57 N N - 15 67458930 67458930 C T snp UTR5 -240C>T SMAD3 Smad3 ENSG00000166949 SMAD family member 3 chr15:67356101-67487533 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009] Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Graft vs Host Disease; bone density; Bone Mineral Density; Asthma; colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate; prostate cancer; diabetes, type 1 ; null; Crohn Disease; Tobacco Use Disorder; Alzheimer's disease ; Cleft Lip|Cleft Palate; Coronary Disease; Heart Rate; Osteoarthritis, Hip|Osteoarthritis, Knee; diabetes, type 2; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Hepatopulmonary Syndrome|Liver Cirrhosis; asthma; Pulmonary Disease, Chronic Obstructive; Crohn Disease|Crohn's disease; Body Height; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; bacteremia; Pancreatic Neoplasms; Coronary Artery Disease; epithelial ovarian cancer ; coronary disease; Hypertension, Pulmonary Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis. RUNX3 regulates BCL2L11 (BIM) transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IMP|GO:0001701;in utero embryonic development;IEA|GO:0001707;mesoderm formation;IEA|GO:0001756;somitogenesis;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002076;osteoblast development;IEA|GO:0002520;immune system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006810;transport;IDA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0006955;immune response;IMP|GO:0007050;cell cycle arrest;IMP|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007369;gastrulation;IEA|GO:0007492;endoderm development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010694;positive regulation of alkaline phosphatase activity;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016579;protein deubiquitination;TAS|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030335;positive regulation of cell migration;IEA|GO:0030501;positive regulation of bone mineralization;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030878;thyroid gland development;IEA|GO:0031053;primary miRNA processing;TAS|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0032731;positive regulation of interleukin-1 beta production;IEA|GO:0032909;regulation of transforming growth factor beta2 production;IMP|GO:0032916;positive regulation of transforming growth factor beta3 production;IEA|GO:0032924;activin receptor signaling pathway;IMP|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0038092;nodal signaling pathway;IMP|GO:0042060;wound healing;TAS|GO:0042110;T cell activation;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042993;positive regulation of transcription factor import into nucleus;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045216;cell-cell junction organization;IMP|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048340;paraxial mesoderm morphogenesis;IEA|GO:0048589;developmental growth;IEA|GO:0048617;embryonic foregut morphogenesis;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050776;regulation of immune response;IEA|GO:0050821;protein stabilization;IEA|GO:0050927;positive regulation of positive chemotaxis;IEA|GO:0051098;regulation of binding;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IDA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0051894;positive regulation of focal adhesion assembly;IEA|GO:0060039;pericardium development;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060290;transdifferentiation;IEA|GO:0060395;SMAD protein signal transduction;IEA|GO:0061045;negative regulation of wound healing;IEA|GO:0061767;negative regulation of lung blood pressure;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IMP|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1903243;negative regulation of cardiac muscle hypertrophy in response to stress;IEA GO:0000790;nuclear chromatin;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005637;nuclear inner membrane;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0043234;protein complex;IEA|GO:0043235;receptor complex;IMP|GO:0071141;SMAD protein complex;IDA|GO:0071144;SMAD2-SMAD3 protein complex;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IMP|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0000988;transcription factor activity, protein binding;IDA|GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005160;transforming growth factor beta receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0017151;DEAD/H-box RNA helicase binding;IPI|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0019902;phosphatase binding;IPI|GO:0030618;transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity;IDA|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0031962;mineralocorticoid receptor binding;IPI|GO:0035259;glucocorticoid receptor binding;IPI|GO:0035326;enhancer binding;IC|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IDA|GO:0043425;bHLH transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0070410;co-SMAD binding;IPI|GO:0070412;R-SMAD binding;IPI|GO:0070878;primary miRNA binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMAD3 https://hpo.jax.org/app/browse/search?q=SMAD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603109 http://www.informatics.jax.org/searchtool/Search.do?query=SMAD3&submit=Quick%0D%11917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMAD3 rs7179840 0.710264 0 0 1 0 0 intronic intronic UTR5 SMAD3 SMAD3 ENSG00000166949(ENST00000558827:c.-240C>T,ENST00000558428:c.-240C>T) Na Na Na Na Na Na Het;C>T 35;2|2 Ref Hom;C>T 135;0|5 N N - 15 67528374 67528374 T G snp nonsynonymous SNV A394C I132L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AAGAB Aagab ENSG00000103591 alpha and gamma adaptin binding protein chr15:67493371-67547533 The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] Osteoporosis GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AAGAB https://www.uniprot.org/uniprot/Q6PD74 https://hpo.jax.org/app/browse/search?q=AAGAB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614888 http://www.informatics.jax.org/searchtool/Search.do?query=AAGAB&submit=Quick%0D%3045ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AAGAB rs7173826 0.363419 0.2539 0.3641 0.38 5 13 exonic exonic exonic AAGAB AAGAB ENSG00000103591 nonsynonymous SNV nonsynonymous SNV unknown AAGAB:NM_001271885:exon4:c.A67C:p.I23L,AAGAB:NM_024666:exon4:c.A394C:p.I132L,AAGAB:NM_001271886:exon4:c.A67C:p.I23L, AAGAB:uc002aqk.5:exon4:c.A394C:p.I132L,AAGAB:uc010uju.3:exon4:c.A67C:p.I23L,AAGAB:uc031qsm.1:exon4:c.A67C:p.I23L, UNKNOWN Het;T>G 606;37|29 Ref Hom;T>G 2017;0|76 N N - 15 67835097 67835097 A G snp UTR5 -577A>G MAP2K5 Map2k5 ENSG00000137764 mitogen-activated protein kinase kinase 5 chr15:67835047-68099461 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011] Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; restless legs syndrome; Restless Legs Syndrome; Nocturnal Myoclonus Syndrome|Restless Legs Syndrome|Tourette Syndrome; Body Mass Index Homozygous mutants die at E10.5 and exhibit abnormal cardiac development and a decrease in proliferation and an increase in apoptosis in the heart, head, and dorsal regions of the embryo. Signalling to ERK5 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007507;heart development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030307;positive regulation of cell growth;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;ISS|GO:0034115;negative regulation of heterotypic cell-cell adhesion;ISS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;ISS|GO:0045415;negative regulation of interleukin-8 biosynthetic process;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051247;positive regulation of protein metabolic process;ISS|GO:0060761;negative regulation of response to cytokine stimulus;ISS|GO:0070375;ERK5 cascade;IEA|GO:0071363;cellular response to growth factor stimulus;ISS|GO:0071499;cellular response to laminar fluid shear stress;TAS|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;ISS|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;ISS|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;ISS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP2K5 https://www.uniprot.org/uniprot/Q13163 https://www.ncbi.nlm.nih.gov/omim/?term=602520 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K5&submit=Quick%0D%7596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K5 rs8036625 0.997204 0 0 1 0 0 UTR5 UTR5 UTR5 MAP2K5(NM_002757:c.-577A>G,NM_145160:c.-577A>G) MAP2K5(uc002aqu.3:c.-577A>G,uc002aqv.3:c.-577A>G) ENSG00000137764(ENST00000178640:c.-577A>G) Na Na Na Na Na Na Het;A>G 94;1|5 Ref Hom;A>G 210;0|8 N N - 15 68182443 68182443 C G snp intergenic RNU6-2 rs28540247 0.404752 0 0 1 0 0 intergenic intergenic intergenic RNU6-2(dist=50060),PIAS1(dist=164129) SKOR1(dist=56269),PIAS1(dist=164129) ENSG00000259410(dist=16239),ENSG00000261702(dist=84286) Na Na Na Na Na Na Het;C>G 695;30|33 Ref Hom;C>G 1749;0|65 N N - 15 69097606 69097606 G A snp ncRNA_exonic ANP32A-IT1 rs2958405 0.517572 0 0 1 0 0 ncRNA_exonic UTR3 intronic ANP32A-IT1 ANP32A-IT1(uc010uka.2:c.*1037C>T) ENSG00000140350 Na Na Na Na Na Na Het;G>A 1094;50|46 Ref Hom;G>A 1489;0|53 N N - 15 69112971 69112971 G GCA indel intronic ANP32A Anp32a ENSG00000140350 acidic nuclear phosphoprotein 32 family member A chr15:69070874-69113236 Osteoarthritis, Hip|Osteoarthritis, Knee; Type 2 Diabetes| edema | rosiglitazone Homozygous mutant mice are viable, fertile, behaviorally normal, and show no defects of the central nervous system. HuR (ELAVL1) binds and stabilizes mRNA GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006913;nucleocytoplasmic transport;IDA|GO:0035556;intracellular signal transduction;TAS|GO:0043488;regulation of mRNA stability;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANP32A https://www.uniprot.org/uniprot/P39687 https://www.ncbi.nlm.nih.gov/omim/?term=600832 http://www.informatics.jax.org/searchtool/Search.do?query=ANP32A&submit=Quick%0D%8006ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANP32A rs35802209 0.584665 0.0026 0 1 0 0 intronic intronic intronic ANP32A ANP32A ENSG00000140350 Na Na Na Na Na Na Het;+CA 233;1|8 Ref Hom;+CA 243;0|8 N N - 15 69420205 69420205 C T snp ncRNA_intronic MIR548H4 rs7173025 0.833866 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic MIR548H4 MIR548H4 ENSG00000259222(dist=27930),ENSG00000138604(dist=32768) Na Na Na Na Na Na Het;C>T 35;3|2 Het;C>T 177;2|9 Hom;C>T 120;0|6 N N - 15 69863680 69863680 A G snp ncRNA_exonic DRAIC rs8024167 0.689896 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DRAIC LOC145837 ENSG00000245750 Na Na Na Na Na Na Het;A>G 766;15|33 Het;A>G 469;41|24 Hom;A>G 1986;0|73 N N - 15 69884537 69884538 TG T indel ncRNA_exonic AK097902 rs11353680 0.685104 0 0 1 0 0 upstream ncRNA_exonic ncRNA_exonic PCAT29 AK097902 ENSG00000259641 Na Na Na Na Na Na Het;-G 551;22|19 Het;-G 448;22|16 Hom;-G 1139;0|31 N N - 15 69884727 69884727 G A snp ncRNA_intronic AK097902 rs7162137 0.577676 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PCAT29 AK097902 ENSG00000259641 Na Na Na Na Na Na Het;G>A 282;15|13 Het;G>A 242;13|11 Hom;G>A 622;0|24 N N - 15 70134654 70134654 C G snp ncRNA_exonic LINC00593 rs2601912 0.953474 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00593 LINC00593 ENSG00000259703 Na Na Na Na Na Na Het;C>G 1145;48|50 Het;C>G 670;73|37 Hom;C>G 2609;0|95 N N - 15 70135394 70135398 TCATC T indel ncRNA_exonic LINC00593 rs10565654 0 0 0 1 0 0 downstream downstream ncRNA_exonic LINC00593 LINC00593 ENSG00000259703 Na Na Na Na Na Na Het;-CATC 153;7|5 Het;-CATC 207;3|6 Hom;-CATC 190;0|5 N N - 15 70344616 70344616 A G snp intronic TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs3743310 0.366414 0 0 1 0 0 intronic intronic intronic TLE3 TLE3 ENSG00000140332 Na Na Na Na Na Na Het;A>G 746;20|24 Het;A>G 352;19|15 Hom;A>G 986;0|31 N N - 15 70345356 70345356 G T snp intronic TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs4777225 0.363219 0 0 1 0 0 intronic intronic intronic TLE3 TLE3 ENSG00000140332 Na Na Na Na Na Na Het;G>T 86;4|3 Het;G>T 173;3|5 Hom;G>T 231;0|5 N N - 15 70345360 70345360 G A snp intronic TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs4777226 0.363219 0 0 1 0 0 intronic intronic intronic TLE3 TLE3 ENSG00000140332 Na Na Na Na Na Na Het;G>A 86;4|3 Het;G>A 170;4|5 Hom;G>A 231;0|6 N N - 15 70345626 70345626 C T snp synonymous SNV G1923A T641T polar,hydrophilic,neutral polar,hydrophilic,neutral TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs1057865 0.363019 0.4045 0.4400 1 0 0 exonic exonic exonic TLE3 TLE3 ENSG00000140332 synonymous SNV synonymous SNV unknown TLE3:NM_005078:exon17:c.G1923A:p.T641T,TLE3:NM_001282981:exon17:c.G1893A:p.T631T,TLE3:NM_001282979:exon17:c.G1899A:p.T633T,TLE3:NM_001282982:exon15:c.G1704A:p.T568T,TLE3:NM_001105192:exon17:c.G1914A:p.T638T,TLE3:NM_001282980:exon17:c.G1908A:p.T636T,TLE3:NM_020908:exon17:c.G1887A:p.T629T, TLE3:uc002asp.2:exon17:c.G1899A:p.T633T,TLE3:uc010bil.1:exon17:c.G1914A:p.T638T,TLE3:uc002aso.2:exon17:c.G1908A:p.T636T,TLE3:uc010ukd.1:exon17:c.G1893A:p.T631T,TLE3:uc002asl.2:exon16:c.G1923A:p.T641T,TLE3:uc002asm.2:exon17:c.G1923A:p.T641T,TLE3:uc002ask.2:exon15:c.G1704A:p.T568T,TLE3:uc002asn.2:exon17:c.G1887A:p.T629T, UNKNOWN Het;C>T 2320;75|100 Het;C>T 1217;96|58 Hom;C>T 4471;2|165 N N - 15 70346923 70346923 C T snp synonymous SNV G1689A S563S polar,hydrophilic,neutral polar,hydrophilic,neutral TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs2228178 0.36262 0.4038 0.4285 1 0 0 exonic exonic exonic TLE3 TLE3 ENSG00000140332 synonymous SNV synonymous SNV unknown TLE3:NM_005078:exon16:c.G1689A:p.S563S,TLE3:NM_001282981:exon16:c.G1659A:p.S553S,TLE3:NM_001282979:exon16:c.G1665A:p.S555S,TLE3:NM_001282982:exon14:c.G1470A:p.S490S,TLE3:NM_001105192:exon16:c.G1680A:p.S560S,TLE3:NM_001282980:exon16:c.G1674A:p.S558S,TLE3:NM_020908:exon16:c.G1653A:p.S551S, TLE3:uc002asp.2:exon16:c.G1665A:p.S555S,TLE3:uc010bil.1:exon16:c.G1680A:p.S560S,TLE3:uc002aso.2:exon16:c.G1674A:p.S558S,TLE3:uc010ukd.1:exon16:c.G1659A:p.S553S,TLE3:uc002asl.2:exon15:c.G1689A:p.S563S,TLE3:uc002asm.2:exon16:c.G1689A:p.S563S,TLE3:uc002ask.2:exon14:c.G1470A:p.S490S,TLE3:uc002asn.2:exon16:c.G1653A:p.S551S, UNKNOWN Het;C>T 1508;72|67 Het;C>T 1906;45|82 Hom;C>T 4337;0|158 N N - 15 70349744 70349744 T C snp intronic TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs8036209 0.382188 0 0 1 0 0 intronic intronic intronic TLE3 TLE3 ENSG00000140332 Na Na Na Na Na Na Het;T>C 411;18|15 Het;T>C 337;5|12 Hom;T>C 461;0|16 N N - 15 70351649 70351649 C A snp intronic TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs7176098 0.341653 0 0 1 0 0 intronic intronic intronic TLE3 TLE3 ENSG00000140332 Na Na Na Na Na Na Het;C>A 281;7|11 Het;C>A 134;7|6 Hom;C>A 435;0|15 N N - 15 70351788 70351788 T C snp synonymous SNV A726G G242G aliphatic,neutral aliphatic,neutral TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs2133977 0.674321 0.7048 0.7541 1 0 0 exonic exonic exonic TLE3 TLE3 ENSG00000140332 synonymous SNV synonymous SNV unknown TLE3:NM_005078:exon10:c.A726G:p.G242G,TLE3:NM_001282981:exon10:c.A705G:p.G235G,TLE3:NM_001282979:exon10:c.A726G:p.G242G,TLE3:NM_001282982:exon8:c.A558G:p.G186G,TLE3:NM_001105192:exon10:c.A726G:p.G242G,TLE3:NM_001282980:exon10:c.A726G:p.G242G,TLE3:NM_020908:exon10:c.A726G:p.G242G, TLE3:uc002asp.2:exon10:c.A726G:p.G242G,TLE3:uc010bil.1:exon10:c.A726G:p.G242G,TLE3:uc002aso.2:exon10:c.A726G:p.G242G,TLE3:uc010ukd.1:exon10:c.A705G:p.G235G,TLE3:uc002asl.2:exon9:c.A741G:p.G247G,TLE3:uc002asm.2:exon10:c.A726G:p.G242G,TLE3:uc002ask.2:exon8:c.A558G:p.G186G,TLE3:uc002asn.2:exon10:c.A726G:p.G242G, UNKNOWN Het;T>C 924;48|43 Het;T>C 853;53|44 Hom;T>C 2609;0|98 N N - 15 70589272 70589272 T C snp intergenic TLE3 Tle3 ENSG00000140332 transducin like enhancer of split 3 chr15:70340129-70390515 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Bipolar Disorder; Hip Mice homzoygous for a gene trap allele exhibit embryonic lethality. Repression of WNT target genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLE3 https://www.uniprot.org/uniprot/Q04726 https://www.ncbi.nlm.nih.gov/omim/?term=600190 http://www.informatics.jax.org/searchtool/Search.do?query=TLE3&submit=Quick%0D%8005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE3 rs12148337 0.433107 0 0 1 0 0 intergenic intergenic intergenic TLE3(dist=199016),SALRNA3(dist=318614) Mir_584(dist=81579),UACA(dist=357621) ENSG00000259252(dist=98424),ENSG00000259503(dist=24643) Na Na Na Na Na Na Het;T>C 402;30|21 Ref Hom;T>C 1482;3|58 N N - 15 71457690 71457690 C CAA indel ncRNA_exonic HMGB1P6 rs36042691 0.292931 0 0 1 0 0 intronic intronic ncRNA_exonic THSD4 THSD4 ENSG00000259781 Na Na Na Na Na Na Het;+AA 35;4|2 Ref Hom;+AA 233;0|6 N N - 15 71535458 71535458 G C snp intronic THSD4 Thsd4 ENSG00000187720 thrombospondin type 1 domain containing 4 chr15:71389291-72075722 Pulmonary Disease, Chronic Obstructive; Lipoproteins; smoking cessation; Tobacco Use Disorder; Body Weight; Celiac Disease|; Hemoglobins; pulmonary function; Menopause; Respiratory Function Tests; Osteoporosis, Postmenopausal O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0048251;elastic fiber assembly;IEA GO:0001527;microfibril;IEA|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/THSD4 https://www.ncbi.nlm.nih.gov/omim/?term=614476 http://www.informatics.jax.org/searchtool/Search.do?query=THSD4&submit=Quick%0D%15880ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD4 rs12440013 0.526757 0.4561 0.5200 1 0 0 intronic intronic intronic THSD4 THSD4 ENSG00000187720 Na Na Na Na Na Na Het;G>C 1180;42|55 Het;G>C 836;27|35 Hom;G>C 1739;0|66 N N - 15 72643285 72643285 G T snp ncRNA_exonic BC034424 rs12908883 0.0221645 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic HEXA BC034424 ENSG00000261460 Na Na Na Na Na Na Het;G>T 127;4|5 Ref Hom;G>T 173;0|6 N N - 15 73191920 73191920 G GT indel ncRNA_exonic NPM1P42 rs35174817 0.608626 0 0 1 0 0 intergenic intergenic ncRNA_exonic ADPGK-AS1(dist=101380),NEO1(dist=152905) ADPGK-AS1(dist=101380),NEO1(dist=152905) ENSG00000259259 Na Na Na Na Na Na Het;+T 144;2|8 Het;+T 188;4|10 Hom;+T 295;1|13 N N - 15 73859343 73859344 CT C indel ncRNA_exonic NPTN-IT1 rs10539085 0.193091 0 0 1 0 0 ncRNA_exonic intronic intronic NPTN-IT1 NPTN ENSG00000156642 Na Na Na Na Na Na Het;-T 442;18|36 Ref Hom;-T 667;7|42 N N - 15 74032783 74032783 A G snp synonymous SNV T273C S91S polar,hydrophilic,neutral polar,hydrophilic,neutral C15orf59 6030419C18Rik ENSG00000205363 chromosome 15 open reading frame 59 chr15:74032141-74045088 Body Mass Index; Prostatic Neoplasms; Respiratory Function Tests http://www.genecards.org/index.php?path=/Search/keyword/C15orf59 https://www.ncbi.nlm.nih.gov/omim/?term=617128 http://www.informatics.jax.org/searchtool/Search.do?query=C15orf59&submit=Quick%0D%17507ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C15orf59 rs28594180 0.448083 0.3710 0.4359 1 0 0 exonic exonic exonic C15orf59 C15orf59 ENSG00000205363 synonymous SNV synonymous SNV unknown C15orf59:NM_001303254:exon3:c.T273C:p.S91S,C15orf59:NM_001039614:exon2:c.T357C:p.S119S, C15orf59:uc002avy.3:exon2:c.T357C:p.S119S, UNKNOWN Het;A>G 2648;118|110 Ref Hom;A>G 6754;0|237 N N - 15 74173638 74173638 C G snp intronic TBC1D21 Tbc1d21 ENSG00000167139 TBC1 domain family member 21 chr15:74165949-74181555 GO:0006886;intracellular protein transport;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D21 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D21&submit=Quick%0D%11960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D21 rs7170291 0.251597 0 0 1 0 0 intronic intronic intronic TBC1D21 TBC1D21 ENSG00000167139 Na Na Na Na Na Na Het;C>G 241;4|9 Ref Hom;C>G 568;0|17 N N - 15 74177071 74177071 C A snp intronic TBC1D21 Tbc1d21 ENSG00000167139 TBC1 domain family member 21 chr15:74165949-74181555 GO:0006886;intracellular protein transport;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D21 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D21&submit=Quick%0D%11960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D21 rs72745335 0.106829 0.0922 0.1331 1 0 0 intronic intronic intronic TBC1D21 TBC1D21 ENSG00000167139 Na Na Na Na Na Na Het;C>A 879;26|36 Ref Hom;C>A 1129;0|40 N N - 15 74177553 74177553 G C snp intronic TBC1D21 Tbc1d21 ENSG00000167139 TBC1 domain family member 21 chr15:74165949-74181555 GO:0006886;intracellular protein transport;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D21 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D21&submit=Quick%0D%11960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D21 rs896590 0.620407 0 0 1 0 0 intronic intronic intronic TBC1D21 TBC1D21 ENSG00000167139 Na Na Na Na Na Na Het;G>C 482;20|19 Het;G>C 437;23|17 Hom;G>C 1080;0|34 N N - 15 74179031 74179031 C T snp intronic TBC1D21 Tbc1d21 ENSG00000167139 TBC1 domain family member 21 chr15:74165949-74181555 GO:0006886;intracellular protein transport;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D21 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D21&submit=Quick%0D%11960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D21 rs72745338 0.127196 0 0 1 0 0 intronic intronic intronic TBC1D21 TBC1D21 ENSG00000167139 Na Na Na Na Na Na Het;C>T 151;18|9 Ref Hom;C>T 508;0|16 N N - 15 74181073 74181076 TTCC T indel intronic TBC1D21 Tbc1d21 ENSG00000167139 TBC1 domain family member 21 chr15:74165949-74181555 GO:0006886;intracellular protein transport;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D21 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D21&submit=Quick%0D%11960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D21 rs145470804 0.116813 0 0 1 0 0 intronic intronic intronic TBC1D21 TBC1D21 ENSG00000167139 Na Na Na Na Na Na Het;-TCC 41;2|2 Ref Hom;-TCC 98;0|3 N N - 15 74181538 74181538 A G snp UTR3 *96A>G TBC1D21 Tbc1d21 ENSG00000167139 TBC1 domain family member 21 chr15:74165949-74181555 GO:0006886;intracellular protein transport;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0001669;acrosomal vesicle;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D21 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D21&submit=Quick%0D%11960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D21 rs13638 0.116613 0 0 1 0 0 UTR3 UTR3 UTR3 TBC1D21(NM_001286434:c.*96A>G,NM_153356:c.*96A>G) TBC1D21(uc002avz.3:c.*96A>G,uc010ulc.2:c.*96A>G) ENSG00000167139(ENST00000300504:c.*96A>G) Na Na Na Na Na Na Het;A>G 471;10|19 Ref Hom;A>G 881;0|30 N N - 15 74219582 74219582 G A snp nonsynonymous SNV G458A G153D aliphatic,neutral polar,hydrophilic,charged(-) LOXL1 Loxl1 ENSG00000129038 lysyl oxidase like 1 chr15:74218330-74244478 This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016] Aneurysm, Dissecting; Aorta; Cataract|Exfoliation Syndrome|Glaucoma|Glaucoma, Open-Angle; pseudoexfoliation syndrome and glaucoma; normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Exfoliation Syndrome|Glaucoma, Open-Angle|Pigmentation Disorders; Exfoliation Syndrome|Glaucoma, Open-Angle; Glaucoma, Open-Angle; brain aneurysm; Aortic root size; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; glaucoma (exfoliation); Exfoliation Syndrome|Glaucoma; Fetal Membranes, Premature Rupture|Premature Birth|Uterine Prolapse; Exfoliation Syndrome; Exfoliation Syndrome| Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. Crosslinking of collagen fibrils GO:0018277;protein deamination;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035904;aorta development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IDA GO:0005507;copper ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LOXL1 https://www.uniprot.org/uniprot/Q08397 https://www.ncbi.nlm.nih.gov/omim/?term=153456 http://www.informatics.jax.org/searchtool/Search.do?query=LOXL1&submit=Quick%0D%6208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL1 rs3825942 0.247604 0.2182 0.1849 0.31 4 13 exonic exonic exonic LOXL1 LOXL1 ENSG00000129038 nonsynonymous SNV nonsynonymous SNV unknown LOXL1:NM_005576:exon1:c.G458A:p.G153D, LOXL1:uc002awc.1:exon1:c.G458A:p.G153D, UNKNOWN Het;G>A 2177;92|99 Ref Hom;G>A 4328;0|161 N N - 15 74235500 74235500 C T snp intronic LOXL1 Loxl1 ENSG00000129038 lysyl oxidase like 1 chr15:74218330-74244478 This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016] Aneurysm, Dissecting; Aorta; Cataract|Exfoliation Syndrome|Glaucoma|Glaucoma, Open-Angle; pseudoexfoliation syndrome and glaucoma; normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Exfoliation Syndrome|Glaucoma, Open-Angle|Pigmentation Disorders; Exfoliation Syndrome|Glaucoma, Open-Angle; Glaucoma, Open-Angle; brain aneurysm; Aortic root size; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; glaucoma (exfoliation); Exfoliation Syndrome|Glaucoma; Fetal Membranes, Premature Rupture|Premature Birth|Uterine Prolapse; Exfoliation Syndrome; Exfoliation Syndrome| Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. Crosslinking of collagen fibrils GO:0018277;protein deamination;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035904;aorta development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IDA GO:0005507;copper ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LOXL1 https://www.uniprot.org/uniprot/Q08397 https://www.ncbi.nlm.nih.gov/omim/?term=153456 http://www.informatics.jax.org/searchtool/Search.do?query=LOXL1&submit=Quick%0D%6208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL1 rs2304719 0.332867 0 0 1 0 0 intronic intronic intronic LOXL1 LOXL1 ENSG00000129038 Na Na Na Na Na Na Het;C>T 148;2|5 Ref Hom;C>T 201;0|6 N N - 15 74238734 74238734 T C snp intronic LOXL1 Loxl1 ENSG00000129038 lysyl oxidase like 1 chr15:74218330-74244478 This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016] Aneurysm, Dissecting; Aorta; Cataract|Exfoliation Syndrome|Glaucoma|Glaucoma, Open-Angle; pseudoexfoliation syndrome and glaucoma; normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Exfoliation Syndrome|Glaucoma, Open-Angle|Pigmentation Disorders; Exfoliation Syndrome|Glaucoma, Open-Angle; Glaucoma, Open-Angle; brain aneurysm; Aortic root size; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; glaucoma (exfoliation); Exfoliation Syndrome|Glaucoma; Fetal Membranes, Premature Rupture|Premature Birth|Uterine Prolapse; Exfoliation Syndrome; Exfoliation Syndrome| Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. Crosslinking of collagen fibrils GO:0018277;protein deamination;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035904;aorta development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IDA GO:0005507;copper ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LOXL1 https://www.uniprot.org/uniprot/Q08397 https://www.ncbi.nlm.nih.gov/omim/?term=153456 http://www.informatics.jax.org/searchtool/Search.do?query=LOXL1&submit=Quick%0D%6208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL1 rs2304720 0.335663 0.1007 0.2382 1 0 0 intronic intronic intronic LOXL1 LOXL1 ENSG00000129038 Na Na Na Na Na Na Het;T>C 606;32|29 Het;T>C 512;24|23 Hom;T>C 1254;0|45 N N - 15 74244278 74244278 C G snp UTR3 *100C>G LOXL1 Loxl1 ENSG00000129038 lysyl oxidase like 1 chr15:74218330-74244478 This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016] Aneurysm, Dissecting; Aorta; Cataract|Exfoliation Syndrome|Glaucoma|Glaucoma, Open-Angle; pseudoexfoliation syndrome and glaucoma; normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Exfoliation Syndrome|Glaucoma, Open-Angle|Pigmentation Disorders; Exfoliation Syndrome|Glaucoma, Open-Angle; Glaucoma, Open-Angle; brain aneurysm; Aortic root size; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; glaucoma (exfoliation); Exfoliation Syndrome|Glaucoma; Fetal Membranes, Premature Rupture|Premature Birth|Uterine Prolapse; Exfoliation Syndrome; Exfoliation Syndrome| Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. Crosslinking of collagen fibrils GO:0018277;protein deamination;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035904;aorta development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IDA GO:0005507;copper ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LOXL1 https://www.uniprot.org/uniprot/Q08397 https://www.ncbi.nlm.nih.gov/omim/?term=153456 http://www.informatics.jax.org/searchtool/Search.do?query=LOXL1&submit=Quick%0D%6208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL1 rs8818 0.64397 0 0 1 0 0 UTR3 UTR3 UTR3 LOXL1(NM_005576:c.*100C>G) LOXL1(uc002awc.1:c.*100C>G) ENSG00000129038(ENST00000261921:c.*100C>G) Na Na Na Na Na Na Het;C>G 92;20|6 Het;C>G 291;7|12 Hom;C>G 974;0|36 N N - 15 74265363 74265363 T C snp intergenic LOXL1 Loxl1 ENSG00000129038 lysyl oxidase like 1 chr15:74218330-74244478 This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016] Aneurysm, Dissecting; Aorta; Cataract|Exfoliation Syndrome|Glaucoma|Glaucoma, Open-Angle; pseudoexfoliation syndrome and glaucoma; normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Exfoliation Syndrome|Glaucoma, Open-Angle|Pigmentation Disorders; Exfoliation Syndrome|Glaucoma, Open-Angle; Glaucoma, Open-Angle; brain aneurysm; Aortic root size; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left; glaucoma (exfoliation); Exfoliation Syndrome|Glaucoma; Fetal Membranes, Premature Rupture|Premature Birth|Uterine Prolapse; Exfoliation Syndrome; Exfoliation Syndrome| Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. Crosslinking of collagen fibrils GO:0018277;protein deamination;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035904;aorta development;IEA|GO:0055114;oxidation-reduction process;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IDA GO:0005507;copper ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LOXL1 https://www.uniprot.org/uniprot/Q08397 https://www.ncbi.nlm.nih.gov/omim/?term=153456 http://www.informatics.jax.org/searchtool/Search.do?query=LOXL1&submit=Quick%0D%6208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL1 rs28491832 0.107628 0 0 1 0 0 intergenic intergenic intergenic LOXL1(dist=20885),STOML1(dist=10196) LOXL1(dist=20885),STOML1(dist=10196) ENSG00000129038(dist=20885),ENSG00000067221(dist=10184) Na Na Na Na Na Na Het;T>C 32;7|3 Ref Hom;T>C 105;0|4 N N - 15 74276228 74276228 A G snp UTR3 *50T>C STOML1 Stoml1 ENSG00000067221 stomatin like 1 chr15:74275547-74286963 Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons. GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STOML1 https://www.uniprot.org/uniprot/Q9UBI4 https://www.ncbi.nlm.nih.gov/omim/?term=608326 http://www.informatics.jax.org/searchtool/Search.do?query=STOML1&submit=Quick%0D%1249ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STOML1 rs2289413 0.113219 0.0598 0.0573 1 0 0 UTR3 UTR3 UTR3 STOML1(NM_001256676:c.*50T>C,NM_001256675:c.*50T>C,NM_004809:c.*50T>C,NM_001256674:c.*50T>C,NM_001256672:c.*50T>C,NM_001256673:c.*50T>C,NM_001256677:c.*50T>C) STOML1(uc002awe.4:c.*50T>C,uc002awf.4:c.*50T>C,uc010bje.4:c.*50T>C,uc010uld.3:c.*50T>C,uc002awh.4:c.*50T>C,uc002awg.4:c.*50T>C,uc031qsr.1:c.*50T>C) ENSG00000067221(ENST00000316900:c.*50T>C,ENST00000564777:c.*50T>C,ENST00000316911:c.*50T>C,ENST00000561656:c.*50T>C,ENST00000541638:c.*50T>C) Na Na Na Na Na Na Het;A>G 479;7|17 Ref Hom;A>G 762;0|24 N N - 15 74282833 74282833 G GC indel intronic STOML1 Stoml1 ENSG00000067221 stomatin like 1 chr15:74275547-74286963 Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons. GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STOML1 https://www.uniprot.org/uniprot/Q9UBI4 https://www.ncbi.nlm.nih.gov/omim/?term=608326 http://www.informatics.jax.org/searchtool/Search.do?query=STOML1&submit=Quick%0D%1249ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STOML1 rs3214695 0.385783 0.3725 0.3203 1 0 0 intronic intronic intronic STOML1 STOML1 ENSG00000067221 Na Na Na Na Na Na Het;+C 1255;39|41 Het;+C 1142;18|36 Hom;+C 1621;0|45 N N - 15 74356322 74356322 G A snp downstream DNM1P33 rs199848921 0 0 0 1 0 0 intergenic downstream downstream PML(dist=16167),GOLGA6A(dist=5876) DQ587117 ENSG00000260096 Na Na Na Na Na Na Het;G>A 181;15|10 Ref Hom;G>A 162;0|7 N N - 15 74357352 74357352 T C snp intergenic PML Pml ENSG00000140464 promyelocytic leukemia chr15:74287014-74340153 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors. Regulation of PTEN localization GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PML https://www.uniprot.org/uniprot/P29590 https://hpo.jax.org/app/browse/search?q=PML&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102578 http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PML rs28435321 0.260783 0 0 1 0 0 intergenic intergenic intergenic PML(dist=17197),GOLGA6A(dist=4846) DQ587117(dist=1226),GOLGA6A(dist=4846) ENSG00000260096(dist=1226),ENSG00000159289(dist=4846) Na Na Na Na Na Na Het;T>C 308;12|16 Ref Hom;T>C 985;0|34 N N - 15 74476340 74476340 G C snp intronic STRA6 Stra6 ENSG00000137868 stimulated by retinoic acid 6 chr15:74471807-74504608 The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Tobacco Use Disorder; Type 2 diabetes; Anophthalmos|Microphthalmos Male mice homozygous for a gene trap allele exhibit growth retardation. Mice homozygous for a knock-out allele exhibit persistent hyperplastic primary vitreous, shorter inner and outer segment and reduced rod and cone function. The canonical retinoid cycle in rods (twilight vision) GO:0001523;retinoid metabolic process;TAS|GO:0001568;blood vessel development;IMP|GO:0001822;kidney development;IMP|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003281;ventricular septum development;IMP|GO:0006810;transport;IEA|GO:0007507;heart development;IMP|GO:0007612;learning;IMP|GO:0007631;feeding behavior;IMP|GO:0030324;lung development;IMP|GO:0030325;adrenal gland development;IMP|GO:0030540;female genitalia development;IMP|GO:0042297;vocal learning;IMP|GO:0043583;ear development;IMP|GO:0043585;nose morphogenesis;IMP|GO:0048286;lung alveolus development;IMP|GO:0048520;positive regulation of behavior;IMP|GO:0048546;digestive tract morphogenesis;IMP|GO:0048566;embryonic digestive tract development;IMP|GO:0048589;developmental growth;IMP|GO:0048745;smooth muscle tissue development;IMP|GO:0048844;artery morphogenesis;IMP|GO:0050890;cognition;IMP|GO:0050905;neuromuscular process;IMP|GO:0051180;vitamin transport;IEA|GO:0060322;head development;IMP|GO:0060323;head morphogenesis;IMP|GO:0060325;face morphogenesis;IMP|GO:0060426;lung vasculature development;IMP|GO:0060539;diaphragm development;IMP|GO:0060900;embryonic camera-type eye formation;IMP|GO:0061029;eyelid development in camera-type eye;IMP|GO:0061038;uterus morphogenesis;IMP|GO:0061143;alveolar primary septum development;IMP|GO:0061156;pulmonary artery morphogenesis;IMP|GO:0061205;paramesonephric duct development;IMP|GO:0097070;ductus arteriosus closure;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA GO:0004872;receptor activity;IEA|GO:0051183;vitamin transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/STRA6 https://www.uniprot.org/uniprot/Q9BX79 https://hpo.jax.org/app/browse/search?q=STRA6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610745 http://www.informatics.jax.org/searchtool/Search.do?query=STRA6&submit=Quick%0D%7624ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STRA6 rs2277608 0.208067 0.1265 0.1953 1 0 0 intronic intronic intronic STRA6 STRA6 ENSG00000137868 Na Na Na Na Na Na Het;G>C 1282;31|49 Ref Hom;G>C 1665;0|60 N N - 15 75340722 75340722 G A snp intronic PPCDC Ppcdc ENSG00000138621 phosphopantothenoylcysteine decarboxylase chr15:75315896-75409803 Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008] Body Height; Caffeine Coenzyme A biosynthesis GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IDA GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0004633;phosphopantothenoylcysteine decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPCDC https://www.uniprot.org/uniprot/Q96CD2 https://www.ncbi.nlm.nih.gov/omim/?term=609854 http://www.informatics.jax.org/searchtool/Search.do?query=PPCDC&submit=Quick%0D%7755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPCDC rs2304901 0.192492 0 0 1 0 0 intronic intronic intronic PPCDC PPCDC ENSG00000138621 Na Na Na Na Na Na Het;G>A 46;11|3 Ref Hom;G>A 132;0|5 N N - 15 75967814 75967814 A G snp UTR3 *77T>C CSPG4 Cspg4 ENSG00000173546 chondroitin sulfate proteoglycan 4 chr15:75966663-76005189 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CSPG4 https://www.ncbi.nlm.nih.gov/omim/?term=601172 http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4 rs1127646 0.381589 0 0 1 0 0 UTR3 UTR3 UTR3 CSPG4(NM_001897:c.*77T>C) CSPG4(uc002baw.3:c.*77T>C) ENSG00000173546(ENST00000308508:c.*77T>C) Na Na Na Na Na Na Het;A>G 328;9|13 Ref Hom;A>G 234;0|8 N N - 15 75977920 75977920 A G snp synonymous SNV T3912C P1304P hydrophobic,neutral hydrophobic,neutral CSPG4 Cspg4 ENSG00000173546 chondroitin sulfate proteoglycan 4 chr15:75966663-76005189 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CSPG4 https://www.ncbi.nlm.nih.gov/omim/?term=601172 http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4 rs62027240 0.394369 0.4306 0.4891 1 0 0 exonic exonic exonic CSPG4 CSPG4 ENSG00000173546 synonymous SNV synonymous SNV unknown CSPG4:NM_001897:exon4:c.T3912C:p.P1304P, CSPG4:uc002baw.3:exon4:c.T3912C:p.P1304P, UNKNOWN Het;A>G 3129;117|134 Ref Hom;A>G 5330;0|194 N N - 15 75979782 75979782 G T snp synonymous SNV C3624A R1208R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CSPG4 Cspg4 ENSG00000173546 chondroitin sulfate proteoglycan 4 chr15:75966663-76005189 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CSPG4 https://www.ncbi.nlm.nih.gov/omim/?term=601172 http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4 rs8030131 0.384385 0.4598 0.4831 1 0 0 exonic exonic exonic CSPG4 CSPG4 ENSG00000173546 synonymous SNV synonymous SNV unknown CSPG4:NM_001897:exon3:c.C3624A:p.R1208R, CSPG4:uc002baw.3:exon3:c.C3624A:p.R1208R, UNKNOWN Het;G>T 2259;94|95 Ref Hom;G>T 3915;0|142 N N - 15 75980112 75980112 A G snp synonymous SNV T3294C A1098A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CSPG4 Cspg4 ENSG00000173546 chondroitin sulfate proteoglycan 4 chr15:75966663-76005189 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CSPG4 https://www.ncbi.nlm.nih.gov/omim/?term=601172 http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4 rs4414463 0.441294 0.5088 0.5096 1 0 0 exonic exonic exonic CSPG4 CSPG4 ENSG00000173546 synonymous SNV synonymous SNV unknown CSPG4:NM_001897:exon3:c.T3294C:p.A1098A, CSPG4:uc002baw.3:exon3:c.T3294C:p.A1098A, UNKNOWN Het;A>G 2268;124|95 Ref Hom;A>G 5501;2|188 N N - 15 75981507 75981507 A G snp synonymous SNV T1899C G633G aliphatic,neutral aliphatic,neutral CSPG4 Cspg4 ENSG00000173546 chondroitin sulfate proteoglycan 4 chr15:75966663-76005189 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Tobacco Use Disorder Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0000187;activation of MAPK activity;IEA|GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008347;glial cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0048771;tissue remodeling;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA GO:0005576;extracellular region;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CSPG4 https://www.ncbi.nlm.nih.gov/omim/?term=601172 http://www.informatics.jax.org/searchtool/Search.do?query=CSPG4&submit=Quick%0D%13379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSPG4 rs12900539 0.373403 0.4540 0.4758 1 0 0 exonic exonic exonic CSPG4 CSPG4 ENSG00000173546 synonymous SNV synonymous SNV unknown CSPG4:NM_001897:exon3:c.T1899C:p.G633G, CSPG4:uc002baw.3:exon3:c.T1899C:p.G633G, UNKNOWN Het;A>G 990;62|44 Ref Hom;A>G 1812;0|57 N N - 15 76074241 76074241 C A snp ncRNA_intronic AC019294.1 rs1060529 0.710463 0 0 1 0 0 intergenic intronic ncRNA_intronic MIR4313(dist=19585),UBE2Q2(dist=61386) AK302879 ENSG00000187812 Na Na Na Na Na Na Het;C>A 186;4|7 Het;C>A 135;2|5 Hom;C>A 316;0|9 N N - 15 76095396 76095396 T C snp intergenic MIR4313 rs2604404 0.703275 0 0 1 0 0 intergenic intergenic intergenic MIR4313(dist=40740),UBE2Q2(dist=40231) DQ587887(dist=10475),UBE2Q2(dist=40226) ENSG00000261820(dist=10372),ENSG00000252372(dist=14037) Na Na Na Na Na Na Het;T>C 171;10|8 Het;T>C 95;10|6 Hom;T>C 390;0|15 N N - 15 76136768 76136768 C T snp nonsynonymous SNV C74T P25L hydrophobic,neutral aliphatic,hydrophobic,neutral UBE2Q2 Ube2q2 ENSG00000140367 ubiquitin conjugating enzyme E2 Q2 chr15:76135622-76193419 Cystatin C; Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;TAS|GO:0070936;protein K48-linked ubiquitination;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UBE2Q2 https://www.uniprot.org/uniprot/Q8WVN8 https://www.ncbi.nlm.nih.gov/omim/?term=612501 http://www.informatics.jax.org/searchtool/Search.do?query=UBE2Q2&submit=Quick%0D%8008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2Q2 rs72734531 0.197284 0.1004 0.1990 0.18 2 11 exonic exonic exonic UBE2Q2 UBE2Q2 ENSG00000140367 nonsynonymous SNV nonsynonymous SNV unknown UBE2Q2:NM_001145335:exon1:c.C74T:p.P25L, UBE2Q2:uc010umn.1:exon1:c.C74T:p.P25L, UNKNOWN Het;C>T 849;43|39 Het;C>T 776;47|37 Hom;C>T 1310;0|48 N N - 15 78557005 78557005 A G snp UTR5 -101A>G DNAJA4 Dnaja4 ENSG00000140403 DnaJ heat shock protein family (Hsp40) member A4 chr15:78556428-78574538 Body Height HSP90 chaperone cycle for steroid hormone receptors (SHR) GO:0006457;protein folding;IEA|GO:0009408;response to heat;IEA|GO:0042026;protein refolding;IDA|GO:0090084;negative regulation of inclusion body assembly;IDA GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031072;heat shock protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DNAJA4 https://www.uniprot.org/uniprot/Q8WW22 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJA4&submit=Quick%0D%8019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJA4 rs28484827 0.796526 0 0 1 0 0 UTR5 UTR5 UTR5 DNAJA4(NM_001130182:c.-101A>G) DNAJA4(uc002bdj.2:c.-101A>G) ENSG00000140403(ENST00000394852:c.-101A>G,ENST00000542636:c.-101A>G) Na Na Na Na Na Na Het;A>G 68;7|3 Het;A>G 161;13|6 Hom;A>G 312;0|10 N N - 15 78558509 78558509 G A snp intronic DNAJA4 Dnaja4 ENSG00000140403 DnaJ heat shock protein family (Hsp40) member A4 chr15:78556428-78574538 Body Height HSP90 chaperone cycle for steroid hormone receptors (SHR) GO:0006457;protein folding;IEA|GO:0009408;response to heat;IEA|GO:0042026;protein refolding;IDA|GO:0090084;negative regulation of inclusion body assembly;IDA GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031072;heat shock protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DNAJA4 https://www.uniprot.org/uniprot/Q8WW22 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJA4&submit=Quick%0D%8019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJA4 rs2037347 0.796725 0.8281 0 1 0 0 intronic intronic intronic DNAJA4 DNAJA4 ENSG00000140403 Na Na Na Na Na Na Het;G>A 440;22|21 Het;G>A 536;16|22 Hom;G>A 748;0|26 N N - 15 79058923 79058923 G A snp synonymous SNV C3330T P1110P hydrophobic,neutral hydrophobic,neutral ADAMTS7 Adamts7 ENSG00000136378 ADAM metallopeptidase with thrombospondin type 1 motif 7 chr15:79051545-79103773 The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016] Coronary Artery Disease; Macular Degeneration; Cardiovascular Diseases; atherosclerosis|myocardial infarction Homozygotes for a null allele show increased lung function parameters, reduced endothelial cell migration and proliferation, increased re-endothelialization and ameliorated neointima formation after carotid artery injury, and increased oval cell activation and biliary fibrosis after liver injury. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0036066;protein O-linked fucosylation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IMP|GO:0071347;cellular response to interleukin-1;IMP|GO:0071356;cellular response to tumor necrosis factor;IMP|GO:0071773;cellular response to BMP stimulus;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS7 https://www.uniprot.org/uniprot/Q9UKP4 https://www.ncbi.nlm.nih.gov/omim/?term=605009 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS7&submit=Quick%0D%7336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS7 rs1809422 0.947684 0.9764 0.9750 1 0 0 exonic exonic exonic ADAMTS7 ADAMTS7 ENSG00000136378 synonymous SNV synonymous SNV unknown ADAMTS7:NM_014272:exon19:c.C3330T:p.P1110P, ADAMTS7:uc002bej.4:exon19:c.C3330T:p.P1110P, UNKNOWN Het;G>A 2770;90|127 Het;G>A 2737;95|122 Hom;G>A 7248;0|273 N N - 15 79231518 79231518 A G snp intronic CTSH Ctsh ENSG00000103811 cathepsin H chr15:79213400-79241916 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. Neutrophil degranulation GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTSH https://www.uniprot.org/uniprot/P09668 https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116820 http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH rs11638844 0.480831 0.5381 0.6064 1 0 0 intronic intronic intronic CTSH CTSH ENSG00000103811 Na Na Na Na Na Na Het;A>G 555;16|26 Het;A>G 372;23|19 Hom;A>G 972;2|38 N N - 15 79231523 79231523 G GA indel intronic CTSH Ctsh ENSG00000103811 cathepsin H chr15:79213400-79241916 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. Neutrophil degranulation GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTSH https://www.uniprot.org/uniprot/P09668 https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116820 http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH rs35398112 0.373802 0.5266 0.5303 1 0 0 intronic intronic intronic CTSH CTSH ENSG00000103811 Na Na Na Na Na Na Het;+A 335;17|20 Het;+A 229;19|16 Hom;+A 697;1|29 N N - 15 79237180 79237180 C A snp UTR3 *18G>T CTSH Ctsh ENSG00000103811 cathepsin H chr15:79213400-79241916 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. Neutrophil degranulation GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTSH https://www.uniprot.org/uniprot/P09668 https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116820 http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH rs1036937 0.38778 0.5702 0.6153 1 0 0 intronic intronic UTR3 CTSH CTSH ENSG00000103811(ENST00000529861:c.*18G>T) Na Na Na Na Na Na Het;C>A 433;18|19 Het;C>A 199;14|9 Hom;C>A 720;0|28 N N - 15 79237247 79237247 C G snp nonsynonymous SNV G77C C26S polar,hydrophobic,neutral polar,hydrophilic,neutral CTSH Ctsh ENSG00000103811 cathepsin H chr15:79213400-79241916 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. Neutrophil degranulation GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTSH https://www.uniprot.org/uniprot/P09668 https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116820 http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH rs1036938 0.38738 0.5825 0.6094 0.08 1 13 exonic exonic exonic CTSH CTSH ENSG00000103811 nonsynonymous SNV nonsynonymous SNV unknown CTSH:NM_004390:exon1:c.G77C:p.C26S, CTSH:uc010ung.1:exon1:c.G77C:p.C26S,CTSH:uc021srk.1:exon1:c.G77C:p.C26S, UNKNOWN Het;C>G 996;45|44 Het;C>G 1191;41|51 Hom;C>G 2318;0|84 N N - 15 79237324 79237324 C A snp UTR5 -1G>T CTSH Ctsh ENSG00000103811 cathepsin H chr15:79213400-79241916 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. Neutrophil degranulation GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTSH https://www.uniprot.org/uniprot/P09668 https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116820 http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH rs1036939 0.396366 0.5962 0.6305 1 0 0 UTR5 UTR5 UTR5 CTSH(NM_004390:c.-1G>T) CTSH(uc021srk.1:c.-1G>T,uc010ung.1:c.-1G>T) ENSG00000103811(ENST00000220166:c.-1G>T,ENST00000525807:c.-1G>T,ENST00000533777:c.-1G>T,ENST00000529861:c.-1G>T) Na Na Na Na Na Na Het;C>A 675;37|31 Het;C>A 929;35|43 Hom;C>A 1504;0|55 N N - 15 79237403 79237405 GGA G indel UTR5 -80_-82delinsC CTSH Ctsh ENSG00000103811 cathepsin H chr15:79213400-79241916 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] type 1 diabetes; bladder cancer; Aging/ Telomere Length; Bipolar Disorder; lung cancer; Diabetes Mellitus, Type 1; lung cancer ; chronic obstructive pulmonary disease; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 1 ; cognitive trait; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. Neutrophil degranulation GO:0001656;metanephros development;ISS|GO:0001913;T cell mediated cytotoxicity;IEA|GO:0002250;adaptive immune response;IEP|GO:0002764;immune response-regulating signaling pathway;IDA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010813;neuropeptide catabolic process;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010952;positive regulation of peptidase activity;IDA|GO:0019882;antigen processing and presentation;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031638;zymogen activation;IDA|GO:0031648;protein destabilization;IMP|GO:0032526;response to retinoic acid;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043129;surfactant homeostasis;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060448;dichotomous subdivision of terminal units involved in lung branching;IEA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0097067;cellular response to thyroid hormone stimulus;IEP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0097208;alveolar lamellar body;IDA|GO:0097486;multivesicular body lumen;TAS|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004177;aminopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0016505;peptidase activator activity involved in apoptotic process;IEA|GO:0016787;hydrolase activity;IEA|GO:0030108;HLA-A specific activating MHC class I receptor activity;IDA|GO:0070324;thyroid hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTSH https://www.uniprot.org/uniprot/P09668 https://hpo.jax.org/app/browse/search?q=CTSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116820 http://www.informatics.jax.org/searchtool/Search.do?query=CTSH&submit=Quick%0D%3058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSH rs142909197 0.954673 0 0 1 0 0 UTR5 UTR5 UTR5 CTSH(NM_004390:c.-80_-82delinsC) CTSH(uc021srk.1:c.-80_-82delinsC,uc010ung.1:c.-80_-82delinsC) ENSG00000103811(ENST00000220166:c.-80_-82delinsC,ENST00000525807:c.81_80delinsC,ENST00000529861:c.-80_-82delinsC) Na Na Na Na Na Na Het;-GA 65;11|5 Het;-GA 182;8|9 Hom;-GA 548;0|13 N N - 15 79432737 79432737 T C snp intergenic RASGRF1 Rasgrf1 ENSG00000058335 Ras protein specific guanine nucleotide releasing factor 1 chr15:79252289-79383115 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009] Metabolism; Electrocardiography; Amyotrophic Lateral Sclerosis; Myopia; Heart Rate; Inflammatory Bowel Diseases; RR interval (heart rate) Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007616;long-term memory;NAS|GO:0008283;cell proliferation;IEA|GO:0031175;neuron projection development;ISS|GO:0035020;regulation of Rac protein signal transduction;ISS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0046578;regulation of Ras protein signal transduction;ISS|GO:0046579;positive regulation of Ras protein signal transduction;TAS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0090630;activation of GTPase activity;ISS|GO:2000310;regulation of NMDA receptor activity;IEA GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;TAS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;NAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0035254;glutamate receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGRF1 https://www.uniprot.org/uniprot/Q13972 https://www.ncbi.nlm.nih.gov/omim/?term=606600 http://www.informatics.jax.org/searchtool/Search.do?query=RASGRF1&submit=Quick%0D%1033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRF1 rs11635757 0.427316 0 0 1 0 0 intergenic intergenic intergenic RASGRF1(dist=49522),ANKRD34C-AS1(dist=51312) RASGRF1(dist=49522),LOC729911(dist=51312) ENSG00000239022(dist=26036),ENSG00000259234(dist=51312) Na Na Na Na Na Na Het;T>C 431;17|13 Het;T>C 319;14|10 Hom;T>C 787;0|20 N N - 15 79432992 79432992 C A snp intergenic RASGRF1 Rasgrf1 ENSG00000058335 Ras protein specific guanine nucleotide releasing factor 1 chr15:79252289-79383115 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009] Metabolism; Electrocardiography; Amyotrophic Lateral Sclerosis; Myopia; Heart Rate; Inflammatory Bowel Diseases; RR interval (heart rate) Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007616;long-term memory;NAS|GO:0008283;cell proliferation;IEA|GO:0031175;neuron projection development;ISS|GO:0035020;regulation of Rac protein signal transduction;ISS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0046578;regulation of Ras protein signal transduction;ISS|GO:0046579;positive regulation of Ras protein signal transduction;TAS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0090630;activation of GTPase activity;ISS|GO:2000310;regulation of NMDA receptor activity;IEA GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;TAS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;NAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0035254;glutamate receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGRF1 https://www.uniprot.org/uniprot/Q13972 https://www.ncbi.nlm.nih.gov/omim/?term=606600 http://www.informatics.jax.org/searchtool/Search.do?query=RASGRF1&submit=Quick%0D%1033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRF1 rs11630571 0.372404 0 0 1 0 0 intergenic intergenic intergenic RASGRF1(dist=49777),ANKRD34C-AS1(dist=51057) RASGRF1(dist=49777),LOC729911(dist=51057) ENSG00000239022(dist=26291),ENSG00000259234(dist=51057) Na Na Na Na Na Na Het;C>A 579;23|25 Het;C>A 554;35|26 Hom;C>A 1284;0|43 N N - 15 79586361 79586361 T C snp synonymous SNV T735C P245P hydrophobic,neutral hydrophobic,neutral ANKRD34C Ankrd34c ENSG00000235711 ankyrin repeat domain 34C chr15:79575146-79590580 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD34C http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD34C&submit=Quick%0D%19357ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD34C rs8038778 0.683706 0 0.6390 1 0 0 exonic exonic exonic ANKRD34C ANKRD34C ENSG00000235711 synonymous SNV synonymous SNV unknown ANKRD34C:NM_001146341:exon2:c.T735C:p.P245P, ANKRD34C:uc002bet.3:exon2:c.T735C:p.P245P,ANKRD34C:uc021srm.1:exon1:c.T735C:p.P245P, UNKNOWN Het;T>C 1682;81|64 Het;T>C 1153;57|48 Hom;T>C 3849;0|133 N N - 15 79645046 79645046 A C snp intronic TMED3 Tmed3 ENSG00000166557 transmembrane p24 trafficking protein 3 chr15:79603404-79704334 Cholesterol; Respiratory Function Tests COPI-dependent Golgi-to-ER retrograde traffic GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030126;COPI vesicle coat;ISS|GO:0030133;transport vesicle;TAS|GO:0030663;COPI-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/TMED3 http://www.informatics.jax.org/searchtool/Search.do?query=TMED3&submit=Quick%0D%11823ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMED3 rs11639145 0.198083 0 0 1 0 0 intronic intronic intronic TMED3 TMED3 ENSG00000166557 Na Na Na Na Na Na Het;A>C 535;11|22 Het;A>C 355;10|16 Hom;A>C 1069;0|37 N N - 15 79755604 79755604 A G snp nonsynonymous SNV A2494G I832V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KIAA1024 AF529169 ENSG00000169330 KIAA1024 chr15:79724858-79764632 Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024 rs2297773 0.254992 0.2755 0.2048 0.08 1 13 exonic exonic exonic KIAA1024 KIAA1024 ENSG00000169330 nonsynonymous SNV nonsynonymous SNV unknown KIAA1024:NM_015206:exon3:c.A2494G:p.I832V, KIAA1024:uc010unk.1:exon2:c.A2494G:p.I832V,KIAA1024:uc002bew.1:exon3:c.A2494G:p.I832V, UNKNOWN Het;A>G 4055;184|180 Het;A>G 4624;227|206 Hom;A>G 10018;1|359 N N - 15 79755685 79755687 GGT G indel intronic KIAA1024 AF529169 ENSG00000169330 KIAA1024 chr15:79724858-79764632 Blood Pressure; Hemoglobin A, Glycosylated; Cholesterol, HDL GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1024 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1024&submit=Quick%0D%12473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1024 rs36086573 0.0978435 0.1209 0.1209 1 0 0 intronic intronic intronic KIAA1024 KIAA1024 ENSG00000169330 Na Na Na Na Na Na Het;-GT 2459;73|68 Het;-GT 2877;90|81 Hom;-GT 5407;0|122 N N - 15 80136462 80136462 T A snp ncRNA_exonic AC021483.2 rs10519253 0.10603 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic MTHFS(NM_001199758:c.*1090A>T,NM_006441:c.*1090A>T),ST20-MTHFS(NM_001199760:c.*1090A>T) MTHFS(uc021srp.1:c.*1090A>T,uc002bex.4:c.*1090A>T,uc021srq.1:c.*1090A>T),ST20-MTHFS(uc021srr.1:c.*1090A>T) ENSG00000261229 Na Na Na Na Na Na Het;T>A 1392;67|57 Het;T>A 1036;77|50 Hom;T>A 4792;0|171 N N - 15 80136772 80136772 C T snp UTR3 *780G>A MTHFS Mthfsl ENSG00000136371 methenyltetrahydrofolate synthetase chr15:80125927-80189721 The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Spinal Dysraphism; Cleft Lip|Cleft Palate; ovarian cancer; colorectal cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lymphoma, non-Hodgkin; Cardiovascular Diseases|Kidney Failure, Chronic; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels. Metabolism of folate and pterines GO:0006536;glutamate metabolic process;IMP|GO:0009396;folic acid-containing compound biosynthetic process;IBA|GO:0015942;formate metabolic process;NAS|GO:0035999;tetrahydrofolate interconversion;IMP|GO:0046653;tetrahydrofolate metabolic process;IDA|GO:0046655;folic acid metabolic process;TAS|GO:0046657;folic acid catabolic process;IMP GO:0005737;cytoplasm;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0005542;folic acid binding;IDA|GO:0016874;ligase activity;IEA|GO:0030272;5-formyltetrahydrofolate cyclo-ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTHFS https://www.uniprot.org/uniprot/P49914 https://hpo.jax.org/app/browse/search?q=MTHFS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604197 http://www.informatics.jax.org/searchtool/Search.do?query=MTHFS&submit=Quick%0D%7335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFS rs11854561 0.291534 0 0 1 0 0 UTR3 UTR3 intronic MTHFS(NM_001199758:c.*780G>A,NM_006441:c.*780G>A),ST20-MTHFS(NM_001199760:c.*780G>A) MTHFS(uc021srp.1:c.*780G>A,uc002bex.4:c.*780G>A,uc021srq.1:c.*780G>A),ST20-MTHFS(uc021srr.1:c.*780G>A) ENSG00000136371 Na Na Na Na Na Na Het;C>T 2043;76|81 Het;C>T 2049;47|82 Hom;C>T 4484;0|162 N N - 15 80189058 80189081 GCGTGCGCGCGCCGGGAGGGGAAA G indel intronic MTHFS Mthfsl ENSG00000136371 methenyltetrahydrofolate synthetase chr15:80125927-80189721 The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Spinal Dysraphism; Cleft Lip|Cleft Palate; ovarian cancer; colorectal cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lymphoma, non-Hodgkin; Cardiovascular Diseases|Kidney Failure, Chronic; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels. Metabolism of folate and pterines GO:0006536;glutamate metabolic process;IMP|GO:0009396;folic acid-containing compound biosynthetic process;IBA|GO:0015942;formate metabolic process;NAS|GO:0035999;tetrahydrofolate interconversion;IMP|GO:0046653;tetrahydrofolate metabolic process;IDA|GO:0046655;folic acid metabolic process;TAS|GO:0046657;folic acid catabolic process;IMP GO:0005737;cytoplasm;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0005542;folic acid binding;IDA|GO:0016874;ligase activity;IEA|GO:0030272;5-formyltetrahydrofolate cyclo-ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTHFS https://www.uniprot.org/uniprot/P49914 https://hpo.jax.org/app/browse/search?q=MTHFS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604197 http://www.informatics.jax.org/searchtool/Search.do?query=MTHFS&submit=Quick%0D%7335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFS rs71874818 0.182907 0 0 1 0 0 intronic intronic intronic MTHFS,ST20-MTHFS MTHFS,ST20-MTHFS ENSG00000136371,ENSG00000259332 Na Na Na Na Na Na Het;-CGTGCGCGCGCCGGGAGGGGAAA 389;12|11 Het;-CGTGCGCGCGCCGGGAGGGGAAA 597;6|16 Hom;-CGTGCGCGCGCCGGGAGGGGAAA 909;0|21 N N - 15 80189398 80189398 C T snp intronic MTHFS Mthfsl ENSG00000136371 methenyltetrahydrofolate synthetase chr15:80125927-80189721 The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Spinal Dysraphism; Cleft Lip|Cleft Palate; ovarian cancer; colorectal cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lymphoma, non-Hodgkin; Cardiovascular Diseases|Kidney Failure, Chronic; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels. Metabolism of folate and pterines GO:0006536;glutamate metabolic process;IMP|GO:0009396;folic acid-containing compound biosynthetic process;IBA|GO:0015942;formate metabolic process;NAS|GO:0035999;tetrahydrofolate interconversion;IMP|GO:0046653;tetrahydrofolate metabolic process;IDA|GO:0046655;folic acid metabolic process;TAS|GO:0046657;folic acid catabolic process;IMP GO:0005737;cytoplasm;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0005542;folic acid binding;IDA|GO:0016874;ligase activity;IEA|GO:0030272;5-formyltetrahydrofolate cyclo-ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTHFS https://www.uniprot.org/uniprot/P49914 https://hpo.jax.org/app/browse/search?q=MTHFS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604197 http://www.informatics.jax.org/searchtool/Search.do?query=MTHFS&submit=Quick%0D%7335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFS rs79182819 0.0810703 0 0 1 0 0 intronic intronic intronic MTHFS,ST20-MTHFS MTHFS,ST20-MTHFS ENSG00000259332 Na Na Na Na Na Na Het;C>T 65;5|3 Het;C>T 351;16|15 Hom;C>T 495;0|20 N N - 15 80189453 80189453 G GC indel intronic MTHFS Mthfsl ENSG00000136371 methenyltetrahydrofolate synthetase chr15:80125927-80189721 The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Spinal Dysraphism; Cleft Lip|Cleft Palate; ovarian cancer; colorectal cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lymphoma, non-Hodgkin; Cardiovascular Diseases|Kidney Failure, Chronic; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels. Metabolism of folate and pterines GO:0006536;glutamate metabolic process;IMP|GO:0009396;folic acid-containing compound biosynthetic process;IBA|GO:0015942;formate metabolic process;NAS|GO:0035999;tetrahydrofolate interconversion;IMP|GO:0046653;tetrahydrofolate metabolic process;IDA|GO:0046655;folic acid metabolic process;TAS|GO:0046657;folic acid catabolic process;IMP GO:0005737;cytoplasm;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0005542;folic acid binding;IDA|GO:0016874;ligase activity;IEA|GO:0030272;5-formyltetrahydrofolate cyclo-ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTHFS https://www.uniprot.org/uniprot/P49914 https://hpo.jax.org/app/browse/search?q=MTHFS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604197 http://www.informatics.jax.org/searchtool/Search.do?query=MTHFS&submit=Quick%0D%7335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFS rs5813998 0.417931 0 0 1 0 0 intronic intronic intronic MTHFS,ST20-MTHFS MTHFS,ST20-MTHFS ENSG00000259332 Na Na Na Na Na Na Het;+C 39;3|3 Het;+C 40;3|3 Hom;+C 90;0|4 N N - 15 80191343 80191343 G A snp nonsynonymous SNV C170T P57L hydrophobic,neutral aliphatic,hydrophobic,neutral ST20 ENSG00000180953 suppressor of tumorigenicity 20 chr15:80191182-80216044 http://www.genecards.org/index.php?path=/Search/keyword/ST20 http://www.informatics.jax.org/searchtool/Search.do?query=ST20&submit=Quick%0D%14554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ST20 rs7257 0.419129 0.4854 0.5131 0.09 1 11 exonic exonic exonic ST20 ST20 ENSG00000180953 nonsynonymous SNV nonsynonymous SNV unknown ST20:NM_001100879:exon3:c.C170T:p.P57L,ST20:NM_001199757:exon3:c.C170T:p.P57L,ST20:NM_001100880:exon3:c.C170T:p.P57L, ST20:uc002bez.4:exon3:c.C170T:p.P57L,ST20:uc021srt.1:exon3:c.C170T:p.P57L,ST20:uc021srs.1:exon3:c.C170T:p.P57L, UNKNOWN Het;G>A 1781;72|82 Het;G>A 1380;70|68 Hom;G>A 4419;0|165 N N - 15 80215601 80215601 C T snp unknown ENSG00000257028 rs17286886 0.0834665 0 0.1364 1 0 0 ncRNA_exonic UTR5;UTR3 exonic ST20-AS1 ST20(uc021srs.1:c.-15586G>A,uc021srt.1:c.-15586G>A);C15orf37(uc002bfb.2:c.*93C>T) ENSG00000257028 Na Na unknown Na Na UNKNOWN Het;C>T 1495;68|67 Het;C>T 1289;58|61 Hom;C>T 2677;0|91 N N - 15 80886191 80886191 T C snp UTR3 *152T>C ARNT2 Arnt2 ENSG00000172379 aryl hydrocarbon receptor nuclear translocator 2 chr15:80696692-80890278 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013] Bipolar Disorder; Electrocardiography; Cleft Lip|Cleft Palate; Myocardial Infarction; Heart Failure; Autism Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurons in the hypothalamus. Aryl hydrocarbon receptor signalling GO:0001666;response to hypoxia;IDA|GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IMP|GO:0008284;positive regulation of cell proliferation;IEA|GO:0032355;response to estradiol;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARNT2 https://hpo.jax.org/app/browse/search?q=ARNT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606036 http://www.informatics.jax.org/searchtool/Search.do?query=ARNT2&submit=Quick%0D%13149ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARNT2 rs8033706 0.804712 0 0 1 0 0 UTR3 UTR3 UTR3 ARNT2(NM_014862:c.*152T>C) ARNT2(uc002bfr.3:c.*152T>C,uc010unm.2:c.*152T>C,uc002bfs.3:c.*152T>C) ENSG00000172379(ENST00000303329:c.*152T>C,ENST00000533983:c.*152T>C,ENST00000527771:c.*152T>C) Na Na Na Na Na Na Het;T>C 55;5|3 Het;T>C 40;3|3 Hom;T>C 87;0|3 N N - 15 81440147 81440147 C CA indel intronic C15orf26 rs11395672 0.355232 0.2778 0 1 0 0 intronic intronic intronic C15orf26 C15orf26 ENSG00000156206 Na Na Na Na Na Na Het;+A 328;25|19 Het;+A 515;21|27 Hom;+A 923;3|38 N N - 15 81578139 81578139 C T snp nonsynonymous SNV C1300T P434S hydrophobic,neutral polar,hydrophilic,neutral IL16 Il16 ENSG00000172349 interleukin 16 chr15:81451916-81605104 The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] Biliary Tract Neoplasms|Inflammation; Neoplasms; longevity; Lymphoma, Large B-Cell, Diffuse; inattentive symptoms; periodontitis; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Papillary|Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Crohn's disease; respiratory syncytial virus bronchiolitis; Endometriosis|Pain; Celiac Disease|; lung cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Colorectal Neoplasms|Stomach Neoplasms; Attention Deficit Disorder with Hyperactivity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Lupus Erythematosus, Systemic; Graves Disease; asthma; hepatitis C; lung cancer ; dermatitis and eczema; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy; Nasopharyngeal Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lymphoma, Non-Hodgkin Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling. Other interleukin signaling GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;TAS|GO:0016032;viral process;IEA|GO:0030595;leukocyte chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IEA|GO:0051924;regulation of calcium ion transport;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA GO:0005125;cytokine activity;IEA|GO:0042609;CD4 receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL16 https://www.ncbi.nlm.nih.gov/omim/?term=603035 http://www.informatics.jax.org/searchtool/Search.do?query=IL16&submit=Quick%0D%13138ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL16 rs4072111 0.164537 0.0882 0.1620 0.54 7 13 exonic exonic exonic IL16 IL16 ENSG00000172349 nonsynonymous SNV nonsynonymous SNV unknown IL16:NM_001172128:exon10:c.C1300T:p.P434S,IL16:NM_172217:exon9:c.C1300T:p.P434S, IL16:uc021ssg.1:exon10:c.C1300T:p.P434S,IL16:uc010unp.2:exon10:c.C1426T:p.P476S,IL16:uc010blq.1:exon12:c.C1300T:p.P434S,IL16:uc002bgg.3:exon10:c.C1300T:p.P434S,IL16:uc021ssh.1:exon9:c.C1300T:p.P434S, UNKNOWN Het;C>T 1440;102|68 Het;C>T 1433;88|67 Hom;C>T 3688;2|138 N N - 15 81582868 81582868 G A snp synonymous SNV G1407A Q469Q polar,hydrophilic,neutral polar,hydrophilic,neutral IL16 Il16 ENSG00000172349 interleukin 16 chr15:81451916-81605104 The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] Biliary Tract Neoplasms|Inflammation; Neoplasms; longevity; Lymphoma, Large B-Cell, Diffuse; inattentive symptoms; periodontitis; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Papillary|Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Crohn's disease; respiratory syncytial virus bronchiolitis; Endometriosis|Pain; Celiac Disease|; lung cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Colorectal Neoplasms|Stomach Neoplasms; Attention Deficit Disorder with Hyperactivity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Lupus Erythematosus, Systemic; Graves Disease; asthma; hepatitis C; lung cancer ; dermatitis and eczema; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy; Nasopharyngeal Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lymphoma, Non-Hodgkin Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling. Other interleukin signaling GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;TAS|GO:0016032;viral process;IEA|GO:0030595;leukocyte chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IEA|GO:0051924;regulation of calcium ion transport;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA GO:0005125;cytokine activity;IEA|GO:0042609;CD4 receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL16 https://www.ncbi.nlm.nih.gov/omim/?term=603035 http://www.informatics.jax.org/searchtool/Search.do?query=IL16&submit=Quick%0D%13138ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL16 rs8031107 0.585463 0.5210 0.5110 1 0 0 exonic exonic exonic IL16 IL16 ENSG00000172349 synonymous SNV synonymous SNV unknown IL16:NM_001172128:exon11:c.G1407A:p.Q469Q,IL16:NM_172217:exon10:c.G1407A:p.Q469Q, IL16:uc021ssg.1:exon11:c.G1407A:p.Q469Q,IL16:uc010unp.2:exon11:c.G1533A:p.Q511Q,IL16:uc010blq.1:exon13:c.G1407A:p.Q469Q,IL16:uc002bgg.3:exon11:c.G1407A:p.Q469Q,IL16:uc021ssh.1:exon10:c.G1407A:p.Q469Q, UNKNOWN Het;G>A 502;27|23 Het;G>A 633;19|32 Hom;G>A 1372;2|55 N N - 15 81584925 81584925 C T snp synonymous SNV C1449T H483H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) IL16 Il16 ENSG00000172349 interleukin 16 chr15:81451916-81605104 The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] Biliary Tract Neoplasms|Inflammation; Neoplasms; longevity; Lymphoma, Large B-Cell, Diffuse; inattentive symptoms; periodontitis; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Papillary|Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Crohn's disease; respiratory syncytial virus bronchiolitis; Endometriosis|Pain; Celiac Disease|; lung cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Artery Disease; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Colorectal Neoplasms|Stomach Neoplasms; Attention Deficit Disorder with Hyperactivity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Lupus Erythematosus, Systemic; Graves Disease; asthma; hepatitis C; lung cancer ; dermatitis and eczema; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy; Nasopharyngeal Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lymphoma, Non-Hodgkin Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling. Other interleukin signaling GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006955;immune response;TAS|GO:0016032;viral process;IEA|GO:0030595;leukocyte chemotaxis;IEA|GO:0050930;induction of positive chemotaxis;IEA|GO:0051924;regulation of calcium ion transport;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA GO:0005125;cytokine activity;IEA|GO:0042609;CD4 receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL16 https://www.ncbi.nlm.nih.gov/omim/?term=603035 http://www.informatics.jax.org/searchtool/Search.do?query=IL16&submit=Quick%0D%13138ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL16 rs61752774 0.167133 0.0932 0.1600 1 0 0 exonic exonic exonic IL16 IL16 ENSG00000172349 synonymous SNV synonymous SNV unknown IL16:NM_001172128:exon12:c.C1449T:p.H483H,IL16:NM_172217:exon11:c.C1449T:p.H483H, IL16:uc021ssg.1:exon12:c.C1449T:p.H483H,IL16:uc010unp.2:exon12:c.C1575T:p.H525H,IL16:uc010blq.1:exon14:c.C1449T:p.H483H,IL16:uc002bgg.3:exon12:c.C1449T:p.H483H,IL16:uc021ssh.1:exon11:c.C1449T:p.H483H, UNKNOWN Het;C>T 2355;95|104 Het;C>T 2194;81|98 Hom;C>T 4843;0|176 N N - 15 81610902 81610902 T C snp intronic STARD5 Stard5 ENSG00000172345 StAR related lipid transfer domain containing 5 chr15:81601394-81616524 Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology. Recycling of bile acids and salts GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015721;bile acid and bile salt transport;TAS|GO:0070508;cholesterol import;IDA GO:0005739;mitochondrion;IBA|GO:0005829;cytosol;TAS GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0032052;bile acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STARD5 https://www.ncbi.nlm.nih.gov/omim/?term=607050 http://www.informatics.jax.org/searchtool/Search.do?query=STARD5&submit=Quick%0D%13135ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STARD5 rs4617815 0.397364 0 0 1 0 0 intronic intronic intronic STARD5 STARD5 ENSG00000172345 Na Na Na Na Na Na Het;T>C 218;12|10 Het;T>C 231;8|10 Hom;T>C 377;0|13 N N - 15 81628832 81628832 C A snp ncRNA_intronic TMC3-AS1 rs34480099 0.242812 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TMC3-AS1 TMC3 ENSG00000259343 Na Na Na Na Na Na Het;C>A 232;14|10 Het;C>A 258;10|9 Hom;C>A 593;0|18 N N - 15 81631900 81631900 G T snp ncRNA_intronic TMC3-AS1 rs34384568 0.242812 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TMC3-AS1 TMC3 ENSG00000259343 Na Na Na Na Na Na Het;G>T 383;15|18 Het;G>T 483;12|22 Hom;G>T 847;0|29 N N - 15 81638646 81638646 G A snp ncRNA_intronic TMC3-AS1 rs35379895 0.274161 0.1465 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TMC3-AS1 TMC3 ENSG00000259343 Na Na Na Na Na Na Het;G>A 406;18|18 Het;G>A 264;13|11 Hom;G>A 621;0|23 N N - 15 81654757 81654757 T TG indel ncRNA_intronic TMC3-AS1 rs397717230 0.570687 0 0 1 0 0 ncRNA_intronic intronic intronic TMC3-AS1 TMC3 ENSG00000188869 Na Na Na Na Na Na Het;+G 456;7|15 Het;+G 142;9|6 Hom;+G 374;0|11 N N - 15 83328542 83328542 C G snp ncRNA_intronic LOC283692 rs11635442 0.210064 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CPEB1-AS1 LOC283692 ENSG00000259462 Na Na Na Na Na Na Het;C>G 440;41|16 Het;C>G 708;28|27 Hom;C>G 1748;0|59 N N - 15 83334419 83334419 T C snp ncRNA_intronic LOC283692 rs7494860 0.503395 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CPEB1-AS1 LOC283692 ENSG00000259462 Na Na Na Na Na Na Het;T>C 228;5|9 Het;T>C 141;2|6 Hom;T>C 376;0|13 N N - 15 83335875 83335875 A C snp ncRNA_intronic LOC283692 rs6603033 0.534345 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CPEB1-AS1 LOC283692 ENSG00000259462 Na Na Na Na Na Na Het;A>C 113;8|6 Het;A>C 53;2|4 Hom;A>C 170;0|8 N N - 15 83342772 83342772 A G snp ncRNA_intronic LOC283692 rs4779046 0.78734 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CPEB1-AS1 LOC283692 ENSG00000259462 Na Na Na Na Na Na Het;A>G 103;2|7 Ref Hom;A>G 130;0|7 N N - 15 83361663 83361663 A G snp intronic AP3B2 Ap3b2 ENSG00000103723 adaptor related protein complex 3 beta 2 subunit chr15:83328033-83378666 Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008] schizophrenia Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens. GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0008089;anterograde axonal transport;ISS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048490;anterograde synaptic vesicle transport;ISS GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030137;COPI-coated vesicle;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1904115;axon cytoplasm;IEA GO:0005215;transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AP3B2 https://www.uniprot.org/uniprot/Q13367 https://hpo.jax.org/app/browse/search?q=AP3B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602166 http://www.informatics.jax.org/searchtool/Search.do?query=AP3B2&submit=Quick%0D%3054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP3B2 rs4779048 0.211262 0 0 1 0 0 intronic intronic intronic AP3B2 AP3B2 ENSG00000103723 Na Na Na Na Na Na Het;A>G 266;10|10 Het;A>G 174;7|6 Hom;A>G 464;0|18 N N - 15 83394553 83394553 G A snp downstream ACTG1P17 rs11635460 0.28135 0 0 1 0 0 downstream downstream downstream ACTG1P17 LOC283693 ENSG00000259315,ENSG00000266697 Na Na Na Na Na Na Het;G>A 112;2|4 Ref Hom;G>A 232;0|9 N N - 15 83395340 83395340 T C snp nonsynonymous SNV A493G M165V hydrophobic,neutral aliphatic,hydrophobic,neutral LOC283693 rs11633991 0.209864 0 0.2785 1 0 0 ncRNA_exonic exonic ncRNA_exonic ACTG1P17 LOC283693 ENSG00000259315,ENSG00000266697 Na nonsynonymous SNV Na Na LOC283693:uc002bjb.3:exon3:c.A493G:p.M165V, Na Het;T>C 1206;48|49 Het;T>C 620;49|31 Hom;T>C 2223;0|78 N N - 15 83423885 83423885 A G snp ncRNA_exonic SCARNA15 rs11631033 0.179513 0 0 1 0 0 ncRNA_intronic upstream ncRNA_exonic SNHG21 SCARNA15 ENSG00000252690 Na Na Na Na Na Na Het;A>G 259;17|9 Het;A>G 164;11|6 Hom;A>G 234;0|8 N N - 15 83441012 83441012 C A snp intronic FSD2 Fsd2 ENSG00000186628 fibronectin type III and SPRY domain containing 2 chr15:83424114-83474822 This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Carotid Artery Diseases|Plaque, Atherosclerotic GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FSD2 http://www.informatics.jax.org/searchtool/Search.do?query=FSD2&submit=Quick%0D%15682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSD2 rs1105287 0.187101 0.1222 0.2356 1 0 0 intronic intronic intronic FSD2 FSD2 ENSG00000186628 Na Na Na Na Na Na Het;C>A 314;49|18 Het;C>A 626;31|34 Hom;C>A 1123;0|44 N N - 15 83447631 83447631 T G snp nonsynonymous SNV A998C K333T polar,hydrophilic,charged(+) polar,hydrophilic,neutral FSD2 Fsd2 ENSG00000186628 fibronectin type III and SPRY domain containing 2 chr15:83424114-83474822 This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Carotid Artery Diseases|Plaque, Atherosclerotic GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FSD2 http://www.informatics.jax.org/searchtool/Search.do?query=FSD2&submit=Quick%0D%15682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSD2 rs4779061 0.18111 0.1246 0.1945 0.31 4 13 exonic exonic exonic FSD2 FSD2 ENSG00000186628 nonsynonymous SNV nonsynonymous SNV unknown FSD2:NM_001007122:exon6:c.A998C:p.K333T,FSD2:NM_001281805:exon7:c.A998C:p.K333T,FSD2:NM_001281806:exon6:c.A998C:p.K333T, FSD2:uc002bjd.2:exon6:c.A998C:p.K333T,FSD2:uc010uom.1:exon6:c.A998C:p.K333T,FSD2:uc010uol.1:exon7:c.A998C:p.K333T, UNKNOWN Het;T>G 453;33|21 Het;T>G 1289;47|56 Hom;T>G 3070;0|105 N N - 15 83447788 83447788 C G snp intronic FSD2 Fsd2 ENSG00000186628 fibronectin type III and SPRY domain containing 2 chr15:83424114-83474822 This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Carotid Artery Diseases|Plaque, Atherosclerotic GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FSD2 http://www.informatics.jax.org/searchtool/Search.do?query=FSD2&submit=Quick%0D%15682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSD2 rs4132210 0.18111 0 0 1 0 0 intronic intronic intronic FSD2 FSD2 ENSG00000186628 Na Na Na Na Na Na Het;C>G 106;3|4 Het;C>G 77;4|3 Hom;C>G 376;0|10 N N - 15 83455137 83455137 A G snp intronic FSD2 Fsd2 ENSG00000186628 fibronectin type III and SPRY domain containing 2 chr15:83424114-83474822 This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Carotid Artery Diseases|Plaque, Atherosclerotic GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FSD2 http://www.informatics.jax.org/searchtool/Search.do?query=FSD2&submit=Quick%0D%15682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSD2 rs11259947 0.478235 0 0 1 0 0 intronic intronic intronic FSD2 FSD2 ENSG00000186628 Na Na Na Na Na Na Het;A>G 229;13|8 Het;A>G 101;6|4 Hom;A>G 385;0|10 N N - 15 83479349 83479349 T C snp intronic WHAMM Whamm ENSG00000156232 WAS protein homolog associated with actin, golgi membranes and microtubules chr15:83478380-83503611 This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013] GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0007015;actin filament organization;IDA|GO:0007050;cell cycle arrest;IBA|GO:0030032;lamellipodium assembly;IMP|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0048041;focal adhesion assembly;IMP|GO:0051127;positive regulation of actin nucleation;IDA|GO:0090527;actin filament reorganization;IMP|GO:0097320;plasma membrane tubulation;IDA GO:0000139;Golgi membrane;IDA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IDA GO:0003779;actin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0017049;GTP-Rho binding;IDA|GO:0071933;Arp2/3 complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/WHAMM https://www.uniprot.org/uniprot/Q8TF30 https://www.ncbi.nlm.nih.gov/omim/?term=612393 http://www.informatics.jax.org/searchtool/Search.do?query=WHAMM&submit=Quick%0D%9955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WHAMM rs66851469 0.497204 0 0 1 0 0 intronic intronic intronic WHAMM WHAMM ENSG00000156232 Na Na Na Na Na Na Het;T>C 941;42|45 Het;T>C 1136;32|50 Hom;T>C 2552;0|97 N N - 15 83481579 83481579 A C snp intronic WHAMM Whamm ENSG00000156232 WAS protein homolog associated with actin, golgi membranes and microtubules chr15:83478380-83503611 This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013] GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0007015;actin filament organization;IDA|GO:0007050;cell cycle arrest;IBA|GO:0030032;lamellipodium assembly;IMP|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0048041;focal adhesion assembly;IMP|GO:0051127;positive regulation of actin nucleation;IDA|GO:0090527;actin filament reorganization;IMP|GO:0097320;plasma membrane tubulation;IDA GO:0000139;Golgi membrane;IDA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IDA GO:0003779;actin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0017049;GTP-Rho binding;IDA|GO:0071933;Arp2/3 complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/WHAMM https://www.uniprot.org/uniprot/Q8TF30 https://www.ncbi.nlm.nih.gov/omim/?term=612393 http://www.informatics.jax.org/searchtool/Search.do?query=WHAMM&submit=Quick%0D%9955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WHAMM rs8025432 0.497005 0 0 1 0 0 intronic intronic intronic WHAMM WHAMM ENSG00000156232 Na Na Na Na Na Na Het;A>C 514;31|26 Het;A>C 309;26|16 Hom;A>C 1482;0|58 N N - 15 83499665 83499665 G A snp synonymous SNV G1956A P652P hydrophobic,neutral hydrophobic,neutral WHAMM Whamm ENSG00000156232 WAS protein homolog associated with actin, golgi membranes and microtubules chr15:83478380-83503611 This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013] GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0007015;actin filament organization;IDA|GO:0007050;cell cycle arrest;IBA|GO:0030032;lamellipodium assembly;IMP|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0048041;focal adhesion assembly;IMP|GO:0051127;positive regulation of actin nucleation;IDA|GO:0090527;actin filament reorganization;IMP|GO:0097320;plasma membrane tubulation;IDA GO:0000139;Golgi membrane;IDA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IDA GO:0003779;actin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0017049;GTP-Rho binding;IDA|GO:0071933;Arp2/3 complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/WHAMM https://www.uniprot.org/uniprot/Q8TF30 https://www.ncbi.nlm.nih.gov/omim/?term=612393 http://www.informatics.jax.org/searchtool/Search.do?query=WHAMM&submit=Quick%0D%9955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WHAMM rs3814282 0.177316 0.1199 0.1932 1 0 0 exonic exonic exonic WHAMM WHAMM ENSG00000156232 synonymous SNV synonymous SNV unknown WHAMM:NM_001080435:exon9:c.G1956A:p.P652P, WHAMM:uc002bje.3:exon9:c.G1956A:p.P652P, UNKNOWN Het;G>A 233;22|14 Het;G>A 329;11|15 Hom;G>A 491;1|23 N N - 15 83499766 83499766 G A snp nonsynonymous SNV G2057A R686H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) WHAMM Whamm ENSG00000156232 WAS protein homolog associated with actin, golgi membranes and microtubules chr15:83478380-83503611 This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013] GO:0006888;ER to Golgi vesicle-mediated transport;IDA|GO:0007015;actin filament organization;IDA|GO:0007050;cell cycle arrest;IBA|GO:0030032;lamellipodium assembly;IMP|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0048041;focal adhesion assembly;IMP|GO:0051127;positive regulation of actin nucleation;IDA|GO:0090527;actin filament reorganization;IMP|GO:0097320;plasma membrane tubulation;IDA GO:0000139;Golgi membrane;IDA|GO:0005737;cytoplasm;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IDA GO:0003779;actin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0017049;GTP-Rho binding;IDA|GO:0071933;Arp2/3 complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/WHAMM https://www.uniprot.org/uniprot/Q8TF30 https://www.ncbi.nlm.nih.gov/omim/?term=612393 http://www.informatics.jax.org/searchtool/Search.do?query=WHAMM&submit=Quick%0D%9955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WHAMM rs3814281 0.176518 0.1230 0.1652 0.15 2 13 exonic exonic exonic WHAMM WHAMM ENSG00000156232 nonsynonymous SNV nonsynonymous SNV unknown WHAMM:NM_001080435:exon9:c.G2057A:p.R686H, WHAMM:uc002bje.3:exon9:c.G2057A:p.R686H, UNKNOWN Het;G>A 1147;72|57 Het;G>A 1150;39|53 Hom;G>A 3056;0|114 N N - 15 83521036 83521036 C T snp intronic HOMER2 Homer2 ENSG00000103942 homer scaffolding protein 2 chr15:83509838-83654661 This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011] schizophrenia; several psychiatric disorders; cocaine dependence; Alcoholism Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. Neurexins and neuroligins GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007605;sensory perception of sound;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0048875;chemical homeostasis within a tissue;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032420;stereocilium;IEA|GO:0032426;stereocilium tip;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045177;apical part of cell;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030160;GKAP/Homer scaffold activity;IEA|GO:0035254;glutamate receptor binding;IEA|GO:0035256;G-protein coupled glutamate receptor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOMER2 https://www.uniprot.org/uniprot/Q9NSB8 https://hpo.jax.org/app/browse/search?q=HOMER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604799 http://www.informatics.jax.org/searchtool/Search.do?query=HOMER2&submit=Quick%0D%3064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMER2 rs1256429 0.826877 0.8280 0.7929 1 0 0 intronic intronic intronic HOMER2 HOMER2 ENSG00000103942 Na Na Na Na Na Na Het;C>T 787;61|36 Het;C>T 825;50|42 Hom;C>T 1220;0|48 N N - 15 83523368 83523368 C G snp intronic HOMER2 Homer2 ENSG00000103942 homer scaffolding protein 2 chr15:83509838-83654661 This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011] schizophrenia; several psychiatric disorders; cocaine dependence; Alcoholism Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. Neurexins and neuroligins GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007605;sensory perception of sound;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0048875;chemical homeostasis within a tissue;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032420;stereocilium;IEA|GO:0032426;stereocilium tip;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045177;apical part of cell;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030160;GKAP/Homer scaffold activity;IEA|GO:0035254;glutamate receptor binding;IEA|GO:0035256;G-protein coupled glutamate receptor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOMER2 https://www.uniprot.org/uniprot/Q9NSB8 https://hpo.jax.org/app/browse/search?q=HOMER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604799 http://www.informatics.jax.org/searchtool/Search.do?query=HOMER2&submit=Quick%0D%3064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMER2 rs1256426 0.483227 0.4282 0.5148 1 0 0 intronic intronic intronic HOMER2 HOMER2 ENSG00000103942 Na Na Na Na Na Na Het;C>G 1182;44|50 Het;C>G 840;34|36 Hom;C>G 1850;0|66 N N - 15 83528056 83528056 G GT indel intronic HOMER2 Homer2 ENSG00000103942 homer scaffolding protein 2 chr15:83509838-83654661 This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011] schizophrenia; several psychiatric disorders; cocaine dependence; Alcoholism Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. Neurexins and neuroligins GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007605;sensory perception of sound;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0048875;chemical homeostasis within a tissue;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032420;stereocilium;IEA|GO:0032426;stereocilium tip;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045177;apical part of cell;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030160;GKAP/Homer scaffold activity;IEA|GO:0035254;glutamate receptor binding;IEA|GO:0035256;G-protein coupled glutamate receptor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOMER2 https://www.uniprot.org/uniprot/Q9NSB8 https://hpo.jax.org/app/browse/search?q=HOMER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604799 http://www.informatics.jax.org/searchtool/Search.do?query=HOMER2&submit=Quick%0D%3064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMER2 rs397746891 0.775759 0 0 1 0 0 intronic intronic intronic HOMER2 HOMER2 ENSG00000103942 Na Na Na Na Na Na Het;+T 38;1|4 Ref Hom;+T 55;0|4 N N - 15 83543958 83543958 C T snp intronic HOMER2 Homer2 ENSG00000103942 homer scaffolding protein 2 chr15:83509838-83654661 This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011] schizophrenia; several psychiatric disorders; cocaine dependence; Alcoholism Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. Neurexins and neuroligins GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007605;sensory perception of sound;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;IEA|GO:0048148;behavioral response to cocaine;IEA|GO:0048875;chemical homeostasis within a tissue;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032420;stereocilium;IEA|GO:0032426;stereocilium tip;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045177;apical part of cell;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030160;GKAP/Homer scaffold activity;IEA|GO:0035254;glutamate receptor binding;IEA|GO:0035256;G-protein coupled glutamate receptor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOMER2 https://www.uniprot.org/uniprot/Q9NSB8 https://hpo.jax.org/app/browse/search?q=HOMER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604799 http://www.informatics.jax.org/searchtool/Search.do?query=HOMER2&submit=Quick%0D%3064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOMER2 rs1256454 0.506989 0 0 1 0 0 intronic intronic intronic HOMER2 HOMER2 ENSG00000103942 Na Na Na Na Na Na Het;C>T 492;21|24 Ref Hom;C>T 664;0|24 N N - 15 84488636 84488636 A G snp nonsynonymous SNV A437G H146R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4483821 0.679313 0.5625 0.5401 0.15 2 13 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 nonsynonymous SNV nonsynonymous SNV unknown ADAMTSL3:NM_207517:exon6:c.A437G:p.H146R,ADAMTSL3:NM_001301110:exon6:c.A437G:p.H146R, ADAMTSL3:uc002bjz.4:exon6:c.A437G:p.H146R,ADAMTSL3:uc002bjy.1:exon6:c.A437G:p.H146R,ADAMTSL3:uc010bmt.1:exon6:c.A437G:p.H146R, UNKNOWN Het;A>G 1356;36|52 Het;A>G 501;28|23 Hom;A>G 1602;0|60 N N - 15 84539619 84539619 C G snp nonsynonymous SNV C868G L290V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4144691 0.807508 0.8483 0.8061 0.08 1 13 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 nonsynonymous SNV nonsynonymous SNV unknown ADAMTSL3:NM_207517:exon9:c.C868G:p.L290V,ADAMTSL3:NM_001301110:exon9:c.C868G:p.L290V, ADAMTSL3:uc002bjz.4:exon9:c.C868G:p.L290V,ADAMTSL3:uc010bmt.1:exon9:c.C868G:p.L290V, UNKNOWN Het;C>G 1611;55|68 Het;C>G 945;68|46 Hom;C>G 3000;1|110 N N - 15 84554018 84554018 G C snp intronic ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs8028931 0.804912 0 0 1 0 0 intronic intronic intronic ADAMTSL3 ADAMTSL3 ENSG00000156218 Na Na Na Na Na Na Het;G>C 1622;31|41 Het;G>C 700;23|29 Hom;G>C 1893;0|52 N N - 15 84568504 84568504 A G snp intronic ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs6603004 0.686901 0.6184 0.6128 1 0 0 intronic intronic intronic ADAMTSL3 ADAMTSL3 ENSG00000156218 Na Na Na Na Na Na Het;A>G 646;30|28 Het;A>G 793;20|38 Hom;A>G 1977;4|79 N N - 15 84581904 84581904 T C snp synonymous SNV T1761C R587R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4842923 0.686102 0.6183 0.5991 1 0 0 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 synonymous SNV synonymous SNV unknown ADAMTSL3:NM_207517:exon16:c.T1761C:p.R587R,ADAMTSL3:NM_001301110:exon16:c.T1761C:p.R587R, ADAMTSL3:uc002bjz.4:exon16:c.T1761C:p.R587R,ADAMTSL3:uc010bmt.1:exon16:c.T1761C:p.R587R, UNKNOWN Het;T>C 2851;121|120 Het;T>C 3860;120|104 Hom;T>C 7283;2|197 N N - 15 84582124 84582124 G T snp nonsynonymous SNV G1981T V661L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4842838 0.685703 0.6182 0.5990 0.08 1 13 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 nonsynonymous SNV nonsynonymous SNV unknown ADAMTSL3:NM_207517:exon16:c.G1981T:p.V661L,ADAMTSL3:NM_001301110:exon16:c.G1981T:p.V661L, ADAMTSL3:uc002bjz.4:exon16:c.G1981T:p.V661L,ADAMTSL3:uc010bmt.1:exon16:c.G1981T:p.V661L, UNKNOWN Het;G>T 1903;149|92 Het;G>T 2317;113|104 Hom;G>T 5175;3|196 N N - 15 84651290 84651290 T C snp synonymous SNV T2910C H970H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs7176737 0.869209 0.8340 0.8144 1 0 0 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 synonymous SNV synonymous SNV unknown ADAMTSL3:NM_207517:exon21:c.T2910C:p.H970H,ADAMTSL3:NM_001301110:exon21:c.T2910C:p.H970H, ADAMTSL3:uc002bjz.4:exon21:c.T2910C:p.H970H,ADAMTSL3:uc010bmt.1:exon21:c.T2910C:p.H970H, UNKNOWN Het;T>C 3165;131|139 Het;T>C 2977;114|128 Hom;T>C 6445;0|234 N N - 15 85437979 85437979 C A snp intronic SLC28A1 Slc28a1 ENSG00000156222 solute carrier family 28 member 1 chr15:85427885-85518876 Leukemia, Lymphocytic, Chronic, B-Cell; Alzheimer Disease; Leukemia, Myeloid, Acute; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Chronic renal failure|Kidney Failure, Chronic; pancreatic neoplasm; null; pancreatic cancer; lung cancer Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006810;transport;IEA|GO:0015855;pyrimidine nucleobase transport;IEA|GO:0015858;nucleoside transport;TAS|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1901642;nucleoside transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005337;nucleoside transmembrane transporter activity;TAS|GO:0005415;nucleoside:sodium symporter activity;TAS|GO:0015389;pyrimidine- and adenine-specific:sodium symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC28A1 https://www.uniprot.org/uniprot/O00337 https://www.ncbi.nlm.nih.gov/omim/?term=606207 http://www.informatics.jax.org/searchtool/Search.do?query=SLC28A1&submit=Quick%0D%9954ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC28A1 rs1545471 0.445288 0 0 1 0 0 intronic intronic intronic SLC28A1 SLC28A1 ENSG00000156222 Na Na Na Na Na Na Het;C>A 41;1|2 Ref Hom;C>A 159;0|5 N N - 15 85438397 85438397 A C snp intronic SLC28A1 Slc28a1 ENSG00000156222 solute carrier family 28 member 1 chr15:85427885-85518876 Leukemia, Lymphocytic, Chronic, B-Cell; Alzheimer Disease; Leukemia, Myeloid, Acute; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Chronic renal failure|Kidney Failure, Chronic; pancreatic neoplasm; null; pancreatic cancer; lung cancer Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0006810;transport;IEA|GO:0015855;pyrimidine nucleobase transport;IEA|GO:0015858;nucleoside transport;TAS|GO:0072531;pyrimidine-containing compound transmembrane transport;IEA|GO:1901642;nucleoside transmembrane transport;IEA|GO:1904823;purine nucleobase transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005337;nucleoside transmembrane transporter activity;TAS|GO:0005415;nucleoside:sodium symporter activity;TAS|GO:0015389;pyrimidine- and adenine-specific:sodium symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC28A1 https://www.uniprot.org/uniprot/O00337 https://www.ncbi.nlm.nih.gov/omim/?term=606207 http://www.informatics.jax.org/searchtool/Search.do?query=SLC28A1&submit=Quick%0D%9954ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC28A1 rs8187753 0.451677 0.3058 0.4490 1 0 0 intronic intronic intronic SLC28A1 SLC28A1 ENSG00000156222 Na Na Na Na Na Na Het;A>C 714;17|23 Het;A>C 190;8|8 Hom;A>C 650;0|19 N N - 15 85719783 85719783 T G snp intergenic PDE8A Pde8a ENSG00000073417 phosphodiesterase 8A chr15:85523671-85682376 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media. G alpha (s) signalling events GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE8A https://www.uniprot.org/uniprot/O60658 https://www.ncbi.nlm.nih.gov/omim/?term=602972 http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A rs10852147 0.858826 0 0 1 0 0 intergenic intergenic intergenic PDE8A(dist=37407),LOC642423(dist=28124) PDE8A(dist=37407),DQ596274(dist=27523) ENSG00000073417(dist=37407),ENSG00000259270(dist=2076) Na Na Na Na Na Na Het;T>G 193;18|8 Het;T>G 361;11|17 Hom;T>G 759;0|27 N N - 15 85721469 85721469 G T snp downstream AC044860.2 rs2342124 0.859026 0 0 1 0 0 intergenic intergenic downstream PDE8A(dist=39093),LOC642423(dist=26438) PDE8A(dist=39093),DQ596274(dist=25837) ENSG00000259270 Na Na Na Na Na Na Het;G>T 62;4|3 Ref Hom;G>T 143;0|7 N N - 15 85721912 85721912 A G snp ncRNA_exonic AC044860.2 rs3964197 0.786741 0 0 1 0 0 intergenic intergenic ncRNA_exonic PDE8A(dist=39536),LOC642423(dist=25995) PDE8A(dist=39536),DQ596274(dist=25394) ENSG00000259270 Na Na Na Na Na Na Het;A>G 1398;49|59 Het;A>G 767;75|44 Hom;A>G 3133;0|113 N N - 15 85721992 85721992 T G snp ncRNA_exonic AC044860.2 rs8039368 0.860224 0 0 1 0 0 intergenic intergenic ncRNA_exonic PDE8A(dist=39616),LOC642423(dist=25915) PDE8A(dist=39616),DQ596274(dist=25314) ENSG00000259270 Na Na Na Na Na Na Het;T>G 891;32|38 Het;T>G 678;60|36 Hom;T>G 2087;0|75 N N - 15 85729834 85729834 G C snp intergenic PDE8A Pde8a ENSG00000073417 phosphodiesterase 8A chr15:85523671-85682376 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media. G alpha (s) signalling events GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE8A https://www.uniprot.org/uniprot/O60658 https://www.ncbi.nlm.nih.gov/omim/?term=602972 http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A rs71226221 0.803714 0 0 1 0 0 intergenic intergenic intergenic PDE8A(dist=47458),LOC642423(dist=18073) PDE8A(dist=47458),DQ596274(dist=17472) ENSG00000259449(dist=4520),ENSG00000259295(dist=4835) Na Na Na Na Na Na Het;G>C 193;9|9 Het;G>C 49;14|4 Hom;G>C 539;0|21 N N - 15 85731471 85731471 T C snp intergenic PDE8A Pde8a ENSG00000073417 phosphodiesterase 8A chr15:85523671-85682376 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] Type 2 Diabetes| edema | rosiglitazone; Glucose; Polycystic Ovary Syndrome; Myocardial Infarction Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media. G alpha (s) signalling events GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006198;cAMP catabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0009187;cyclic nucleotide metabolic process;NAS|GO:0060548;negative regulation of cell death;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE8A https://www.uniprot.org/uniprot/O60658 https://www.ncbi.nlm.nih.gov/omim/?term=602972 http://www.informatics.jax.org/searchtool/Search.do?query=PDE8A&submit=Quick%0D%1468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE8A rs28416825 0.766773 0 0 1 0 0 intergenic intergenic intergenic PDE8A(dist=49095),LOC642423(dist=16436) PDE8A(dist=49095),DQ596274(dist=15835) ENSG00000259449(dist=6157),ENSG00000259295(dist=3198) Na Na Na Na Na Na Het;T>C 51;1|3 Het;T>C 87;4|5 Hom;T>C 120;0|6 N N - 15 85747716 85747716 G A snp ncRNA_exonic BC096759 rs60815189 0 0 0 1 0 0 downstream ncRNA_exonic ncRNA_exonic LOC642423 BC096759 ENSG00000229212 Na Na Na Na Na Na Het;G>A 424;146|29 Ref Hom;G>A 681;0|19 N N - 15 85747761 85747761 C T snp ncRNA_exonic BC096759 rs77674848 0 0 0 1 0 0 downstream ncRNA_exonic ncRNA_exonic LOC642423 BC096759 ENSG00000229212 Na Na Na Na Na Na Het;C>T 560;177|38 Ref Hom;C>T 1701;0|53 N N - 15 85793001 85793001 G C snp intergenic LOC642423 rs56182509 0 0 0 1 0 0 intergenic intergenic intergenic LOC642423(dist=44483),MIR7706(dist=130826) AK301968(dist=2591),AKAP13(dist=130846) ENSG00000188388(dist=2591),ENSG00000218052(dist=5599) Na Na Na Na Na Na Het;G>C 231;27|14 Het;G>C 163;9|9 Hom;G>C 486;0|20 N N - 15 85794335 85794335 T C snp intergenic LOC642423 rs55661613 0.829673 0 0 1 0 0 intergenic intergenic intergenic LOC642423(dist=45817),MIR7706(dist=129492) AK301968(dist=3925),AKAP13(dist=129512) ENSG00000188388(dist=3925),ENSG00000218052(dist=4265) Na Na Na Na Na Na Het;T>C 458;15|20 Het;T>C 240;25|12 Hom;T>C 1031;0|37 N N - 15 85795151 85795151 T C snp intergenic LOC642423 rs3106310 0.866414 0 0 1 0 0 intergenic intergenic intergenic LOC642423(dist=46633),MIR7706(dist=128676) AK301968(dist=4741),AKAP13(dist=128696) ENSG00000188388(dist=4741),ENSG00000218052(dist=3449) Na Na Na Na Na Na Het;T>C 821;35|33 Het;T>C 690;28|31 Hom;T>C 1901;0|63 N N - 15 85795330 85795330 T G snp intergenic LOC642423 rs28665805 0.757987 0 0 1 0 0 intergenic intergenic intergenic LOC642423(dist=46812),MIR7706(dist=128497) AK301968(dist=4920),AKAP13(dist=128517) ENSG00000188388(dist=4920),ENSG00000218052(dist=3270) Na Na Na Na Na Na Het;T>G 1186;62|49 Het;T>G 1084;50|53 Hom;T>G 2180;0|80 N N - 15 85795447 85795448 GT G indel intergenic LOC642423 rs201184520 0.838858 0 0 1 0 0 intergenic intergenic intergenic LOC642423(dist=46929),MIR7706(dist=128379) AK301968(dist=5037),AKAP13(dist=128399) ENSG00000188388(dist=5037),ENSG00000218052(dist=3152) Na Na Na Na Na Na Het;-T 132;47|9 Ref Hom;-T 74;0|4 N N - 15 85805243 85805243 T C snp ncRNA_exonic ADAMTS7P4 rs58677120 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC642423(dist=56725),MIR7706(dist=118584) AK301968(dist=14833),AKAP13(dist=118604) ENSG00000218052 Na Na Na Na Na Na Het;T>C 1645;201|79 Het;T>C 1950;176|79 Hom;T>C 3224;0|101 N N - 15 85806438 85806438 G C snp ncRNA_intronic ADAMTS7P4 rs4240773 0.868011 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=57920),MIR7706(dist=117389) AK301968(dist=16028),AKAP13(dist=117409) ENSG00000218052 Na Na Na Na Na Na Het;G>C 1382;57|54 Het;G>C 871;54|40 Hom;G>C 2169;0|73 N N - 15 85816575 85816575 G A snp ncRNA_intronic ADAMTS7P4 rs77197603 0.150759 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=68057),MIR7706(dist=107252) AK301968(dist=26165),AKAP13(dist=107272) ENSG00000218052 Na Na Na Na Na Na Het;G>A 1002;51|45 Het;G>A 693;56|33 Hom;G>A 2368;3|94 N N - 15 85816754 85816757 ATCT A indel ncRNA_intronic ADAMTS7P4 rs3029847 0.53774 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=68236),MIR7706(dist=107070) AK301968(dist=26344),AKAP13(dist=107090) ENSG00000218052 Na Na Na Na Na Na Het;-TCT 866;21|23 Het;-TCT 1237;11|32 Hom;-TCT 773;0|18 N N - 15 85817192 85817192 T C snp ncRNA_intronic ADAMTS7P4 rs2342117 0.873403 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=68674),MIR7706(dist=106635) AK301968(dist=26782),AKAP13(dist=106655) ENSG00000218052 Na Na Na Na Na Na Het;T>C 179;13|8 Het;T>C 334;17|16 Hom;T>C 796;0|28 N N - 15 85817218 85817218 A C snp ncRNA_intronic ADAMTS7P4 rs1877198 0.873403 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=68700),MIR7706(dist=106609) AK301968(dist=26808),AKAP13(dist=106629) ENSG00000218052 Na Na Na Na Na Na Het;A>C 241;17|11 Het;A>C 467;16|20 Hom;A>C 1112;0|39 N N - 15 85817444 85817444 C T snp ncRNA_intronic ADAMTS7P4 rs1810161 0.873203 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=68926),MIR7706(dist=106383) AK301968(dist=27034),AKAP13(dist=106403) ENSG00000218052 Na Na Na Na Na Na Het;C>T 573;30|29 Het;C>T 837;37|40 Hom;C>T 1998;0|75 N N - 15 85840440 85840440 A C snp ncRNA_intronic ADAMTS7P4 rs925412 0.859824 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC642423(dist=91922),MIR7706(dist=83387) AK301968(dist=50030),AKAP13(dist=83407) ENSG00000218052 Na Na Na Na Na Na Het;A>C 246;35|15 Het;A>C 610;31|32 Hom;A>C 1211;2|49 N N - 15 86584854 86584854 C T snp intergenic KLHL25 Klhl25 ENSG00000183655 kelch like family member 25 chr15:86302554-86338261 Aging; Body Height; Osteoporosis; Body Fat Distribution; Aging traits; Iron Antigen processing: Ubiquitination & Proteasome degradation GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IDA|GO:0016567;protein ubiquitination;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA http://www.genecards.org/index.php?path=/Search/keyword/KLHL25 http://www.informatics.jax.org/searchtool/Search.do?query=KLHL25&submit=Quick%0D%15038ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL25 rs12917537 0.54393 0 0 1 0 0 intergenic intergenic intergenic KLHL25(dist=246665),LINC01584(dist=41722) U6(dist=219666),5S_rRNA(dist=96646) ENSG00000259608(dist=82652),ENSG00000260758(dist=37120) Na Na Na Na Na Na Het;C>T 70;7|5 Het;C>T 34;6|3 Hom;C>T 170;0|8 N N - 15 86584881 86584881 G A snp intergenic KLHL25 Klhl25 ENSG00000183655 kelch like family member 25 chr15:86302554-86338261 Aging; Body Height; Osteoporosis; Body Fat Distribution; Aging traits; Iron Antigen processing: Ubiquitination & Proteasome degradation GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IDA|GO:0016567;protein ubiquitination;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA http://www.genecards.org/index.php?path=/Search/keyword/KLHL25 http://www.informatics.jax.org/searchtool/Search.do?query=KLHL25&submit=Quick%0D%15038ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL25 rs12916507 0.545327 0 0 1 0 0 intergenic intergenic intergenic KLHL25(dist=246692),LINC01584(dist=41695) U6(dist=219693),5S_rRNA(dist=96619) ENSG00000259608(dist=82679),ENSG00000260758(dist=37093) Na Na Na Na Na Na Het;G>A 41;6|4 Ref Hom;G>A 109;0|5 N N - 15 86623194 86623194 C T snp upstream ENSG00000260758 rs11635881 0.391973 0 0 1 0 0 intergenic intergenic upstream KLHL25(dist=285005),LINC01584(dist=3382) U6(dist=258006),5S_rRNA(dist=58306) ENSG00000260758 Na Na Na Na Na Na Het;C>T 722;25|30 Het;C>T 817;45|39 Hom;C>T 1367;0|50 N N - 15 87267707 87267707 A G snp intronic AGBL1 Agbl1 ENSG00000273540 ATP/GTP binding protein like 1 chr15:86685227-87572283 Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013] Schizophrenia; Life Expectancy; Erythrocyte Count; Brain; Cholesterol, LDL; Erythrocytes; Waist Circumference; Cytomegalovirus Vaccines; Hip; Lipoproteins; Antidepressive Agents; Insulin; Body Weights and Measures; schizophrenia; Glucose; Migraine without Aura; Tobacco Use Disorder; Menopause Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035609;C-terminal protein deglutamylation;ISS|GO:0035610;protein side chain deglutamylation;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL1 https://hpo.jax.org/app/browse/search?q=AGBL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615496 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL1&submit=Quick%0D%20943ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL1 rs11073659 0.324281 0 0 1 0 0 intronic intronic intronic AGBL1 AGBL1 ENSG00000166748 Na Na Na Na Na Na Het;A>G 2740;127|128 Het;A>G 2325;135|116 Hom;A>G 5300;1|199 N N - 15 87317670 87317670 G A snp intronic AGBL1 Agbl1 ENSG00000273540 ATP/GTP binding protein like 1 chr15:86685227-87572283 Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013] Schizophrenia; Life Expectancy; Erythrocyte Count; Brain; Cholesterol, LDL; Erythrocytes; Waist Circumference; Cytomegalovirus Vaccines; Hip; Lipoproteins; Antidepressive Agents; Insulin; Body Weights and Measures; schizophrenia; Glucose; Migraine without Aura; Tobacco Use Disorder; Menopause Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035609;C-terminal protein deglutamylation;ISS|GO:0035610;protein side chain deglutamylation;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL1 https://hpo.jax.org/app/browse/search?q=AGBL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615496 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL1&submit=Quick%0D%20943ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL1 rs12899293 0.546126 0 0 1 0 0 intronic intronic intronic AGBL1 AGBL1 ENSG00000166748 Na Na Na Na Na Na Het;G>A 1275;30|53 Het;G>A 1584;26|71 Hom;G>A 2673;0|105 N N - 15 87771994 87771994 C T snp intergenic AGBL1 Agbl1 ENSG00000273540 ATP/GTP binding protein like 1 chr15:86685227-87572283 Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013] Schizophrenia; Life Expectancy; Erythrocyte Count; Brain; Cholesterol, LDL; Erythrocytes; Waist Circumference; Cytomegalovirus Vaccines; Hip; Lipoproteins; Antidepressive Agents; Insulin; Body Weights and Measures; schizophrenia; Glucose; Migraine without Aura; Tobacco Use Disorder; Menopause Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035609;C-terminal protein deglutamylation;ISS|GO:0035610;protein side chain deglutamylation;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL1 https://hpo.jax.org/app/browse/search?q=AGBL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615496 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL1&submit=Quick%0D%20943ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL1 rs57080083 0.385383 0 0 1 0 0 intergenic intergenic intergenic AGBL1(dist=199711),LINC00052(dist=348166) AGBL1(dist=199711),LINC00052(dist=348166) ENSG00000259761(dist=181602),ENSG00000259560(dist=203295) Na Na Na Na Na Na Het;C>T 158;9|6 Het;C>T 213;2|7 Hom;C>T 538;0|17 N N - 15 88864333 88864333 A C snp intergenic NTRK3-AS1 rs11631531 0.485623 0 0 1 0 0 intergenic intergenic intergenic NTRK3-AS1(dist=50036),MRPL46(dist=138376) NTRK3-AS1(dist=50036),MRPL46(dist=138375) ENSG00000260305(dist=50036),ENSG00000259494(dist=138374) Na Na Na Na Na Na Het;A>C 1424;79|67 Het;A>C 1221;74|60 Hom;A>C 3289;0|121 N N - 15 89045769 89045769 C G snp ncRNA_exonic AX746605 rs7172599 0.234824 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic MRPS11(dist=23908),DET1(dist=9945) AX746605 ENSG00000271997 Na Na Na Na Na Na Het;C>G 899;58|41 Het;C>G 1046;48|45 Hom;C>G 2485;0|88 N N - 15 89054626 89054626 A G snp downstream DET1 Det1 ENSG00000140543 de-etiolated homolog 1 (Arabidopsis) chr15:89054790-89089906 Antigen processing: Ubiquitination & Proteasome degradation GO:0005634;nucleus;IEA http://www.genecards.org/index.php?path=/Search/keyword/DET1 https://www.uniprot.org/uniprot/Q7L5Y6 https://www.ncbi.nlm.nih.gov/omim/?term=608727 http://www.informatics.jax.org/searchtool/Search.do?query=DET1&submit=Quick%0D%8049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DET1 rs28630408 0.253994 0 0 1 0 0 intergenic downstream ncRNA_intronic MRPS11(dist=32765),DET1(dist=1088) DET1 ENSG00000173867 Na Na Na Na Na Na Het;A>G 786;33|34 Het;A>G 302;22|12 Hom;A>G 971;2|36 N N - 15 89071124 89071127 AAAC A indel intronic DET1 Det1 ENSG00000140543 de-etiolated homolog 1 (Arabidopsis) chr15:89054790-89089906 Antigen processing: Ubiquitination & Proteasome degradation GO:0005634;nucleus;IEA http://www.genecards.org/index.php?path=/Search/keyword/DET1 https://www.uniprot.org/uniprot/Q7L5Y6 https://www.ncbi.nlm.nih.gov/omim/?term=608727 http://www.informatics.jax.org/searchtool/Search.do?query=DET1&submit=Quick%0D%8049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DET1 rs142402351 0.242412 0 0 1 0 0 intronic intronic intronic DET1 DET1 ENSG00000140543 Na Na Na Na Na Na Het;-AAC 125;2|4 Het;-AAC 110;2|4 Hom;-AAC 187;0|5 N N - 15 89506335 89506335 A ATCCTTTCACTCTGCTGATTGTT indel intergenic MFGE8 Mfge8 ENSG00000140545 milk fat globule-EGF factor 8 protein chr15:89441916-89456642 This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] kidney aging; Lupus Erythematosus, Systemic Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis. Amyloid fiber formation GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFGE8 https://www.uniprot.org/uniprot/Q08431 https://www.ncbi.nlm.nih.gov/omim/?term=602281 http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8 rs369117831 0.338658 0 0 1 0 0 intergenic intergenic intergenic MFGE8(dist=49672),ABHD2(dist=125046) MFGE8(dist=49672),ABHD2(dist=125046) ENSG00000259489(dist=2058),ENSG00000265866(dist=9297) Na Na Na Na Na Na Het;+TCCTTTCACTCTGCTGATTGTT 41;2|1 Ref Hom;+TCCTTTCACTCTGCTGATTGTT 188;0|3 N N - 15 89532662 89532662 A T snp downstream AC107954.1 rs7179012 0.47524 0 0 1 0 0 intergenic intergenic downstream MFGE8(dist=75999),ABHD2(dist=98719) MFGE8(dist=75999),ABHD2(dist=98719) ENSG00000261549 Na Na Na Na Na Na Het;A>T 215;11|8 Ref Hom;A>T 232;0|8 N N - 15 89532776 89532776 C T snp ncRNA_exonic AC107954.1 rs10852116 0.290735 0 0 1 0 0 intergenic intergenic ncRNA_exonic MFGE8(dist=76113),ABHD2(dist=98605) MFGE8(dist=76113),ABHD2(dist=98605) ENSG00000261549 Na Na Na Na Na Na Het;C>T 597;31|28 Ref Hom;C>T 1574;0|58 N N - 15 89533096 89533096 T C snp ncRNA_exonic AC107954.1 rs12440535 0.286741 0 0 1 0 0 intergenic intergenic ncRNA_exonic MFGE8(dist=76433),ABHD2(dist=98285) MFGE8(dist=76433),ABHD2(dist=98285) ENSG00000261549 Na Na Na Na Na Na Het;T>C 1718;31|67 Ref Hom;T>C 2592;2|98 N N - 15 89533231 89533231 A G snp ncRNA_exonic AC107954.1 rs12914174 0.286941 0 0 1 0 0 intergenic intergenic ncRNA_exonic MFGE8(dist=76568),ABHD2(dist=98150) MFGE8(dist=76568),ABHD2(dist=98150) ENSG00000261549 Na Na Na Na Na Na Het;A>G 1097;38|46 Ref Hom;A>G 2425;0|87 N N - 15 89533536 89533536 T TGGCGGG indel upstream AC107954.1 rs146617613 0.270367 0 0 1 0 0 intergenic intergenic upstream MFGE8(dist=76873),ABHD2(dist=97845) MFGE8(dist=76873),ABHD2(dist=97845) ENSG00000261549 Na Na Na Na Na Na Het;+GGCGGG 440;2|12 Ref Hom;+GGCGGG 593;0|14 N N - 15 89856047 89856048 TA T indel intronic FANCI Fanci ENSG00000140525 Fanconi anemia complementation group I chr15:89787180-89860492 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer TP53 Regulates Transcription of DNA Repair Genes GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007095;mitotic G2 DNA damage checkpoint;IBA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0036297;interstrand cross-link repair;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCI https://www.uniprot.org/uniprot/Q9NVI1 https://hpo.jax.org/app/browse/search?q=FANCI&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611360 http://www.informatics.jax.org/searchtool/Search.do?query=FANCI&submit=Quick%0D%8044ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCI rs11321073 0.617212 0 0 1 0 0 intronic intronic intronic FANCI FANCI ENSG00000140525 Na Na Na Na Na Na Het;-A 326;5|22 Ref Hom;-A 257;2|16 N N - 15 90119614 90119614 G C snp ncRNA_intronic AC013391.2 rs11855211 0.398363 0 0 1 0 0 intronic intronic ncRNA_intronic TICRR TICRR ENSG00000259713 Na Na Na Na Na Na Het;G>C 110;7|5 Het;G>C 133;2|5 Hom;G>C 189;0|6 N N - 15 90126121 90126121 C T snp nonsynonymous SNV C859T R287C polar,hydrophilic,charged(+) polar,hydrophobic,neutral TICRR Ticrr ENSG00000140534 TOPBP1 interacting checkpoint and replication regulator chr15:90118713-90174287 Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010] Cholesterol, LDL; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail. GO:0000075;cell cycle checkpoint;ISS|GO:0001731;formation of translation preinitiation complex;ISS|GO:0006260;DNA replication;ISS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010212;response to ionizing radiation;ISS|GO:0030174;regulation of DNA-dependent DNA replication initiation;IMP|GO:0033314;mitotic DNA replication checkpoint;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TICRR https://www.uniprot.org/uniprot/Q7Z2Z1 https://www.ncbi.nlm.nih.gov/omim/?term=613298 http://www.informatics.jax.org/searchtool/Search.do?query=TICRR&submit=Quick%0D%8047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TICRR rs10775247 0.386581 0.4800 0.5120 0.08 1 13 exonic exonic exonic TICRR TICRR ENSG00000140534 nonsynonymous SNV nonsynonymous SNV unknown TICRR:NM_152259:exon2:c.C859T:p.R287C, TICRR:uc002boe.3:exon2:c.C859T:p.R287C,TICRR:uc021sug.1:exon2:c.C859T:p.R287C, UNKNOWN Het;C>T 1656;84|74 Het;C>T 1442;58|65 Hom;C>T 3845;6|146 N N - 15 90128834 90128834 G A snp ncRNA_intronic AC013391.2 rs11639246 0.364816 0 0 1 0 0 intronic intronic ncRNA_intronic TICRR TICRR ENSG00000259713 Na Na Na Na Na Na Het;G>A 260;10|9 Ref Hom;G>A 429;0|14 N N - 15 90128966 90128966 C T snp nonsynonymous SNV C1204T R402W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral TICRR Ticrr ENSG00000140534 TOPBP1 interacting checkpoint and replication regulator chr15:90118713-90174287 Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010] Cholesterol, LDL; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail. GO:0000075;cell cycle checkpoint;ISS|GO:0001731;formation of translation preinitiation complex;ISS|GO:0006260;DNA replication;ISS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010212;response to ionizing radiation;ISS|GO:0030174;regulation of DNA-dependent DNA replication initiation;IMP|GO:0033314;mitotic DNA replication checkpoint;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TICRR https://www.uniprot.org/uniprot/Q7Z2Z1 https://www.ncbi.nlm.nih.gov/omim/?term=613298 http://www.informatics.jax.org/searchtool/Search.do?query=TICRR&submit=Quick%0D%8047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TICRR rs11629584 0.361621 0.4447 0.4588 0.15 2 13 exonic exonic exonic TICRR TICRR ENSG00000140534 nonsynonymous SNV nonsynonymous SNV unknown TICRR:NM_152259:exon4:c.C1204T:p.R402W, TICRR:uc002boe.3:exon4:c.C1204T:p.R402W,TICRR:uc021sug.1:exon4:c.C1201T:p.R401W, UNKNOWN Het;C>T 1628;62|69 Het;C>T 1079;66|50 Hom;C>T 2904;0|103 N N - 15 90135172 90135172 C T snp ncRNA_exonic AC013391.2 rs35892197 0.356829 0 0 1 0 0 intronic intronic ncRNA_exonic TICRR TICRR ENSG00000259713 Na Na Na Na Na Na Het;C>T 241;9|8 Het;C>T 162;6|6 Hom;C>T 613;0|17 N N - 15 90172133 90172133 C G snp intronic KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs12914042 0.423323 0 0 1 0 0 intronic intronic intronic KIF7 KIF7 ENSG00000140534,ENSG00000166813 Na Na Na Na Na Na Het;C>G 1027;40|36 Het;C>G 688;23|24 Hom;C>G 1299;0|40 N N - 15 90172419 90172441 GGGGTGGGGGCTGTGGGCTGGGT G indel intronic KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs143394914 0.511581 0 0 1 0 0 intronic intronic intronic KIF7 KIF7 ENSG00000140534,ENSG00000166813 Na Na Na Na Na Na Het;-GGGTGGGGGCTGTGGGCTGGGT 861;10|24 Het;-GGGTGGGGGCTGTGGGCTGGGT 1463;14|39 Hom;-GGGTGGGGGCTGTGGGCTGGGT 1815;0|42 N N - 15 90173734 90173734 C CAG indel UTR3 *1170C>CAG TICRR Ticrr ENSG00000140534 TOPBP1 interacting checkpoint and replication regulator chr15:90118713-90174287 Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010] Cholesterol, LDL; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail. GO:0000075;cell cycle checkpoint;ISS|GO:0001731;formation of translation preinitiation complex;ISS|GO:0006260;DNA replication;ISS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0010212;response to ionizing radiation;ISS|GO:0030174;regulation of DNA-dependent DNA replication initiation;IMP|GO:0033314;mitotic DNA replication checkpoint;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TICRR https://www.uniprot.org/uniprot/Q7Z2Z1 https://www.ncbi.nlm.nih.gov/omim/?term=613298 http://www.informatics.jax.org/searchtool/Search.do?query=TICRR&submit=Quick%0D%8047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TICRR rs35820949 0.492212 0.5743 0.5473 1 0 0 intronic intronic UTR3 KIF7 KIF7 ENSG00000140534(ENST00000561095:c.*1170C>CAG) Na Na Na Na Na Na Het;+AG 1937;63|53 Het;+AG 2080;44|55 Hom;+AG 4735;2|111 N N - 15 90174789 90174789 C T snp synonymous SNV G3048A S1016S polar,hydrophilic,neutral polar,hydrophilic,neutral KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs9672286 0.451078 0.5447 0.5270 1 0 0 exonic exonic exonic KIF7 KIF7 ENSG00000166813 synonymous SNV synonymous SNV unknown KIF7:NM_198525:exon15:c.G3048A:p.S1016S, KIF7:uc010upw.1:exon10:c.G1506A:p.S502S,KIF7:uc002bof.2:exon15:c.G3048A:p.S1016S, UNKNOWN Het;C>T 850;49|40 Het;C>T 1055;44|49 Hom;C>T 2100;0|77 N N - 15 90174824 90174824 C T snp nonsynonymous SNV G1471A G491R aliphatic,neutral polar,hydrophilic,charged(+) KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs12900805 0.439297 0.5313 0.5128 0.15 2 13 exonic exonic exonic KIF7 KIF7 ENSG00000166813 nonsynonymous SNV nonsynonymous SNV unknown KIF7:NM_198525:exon15:c.G3013A:p.G1005R, KIF7:uc010upw.1:exon10:c.G1471A:p.G491R,KIF7:uc002bof.2:exon15:c.G3013A:p.G1005R, UNKNOWN Het;C>T 730;44|33 Het;C>T 802;37|37 Hom;C>T 1730;0|61 N N - 15 90174955 90174955 C T snp intronic KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs9672296 0.451078 0.5593 0.5416 1 0 0 intronic intronic intronic KIF7 KIF7 ENSG00000166813 Na Na Na Na Na Na Het;C>T 831;22|37 Het;C>T 593;33|31 Hom;C>T 1745;0|66 N N - 15 90176073 90176073 C A snp nonsynonymous SNV G1331T S444I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs3803530 0.438299 0.5373 0.5255 0.31 4 13 exonic exonic exonic KIF7 KIF7 ENSG00000166813 nonsynonymous SNV nonsynonymous SNV unknown KIF7:NM_198525:exon14:c.G2873T:p.S958I, KIF7:uc010upw.1:exon9:c.G1331T:p.S444I,KIF7:uc002bof.2:exon14:c.G2873T:p.S958I, UNKNOWN Het;C>A 239;29|14 Het;C>A 345;43|22 Hom;C>A 814;0|31 N N - 15 90177159 90177159 C T snp intronic KIF7 Kif7 ENSG00000166813 kinesin family member 7 chr15:90152020-90198682 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Autosomal Recessive Mental Retardation Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. Hedgehog 'on' state GO:0007018;microtubule-based movement;IBA|GO:0045879;negative regulation of smoothened signaling pathway;ISS|GO:0045880;positive regulation of smoothened signaling pathway;ISS GO:0005871;kinesin complex;IBA|GO:0005929;cilium;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF7 https://hpo.jax.org/app/browse/search?q=KIF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611254 http://www.informatics.jax.org/searchtool/Search.do?query=KIF7&submit=Quick%0D%11869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF7 rs11633151 0.435903 0.5315 0.5321 1 0 0 intronic intronic intronic KIF7 KIF7 ENSG00000166813 Na Na Na Na Na Na Het;C>T 1027;68|45 Het;C>T 1034;65|47 Hom;C>T 3387;2|128 N N - 15 90342353 90342353 G A snp intronic ANPEP Anpep ENSG00000166825 alanyl aminopeptidase, membrane chr15:90328120-90358633 Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/ANPEP https://www.ncbi.nlm.nih.gov/omim/?term=151530 http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP rs8035491 0.393371 0 0 1 0 0 intronic intronic intronic ANPEP ANPEP ENSG00000166825 Na Na Na Na Na Na Het;G>A 267;6|11 Het;G>A 130;7|6 Hom;G>A 276;0|8 N N - 15 90346861 90346861 C T snp unknown ANPEP Anpep ENSG00000166825 alanyl aminopeptidase, membrane chr15:90328120-90358633 Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/ANPEP https://www.ncbi.nlm.nih.gov/omim/?term=151530 http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP rs2305443 0.455671 0.4883 0.4594 1 0 0 intronic intronic exonic ANPEP ANPEP ENSG00000166825 Na Na unknown Na Na UNKNOWN Het;C>T 1181;57|52 Ref Hom;C>T 2543;0|87 N N - 15 90777267 90777267 G A snp UTR5 -6874G>A GDPGP1 Gdpgp1 ENSG00000183208 GDP-D-glucose phosphorylase 1 chr15:90777040-90785315 GO:0006006;glucose metabolic process;IMP|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IBA GO:0000166;nucleotide binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0080048;GDP-D-glucose phosphorylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GDPGP1 http://www.informatics.jax.org/searchtool/Search.do?query=GDPGP1&submit=Quick%0D%14944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDPGP1 rs8025979 0.298323 0 0 1 0 0 UTR5 UTR5 UTR5 CIB1(NM_006384:c.-150C>T,NM_001277764:c.-150C>T) CIB1(uc031qtp.1:c.-150C>T,uc002bpb.4:c.-150C>T,uc031qtq.1:c.-3041C>T) ENSG00000183208(ENST00000558017:c.-6874G>A),ENSG00000185043(ENST00000328649:c.-150C>T) Na Na Na Na Na Na Het;G>A 848;28|34 Ref Hom;G>A 2043;0|72 N N - 15 90837691 90837691 C G snp downstream DQ578199 rs2003172 0.500998 0 0 1 0 0 intergenic downstream ncRNA_intronic NGRN(dist=22248),GABARAPL3(dist=52072) DQ578199 ENSG00000214433 Na Na Na Na Na Na Het;C>G 2054;55|54 Ref Hom;C>G 5532;0|125 N N - 15 90837693 90837693 G A snp downstream DQ578199 rs2003173 0.500998 0 0 1 0 0 intergenic downstream ncRNA_intronic NGRN(dist=22250),GABARAPL3(dist=52070) DQ578199 ENSG00000214433 Na Na Na Na Na Na Het;G>A 2054;55|53 Ref Hom;G>A 5532;0|123 N N - 15 91591083 91591086 ACTC A indel intergenic LOC101926911 rs146037727 0 0 0 1 0 0 intergenic intergenic intergenic LOC101926911(dist=16714),SV2B(dist=52096) AK055351(dist=16713),SV2B(dist=52096) ENSG00000214432(dist=11242),ENSG00000185518(dist=52094) Na Na Na Na Na Na Het;-CTC 77;4|3 Ref Hom;-CTC 143;0|4 N N - 15 92088023 92088023 A C snp ncRNA_intronic CRAT37 rs7496505 0.714657 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101926928(dist=49943),SLCO3A1(dist=308915) BC036442(dist=49943),TRNA_Pseudo(dist=166279) ENSG00000258551 Na Na Na Na Na Na Het;A>C 1543;36|37 Ref Hom;A>C 1907;0|40 N N - 15 92088026 92088026 A G snp ncRNA_intronic CRAT37 rs4273015 0.684904 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101926928(dist=49946),SLCO3A1(dist=308912) BC036442(dist=49946),TRNA_Pseudo(dist=166276) ENSG00000258551 Na Na Na Na Na Na Het;A>G 1691;37|42 Ref Hom;A>G 2093;0|43 N N - 15 92088041 92088041 G A snp ncRNA_intronic CRAT37 rs4509991 0.631789 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101926928(dist=49961),SLCO3A1(dist=308897) BC036442(dist=49961),TRNA_Pseudo(dist=166261) ENSG00000258551 Na Na Na Na Na Na Het;G>A 1726;49|48 Ref Hom;G>A 2781;0|76 N N - 15 92088261 92088262 TC T indel ncRNA_intronic CRAT37 rs35192845 0.684105 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101926928(dist=50181),SLCO3A1(dist=308676) BC036442(dist=50181),TRNA_Pseudo(dist=166040) ENSG00000258551 Na Na Na Na Na Na Het;-C 144;5|6 Ref Hom;-C 320;0|10 N N - 15 92647645 92647645 G C snp nonsynonymous SNV G882C E294D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SLCO3A1 Slco3a1 ENSG00000176463 solute carrier organic anion transporter family member 3A1 chr15:92396925-92715665 response to iloperidone treatment (QT prolongation); Precursor Cell Lymphoblastic Leukemia-Lymphoma; Calcium; schizophrenia; Attention Deficit Disorder with Hyperactivity; Hypertension; Erythrocyte Count; Isoxazoles; inattentive symptoms; Tobacco Use Disorder Mice for a null endonuclease-mediated mutation exhibit shorter survival times, increased hepatic levels of bile acid, and develop more liver injury after induction of cholestasis. Transport of organic anions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0043252;sodium-independent organic anion transport;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015347;sodium-independent organic anion transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLCO3A1 https://www.ncbi.nlm.nih.gov/omim/?term=612435 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO3A1&submit=Quick%0D%13863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO3A1 rs1517618 0.902556 0.8511 0.8635 0.15 2 13 exonic exonic exonic SLCO3A1 SLCO3A1 ENSG00000176463 nonsynonymous SNV nonsynonymous SNV unknown SLCO3A1:NM_001145044:exon4:c.G882C:p.E294D,SLCO3A1:NM_013272:exon4:c.G882C:p.E294D, SLCO3A1:uc002bqy.2:exon4:c.G882C:p.E294D,SLCO3A1:uc002bqx.2:exon4:c.G882C:p.E294D,SLCO3A1:uc002bqz.1:exon5:c.G708C:p.E236D, UNKNOWN Het;G>C 1609;84|71 Het;G>C 1866;82|84 Hom;G>C 3612;0|133 N N - 15 93277429 93277429 C G snp intronic FAM174B Fam174b ENSG00000185442 family with sequence similarity 174 member B chr15:93160673-93353114 HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM174B http://www.informatics.jax.org/searchtool/Search.do?query=FAM174B&submit=Quick%0D%15416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM174B rs12442748 0 0 0 1 0 0 intergenic intergenic intronic FAM174B(dist=78398),ASB9P1(dist=61285) NONE(dist=NONE),ASB9P1(dist=61285) ENSG00000185442 Na Na Na Na Na Na Het;C>G 573;16|17 Ref Hom;C>G 1109;0|30 N N - 15 93277450 93277454 GCCTC G indel intronic FAM174B Fam174b ENSG00000185442 family with sequence similarity 174 member B chr15:93160673-93353114 HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM174B http://www.informatics.jax.org/searchtool/Search.do?query=FAM174B&submit=Quick%0D%15416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM174B rs56380044 0 0 0 1 0 0 intergenic intergenic intronic FAM174B(dist=78419),ASB9P1(dist=61260) NONE(dist=NONE),ASB9P1(dist=61260) ENSG00000185442 Na Na Na Na Na Na Het;-CCTC 488;14|13 Ref Hom;-CCTC 818;0|17 N N - 15 93277456 93277458 GCC G indel intronic FAM174B Fam174b ENSG00000185442 family with sequence similarity 174 member B chr15:93160673-93353114 HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM174B http://www.informatics.jax.org/searchtool/Search.do?query=FAM174B&submit=Quick%0D%15416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM174B rs55648430 0 0 0 1 0 0 intergenic intergenic intronic FAM174B(dist=78425),ASB9P1(dist=61256) NONE(dist=NONE),ASB9P1(dist=61256) ENSG00000185442 Na Na Na Na Na Na Het;-CC 470;13|13 Ref Hom;-CC 753;0|18 N N - 15 93277514 93277514 T C snp intronic FAM174B Fam174b ENSG00000185442 family with sequence similarity 174 member B chr15:93160673-93353114 HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM174B http://www.informatics.jax.org/searchtool/Search.do?query=FAM174B&submit=Quick%0D%15416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM174B rs12441089 0.542133 0 0 1 0 0 intergenic intergenic intronic FAM174B(dist=78483),ASB9P1(dist=61200) NONE(dist=NONE),ASB9P1(dist=61200) ENSG00000185442 Na Na Na Na Na Na Het;T>C 61;7|3 Ref Hom;T>C 263;0|7 N N - 15 94354834 94354834 T G snp ncRNA_intronic LINC01579 rs28702393 0 0 0 1 0 0 intergenic intronic ncRNA_intronic RGMA(dist=722391),LOC101927153(dist=44955) BC037497 ENSG00000258754 Na Na Na Na Na Na Het;T>G 179;1|5 Ref Hom;T>G 152;0|4 N N - 15 94354835 94354835 G GCGGGGGGC indel ncRNA_intronic LINC01579 Na 0 0 0 1 0 0 intergenic intronic ncRNA_intronic RGMA(dist=722392),LOC101927153(dist=44954) BC037497 ENSG00000258754 Na Na Na Na Na Na Het;+CGGGGGGC 170;1|5 Ref Hom;+CGGGGGGC 143;0|4 N N - 15 94858686 94858686 G A snp intronic MCTP2 Mctp2 ENSG00000140563 multiple C2 and transmembrane domain containing 2 chr15:94774767-95023632 Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA GO:0005509;calcium ion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MCTP2 https://www.uniprot.org/uniprot/Q6DN12 https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616297 http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2 rs1655455 0.478435 0 0 1 0 0 intronic intronic intronic MCTP2 MCTP2 ENSG00000140563 Na Na Na Na Na Na Het;G>A 675;11|23 Het;G>A 251;13|10 Hom;G>A 566;0|19 N N - 15 94942081 94942081 C T snp intronic MCTP2 Mctp2 ENSG00000140563 multiple C2 and transmembrane domain containing 2 chr15:94774767-95023632 Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA GO:0005509;calcium ion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MCTP2 https://www.uniprot.org/uniprot/Q6DN12 https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616297 http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2 rs7495471 0.46226 0 0 1 0 0 intronic intronic intronic MCTP2 MCTP2 ENSG00000140563 Na Na Na Na Na Na Het;C>T 256;5|10 Ref Hom;C>T 419;0|13 N N - 15 94945324 94945324 G A snp intronic MCTP2 Mctp2 ENSG00000140563 multiple C2 and transmembrane domain containing 2 chr15:94774767-95023632 Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA GO:0005509;calcium ion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MCTP2 https://www.uniprot.org/uniprot/Q6DN12 https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616297 http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2 rs6497203 0.426518 0 0 1 0 0 intronic intronic intronic MCTP2 MCTP2 ENSG00000140563 Na Na Na Na Na Na Het;G>A 334;10|14 Ref Hom;G>A 825;1|29 N N - 15 94945719 94945719 G T snp nonsynonymous SNV G854T R285L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral MCTP2 Mctp2 ENSG00000140563 multiple C2 and transmembrane domain containing 2 chr15:94774767-95023632 Behcet Syndrome; Conduct Disorder; Myocardial Infarction; Echocardiography; Body Weight; depression; Memory; Coronary Artery Disease; Blood Pressure Determination; schizophrenia; Alkaline Phosphatase; Triglycerides; Aorta; Body Mass Index; von Willebrand Factor; drug-induced liver injury (flucloxacillin); Cholesterol, HDL; Death, Sudden, Cardiac; Cognitive performance ; Tobacco Use Disorder; Lipids; Hip; Alcoholism; Drug-Induced Liver Injury; Hypertrophy, Left Ventricular; Coronary Disease; C-Reactive Protein; Body Composition GO:0007275;multicellular organism development;IEA|GO:0019722;calcium-mediated signaling;NAS GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA GO:0005509;calcium ion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MCTP2 https://www.uniprot.org/uniprot/Q6DN12 https://hpo.jax.org/app/browse/search?q=MCTP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616297 http://www.informatics.jax.org/searchtool/Search.do?query=MCTP2&submit=Quick%0D%8054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP2 rs7178698 0.620407 0.7312 0.7175 0.09 1 11 exonic exonic exonic MCTP2 MCTP2 ENSG00000140563 nonsynonymous SNV nonsynonymous SNV unknown MCTP2:NM_001159644:exon10:c.G854T:p.R285L, MCTP2:uc002btk.4:exon10:c.G854T:p.R285L, UNKNOWN Het;G>T 1086;70|52 Ref Hom;G>T 4012;0|152 N N - 15 96300903 96300903 G T snp intergenic LINC00924 rs2163506 0.777556 0 0 1 0 0 intergenic intergenic intergenic LINC00924(dist=249827),NR2F2-AS1(dist=369686) LINC00924(dist=249827),JA429839(dist=314736) ENSG00000222076(dist=11680),ENSG00000259348(dist=270415) Na Na Na Na Na Na Het;G>T 44;2|2 Ref Hom;G>T 154;0|6 N N - 15 98351619 98351619 A C snp ncRNA_intronic LINC00923 rs7495982 0.647364 0 0 1 0 0 ncRNA_intronic intronic intronic LINC00923 LINC00923 ENSG00000251209 Na Na Na Na Na Na Het;A>C 114;6|5 Ref Hom;A>C 130;0|4 N N - 15 98351696 98351696 G A snp ncRNA_intronic LINC00923 rs4572368 0.645767 0 0 1 0 0 ncRNA_intronic intronic intronic LINC00923 LINC00923 ENSG00000251209 Na Na Na Na Na Na Het;G>A 319;10|16 Ref Hom;G>A 611;0|22 N N - 15 98351721 98351721 C T snp ncRNA_intronic LINC00923 rs4476156 0.646765 0 0 1 0 0 ncRNA_intronic intronic intronic LINC00923 LINC00923 ENSG00000251209 Na Na Na Na Na Na Het;C>T 368;16|18 Ref Hom;C>T 880;0|32 N N - 15 98417826 98417826 G C snp upstream LINC00923 rs67895232 0.248802 0 0 1 0 0 upstream upstream upstream LINC00923 LINC00923 ENSG00000251209 Na Na Na Na Na Na Het;G>C 65;3|3 Ref Hom;G>C 113;0|4 N N - 15 98504322 98504322 C T snp synonymous SNV C231T A77A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ARRDC4 Arrdc4 ENSG00000140450 arrestin domain containing 4 chr15:98462784-98517068 Cholesterol; Cholesterol, LDL; Echocardiography; Obesity; Coronary Artery Disease; Neurotic Disorders; Hemoglobin A, Glycosylated Mice homozygous for a knock-out allele show a marked reduction in the amount of extracellular vesicles (EVs) released from mouse gut explants. Mutant mouse embryonic fibroblasts exhibit reduced EV release. GO:0051443;positive regulation of ubiquitin-protein transferase activity;IPI GO:0005768;endosome;IDA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ARRDC4 https://www.uniprot.org/uniprot/Q8NCT1 http://www.informatics.jax.org/searchtool/Search.do?query=ARRDC4&submit=Quick%0D%8023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARRDC4 rs112100339 0.16873 0 0.2866 1 0 0 exonic exonic exonic ARRDC4 ARRDC4 ENSG00000140450 synonymous SNV synonymous SNV unknown ARRDC4:NM_183376:exon1:c.C231T:p.A77A, ARRDC4:uc010bom.3:exon1:c.C231T:p.A77A, UNKNOWN Het;C>T 685;10|30 Ref Hom;C>T 1392;0|31 N N - 15 98627021 98627023 CTG C indel ncRNA_intronic LINC01582 rs376664197 0.228235 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01582 ARRDC4(dist=109953),FAM169B(dist=353368) ENSG00000259199 Na Na Na Na Na Na Het;-TG 990;22|27 Ref Hom;-TG 2048;1|48 N N - 15 98962852 98962852 G A snp intergenic LINC01582 rs28634813 0.333866 0 0 1 0 0 intergenic intergenic intergenic LINC01582(dist=330870),FAM169B(dist=17539) ARRDC4(dist=445784),FAM169B(dist=17539) ENSG00000259199(dist=126446),ENSG00000185087(dist=17539) Na Na Na Na Na Na Het;G>A 67;2|4 Ref Hom;G>A 103;0|4 N N - 15 99456553 99456553 G A snp intronic IGF1R Igf1r ENSG00000140443 insulin like growth factor 1 receptor chr15:99192200-99507759 This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] premature pubarche; chronic obstructive pulmonary disease; intrauterine growth restriction; retinopathy of prematurity; prostate cancer; head and neck cancer; plasma HDL cholesterol (HDL-C) levels; bladder cancer; Brain Neoplasms|; kidney aging; Bone Diseases|Multiple Myeloma; Coronary Artery Disease; Hypertension; Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance|Metabolic Syndrome X; Iron; human longevity; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Breast Neoplasms|Mammary Neoplasms; Bone Mineral Density; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Obesity; hypertension; Respiratory Function Tests; bacteremia; diabetes, type 2; obesity; male longevity ; Abortion, Spontaneous; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; longevity; Alcoholism; Body Height; Alzheimer's disease dementia; breast cancer|prostate cancer; lung cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; lung cancer ; left ventricular mass in male athletes; Sleep; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Birth Weight|Retinopathy of Prematurity; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer; schizophrenia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer ; null; Chronic renal failure|Kidney Failure, Chronic; colorectal cancer; Lymphoma, Non-Hodgkin; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; birth weight; diabetes, type 2; Multiple Myeloma; Colonic Neoplasms|Microsatellite Instability; obesity; Alzheimer's disease ; epithelial ovarian cancer ; Stomach Neoplasms; Spinal Diseases; healthy oldest-old; cutaneous squamous cell carcinoma; breast cancer ; blood pressure, arterial Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. SHC-related events triggered by IGF1R GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014065;phosphatidylinositol 3-kinase signaling;IC|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045740;positive regulation of DNA replication;IMP|GO:0046328;regulation of JNK cascade;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048009;insulin-like growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0051262;protein tetramerization;IDA|GO:0051389;inactivation of MAPKK activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035867;alphav-beta3 integrin-IGF-1-IGF1R complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005010;insulin-like growth factor-activated receptor activity;IDA|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IGF1R https://www.uniprot.org/uniprot/P08069 https://hpo.jax.org/app/browse/search?q=IGF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147370 http://www.informatics.jax.org/searchtool/Search.do?query=IGF1R&submit=Quick%0D%8022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF1R rs951715 0.631589 0.6491 0.6396 1 0 0 intronic intronic intronic IGF1R IGF1R ENSG00000140443 Na Na Na Na Na Na Het;G>A 518;33|22 Ref Hom;G>A 1166;0|40 N N - 15 99465285 99465285 C T snp intronic IGF1R Igf1r ENSG00000140443 insulin like growth factor 1 receptor chr15:99192200-99507759 This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] premature pubarche; chronic obstructive pulmonary disease; intrauterine growth restriction; retinopathy of prematurity; prostate cancer; head and neck cancer; plasma HDL cholesterol (HDL-C) levels; bladder cancer; Brain Neoplasms|; kidney aging; Bone Diseases|Multiple Myeloma; Coronary Artery Disease; Hypertension; Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance|Metabolic Syndrome X; Iron; human longevity; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Breast Neoplasms|Mammary Neoplasms; Bone Mineral Density; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Obesity; hypertension; Respiratory Function Tests; bacteremia; diabetes, type 2; obesity; male longevity ; Abortion, Spontaneous; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; longevity; Alcoholism; Body Height; Alzheimer's disease dementia; breast cancer|prostate cancer; lung cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; lung cancer ; left ventricular mass in male athletes; Sleep; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Birth Weight|Retinopathy of Prematurity; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer; schizophrenia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer ; null; Chronic renal failure|Kidney Failure, Chronic; colorectal cancer; Lymphoma, Non-Hodgkin; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; birth weight; diabetes, type 2; Multiple Myeloma; Colonic Neoplasms|Microsatellite Instability; obesity; Alzheimer's disease ; epithelial ovarian cancer ; Stomach Neoplasms; Spinal Diseases; healthy oldest-old; cutaneous squamous cell carcinoma; breast cancer ; blood pressure, arterial Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. SHC-related events triggered by IGF1R GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014065;phosphatidylinositol 3-kinase signaling;IC|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045740;positive regulation of DNA replication;IMP|GO:0046328;regulation of JNK cascade;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048009;insulin-like growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0051262;protein tetramerization;IDA|GO:0051389;inactivation of MAPKK activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035867;alphav-beta3 integrin-IGF-1-IGF1R complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005010;insulin-like growth factor-activated receptor activity;IDA|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IGF1R https://www.uniprot.org/uniprot/P08069 https://hpo.jax.org/app/browse/search?q=IGF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147370 http://www.informatics.jax.org/searchtool/Search.do?query=IGF1R&submit=Quick%0D%8022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF1R rs2684806 0.236222 0 0 1 0 0 intronic intronic intronic IGF1R IGF1R ENSG00000140443 Na Na Na Na Na Na Het;C>T 277;5|9 Ref Hom;C>T 205;0|6 N N - 15 99466969 99466969 C G snp intronic IGF1R Igf1r ENSG00000140443 insulin like growth factor 1 receptor chr15:99192200-99507759 This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] premature pubarche; chronic obstructive pulmonary disease; intrauterine growth restriction; retinopathy of prematurity; prostate cancer; head and neck cancer; plasma HDL cholesterol (HDL-C) levels; bladder cancer; Brain Neoplasms|; kidney aging; Bone Diseases|Multiple Myeloma; Coronary Artery Disease; Hypertension; Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance|Metabolic Syndrome X; Iron; human longevity; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Breast Neoplasms|Mammary Neoplasms; Bone Mineral Density; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Obesity; hypertension; Respiratory Function Tests; bacteremia; diabetes, type 2; obesity; male longevity ; Abortion, Spontaneous; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; longevity; Alcoholism; Body Height; Alzheimer's disease dementia; breast cancer|prostate cancer; lung cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; lung cancer ; left ventricular mass in male athletes; Sleep; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Birth Weight|Retinopathy of Prematurity; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer; schizophrenia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer ; null; Chronic renal failure|Kidney Failure, Chronic; colorectal cancer; Lymphoma, Non-Hodgkin; esophageal adenocarcinoma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; birth weight; diabetes, type 2; Multiple Myeloma; Colonic Neoplasms|Microsatellite Instability; obesity; Alzheimer's disease ; epithelial ovarian cancer ; Stomach Neoplasms; Spinal Diseases; healthy oldest-old; cutaneous squamous cell carcinoma; breast cancer ; blood pressure, arterial Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. SHC-related events triggered by IGF1R GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;IMP|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014065;phosphatidylinositol 3-kinase signaling;IC|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0038083;peptidyl-tyrosine autophosphorylation;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045740;positive regulation of DNA replication;IMP|GO:0046328;regulation of JNK cascade;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048009;insulin-like growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0051262;protein tetramerization;IDA|GO:0051389;inactivation of MAPKK activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035867;alphav-beta3 integrin-IGF-1-IGF1R complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005010;insulin-like growth factor-activated receptor activity;IDA|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IGF1R https://www.uniprot.org/uniprot/P08069 https://hpo.jax.org/app/browse/search?q=IGF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147370 http://www.informatics.jax.org/searchtool/Search.do?query=IGF1R&submit=Quick%0D%8022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF1R rs2715429 0.841054 0 0 1 0 0 intronic intronic intronic IGF1R IGF1R ENSG00000140443 Na Na Na Na Na Na Het;C>G 71;5|3 Ref Hom;C>G 221;0|6 N N - 15 99511873 99511873 G A snp nonsynonymous SNV C263T A88V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PGPEP1L Pgpep1l ENSG00000183571 pyroglutamyl-peptidase I-like chr15:99511459-99551024 Glucose GO:0006508;proteolysis;IEA GO:0005829;cytosol;IBA GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016920;pyroglutamyl-peptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PGPEP1L http://www.informatics.jax.org/searchtool/Search.do?query=PGPEP1L&submit=Quick%0D%15013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PGPEP1L rs2715423 0.127396 0.2142 0.2995 0.46 6 13 exonic exonic exonic PGPEP1L PGPEP1L ENSG00000183571 nonsynonymous SNV nonsynonymous SNV unknown PGPEP1L:NM_001102612:exon5:c.C425T:p.A142V,PGPEP1L:NM_001167902:exon5:c.C263T:p.A88V, PGPEP1L:uc002bun.3:exon5:c.C263T:p.A88V,PGPEP1L:uc010bop.3:exon4:c.C259T:p.R87W,PGPEP1L:uc002bum.3:exon5:c.C425T:p.A142V, UNKNOWN Het;G>A 1658;92|77 Ref Hom;G>A 3554;2|129 N N - 16 10131942 10131942 C CA indel intronic GRIN2A Grin2a ENSG00000183454 glutamate ionotropic receptor NMDA type subunit 2A chr16:9852376-10276611 This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] alcohol consumption; Autism; ADHD | attention-deficit hyperactivity disorder; bipolar disorder; Huntington's disease; Breath Tests; Tunica Media; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis; smoking cessation; Myocardial Infarction; Hepatitis B; Weight Gain; HIV-1; Narcolepsy; several psychiatric disorders; schizophrenia; schizophrenia; d-serine; smoking; Psychiatric Disorders; Bulimia; Eosinophils; Alcoholism Homozygotes for targeted null mutations exhibit jumpiness, mildly impaired long-term potentiation and spatial learning, increased locomotor activity and metabolism of dopamine and serotonin, and loss of analgesic tolerance after repeated morphine doses. Synaptic adhesion-like molecules GO:0000165;MAPK cascade;TAS|GO:0001964;startle response;IEA|GO:0001975;response to amphetamine;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007611;learning or memory;TAS|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0008104;protein localization;IEA|GO:0008542;visual learning;IEA|GO:0009611;response to wounding;IEA|GO:0019233;sensory perception of pain;IEA|GO:0022008;neurogenesis;IEA|GO:0030431;sleep;IEA|GO:0033058;directional locomotion;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0040011;locomotion;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042417;dopamine metabolic process;IEA|GO:0042428;serotonin metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045471;response to ethanol;IDA|GO:0048167;regulation of synaptic plasticity;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IDA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098839;postsynaptic density membrane;IEA|GO:0099061;integral component of postsynaptic density membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRIN2A https://hpo.jax.org/app/browse/search?q=GRIN2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138253 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN2A&submit=Quick%0D%14992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN2A rs35572349 0 0 0 1 0 0 intronic intronic intronic GRIN2A GRIN2A ENSG00000183454 Na Na Na Na Na Na Het;+A 800;37|26 Het;+A 433;40|16 Hom;+A 1864;0|48 N N - 16 10206426 10206426 G A snp ncRNA_exonic IMPDH1P11 rs34819762 0.303115 0 0 1 0 0 intronic intronic ncRNA_exonic GRIN2A GRIN2A ENSG00000261647 Na Na Na Na Na Na Het;G>A 47;4|4 Het;G>A 73;6|4 Hom;G>A 71;0|4 N N - 16 1024365 1024365 G A snp intronic LMF1 Lmf1 ENSG00000103227 lipase maturation factor 1 chr16:903634-1031318 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] Tobacco Use Disorder Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. Assembly of active LPL and LIPC lipase complexes GO:0006641;triglyceride metabolic process;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0009306;protein secretion;IEA|GO:0033578;protein glycosylation in Golgi;IEA|GO:0034382;chylomicron remnant clearance;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051006;positive regulation of lipoprotein lipase activity;IEA|GO:0051604;protein maturation;IEA|GO:0090181;regulation of cholesterol metabolic process;IEA|GO:0090207;regulation of triglyceride metabolic process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMF1 https://www.uniprot.org/uniprot/Q96S06 https://hpo.jax.org/app/browse/search?q=LMF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611761 http://www.informatics.jax.org/searchtool/Search.do?query=LMF1&submit=Quick%0D%2989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF1 rs71380227 0.236621 0 0 1 0 0 intergenic intronic intronic LMF1(dist=3381),SOX8(dist=7443) LMF1 ENSG00000103227 Na Na Na Na Na Na Het;G>A 50;2|2 Ref Hom;G>A 197;0|5 N N - 16 1024383 1024383 T C snp intronic LMF1 Lmf1 ENSG00000103227 lipase maturation factor 1 chr16:903634-1031318 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] Tobacco Use Disorder Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. Assembly of active LPL and LIPC lipase complexes GO:0006641;triglyceride metabolic process;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0009306;protein secretion;IEA|GO:0033578;protein glycosylation in Golgi;IEA|GO:0034382;chylomicron remnant clearance;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051006;positive regulation of lipoprotein lipase activity;IEA|GO:0051604;protein maturation;IEA|GO:0090181;regulation of cholesterol metabolic process;IEA|GO:0090207;regulation of triglyceride metabolic process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMF1 https://www.uniprot.org/uniprot/Q96S06 https://hpo.jax.org/app/browse/search?q=LMF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611761 http://www.informatics.jax.org/searchtool/Search.do?query=LMF1&submit=Quick%0D%2989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF1 rs71380228 0.236621 0 0 1 0 0 intergenic intronic intronic LMF1(dist=3399),SOX8(dist=7425) LMF1 ENSG00000103227 Na Na Na Na Na Na Het;T>C 50;2|2 Ref Hom;T>C 197;0|5 N N - 16 10275698 10275698 C T snp intronic GRIN2A Grin2a ENSG00000183454 glutamate ionotropic receptor NMDA type subunit 2A chr16:9852376-10276611 This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] alcohol consumption; Autism; ADHD | attention-deficit hyperactivity disorder; bipolar disorder; Huntington's disease; Breath Tests; Tunica Media; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis; smoking cessation; Myocardial Infarction; Hepatitis B; Weight Gain; HIV-1; Narcolepsy; several psychiatric disorders; schizophrenia; schizophrenia; d-serine; smoking; Psychiatric Disorders; Bulimia; Eosinophils; Alcoholism Homozygotes for targeted null mutations exhibit jumpiness, mildly impaired long-term potentiation and spatial learning, increased locomotor activity and metabolism of dopamine and serotonin, and loss of analgesic tolerance after repeated morphine doses. Synaptic adhesion-like molecules GO:0000165;MAPK cascade;TAS|GO:0001964;startle response;IEA|GO:0001975;response to amphetamine;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007611;learning or memory;TAS|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0008104;protein localization;IEA|GO:0008542;visual learning;IEA|GO:0009611;response to wounding;IEA|GO:0019233;sensory perception of pain;IEA|GO:0022008;neurogenesis;IEA|GO:0030431;sleep;IEA|GO:0033058;directional locomotion;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0040011;locomotion;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042417;dopamine metabolic process;IEA|GO:0042428;serotonin metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045471;response to ethanol;IDA|GO:0048167;regulation of synaptic plasticity;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IDA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098839;postsynaptic density membrane;IEA|GO:0099061;integral component of postsynaptic density membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRIN2A https://hpo.jax.org/app/browse/search?q=GRIN2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138253 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN2A&submit=Quick%0D%14992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN2A rs2302711 0.754393 0 0 1 0 0 intronic intronic intronic GRIN2A GRIN2A ENSG00000183454 Na Na Na Na Na Na Het;C>T 964;36|44 Het;C>T 1038;20|45 Hom;C>T 1378;0|53 N N - 16 10769958 10769958 T C snp nonsynonymous SNV A944G Q315R polar,hydrophilic,neutral polar,hydrophilic,charged(+) TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs2719710 0.634185 0.4813 0.5002 0.08 1 13 exonic exonic exonic TEKT5 TEKT5 ENSG00000153060 nonsynonymous SNV nonsynonymous SNV unknown TEKT5:NM_144674:exon5:c.A944G:p.Q315R, TEKT5:uc002czz.1:exon5:c.A944G:p.Q315R, UNKNOWN Het;T>C 2778;120|127 Ref Hom;T>C 5415;0|202 N N - 16 10770075 10770075 A G snp intronic TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs2719711 0.66853 0.5211 0.5200 1 0 0 intronic intronic intronic TEKT5 TEKT5 ENSG00000153060 Na Na Na Na Na Na Het;A>G 925;42|35 Ref Hom;A>G 1510;0|44 N N - 16 10770091 10770091 T C snp intronic TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs2719712 0.633986 0 0 1 0 0 intronic intronic intronic TEKT5 TEKT5 ENSG00000153060 Na Na Na Na Na Na Het;T>C 606;30|24 Ref Hom;T>C 1004;0|32 N N - 16 10775822 10775822 G T snp intronic TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs10221070 0.323482 0.3447 0.2970 1 0 0 intronic intronic intronic TEKT5 TEKT5 ENSG00000153060 Na Na Na Na Na Na Het;G>T 951;49|44 Ref Hom;G>T 2489;0|93 N N - 16 10776063 10776063 G T snp intronic TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs10221071 0.32508 0 0 1 0 0 intronic intronic intronic TEKT5 TEKT5 ENSG00000153060 Na Na Na Na Na Na Het;G>T 464;24|22 Ref Hom;G>T 448;0|16 N N - 16 10783113 10783113 A G snp nonsynonymous SNV T716C M239T hydrophobic,neutral polar,hydrophilic,neutral TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs17684500 0.0666933 0.0018 0.0358 0.46 6 13 exonic exonic exonic TEKT5 TEKT5 ENSG00000153060 nonsynonymous SNV nonsynonymous SNV unknown TEKT5:NM_144674:exon3:c.T716C:p.M239T, TEKT5:uc002czz.1:exon3:c.T716C:p.M239T, UNKNOWN Het;A>G 579;60|33 Ref Hom;A>G 1147;2|42 N N - 16 10783784 10783784 C A snp intronic TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs1344517 0.0666933 0.0018 0.0361 1 0 0 intronic intronic intronic TEKT5 TEKT5 ENSG00000153060 Na Na Na Na Na Na Het;C>A 467;32|22 Ref Hom;C>A 1304;0|47 N N - 16 1096075 1096075 A G snp intergenic SOX8 Sox8 ENSG00000005513 SRY-box 8 chr16:1031808-1036979 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008] Multiple Sclerosis Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001755;neural crest cell migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0007283;spermatogenesis;IEA|GO:0007422;peripheral nervous system development;IEA|GO:0008584;male gonad development;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010817;regulation of hormone levels;IEA|GO:0014015;positive regulation of gliogenesis;IEA|GO:0033690;positive regulation of osteoblast proliferation;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045165;cell fate commitment;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048469;cell maturation;IEA|GO:0048484;enteric nervous system development;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0060009;Sertoli cell development;IEA|GO:0060018;astrocyte fate commitment;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060221;retinal rod cell differentiation;IEA|GO:0060612;adipose tissue development;IEA|GO:0061138;morphogenesis of a branching epithelium;IEA|GO:0072034;renal vesicle induction;IEA|GO:0072197;ureter morphogenesis;IEA|GO:0072289;metanephric nephron tubule formation;IEA|GO:0090184;positive regulation of kidney development;IEA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0044798;nuclear transcription factor complex;IEA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOX8 https://www.uniprot.org/uniprot/P57073 https://www.ncbi.nlm.nih.gov/omim/?term=605923 http://www.informatics.jax.org/searchtool/Search.do?query=SOX8&submit=Quick%0D%369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX8 rs4984758 0.435503 0 0 1 0 0 intergenic intergenic intergenic SOX8(dist=59096),SSTR5-AS1(dist=18007) SOX8(dist=59096),SSTR5-AS1(dist=18007) ENSG00000260496(dist=45149),ENSG00000261713(dist=18018) Na Na Na Na Na Na Het;A>G 69;1|4 Het;A>G 126;1|5 Hom;A>G 108;0|5 N N - 16 11367154 11367154 C T snp nonsynonymous SNV G299A R100Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral PRM3 Prm3 ENSG00000178257 protamine 3 chr16:11367144-11367452 Infertility, Male; type 1 diabetes Males that are null homozygous for this gene have reduced sperm motility. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0030261;chromosome condensation;IEA|GO:0030317;flagellated sperm motility;IEA GO:0000786;nucleosome;IEA|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRM3 http://www.informatics.jax.org/searchtool/Search.do?query=PRM3&submit=Quick%0D%14162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRM3 rs429744 0.770168 0.8963 0.8790 0.10 1 10 exonic exonic exonic PRM3 PRM3 ENSG00000178257 nonsynonymous SNV nonsynonymous SNV unknown PRM3:NM_021247:exon1:c.G299A:p.R100Q, PRM3:uc002dat.1:exon1:c.G299A:p.R100Q, UNKNOWN Het;C>T 458;15|15 Het;C>T 444;12|13 Hom;C>T 1695;0|41 N N - 16 11850003 11850003 A G snp intronic ZC3H7A Zc3h7a ENSG00000122299 zinc finger CCCH-type containing 7A chr16:11844442-11891123 QT interval; Alcohol Drinking; Triglycerides GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H7A https://www.uniprot.org/uniprot/Q8IWR0 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H7A&submit=Quick%0D%5399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H7A rs7198247 0.757588 0 0 1 0 0 intronic intronic intronic ZC3H7A ZC3H7A ENSG00000122299 Na Na Na Na Na Na Het;A>G 267;25|13 Het;A>G 354;8|14 Hom;A>G 928;0|33 N N - 16 11859341 11859341 A G snp intronic ZC3H7A Zc3h7a ENSG00000122299 zinc finger CCCH-type containing 7A chr16:11844442-11891123 QT interval; Alcohol Drinking; Triglycerides GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H7A https://www.uniprot.org/uniprot/Q8IWR0 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H7A&submit=Quick%0D%5399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H7A rs7199993 0.74381 0.6282 0.6130 1 0 0 intronic intronic intronic ZC3H7A ZC3H7A ENSG00000122299 Na Na Na Na Na Na Het;A>G 662;24|30 Het;A>G 629;17|25 Hom;A>G 953;0|34 N N - 16 11861199 11861199 C CT indel intronic ZC3H7A Zc3h7a ENSG00000122299 zinc finger CCCH-type containing 7A chr16:11844442-11891123 QT interval; Alcohol Drinking; Triglycerides GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H7A https://www.uniprot.org/uniprot/Q8IWR0 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H7A&submit=Quick%0D%5399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H7A rs397809363 0.746805 0 0 1 0 0 intronic intronic intronic ZC3H7A ZC3H7A ENSG00000122299 Na Na Na Na Na Na Het;+T 177;9|7 Het;+T 154;5|6 Hom;+T 222;0|7 N N - 16 11862376 11862376 G GA indel intronic ZC3H7A Zc3h7a ENSG00000122299 zinc finger CCCH-type containing 7A chr16:11844442-11891123 QT interval; Alcohol Drinking; Triglycerides GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H7A https://www.uniprot.org/uniprot/Q8IWR0 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H7A&submit=Quick%0D%5399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H7A rs34038330 0.547324 0 0.4179 1 0 0 intronic intronic intronic ZC3H7A ZC3H7A ENSG00000122299 Na Na Na Na Na Na Het;+A 43;5|5 Het;+A 39;11|5 Hom;+A 182;1|10 N N - 16 11870494 11870494 T A snp intronic ZC3H7A Zc3h7a ENSG00000122299 zinc finger CCCH-type containing 7A chr16:11844442-11891123 QT interval; Alcohol Drinking; Triglycerides GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H7A https://www.uniprot.org/uniprot/Q8IWR0 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H7A&submit=Quick%0D%5399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H7A rs8054729 0.779952 0 0 1 0 0 intronic intronic intronic ZC3H7A ZC3H7A ENSG00000122299 Na Na Na Na Na Na Het;T>A 601;13|20 Het;T>A 357;10|12 Hom;T>A 978;0|27 N N - 16 11891120 11891120 G A snp UTR5 -14910C>T ZC3H7A Zc3h7a ENSG00000122299 zinc finger CCCH-type containing 7A chr16:11844442-11891123 QT interval; Alcohol Drinking; Triglycerides GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H7A https://www.uniprot.org/uniprot/Q8IWR0 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H7A&submit=Quick%0D%5399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H7A rs148383532 0.271166 0 0 1 0 0 upstream upstream UTR5 ZC3H7A ZC3H7A ENSG00000122299(ENST00000355758:c.-14910C>T) Na Na Na Na Na Na Het;G>A 48;2|3 Ref Hom;G>A 96;0|5 N N - 16 1244877 1244877 G A snp intronic CACNA1H Cacna1h ENSG00000196557 calcium voltage-gated channel subunit alpha1 H chr16:1203241-1271771 This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] Hypertension; epilepsy; atherosclerosis; Alcoholism; Epilepsy, Generalized; childhood absence epilepsy.; autism Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. NCAM1 interactions GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;NAS|GO:0007520;myoblast fusion;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0032342;aldosterone biosynthetic process;IMP|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034220;ion transmembrane transport;IEA|GO:0034651;cortisol biosynthetic process;IMP|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035865;cellular response to potassium ion;IEP|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:2000344;positive regulation of acrosome reaction;IMP GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CACNA1H https://hpo.jax.org/app/browse/search?q=CACNA1H&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607904 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1H&submit=Quick%0D%16401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1H rs9936834 0.84365 0 0 1 0 0 intronic intronic intronic CACNA1H CACNA1H ENSG00000196557 Na Na Na Na Na Na Het;G>A 1023;26|29 Het;G>A 477;10|13 Hom;G>A 538;0|16 N N - 16 1249668 1249668 C G snp intronic CACNA1H Cacna1h ENSG00000196557 calcium voltage-gated channel subunit alpha1 H chr16:1203241-1271771 This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] Hypertension; epilepsy; atherosclerosis; Alcoholism; Epilepsy, Generalized; childhood absence epilepsy.; autism Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. NCAM1 interactions GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;NAS|GO:0007520;myoblast fusion;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0032342;aldosterone biosynthetic process;IMP|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034220;ion transmembrane transport;IEA|GO:0034651;cortisol biosynthetic process;IMP|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035865;cellular response to potassium ion;IEP|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA|GO:2000344;positive regulation of acrosome reaction;IMP GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CACNA1H https://hpo.jax.org/app/browse/search?q=CACNA1H&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607904 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1H&submit=Quick%0D%16401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1H rs34997164 0.128594 0 0 1 0 0 intronic intronic intronic CACNA1H CACNA1H ENSG00000196557 Na Na Na Na Na Na Het;C>G 32;1|3 Ref Hom;C>G 112;0|5 N N - 16 1374818 1374818 A G snp UTR3 *24A>G UBE2I Ube2i ENSG00000103275 ubiquitin conjugating enzyme E2 I chr16:1355548-1377019 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Breast Neoplasms|Lymphatic Metastasis; plasma HDL cholesterol (HDL-C) levels; breast cancer; lung cancer ; Alzheimer's disease Embryos homozygous for a targeted null mutation die prior to E7.5. In culture, mutant blastocysts are viable up to 2 days but show subsequent apoptosis of the inner cell mass. Mutant cells exhibit major chromosome condensation and segregation defects as well as gross defects in nuclear organization. Negative regulation of activity of TFAP2 (AP-2) family transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006464;cellular protein modification process;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0016032;viral process;IEA|GO:0016925;protein sumoylation;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051301;cell division;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1903755;positive regulation of SUMO transferase activity;IDA GO:0000795;synaptonemal complex;TAS|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IEA|GO:0016605;PML body;IDA|GO:1990234;transferase complex;IDA|GO:1990356;sumoylated E2 ligase complex;IC GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008134;transcription factor binding;IPI|GO:0016740;transferase activity;IEA|GO:0019789;SUMO transferase activity;EXP|GO:0019899;enzyme binding;IPI|GO:0043398;HLH domain binding;IEA|GO:0044388;small protein activating enzyme binding;IPI|GO:0061656;SUMO conjugating enzyme activity;IDA|GO:0071535;RING-like zinc finger domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UBE2I https://www.uniprot.org/uniprot/P63279 https://www.ncbi.nlm.nih.gov/omim/?term=601661 http://www.informatics.jax.org/searchtool/Search.do?query=UBE2I&submit=Quick%0D%3002ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2I rs8063 0.663339 0.6246 0.7085 1 0 0 UTR3 UTR3 UTR3 UBE2I(NM_194260:c.*24A>G,NM_194261:c.*24A>G,NM_003345:c.*24A>G,NM_194259:c.*24A>G) UBE2I(uc002clc.2:c.*24A>G,uc002cld.2:c.*24A>G,uc002clf.2:c.*24A>G,uc002clg.2:c.*24A>G) ENSG00000103275(ENST00000355803:c.*24A>G,ENST00000325437:c.*24A>G,ENST00000397514:c.*24A>G,ENST00000397515:c.*24A>G,ENST00000403747:c.*24A>G,ENST00000566587:c.*24A>G,ENST00000406620:c.*24A>G) Na Na Na Na Na Na Het;A>G 1819;56|76 Het;A>G 945;43|43 Hom;A>G 3136;4|119 N N - 16 13828469 13828469 A G snp ncRNA_intronic U95743.1 rs2866845 0.692292 0 0 1 0 0 intergenic intergenic ncRNA_intronic SHISA9(dist=494196),ERCC4(dist=185545) JA611291(dist=6443),ERCC4(dist=185545) ENSG00000262267 Na Na Na Na Na Na Het;A>G 235;4|7 Ref Hom;A>G 138;0|4 N N - 16 13828966 13828966 C T snp ncRNA_intronic U95743.1 rs2866846 0.70647 0 0 1 0 0 intergenic intergenic ncRNA_intronic SHISA9(dist=494693),ERCC4(dist=185048) JA611291(dist=6940),ERCC4(dist=185048) ENSG00000262267 Na Na Na Na Na Na Het;C>T 86;6|5 Ref Hom;C>T 109;0|4 N N - 16 14512424 14512425 GA G indel ncRNA_intronic AC040173.1 rs571014499 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR365A(dist=109196),PARN(dist=17132) mir-108-1(dist=109194),PARN(dist=17132) ENSG00000263257 Na Na Na Na Na Na Het;-A 109;15|11 Het;-A 336;3|20 Hom;-A 498;3|26 N N - 16 1484338 1484338 A G snp downstream CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs7192100 0.796725 0 0 1 0 0 downstream downstream downstream CCDC154 CCDC154 ENSG00000197599 Na Na Na Na Na Na Het;A>G 193;9|8 Het;A>G 212;15|10 Hom;A>G 739;0|26 N N - 16 1484392 1484392 G C snp stopgain C318G Y106X aromatic,polar,hydrophobic CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs12598718 0.573283 0.5344 0.5885 1 0 0 UTR3 exonic UTR3 CCDC154(NM_001143980:c.*17C>G) CCDC154 ENSG00000197599(ENST00000483702:c.*400C>G,ENST00000409671:c.*17C>G,ENST00000389176:c.*17C>G) Na stopgain Na Na CCDC154:uc010brp.3:exon3:c.C318G:p.Y106X, Na Het;G>C 570;28|25 Het;G>C 567;31|26 Hom;G>C 1891;0|66 N N - 16 1486598 1486598 G A snp intronic CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs76876166 0.100639 0 0 1 0 0 intronic intronic intronic CCDC154 CCDC154 ENSG00000197599 Na Na Na Na Na Na Het;G>A 1108;43|43 Het;G>A 866;28|34 Hom;G>A 1770;0|62 N N - 16 1489261 1489261 C T snp intronic CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs2050152 0.472843 0 0 1 0 0 intronic intronic intronic CCDC154 CCDC154 ENSG00000197599 Na Na Na Na Na Na Het;C>T 121;9|5 Het;C>T 140;6|6 Hom;C>T 241;0|7 N N - 16 1493030 1493030 C G snp intronic CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs1883480 0.510982 0 0 1 0 0 intronic intronic intronic CCDC154 CCDC154 ENSG00000197599 Na Na Na Na Na Na Het;C>G 147;8|7 Het;C>G 131;14|7 Hom;C>G 529;0|20 N N - 16 1493130 1493130 C T snp intronic CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs760995 0.484026 0 0 1 0 0 intronic intronic intronic CCDC154 CCDC154 ENSG00000197599 Na Na Na Na Na Na Het;C>T 111;3|5 Het;C>T 49;7|3 Hom;C>T 209;0|7 N N - 16 1493759 1493759 C T snp intronic CCDC154 Ccdc154 ENSG00000197599 coiled-coil domain containing 154 chr16:1484384-1494557 Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC154 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC154&submit=Quick%0D%16670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC154 rs12596752 0.458267 0.3881 0.4711 1 0 0 intronic intronic intronic CCDC154 CCDC154 ENSG00000197599 Na Na Na Na Na Na Het;C>T 1354;60|63 Het;C>T 975;41|45 Hom;C>T 2642;0|97 N N - 16 1495006 1495006 C G snp UTR3 *1626G>C CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs8767 0.661342 0 0 1 0 0 UTR3 UTR3 UTR3 CLCN7(NM_001114331:c.*1626G>C,NM_001287:c.*1626G>C) CLCN7(uc002clu.3:c.*1626G>C,uc002clv.3:c.*1626G>C,uc002clw.3:c.*1626G>C) ENSG00000103249(ENST00000448525:c.*1626G>C,ENST00000382745:c.*1626G>C) Na Na Na Na Na Na Het;C>G 752;62|37 Het;C>G 780;52|36 Hom;C>G 2473;2|96 N N - 16 1495243 1495243 T G snp UTR3 *1389A>C CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs710900 0.91893 0 0 1 0 0 UTR3 UTR3 UTR3 CLCN7(NM_001114331:c.*1389A>C,NM_001287:c.*1389A>C) CLCN7(uc002clu.3:c.*1389A>C,uc002clv.3:c.*1389A>C,uc002clw.3:c.*1389A>C) ENSG00000103249(ENST00000448525:c.*1389A>C,ENST00000382745:c.*1389A>C) Na Na Na Na Na Na Het;T>G 1341;37|46 Het;T>G 858;32|30 Hom;T>G 1774;0|59 N N - 16 1495300 1495300 G A snp UTR3 *1332C>T CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs941439 0.469649 0 0 1 0 0 UTR3 UTR3 UTR3 CLCN7(NM_001114331:c.*1332C>T,NM_001287:c.*1332C>T) CLCN7(uc002clu.3:c.*1332C>T,uc002clv.3:c.*1332C>T,uc002clw.3:c.*1332C>T) ENSG00000103249(ENST00000448525:c.*1332C>T,ENST00000382745:c.*1332C>T) Na Na Na Na Na Na Het;G>A 635;43|34 Het;G>A 598;29|23 Hom;G>A 1094;0|48 N N - 16 1497137 1497137 C T snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs12599176 0.484824 0.3933 0.5165 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;C>T 639;15|28 Het;C>T 595;10|28 Hom;C>T 607;0|23 N N - 16 1498520 1498520 A G snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs12597739 0.596845 0.5310 0.5407 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;A>G 1991;58|83 Het;A>G 1981;41|78 Hom;A>G 2966;4|107 N N - 16 1499377 1499377 C T snp UTR5 -270G>A CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs742408 0.454673 0.3405 0.4489 1 0 0 intronic UTR5 intronic CLCN7 CLCN7(uc002clu.3:c.-270G>A) ENSG00000103249 Na Na Na Na Na Na Het;C>T 301;40|18 Het;C>T 767;29|35 Hom;C>T 1656;0|61 N N - 16 1500708 1500708 G GC indel intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs397764046 0.355032 0.3737 0.3917 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;+C 1486;28|50 Het;+C 982;40|35 Hom;+C 1956;0|57 N N - 16 1503879 1503879 T A snp synonymous SNV A1170T A390A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs2235579 0.555911 0.5093 0.5335 1 0 0 exonic exonic exonic CLCN7 CLCN7 ENSG00000103249 synonymous SNV synonymous SNV unknown CLCN7:NM_001287:exon14:c.A1170T:p.A390A,CLCN7:NM_001114331:exon13:c.A1098T:p.A366A, CLCN7:uc002clw.3:exon13:c.A1098T:p.A366A,CLCN7:uc002clv.3:exon14:c.A1170T:p.A390A, UNKNOWN Het;T>A 2094;99|99 Het;T>A 1499;83|72 Hom;T>A 3293;0|119 N N - 16 1504017 1504017 A G snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs4786337 0.687899 0 0 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;A>G 414;17|17 Het;A>G 308;4|11 Hom;A>G 611;0|19 N N - 16 1504633 1504633 C T snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs4265806 0.724441 0 0 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;C>T 326;1|11 Het;C>T 107;4|4 Hom;C>T 131;0|4 N N - 16 1504934 1504934 T C snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs9934018 0.534145 0 0 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;T>C 85;2|3 Ref Hom;T>C 143;0|4 N N - 16 1505429 1505429 C G snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs2072694 0.635184 0 0 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;C>G 201;3|8 Ref Hom;C>G 265;0|8 N N - 16 1505599 1505599 C T snp intronic CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs7190701 0.571685 0 0 1 0 0 intronic intronic intronic CLCN7 CLCN7 ENSG00000103249 Na Na Na Na Na Na Het;C>T 396;10|12 Het;C>T 420;2|12 Hom;C>T 270;0|8 N N - 16 1525179 1525179 C T snp UTR5 -204G>A CLCN7 Clcn7 ENSG00000103249 chloride voltage-gated channel 7 chr16:1494935-1525581 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] Bone Mineral Density; bone density; osteoporosis; Osteoporosis; Body Weight Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0009268;response to pH;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IBA|GO:0005254;chloride channel activity;TAS|GO:0005524;ATP binding;IEA|GO:0015297;antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN7 https://www.uniprot.org/uniprot/P51798 https://hpo.jax.org/app/browse/search?q=CLCN7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602727 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN7&submit=Quick%0D%2993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN7 rs960467 0.288938 0 0 1 0 0 upstream upstream UTR5 CLCN7 CLCN7 ENSG00000103249(ENST00000382745:c.-204G>A) Na Na Na Na Na Na Het;C>T 77;15|5 Ref Hom;C>T 512;0|18 N N - 16 19074994 19074994 T TTG indel UTR3 *1829T>TTG TMC7 Tmc7 ENSG00000170537 transmembrane channel like 7 chr16:18995256-19075264 GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMC7 https://www.ncbi.nlm.nih.gov/omim/?term=617198 http://www.informatics.jax.org/searchtool/Search.do?query=TMC7&submit=Quick%0D%12731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC7 rs367660641 0.445088 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic LOC102723385 TMC7(uc002dfq.3:c.*1829T>TTG,uc010vap.2:c.*1829T>TTG) ENSG00000261465 Na Na Na Na Na Na Het;+TG 1812;9|64 Het;+TG 1239;7|43 Hom;+TG 1682;7|58 N N - 16 19742037 19742037 G GTCTA indel intronic IQCK Iqck ENSG00000174628 IQ motif containing K chr16:19727778-19868907 This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] Type 2 Diabetes| edema | rosiglitazone http://www.genecards.org/index.php?path=/Search/keyword/IQCK http://www.informatics.jax.org/searchtool/Search.do?query=IQCK&submit=Quick%0D%13555ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCK rs60935548 0 0 0 1 0 0 intronic intronic intronic IQCK IQCK ENSG00000174628 Na Na Na Na Na Na Het;+TCTA 31;1|2 Ref Hom;+TCTA 143;0|4 N N - 16 20647921 20647921 C T snp intronic ACSM1 Acsm1 ENSG00000166743 acyl-CoA synthetase medium chain family member 1 chr16:20634559-20710212 Type 2 Diabetes| edema | rosiglitazone; Schizophrenia; schizophrenia; Acquired Immunodeficiency Syndrome|Disease Progression; cholesterol, HDL; hypertension Conjugation of phenylacetate with glutamine GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006637;acyl-CoA metabolic process;IBA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0015980;energy derivation by oxidation of organic compounds;NAS|GO:0018874;benzoate metabolic process;NAS|GO:0019395;fatty acid oxidation;NAS|GO:0019605;butyrate metabolic process;NAS|GO:0042632;cholesterol homeostasis;NAS GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;IDA|GO:0004321;fatty-acyl-CoA synthase activity;IBA|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0015645;fatty acid ligase activity;IEA|GO:0016405;CoA-ligase activity;TAS|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047760;butyrate-CoA ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACSM1 https://www.ncbi.nlm.nih.gov/omim/?term=614357 http://www.informatics.jax.org/searchtool/Search.do?query=ACSM1&submit=Quick%0D%11855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSM1 rs62033279 0.275559 0 0 1 0 0 intronic intronic intronic ACSM1 ACSM1 ENSG00000005187,ENSG00000166743 Na Na Na Na Na Na Het;C>T 134;4|6 Ref Hom;C>T 95;0|4 N N - 16 21513763 21513763 C CAG indel upstream SMG1P3 rs74851369 0.245407 0 0 1 0 0 upstream intergenic ncRNA_intronic SMG1P3 NONE(dist=NONE),SLC7A5P2(dist=15467) ENSG00000180747 Na Na Na Na Na Na Het;+AG 234;4|7 Het;+AG 32;2|2 Hom;+AG 143;0|4 N N - 16 2216073 2216073 G C snp intronic TRAF7 Traf7 ENSG00000131653 TNF receptor associated factor 7 chr16:2205699-2228130 Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004] Alcoholism Antigen processing: Ubiquitination & Proteasome degradation GO:0000185;activation of MAPKKK activity;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IDA|GO:0016567;protein ubiquitination;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:2001235;positive regulation of apoptotic signaling pathway;IMP GO:0000151;ubiquitin ligase complex;IDA|GO:0005886;plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRAF7 https://www.uniprot.org/uniprot/Q6Q0C0 https://hpo.jax.org/app/browse/search?q=TRAF7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606692 http://www.informatics.jax.org/searchtool/Search.do?query=TRAF7&submit=Quick%0D%6567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAF7 rs8062006 0.509585 0 0 1 0 0 intronic intronic intronic TRAF7 TRAF7 ENSG00000131653 Na Na Na Na Na Na Het;G>C 202;12|7 Het;G>C 112;5|4 Hom;G>C 313;0|9 N N - 16 2348208 2348208 G C snp intronic ABCA3 Abca3 ENSG00000167972 ATP binding cassette subfamily A member 3 chr16:2325882-2390747 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008] Respiratory Distress Syndrome, Newborn; Idiopathic Interstitial Pneumonias|Pulmonary Fibrosis; fatal surfactant deficiency; drug-related genes ; Bronchopulmonary Dysplasia|Respiratory Distress Syndrome, Newborn; lung disease Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion. Surfactant metabolism GO:0006810;transport;TAS|GO:0006869;lipid transport;IBA|GO:0042493;response to drug;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051384;response to glucocorticoid;IEA|GO:0055085;transmembrane transport;TAS GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097208;alveolar lamellar body;IDA|GO:0097232;lamellar body membrane;TAS|GO:0097233;alveolar lamellar body membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005319;lipid transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABCA3 https://hpo.jax.org/app/browse/search?q=ABCA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601615 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA3&submit=Quick%0D%12157ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA3 rs323044 0.624002 0 0 1 0 0 intronic intronic intronic ABCA3 ABCA3 ENSG00000167972 Na Na Na Na Na Na Het;G>C 177;6|6 Het;G>C 32;4|2 Hom;G>C 270;0|9 N N - 16 23654509 23654509 T G snp intronic DCTN5 Dctn5 ENSG00000166847 dynactin subunit 5 chr16:23652713-23681195 This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus|Hypertension|Rheumatoid Arthritis; breast cancer; Bipolar disorder Mice homozygous for an ENU-induced mutation exhibit double outlet right ventricle (DORV), overriding aorta, and ventricular septal defect (VSD). Micrognathia, microcephaly/anencephaly and holoprosencephaly are also observed. COPI-independent Golgi-to-ER retrograde traffic GO:0003281;ventricular septum development;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0035904;aorta development;IEA|GO:0060976;coronary vasculature development;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031965;nuclear membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCTN5 https://www.ncbi.nlm.nih.gov/omim/?term=612962 http://www.informatics.jax.org/searchtool/Search.do?query=DCTN5&submit=Quick%0D%11882ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCTN5 rs703769 0.231829 0 0 1 0 0 intronic intronic intronic DCTN5 DCTN5 ENSG00000166847 Na Na Na Na Na Na Het;T>G 218;1|7 Ref Hom;T>G 137;0|4 N N - 16 2814162 2814162 G A snp synonymous SNV G3633A R1211R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SRRM2 Srrm2 ENSG00000167978 serine/arginine repetitive matrix 2 chr16:2802330-2822539 mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003723;RNA binding;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0070742;C2H2 zinc finger domain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRRM2 https://www.ncbi.nlm.nih.gov/omim/?term=606032 http://www.informatics.jax.org/searchtool/Search.do?query=SRRM2&submit=Quick%0D%12159ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRM2 rs3094775 0.654553 0.7438 0.7370 1 0 0 exonic exonic exonic SRRM2 SRRM2 ENSG00000167978 synonymous SNV synonymous SNV unknown SRRM2:NM_016333:exon11:c.G3633A:p.R1211R, SRRM2:uc002crj.1:exon10:c.G3345A:p.R1115R,SRRM2:uc010bsu.1:exon10:c.G3345A:p.R1115R,SRRM2:uc002crl.1:exon11:c.G3633A:p.R1211R,SRRM2:uc002crk.3:exon11:c.G3633A:p.R1211R, UNKNOWN Het;G>A 1207;91|57 Het;G>A 1256;53|57 Hom;G>A 3276;1|109 N N - 16 2818161 2818161 T C snp synonymous SNV T7632C S2544S polar,hydrophilic,neutral polar,hydrophilic,neutral SRRM2 Srrm2 ENSG00000167978 serine/arginine repetitive matrix 2 chr16:2802330-2822539 mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003723;RNA binding;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0070742;C2H2 zinc finger domain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRRM2 https://www.ncbi.nlm.nih.gov/omim/?term=606032 http://www.informatics.jax.org/searchtool/Search.do?query=SRRM2&submit=Quick%0D%12159ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRM2 rs2301802 0.671725 0.7781 0.7666 1 0 0 exonic exonic exonic SRRM2 SRRM2 ENSG00000167978 synonymous SNV synonymous SNV unknown SRRM2:NM_016333:exon11:c.T7632C:p.S2544S, SRRM2:uc002crj.1:exon10:c.T7344C:p.S2448S,SRRM2:uc010bsu.1:exon10:c.T7344C:p.S2448S,SRRM2:uc002crl.1:exon11:c.T7632C:p.S2544S,SRRM2:uc002crk.3:exon11:c.T7632C:p.S2544S, UNKNOWN Het;T>C 1097;32|43 Het;T>C 452;26|19 Hom;T>C 1360;0|47 N N - 16 2821573 2821573 C T snp nonsynonymous SNV G386A S129N polar,hydrophilic,neutral polar,hydrophilic,neutral TCEB2 rs8017 0.413738 0.4495 0.4820 0.09 1 11 exonic exonic exonic TCEB2 TCEB2 ENSG00000103363 nonsynonymous SNV nonsynonymous SNV unknown TCEB2:NM_207013:exon5:c.G386A:p.S129N, TCEB2:uc002crm.3:exon5:c.G386A:p.S129N, UNKNOWN Het;C>T 1425;54|64 Het;C>T 640;47|33 Hom;C>T 2391;0|91 N N - 16 2825594 2825594 A G snp unknown ELOB rs3094774 0.708466 0.8240 0.7928 1 0 0 intronic intronic exonic TCEB2 TCEB2 ENSG00000103363 Na Na unknown Na Na UNKNOWN Het;A>G 178;2|9 Het;A>G 41;6|4 Hom;A>G 202;0|8 N N - 16 2834826 2834826 A G snp UTR3 *241T>C PRSS33 Prss33 ENSG00000103355 protease, serine 33 chr16:2833954-2837949 GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRSS33 https://www.uniprot.org/uniprot/Q8NF86 https://www.ncbi.nlm.nih.gov/omim/?term=613797 http://www.informatics.jax.org/searchtool/Search.do?query=PRSS33&submit=Quick%0D%3013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS33 rs12931183 0.599042 0.7224 0.6627 1 0 0 intronic UTR3 UTR3 PRSS33 PRSS33(uc002crp.1:c.*241T>C) ENSG00000103355(ENST00000576886:c.*241T>C) Na Na Na Na Na Na Het;A>G 1925;74|77 Het;A>G 1128;64|52 Hom;A>G 3766;1|134 N N - 16 2835189 2835189 G A snp intronic PRSS33 Prss33 ENSG00000103355 protease, serine 33 chr16:2833954-2837949 GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRSS33 https://www.uniprot.org/uniprot/Q8NF86 https://www.ncbi.nlm.nih.gov/omim/?term=613797 http://www.informatics.jax.org/searchtool/Search.do?query=PRSS33&submit=Quick%0D%3013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS33 rs12599918 0.622804 0.7873 0.6876 1 0 0 intronic intronic intronic PRSS33 PRSS33 ENSG00000103355 Na Na Na Na Na Na Het;G>A 832;50|37 Het;G>A 450;51|25 Hom;G>A 3222;0|120 N N - 16 2836027 2836027 T G snp intronic PRSS33 Prss33 ENSG00000103355 protease, serine 33 chr16:2833954-2837949 GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRSS33 https://www.uniprot.org/uniprot/Q8NF86 https://www.ncbi.nlm.nih.gov/omim/?term=613797 http://www.informatics.jax.org/searchtool/Search.do?query=PRSS33&submit=Quick%0D%3013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS33 rs7195287 0.616214 0.6984 0 1 0 0 intronic intronic intronic PRSS33 PRSS33 ENSG00000103355 Na Na Na Na Na Na Het;T>G 1065;31|40 Het;T>G 871;26|33 Hom;T>G 1549;0|56 N N - 16 29645078 29645078 C A snp ncRNA_intronic CA5AP1 rs12597368 0.738618 0 0 1 0 0 intergenic intergenic ncRNA_intronic SLC7A5P1(dist=20040),SPN(dist=29193) NONE(dist=NONE),NONE(dist=NONE) ENSG00000260133 Na Na Na Na Na Na Het;C>A 71;3|3 Ref Hom;C>A 166;0|5 N N - 16 2979640 2979640 T C snp UTR5 -47T>C FLYWCH1 Flywch1 ENSG00000059122 FLYWCH-type zinc finger 1 chr16:2961938-3001209 GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLYWCH1 https://www.uniprot.org/uniprot/Q4VC44 http://www.informatics.jax.org/searchtool/Search.do?query=FLYWCH1&submit=Quick%0D%1043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLYWCH1 rs11644380 0.280751 0.3777 0.3657 1 0 0 UTR5 UTR5 UTR5 FLYWCH1(NM_032296:c.-47T>C,NM_020912:c.-47T>C) FLYWCH1(uc002csb.3:c.-47T>C,uc002csc.3:c.-47T>C,uc002csd.3:c.-47T>C) ENSG00000059122(ENST00000253928:c.-47T>C,ENST00000399667:c.-47T>C,ENST00000416288:c.-47T>C,ENST00000570425:c.-47T>C,ENST00000573525:c.-47T>C) Na Na Na Na Na Na Het;T>C 127;9|5 Het;T>C 151;5|6 Hom;T>C 375;0|14 N N - 16 2988469 2988469 C G snp intronic FLYWCH1 Flywch1 ENSG00000059122 FLYWCH-type zinc finger 1 chr16:2961938-3001209 GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLYWCH1 https://www.uniprot.org/uniprot/Q4VC44 http://www.informatics.jax.org/searchtool/Search.do?query=FLYWCH1&submit=Quick%0D%1043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLYWCH1 rs12929501 0.222843 0.2620 0.2780 1 0 0 intronic intronic intronic FLYWCH1 FLYWCH1 ENSG00000059122 Na Na Na Na Na Na Het;C>G 1108;30|48 Het;C>G 1182;43|53 Hom;C>G 1805;0|66 N N - 16 2988553 2988553 C CTG indel intronic FLYWCH1 Flywch1 ENSG00000059122 FLYWCH-type zinc finger 1 chr16:2961938-3001209 GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLYWCH1 https://www.uniprot.org/uniprot/Q4VC44 http://www.informatics.jax.org/searchtool/Search.do?query=FLYWCH1&submit=Quick%0D%1043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLYWCH1 rs71158126 0.228634 0 0 1 0 0 intronic intronic intronic FLYWCH1 FLYWCH1 ENSG00000059122 Na Na Na Na Na Na Het;+TG 507;10|14 Het;+TG 473;12|13 Hom;+TG 977;0|23 N N - 16 2988619 2988619 T G snp intronic FLYWCH1 Flywch1 ENSG00000059122 FLYWCH-type zinc finger 1 chr16:2961938-3001209 GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLYWCH1 https://www.uniprot.org/uniprot/Q4VC44 http://www.informatics.jax.org/searchtool/Search.do?query=FLYWCH1&submit=Quick%0D%1043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLYWCH1 rs10220923 0 0 0 1 0 0 intronic intronic intronic FLYWCH1 FLYWCH1 ENSG00000059122 Na Na Na Na Na Na Het;T>G 64;3|3 Ref Hom;T>G 134;0|4 N N - 16 29982566 29982566 C T snp intronic TMEM219 Tmem219 ENSG00000149932 transmembrane protein 219 chr16:29952206-29984373 Mice homozygous for a knock-out allele exhibit attenuated IL13 responsiveness, increased susceptibility to exposure to 100% oxygen, and reduced lung metastasis of B16-F10 melanoma cells. TP53 Regulates Transcription of Death Receptors and Ligands GO:0006915;apoptotic process;IEA|GO:0042981;regulation of apoptotic process;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM219 https://www.uniprot.org/uniprot/Q86XT9 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM219&submit=Quick%0D%9293ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM219 rs12934406 0.405152 0 0 1 0 0 intronic intronic intronic TMEM219 TMEM219 ENSG00000149932 Na Na Na Na Na Na Het;C>T 100;4|4 Het;C>T 78;1|3 Hom;C>T 163;0|5 N N - 16 3017272 3017272 G T snp intronic KREMEN2 Kremen2 ENSG00000131650 kringle containing transmembrane protein 2 chr16:3013945-3018384 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a null allele exhibit no abnormal phenotype. Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling GO:0007154;cell communication;IBA|GO:0016055;Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0060173;limb development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/KREMEN2 https://www.uniprot.org/uniprot/Q8NCW0 https://www.ncbi.nlm.nih.gov/omim/?term=609899 http://www.informatics.jax.org/searchtool/Search.do?query=KREMEN2&submit=Quick%0D%6565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KREMEN2 rs2285827 0.253794 0 0.5312 1 0 0 intronic intronic intronic KREMEN2 KREMEN2 ENSG00000131650 Na Na Na Na Na Na Het;G>T 195;5|7 Het;G>T 282;6|11 Hom;G>T 608;0|24 N N - 16 3021116 3021116 T C snp UTR5 -77T>C PAQR4 Paqr4 ENSG00000162073 progestin and adipoQ receptor family member 4 chr16:3019246-3023490 Waist-Hip Ratio GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PAQR4 https://www.ncbi.nlm.nih.gov/omim/?term=614578 http://www.informatics.jax.org/searchtool/Search.do?query=PAQR4&submit=Quick%0D%10651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAQR4 rs4786365 0.667931 0.7401 0.6896 1 0 0 intronic UTR5 UTR5 PAQR4 PAQR4(uc010uwm.2:c.-83T>C) ENSG00000162073(ENST00000574988:c.-77T>C) Na Na Na Na Na Na Het;T>C 490;21|18 Het;T>C 194;5|8 Hom;T>C 772;0|29 N N - 16 3024188 3024188 T C snp intronic PKMYT1 Pkmyt1 ENSG00000127564 protein kinase, membrane associated tyrosine/threonine 1 chr16:3018025-3030540 This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Waist-Hip Ratio G2/M DNA replication checkpoint GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007088;regulation of mitotic nuclear division;TAS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0016310;phosphorylation;IEA|GO:0051726;regulation of cell cycle;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKMYT1 https://www.uniprot.org/uniprot/Q99640 https://www.ncbi.nlm.nih.gov/omim/?term=602474 http://www.informatics.jax.org/searchtool/Search.do?query=PKMYT1&submit=Quick%0D%6054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKMYT1 rs2074528 0.678315 0.7573 0.7072 1 0 0 intronic intronic intronic PKMYT1 PKMYT1 ENSG00000127564 Na Na Na Na Na Na Het;T>C 903;46|38 Het;T>C 1046;32|44 Hom;T>C 1777;0|59 N N - 16 3065596 3065596 T C snp nonsynonymous SNV A427G I143V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CLDN6 Cldn6 ENSG00000184697 claudin 6 chr16:3064713-3070072 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010] benzene haematotoxicity Mice homozygous for a null allele do not exhibit overt abnormalities. Tight junction interactions GO:0016032;viral process;IEA|GO:0016338;calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;ISS|GO:0045216;cell-cell junction organization;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0030054;cell junction;IEA GO:0001618;virus receptor activity;IMP|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/CLDN6 https://www.ncbi.nlm.nih.gov/omim/?term=615798 http://www.informatics.jax.org/searchtool/Search.do?query=CLDN6&submit=Quick%0D%15257ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLDN6 rs2257295 0.298922 0.3857 0.3614 0.23 3 13 exonic exonic exonic CLDN6 CLDN6 ENSG00000184697 nonsynonymous SNV nonsynonymous SNV unknown CLDN6:NM_021195:exon2:c.A427G:p.I143V, CLDN6:uc021tbb.1:exon1:c.A427G:p.I143V,CLDN6:uc002csu.4:exon2:c.A427G:p.I143V, UNKNOWN Het;T>C 1947;120|87 Het;T>C 1544;92|68 Hom;T>C 4156;0|153 N N - 16 3071420 3071420 T A snp intronic TNFRSF12A Tnfrsf12a ENSG00000006327 TNF receptor superfamily member 12A chr16:3068446-3072384 benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Multiple Myeloma; ovarian cancer Mice homozygous for a knock-out allele exhibit significantly reduced liver progenitor ("oval") cell proliferation in response to chemically-induced liver injury. TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway GO:0001525;angiogenesis;IEA|GO:0006915;apoptotic process;IEA|GO:0006931;substrate-dependent cell migration, cell attachment to substrate;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045765;regulation of angiogenesis;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0061041;regulation of wound healing;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP GO:0001726;ruffle;IEA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF12A https://www.uniprot.org/uniprot/Q9NP84 https://www.ncbi.nlm.nih.gov/omim/?term=605914 http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF12A&submit=Quick%0D%396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF12A rs2232798 0.495008 0 0 1 0 0 intronic intronic intronic TNFRSF12A TNFRSF12A ENSG00000006327 Na Na Na Na Na Na Het;T>A 260;27|13 Het;T>A 262;10|12 Hom;T>A 594;0|20 N N - 16 3075633 3075633 G C snp intronic THOC6 Thoc6 ENSG00000131652 THO complex 6 chr16:3074028-3077756 benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone mRNA 3'-end processing GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IMP|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0051028;mRNA transport;IEA GO:0000346;transcription export complex;IDA|GO:0000347;THO complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THOC6 https://www.uniprot.org/uniprot/Q86W42 https://hpo.jax.org/app/browse/search?q=THOC6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615403 http://www.informatics.jax.org/searchtool/Search.do?query=THOC6&submit=Quick%0D%6566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC6 rs2526260 0.243011 0 0 1 0 0 intronic intronic intronic THOC6 THOC6 ENSG00000131652 Na Na Na Na Na Na Het;G>C 458;9|15 Het;G>C 238;9|11 Hom;G>C 184;0|5 N N - 16 3075701 3075701 C T snp intronic THOC6 Thoc6 ENSG00000131652 THO complex 6 chr16:3074028-3077756 benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone mRNA 3'-end processing GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IMP|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0051028;mRNA transport;IEA GO:0000346;transcription export complex;IDA|GO:0000347;THO complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THOC6 https://www.uniprot.org/uniprot/Q86W42 https://hpo.jax.org/app/browse/search?q=THOC6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615403 http://www.informatics.jax.org/searchtool/Search.do?query=THOC6&submit=Quick%0D%6566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC6 rs2717664 0.242612 0.3188 0.2930 1 0 0 intronic intronic intronic THOC6 THOC6 ENSG00000131652 Na Na Na Na Na Na Het;C>T 822;24|34 Het;C>T 594;33|27 Hom;C>T 1510;0|55 N N - 16 3075999 3075999 C G snp intronic THOC6 Thoc6 ENSG00000131652 THO complex 6 chr16:3074028-3077756 benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone mRNA 3'-end processing GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IMP|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0051028;mRNA transport;IEA GO:0000346;transcription export complex;IDA|GO:0000347;THO complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THOC6 https://www.uniprot.org/uniprot/Q86W42 https://hpo.jax.org/app/browse/search?q=THOC6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615403 http://www.informatics.jax.org/searchtool/Search.do?query=THOC6&submit=Quick%0D%6566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC6 rs2245000 0.55611 0.6389 0.5845 1 0 0 intronic intronic intronic THOC6 THOC6 ENSG00000131652 Na Na Na Na Na Na Het;C>G 1665;77|61 Het;C>G 1136;50|47 Hom;C>G 3473;0|119 N N - 16 3077710 3077711 CT C indel UTR3 *52_*53delinsC THOC6 Thoc6 ENSG00000131652 THO complex 6 chr16:3074028-3077756 benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone mRNA 3'-end processing GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IMP|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0051028;mRNA transport;IEA GO:0000346;transcription export complex;IDA|GO:0000347;THO complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THOC6 https://www.uniprot.org/uniprot/Q86W42 https://hpo.jax.org/app/browse/search?q=THOC6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615403 http://www.informatics.jax.org/searchtool/Search.do?query=THOC6&submit=Quick%0D%6566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC6 rs544533057 0 0 0.2314 1 0 0 UTR3 UTR3 UTR3 THOC6(NM_024339:c.*52_*53delinsC,NM_001142350:c.*52_*53delinsC) THOC6(uc002ctb.2:c.*52_*53delinsC,uc002ctd.2:c.*52_*53delinsC,uc002cta.2:c.*52_*53delinsC) ENSG00000131652(ENST00000326266:c.*52_*53delinsC,ENST00000574549:c.*52_*53delinsC,ENST00000575576:c.*52_*53delinsC,ENST00000253952:c.*52_*53delinsC),ENSG00000162069(ENST00000573514:c.*397_*396delinsG) Na Na Na Na Na Na Het;-T 356;16|30 Ref Hom;-T 560;1|28 N N - 16 3077867 3077867 G C snp UTR3 *240C>G BICDL2 rs1052458 0.493211 0 0 1 0 0 downstream downstream UTR3 CCDC64B,THOC6 CCDC64B,THOC6 ENSG00000162069(ENST00000573514:c.*240C>G,ENST00000572449:c.*240C>G) Na Na Na Na Na Na Het;G>C 151;8|7 Het;G>C 53;2|4 Hom;G>C 113;0|5 N N - 16 3078544 3078544 T G snp intronic CCDC64B Ccdc64b rs2079244 0.524561 0 0 1 0 0 intronic intronic intronic CCDC64B CCDC64B ENSG00000162069 Na Na Na Na Na Na Het;T>G 381;13|13 Het;T>G 304;9|12 Hom;T>G 638;0|22 N N - 16 3078616 3078619 CATT C indel intronic CCDC64B Ccdc64b rs370247621 0.507388 0 0 1 0 0 intronic intronic intronic CCDC64B CCDC64B ENSG00000162069 Na Na Na Na Na Na Het;-ATT 476;25|14 Het;-ATT 404;14|12 Hom;-ATT 1338;0|31 N N - 16 3079685 3079685 T C snp nonsynonymous SNV A818G Q273R polar,hydrophilic,neutral polar,hydrophilic,charged(+) CCDC64B Ccdc64b rs2244494 0.245407 0.2362 0.3613 0.62 8 13 exonic exonic exonic CCDC64B CCDC64B ENSG00000162069 nonsynonymous SNV nonsynonymous SNV unknown CCDC64B:NM_001103175:exon5:c.A818G:p.Q273R, CCDC64B:uc002ctf.4:exon5:c.A818G:p.Q273R,CCDC64B:uc002cte.4:exon4:c.A197G:p.Q66R, UNKNOWN Het;T>C 77;17|6 Het;T>C 50;9|3 Hom;T>C 296;0|12 N N - 16 3082478 3082478 T C snp UTR5 -1888A>G BICDL2 rs2526279 0.509385 0 0 1 0 0 intronic UTR5 UTR5 CCDC64B CCDC64B(uc002cte.4:c.-1888A>G) ENSG00000162069(ENST00000573514:c.-1888A>G) Na Na Na Na Na Na Het;T>C 1355;48|59 Het;T>C 1346;48|59 Hom;T>C 3046;0|115 N N - 16 3085085 3085085 G C snp ncRNA_intronic LOC100128770 rs732261 0.541134 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100128770 LOC100128770 ENSG00000205890 Na Na Na Na Na Na Het;G>C 687;28|26 Het;G>C 628;50|33 Hom;G>C 1453;0|52 N N - 16 3085335 3085335 G C snp nonsynonymous SNV C163G Q55E polar,hydrophilic,neutral polar,hydrophilic,charged(-) CCDC64B Ccdc64b rs7204908 0.273562 0.3366 0.4595 0.31 4 13 exonic exonic exonic CCDC64B CCDC64B ENSG00000162069 nonsynonymous SNV nonsynonymous SNV unknown CCDC64B:NM_001103175:exon1:c.C163G:p.Q55E, CCDC64B:uc002ctf.4:exon1:c.C163G:p.Q55E, UNKNOWN Het;G>C 732;65|35 Het;G>C 840;36|40 Hom;G>C 2698;0|100 N N - 16 3085375 3085375 G A snp synonymous SNV C123T G41G aliphatic,neutral aliphatic,neutral CCDC64B Ccdc64b rs11077096 0.294329 0.3520 0.4156 1 0 0 exonic exonic exonic CCDC64B CCDC64B ENSG00000162069 synonymous SNV synonymous SNV unknown CCDC64B:NM_001103175:exon1:c.C123T:p.G41G, CCDC64B:uc002ctf.4:exon1:c.C123T:p.G41G, UNKNOWN Het;G>A 720;69|37 Het;G>A 823;40|39 Hom;G>A 2282;0|86 N N - 16 3086447 3086447 C G snp ncRNA_exonic LOC100128770 rs7206805 0.309904 0 0.3495 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100128770 LOC100128770 ENSG00000205890 Na Na Na Na Na Na Het;C>G 1443;72|65 Het;C>G 1301;51|56 Hom;C>G 2611;0|95 N N - 16 3088183 3088183 G A snp ncRNA_intronic LOC100128770 rs1859376 0.294129 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100128770 LOC100128770 ENSG00000205890 Na Na Na Na Na Na Het;G>A 187;4|7 Het;G>A 63;5|3 Hom;G>A 268;0|8 N N - 16 3097295 3097295 C T snp intronic MMP25 Mmp25 ENSG00000008516 matrix metallopeptidase 25 chr16:3096682-3110727 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; kidney aging; Hepatitis C, Chronic|Liver Cirrhosis Neutrophil degranulation GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0060022;hard palate development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP25 https://www.uniprot.org/uniprot/Q9NPA2 https://www.ncbi.nlm.nih.gov/omim/?term=608482 http://www.informatics.jax.org/searchtool/Search.do?query=MMP25&submit=Quick%0D%485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP25 rs879734 0.272364 0 0 1 0 0 intronic intronic intronic MMP25 MMP25 ENSG00000008516 Na Na Na Na Na Na Het;C>T 250;6|8 Het;C>T 96;6|4 Hom;C>T 300;0|10 N N - 16 3097596 3097596 T A snp intronic MMP25 Mmp25 ENSG00000008516 matrix metallopeptidase 25 chr16:3096682-3110727 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; kidney aging; Hepatitis C, Chronic|Liver Cirrhosis Neutrophil degranulation GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0060022;hard palate development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP25 https://www.uniprot.org/uniprot/Q9NPA2 https://www.ncbi.nlm.nih.gov/omim/?term=608482 http://www.informatics.jax.org/searchtool/Search.do?query=MMP25&submit=Quick%0D%485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP25 rs3743936 0.565296 0.6516 0.5893 1 0 0 intronic intronic intronic MMP25 MMP25 ENSG00000008516 Na Na Na Na Na Na Het;T>A 270;10|12 Het;T>A 242;12|10 Hom;T>A 330;0|10 N N - 16 3100095 3100095 C T snp synonymous SNV C318T R106R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MMP25 Mmp25 ENSG00000008516 matrix metallopeptidase 25 chr16:3096682-3110727 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; kidney aging; Hepatitis C, Chronic|Liver Cirrhosis Neutrophil degranulation GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0060022;hard palate development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP25 https://www.uniprot.org/uniprot/Q9NPA2 https://www.ncbi.nlm.nih.gov/omim/?term=608482 http://www.informatics.jax.org/searchtool/Search.do?query=MMP25&submit=Quick%0D%485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP25 rs10431961 0.252196 0.2928 0.3108 1 0 0 exonic exonic exonic MMP25 MMP25 ENSG00000008516 synonymous SNV synonymous SNV unknown MMP25:NM_022468:exon3:c.C318T:p.R106R, MMP25:uc002cth.3:exon3:c.C318T:p.R106R,MMP25:uc002cti.1:exon2:c.C126T:p.R42R, UNKNOWN Het;C>T 1893;119|93 Het;C>T 2787;87|125 Hom;C>T 6332;4|235 N N - 16 3102464 3102464 G A snp ncRNA_exonic MMP25-AS1 rs2717670 0 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_intronic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;G>A 1544;69|68 Het;G>A 1188;69|57 Hom;G>A 3143;0|118 N N - 16 3102657 3102657 C T snp ncRNA_exonic MMP25-AS1 rs2717671 0.245807 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_intronic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;C>T 1127;83|53 Het;C>T 824;90|45 Hom;C>T 3054;0|115 N N - 16 3105714 3105714 A T snp ncRNA_intronic BC045731 rs55795104 0.0884585 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;A>T 693;37|33 Het;A>T 470;25|21 Hom;A>T 1605;0|57 N N - 16 3105994 3105994 G A snp ncRNA_exonic MMP25-AS1 rs56307374 0.0686901 0 0.0828 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;G>A 487;22|14 Het;G>A 308;14|9 Hom;G>A 1252;2|30 N N - 16 3106003 3106003 T G snp ncRNA_exonic MMP25-AS1 rs55999592 0.0686901 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;T>G 452;22|13 Het;T>G 311;13|9 Hom;T>G 1302;0|30 N N - 16 3108404 3108404 A G snp ncRNA_exonic MMP25-AS1 rs7359440 0.135383 0.1269 0.1434 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;A>G 737;35|32 Het;A>G 598;27|26 Hom;A>G 1218;0|40 N N - 16 3108713 3108713 G C snp ncRNA_intronic BC045731 rs79530442 0.118011 0.1436 0.1066 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;G>C 812;37|35 Het;G>C 875;29|40 Hom;G>C 1464;2|50 N N - 16 3109032 3109032 G A snp nonsynonymous SNV G1622A G541E aliphatic,neutral polar,hydrophilic,charged(-) MMP25 Mmp25 ENSG00000008516 matrix metallopeptidase 25 chr16:3096682-3110727 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; kidney aging; Hepatitis C, Chronic|Liver Cirrhosis Neutrophil degranulation GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;NAS|GO:0043312;neutrophil degranulation;TAS|GO:0060022;hard palate development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP25 https://www.uniprot.org/uniprot/Q9NPA2 https://www.ncbi.nlm.nih.gov/omim/?term=608482 http://www.informatics.jax.org/searchtool/Search.do?query=MMP25&submit=Quick%0D%485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP25 rs7188234 0.090655 0.1116 0.1173 0.08 1 13 exonic exonic exonic MMP25 MMP25 ENSG00000008516 nonsynonymous SNV nonsynonymous SNV unknown MMP25:NM_022468:exon10:c.G1622A:p.G541E, MMP25:uc002cth.3:exon10:c.G1622A:p.G541E, UNKNOWN Het;G>A 1788;82|71 Het;G>A 1454;82|65 Hom;G>A 4211;2|150 N N - 16 3109293 3109293 C T snp ncRNA_exonic MMP25-AS1 rs7206865 0.0988419 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MMP25-AS1 BC045731 ENSG00000261971 Na Na Na Na Na Na Het;C>T 653;12|31 Het;C>T 433;31|22 Hom;C>T 1442;0|53 N N - 16 3109371 3109371 T TC indel ncRNA_exonic MMP25-AS1 rs139926695 0.101637 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic MMP25-AS1 MMP25(uc002cth.3:c.*272T>TC) ENSG00000261971 Na Na Na Na Na Na Het;+C 259;15|10 Het;+C 264;14|10 Hom;+C 1494;0|41 N N - 16 31343243 31343243 T C snp UTR3 *215T>C ITGAM Itgam ENSG00000169896 integrin subunit alpha M chr16:31271311-31344213 This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic; null; Type 2 Diabetes| edema | rosiglitazone; Glomerulonephritis, IGA; Macular Degeneration; diabetes, type 1 ; Lupus Erythematosus, Systemic|Nephritis; Arthritis|Kidney Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; systemic lupus erythematosus; gastric ulcer; systemic lupus erythematosus Homozygous null mice exhibit reduced staphylococcal enterotoxin- induced T cell proliferation, reduced neutrophil adhesion to fibrinogen, and defective homotypic aggregation and reduced degranulation of neutrophils. Neutrophil degranulation GO:0007155;cell adhesion;TAS|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0010668;ectodermal cell differentiation;IEP|GO:0030198;extracellular matrix organization;TAS|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0050900;leukocyte migration;TAS GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0001948;glycoprotein binding;IPI|GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGAM https://www.ncbi.nlm.nih.gov/omim/?term=120980 http://www.informatics.jax.org/searchtool/Search.do?query=ITGAM&submit=Quick%0D%12588ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAM rs4594268 0.686302 0 0 1 0 0 UTR3 UTR3 UTR3 ITGAM(NM_001145808:c.*215T>C,NM_000632:c.*215T>C) ITGAM(uc002ebq.3:c.*215T>C,uc002ebr.3:c.*215T>C,uc010can.3:c.*215T>C) ENSG00000169896(ENST00000544665:c.*215T>C) Na Na Na Na Na Na Het;T>C 194;6|7 Ref Hom;T>C 138;0|5 N N - 16 3142463 3142463 A G snp UTR5 -131T>C ZSCAN10 Zscan10 ENSG00000130182 zinc finger and SCAN domain containing 10 chr16:3138891-3149318 Mice homozygous for a gene trap allele exhibit a pleiotropic phenotype including reduced weight, mild hypoplasia in the spleen, heart and long bones, eye malformations including microphthalmia, altered platelet counts, an activated immune status, and behavioral alterations. Transcriptional regulation of pluripotent stem cells GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN10 https://www.uniprot.org/uniprot/Q96SZ4 http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN10&submit=Quick%0D%6328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN10 rs3810807 0.573482 0 0 1 0 0 intronic UTR5 intronic ZSCAN10 ZSCAN10(uc002ctx.1:c.-131T>C) ENSG00000130182 Na Na Na Na Na Na Het;A>G 593;18|22 Het;A>G 323;12|13 Hom;A>G 488;0|15 N N - 16 32139310 32139310 G A snp ncRNA_intronic HERC2P4 rs28446344 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic ZNF267(dist=210681),HERC2P4(dist=42054) VHDJH(dist=61636),HERC2P4(dist=23299) ENSG00000230267 Na Na Na Na Na Na Het;G>A 1115;7|36 Het;G>A 1158;8|41 Hom;G>A 1917;4|54 N N - 16 32366280 32366280 C T snp intergenic LOC390705 rs199846469 0 0 0 1 0 0 intergenic intergenic intergenic LOC390705(dist=64978),TP53TG3(dist=318569) DQ571479(dist=37224),TP53TG3(dist=318569) ENSG00000261127(dist=44404),ENSG00000260516(dist=2022) Na Na Na Na Na Na Het;C>T 135;1|7 Ref Hom;C>T 295;0|13 N N - 16 33240142 33240142 A G snp intronic TP53TG3C ENSG00000205457 TP53 target 3C chr16:33204156-33264727 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/TP53TG3C http://www.informatics.jax.org/searchtool/Search.do?query=TP53TG3C&submit=Quick%0D%17520ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53TG3C rs28971147 0 0 0 1 0 0 intergenic intergenic intronic TP53TG3(dist=31963),TP53TG3(dist=21976) abParts(dist=31285),TP53TG3B(dist=21978) ENSG00000205457 Na Na Na Na Na Na Het;A>G 285;5|12 Ref Hom;A>G 154;0|5 N N - 16 33293915 33293915 A G snp intergenic TP53TG3 ENSG00000183632 TP53 target 3 chr16:32684852-32688053 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/TP53TG3 https://www.ncbi.nlm.nih.gov/omim/?term=617482 http://www.informatics.jax.org/searchtool/Search.do?query=TP53TG3&submit=Quick%0D%15031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53TG3 rs12445255 0 0 0 1 0 0 intergenic intergenic intergenic TP53TG3(dist=29196),LOC390705(dist=4353) TP53TG3B(dist=29196),LOC390705(dist=4353) ENSG00000263204(dist=6323),ENSG00000262090(dist=4495) Na Na Na Na Na Na Het;A>G 310;6|9 Het;A>G 641;4|20 Hom;A>G 252;0|9 N N - 16 33351260 33351260 G A snp ncRNA_intronic AC136944.4 rs199631946 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC390705(dist=52558),RNU6-76P(dist=112247) DQ571479(dist=24777),RNU6-76P(dist=211950) ENSG00000261466 Na Na Na Na Na Na Het;G>A 101;13|4 Het;G>A 92;2|3 Hom;G>A 222;0|5 N N - 16 33351261 33351261 G A snp ncRNA_intronic AC136944.4 rs200641458 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC390705(dist=52559),RNU6-76P(dist=112246) DQ571479(dist=24778),RNU6-76P(dist=211949) ENSG00000261466 Na Na Na Na Na Na Het;G>A 101;12|4 Het;G>A 92;2|3 Hom;G>A 197;0|5 N N - 16 33491849 33491849 T C snp ncRNA_intronic RNU6-76P rs2334849 0 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic RNU6-76P DQ571479(dist=165366),RNU6-76P(dist=71361) ENSG00000260518 Na Na Na Na Na Na Het;T>C 95;1|3 Ref Hom;T>C 134;0|4 N N - 16 33515938 33515938 T C snp ncRNA_intronic RNU6-76P rs4092627 0 0 0 1 0 0 ncRNA_intronic intergenic intergenic RNU6-76P DQ571479(dist=189455),RNU6-76P(dist=47272) ENSG00000260518(dist=14967),ENSG00000261580(dist=55950) Na Na Na Na Na Na Het;T>C 88;2|4 Ref Hom;T>C 147;0|6 N N - 16 33572519 33572519 G C snp upstream;downstream ENSG00000260308 rs28415757 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic upstream;downstream ENPP7P13 JF934746 ENSG00000260308;ENSG00000261580 Na Na Na Na Na Na Het;G>C 154;1|7 Het;G>C 59;4|3 Hom;G>C 113;0|5 N N - 16 33943738 33943738 G C snp ncRNA_exonic DUX4L46 rs79920437 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic ENPP7P13(dist=356996),LINC00273(dist=17314) BC068290(dist=157210),LINC00273(dist=17314) ENSG00000259987 Na Na Na Na Na Na Het;G>C 263;1|7 Ref Hom;G>C 246;0|7 N N - 16 33943745 33943745 G C snp ncRNA_exonic DUX4L46 rs78080092 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic ENPP7P13(dist=357003),LINC00273(dist=17307) BC068290(dist=157217),LINC00273(dist=17307) ENSG00000259987 Na Na Na Na Na Na Het;G>C 263;1|7 Ref Hom;G>C 197;0|5 N N - 16 33943747 33943747 G A snp ncRNA_exonic DUX4L46 rs796111729 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic ENPP7P13(dist=357005),LINC00273(dist=17305) BC068290(dist=157219),LINC00273(dist=17305) ENSG00000259987 Na Na Na Na Na Na Het;G>A 148;1|7 Ref Hom;G>A 197;0|5 N N - 16 33964807 33964807 G A snp upstream JB175072 rs77254383 0 0 0 1 0 0 intergenic upstream upstream LINC00273(dist=2304),UBE2MP1(dist=438995) JB175072 ENSG00000200434 Na Na Na Na Na Na Het;G>A 218;2|6 Het;G>A 221;1|6 Hom;G>A 141;0|3 N N - 16 33964815 33964815 T C snp upstream JB175072 rs78020758 0 0 0 1 0 0 intergenic upstream upstream LINC00273(dist=2312),UBE2MP1(dist=438987) JB175072 ENSG00000200434 Na Na Na Na Na Na Het;T>C 218;2|6 Het;T>C 221;1|6 Hom;T>C 141;0|4 N N - 16 33965900 33965900 A G snp downstream RNA5-8SP2 rs36189779 0 0 0 1 0 0 intergenic downstream downstream LINC00273(dist=3397),UBE2MP1(dist=437902) JB175072 ENSG00000200434 Na Na Na Na Na Na Het;A>G 170;4|5 Ref Hom;A>G 287;0|7 N N - 16 33966100 33966100 C T snp downstream RNA5-8SP2 rs80076826 0 0 0 1 0 0 intergenic downstream downstream LINC00273(dist=3597),UBE2MP1(dist=437702) JB175072 ENSG00000200434 Na Na Na Na Na Na Het;C>T 176;2|5 Het;C>T 221;1|6 Hom;C>T 197;0|5 N N - 16 3533577 3533577 C G snp synonymous SNV C552G G184G aliphatic,neutral aliphatic,neutral NAA60 Naa60 ENSG00000122390 N(alpha)-acetyltransferase 60, NatF catalytic subunit chr16:3493611-3536963 This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015] Blood Pressure GO:0006334;nucleosome assembly;IDA|GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0007059;chromosome segregation;IEA|GO:0008283;cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0017196;N-terminal peptidyl-methionine acetylation;IDA|GO:0043967;histone H4 acetylation;IDA GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA GO:0004402;histone acetyltransferase activity;IEA|GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0008080;N-acetyltransferase activity;IEA|GO:0010485;H4 histone acetyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA60 https://www.uniprot.org/uniprot/Q9H7X0 https://www.ncbi.nlm.nih.gov/omim/?term=614246 http://www.informatics.jax.org/searchtool/Search.do?query=NAA60&submit=Quick%0D%5407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA60 rs1137454 0.715455 0.7067 0.6935 1 0 0 exonic exonic exonic NAA60 NAA60 ENSG00000122390,ENSG00000262621 synonymous SNV synonymous SNV unknown NAA60:NM_001083601:exon6:c.C552G:p.G184G,NAA60:NM_024845:exon5:c.C552G:p.G184G,NAA60:NM_001083600:exon5:c.C552G:p.G184G, NAA60:uc002cvg.2:exon4:c.C552G:p.G184G,NAA60:uc010uxb.1:exon5:c.C573G:p.G191G,NAA60:uc002cvh.4:exon6:c.C552G:p.G184G,NAA60:uc010btm.3:exon5:c.C552G:p.G184G,NAA60:uc021tcf.1:exon5:c.C552G:p.G184G,NAA60:uc010btk.1:exon4:c.C357G:p.G119G, UNKNOWN Het;C>G 939;72|39 Het;C>G 1064;53|50 Hom;C>G 1984;0|67 N N - 16 3534451 3534451 C T snp ncRNA_intronic AC004224.2 rs757270 0.5627 0 0 1 0 0 intronic intronic ncRNA_intronic NAA60 NAA60 ENSG00000263212 Na Na Na Na Na Na Het;C>T 81;1|3 Ref Hom;C>T 111;0|5 N N - 16 3534892 3534892 G A snp unknown NAA60 Naa60 ENSG00000122390 N(alpha)-acetyltransferase 60, NatF catalytic subunit chr16:3493611-3536963 This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015] Blood Pressure GO:0006334;nucleosome assembly;IDA|GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0007059;chromosome segregation;IEA|GO:0008283;cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0017196;N-terminal peptidyl-methionine acetylation;IDA|GO:0043967;histone H4 acetylation;IDA GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA GO:0004402;histone acetyltransferase activity;IEA|GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0008080;N-acetyltransferase activity;IEA|GO:0010485;H4 histone acetyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA60 https://www.uniprot.org/uniprot/Q9H7X0 https://www.ncbi.nlm.nih.gov/omim/?term=614246 http://www.informatics.jax.org/searchtool/Search.do?query=NAA60&submit=Quick%0D%5407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA60 rs13740 0.563498 0.6515 0.6514 0.12 1 8 UTR3 UTR5;UTR3 exonic NAA60(NM_001083601:c.*37G>A,NM_001083600:c.*37G>A,NM_024845:c.*37G>A) NAA60(uc010btl.3:c.-142G>A);NAA60(uc002cvh.4:c.*37G>A,uc021tcf.1:c.*37G>A,uc010btm.3:c.*37G>A) ENSG00000122390 Na Na unknown Na Na UNKNOWN Het;G>A 4956;199|209 Het;G>A 3922;202|176 Hom;G>A 9616;0|344 N N - 16 3535540 3535540 G A snp synonymous SNV G507A P169P hydrophobic,neutral hydrophobic,neutral NAA60 Naa60 ENSG00000122390 N(alpha)-acetyltransferase 60, NatF catalytic subunit chr16:3493611-3536963 This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015] Blood Pressure GO:0006334;nucleosome assembly;IDA|GO:0006474;N-terminal protein amino acid acetylation;IDA|GO:0007059;chromosome segregation;IEA|GO:0008283;cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0017196;N-terminal peptidyl-methionine acetylation;IDA|GO:0043967;histone H4 acetylation;IDA GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA GO:0004402;histone acetyltransferase activity;IEA|GO:0004596;peptide alpha-N-acetyltransferase activity;IDA|GO:0008080;N-acetyltransferase activity;IEA|GO:0010485;H4 histone acetyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/NAA60 https://www.uniprot.org/uniprot/Q9H7X0 https://www.ncbi.nlm.nih.gov/omim/?term=614246 http://www.informatics.jax.org/searchtool/Search.do?query=NAA60&submit=Quick%0D%5407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAA60 rs2240075 0.563299 0 0.6381 1 0 0 UTR3 exonic ncRNA_intronic NAA60(NM_001083601:c.*280G>A,NM_001083600:c.*280G>A,NM_024845:c.*302G>A) NAA60 ENSG00000263212 Na synonymous SNV Na Na NAA60:uc010btl.3:exon4:c.G507A:p.P169P, Na Het;G>A 796;45|39 Het;G>A 759;28|33 Hom;G>A 1252;0|46 N N - 16 4042449 4042449 C T snp intronic ADCY9 Adcy9 ENSG00000162104 adenylate cyclase 9 chr16:4003388-4166186 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] mood disorders; antipsychotic response | Weight Gain; asthma; mood disorder; Epilepsies, Partial|Syndrome; Epilepsies, Partial; Forced Vital Capacity; hypertension; Heart Failure; Body Mass Index; Malaria, Falciparum; bronchodilator response; bipolar disorder Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. Mice exhibit bradycardia and defects in left venticular diastolic function. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IMP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;TAS|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY9 https://www.ncbi.nlm.nih.gov/omim/?term=603302 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY9&submit=Quick%0D%10655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY9 rs2239307 0.558706 0 0 1 0 0 intronic intronic intronic ADCY9 ADCY9 ENSG00000162104 Na Na Na Na Na Na Het;C>T 324;7|11 Het;C>T 272;3|11 Hom;C>T 312;0|11 N N - 16 4043292 4043292 C G snp intronic ADCY9 Adcy9 ENSG00000162104 adenylate cyclase 9 chr16:4003388-4166186 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] mood disorders; antipsychotic response | Weight Gain; asthma; mood disorder; Epilepsies, Partial|Syndrome; Epilepsies, Partial; Forced Vital Capacity; hypertension; Heart Failure; Body Mass Index; Malaria, Falciparum; bronchodilator response; bipolar disorder Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. Mice exhibit bradycardia and defects in left venticular diastolic function. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IMP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;TAS|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY9 https://www.ncbi.nlm.nih.gov/omim/?term=603302 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY9&submit=Quick%0D%10655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY9 rs2239309 0.63738 0 0 1 0 0 intronic intronic intronic ADCY9 ADCY9 ENSG00000162104 Na Na Na Na Na Na Het;C>G 181;7|6 Het;C>G 122;4|6 Hom;C>G 262;0|7 N N - 16 4043701 4043701 G C snp intronic ADCY9 Adcy9 ENSG00000162104 adenylate cyclase 9 chr16:4003388-4166186 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] mood disorders; antipsychotic response | Weight Gain; asthma; mood disorder; Epilepsies, Partial|Syndrome; Epilepsies, Partial; Forced Vital Capacity; hypertension; Heart Failure; Body Mass Index; Malaria, Falciparum; bronchodilator response; bipolar disorder Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. Mice exhibit bradycardia and defects in left venticular diastolic function. Hedgehog 'off' state GO:0003091;renal water homeostasis;TAS|GO:0006171;cAMP biosynthetic process;IEA|GO:0006182;cGMP biosynthetic process;IBA|GO:0007165;signal transduction;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;TAS|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0009190;cyclic nucleotide biosynthetic process;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IMP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008074;guanylate cyclase complex, soluble;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA GO:0000166;nucleotide binding;IEA|GO:0004016;adenylate cyclase activity;TAS|GO:0004383;guanylate cyclase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016849;phosphorus-oxygen lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCY9 https://www.ncbi.nlm.nih.gov/omim/?term=603302 http://www.informatics.jax.org/searchtool/Search.do?query=ADCY9&submit=Quick%0D%10655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCY9 rs2531977 0.3748 0 0 1 0 0 intronic intronic intronic ADCY9 ADCY9 ENSG00000162104 Na Na Na Na Na Na Het;G>C 134;5|6 Het;G>C 38;2|3 Hom;G>C 131;0|5 N N - 16 4378178 4378178 A G snp ncRNA_intronic GLIS2-AS1 rs2906899 0.875599 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic GLIS2-AS1 TFAP4(dist=55177),GLIS2(dist=4038) ENSG00000262686 Na Na Na Na Na Na Het;A>G 433;16|20 Het;A>G 391;11|17 Hom;A>G 678;0|23 N N - 16 4445327 4445327 C T snp nonsynonymous SNV G524A R175Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral CORO7 Coro7 ENSG00000282725 coronin 7 chr16:4404543-4475706 Coronins, such as CORO7, constitute an evolutionarily conserved family of WD-repeat actin-binding proteins. CORO7 plays a role in Golgi complex morphology and function (Rybakin et al., 2004, 2006 [PubMed 15327992] [PubMed 16905771]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder Mice homozygous for a knock-out allele are viable and overtly normal but exhibit disruption of the Golgi apparatus. Mutant fibroblasts show increased cell spreading and cellular F-actin content, increased cell polarization and migration, and enhanced wound healing in a scratch-wound assay. GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0030041;actin filament polymerization;IMP GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA GO:0003779;actin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CORO7 https://www.ncbi.nlm.nih.gov/omim/?term=611668 http://www.informatics.jax.org/searchtool/Search.do?query=CORO7&submit=Quick%0D%22589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CORO7 rs3747579 0.507388 0.5476 0.6499 0.62 8 13 exonic exonic exonic CORO7,CORO7-PAM16 CORO7,CORO7-PAM16 ENSG00000103426,ENSG00000262246 nonsynonymous SNV nonsynonymous SNV unknown CORO7:NM_024535:exon7:c.G578A:p.R193Q,CORO7-PAM16:NM_001201479:exon7:c.G578A:p.R193Q,CORO7:NM_001201473:exon5:c.G323A:p.R108Q,CORO7:NM_001201472:exon7:c.G524A:p.R175Q, CORO7:uc010uxh.2:exon7:c.G524A:p.R175Q,CORO7:uc010uxi.2:exon5:c.G323A:p.R108Q,CORO7:uc002cwh.4:exon7:c.G578A:p.R193Q,CORO7-PAM16:uc002cwf.3:exon7:c.G578A:p.R193Q, UNKNOWN Het;C>T 845;35|35 Het;C>T 789;27|35 Hom;C>T 1533;0|59 N N - 16 4484328 4484328 A G snp intronic DNAJA3 Dnaja3 ENSG00000276726 DnaJ heat shock protein family (Hsp40) member A3 chr16:4475806-4506776 This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] longevity; Acquired Immunodeficiency Syndrome|Disease Progression Early embryonic development of homozygous null embryos is disrupted. Blastocysts develop and implant but die afterwards. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006457;protein folding;IEA|GO:0006915;apoptotic process;IEA|GO:0007005;mitochondrion organization;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009408;response to heat;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;ISS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019897;extrinsic component of plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;ISS|GO:0042645;mitochondrial nucleoid;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031072;heat shock protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAJA3 https://www.uniprot.org/uniprot/Q96EY1 https://www.ncbi.nlm.nih.gov/omim/?term=608382 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJA3&submit=Quick%0D%21670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJA3 rs4785962 0.563698 0 0 1 0 0 intronic intronic intronic DNAJA3 DNAJA3 ENSG00000103423 Na Na Na Na Na Na Het;A>G 481;24|22 Het;A>G 174;23|10 Hom;A>G 1511;0|51 N N - 16 4484396 4484396 A T snp nonsynonymous SNV A223T N75Y polar,hydrophilic,neutral aromatic,polar,hydrophobic DNAJA3 Dnaja3 ENSG00000276726 DnaJ heat shock protein family (Hsp40) member A3 chr16:4475806-4506776 This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] longevity; Acquired Immunodeficiency Syndrome|Disease Progression Early embryonic development of homozygous null embryos is disrupted. Blastocysts develop and implant but die afterwards. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006457;protein folding;IEA|GO:0006915;apoptotic process;IEA|GO:0007005;mitochondrion organization;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009408;response to heat;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;ISS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0005829;cytosol;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019897;extrinsic component of plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;ISS|GO:0042645;mitochondrial nucleoid;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031072;heat shock protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAJA3 https://www.uniprot.org/uniprot/Q96EY1 https://www.ncbi.nlm.nih.gov/omim/?term=608382 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJA3&submit=Quick%0D%21670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJA3 rs1139653 0.634984 0.7031 0.6834 0.15 2 13 exonic exonic exonic DNAJA3 DNAJA3 ENSG00000103423 nonsynonymous SNV nonsynonymous SNV unknown DNAJA3:NM_001135110:exon2:c.A223T:p.N75Y,DNAJA3:NM_005147:exon2:c.A223T:p.N75Y, DNAJA3:uc002cwl.3:exon2:c.A223T:p.N75Y,DNAJA3:uc002cwk.3:exon2:c.A223T:p.N75Y, UNKNOWN Het;A>T 1253;78|64 Het;A>T 927;54|49 Hom;A>T 3368;0|130 N N - 16 4519548 4519548 A G snp UTR3 *66T>C NMRAL1 Nmral1 ENSG00000274684 NmrA like redox sensor 1 chr16:4511681-4545764 This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] Urea cycle GO:0000050;urea cycle;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/NMRAL1 https://www.uniprot.org/uniprot/Q9HBL8 http://www.informatics.jax.org/searchtool/Search.do?query=NMRAL1&submit=Quick%0D%21173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NMRAL1 rs62039231 0.476238 0 0 1 0 0 intronic intronic UTR3 NMRAL1 NMRAL1 ENSG00000153406(ENST00000571291:c.*66T>C) Na Na Na Na Na Na Het;A>G 402;11|12 Het;A>G 162;4|6 Hom;A>G 425;0|14 N N - 16 4524060 4524060 C A snp intronic NMRAL1 Nmral1 ENSG00000274684 NmrA like redox sensor 1 chr16:4511681-4545764 This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] Urea cycle GO:0000050;urea cycle;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/NMRAL1 https://www.uniprot.org/uniprot/Q9HBL8 http://www.informatics.jax.org/searchtool/Search.do?query=NMRAL1&submit=Quick%0D%21173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NMRAL1 rs3761680 0.475439 0.5423 0.6310 1 0 0 intronic intronic intronic NMRAL1 NMRAL1 ENSG00000153406 Na Na Na Na Na Na Het;C>A 1534;53|69 Het;C>A 1085;55|52 Hom;C>A 2917;1|111 N N - 16 456416 456416 T G snp intronic DECR2 Decr2 ENSG00000274296 2,4-dienoyl-CoA reductase 2 chr16:451826-462487 Beta-oxidation of very long chain fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0008670;2,4-dienoyl-CoA reductase (NADPH) activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DECR2 https://www.ncbi.nlm.nih.gov/omim/?term=615839 http://www.informatics.jax.org/searchtool/Search.do?query=DECR2&submit=Quick%0D%21090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DECR2 rs3743890 0.403155 0.4188 0.4549 1 0 0 intronic intronic intronic DECR2 DECR2 ENSG00000103202,ENSG00000242612 Na Na Na Na Na Na Het;T>G 547;24|26 Het;T>G 702;14|31 Hom;T>G 1503;0|56 N N - 16 456483 456483 T C snp intronic DECR2 Decr2 ENSG00000274296 2,4-dienoyl-CoA reductase 2 chr16:451826-462487 Beta-oxidation of very long chain fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0008670;2,4-dienoyl-CoA reductase (NADPH) activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DECR2 https://www.ncbi.nlm.nih.gov/omim/?term=615839 http://www.informatics.jax.org/searchtool/Search.do?query=DECR2&submit=Quick%0D%21090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DECR2 rs3785290 0.620407 0 0 1 0 0 intronic intronic intronic DECR2 DECR2 ENSG00000103202,ENSG00000242612 Na Na Na Na Na Na Het;T>C 253;11|12 Het;T>C 367;4|15 Hom;T>C 1095;0|40 N N - 16 457226 457226 G A snp intronic DECR2 Decr2 ENSG00000274296 2,4-dienoyl-CoA reductase 2 chr16:451826-462487 Beta-oxidation of very long chain fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0008670;2,4-dienoyl-CoA reductase (NADPH) activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DECR2 https://www.ncbi.nlm.nih.gov/omim/?term=615839 http://www.informatics.jax.org/searchtool/Search.do?query=DECR2&submit=Quick%0D%21090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DECR2 rs13331692 0.395966 0 0 1 0 0 intronic intronic intronic DECR2 DECR2 ENSG00000103202,ENSG00000242612 Na Na Na Na Na Na Het;G>A 40;3|3 Ref Hom;G>A 123;0|4 N N - 16 460504 460504 C T snp intronic DECR2 Decr2 ENSG00000274296 2,4-dienoyl-CoA reductase 2 chr16:451826-462487 Beta-oxidation of very long chain fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0008670;2,4-dienoyl-CoA reductase (NADPH) activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DECR2 https://www.ncbi.nlm.nih.gov/omim/?term=615839 http://www.informatics.jax.org/searchtool/Search.do?query=DECR2&submit=Quick%0D%21090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DECR2 rs3743893 0.396166 0 0 1 0 0 intronic intronic intronic DECR2 DECR2 ENSG00000242612 Na Na Na Na Na Na Het;C>T 143;10|6 Ref Hom;C>T 324;0|8 N N - 16 460543 460543 A C snp intronic DECR2 Decr2 ENSG00000274296 2,4-dienoyl-CoA reductase 2 chr16:451826-462487 Beta-oxidation of very long chain fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0008670;2,4-dienoyl-CoA reductase (NADPH) activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DECR2 https://www.ncbi.nlm.nih.gov/omim/?term=615839 http://www.informatics.jax.org/searchtool/Search.do?query=DECR2&submit=Quick%0D%21090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DECR2 rs3743894 0.488618 0 0 1 0 0 intronic intronic intronic DECR2 DECR2 ENSG00000242612 Na Na Na Na Na Na Het;A>C 177;8|6 Het;A>C 106;6|7 Hom;A>C 424;0|12 N N - 16 4625126 4625126 G A snp intronic C16orf96 4930562C15Rik ENSG00000205832 chromosome 16 open reading frame 96 chr16:4606491-4650715 http://www.genecards.org/index.php?path=/Search/keyword/C16orf96 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf96&submit=Quick%0D%17567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf96 rs9673241 0.445288 0.4967 0.5021 1 0 0 intronic intronic intronic C16orf96 C16orf96 ENSG00000205832 Na Na Na Na Na Na Het;G>A 1433;44|55 Het;G>A 935;27|37 Hom;G>A 1727;0|55 N N - 16 46427965 46427965 C G snp intergenic NONE rs4966690 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),ANKRD26P1(dist=75284) NONE(dist=NONE),ANKRD26P1(dist=75284) NONE(dist=NONE),ENSG00000261239(dist=75288) Na Na Na Na Na Na Het;C>G 53;1|2 Ref Hom;C>G 197;0|5 N N - 16 47839274 47839274 G GTAGA indel ncRNA_intronic LINC02133 rs10668567 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic PHKB(dist=103840),LOC100507534(dist=43951) PHKB(dist=103840),BC048130(dist=43951) ENSG00000261231 Na Na Na Na Na Na Het;+TAGA 814;5|19 Het;+TAGA 893;5|21 Hom;+TAGA 1131;2|27 N N - 16 4949528 4949528 G T snp intronic PPL Ppl ENSG00000118898 periplakin chr16:4932508-5010742 The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Bulimia; Erythrocyte Count; Hemoglobins Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities. Butyrophilin (BTN) family interactions GO:0007010;cytoskeleton organization;IEA|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPL https://www.uniprot.org/uniprot/O60437 https://www.ncbi.nlm.nih.gov/omim/?term=602871 http://www.informatics.jax.org/searchtool/Search.do?query=PPL&submit=Quick%0D%5016ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPL rs28375268 0.517572 0 0 1 0 0 intronic intronic intronic PPL PPL ENSG00000118898 Na Na Na Na Na Na Het;G>T 180;4|6 Ref Hom;G>T 120;0|4 N N - 16 49889372 49889372 A G snp intronic ZNF423 Zfp423 ENSG00000102935 zinc finger protein 423 chr16:49521435-49891830 The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012] Attention Deficit Disorder with Hyperactivity; Fibrinogen; Tobacco Use Disorder; Erythrocyte Count; Asthma; Cell Adhesion Molecules; inattentive symptoms Mutations in this gene lead to postnatal lethality, abnormal gait, ataxia, reduced body size, loss of the corpus callosum, reduction of the hippocampus, olfactory bulb defects, and variable malformation of the cerebellum, including vermis agenesis, due to reduced proliferation of neural precursors. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF423 https://www.uniprot.org/uniprot/Q2M1K9 https://hpo.jax.org/app/browse/search?q=ZNF423&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604557 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF423&submit=Quick%0D%2938ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF423 rs116915980 0.202077 0 0 1 0 0 intronic intronic intronic ZNF423 ZNF423 ENSG00000102935 Na Na Na Na Na Na Het;A>G 37;4|3 Ref Hom;A>G 71;0|4 N N - 16 5075542 5075542 G A snp synonymous SNV C1485T N495N polar,hydrophilic,neutral polar,hydrophilic,neutral NAGPA Nagpa ENSG00000103174 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase chr16:5074845-5084142 Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015] Mice homozygous for a null allele have an increased level of acid hydrolases, however the hydrolases contain GlcNAc-P-Man diesters, exhibit a decreased affinity for the cation-independent mannose 6-phosphate receptor and fail to bind to the cation-dependent mannose 6-phosphate receptor. GO:0005975;carbohydrate metabolic process;TAS|GO:0006464;cellular protein modification process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006622;protein targeting to lysosome;TAS|GO:0007040;lysosome organization;TAS|GO:0033299;secretion of lysosomal enzymes;IEA GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA GO:0003944;N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAGPA https://www.uniprot.org/uniprot/Q9UK23 https://www.ncbi.nlm.nih.gov/omim/?term=607985 http://www.informatics.jax.org/searchtool/Search.do?query=NAGPA&submit=Quick%0D%2978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGPA rs887854 0.792532 0.7173 0.7017 1 0 0 exonic exonic exonic NAGPA NAGPA ENSG00000103174 synonymous SNV synonymous SNV unknown NAGPA:NM_016256:exon10:c.C1485T:p.N495N, NAGPA:uc010buc.3:exon5:c.C576T:p.N192N,NAGPA:uc002cyg.3:exon10:c.C1485T:p.N495N, UNKNOWN Het;G>A 1582;76|75 Het;G>A 1114;76|55 Hom;G>A 4293;0|172 N N - 16 5077395 5077402 TGGGAGGA T indel ncRNA_intronic NAGPA-AS1 rs59131700 0.367612 0.3786 0.3853 1 0 0 intronic intronic ncRNA_intronic NAGPA NAGPA ENSG00000267072 Na Na Na Na Na Na Het;-GGGAGGA 1208;29|32 Het;-GGGAGGA 1615;33|45 Hom;-GGGAGGA 2753;1|65 N N - 16 5083483 5083483 T C snp synonymous SNV A333G G111G aliphatic,neutral aliphatic,neutral NAGPA Nagpa ENSG00000103174 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase chr16:5074845-5084142 Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015] Mice homozygous for a null allele have an increased level of acid hydrolases, however the hydrolases contain GlcNAc-P-Man diesters, exhibit a decreased affinity for the cation-independent mannose 6-phosphate receptor and fail to bind to the cation-dependent mannose 6-phosphate receptor. GO:0005975;carbohydrate metabolic process;TAS|GO:0006464;cellular protein modification process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006622;protein targeting to lysosome;TAS|GO:0007040;lysosome organization;TAS|GO:0033299;secretion of lysosomal enzymes;IEA GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA GO:0003944;N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAGPA https://www.uniprot.org/uniprot/Q9UK23 https://www.ncbi.nlm.nih.gov/omim/?term=607985 http://www.informatics.jax.org/searchtool/Search.do?query=NAGPA&submit=Quick%0D%2978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAGPA rs2972272 0.730232 0.6829 0.7102 1 0 0 exonic exonic exonic NAGPA NAGPA ENSG00000103174 synonymous SNV synonymous SNV unknown NAGPA:NM_016256:exon2:c.A333G:p.G111G, NAGPA:uc010uxx.2:exon2:c.A333G:p.G111G,NAGPA:uc002cyg.3:exon2:c.A333G:p.G111G, UNKNOWN Het;T>C 243;7|11 Het;T>C 107;22|7 Hom;T>C 875;0|31 N N - 16 5092266 5092266 A G snp ncRNA_exonic NAGPA-AS1 rs2008995 0.312101 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR5 NAGPA-AS1 NAGPA-AS1 ENSG00000033011(ENST00000588623:c.-30935A>G) Na Na Na Na Na Na Het;A>G 3442;106|138 Het;A>G 1776;77|72 Hom;A>G 5055;0|175 N N - 16 5094570 5094570 G A snp UTR3 *14C>T C16orf89 AU021092 ENSG00000153446 chromosome 16 open reading frame 89 chr16:5094123-5116111 This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/C16orf89 https://www.uniprot.org/uniprot/Q6UX73 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf89&submit=Quick%0D%9665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf89 rs8055684 0.290735 0.2363 0.3854 1 0 0 UTR3 UTR3 UTR3 C16orf89(NM_152459:c.*14C>T) C16orf89(uc010bud.3:c.*14C>T) ENSG00000153446(ENST00000315997:c.*14C>T,ENST00000474471:c.*14C>T,ENST00000350219:c.*14C>T) Na Na Na Na Na Na Het;G>A 415;4|15 Het;G>A 100;14|5 Hom;G>A 309;0|11 N N - 16 5098090 5098090 G A snp intronic C16orf89 AU021092 ENSG00000153446 chromosome 16 open reading frame 89 chr16:5094123-5116111 This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/C16orf89 https://www.uniprot.org/uniprot/Q6UX73 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf89&submit=Quick%0D%9665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf89 rs8053427 0.710663 0 0 1 0 0 intronic intronic intronic C16orf89 ALG1,C16orf89 ENSG00000033011,ENSG00000153446 Na Na Na Na Na Na Het;G>A 85;1|3 Ref Hom;G>A 272;0|7 N N - 16 5206948 5206948 T C snp intergenic EEF2KMT Eef2kmt rs9673596 0.196685 0 0 1 0 0 intergenic intergenic intergenic EEF2KMT(dist=59127),LINC01570(dist=444222) FAM86A(dist=59159),BC108660(dist=82868) ENSG00000267070(dist=14352),ENSG00000260431(dist=50141) Na Na Na Na Na Na Het;T>C 141;15|8 Het;T>C 319;11|15 Hom;T>C 463;0|16 N N - 16 5338633 5338633 C CT indel ncRNA_intronic AC074051.2 rs71142608 0.909744 0 0 1 0 0 intergenic intronic ncRNA_intronic EEF2KMT(dist=190812),LINC01570(dist=312537) BC108660 ENSG00000260411 Na Na Na Na Na Na Het;+T 666;12|35 Het;+T 1143;9|57 Hom;+T 1612;5|51 N N - 16 539088 539088 T TAA indel intronic RAB11FIP3 Rab11fip3 ENSG00000275338 RAB11 family interacting protein 3 chr16:475619-573011 Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] VxPx cargo-targeting to cilium GO:0000910;cytokinesis;IMP|GO:0006810;transport;IEA|GO:0007049;cell cycle;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0032456;endocytic recycling;IDA|GO:0051301;cell division;IEA|GO:0070164;negative regulation of adiponectin secretion;IDA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045171;intercellular bridge;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051959;dynein light intermediate chain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP3 https://www.uniprot.org/uniprot/O75154 https://www.ncbi.nlm.nih.gov/omim/?term=608738 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP3&submit=Quick%0D%21329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP3 rs3830847 0.408946 0 0 1 0 0 intronic intronic intronic RAB11FIP3 RAB11FIP3 ENSG00000090565 Na Na Na Na Na Na Het;+AA 1563;27|42 Het;+AA 1308;27|35 Hom;+AA 1961;1|47 N N - 16 539093 539093 G C snp intronic RAB11FIP3 Rab11fip3 ENSG00000275338 RAB11 family interacting protein 3 chr16:475619-573011 Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] VxPx cargo-targeting to cilium GO:0000910;cytokinesis;IMP|GO:0006810;transport;IEA|GO:0007049;cell cycle;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0032456;endocytic recycling;IDA|GO:0051301;cell division;IEA|GO:0070164;negative regulation of adiponectin secretion;IDA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045171;intercellular bridge;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051959;dynein light intermediate chain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP3 https://www.uniprot.org/uniprot/O75154 https://www.ncbi.nlm.nih.gov/omim/?term=608738 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP3&submit=Quick%0D%21329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP3 rs74390230 0.159944 0 0 1 0 0 intronic intronic intronic RAB11FIP3 RAB11FIP3 ENSG00000090565 Na Na Na Na Na Na Het;G>C 1480;24|36 Het;G>C 1275;23|33 Hom;G>C 1851;1|42 N N - 16 539140 539140 C A snp intronic RAB11FIP3 Rab11fip3 ENSG00000275338 RAB11 family interacting protein 3 chr16:475619-573011 Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] VxPx cargo-targeting to cilium GO:0000910;cytokinesis;IMP|GO:0006810;transport;IEA|GO:0007049;cell cycle;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0032456;endocytic recycling;IDA|GO:0051301;cell division;IEA|GO:0070164;negative regulation of adiponectin secretion;IDA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045171;intercellular bridge;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051959;dynein light intermediate chain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP3 https://www.uniprot.org/uniprot/O75154 https://www.ncbi.nlm.nih.gov/omim/?term=608738 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP3&submit=Quick%0D%21329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP3 rs2038227 0.562899 0 0 1 0 0 intronic intronic intronic RAB11FIP3 RAB11FIP3 ENSG00000090565 Na Na Na Na Na Na Het;C>A 315;10|10 Het;C>A 181;6|7 Hom;C>A 454;0|13 N N - 16 5597690 5597690 G A snp ncRNA_intronic AC074051.2 rs4786705 0.799521 0 0 1 0 0 intergenic intronic ncRNA_intronic EEF2KMT(dist=449869),LINC01570(dist=53480) BC108660 ENSG00000260411 Na Na Na Na Na Na Het;G>A 412;18|20 Het;G>A 480;20|24 Hom;G>A 885;0|33 N N - 16 5661406 5661406 C G snp ncRNA_intronic LINC01570 rs11649599 0.545727 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01570 BC108660(dist=12266),RBFOX1(dist=407726) ENSG00000260338,ENSG00000260411 Na Na Na Na Na Na Het;C>G 850;31|32 Het;C>G 521;34|24 Hom;C>G 1457;0|48 N N - 16 56852822 56852822 G T snp intronic NUP93 Nup93 ENSG00000102900 nucleoporin 93 chr16:56764017-56878797 Body Mass Index; HDL cholesterol; Body Weight tRNA processing in the nucleus GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006998;nuclear envelope organization;IDA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0072001;renal system development;IEA|GO:0072015;glomerular visceral epithelial cell development;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0090521;glomerular visceral epithelial cell migration;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP http://www.genecards.org/index.php?path=/Search/keyword/NUP93 https://www.uniprot.org/uniprot/Q8N1F7 https://hpo.jax.org/app/browse/search?q=NUP93&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614351 http://www.informatics.jax.org/searchtool/Search.do?query=NUP93&submit=Quick%0D%2929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP93 rs1561139 0.464457 0 0 1 0 0 intronic intronic intronic NUP93 NUP93 ENSG00000102900 Na Na Na Na Na Na Het;G>T 129;6|5 Ref Hom;G>T 129;0|4 N N - 16 57015335 57015347 GCTGCCAGGAAGA G indel intronic CETP ENSG00000087237 cholesteryl ester transfer protein chr16:56995762-57017757 The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] cardiovascular events in non-smokers; atherosclerosis, generalized; lipoproteins and HDL; Lipid disorders; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; myocardial infarction | metabolic syndrome; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Myocardial ischemia; Diabetes mellitus; cardiovascular disease; cholesterol, LDL; lipoprotein; asthma; lipids; memory impairment; cholesterol, HDL; Acute Coronary Syndrome; Coronary Artery Disease|Coronary Stenosis; Dyslipidemias|Hypertriglyceridemia; Hypertriglyceridemia|Hypopituitarism|Metabolic Syndrome X; lung cancer ; Diseases in Twins|Obstetric Labor, Premature; myocardial infarct; atherosclerosis, coronary; cardiovascular disease risk; hyperlipidemia; Lymphoma, Non-Hodgkin; waist circumference and related phenotypes; Atherosclerosis|Hypercholesterolemia; Atherosclerosis|Myocardial Infarction; heart disease, ischemic; cholesterol, HDL; cholesteryl ester transfer protein; Biochemical measures; dementia; low CETP activity; Dyslipidemias|Nephrotic Syndrome; bladder cancer; blood pressure, arterial; cholelithiasis; Abortion, Spontaneous|Thrombosis; Acute Coronary Syndrome|; Coronary Disease|Hypertension; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Lipid Metabolism, Inborn Errors; cognitive function; carotid atherosclerosis; Brain Ischemia|Dementia|Myocardial Infarction; Lipids; atherosclerosis, carotid; hypertension, pregnancy induced preeclampsia; Carotid Artery Diseases|; Brain Ischemia|; Coronary Disease|Coronary heart disease|Hyperlipidemias; Cardiovascular Diseases|Dementia|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Obesity; cholesterol, HDL; lipoprotein; pharmacogenetic studies; Brain Injuries|Dementia, Vascular|; plasma lipoprotein traits; patent ductus arteriosus; Metabolic Syndrome X|Obesity; Cardiovascular Diseases|Myocardial Infarction; hypertension; Coronary Artery Disease|Myocardial Infarction; intima-media thickness; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; macroangiopathy; Myocardial Infarction; vitamin E and carotenoids; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders; Apoplexy|Stroke; cholesterol, HDL cholesterol, LDL hypertriglyceridemia lipoproteins triglycerides; high plasma CETP activity.; Hyperlipoproteinemias; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Obesity; lipoproteins; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Coronary Disease|Coronary heart disease|Death, Sudden|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies; exceptional longevity; Atrial Fibrillation|; Dyslipidemias|Vascular Diseases; Macular Degeneration; HDL cholesterol; Arteriosclerosis|Carotid Artery Diseases; diabetes mellitus; cholesteryl ester transfer protein plasma lipid levels; Brain Ischemia|Stroke; nephropathy; diabetes, type 2; chronic obstructive pulmonary disease; Cardiovascular Diseases; preeclamptic pregnancies; gallstones; lipid profiles; cholesterol, HDL; triglycerides; atherosclerosis, coronary; LDL cholesterol; Coronary Disease|Coronary heart disease; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Cholesterol, HDL; triglycerides; hypercholesterolemia; Hyperlipoproteinemia Type II; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Metabolic Syndrome X; Apoplexy|Brain Ischemia|Stroke; obesity; restenosis; BMI- Edema rosiglitazone or pioglitazone; Apolipoprotein A-I; myocardial infarct; diabetes, type 2; low high-density lipoprotein cholesterol concentration; lipids; insulin and HOMA levels; null; Hypercholesterolemia|LDLC levels; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myocardial Infarction; Heart Diseases|Hypercholesterolemia|Hypertension; metabolic syndrome; Glomerulonephritis, IGA; Coronary Stenosis; cholesterol; cholesterol, HDL; lipoprotein; lipids; Coronary Artery Disease|Hypercholesterolemia; Hypercholesterolemia; cardiovascular; HDL Cholesterol; Hypertension/complications*; Body Weight; Coronary Disease|Coronary heart disease|Inflammation|Myocardial Infarction|Recurrence; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; cholesterol, HDL; cholesterol, LDL; lathosterol; lipid profile; cholesterol, HDL obesity; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hyperlipidemias|Hypertension; Lipoproteins, HDL; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; lipoprotein, LDL; lipids; preeclampsia; apolipoproteins; Coronary Artery Disease; cholesteryl ester transfer protein; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; atrial fibrillation; Cardiovascular Diseases|; fluvastatin induced cholesterol changes; Type 2 diabetes; lipid metabolism; Kidney Failure, Chronic; Atherosclerosis; Coronary Artery Disease|Hyperlipidemias; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; normal variation; Biliary calculi|Biliary Tract Neoplasm|Biliary Tract Neoplasms|Gallstones; Coronary Artery Disease|Coronary Stenosis|Myocardial Infarction; Cholesterol, HDL/blood*; Coronary Artery Disease|Recurrence; Iron; Coronary Artery Disease|; cholesterol, HDL; triglycerides; Recurrence|Venous Thromboembolism; Myocardial Infarction|Stroke; lipid levels; lung cancer; Hypercholesterolemia|Hypertension; Hypertriglyceridemia; alcohol; plasma HDL-C levels; Coronary Disease; Coronary Artery Disease|Hyperlipidemia, Familial Combined; myocardial infarction; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; macro- and microangiopathy; Alzheimer's Disease; Amyotrophic Lateral Sclerosis|; Cardiovascular Diseases|Obesity|Virilism; Cleft Lip|Cleft Palate; lipoprotein; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease ; lipoproteins and plasma lipids; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; cholesterol, HDL cholesterol, LDL; Cholesterol; atherosclerosis, coronary cholesterol, HDL triglycerides; cholesterol; triglycerides; diabetes, type 2; cholesterol, LDL; lipoproteins; indulinh; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Hyperlipidemias; Atrial Fibrillation; Arteries; Cardiovascular Diseases|Memory Disorders; plasma high-density lipoprotein cholesterol levels HDL remodeling GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IDA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;IC|GO:0010874;regulation of cholesterol efflux;IMP|GO:0015914;phospholipid transport;IDA|GO:0030301;cholesterol transport;IDA|GO:0034197;triglyceride transport;IDA|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034374;low-density lipoprotein particle remodeling;TAS|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0042632;cholesterol homeostasis;IMP|GO:0043691;reverse cholesterol transport;IC|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0055088;lipid homeostasis;IDA|GO:0055091;phospholipid homeostasis;IDA|GO:0070328;triglyceride homeostasis;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0031982;vesicle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0070062;extracellular exosome;IDA GO:0005319;lipid transporter activity;IDA|GO:0005548;phospholipid transporter activity;IDA|GO:0008289;lipid binding;IDA|GO:0015485;cholesterol binding;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0017129;triglyceride binding;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CETP https://www.uniprot.org/uniprot/P11597 https://hpo.jax.org/app/browse/search?q=CETP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=118470 http://www.informatics.jax.org/searchtool/Search.do?query=CETP&submit=Quick%0D%1960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CETP rs11276066 0.789337 0 0 1 0 0 intronic intronic intronic CETP CETP ENSG00000087237 Na Na Na Na Na Na Het;-CTGCCAGGAAGA 32;5|2 Ref Hom;-CTGCCAGGAAGA 233;0|6 N N - 16 57430803 57430803 G C snp intergenic CX3CL1 Cx3cl1 ENSG00000006210 C-X3-C motif chemokine ligand 1 chr16:57406370-57418960 psoriasis; asthma atopy; atherosclerosis; Brain Ischemia|Stroke; Alzheimer's disease ; Atherosclerosis; colorectal cancer; Type 2 Diabetes| edema | rosiglitazone; HIV Infections Mice homozygous for a knock-out allele show a specific reduction in Gr1(low) monocyte levels, and increased neuronal cell loss in a neurotoxin (MPTP)-induced model of Parkinson disease. Mice homozygous for a different knock-out allele are less susceptible to cerebral ischemia-reperfusion injury. Chemokine receptors bind chemokines GO:0002523;leukocyte migration involved in inflammatory response;IMP|GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;IDA|GO:0006952;defense response;TAS|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0030336;negative regulation of cell migration;IDA|GO:0030593;neutrophil chemotaxis;IBA|GO:0030595;leukocyte chemotaxis;TAS|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0033622;integrin activation;IMP|GO:0042060;wound healing;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0050729;positive regulation of inflammatory response;IEP|GO:0050902;leukocyte adhesive activation;TAS|GO:0051041;positive regulation of calcium-independent cell-cell adhesion;IDA|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0060326;cell chemotaxis;IEA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005178;integrin binding;IDA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;IDA|GO:0031737;CX3C chemokine receptor binding;IDA|GO:0048020;CCR chemokine receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CX3CL1 https://www.uniprot.org/uniprot/P78423 https://www.ncbi.nlm.nih.gov/omim/?term=601880 http://www.informatics.jax.org/searchtool/Search.do?query=CX3CL1&submit=Quick%0D%393ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CX3CL1 rs659616 0.391374 0 0 1 0 0 intergenic intergenic intergenic CX3CL1(dist=11843),CCL17(dist=7876) CX3CL1(dist=11847),CCL17(dist=7876) ENSG00000006210(dist=11843),ENSG00000102970(dist=7876) Na Na Na Na Na Na Het;G>C 151;1|7 Het;G>C 159;2|9 Hom;G>C 237;0|9 N N - 16 57496494 57496494 A G snp ncRNA_exonic AC009052.1 rs178601 0.758586 0 0 1 0 0 upstream upstream ncRNA_exonic POLR2C POLR2C ENSG00000260345 Na Na Na Na Na Na Het;A>G 41;2|2 Ref Hom;A>G 118;0|4 N N - 16 60643528 60643528 C T snp intergenic LOC729159 rs1595143 0.604233 0 0 1 0 0 intergenic intergenic intergenic LOC729159(dist=249861),MIR4426(dist=446083) LOC644649(dist=854433),CDH8(dist=1042387) ENSG00000261310(dist=86374),ENSG00000259844(dist=44611) Na Na Na Na Na Na Het;C>T 52;9|3 Het;C>T 278;2|10 Hom;C>T 325;0|12 N N - 16 624114 624114 A G snp nonsynonymous SNV A40G T14A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs2071979 0.531949 0.4318 0.4908 0.23 3 13 exonic exonic exonic PIGQ PIGQ ENSG00000007541 nonsynonymous SNV nonsynonymous SNV unknown PIGQ:NM_148920:exon2:c.A40G:p.T14A,PIGQ:NM_004204:exon2:c.A40G:p.T14A, PIGQ:uc002chm.3:exon2:c.A40G:p.T14A,PIGQ:uc002cho.3:exon2:c.A40G:p.T14A,PIGQ:uc010bqw.3:exon3:c.A40G:p.T14A,PIGQ:uc010uui.2:exon2:c.A82G:p.T28A,PIGQ:uc002chn.3:exon2:c.A40G:p.T14A, UNKNOWN Het;A>G 1250;68|57 Het;A>G 1299;60|57 Hom;A>G 1748;0|63 N N - 16 624713 624713 C T snp synonymous SNV C639T C213C polar,hydrophobic,neutral polar,hydrophobic,neutral PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs4984669 0.536542 0.4308 0.5018 1 0 0 exonic exonic exonic PIGQ PIGQ ENSG00000007541 synonymous SNV synonymous SNV unknown PIGQ:NM_148920:exon2:c.C639T:p.C213C,PIGQ:NM_004204:exon2:c.C639T:p.C213C, PIGQ:uc002chm.3:exon2:c.C639T:p.C213C,PIGQ:uc002cho.3:exon2:c.C639T:p.C213C,PIGQ:uc010bqw.3:exon3:c.C639T:p.C213C,PIGQ:uc010uui.2:exon2:c.C681T:p.C227C,PIGQ:uc002chn.3:exon2:c.C639T:p.C213C, UNKNOWN Het;C>T 968;39|46 Het;C>T 564;38|30 Hom;C>T 1693;0|65 N N - 16 626346 626346 A C snp UTR3 *297A>C PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs2071980 0.533946 0 0 1 0 0 intronic UTR3 UTR3 PIGQ PIGQ(uc002chm.3:c.*297A>C) ENSG00000007541(ENST00000470411:c.*297A>C) Na Na Na Na Na Na Het;A>C 228;4|9 Het;A>C 258;9|10 Hom;A>C 604;0|22 N N - 16 628302 628302 A G snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs3752568 0.532149 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;A>G 200;19|12 Het;A>G 172;15|8 Hom;A>G 550;0|20 N N - 16 628994 628998 TGGGC T indel intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs113780855 0.532348 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;-GGGC 1545;34|40 Het;-GGGC 1152;33|31 Hom;-GGGC 2568;0|59 N N - 16 629006 629006 C T snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs59476302 0.532348 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;C>T 1623;34|40 Het;C>T 1166;32|29 Hom;C>T 2622;0|57 N N - 16 630089 630089 C T snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs7191939 0.524161 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;C>T 237;1|8 Het;C>T 33;3|2 Hom;C>T 547;0|18 N N - 16 630367 630367 C T snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs7192508 0.531749 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;C>T 518;12|18 Het;C>T 67;2|3 Hom;C>T 432;0|13 N N - 16 630405 630405 T G snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs2071982 0.531749 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;T>G 220;5|7 Ref Hom;T>G 288;0|8 N N - 16 632138 632138 C T snp nonsynonymous SNV C70T R24W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs4262946 0.449281 0 0.4862 1 0 0 intronic exonic intronic PIGQ PIGQ ENSG00000007541 Na nonsynonymous SNV Na Na PIGQ:uc002chp.3:exon1:c.C70T:p.R24W, Na Het;C>T 141;8|7 Het;C>T 114;3|5 Hom;C>T 152;0|5 N N - 16 632180 632180 G C snp nonsynonymous SNV G112C A38P aliphatic,hydrophobic,neutral hydrophobic,neutral PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs4984897 0.528754 0 0.5068 1 0 0 intronic exonic intronic PIGQ PIGQ ENSG00000007541 Na nonsynonymous SNV Na Na PIGQ:uc002chp.3:exon1:c.G112C:p.A38P, Na Het;G>C 381;12|15 Het;G>C 202;5|8 Hom;G>C 509;0|18 N N - 16 632198 632198 T A snp nonsynonymous SNV T130A W44R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs916416 0.528954 0.4017 0.5163 1 0 0 intronic exonic intronic PIGQ PIGQ ENSG00000007541 Na nonsynonymous SNV Na Na PIGQ:uc002chp.3:exon1:c.T130A:p.W44R, Na Het;T>A 505;17|19 Het;T>A 253;6|10 Hom;T>A 639;0|23 N N - 16 632225 632225 T C snp nonsynonymous SNV T157C S53P polar,hydrophilic,neutral hydrophobic,neutral PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs4006748 0.528754 0.3952 0.5179 1 0 0 intronic exonic intronic PIGQ PIGQ ENSG00000007541 Na nonsynonymous SNV Na Na PIGQ:uc002chp.3:exon1:c.T157C:p.S53P, Na Het;T>C 860;26|23 Het;T>C 512;16|13 Hom;T>C 1761;0|37 N N - 16 632230 632231 CG C indel frameshift substitution 162_163C PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs67976359 0.521765 0.4132 0.5140 1 0 0 intronic exonic intronic PIGQ PIGQ ENSG00000007541 Na frameshift substitution Na Na PIGQ:uc002chp.3:exon1:c.162_163C, Na Het;-G 925;26|24 Het;-G 588;16|15 Hom;-G 1752;0|40 N N - 16 632233 632233 T C snp synonymous SNV T165C A55A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs62030874 0.526358 0 0.5131 1 0 0 intronic exonic intronic PIGQ PIGQ ENSG00000007541 Na synonymous SNV Na Na PIGQ:uc002chp.3:exon1:c.T165C:p.A55A, Na Het;T>C 934;26|25 Het;T>C 597;16|17 Hom;T>C 1761;0|39 N N - 16 632728 632728 T C snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs3743902 0.529153 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;T>C 204;4|5 Het;T>C 44;3|2 Hom;T>C 197;0|5 N N - 16 632736 632736 T C snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs3743903 0.529952 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;T>C 204;5|6 Het;T>C 41;5|2 Hom;T>C 234;0|6 N N - 16 632767 632767 A G snp intronic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs3743904 0.529752 0 0 1 0 0 intronic intronic intronic PIGQ PIGQ ENSG00000007541 Na Na Na Na Na Na Het;A>G 198;8|8 Het;A>G 151;6|6 Hom;A>G 380;0|12 N N - 16 633125 633125 T C snp nonsynonymous SNV T1774C C592R polar,hydrophobic,neutral polar,hydrophilic,charged(+) PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs1045277 0.530751 0.4302 0.4907 0.17 2 12 exonic exonic exonic PIGQ PIGQ ENSG00000007541 nonsynonymous SNV nonsynonymous SNV unknown PIGQ:NM_148920:exon10:c.T1774C:p.C592R, PIGQ:uc002cho.3:exon10:c.T1774C:p.C592R,PIGQ:uc002chp.3:exon2:c.T484C:p.C162R, UNKNOWN Het;T>C 1502;108|70 Het;T>C 1403;73|55 Hom;T>C 3915;0|146 N N - 16 633353 633353 T C snp nonsynonymous SNV T2002C C668R polar,hydrophobic,neutral polar,hydrophilic,charged(+) PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs710924 0.530551 0.4094 0.4911 0.17 2 12 exonic exonic exonic PIGQ PIGQ ENSG00000007541 nonsynonymous SNV nonsynonymous SNV unknown PIGQ:NM_148920:exon10:c.T2002C:p.C668R, PIGQ:uc002cho.3:exon10:c.T2002C:p.C668R,PIGQ:uc002chp.3:exon2:c.T712C:p.C238R,PIGQ:uc010uuj.2:exon1:c.A433G:p.T145A, UNKNOWN Het;T>C 3859;113|101 Het;T>C 3656;87|94 Hom;T>C 7869;0|176 N N - 16 633354 633354 G A snp nonsynonymous SNV G2003A C668Y polar,hydrophobic,neutral aromatic,polar,hydrophobic PIGQ Pigq ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q chr16:616995-634136 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Rate; hypertension Synthesis of glycosylphosphatidylinositol (GPI) GO:0005975;carbohydrate metabolic process;TAS|GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016254;preassembly of GPI anchor in ER membrane;TAS GO:0000506;glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017176;phosphatidylinositol N-acetylglucosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGQ https://www.uniprot.org/uniprot/Q9BRB3 https://www.ncbi.nlm.nih.gov/omim/?term=605754 http://www.informatics.jax.org/searchtool/Search.do?query=PIGQ&submit=Quick%0D%451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGQ rs710925 0.530152 0.4091 0.4909 0.17 2 12 exonic exonic exonic PIGQ PIGQ ENSG00000007541 nonsynonymous SNV nonsynonymous SNV unknown PIGQ:NM_148920:exon10:c.G2003A:p.C668Y, PIGQ:uc002cho.3:exon10:c.G2003A:p.C668Y,PIGQ:uc002chp.3:exon2:c.G713A:p.C238Y, UNKNOWN Het;G>A 3859;111|102 Het;G>A 3656;88|94 Hom;G>A 7869;0|176 N N - 16 6754528 6754528 C T snp ncRNA_intronic AC074051.2 rs8061082 0.351637 0 0 1 0 0 intronic intronic ncRNA_intronic RBFOX1 RBFOX1 ENSG00000260411 Na Na Na Na Na Na Het;C>T 264;5|8 Het;C>T 359;3|14 Hom;C>T 354;0|10 N N - 16 675680 675680 T C snp intronic RAB40C Rab40c ENSG00000197562 RAB40C, member RAS oncogene family chr16:639357-679272 height; Heart Rate; Body Height RAB geranylgeranylation GO:0006904;vesicle docking involved in exocytosis;IBA|GO:0009306;protein secretion;IBA|GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0072659;protein localization to plasma membrane;IBA GO:0005622;intracellular;IEA|GO:0005768;endosome;IBA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB40C http://www.informatics.jax.org/searchtool/Search.do?query=RAB40C&submit=Quick%0D%16657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB40C rs763014 0.546925 0 0 1 0 0 intronic intronic intronic RAB40C RAB40C ENSG00000197562 Na Na Na Na Na Na Het;T>C 94;10|4 Het;T>C 80;3|3 Hom;T>C 221;0|7 N N - 16 677854 677854 G T snp UTR3 *232G>T RAB40C Rab40c ENSG00000197562 RAB40C, member RAS oncogene family chr16:639357-679272 height; Heart Rate; Body Height RAB geranylgeranylation GO:0006904;vesicle docking involved in exocytosis;IBA|GO:0009306;protein secretion;IBA|GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0072659;protein localization to plasma membrane;IBA GO:0005622;intracellular;IEA|GO:0005768;endosome;IBA|GO:0005886;plasma membrane;IEA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB40C http://www.informatics.jax.org/searchtool/Search.do?query=RAB40C&submit=Quick%0D%16657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB40C rs15564 0.539736 0 0 1 0 0 UTR3 UTR3 UTR3 RAB40C(NM_001172663:c.*232G>T,NM_001172664:c.*232G>T,NM_001172665:c.*232G>T,NM_001172666:c.*232G>T,NM_021168:c.*232G>T) RAB40C(uc021szt.1:c.*232G>T,uc021szu.1:c.*232G>T,uc021szv.1:c.*232G>T,uc002chq.3:c.*232G>T,uc002chr.3:c.*232G>T) ENSG00000197562(ENST00000535977:c.*232G>T,ENST00000539661:c.*232G>T,ENST00000538492:c.*232G>T,ENST00000248139:c.*232G>T) Na Na Na Na Na Na Het;G>T 856;38|39 Het;G>T 554;26|27 Hom;G>T 1403;0|52 N N - 16 682442 682442 A C snp UTR3 *2029A>C AK128777 rs2269560 0.536941 0 0 1 0 0 intronic UTR3 intronic WFIKKN1 AK128777(uc002chs.1:c.*2029A>C) ENSG00000127578 Na Na Na Na Na Na Het;A>C 97;3|4 Ref Hom;A>C 133;0|4 N N - 16 68720344 68720344 C T snp ncRNA_exonic HSPE1P5 rs4783664 0.404752 0 0 1 0 0 intronic intronic ncRNA_exonic CDH3 CDH3 ENSG00000261395 Na Na Na Na Na Na Het;C>T 115;3|5 Het;C>T 53;2|4 Hom;C>T 117;0|4 N N - 16 698506 698507 AG A indel ncRNA_exonic AL022341.1 rs57928501 0.642572 0 0 1 0 0 upstream;downstream upstream;downstream ncRNA_exonic WDR90;FAM195A WDR90;FAM195A ENSG00000228201 Na Na Na Na Na Na Het;-G 1259;62|53 Het;-G 1260;46|51 Hom;-G 3240;0|106 N N - 16 698590 698590 A G snp ncRNA_exonic AL022341.1 rs11865670 0.717851 0 0 1 0 0 upstream;downstream upstream;downstream ncRNA_exonic WDR90;FAM195A WDR90;FAM195A ENSG00000228201 Na Na Na Na Na Na Het;A>G 832;40|37 Het;A>G 670;35|31 Hom;A>G 1847;0|65 N N - 16 699456 699456 A G snp intronic WDR90 Wdr90 ENSG00000161996 WD repeat domain 90 chr16:699311-717833 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR90 http://www.informatics.jax.org/searchtool/Search.do?query=WDR90&submit=Quick%0D%10637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR90 rs12934086 0.690296 0.3451 0.6024 1 0 0 intronic intronic intronic WDR90 WDR90 ENSG00000161996 Na Na Na Na Na Na Het;A>G 172;9|9 Het;A>G 247;5|11 Hom;A>G 659;0|24 N N - 16 70531366 70531366 C T snp intronic COG4 Cog4 ENSG00000103051 component of oligomeric golgi complex 4 chr16:70514471-70557468 The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] HIV Infections|[X]Human immunodeficiency virus disease Retrograde transport at the Trans-Golgi-Network GO:0000301;retrograde transport, vesicle recycling within Golgi;IBA|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IMP|GO:0007030;Golgi organization;IMP|GO:0015031;protein transport;IEA|GO:0048213;Golgi vesicle prefusion complex stabilization;IMP GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG4 https://www.uniprot.org/uniprot/Q9H9E3 https://hpo.jax.org/app/browse/search?q=COG4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606976 http://www.informatics.jax.org/searchtool/Search.do?query=COG4&submit=Quick%0D%2960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG4 rs2303792 0.440096 0 0 1 0 0 intronic intronic intronic COG4 COG4 ENSG00000103051 Na Na Na Na Na Na Het;C>T 250;6|9 Het;C>T 249;1|8 Hom;C>T 294;0|10 N N - 16 72011457 72011457 C G snp ncRNA_intronic ENSG00000187008 rs55908226 0 0 0 1 0 0 intronic intronic ncRNA_intronic PKD1L3 PKD1L3 ENSG00000187008 Na Na Na Na Na Na Het;C>G 100;2|4 Ref Hom;C>G 280;0|6 N N - 16 72146570 72146570 T C snp UTR3 *90A>G PMFBP1 Pmfbp1 ENSG00000118557 polyamine modulated factor 1 binding protein 1 chr16:72146056-72210777 Alkaline Phosphatase Male mice homozygous for a null allele are infertile due to acephalic spermatozoa. GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/PMFBP1 https://www.uniprot.org/uniprot/Q8TBY8 https://hpo.jax.org/app/browse/search?q=PMFBP1&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=PMFBP1&submit=Quick%0D%4991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMFBP1 rs6680 0.489018 0 0.4586 1 0 0 UTR3 UTR3 UTR3 DHX38(NM_014003:c.*174T>C) DHX38(uc002fcb.3:c.*174T>C,uc010vmp.2:c.*174T>C) ENSG00000118557(ENST00000537792:c.*90A>G),ENSG00000140829(ENST00000268482:c.*174T>C,ENST00000536867:c.*174T>C,ENST00000579387:c.*1373T>C,ENST00000567142:c.*79T>C) Na Na Na Na Na Na Het;T>C 71;3|3 Ref Hom;T>C 186;0|5 N N - 16 72158950 72158950 T C snp intronic PMFBP1 Pmfbp1 ENSG00000118557 polyamine modulated factor 1 binding protein 1 chr16:72146056-72210777 Alkaline Phosphatase Male mice homozygous for a null allele are infertile due to acephalic spermatozoa. GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/PMFBP1 https://www.uniprot.org/uniprot/Q8TBY8 https://hpo.jax.org/app/browse/search?q=PMFBP1&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=PMFBP1&submit=Quick%0D%4991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMFBP1 rs3812986 0.584864 0 0 1 0 0 intronic intronic intronic PMFBP1 PMFBP1 ENSG00000118557 Na Na Na Na Na Na Het;T>C 211;10|8 Het;T>C 94;11|4 Hom;T>C 153;1|7 N N - 16 732287 732288 GC G indel unknown STUB1 Stub1 ENSG00000103266 STIP1 homology and U-box containing protein 1 chr16:730224-732870 This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014] SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 16 Homozygous null mice develop normally but are susceptible to stress-induced apoptosis of multiple organs. Increased peri- and postnatal lethality. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IMP|GO:0006281;DNA repair;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0006515;misfolded or incompletely synthesized protein catabolic process;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016567;protein ubiquitination;IDA|GO:0030433;ubiquitin-dependent ERAD pathway;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030579;ubiquitin-dependent SMAD protein catabolic process;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0031647;regulation of protein stability;IDA|GO:0031943;regulation of glucocorticoid metabolic process;IDA|GO:0032091;negative regulation of protein binding;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0051443;positive regulation of ubiquitin-protein transferase activity;IEA|GO:0051604;protein maturation;TAS|GO:0051865;protein autoubiquitination;IDA|GO:0070534;protein K63-linked ubiquitination;IDA|GO:0071218;cellular response to misfolded protein;IDA|GO:0090035;positive regulation of chaperone-mediated protein complex assembly;IDA GO:0000151;ubiquitin ligase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS|GO:0030018;Z disc;IEA|GO:0031371;ubiquitin conjugating enzyme complex;TAS|GO:0042405;nuclear inclusion body;IDA|GO:0070062;extracellular exosome;IDA GO:0001664;G-protein coupled receptor binding;IPI|GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;IPI|GO:0030544;Hsp70 protein binding;IPI|GO:0030674;protein binding, bridging;TAS|GO:0030911;TPR domain binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0034450;ubiquitin-ubiquitin ligase activity;ISS|GO:0042803;protein homodimerization activity;IDA|GO:0046332;SMAD binding;IPI|GO:0051787;misfolded protein binding;IDA|GO:0051879;Hsp90 protein binding;IDA|GO:0061630;ubiquitin protein ligase activity;IDA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;IMP http://www.genecards.org/index.php?path=/Search/keyword/STUB1 https://www.uniprot.org/uniprot/Q9UNE7 https://hpo.jax.org/app/browse/search?q=STUB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607207 http://www.informatics.jax.org/searchtool/Search.do?query=STUB1&submit=Quick%0D%2999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STUB1 rs3216838 0.622404 0.4905 0.5158 1 0 0 UTR3 UTR3 exonic JMJD8(NM_001005920:c.*507_*506delinsC) JMJD8(uc002ciw.1:c.*507_*506delinsC,uc002ciy.1:c.*507_*506delinsC) ENSG00000103266 Na Na unknown Na Na UNKNOWN Het;-C 5243;177|171 Het;-C 3879;145|126 Hom;-C 9490;2|259 N N - 16 7433110 7433110 A G snp intronic RBFOX1 Rbfox1 ENSG00000078328 RNA binding protein, fox-1 homolog 1 chr16:6069095-7763340 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1 https://www.uniprot.org/uniprot/Q9NWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605104 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1 rs4627375 0.39976 0 0 1 0 0 intronic intronic intronic RBFOX1 RBFOX1 ENSG00000078328 Na Na Na Na Na Na Het;A>G 1159;49|55 Het;A>G 752;72|40 Hom;A>G 2584;0|93 N N - 16 74451815 74451816 CA C indel intronic CLEC18B Clec18a ENSG00000140839 C-type lectin domain family 18 member B chr16:74442529-74455368 GO:0005576;extracellular region;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016529;sarcoplasmic reticulum;TAS GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLEC18B https://www.uniprot.org/uniprot/Q6UXF7 https://www.ncbi.nlm.nih.gov/omim/?term=616572 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC18B&submit=Quick%0D%8082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC18B rs148521868 0.5 0 0 1 0 0 intronic intronic intronic CLEC18B CLEC18B ENSG00000140839 Na Na Na Na Na Na Het;-A 261;4|15 Het;-A 283;7|17 Hom;-A 445;1|22 N N - 16 766001 766001 T G snp intronic METRN Metrn ENSG00000103260 meteorin, glial cell differentiation regulator chr16:765115-769655 Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010001;glial cell differentiation;IEA|GO:0030154;cell differentiation;IEA|GO:0050772;positive regulation of axonogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/METRN https://www.uniprot.org/uniprot/Q9UJH8 https://www.ncbi.nlm.nih.gov/omim/?term=610998 http://www.informatics.jax.org/searchtool/Search.do?query=METRN&submit=Quick%0D%2997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=METRN rs1076939 0.561701 0.3250 0.5502 1 0 0 intronic intronic intronic METRN METRN ENSG00000103260 Na Na Na Na Na Na Het;T>G 476;39|25 Het;T>G 726;29|34 Hom;T>G 853;3|36 N N - 16 766078 766078 A G snp intronic METRN Metrn ENSG00000103260 meteorin, glial cell differentiation regulator chr16:765115-769655 Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010001;glial cell differentiation;IEA|GO:0030154;cell differentiation;IEA|GO:0050772;positive regulation of axonogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/METRN https://www.uniprot.org/uniprot/Q9UJH8 https://www.ncbi.nlm.nih.gov/omim/?term=610998 http://www.informatics.jax.org/searchtool/Search.do?query=METRN&submit=Quick%0D%2997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=METRN rs66649828 0.516773 0 0 1 0 0 intronic intronic intronic METRN METRN ENSG00000103260 Na Na Na Na Na Na Het;A>G 338;11|12 Het;A>G 331;10|15 Hom;A>G 534;0|18 N N - 16 767426 767426 T TG indel unknown METRN Metrn ENSG00000103260 meteorin, glial cell differentiation regulator chr16:765115-769655 Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010001;glial cell differentiation;IEA|GO:0030154;cell differentiation;IEA|GO:0050772;positive regulation of axonogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/METRN https://www.uniprot.org/uniprot/Q9UJH8 https://www.ncbi.nlm.nih.gov/omim/?term=610998 http://www.informatics.jax.org/searchtool/Search.do?query=METRN&submit=Quick%0D%2997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=METRN rs5815052 0 0.2408 0.3629 1 0 0 UTR3 UTR3 exonic METRN(NM_024042:c.*39T>TG) METRN(uc002cjd.3:c.*39T>TG) ENSG00000103260 Na Na unknown Na Na UNKNOWN Het;+G 291;16|9 Ref Hom;+G 235;0|6 N N - 16 767430 767430 C G snp unknown METRN Metrn ENSG00000103260 meteorin, glial cell differentiation regulator chr16:765115-769655 Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010001;glial cell differentiation;IEA|GO:0030154;cell differentiation;IEA|GO:0050772;positive regulation of axonogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/METRN https://www.uniprot.org/uniprot/Q9UJH8 https://www.ncbi.nlm.nih.gov/omim/?term=610998 http://www.informatics.jax.org/searchtool/Search.do?query=METRN&submit=Quick%0D%2997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=METRN rs10682 0.491414 0 0.5081 1 0 0 UTR3 UTR3 exonic METRN(NM_024042:c.*43C>G) METRN(uc002cjd.3:c.*43C>G) ENSG00000103260 Na Na unknown Na Na UNKNOWN Het;C>G 300;16|9 Ref Hom;C>G 206;0|5 N N - 16 7700005 7700005 G GAGGAGGGAAGGACAGGA indel intronic RBFOX1 Rbfox1 ENSG00000078328 RNA binding protein, fox-1 homolog 1 chr16:6069095-7763340 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1 https://www.uniprot.org/uniprot/Q9NWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605104 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1 rs150696415 0.672524 0 0 1 0 0 intronic intronic intronic RBFOX1 RBFOX1 ENSG00000078328 Na Na Na Na Na Na Het;+AGGAGGGAAGGACAGGA 86;1|3 Ref Hom;+AGGAGGGAAGGACAGGA 167;0|5 N N - 16 77227884 77227884 C G snp UTR5 -233C>G MON1B Mon1b ENSG00000103111 MON1 homolog B, secretory trafficking associated chr16:77224732-77236302 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; high-density lipoprotein cholesterol RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA|GO:0019085;early viral transcription;IDA|GO:0019086;late viral transcription;IDA GO:0005737;cytoplasm;IDA|GO:0012505;endomembrane system;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MON1B https://www.uniprot.org/uniprot/Q7L1V2 https://www.ncbi.nlm.nih.gov/omim/?term=608954 http://www.informatics.jax.org/searchtool/Search.do?query=MON1B&submit=Quick%0D%2968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MON1B rs3743761 0.774561 0 0 1 0 0 intronic UTR5 intronic MON1B MON1B(uc002ffa.3:c.-233C>G) ENSG00000103111 Na Na Na Na Na Na Het;C>G 78;4|3 Ref Hom;C>G 149;0|5 N N - 16 7726725 7726725 C G snp intronic RBFOX1 Rbfox1 ENSG00000078328 RNA binding protein, fox-1 homolog 1 chr16:6069095-7763340 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1 https://www.uniprot.org/uniprot/Q9NWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605104 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1 rs2302214 0.0644968 0.0201 0.0427 1 0 0 intronic intronic intronic RBFOX1 RBFOX1 ENSG00000078328 Na Na Na Na Na Na Het;C>G 973;21|42 Het;C>G 736;37|34 Hom;C>G 1755;0|67 N N - 16 77327211 77327211 T TA indel intronic ADAMTS18 Adamts18 ENSG00000140873 ADAM metallopeptidase with thrombospondin type 1 motif 18 chr16:77281710-77469011 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016] breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. O-glycosylation of TSR domain-containing proteins GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18 https://www.uniprot.org/uniprot/Q8TE60 https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607512 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18 rs67517591 0 0 0 1 0 0 intronic intronic intronic ADAMTS18 ADAMTS18 ENSG00000140873 Na Na Na Na Na Na Het;+A 270;7|14 Het;+A 314;3|17 Hom;+A 643;0|17 N N - 16 77393449 77393449 A C snp intronic ADAMTS18 Adamts18 ENSG00000140873 ADAM metallopeptidase with thrombospondin type 1 motif 18 chr16:77281710-77469011 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016] breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. O-glycosylation of TSR domain-containing proteins GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18 https://www.uniprot.org/uniprot/Q8TE60 https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607512 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18 rs202197230 0 0 0 1 0 0 intronic intronic intronic ADAMTS18 ADAMTS18 ENSG00000140873 Na Na Na Na Na Na Het;A>C 101;12|8 Het;A>C 192;4|7 Hom;A>C 496;0|14 N N - 16 78198192 78198192 T C snp intronic WWOX Wwox ENSG00000186153 WW domain containing oxidoreductase chr16:78133310-79246564 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. Activation of the TFAP2 (AP-2) family of transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/WWOX https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605131 http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX rs2303191 0.789137 0.7435 0.7482 1 0 0 intronic intronic intronic WWOX WWOX ENSG00000186153 Na Na Na Na Na Na Het;T>C 1332;77|63 Het;T>C 1415;66|68 Hom;T>C 3715;1|135 N N - 16 79395615 79395616 TG T indel intergenic WWOX Wwox ENSG00000186153 WW domain containing oxidoreductase chr16:78133310-79246564 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. Activation of the TFAP2 (AP-2) family of transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/WWOX https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605131 http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX rs369071476 0.302316 0 0 1 0 0 intergenic intergenic intergenic WWOX(dist=149051),MAF(dist=232129) WWOX(dist=149051),MAF(dist=232129) ENSG00000222244(dist=97145),ENSG00000261472(dist=143884) Na Na Na Na Na Na Het;-G 167;2|4 Het;-G 77;4|3 Hom;-G 233;0|6 N N - 16 79395617 79395617 G A snp intergenic WWOX Wwox ENSG00000186153 WW domain containing oxidoreductase chr16:78133310-79246564 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. Activation of the TFAP2 (AP-2) family of transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/WWOX https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605131 http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX rs372700487 0.302316 0 0 1 0 0 intergenic intergenic intergenic WWOX(dist=149053),MAF(dist=232128) WWOX(dist=149053),MAF(dist=232128) ENSG00000222244(dist=97147),ENSG00000261472(dist=143883) Na Na Na Na Na Na Het;G>A 176;2|5 Het;G>A 86;4|3 Hom;G>A 242;0|6 N N - 16 79395619 79395619 C A snp intergenic WWOX Wwox ENSG00000186153 WW domain containing oxidoreductase chr16:78133310-79246564 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. Activation of the TFAP2 (AP-2) family of transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/WWOX https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605131 http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX rs375908244 0.301717 0 0 1 0 0 intergenic intergenic intergenic WWOX(dist=149055),MAF(dist=232126) WWOX(dist=149055),MAF(dist=232126) ENSG00000222244(dist=97149),ENSG00000261472(dist=143881) Na Na Na Na Na Na Het;C>A 218;2|5 Het;C>A 86;4|3 Hom;C>A 287;0|6 N N - 16 79395620 79395620 T TAAAC indel intergenic WWOX Wwox ENSG00000186153 WW domain containing oxidoreductase chr16:78133310-79246564 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Weight; Blood Flow Velocity; longevity; Tobacco Use Disorder; Blood Pressure; Body Height; Response to radiation; smoking cessation; ovarian cancer; Diabetes Mellitus; Cardiac structure and function; Bipolar Disorder; Hemoglobin A, Glycosylated; Chronic renal failure|Kidney Failure, Chronic; Hypertrophy, Left Ventricular; Tunica Media; Insulin; Respiratory Function Tests; Cholesterol; Cardiovascular Diseases; high-density lipoprotein cholesterol ; Intuition; Myocardial Infarction; C-Reactive Protein; Coronary Artery Disease; Aorta; Schizophrenia; Coronary Disease; Cholesterol, HDL; Body Mass Index; Obesity Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. Activation of the TFAP2 (AP-2) family of transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0001649;osteoblast differentiation;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0008202;steroid metabolic process;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0046983;protein dimerization activity;TAS|GO:0048037;cofactor binding;TAS|GO:0050662;coenzyme binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/WWOX https://hpo.jax.org/app/browse/search?q=WWOX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605131 http://www.informatics.jax.org/searchtool/Search.do?query=WWOX&submit=Quick%0D%15582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WWOX rs200176183 0.302316 0 0 1 0 0 intergenic intergenic intergenic WWOX(dist=149056),MAF(dist=232125) WWOX(dist=149056),MAF(dist=232125) ENSG00000222244(dist=97150),ENSG00000261472(dist=143880) Na Na Na Na Na Na Het;+AAAC 209;2|5 Het;+AAAC 77;4|3 Hom;+AAAC 278;0|6 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 80191464 80191464 A G snp ncRNA_intronic LOC102724084 rs12102687 0.241414 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102724084 MAF(dist=556842),DYNLRB2(dist=383390) ENSG00000259867,ENSG00000260706 Na Na Na Na Na Na Het;A>G 432;21|19 Het;A>G 373;11|15 Hom;A>G 580;0|20 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 80191694 80191694 G A snp ncRNA_intronic LOC102724084 rs12103210 0.231829 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102724084 MAF(dist=557072),DYNLRB2(dist=383160) ENSG00000259867,ENSG00000260706 Na Na Na Na Na Na Het;G>A 231;10|8 Het;G>A 70;3|3 Hom;G>A 196;0|6 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 80968283 80968283 T C snp intergenic CDYL2 Cdyl2 ENSG00000166446 chromodomain Y like 2 chr16:80631803-80838226 high-density lipoprotein cholesterol ; Erythrocyte Count; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Hemoglobins; Tobacco Use Disorder GO:0008152;metabolic process;IEA GO:0005634;nucleus;IEA GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDYL2 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL2&submit=Quick%0D%11794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL2 rs78216383 0.139776 0 0 1 0 0 intergenic intergenic intergenic CDYL2(dist=130108),CMC2(dist=41416) AK093002(dist=41790),CMC2(dist=41416) ENSG00000260896(dist=41791),ENSG00000103121(dist=41416) Na Na Na Na Na Na Het;T>C 433;43|25 Het;T>C 232;48|16 Hom;T>C 1588;0|58 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81010137 81010137 G C snp intronic CMC2 Cmc2 ENSG00000103121 C-X9-C motif containing 2 chr16:81009698-81053875 smoking cessation; high-density lipoprotein cholesterol Mitochondrial protein import GO:0005739;mitochondrion;IDA http://www.genecards.org/index.php?path=/Search/keyword/CMC2 https://www.uniprot.org/uniprot/Q9NRP2 http://www.informatics.jax.org/searchtool/Search.do?query=CMC2&submit=Quick%0D%2969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMC2 rs2303215 0.0986422 0 0 1 0 0 intronic intronic intronic CMC2 CMC2 ENSG00000103121 Na Na Na Na Na Na Het;G>C 434;22|17 Het;G>C 458;17|21 Hom;G>C 899;0|34 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81010170 81010170 T C snp intronic CMC2 Cmc2 ENSG00000103121 C-X9-C motif containing 2 chr16:81009698-81053875 smoking cessation; high-density lipoprotein cholesterol Mitochondrial protein import GO:0005739;mitochondrion;IDA http://www.genecards.org/index.php?path=/Search/keyword/CMC2 https://www.uniprot.org/uniprot/Q9NRP2 http://www.informatics.jax.org/searchtool/Search.do?query=CMC2&submit=Quick%0D%2969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMC2 rs2303216 0.0992412 0 0 1 0 0 intronic intronic intronic CMC2 CMC2 ENSG00000103121 Na Na Na Na Na Na Het;T>C 77;14|5 Het;T>C 179;6|7 Hom;T>C 445;0|15 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81015560 81015560 C T snp intronic CMC2 Cmc2 ENSG00000103121 C-X9-C motif containing 2 chr16:81009698-81053875 smoking cessation; high-density lipoprotein cholesterol Mitochondrial protein import GO:0005739;mitochondrion;IDA http://www.genecards.org/index.php?path=/Search/keyword/CMC2 https://www.uniprot.org/uniprot/Q9NRP2 http://www.informatics.jax.org/searchtool/Search.do?query=CMC2&submit=Quick%0D%2969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMC2 rs2549822 0.77516 0 0 1 0 0 intronic intronic intronic CMC2 CMC2 ENSG00000103121 Na Na Na Na Na Na Het;C>T 70;23|6 Het;C>T 211;6|10 Hom;C>T 673;0|22 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81045474 81045474 A G snp intronic CENPN Cenpn ENSG00000166451 centromere protein N chr16:81040103-81066719 The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] smoking cessation Mitotic Prometaphase GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS http://www.genecards.org/index.php?path=/Search/keyword/CENPN https://www.ncbi.nlm.nih.gov/omim/?term=611509 http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN rs543064045 0.00479233 0 0 1 0 0 intronic intronic intronic CENPN CENPN ENSG00000103121,ENSG00000166451 Na Na Na Na Na Na Het;A>G 297;9|12 Het;A>G 239;7|8 Hom;A>G 546;0|16 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81056441 81056441 T G snp stoploss T613G X205E polar,hydrophilic,charged(-) CENPN Cenpn ENSG00000166451 centromere protein N chr16:81040103-81066719 The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] smoking cessation Mitotic Prometaphase GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS http://www.genecards.org/index.php?path=/Search/keyword/CENPN https://www.ncbi.nlm.nih.gov/omim/?term=611509 http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN rs3743503 0.132588 0.0998 0.1412 0.25 1 4 exonic exonic exonic CENPN CENPN ENSG00000166451 stoploss stoploss unknown CENPN:NM_018455:exon7:c.T613G:p.X205E, CENPN:uc002ffw.4:exon7:c.T613G:p.X205E, UNKNOWN Het;T>G 1755;64|73 Het;T>G 1219;52|54 Hom;T>G 3716;0|138 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81066339 81066339 T G snp UTR3 *40T>G CENPN Cenpn ENSG00000166451 centromere protein N chr16:81040103-81066719 The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] smoking cessation Mitotic Prometaphase GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS http://www.genecards.org/index.php?path=/Search/keyword/CENPN https://www.ncbi.nlm.nih.gov/omim/?term=611509 http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN rs77874075 0.113618 0.0689 0.1053 1 0 0 UTR3 UTR3 ncRNA_intronic CENPN(NM_001100625:c.*40T>G) CENPN(uc002ffy.4:c.*40T>G) ENSG00000260213 Na Na Na Na Na Na Het;T>G 452;10|17 Het;T>G 410;16|16 Hom;T>G 637;0|22 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81077873 81077873 A G snp synonymous SNV A1302G L434L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ATMIN Atmin ENSG00000166454 ATM interactor chr16:81069452-81080963 smoking cessation; high-density lipoprotein cholesterol Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0044458;motile cilium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1902857;positive regulation of non-motile cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0016604;nuclear body;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATMIN https://www.ncbi.nlm.nih.gov/omim/?term=614693 http://www.informatics.jax.org/searchtool/Search.do?query=ATMIN&submit=Quick%0D%11799ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATMIN rs201370892 0.00459265 7.7e-05 0.0036 1 0 0 exonic exonic exonic ATMIN ATMIN ENSG00000166454 synonymous SNV synonymous SNV unknown ATMIN:NM_001300728:exon4:c.A1302G:p.L434L,ATMIN:NM_015251:exon4:c.A1770G:p.L590L, ATMIN:uc002fga.2:exon4:c.A1296G:p.L432L,ATMIN:uc010vnn.1:exon3:c.A1083G:p.L361L,ATMIN:uc002ffz.1:exon4:c.A1770G:p.L590L,ATMIN:uc002fgb.1:exon3:c.A1296G:p.L432L, UNKNOWN Het;A>G 2107;93|86 Het;A>G 1856;62|75 Hom;A>G 4149;2|149 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81094951 81094951 A G snp nonsynonymous SNV T1003C Y335H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) C16orf46 1700030J22Rik ENSG00000166455 chromosome 16 open reading frame 46 chr16:81087102-81110872 Attention deficit hyperactivity disorder and conduct disorder; smoking cessation; Tobacco Use Disorder; Body Weights and Measures GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA http://www.genecards.org/index.php?path=/Search/keyword/C16orf46 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf46&submit=Quick%0D%11800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf46 rs10459872 0.104633 0.0654 0.1022 0.08 1 13 exonic exonic exonic C16orf46 C16orf46 ENSG00000166455 nonsynonymous SNV nonsynonymous SNV unknown C16orf46:NM_152337:exon4:c.T1003C:p.Y335H,C16orf46:NM_001100873:exon3:c.T1003C:p.Y335H, C16orf46:uc010chf.3:exon3:c.T1003C:p.Y335H,C16orf46:uc002fgc.4:exon4:c.T1003C:p.Y335H, UNKNOWN Het;A>G 1256;64|52 Het;A>G 2131;66|90 Hom;A>G 3965;0|130 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81095099 81095099 C G snp synonymous SNV G855C A285A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C16orf46 1700030J22Rik ENSG00000166455 chromosome 16 open reading frame 46 chr16:81087102-81110872 Attention deficit hyperactivity disorder and conduct disorder; smoking cessation; Tobacco Use Disorder; Body Weights and Measures GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA http://www.genecards.org/index.php?path=/Search/keyword/C16orf46 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf46&submit=Quick%0D%11800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf46 rs2287995 0.108027 0.0674 0.1034 1 0 0 exonic exonic exonic C16orf46 C16orf46 ENSG00000166455 synonymous SNV synonymous SNV unknown C16orf46:NM_152337:exon4:c.G855C:p.A285A,C16orf46:NM_001100873:exon3:c.G855C:p.A285A, C16orf46:uc010chf.3:exon3:c.G855C:p.A285A,C16orf46:uc002fgc.4:exon4:c.G855C:p.A285A, UNKNOWN Het;C>G 2549;99|109 Het;C>G 2519;105|111 Hom;C>G 5905;4|218 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81115538 81115540 CAG C indel downstream GCSH Gcsh ENSG00000140905 glycine cleavage system protein H chr16:81115566-81130008 Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010] Body Weights and Measures; smoking cessation; high-density lipoprotein cholesterol ; hyperglycinemia, nonketotic; Chronic renal failure|Kidney Failure, Chronic Glycine degradation GO:0006546;glycine catabolic process;TAS|GO:0009249;protein lipoylation;IDA|GO:0019464;glycine decarboxylation via glycine cleavage system;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005960;glycine cleavage complex;TAS GO:0004047;aminomethyltransferase activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCSH https://www.uniprot.org/uniprot/P23434 https://hpo.jax.org/app/browse/search?q=GCSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=238330 http://www.informatics.jax.org/searchtool/Search.do?query=GCSH&submit=Quick%0D%8088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCSH rs530762215 0.00738818 0 0.0294 1 0 0 downstream downstream ncRNA_intronic GCSH GCSH ENSG00000260643 Na Na Na Na Na Na Het;-AG 1196;37|32 Het;-AG 812;25|22 Hom;-AG 3068;0|69 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81150938 81150938 G C snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs6564824 0.217053 0.1279 0.1410 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;G>C 912;39|34 Het;G>C 995;49|42 Hom;G>C 1507;0|45 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81151177 81151177 C T snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs76667668 0.115016 0.0291 0.0916 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;C>T 1376;77|62 Het;C>T 1327;72|60 Hom;C>T 4429;1|165 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81174785 81174785 T C snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs74030549 0.0970447 0 0 1 0 0 intronic intergenic intronic PKD1L2 PKD1L2(dist=4808),NONE(dist=NONE) ENSG00000166473 Na Na Na Na Na Na Het;T>C 201;4|7 Het;T>C 46;2|2 Hom;T>C 143;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81174978 81174978 A G snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs117006360 0.0972444 0.0492 0.1228 1 0 0 exonic intergenic exonic PKD1L2 PKD1L2(dist=5001),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;A>G 946;40|37 Ref Hom;A>G 2379;0|85 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81174992 81174992 G T snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs117414860 0.096845 0.0497 0.1235 0.20 1 5 exonic intergenic exonic PKD1L2 PKD1L2(dist=5015),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;G>T 1681;41|45 Het;G>T 397;66|15 Hom;G>T 4590;0|104 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81174999 81174999 A G snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs76162903 0.0982428 0.0520 0.1262 0.40 2 5 exonic intergenic exonic PKD1L2 PKD1L2(dist=5022),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;A>G 1811;46|49 Het;A>G 422;65|16 Hom;A>G 4639;0|105 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81181992 81181992 G T snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs76592400 0.0389377 0.0102 0.0260 1 0 0 intronic intergenic intronic PKD1L2 PKD1L2(dist=12015),NONE(dist=NONE) ENSG00000166473 Na Na Na Na Na Na Het;G>T 564;25|24 Het;G>T 553;22|23 Hom;G>T 975;0|37 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81187568 81187568 C T snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs80290894 0.0385383 0.0187 0.0317 1 0 0 exonic intergenic exonic PKD1L2 PKD1L2(dist=17591),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;C>T 753;16|19 Het;C>T 671;17|18 Hom;C>T 1381;0|32 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81187571 81187571 T A snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs75933530 0.0385383 0.0176 0.0316 1 0 0 exonic intergenic exonic PKD1L2 PKD1L2(dist=17594),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;T>A 751;17|20 Het;T>A 702;19|19 Hom;T>A 1415;0|32 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81187634 81187634 G C snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs79356128 0.0385383 0.0135 0.0539 1 0 0 exonic intergenic exonic PKD1L2 PKD1L2(dist=17657),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;G>C 1721;40|44 Het;G>C 1085;40|30 Hom;G>C 3902;2|89 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81187635 81187635 G T snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs76033196 0.0385383 0.0135 0.0536 1.00 5 5 exonic intergenic exonic PKD1L2 PKD1L2(dist=17658),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;G>T 1721;40|45 Het;G>T 1085;42|29 Hom;G>T 3902;2|89 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81187709 81187709 T A snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs77318108 0.0385383 0.0192 0.0305 0.00 0 5 exonic intergenic exonic PKD1L2 PKD1L2(dist=17732),NONE(dist=NONE) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;T>A 1262;75|57 Het;T>A 1189;56|54 Hom;T>A 3464;2|133 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81194528 81194528 C T snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs11647564 0.105631 0.1786 0.1973 1 0 0 intronic intergenic intronic PKD1L2 NONE(dist=NONE),PKD1L2(dist=9367) ENSG00000166473 Na Na Na Na Na Na Het;C>T 1014;39|42 Het;C>T 980;44|44 Hom;C>T 2121;0|76 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81197467 81197467 C A snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs10153089 0.102436 0 0 1 0 0 intronic intergenic intronic PKD1L2 NONE(dist=NONE),PKD1L2(dist=6428) ENSG00000166473 Na Na Na Na Na Na Het;C>A 239;8|9 Het;C>A 205;5|7 Hom;C>A 224;0|8 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81201620 81201620 C A snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs35292101 0.280751 0.3538 0.4385 0.00 0 5 exonic intergenic exonic PKD1L2 NONE(dist=NONE),PKD1L2(dist=2275) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;C>A 2439;66|63 Het;C>A 2072;65|55 Hom;C>A 5583;0|128 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81201625 81201625 G A snp unknown PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs34504526 0.28135 0.3530 0.4319 0.00 0 5 exonic intergenic exonic PKD1L2 NONE(dist=NONE),PKD1L2(dist=2270) ENSG00000166473 unknown Na unknown UNKNOWN Na UNKNOWN Het;G>A 2417;62|63 Het;G>A 2110;62|56 Hom;G>A 5524;0|119 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81201774 81201774 C G snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs34172014 0.28095 0 0 1 0 0 intronic intergenic intronic PKD1L2 NONE(dist=NONE),PKD1L2(dist=2121) ENSG00000166473 Na Na Na Na Na Na Het;C>G 231;5|11 Het;C>G 282;5|10 Hom;C>G 493;0|16 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81204423 81204423 T C snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs11640279 0.284744 0.3530 0.3817 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;T>C 558;35|27 Het;T>C 530;35|24 Hom;T>C 1489;2|57 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81208512 81208512 A C snp nonsynonymous SNV T2591G L864R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs199798228 0.00219649 0.0004 0.0027 0.09 1 11 exonic exonic exonic PKD1L2 PKD1L2 ENSG00000166473 nonsynonymous SNV nonsynonymous SNV unknown PKD1L2:NM_001278423:exon5:c.T536G:p.L179R,PKD1L2:NM_001076780:exon16:c.T2591G:p.L864R, PKD1L2:uc002fgj.3:exon16:c.T2591G:p.L864R,PKD1L2:uc002fgl.1:exon4:c.T359G:p.L120R,PKD1L2:uc002fgi.3:exon5:c.T536G:p.L179R,PKD1L2:uc002fgk.1:exon3:c.T17G:p.L6R, UNKNOWN Het;A>C 777;21|32 Het;A>C 436;24|22 Hom;A>C 1324;4|53 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81213142 81213142 C T snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs4889260 0.714856 0 0 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;C>T 159;7|8 Het;C>T 156;6|6 Hom;C>T 355;0|11 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81213378 81213378 A G snp nonsynonymous SNV T2132C L711P aliphatic,hydrophobic,neutral hydrophobic,neutral PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs4889261 0.80012 0.8006 0.8196 0.27 3 11 exonic exonic exonic PKD1L2 PKD1L2 ENSG00000166473 nonsynonymous SNV nonsynonymous SNV unknown PKD1L2:NM_001278423:exon2:c.T77C:p.L26P,PKD1L2:NM_001076780:exon13:c.T2132C:p.L711P, PKD1L2:uc002fgj.3:exon13:c.T2132C:p.L711P,PKD1L2:uc002fgl.1:exon2:c.T77C:p.L26P,PKD1L2:uc002fgi.3:exon2:c.T77C:p.L26P, UNKNOWN Het;A>G 687;48|34 Het;A>G 441;49|27 Hom;A>G 2401;0|88 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81213422 81213422 C T snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs4889262 0.778355 0.7820 0.8132 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;C>T 577;38|27 Het;C>T 257;36|14 Hom;C>T 1856;0|66 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81213593 81213593 G A snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs4889264 0.798722 0 0 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;G>A 35;4|2 Het;G>A 90;1|4 Hom;G>A 105;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81219052 81219052 G A snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs62052362 0.0405351 0.0406 0.0543 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;G>A 227;11|8 Het;G>A 170;14|8 Hom;G>A 647;0|23 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81219352 81219352 G A snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs62052363 0.0333466 0.0369 0.0427 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;G>A 143;7|5 Het;G>A 197;4|7 Hom;G>A 152;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81222447 81222448 CA C indel intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs10714779 0.688698 0 0.1892 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;-A 259;16|23 Het;-A 233;15|22 Hom;-A 476;6|26 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81222672 81222672 T C snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs4889271 0.707069 0 0 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;T>C 627;46|27 Het;T>C 311;16|17 Hom;T>C 1567;0|51 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81224234 81224234 T C snp intronic PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs12716909 0.735224 0.7448 0.7991 1 0 0 intronic intronic intronic PKD1L2 PKD1L2 ENSG00000166473 Na Na Na Na Na Na Het;T>C 993;47|43 Het;T>C 877;49|37 Hom;T>C 3097;0|110 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81314496 81314496 C T snp nonsynonymous SNV C929T A310V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BCMO1 rs7501331 0.152157 0.1716 0.2125 0.38 5 13 exonic exonic exonic BCO1 BCMO1 ENSG00000135697 nonsynonymous SNV nonsynonymous SNV unknown BCO1:NM_017429:exon8:c.C1136T:p.A379V, BCMO1:uc010vnp.1:exon7:c.C929T:p.A310V,BCMO1:uc002fgn.1:exon8:c.C1136T:p.A379V, UNKNOWN Het;C>T 710;89|38 Het;C>T 745;78|42 Hom;C>T 3062;0|116 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81397238 81397238 T C snp intronic GAN Gan ENSG00000261609 gigaxonin chr16:81348557-81424489 This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008] Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype. Antigen processing: Ubiquitination & Proteasome degradation GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GAN https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605379 http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN rs9933250 0.370807 0 0 1 0 0 intronic intronic intronic GAN GAN ENSG00000261609 Na Na Na Na Na Na Het;T>C 121;1|4 Het;T>C 46;2|2 Hom;T>C 229;0|6 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81604251 81604251 T C snp intronic CMIP Cmip ENSG00000153815 c-Maf inducing protein chr16:81478775-81745367 This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Myocardial Infarction; Diabetes Mellitus, Type 2; Tunica Media; Adiponectin; Body Height; Cholesterol, HDL; Metabolism GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CMIP https://www.uniprot.org/uniprot/Q8IY22 https://www.ncbi.nlm.nih.gov/omim/?term=610112 http://www.informatics.jax.org/searchtool/Search.do?query=CMIP&submit=Quick%0D%9689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMIP rs4889341 0.44389 0 0 1 0 0 intronic intronic intronic CMIP CMIP ENSG00000153815 Na Na Na Na Na Na Het;T>C 392;13|9 Het;T>C 234;11|6 Hom;T>C 980;0|21 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81604256 81604256 T C snp intronic CMIP Cmip ENSG00000153815 c-Maf inducing protein chr16:81478775-81745367 This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Myocardial Infarction; Diabetes Mellitus, Type 2; Tunica Media; Adiponectin; Body Height; Cholesterol, HDL; Metabolism GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CMIP https://www.uniprot.org/uniprot/Q8IY22 https://www.ncbi.nlm.nih.gov/omim/?term=610112 http://www.informatics.jax.org/searchtool/Search.do?query=CMIP&submit=Quick%0D%9689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMIP rs4888156 0.603235 0 0 1 0 0 intronic intronic intronic CMIP CMIP ENSG00000153815 Na Na Na Na Na Na Het;T>C 386;17|13 Het;T>C 228;13|8 Hom;T>C 1015;0|24 N N - 16 8160554 8160554 C T snp intergenic RBFOX1 Rbfox1 ENSG00000078328 RNA binding protein, fox-1 homolog 1 chr16:6069095-7763340 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1 https://www.uniprot.org/uniprot/Q9NWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605104 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1 rs4786212 0.347244 0 0 1 0 0 intergenic intergenic intergenic RBFOX1(dist=397214),NONE(dist=NONE) RBFOX1(dist=397214),TMEM114(dist=458948) ENSG00000222109(dist=211121),ENSG00000260003(dist=165711) Na Na Na Na Na Na Het;C>T 365;11|15 Het;C>T 130;12|7 Hom;C>T 910;0|31 N N - 16 8160724 8160724 G C snp intergenic RBFOX1 Rbfox1 ENSG00000078328 RNA binding protein, fox-1 homolog 1 chr16:6069095-7763340 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1 https://www.uniprot.org/uniprot/Q9NWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605104 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1 rs7189314 0.35024 0 0 1 0 0 intergenic intergenic intergenic RBFOX1(dist=397384),NONE(dist=NONE) RBFOX1(dist=397384),TMEM114(dist=458778) ENSG00000222109(dist=211291),ENSG00000260003(dist=165541) Na Na Na Na Na Na Het;G>C 194;14|8 Het;G>C 102;10|6 Hom;G>C 694;0|24 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81699087 81699087 T C snp ncRNA_exonic LOC100129617 rs3935338 0.665335 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC100129617 LOC100129617 ENSG00000153815 Na Na Na Na Na Na Het;T>C 2212;111|102 Het;T>C 1586;114|81 Hom;T>C 5888;0|217 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81699207 81699207 G C snp ncRNA_exonic LOC100129617 rs4889359 0.659145 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC100129617 LOC100129617 ENSG00000153815 Na Na Na Na Na Na Het;G>C 1470;79|61 Het;G>C 1418;68|63 Hom;G>C 4278;0|136 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81699963 81699963 C T snp ncRNA_exonic LOC100129617 rs4889360 0.650359 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC100129617 LOC100129617 ENSG00000153815 Na Na Na Na Na Na Het;C>T 2028;94|90 Het;C>T 1437;115|73 Hom;C>T 3981;0|145 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81700305 81700305 C T snp ncRNA_exonic LOC100129617 rs4539589 0.114217 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC100129617 LOC100129617 ENSG00000153815 Na Na Na Na Na Na Het;C>T 1669;72|72 Het;C>T 1171;90|62 Hom;C>T 3490;1|130 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81887903 81887903 A G snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4072831 0.212061 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;A>G 58;8|3 Het;A>G 69;4|3 Hom;A>G 132;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81887938 81887938 T C snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4522412 0.211661 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;T>C 208;9|7 Het;T>C 250;9|10 Hom;T>C 296;0|8 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81887957 81887957 A C snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4072830 0.237819 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;A>C 266;14|10 Het;A>C 309;8|11 Hom;A>C 498;0|14 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81888152 81888152 A G snp synonymous SNV A297G L99L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs1143686 0.212061 0.2557 0.2752 1 0 0 exonic exonic exonic PLCG2 PLCG2 ENSG00000197943 synonymous SNV synonymous SNV unknown PLCG2:NM_002661:exon3:c.A297G:p.L99L, PLCG2:uc010chg.1:exon2:c.A297G:p.L99L,PLCG2:uc002fgt.3:exon3:c.A297G:p.L99L, UNKNOWN Het;A>G 1452;77|67 Het;A>G 1869;70|84 Hom;A>G 4065;2|152 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81888237 81888237 G C snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4072828 0.209265 0.2542 0.2749 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;G>C 540;30|23 Het;G>C 890;34|35 Hom;G>C 1554;2|51 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81892895 81892895 C T snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs41309272 0.134984 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;C>T 593;18|19 Het;C>T 436;6|14 Hom;C>T 587;0|16 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81902797 81902797 A G snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs12445580 0.512979 0.5531 0.5921 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;A>G 897;29|38 Het;A>G 827;31|33 Hom;A>G 2554;0|95 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81902990 81902990 G A snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4889419 0.209265 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;G>A 341;10|13 Het;G>A 249;7|10 Hom;G>A 524;0|18 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81903055 81903055 G A snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4889420 0.511981 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;G>A 187;3|6 Het;G>A 126;2|5 Hom;G>A 139;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81904374 81904374 A AT indel intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs146168517 0.510583 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;+T 266;11|8 Het;+T 140;11|5 Hom;+T 448;0|11 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81904375 81904375 C A snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs35039495 0.510583 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;C>A 275;11|8 Het;C>A 149;11|5 Hom;C>A 457;0|11 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81904433 81904434 TG T indel intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs34761601 0.511581 0 0.5919 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;-G 826;22|27 Het;-G 473;25|17 Hom;-G 1311;0|36 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81904674 81904674 T C snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs7192509 0.51258 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;T>C 63;4|3 Ref Hom;T>C 118;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81919097 81919097 C G snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs7186962 0.236821 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;C>G 87;1|4 Ref Hom;C>G 71;0|4 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 81927217 81927217 G C snp intronic PLCG2 Plcg2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 rs4889430 0.13099 0 0 1 0 0 intronic intronic intronic PLCG2 PLCG2 ENSG00000197943 Na Na Na Na Na Na Het;G>C 320;11|11 Het;G>C 257;12|9 Hom;G>C 607;1|18 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 82033810 82033810 G A snp stopgain C88T Q30X polar,hydrophilic,neutral SDR42E1 Sdr42e1 ENSG00000184860 short chain dehydrogenase/reductase family 42E, member 1 chr16:82031221-82045093 GO:0006694;steroid biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDR42E1 https://www.ncbi.nlm.nih.gov/omim/?term=616164 http://www.informatics.jax.org/searchtool/Search.do?query=SDR42E1&submit=Quick%0D%15284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDR42E1 rs11542462 0.0728834 0.0920 0.1059 0.80 4 5 exonic exonic exonic SDR42E1 SDR42E1 ENSG00000184860 stopgain stopgain unknown SDR42E1:NM_145168:exon3:c.C88T:p.Q30X, SDR42E1:uc002fgu.3:exon3:c.C88T:p.Q30X, UNKNOWN Het;G>A 917;55|37 Het;G>A 981;41|47 Hom;G>A 2360;0|79 N N - 16 8210636 8210636 G A snp intergenic RBFOX1 Rbfox1 ENSG00000078328 RNA binding protein, fox-1 homolog 1 chr16:6069095-7763340 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Phosphatidylcholines; response to antipsychotic therapy (extrapyramidal side effects); Calcium-Binding Proteins; lung cancer ; Arteries; Apolipoproteins B; Nonalcoholic Fatty Liver Disease; Tobacco Use Disorder; serum metabolites; Leukocyte Count; Alzheimer Disease; Uric Acid; ADHD | attention-deficit hyperactivity disorder; Respiratory Function Tests; Body Height; Dengue Hemorrhagic Fever; Socioeconomic Factors; Inflammatory Bowel Diseases; Creatinine; Bipolar Disorder; Attention deficit hyperactivity disorder and conduct disorder; Neoplasms; Erythrocytes; Attention Deficit Disorder with Hyperactivity; smoking cessation; Eosinophils; Atrial Fibrillation; Conduct Disorder; Coronary Artery Disease; Osteoarthritis; Lipoproteins, VLDL; Hemoglobins; Conduct disorder (interaction); Cholesterol, LDL; Monocytes; Amyotrophic Lateral Sclerosis; Coronary Disease Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IBA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA|GO:0050658;RNA transport;NAS|GO:0050885;neuromuscular process controlling balance;IEA|GO:2001014;regulation of skeletal muscle cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005802;trans-Golgi network;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFOX1 https://www.uniprot.org/uniprot/Q9NWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605104 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX1&submit=Quick%0D%1658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX1 rs9940049 0.670927 0 0 1 0 0 intergenic intergenic intergenic RBFOX1(dist=447296),NONE(dist=NONE) RBFOX1(dist=447296),TMEM114(dist=408866) ENSG00000222109(dist=261203),ENSG00000260003(dist=115629) Na Na Na Na Na Na Het;G>A 616;33|29 Het;G>A 578;18|26 Hom;G>A 869;2|36 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 82156471 82156471 C G snp ncRNA_intronic AC092142.1 rs9933837 0.744808 0 0 1 0 0 intergenic intergenic ncRNA_intronic HSD17B2(dist=24332),MPHOSPH6(dist=25296) HSD17B2(dist=24332),MPHOSPH6(dist=25296) ENSG00000261235 Na Na Na Na Na Na Het;C>G 145;11|7 Het;C>G 204;7|9 Hom;C>G 237;0|8 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 82156497 82156497 A G snp ncRNA_intronic AC092142.1 rs9923976 0.680511 0 0 1 0 0 intergenic intergenic ncRNA_intronic HSD17B2(dist=24358),MPHOSPH6(dist=25270) HSD17B2(dist=24358),MPHOSPH6(dist=25270) ENSG00000261235 Na Na Na Na Na Na Het;A>G 217;17|12 Het;A>G 267;10|10 Hom;A>G 310;0|13 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 82197883 82197883 G A snp intronic MPHOSPH6 Mphosph6 ENSG00000135698 M-phase phosphoprotein 6 chr16:82181403-82203831 Tobacco Use Disorder; Lipoproteins, VLDL; Hypertension; Creatinine; Adiponectin; Magnesium; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Psychomotor Performance; Benzodiazepines; Alzheimer Disease; fibrin fragment D; Bone Density Major pathway of rRNA processing in the nucleolus and cytosol GO:0000460;maturation of 5.8S rRNA;IMP|GO:0006364;rRNA processing;TAS GO:0000176;nuclear exosome (RNase complex);TAS|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPHOSPH6 https://www.uniprot.org/uniprot/Q99547 https://www.ncbi.nlm.nih.gov/omim/?term=605500 http://www.informatics.jax.org/searchtool/Search.do?query=MPHOSPH6&submit=Quick%0D%7204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPHOSPH6 rs2303266 0.354633 0 0 1 0 0 intronic intronic intronic MPHOSPH6 MPHOSPH6 ENSG00000135698 Na Na Na Na Na Na Het;G>A 70;2|3 Ref Hom;G>A 240;0|7 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 82203786 82203786 C G snp UTR5 -5990G>C MPHOSPH6 Mphosph6 ENSG00000135698 M-phase phosphoprotein 6 chr16:82181403-82203831 Tobacco Use Disorder; Lipoproteins, VLDL; Hypertension; Creatinine; Adiponectin; Magnesium; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Psychomotor Performance; Benzodiazepines; Alzheimer Disease; fibrin fragment D; Bone Density Major pathway of rRNA processing in the nucleolus and cytosol GO:0000460;maturation of 5.8S rRNA;IMP|GO:0006364;rRNA processing;TAS GO:0000176;nuclear exosome (RNase complex);TAS|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPHOSPH6 https://www.uniprot.org/uniprot/Q99547 https://www.ncbi.nlm.nih.gov/omim/?term=605500 http://www.informatics.jax.org/searchtool/Search.do?query=MPHOSPH6&submit=Quick%0D%7204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPHOSPH6 rs2303260 0.23143 0.3355 0.3420 1 0 0 UTR5 UTR5 UTR5 MPHOSPH6(NM_005792:c.-6G>C) MPHOSPH6(uc002fgw.3:c.-6G>C) ENSG00000135698(ENST00000563100:c.-5990G>C,ENST00000258169:c.-6G>C,ENST00000563504:c.-5990G>C,ENST00000568016:c.-6G>C,ENST00000569021:c.-6G>C) Na Na Na Na Na Na Het;C>G 260;18|15 Het;C>G 582;17|25 Hom;C>G 1212;0|28 16_101.974_110.974 Chr16:79461830-82833302 0.225 16 82253837 82253837 T C snp intergenic MPHOSPH6 Mphosph6 ENSG00000135698 M-phase phosphoprotein 6 chr16:82181403-82203831 Tobacco Use Disorder; Lipoproteins, VLDL; Hypertension; Creatinine; Adiponectin; Magnesium; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Psychomotor Performance; Benzodiazepines; Alzheimer Disease; fibrin fragment D; Bone Density Major pathway of rRNA processing in the nucleolus and cytosol GO:0000460;maturation of 5.8S rRNA;IMP|GO:0006364;rRNA processing;TAS GO:0000176;nuclear exosome (RNase complex);TAS|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPHOSPH6 https://www.uniprot.org/uniprot/Q99547 https://www.ncbi.nlm.nih.gov/omim/?term=605500 http://www.informatics.jax.org/searchtool/Search.do?query=MPHOSPH6&submit=Quick%0D%7204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPHOSPH6 rs2967410 0.600839 0 0 1 0 0 intergenic intergenic intergenic MPHOSPH6(dist=50008),CDH13(dist=406562) 7SK(dist=27442),CDH13(dist=406562) ENSG00000251888(dist=27442),ENSG00000264502(dist=127275) Na Na Na Na Na Na Het;T>C 241;5|9 Het;T>C 86;2|4 Hom;T>C 106;0|4 N N - 16 82857915 82857915 G GAA indel ncRNA_exonic LOC101928446 rs138768604 0.0982428 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928446 CDH13 ENSG00000260862 Na Na Na Na Na Na Het;+AA 666;36|24 Het;+AA 428;29|20 Hom;+AA 1947;0|55 N N - 16 82858151 82858151 A G snp ncRNA_exonic LOC101928446 rs11649358 0.213259 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928446 CDH13 ENSG00000260862 Na Na Na Na Na Na Het;A>G 962;51|40 Het;A>G 1301;88|59 Hom;A>G 3856;0|136 N N - 16 82858571 82858571 T C snp ncRNA_exonic LOC101928446 rs1030242 0.189297 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928446 CDH13 ENSG00000260862 Na Na Na Na Na Na Het;T>C 1492;55|55 Het;T>C 1381;55|58 Hom;T>C 3212;1|112 N N - 16 82860249 82860249 G T snp ncRNA_exonic LOC101928446 rs2549151 0.327875 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928446 CDH13 ENSG00000260862 Na Na Na Na Na Na Het;G>T 1550;96|72 Het;G>T 1241;92|63 Hom;G>T 4286;1|164 N N - 16 82862855 82862855 C T snp ncRNA_intronic AC099506.1 rs2549157 0.204473 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928446 CDH13 ENSG00000260862 Na Na Na Na Na Na Het;C>T 942;53|41 Het;C>T 1087;40|47 Hom;C>T 3691;2|87 N N - 16 82939333 82939333 G A snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs6565077 0.429513 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;G>A 304;8|14 Het;G>A 339;21|17 Hom;G>A 915;0|34 N N - 16 82939373 82939373 G T snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs6565078 0.195487 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;G>T 357;25|19 Het;G>T 578;32|29 Hom;G>T 1313;0|50 N N - 16 83023920 83023920 T C snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs4783304 0.247404 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;T>C 414;47|20 Het;T>C 888;53|44 Hom;T>C 1979;0|73 N N - 16 83024017 83024017 A G snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs72792134 0.10004 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;A>G 93;11|4 Het;A>G 172;10|6 Hom;A>G 255;0|7 N N - 16 83065664 83065664 G A snp synonymous SNV G207A S69S polar,hydrophilic,neutral polar,hydrophilic,neutral CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs6565105 0.534145 0.5535 0.5820 1 0 0 exonic exonic exonic CDH13 CDH13 ENSG00000140945 synonymous SNV synonymous SNV unknown CDH13:NM_001257:exon3:c.G207A:p.S69S,CDH13:NM_001220489:exon3:c.G207A:p.S69S,CDH13:NM_001220488:exon4:c.G348A:p.S116S,CDH13:NM_001220491:exon3:c.G207A:p.S69S,CDH13:NM_001220492:exon3:c.G207A:p.S69S, CDH13:uc021tlw.1:exon3:c.G207A:p.S69S,CDH13:uc010chh.3:exon3:c.G207A:p.S69S,CDH13:uc010vns.2:exon4:c.G348A:p.S116S,CDH13:uc010vnu.2:exon3:c.G207A:p.S69S,CDH13:uc002fgx.3:exon3:c.G207A:p.S69S, UNKNOWN Het;G>A 935;53|40 Het;G>A 1065;57|50 Hom;G>A 2799;0|103 N N - 16 83065904 83065904 T C snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs7197530 0.284145 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;T>C 490;17|19 Het;T>C 638;17|23 Hom;T>C 489;0|18 N N - 16 83065965 83065965 T A snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs2228685 0.529153 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;T>A 253;5|8 Het;T>A 235;5|8 Hom;T>A 116;0|4 N N - 16 83251210 83251210 G A snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs4572385 0.714257 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;G>A 572;19|24 Het;G>A 411;19|17 Hom;G>A 1055;0|35 N N - 16 83251259 83251259 C A snp intronic CDH13 Cdh13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 rs4077622 0.709065 0 0 1 0 0 intronic intronic intronic CDH13 CDH13 ENSG00000140945 Na Na Na Na Na Na Het;C>A 348;12|14 Ref Hom;C>A 389;0|12 N N - 16 83775083 83775083 A G snp ncRNA_intronic AC009063.2 rs12935436 0.120008 0 0 1 0 0 intronic intronic ncRNA_intronic CDH13 CDH13 ENSG00000260788 Na Na Na Na Na Na Het;A>G 196;2|9 Ref Hom;A>G 291;0|8 N N - 16 83837231 83837231 G A snp ncRNA_intronic LOC102724163 rs12444506 0.328674 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102724163 CDH13(dist=7016),HSBP1(dist=4277) ENSG00000260228 Na Na Na Na Na Na Het;G>A 259;5|10 Het;G>A 235;11|10 Hom;G>A 413;0|13 N N - 16 83837627 83837627 T C snp upstream LOC102724163 rs4782844 0.177716 0 0 1 0 0 upstream intergenic ncRNA_intronic LOC102724163 CDH13(dist=7412),HSBP1(dist=3881) ENSG00000260228 Na Na Na Na Na Na Het;T>C 535;13|23 Het;T>C 645;22|30 Hom;T>C 1073;0|40 N N - 16 83841560 83841560 G T snp UTR5 -122G>T HSBP1 Hsbp1 ENSG00000230989 heat shock factor binding protein 1 chr16:83841448-83853342 The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008] smoking cessation Homozygous null mice die at the perimplantation stage and embryoid bodies show disorganized germ layers and endoderm development abnormaliies. HSF1-dependent transactivation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006936;muscle contraction;IEA|GO:0035987;endodermal cell differentiation;IEA|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005856;cytoskeleton;IEA GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSBP1 https://www.ncbi.nlm.nih.gov/omim/?term=604553 http://www.informatics.jax.org/searchtool/Search.do?query=HSBP1&submit=Quick%0D%19012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSBP1 rs3743623 0.32528 0 0 1 0 0 UTR5 UTR5 UTR5 HSBP1(NM_001537:c.-122G>T) HSBP1(uc002fgy.2:c.-122G>T) ENSG00000230989(ENST00000433866:c.-122G>T) Na Na Na Na Na Na Het;G>T 255;8|10 Het;G>T 176;13|8 Hom;G>T 718;0|22 N N - 16 83842792 83842792 G T snp intronic HSBP1 Hsbp1 ENSG00000230989 heat shock factor binding protein 1 chr16:83841448-83853342 The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008] smoking cessation Homozygous null mice die at the perimplantation stage and embryoid bodies show disorganized germ layers and endoderm development abnormaliies. HSF1-dependent transactivation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006936;muscle contraction;IEA|GO:0035987;endodermal cell differentiation;IEA|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005856;cytoskeleton;IEA GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSBP1 https://www.ncbi.nlm.nih.gov/omim/?term=604553 http://www.informatics.jax.org/searchtool/Search.do?query=HSBP1&submit=Quick%0D%19012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSBP1 rs8053753 0.57488 0 0 1 0 0 intronic intronic intronic HSBP1 HSBP1 ENSG00000230989 Na Na Na Na Na Na Het;G>T 63;6|3 Het;G>T 67;7|3 Hom;G>T 175;0|5 N N - 16 84030720 84030720 C T snp intronic NECAB2 Necab2 ENSG00000103154 N-terminal EF-hand calcium binding protein 2 chr16:84002237-84036381 The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016] Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit spermatid gigantism. GO:0005737;cytoplasm;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NECAB2 https://www.uniprot.org/uniprot/Q7Z6G3 http://www.informatics.jax.org/searchtool/Search.do?query=NECAB2&submit=Quick%0D%2975ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NECAB2 rs34965558 0.118011 0 0 1 0 0 intronic intronic intronic NECAB2 NECAB2 ENSG00000103154 Na Na Na Na Na Na Het;C>T 156;3|6 Het;C>T 113;1|4 Hom;C>T 93;0|4 N N - 16 84057702 84057702 A G snp intronic SLC38A8 Slc38a8 ENSG00000166558 solute carrier family 38 member 8 chr16:84043272-84076241 This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014] Heart Rate; Tobacco Use Disorder GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8 https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615585 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8 rs9929729 0.45627 0 0 1 0 0 intronic intronic intronic SLC38A8 SLC38A8 ENSG00000166558 Na Na Na Na Na Na Het;A>G 52;1|3 Ref Hom;A>G 71;0|4 N N - 16 84070036 84070036 A G snp intronic SLC38A8 Slc38a8 ENSG00000166558 solute carrier family 38 member 8 chr16:84043272-84076241 This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014] Heart Rate; Tobacco Use Disorder GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8 https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615585 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8 rs8052935 0.705471 0 0 1 0 0 intronic intronic intronic SLC38A8 SLC38A8 ENSG00000166558 Na Na Na Na Na Na Het;A>G 169;2|5 Ref Hom;A>G 142;0|4 N N - 16 84070053 84070053 C G snp intronic SLC38A8 Slc38a8 ENSG00000166558 solute carrier family 38 member 8 chr16:84043272-84076241 This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014] Heart Rate; Tobacco Use Disorder GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A8 https://hpo.jax.org/app/browse/search?q=SLC38A8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615585 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A8&submit=Quick%0D%11824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A8 rs8053088 0.696885 0 0 1 0 0 intronic intronic intronic SLC38A8 SLC38A8 ENSG00000166558 Na Na Na Na Na Na Het;C>G 231;5|7 Ref Hom;C>G 142;0|4 N N - 16 84199643 84199646 ATTT A indel intronic DNAAF1 Dnaaf1 ENSG00000154099 dynein axonemal assembly factor 1 chr16:84178865-84212373 The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] CILIARY DYSKINESIA PRIMARY 13 Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. GO:0001947;heart looping;IMP|GO:0003341;cilium movement;IMP|GO:0003356;regulation of cilium beat frequency;IMP|GO:0030324;lung development;IMP|GO:0035469;determination of pancreatic left/right asymmetry;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IEA|GO:0060271;cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IC|GO:0060972;left/right pattern formation;IMP|GO:0070286;axonemal dynein complex assembly;IMP|GO:0071907;determination of digestive tract left/right asymmetry;IMP|GO:0071910;determination of liver left/right asymmetry;IMP GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0016607;nuclear speck;IDA|GO:0042995;cell projection;IEA GO:0070840;dynein complex binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/DNAAF1 https://www.uniprot.org/uniprot/Q8NEP3 https://hpo.jax.org/app/browse/search?q=DNAAF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613190 http://www.informatics.jax.org/searchtool/Search.do?query=DNAAF1&submit=Quick%0D%9724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAAF1 rs780277561 0 0 0.0010 1 0 0 intronic intronic intronic DNAAF1 DNAAF1 ENSG00000154099 Na Na Na Na Na Na Het;-TTT 271;2|12 Ref Hom;-TTT 170;1|8 N N - 16 84455961 84455961 A G snp intronic ATP2C2 Atp2c2 ENSG00000064270 ATPase secretory pathway Ca2+ transporting 2 chr16:84402133-84497793 Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Migraine without Aura; ADHD | attention-deficit hyperactivity disorder Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061180;mammary gland epithelium development;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;IEA|GO:0090280;positive regulation of calcium ion import;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP2C2 https://www.uniprot.org/uniprot/O75185 https://www.ncbi.nlm.nih.gov/omim/?term=613082 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2C2&submit=Quick%0D%1125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2C2 rs2288573 0.473243 0.5372 0.4348 1 0 0 intronic intronic intronic ATP2C2 ATP2C2 ENSG00000064270 Na Na Na Na Na Na Het;A>G 542;25|21 Het;A>G 1436;28|54 Hom;A>G 1841;2|64 N N - 16 84459512 84459512 G C snp intronic ATP2C2 Atp2c2 ENSG00000064270 ATPase secretory pathway Ca2+ transporting 2 chr16:84402133-84497793 Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Migraine without Aura; ADHD | attention-deficit hyperactivity disorder Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061180;mammary gland epithelium development;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;IEA|GO:0090280;positive regulation of calcium ion import;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP2C2 https://www.uniprot.org/uniprot/O75185 https://www.ncbi.nlm.nih.gov/omim/?term=613082 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2C2&submit=Quick%0D%1125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2C2 rs1887 0.408546 0 0 1 0 0 intronic intronic intronic ATP2C2 ATP2C2 ENSG00000064270 Na Na Na Na Na Na Het;G>C 338;19|13 Het;G>C 294;11|12 Hom;G>C 631;0|20 N N - 16 84473004 84473004 C CTT indel intronic ATP2C2 Atp2c2 ENSG00000064270 ATPase secretory pathway Ca2+ transporting 2 chr16:84402133-84497793 Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Migraine without Aura; ADHD | attention-deficit hyperactivity disorder Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061180;mammary gland epithelium development;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;IEA|GO:0090280;positive regulation of calcium ion import;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP2C2 https://www.uniprot.org/uniprot/O75185 https://www.ncbi.nlm.nih.gov/omim/?term=613082 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2C2&submit=Quick%0D%1125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2C2 rs3085208 0.542732 0.4646 0.4769 1 0 0 intronic intronic intronic ATP2C2 ATP2C2 ENSG00000064270 Na Na Na Na Na Na Het;+TT 968;22|25 Het;+TT 810;16|22 Hom;+TT 2442;0|58 N N - 16 84473192 84473192 A G snp intronic ATP2C2 Atp2c2 ENSG00000064270 ATPase secretory pathway Ca2+ transporting 2 chr16:84402133-84497793 Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Migraine without Aura; ADHD | attention-deficit hyperactivity disorder Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061180;mammary gland epithelium development;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;IEA|GO:0090280;positive regulation of calcium ion import;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP2C2 https://www.uniprot.org/uniprot/O75185 https://www.ncbi.nlm.nih.gov/omim/?term=613082 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2C2&submit=Quick%0D%1125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2C2 rs931077 0.541534 0 0 1 0 0 intronic intronic intronic ATP2C2 ATP2C2 ENSG00000064270 Na Na Na Na Na Na Het;A>G 526;18|19 Het;A>G 192;10|10 Hom;A>G 932;0|22 N N - 16 84733551 84733551 C G snp upstream USP10 Usp10 ENSG00000103194 ubiquitin specific peptidase 10 chr16:84733584-84813528 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] Tobacco Use Disorder; height; Luteinizing Hormone Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP10 https://www.uniprot.org/uniprot/Q14694 https://www.ncbi.nlm.nih.gov/omim/?term=609818 http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10 rs3751761 0.148363 0 0 1 0 0 upstream upstream upstream USP10 USP10 ENSG00000103194 Na Na Na Na Na Na Het;C>G 108;2|5 Het;C>G 205;5|11 Hom;C>G 71;0|4 N N - 16 84778685 84778685 A G snp nonsynonymous SNV A598G M200V hydrophobic,neutral aliphatic,hydrophobic,neutral USP10 Usp10 ENSG00000103194 ubiquitin specific peptidase 10 chr16:84733584-84813528 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] Tobacco Use Disorder; height; Luteinizing Hormone Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP10 https://www.uniprot.org/uniprot/Q14694 https://www.ncbi.nlm.nih.gov/omim/?term=609818 http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10 rs1862792 0.203075 0.2259 0.2304 0.08 1 13 exonic exonic exonic USP10 USP10 ENSG00000103194 nonsynonymous SNV nonsynonymous SNV unknown USP10:NM_001272075:exon5:c.A610G:p.M204V,USP10:NM_005153:exon4:c.A598G:p.M200V, USP10:uc002fii.3:exon4:c.A598G:p.M200V,USP10:uc010voe.2:exon5:c.A610G:p.M204V, UNKNOWN Het;A>G 2248;99|99 Ref Hom;A>G 5518;0|202 N N - 16 84842863 84842897 AGTGATAATTAATCTTTAGTTAAACCTTAATATTT A indel intergenic USP10 Usp10 ENSG00000103194 ubiquitin specific peptidase 10 chr16:84733584-84813528 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] Tobacco Use Disorder; height; Luteinizing Hormone Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP10 https://www.uniprot.org/uniprot/Q14694 https://www.ncbi.nlm.nih.gov/omim/?term=609818 http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10 rs147677319 0.0994409 0 0 1 0 0 intergenic intergenic intergenic USP10(dist=29336),CRISPLD2(dist=10690) USP10(dist=29336),CRISPLD2(dist=10690) ENSG00000103194(dist=29335),ENSG00000103196(dist=10693) Na Na Na Na Na Na Het;-GTGATAATTAATCTTTAGTTAAACCTTAATATTT 746;19|20 Het;-GTGATAATTAATCTTTAGTTAAACCTTAATATTT 390;33|13 Hom;-GTGATAATTAATCTTTAGTTAAACCTTAATATTT 1351;0|33 N N - 16 84842946 84842946 A G snp intergenic USP10 Usp10 ENSG00000103194 ubiquitin specific peptidase 10 chr16:84733584-84813528 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] Tobacco Use Disorder; height; Luteinizing Hormone Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP10 https://www.uniprot.org/uniprot/Q14694 https://www.ncbi.nlm.nih.gov/omim/?term=609818 http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10 rs9934611 0.648762 0 0 1 0 0 intergenic intergenic intergenic USP10(dist=29419),CRISPLD2(dist=10641) USP10(dist=29419),CRISPLD2(dist=10641) ENSG00000103194(dist=29418),ENSG00000103196(dist=10644) Na Na Na Na Na Na Het;A>G 311;7|12 Het;A>G 192;5|7 Hom;A>G 429;0|14 N N - 16 84842977 84842977 G A snp intergenic USP10 Usp10 ENSG00000103194 ubiquitin specific peptidase 10 chr16:84733584-84813528 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] Tobacco Use Disorder; height; Luteinizing Hormone Homozygous inactivation of this gene leads to alterations in arsenite-induced stress granule formation, reactive oxygen species (ROS) production, and ROS-dependent apoptosis in mouse embryonic fibroblasts. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IMP|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0071347;cellular response to interleukin-1;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0002039;p53 binding;IPI|GO:0003723;RNA binding;IDA|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0044325;ion channel binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP10 https://www.uniprot.org/uniprot/Q14694 https://www.ncbi.nlm.nih.gov/omim/?term=609818 http://www.informatics.jax.org/searchtool/Search.do?query=USP10&submit=Quick%0D%2982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP10 rs4572384 0.613818 0 0 1 0 0 intergenic intergenic intergenic USP10(dist=29450),CRISPLD2(dist=10610) USP10(dist=29450),CRISPLD2(dist=10610) ENSG00000103194(dist=29449),ENSG00000103196(dist=10613) Na Na Na Na Na Na Het;G>A 184;3|8 Het;G>A 34;2|2 Hom;G>A 161;0|5 N N - 16 84872051 84872051 G C snp UTR5 -51G>C CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs1546124 0.659944 0.6960 0.6719 1 0 0 UTR5 UTR5 UTR5 CRISPLD2(NM_031476:c.-51G>C) CRISPLD2(uc002fik.4:c.-51G>C,uc002fil.2:c.-51G>C,uc002fim.2:c.-51G>C,uc002fin.4:c.-51G>C,uc010vog.1:c.-51G>C,uc010voh.1:c.-51G>C) ENSG00000103196(ENST00000262424:c.-51G>C,ENST00000566151:c.-51G>C,ENST00000567845:c.-51G>C,ENST00000564567:c.-51G>C,ENST00000569090:c.-51G>C) Na Na Na Na Na Na Het;G>C 134;10|6 Het;G>C 259;9|11 Hom;G>C 444;0|14 N N - 16 84879286 84879286 G A snp intronic CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs12931881 0.270966 0 0 1 0 0 intronic intronic intronic CRISPLD2 CRISPLD2 ENSG00000103196 Na Na Na Na Na Na Het;G>A 369;21|15 Het;G>A 241;14|10 Hom;G>A 651;0|23 N N - 16 84879324 84879324 T C snp intronic CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs12051168 0.305112 0 0 1 0 0 intronic intronic intronic CRISPLD2 CRISPLD2 ENSG00000103196 Na Na Na Na Na Na Het;T>C 735;37|32 Het;T>C 554;28|23 Hom;T>C 1371;0|47 N N - 16 84879464 84879464 A G snp nonsynonymous SNV A313G S105G polar,hydrophilic,neutral aliphatic,neutral CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs12051468 0.373403 0.4181 0.3981 0.08 1 13 exonic exonic exonic CRISPLD2 CRISPLD2 ENSG00000103196 nonsynonymous SNV nonsynonymous SNV unknown CRISPLD2:NM_031476:exon3:c.A313G:p.S105G, CRISPLD2:uc010voh.1:exon3:c.A313G:p.S105G,CRISPLD2:uc002fin.4:exon3:c.A313G:p.S105G,CRISPLD2:uc002fim.2:exon3:c.A313G:p.S105G,CRISPLD2:uc002fil.2:exon3:c.A313G:p.S105G, UNKNOWN Het;A>G 1727;61|74 Het;A>G 1352;64|66 Hom;A>G 3360;0|127 N N - 16 84882911 84882911 T C snp UTR5 -192T>C CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs4783086 0.577077 0 0 1 0 0 intronic intronic UTR5 CRISPLD2 CRISPLD2 ENSG00000103196(ENST00000566789:c.-192T>C) Na Na Na Na Na Na Het;T>C 506;14|19 Het;T>C 317;14|13 Hom;T>C 703;0|22 N N - 16 84882974 84882974 C A snp UTR5 -129C>A CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs4783087 0.538738 0.5610 0.6017 1 0 0 intronic intronic UTR5 CRISPLD2 CRISPLD2 ENSG00000103196(ENST00000566789:c.-129C>A) Na Na Na Na Na Na Het;C>A 864;43|40 Het;C>A 740;31|33 Hom;C>A 1668;0|58 N N - 16 84883102 84883102 C T snp synonymous SNV C471T P157P hydrophobic,neutral hydrophobic,neutral CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs8061351 0.59385 0.6042 0.6944 1 0 0 exonic exonic exonic CRISPLD2 CRISPLD2 ENSG00000103196 synonymous SNV synonymous SNV unknown CRISPLD2:NM_031476:exon4:c.C471T:p.P157P, CRISPLD2:uc010voh.1:exon4:c.C471T:p.P157P,CRISPLD2:uc002fin.4:exon4:c.C471T:p.P157P,CRISPLD2:uc002fim.2:exon4:c.C471T:p.P157P, UNKNOWN Het;C>T 1508;75|69 Het;C>T 1716;79|84 Hom;C>T 4038;2|159 N N - 16 84883195 84883195 A ATTG indel intronic CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs111755787 0.626597 0 0 1 0 0 intronic intronic intronic CRISPLD2 CRISPLD2 ENSG00000103196 Na Na Na Na Na Na Het;+TTG 590;25|17 Het;+TTG 709;17|19 Hom;+TTG 1476;0|35 N N - 16 84884072 84884072 T G snp intronic CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs4782673 0.64377 0 0 1 0 0 intronic intronic intronic CRISPLD2 CRISPLD2 ENSG00000103196 Na Na Na Na Na Na Het;T>G 348;9|12 Het;T>G 335;16|13 Hom;T>G 384;0|12 N N - 16 84884116 84884116 A G snp intronic CRISPLD2 Crispld2 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 chr16:84853590-84954374 Body Height; height; cleft lip with cleft palate cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; oral clefts; Cleft Lip|Cleft Palate Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. Neutrophil degranulation GO:0030198;extracellular matrix organization;IEA|GO:0030324;lung development;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0060325;face morphogenesis;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030133;transport vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRISPLD2 https://www.uniprot.org/uniprot/Q9H0B8 https://www.ncbi.nlm.nih.gov/omim/?term=612434 http://www.informatics.jax.org/searchtool/Search.do?query=CRISPLD2&submit=Quick%0D%2983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRISPLD2 rs4783090 0.685903 0 0 1 0 0 intronic intronic intronic CRISPLD2 CRISPLD2 ENSG00000103196 Na Na Na Na Na Na Het;A>G 744;19|28 Het;A>G 956;33|37 Hom;A>G 770;0|26 N N - 16 85233027 85233027 G A snp intergenic LOC400548 rs4238717 0.634585 0 0 1 0 0 intergenic intergenic intergenic LOC400548(dist=49978),LINC00311(dist=83537) LOC400548(dist=49978),LINC00311(dist=83537) ENSG00000262601(dist=14058),ENSG00000270313(dist=79399) Na Na Na Na Na Na Het;G>A 285;33|16 Ref Hom;G>A 1286;0|49 N N - 16 85259477 85259477 A G snp intergenic LOC400548 rs9928660 0.527756 0 0 1 0 0 intergenic intergenic intergenic LOC400548(dist=76428),LINC00311(dist=57087) LOC400548(dist=76428),LINC00311(dist=57087) ENSG00000262601(dist=40508),ENSG00000270313(dist=52949) Na Na Na Na Na Na Het;A>G 50;3|4 Ref Hom;A>G 143;0|6 N N - 16 85319399 85319399 C A snp ncRNA_exonic LINC00311 rs12447206 0.797524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00311 LINC00311 ENSG00000179219 Na Na Na Na Na Na Het;C>A 1029;88|55 Het;C>A 1191;71|58 Hom;C>A 2689;0|101 N N - 16 85321483 85321483 T C snp ncRNA_exonic LINC00311 rs2966858 0.913339 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LINC00311 LINC00311 ENSG00000179219(dist=1914),ENSG00000266307(dist=18349) Na Na Na Na Na Na Het;T>C 573;15|25 Het;T>C 391;18|21 Hom;T>C 762;0|30 N N - 16 85437616 85437616 T C snp intergenic MIR5093 rs62048541 0.423123 0 0 1 0 0 intergenic intergenic intergenic MIR5093(dist=97685),GSE1(dist=207413) MIR5093(dist=97685),GSE1(dist=207413) ENSG00000261567(dist=44561),ENSG00000264203(dist=37413) Na Na Na Na Na Na Het;T>C 952;50|26 Ref Hom;T>C 1412;0|31 N N - 16 85437625 85437625 T C snp intergenic MIR5093 rs60731485 0.734824 0 0 1 0 0 intergenic intergenic intergenic MIR5093(dist=97694),GSE1(dist=207404) MIR5093(dist=97694),GSE1(dist=207404) ENSG00000261567(dist=44570),ENSG00000264203(dist=37404) Na Na Na Na Na Na Het;T>C 943;51|27 Ref Hom;T>C 1502;0|34 N N - 16 85437627 85437628 CG C indel intergenic MIR5093 rs60643529 0.734225 0 0 1 0 0 intergenic intergenic intergenic MIR5093(dist=97696),GSE1(dist=207401) MIR5093(dist=97696),GSE1(dist=207401) ENSG00000261567(dist=44572),ENSG00000264203(dist=37401) Na Na Na Na Na Na Het;-G 937;51|27 Ref Hom;-G 1493;0|34 N N - 16 85451508 85451508 C T snp intergenic MIR5093 rs12931249 0.181909 0 0 1 0 0 intergenic intergenic intergenic MIR5093(dist=111577),GSE1(dist=193521) MIR5093(dist=111577),GSE1(dist=193521) ENSG00000261567(dist=58453),ENSG00000264203(dist=23521) Na Na Na Na Na Na Het;C>T 86;4|3 Ref Hom;C>T 197;0|5 N N - 16 85451514 85451514 C T snp intergenic MIR5093 rs12931256 0.181909 0 0 1 0 0 intergenic intergenic intergenic MIR5093(dist=111583),GSE1(dist=193515) MIR5093(dist=111583),GSE1(dist=193515) ENSG00000261567(dist=58459),ENSG00000264203(dist=23515) Na Na Na Na Na Na Het;C>T 89;3|3 Ref Hom;C>T 197;0|5 N N - 16 86155275 86155275 C G snp intergenic IRF8 Irf8 ENSG00000140968 interferon regulatory factor 8 chr16:85932409-85956215 Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008] Body Mass Index; Coronary Artery Disease; Scleroderma, Systemic; Parkinson Disease; Hepatitis B, Chronic|Viremia; Multiple Sclerosis; Liver Cirrhosis, Biliary; Arthritis, Rheumatoid; Triglycerides; Fibrinogen; Chronic lymphocytic leukemia; diabetes, type 1; Colitis, Ulcerative; Platelet Count; Tunica Media; multiple sclerosis; Leukemia, Lymphoid; Leukemia, Lymphocytic, Chronic, B-Cell; Iron; Alcoholism; Uric Acid; Cholesterol, HDL; hepatitis C, chronic; Alkaline Phosphatase Homozygotes for a targeted null mutation exhibit increased incidence of viral infections, shortened life span, deregulated hematopoiesis, and hematological neoplasias. Heterozygotes show similar, but milder, phenotypes. Interferon alpha/beta signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006909;phagocytosis;IEA|GO:0006955;immune response;TAS|GO:0009617;response to bacterium;IEA|GO:0030099;myeloid cell differentiation;IEA|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0032735;positive regulation of interleukin-12 production;IEA|GO:0042742;defense response to bacterium;IEA|GO:0042832;defense response to protozoan;IEA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0060261;positive regulation of transcription initiation from RNA polymerase II promoter;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071346;cellular response to interferon-gamma;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000975;regulatory region DNA binding;IEA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IRF8 https://www.uniprot.org/uniprot/Q02556 https://hpo.jax.org/app/browse/search?q=IRF8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601565 http://www.informatics.jax.org/searchtool/Search.do?query=IRF8&submit=Quick%0D%8099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF8 rs9922711 0.728834 0 0 1 0 0 intergenic intergenic intergenic IRF8(dist=199064),LINC01082(dist=74512) IRF8(dist=199064),LOC146513(dist=164762) ENSG00000261177(dist=32143),ENSG00000268078(dist=36537) Na Na Na Na Na Na Het;C>G 63;6|5 Ref Hom;C>G 315;0|14 N N - 16 86324282 86324282 C T snp ncRNA_exonic LOC146513 rs2696850 0.910942 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC146513 LOC146513 ENSG00000268532 Na Na Na Na Na Na Het;C>T 190;41|15 Het;C>T 635;34|32 Hom;C>T 1303;0|49 N N - 16 86325241 86325241 A G snp ncRNA_exonic LOC146513 rs2696855 0.862021 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC146513 LOC146513 ENSG00000268532 Na Na Na Na Na Na Het;A>G 1958;89|88 Het;A>G 2091;109|99 Hom;A>G 4551;0|168 N N - 16 86385562 86385562 G A snp intergenic LINC00917 rs28615293 0.355831 0 0 1 0 0 intergenic intergenic intergenic LINC00917(dist=6277),FENDRR(dist=122569) LINC00917(dist=6277),FENDRR(dist=122569) ENSG00000168367(dist=2273),ENSG00000268473(dist=82874) Na Na Na Na Na Na Het;G>A 310;10|13 Het;G>A 247;3|10 Hom;G>A 152;0|4 N N - 16 87092200 87092217 TCATGCCTTCTTCTATCA T indel ncRNA_exonic LOC440390 rs58625512 0.423323 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC440390 BC041439(dist=336635),AK125749(dist=24951) ENSG00000232190 Na Na Na Na Na Na Het;-CATGCCTTCTTCTATCA 2966;138|82 Het;-CATGCCTTCTTCTATCA 2988;111|83 Hom;-CATGCCTTCTTCTATCA 6792;0|154 N N - 16 87092598 87092598 T C snp ncRNA_exonic LOC440390 rs3902146 0.513179 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC440390 BC041439(dist=337033),AK125749(dist=24570) ENSG00000232190 Na Na Na Na Na Na Het;T>C 4734;201|206 Het;T>C 3624;171|162 Hom;T>C 9461;0|353 N N - 16 87093868 87093868 G C snp ncRNA_exonic LOC440390 rs8062021 0.417931 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC440390 BC041439(dist=338303),AK125749(dist=23300) ENSG00000232190 Na Na Na Na Na Na Het;G>C 2665;112|108 Het;G>C 1732;111|79 Hom;G>C 4852;2|172 N N - 16 87094121 87094121 T C snp ncRNA_intronic LOC440390 rs17697391 0.288738 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC440390 BC041439(dist=338556),AK125749(dist=23047) ENSG00000232190 Na Na Na Na Na Na Het;T>C 958;56|43 Het;T>C 967;48|46 Hom;T>C 2274;2|80 N N - 16 87096267 87096267 A C snp ncRNA_intronic LOC440390 rs28742230 0.282548 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC440390 BC041439(dist=340702),AK125749(dist=20901) ENSG00000232190 Na Na Na Na Na Na Het;A>C 492;7|15 Ref Hom;A>C 574;0|17 N N - 16 87350773 87350773 C A snp nonsynonymous SNV G76T A26S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral C16orf95 1700018B08Rik ENSG00000260456 chromosome 16 open reading frame 95 chr16:87117168-87351022 http://www.genecards.org/index.php?path=/Search/keyword/C16orf95 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf95&submit=Quick%0D%20376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf95 rs3748393 0.419529 0 0.4843 0.10 1 10 exonic exonic exonic C16orf95 C16orf95 ENSG00000260456 nonsynonymous SNV nonsynonymous SNV unknown C16orf95:NM_001195125:exon1:c.G76T:p.A26S,C16orf95:NM_001195124:exon1:c.G76T:p.A26S, C16orf95:uc021tmh.1:exon1:c.G76T:p.A26S,C16orf95:uc002fju.3:exon1:c.G76T:p.A26S, UNKNOWN Het;C>A 2151;64|94 Het;C>A 1360;64|66 Hom;C>A 3830;0|137 N N - 16 87376605 87376605 C T snp intronic FBXO31 Fbxo31 ENSG00000103264 F-box protein 31 chr16:87360593-87425748 This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Mental retardation autosomal recessive 45 Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;IMP|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0031571;mitotic G1 DNA damage checkpoint;IMP|GO:0043687;post-translational protein modification;TAS|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:2001224;positive regulation of neuron migration;IEA GO:0005813;centrosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019005;SCF ubiquitin ligase complex;IDA|GO:0043025;neuronal cell body;IEA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0030332;cyclin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXO31 https://www.uniprot.org/uniprot/Q5XUX0 https://hpo.jax.org/app/browse/search?q=FBXO31&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609102 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO31&submit=Quick%0D%2998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO31 rs2303763 0.64976 0.4984 0.6592 1 0 0 intronic intronic intronic FBXO31 FBXO31 ENSG00000103264 Na Na Na Na Na Na Het;C>T 369;21|16 Het;C>T 384;13|17 Hom;C>T 696;0|23 N N - 16 87377455 87377455 G C snp intronic FBXO31 Fbxo31 ENSG00000103264 F-box protein 31 chr16:87360593-87425748 This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Mental retardation autosomal recessive 45 Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007049;cell cycle;IEA|GO:0016567;protein ubiquitination;IEA|GO:0031145;anaphase-promoting complex-dependent catabolic process;IMP|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0031571;mitotic G1 DNA damage checkpoint;IMP|GO:0043687;post-translational protein modification;TAS|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:2001224;positive regulation of neuron migration;IEA GO:0005813;centrosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019005;SCF ubiquitin ligase complex;IDA|GO:0043025;neuronal cell body;IEA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0030332;cyclin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXO31 https://www.uniprot.org/uniprot/Q5XUX0 https://hpo.jax.org/app/browse/search?q=FBXO31&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609102 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO31&submit=Quick%0D%2998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO31 rs2303764 0.658746 0 0 1 0 0 intronic intronic intronic FBXO31 FBXO31 ENSG00000103264 Na Na Na Na Na Na Het;G>C 390;10|15 Het;G>C 401;25|19 Hom;G>C 616;0|23 N N - 16 87426256 87426256 A G snp UTR3 *16A>G MAP1LC3B Map1lc3b ENSG00000140941 microtubule associated protein 1 light chain 3 beta chr16:87417601-87438385 The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele develop, breed and behave normally and display a normal life span. In culture, mutant MEFs maintain wild-type levels of fibronectin (FN) protein despite reduced FN synthesis, and show normal induction of autophagosomes under starvation conditions. Receptor Mediated Mitophagy GO:0000422;mitophagy;IGI|GO:0006914;autophagy;IDA|GO:0016236;macroautophagy;TAS|GO:0061024;membrane organization;TAS|GO:0097352;autophagosome maturation;TAS GO:0000421;autophagosome membrane;TAS|GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005776;autophagosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005930;axoneme;ISS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP1LC3B https://www.uniprot.org/uniprot/Q9GZQ8 https://www.ncbi.nlm.nih.gov/omim/?term=609604 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1LC3B&submit=Quick%0D%8092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1LC3B rs72628299 0.641374 0 0 1 0 0 intronic intronic UTR3 MAP1LC3B MAP1LC3B ENSG00000140941(ENST00000564844:c.*16A>G) Na Na Na Na Na Na Het;A>G 95;7|5 Ref Hom;A>G 331;0|11 N N - 16 87652026 87652026 G A snp intronic JPH3 Jph3 ENSG00000154118 junctophilin 3 chr16:87635441-87731762 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016] Magnesium; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Huntington Disease|Myoclonic Cerebellar Dyssynergia|Spinocerebellar Ataxias; Huntington disease-like; Tobacco Use Disorder; Huntington's disease Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0035640;exploration behavior;IEA|GO:0040011;locomotion;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0060402;calcium ion transport into cytosol;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030314;junctional membrane complex;IEA GO:0003674;molecular_function;ND|GO:0015278;calcium-release channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/JPH3 https://www.uniprot.org/uniprot/Q8WXH2 https://hpo.jax.org/app/browse/search?q=JPH3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605268 http://www.informatics.jax.org/searchtool/Search.do?query=JPH3&submit=Quick%0D%9727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JPH3 rs4843249 0.476438 0 0 1 0 0 intronic intronic intronic JPH3 JPH3 ENSG00000154118 Na Na Na Na Na Na Het;G>A 72;4|4 Ref Hom;G>A 108;0|5 N N - 16 87677791 87677791 A C snp intronic JPH3 Jph3 ENSG00000154118 junctophilin 3 chr16:87635441-87731762 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016] Magnesium; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Huntington Disease|Myoclonic Cerebellar Dyssynergia|Spinocerebellar Ataxias; Huntington disease-like; Tobacco Use Disorder; Huntington's disease Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0035640;exploration behavior;IEA|GO:0040011;locomotion;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0060402;calcium ion transport into cytosol;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030314;junctional membrane complex;IEA GO:0003674;molecular_function;ND|GO:0015278;calcium-release channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/JPH3 https://www.uniprot.org/uniprot/Q8WXH2 https://hpo.jax.org/app/browse/search?q=JPH3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605268 http://www.informatics.jax.org/searchtool/Search.do?query=JPH3&submit=Quick%0D%9727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JPH3 rs918367 0.653355 0 0 1 0 0 intronic intronic intronic JPH3 JPH3 ENSG00000154118 Na Na Na Na Na Na Het;A>C 353;15|14 Het;A>C 323;25|14 Hom;A>C 649;0|19 N N - 16 87678144 87678144 T C snp synonymous SNV T663C S221S polar,hydrophilic,neutral polar,hydrophilic,neutral JPH3 Jph3 ENSG00000154118 junctophilin 3 chr16:87635441-87731762 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016] Magnesium; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Huntington Disease|Myoclonic Cerebellar Dyssynergia|Spinocerebellar Ataxias; Huntington disease-like; Tobacco Use Disorder; Huntington's disease Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0035640;exploration behavior;IEA|GO:0040011;locomotion;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0060402;calcium ion transport into cytosol;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030314;junctional membrane complex;IEA GO:0003674;molecular_function;ND|GO:0015278;calcium-release channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/JPH3 https://www.uniprot.org/uniprot/Q8WXH2 https://hpo.jax.org/app/browse/search?q=JPH3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605268 http://www.informatics.jax.org/searchtool/Search.do?query=JPH3&submit=Quick%0D%9727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JPH3 rs918368 0.651757 0.5723 0.5873 1 0 0 exonic exonic exonic JPH3 JPH3 ENSG00000154118 synonymous SNV synonymous SNV unknown JPH3:NM_020655:exon2:c.T663C:p.S221S, JPH3:uc002fkd.4:exon2:c.T663C:p.S221S, UNKNOWN Het;T>C 1908;90|73 Het;T>C 2102;88|94 Hom;T>C 3571;0|113 N N - 16 87730041 87730041 G C snp intronic JPH3 Jph3 ENSG00000154118 junctophilin 3 chr16:87635441-87731762 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016] Magnesium; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Huntington Disease|Myoclonic Cerebellar Dyssynergia|Spinocerebellar Ataxias; Huntington disease-like; Tobacco Use Disorder; Huntington's disease Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0035640;exploration behavior;IEA|GO:0040011;locomotion;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0060402;calcium ion transport into cytosol;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030314;junctional membrane complex;IEA GO:0003674;molecular_function;ND|GO:0015278;calcium-release channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/JPH3 https://www.uniprot.org/uniprot/Q8WXH2 https://hpo.jax.org/app/browse/search?q=JPH3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605268 http://www.informatics.jax.org/searchtool/Search.do?query=JPH3&submit=Quick%0D%9727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JPH3 rs8053904 0.470647 0 0 1 0 0 intronic intronic intronic JPH3 JPH3 ENSG00000154118 Na Na Na Na Na Na Het;G>C 197;1|6 Ref Hom;G>C 227;0|6 N N - 16 87742092 87742092 G A snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs2290018 0.360823 0.4081 0.3942 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;G>A 1161;72|56 Het;G>A 1126;78|57 Hom;G>A 3262;0|122 N N - 16 87744756 87744756 A C snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs60382083 0.123602 0 0 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;A>C 78;12|4 Het;A>C 133;6|5 Hom;A>C 373;0|10 N N - 16 87747994 87747994 G T snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs4843258 0.0896565 0 0 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;G>T 141;2|6 Het;G>T 109;2|5 Hom;G>T 395;0|13 N N - 16 87764403 87764403 C G snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs34481270 0.182308 0 0 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;C>G 128;4|4 Ref Hom;C>G 187;0|5 N N - 16 87764405 87764405 A G snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs34457954 0.130591 0 0 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;A>G 128;3|4 Ref Hom;A>G 187;0|4 N N - 16 87788686 87788686 C G snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs1019797 0.336262 0 0 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;C>G 187;5|6 Het;C>G 42;4|2 Hom;C>G 100;0|3 N N - 16 87788756 87788756 A G snp intronic KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs2303770 0.772165 0.6796 0.6774 1 0 0 intronic intronic intronic KLHDC4 KLHDC4 ENSG00000104731 Na Na Na Na Na Na Het;A>G 493;23|23 Het;A>G 125;12|8 Hom;A>G 374;0|15 N N - 16 87788864 87788864 G A snp nonsynonymous SNV C305T T102I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KLHDC4 Klhdc4 ENSG00000104731 kelch domain containing 4 chr16:87730091-87799598 C-Reactive Protein GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHDC4 https://www.uniprot.org/uniprot/Q8TBB5 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC4&submit=Quick%0D%3156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC4 rs2303771 0.407149 0.3609 0.3918 0.08 1 13 exonic exonic exonic KLHDC4 KLHDC4 ENSG00000104731 nonsynonymous SNV nonsynonymous SNV unknown KLHDC4:NM_001184856:exon4:c.C305T:p.T102I,KLHDC4:NM_001184854:exon2:c.C134T:p.T45I,KLHDC4:NM_017566:exon4:c.C305T:p.T102I, KLHDC4:uc002fki.3:exon4:c.C305T:p.T102I,KLHDC4:uc002fkl.3:exon2:c.C134T:p.T45I,KLHDC4:uc002fkj.3:exon4:c.C305T:p.T102I, UNKNOWN Het;G>A 909;44|41 Het;G>A 390;20|22 Hom;G>A 1254;0|49 N N - 16 87812864 87812864 C G snp ncRNA_exonic AC126696.3 rs6540077 0.625 0 0 1 0 0 upstream intergenic ncRNA_exonic LOC102724467 KLHDC4(dist=13266),SLC7A5(dist=50765) ENSG00000260498 Na Na Na Na Na Na Het;C>G 183;6|6 Het;C>G 271;6|10 Hom;C>G 173;0|5 N N - 16 87887560 87887560 G A snp intronic SLC7A5 Slc7a5 ENSG00000103257 solute carrier family 7 member 5 chr16:87863629-87903094 melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a targeted mutation die prenatally. Tryptophan catabolism GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5 https://www.uniprot.org/uniprot/Q01650 https://www.ncbi.nlm.nih.gov/omim/?term=600182 http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5 rs77250474 0.23722 0 0 1 0 0 intronic intronic intronic SLC7A5 SLC7A5 ENSG00000103257 Na Na Na Na Na Na Het;G>A 49;1|3 Ref Hom;G>A 124;0|4 N N - 16 87901154 87901160 GCCTCCC G indel intronic SLC7A5 Slc7a5 ENSG00000103257 solute carrier family 7 member 5 chr16:87863629-87903094 melphalan pharmacokinetics melphalan side effects; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a targeted mutation die prenatally. Tryptophan catabolism GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0015804;neutral amino acid transport;ISS|GO:0015807;L-amino acid transport;IEA|GO:0030154;cell differentiation;IEA|GO:0050900;leukocyte migration;TAS|GO:1902475;L-alpha-amino acid transmembrane transport;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015175;neutral amino acid transmembrane transporter activity;TAS|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IBA|GO:0042605;peptide antigen binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SLC7A5 https://www.uniprot.org/uniprot/Q01650 https://www.ncbi.nlm.nih.gov/omim/?term=600182 http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A5&submit=Quick%0D%2996ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A5 Na 0 0 0 1 0 0 intronic intronic intronic SLC7A5 SLC7A5 ENSG00000103257 Na Na Na Na Na Na Het;-CCTCCC 1648;17|42 Ref Hom;-CCTCCC 1811;2|62 N N - 16 87922036 87922036 A G snp intronic CA5A Car5a ENSG00000174990 carbonic anhydrase 5A chr16:87921625-87970135 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit decreased body size, hyperammonemia, and increased levels of urinary metabolites. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA5A https://hpo.jax.org/app/browse/search?q=CA5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114761 http://www.informatics.jax.org/searchtool/Search.do?query=CA5A&submit=Quick%0D%13617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA5A rs8056952 0.338458 0 0 1 0 0 intronic intronic intronic CA5A CA5A ENSG00000174990 Na Na Na Na Na Na Het;A>G 36;4|2 Ref Hom;A>G 192;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 87943237 87943237 G A snp intronic CA5A Car5a ENSG00000174990 carbonic anhydrase 5A chr16:87921625-87970135 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit decreased body size, hyperammonemia, and increased levels of urinary metabolites. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA5A https://hpo.jax.org/app/browse/search?q=CA5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114761 http://www.informatics.jax.org/searchtool/Search.do?query=CA5A&submit=Quick%0D%13617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA5A rs117633633 0.0357428 0 0 1 0 0 intronic intronic intronic CA5A CA5A ENSG00000174990 Na Na Na Na Na Na Het;G>A 534;37|26 Ref Hom;G>A 1110;2|42 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88066717 88066717 C T snp nonsynonymous SNV C1042T P348S hydrophobic,neutral polar,hydrophilic,neutral BANP Banp ENSG00000172530 BTG3 associated nuclear protein chr16:87982850-88110924 This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Fibrinogen; Menopause; Stroke; Cornea; Tobacco Use Disorder Regulation of TP53 Activity through Association with Co-factors GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0034504;protein localization to nucleus;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BANP https://www.ncbi.nlm.nih.gov/omim/?term=611564 http://www.informatics.jax.org/searchtool/Search.do?query=BANP&submit=Quick%0D%13183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BANP rs74992447 0.184305 0.1221 0.1487 0.17 2 12 exonic exonic exonic BANP BANP ENSG00000172530 nonsynonymous SNV nonsynonymous SNV unknown BANP:NM_017869:exon8:c.C949T:p.P317S,BANP:NM_001173539:exon9:c.C1066T:p.P356S,BANP:NM_001173541:exon8:c.C949T:p.P317S,BANP:NM_001173540:exon8:c.C967T:p.P323S,BANP:NM_001173542:exon9:c.C1066T:p.P356S,BANP:NM_001173543:exon9:c.C1042T:p.P348S,BANP:NM_079837:exon8:c.C949T:p.P317S, BANP:uc002fkr.3:exon9:c.C1042T:p.P348S,BANP:uc002fkq.3:exon8:c.C949T:p.P317S,BANP:uc021tml.1:exon9:c.C1066T:p.P356S,BANP:uc002fko.1:exon8:c.C757T:p.P253S,BANP:uc010vow.2:exon9:c.C1066T:p.P356S,BANP:uc002fkp.3:exon8:c.C949T:p.P317S,BANP:uc002fks.4:exon8:c.C949T:p.P317S,BANP:uc010vov.2:exon8:c.C967T:p.P323S, UNKNOWN Het;C>T 2259;121|103 Ref Hom;C>T 4616;0|169 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88071516 88071516 C T snp intronic BANP Banp ENSG00000172530 BTG3 associated nuclear protein chr16:87982850-88110924 This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Fibrinogen; Menopause; Stroke; Cornea; Tobacco Use Disorder Regulation of TP53 Activity through Association with Co-factors GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0034504;protein localization to nucleus;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BANP https://www.ncbi.nlm.nih.gov/omim/?term=611564 http://www.informatics.jax.org/searchtool/Search.do?query=BANP&submit=Quick%0D%13183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BANP rs188770212 0.00379393 0.0002 0 1 0 0 intronic intronic intronic BANP BANP ENSG00000172530 Na Na Na Na Na Na Het;C>T 839;55|35 Ref Hom;C>T 1692;0|59 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88105725 88105725 G A snp synonymous SNV G1245A A415A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BANP Banp ENSG00000172530 BTG3 associated nuclear protein chr16:87982850-88110924 This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Fibrinogen; Menopause; Stroke; Cornea; Tobacco Use Disorder Regulation of TP53 Activity through Association with Co-factors GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0034504;protein localization to nucleus;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BANP https://www.ncbi.nlm.nih.gov/omim/?term=611564 http://www.informatics.jax.org/searchtool/Search.do?query=BANP&submit=Quick%0D%13183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BANP rs8050209 0.454872 0.5439 0.5497 1 0 0 exonic exonic exonic BANP BANP ENSG00000172530 synonymous SNV synonymous SNV unknown BANP:NM_017869:exon11:c.G1245A:p.A415A,BANP:NM_001173539:exon12:c.G1353A:p.A451A,BANP:NM_001173541:exon11:c.G1236A:p.A412A,BANP:NM_001173540:exon12:c.G1329A:p.A443A,BANP:NM_001173542:exon12:c.G1362A:p.A454A,BANP:NM_001173543:exon13:c.G1395A:p.A465A,BANP:NM_079837:exon12:c.G1311A:p.A437A, BANP:uc002fkr.3:exon13:c.G1395A:p.A465A,BANP:uc002fkq.3:exon11:c.G1245A:p.A415A,BANP:uc021tml.1:exon12:c.G1362A:p.A454A,BANP:uc010vow.2:exon12:c.G1353A:p.A451A,BANP:uc002fkp.3:exon12:c.G1311A:p.A437A,BANP:uc002fks.4:exon11:c.G1236A:p.A412A,BANP:uc010vov.2:exon12:c.G1329A:p.A443A, UNKNOWN Het;G>A 1521;53|64 Ref Hom;G>A 2667;1|96 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88278752 88278752 A G snp ncRNA_intronic AC138512.1 rs9921971 0.279153 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101928880(dist=49929),ZNF469(dist=215127) AK126852(dist=144187),ZNF469(dist=215127) ENSG00000261273 Na Na Na Na Na Na Het;A>G 77;4|3 Ref Hom;A>G 172;0|5 N N - 16 8829715 8829715 T C snp intronic ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs1640998 0.343051 0.3483 0.3816 1 0 0 intronic intronic intronic ABAT ABAT ENSG00000183044 Na Na Na Na Na Na Het;T>C 619;30|28 Het;T>C 390;28|20 Hom;T>C 1159;0|44 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88385305 88385305 A G snp intergenic LOC101928880 rs28662859 0.610423 0 0 1 0 0 intergenic intergenic intergenic LOC101928880(dist=156482),ZNF469(dist=108574) AK126852(dist=250740),ZNF469(dist=108574) ENSG00000261273(dist=49188),ENSG00000225614(dist=108574) Na Na Na Na Na Na Het;A>G 126;4|7 Ref Hom;A>G 74;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88555301 88555301 C A snp intronic ZFPM1 Zfpm1 ENSG00000179588 zinc finger protein, FOG family member 1 chr16:88519725-88603424 lung cancer ; bladder cancer; lung cancer; chronic obstructive pulmonary disease Homozygous mutants have poorly vascularized yolk sacs and small, pale livers. Mutants die between embryonic days 10.5 and 12.5 with severe anemia associated with a block in megakaryocyte development. Factors involved in megakaryocyte development and platelet production GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002295;T-helper cell lineage commitment;IC|GO:0003151;outflow tract morphogenesis;IEA|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003192;mitral valve formation;IEA|GO:0003195;tricuspid valve formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0010724;regulation of definitive erythrocyte differentiation;IDA|GO:0030218;erythrocyte differentiation;IEA|GO:0030219;megakaryocyte differentiation;IEA|GO:0030220;platelet formation;IGI|GO:0030851;granulocyte differentiation;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032642;regulation of chemokine production;IEA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035855;megakaryocyte development;IEA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0045403;negative regulation of interleukin-4 biosynthetic process;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060318;definitive erythrocyte differentiation;IEA|GO:0060319;primitive erythrocyte differentiation;IEA|GO:0060377;negative regulation of mast cell differentiation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060413;atrial septum morphogenesis;IEA|GO:0071733;transcriptional activation by promoter-enhancer looping;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA|GO:0017053;transcriptional repressor complex;IDA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFPM1 https://www.ncbi.nlm.nih.gov/omim/?term=601950 http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM1&submit=Quick%0D%14358ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM1 rs34251187 0.334065 0 0 1 0 0 intronic intronic intronic ZFPM1 ZFPM1 ENSG00000179588 Na Na Na Na Na Na Het;C>A 247;2|8 Ref Hom;C>A 290;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88643457 88643457 A G snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs936621 0.866214 0 0 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;A>G 211;15|9 Het;A>G 45;12|3 Hom;A>G 632;0|19 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88644005 88644005 A G snp synonymous SNV A474G K158K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs899728 0.862819 0.8887 0.8917 1 0 0 exonic exonic exonic ZC3H18 ZC3H18 ENSG00000158545 synonymous SNV synonymous SNV unknown ZC3H18:NM_144604:exon2:c.A474G:p.K158K,ZC3H18:NM_001294340:exon2:c.A474G:p.K158K, ZC3H18:uc002fky.3:exon2:c.A474G:p.K158K,ZC3H18:uc021tmm.1:exon2:c.A474G:p.K158K,ZC3H18:uc010vpa.1:exon1:c.A474G:p.K158K,ZC3H18:uc010voz.2:exon2:c.A474G:p.K158K, UNKNOWN Het;A>G 1910;75|80 Het;A>G 1400;65|61 Hom;A>G 3523;0|119 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88664758 88664758 T C snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs3887592 0.407149 0.3866 0.4500 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;T>C 1457;62|66 Ref Hom;T>C 3354;0|125 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88666035 88666035 G A snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs6500481 0.838059 0 0 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;G>A 68;2|3 Ref Hom;G>A 202;0|6 N N - 16 8866908 8866909 CA C indel intronic ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs112721884 0.115615 0 0 1 0 0 intronic intronic intronic ABAT ABAT ENSG00000183044 Na Na Na Na Na Na Het;-A 363;5|12 Het;-A 131;3|5 Hom;-A 397;0|11 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88675177 88675177 A G snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs9932685 0.537939 0 0 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;A>G 65;9|3 Ref Hom;A>G 130;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88675194 88675194 A G snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs9932692 0.870208 0 0 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;A>G 145;9|6 Het;A>G 71;3|3 Hom;A>G 227;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88678038 88678038 C G snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs11647611 0.533147 0 0 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;C>G 361;7|15 Ref Hom;C>G 490;0|16 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88690963 88690963 G A snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs148691727 0.00139776 0.0051 0.0054 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;G>A 239;21|10 Ref Hom;G>A 559;0|21 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88695332 88695332 G C snp intronic ZC3H18 Zc3h18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 rs4782306 0.877796 0 0 1 0 0 intronic intronic intronic ZC3H18 ZC3H18 ENSG00000158545 Na Na Na Na Na Na Het;G>C 149;25|9 Het;G>C 432;14|17 Hom;G>C 616;0|21 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88706330 88706330 C T snp synonymous SNV C444T S148S polar,hydrophilic,neutral polar,hydrophilic,neutral IL17C Il17c ENSG00000124391 interleukin 17C chr16:88704999-88706881 The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008] Meningeal Neoplasms|meningioma; HIV; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Mice homozygous for a reporter allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced psoriasis. Interleukin-17 signaling GO:0006954;inflammatory response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007267;cell-cell signaling;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS GO:0005125;cytokine activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IL17C https://www.uniprot.org/uniprot/Q9P0M4 https://www.ncbi.nlm.nih.gov/omim/?term=604628 http://www.informatics.jax.org/searchtool/Search.do?query=IL17C&submit=Quick%0D%5652ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17C rs11076688 0.0613019 0.0780 0.0967 1 0 0 exonic exonic exonic IL17C IL17C ENSG00000124391 synonymous SNV synonymous SNV unknown IL17C:NM_013278:exon3:c.C444T:p.S148S, IL17C:uc002fla.3:exon3:c.C444T:p.S148S, UNKNOWN Het;C>T 1578;62|71 Ref Hom;C>T 3234;0|116 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88718865 88718865 C T snp UTR3 *68G>A MVD Mvd ENSG00000167508 mevalonate diphosphate decarboxylase chr16:88718343-88729569 The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels Synthesis of Dolichyl-phosphate GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MVD https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603236 http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD rs8854 0.0772764 0 0 1 0 0 UTR3 UTR3 UTR3 MVD(NM_002461:c.*68G>A) MVD(uc002flf.1:c.*68G>A,uc002flg.1:c.*68G>A) ENSG00000167508(ENST00000301012:c.*68G>A) Na Na Na Na Na Na Het;C>T 86;2|4 Ref Hom;C>T 397;0|14 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88719980 88719980 G T snp intronic MVD Mvd ENSG00000167508 mevalonate diphosphate decarboxylase chr16:88718343-88729569 The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels Synthesis of Dolichyl-phosphate GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MVD https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603236 http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD rs8046018 0.0910543 0 0 1 0 0 intronic intronic intronic MVD MVD ENSG00000167508 Na Na Na Na Na Na Het;G>T 37;3|3 Ref Hom;G>T 140;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88721538 88721538 C T snp intronic MVD Mvd ENSG00000167508 mevalonate diphosphate decarboxylase chr16:88718343-88729569 The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels Synthesis of Dolichyl-phosphate GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MVD https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603236 http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD rs4782309 0.0880591 0 0 1 0 0 intronic intronic intronic MVD MVD ENSG00000167508 Na Na Na Na Na Na Het;C>T 461;24|15 Ref Hom;C>T 767;0|24 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88729670 88729670 G T snp upstream MVD Mvd ENSG00000167508 mevalonate diphosphate decarboxylase chr16:88718343-88729569 The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels Synthesis of Dolichyl-phosphate GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MVD https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603236 http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD rs7193657 0.122204 0 0 1 0 0 upstream upstream upstream MVD,SNAI3-AS1 MVD,SNAI3-AS1 ENSG00000167508,ENSG00000260630 Na Na Na Na Na Na Het;G>T 228;9|9 Ref Hom;G>T 394;0|11 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88729821 88729821 G A snp ncRNA_intronic SNAI3-AS1 rs7188384 0.100839 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic SNAI3-AS1 SNAI3-AS1 ENSG00000260630 Na Na Na Na Na Na Het;G>A 1676;55|81 Ref Hom;G>A 2726;4|109 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88729867 88729867 G C snp ncRNA_intronic SNAI3-AS1 rs7202216 0.121206 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic SNAI3-AS1 SNAI3-AS1 ENSG00000260630 Na Na Na Na Na Na Het;G>C 1400;38|63 Ref Hom;G>C 3073;4|74 N N - 16 8873456 8873456 T C snp intronic ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs1079348 0.35004 0.3372 0.3065 1 0 0 intronic intronic intronic ABAT ABAT ENSG00000183044 Na Na Na Na Na Na Het;T>C 880;61|43 Het;T>C 951;60|44 Hom;T>C 2269;0|84 N N - 16 8873493 8873493 C T snp intronic ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs1079349 0.550319 0.4608 0.4702 1 0 0 intronic intronic intronic ABAT ABAT ENSG00000183044 Na Na Na Na Na Na Het;C>T 478;53|25 Het;C>T 862;48|39 Hom;C>T 1712;0|64 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88739978 88739978 T C snp ncRNA_exonic SNAI3-AS1 rs12931849 0.226837 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic SNAI3-AS1 SNAI3-AS1 ENSG00000260630 Na Na Na Na Na Na Het;T>C 726;37|31 Ref Hom;T>C 1617;0|56 N N - 16 8875585 8875585 C T snp UTR3 *298C>T ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs737694 0.0529153 0 0 1 0 0 UTR3 UTR3 UTR3 ABAT(NM_020686:c.*298C>T,NM_000663:c.*298C>T,NM_001127448:c.*298C>T) ABAT(uc002czc.4:c.*298C>T,uc002czd.4:c.*298C>T,uc010buh.3:c.*298C>T,uc010bui.3:c.*298C>T) ENSG00000183044(ENST00000268251:c.*298C>T,ENST00000396600:c.*298C>T) Na Na Na Na Na Na Het;C>T 567;16|21 Het;C>T 587;8|21 Hom;C>T 775;0|24 N N - 16 8875763 8875763 T C snp UTR3 *476T>C ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs1731071 0.390176 0 0 1 0 0 UTR3 UTR3 UTR3 ABAT(NM_020686:c.*476T>C,NM_000663:c.*476T>C,NM_001127448:c.*476T>C) ABAT(uc002czc.4:c.*476T>C,uc002czd.4:c.*476T>C,uc010buh.3:c.*476T>C,uc010bui.3:c.*476T>C) ENSG00000183044(ENST00000268251:c.*476T>C,ENST00000396600:c.*476T>C) Na Na Na Na Na Na Het;T>C 1046;63|50 Het;T>C 1323;68|64 Hom;T>C 2736;0|104 N N - 16 8875858 8875858 A C snp UTR3 *571A>C ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs1641031 0.392772 0 0 1 0 0 UTR3 UTR3 UTR3 ABAT(NM_020686:c.*571A>C,NM_000663:c.*571A>C,NM_001127448:c.*571A>C) ABAT(uc002czc.4:c.*571A>C,uc002czd.4:c.*571A>C,uc010buh.3:c.*571A>C,uc010bui.3:c.*571A>C) ENSG00000183044(ENST00000268251:c.*571A>C,ENST00000396600:c.*571A>C) Na Na Na Na Na Na Het;A>C 986;28|26 Het;A>C 697;38|20 Hom;A>C 2615;0|60 N N - 16 8875861 8875861 A G snp UTR3 *574A>G ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs1641032 0.393171 0 0 1 0 0 UTR3 UTR3 UTR3 ABAT(NM_020686:c.*574A>G,NM_000663:c.*574A>G,NM_001127448:c.*574A>G) ABAT(uc002czc.4:c.*574A>G,uc002czd.4:c.*574A>G,uc010buh.3:c.*574A>G,uc010bui.3:c.*574A>G) ENSG00000183044(ENST00000268251:c.*574A>G,ENST00000396600:c.*574A>G) Na Na Na Na Na Na Het;A>G 986;28|26 Het;A>G 697;38|20 Hom;A>G 2614;0|58 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88763567 88763567 C G snp UTR3 *409G>C RNF166 Rnf166 ENSG00000158717 ring finger protein 166 chr16:88762903-88772829 GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF166 https://www.ncbi.nlm.nih.gov/omim/?term=617178 http://www.informatics.jax.org/searchtool/Search.do?query=RNF166&submit=Quick%0D%10243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF166 rs117229196 0.0403355 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic RNF166(NM_178841:c.*409G>C,NM_001171816:c.*409G>C,NM_001171815:c.*409G>C) RNF166(uc021tmn.1:c.*409G>C,uc021tmo.1:c.*409G>C,uc002flk.3:c.*409G>C) ENSG00000259813 Na Na Na Na Na Na Het;C>G 152;3|7 Ref Hom;C>G 424;0|11 N N - 16 8876788 8876788 A G snp UTR3 *1501A>G ABAT Abat ENSG00000183044 4-aminobutyrate aminotransferase chr16:8768422-8878432 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Autism; Acquired Immunodeficiency Syndrome|Disease Progression; Dyskinesia, Drug-Induced|; Narcolepsy; schizophrenia; Schizophrenia Degradation of GABA GO:0001666;response to hypoxia;IEA|GO:0007568;aging;IEA|GO:0007620;copulation;IEA|GO:0007626;locomotory behavior;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0009449;gamma-aminobutyric acid biosynthetic process;IEA|GO:0009450;gamma-aminobutyric acid catabolic process;NAS|GO:0010039;response to iron ion;IEA|GO:0014053;negative regulation of gamma-aminobutyric acid secretion;IEA|GO:0021549;cerebellum development;IEA|GO:0031652;positive regulation of heat generation;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0033602;negative regulation of dopamine secretion;IEA|GO:0035094;response to nicotine;IEA|GO:0035640;exploration behavior;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045964;positive regulation of dopamine metabolic process;IEA|GO:0048148;behavioral response to cocaine;ISS|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA|GO:0090331;negative regulation of platelet aggregation;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:1902722;positive regulation of prolactin secretion;IEA|GO:1904450;positive regulation of aspartate secretion;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0032144;4-aminobutyrate transaminase complex;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003867;4-aminobutyrate transaminase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0032145;succinate-semialdehyde dehydrogenase binding;ISS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0047298;(S)-3-amino-2-methylpropionate transaminase activity;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABAT https://hpo.jax.org/app/browse/search?q=ABAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137150 http://www.informatics.jax.org/searchtool/Search.do?query=ABAT&submit=Quick%0D%14909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABAT rs17651562 0.0255591 0 0 1 0 0 UTR3 UTR3 UTR3 ABAT(NM_020686:c.*1501A>G,NM_000663:c.*1501A>G,NM_001127448:c.*1501A>G) ABAT(uc002czc.4:c.*1501A>G,uc002czd.4:c.*1501A>G,uc010buh.3:c.*1501A>G,uc010bui.3:c.*1501A>G) ENSG00000183044(ENST00000268251:c.*1501A>G,ENST00000396600:c.*1501A>G) Na Na Na Na Na Na Het;A>G 1115;42|48 Het;A>G 1188;54|55 Hom;A>G 3936;1|125 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88773528 88773528 C A snp UTR5 -2858C>A CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs11641194 0.136581 0.2050 0.2211 1 0 0 intronic intronic UTR5 CTU2 CTU2 ENSG00000174177(ENST00000564921:c.-2858C>A) Na Na Na Na Na Na Het;C>A 1998;68|81 Ref Hom;C>A 3004;0|112 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88776297 88776297 T C snp intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs4390574 0.854034 0.8954 0.8819 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;T>C 802;19|33 Het;T>C 451;12|19 Hom;T>C 847;0|28 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88776499 88776499 G T snp intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs61744010 0.184105 0 0 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;G>T 495;27|18 Ref Hom;G>T 1096;0|34 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88777995 88777995 C T snp intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs11076704 0.183706 0.3203 0.3310 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;C>T 553;16|24 Ref Hom;C>T 720;0|26 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88778133 88778133 C A snp intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs2879902 0.607827 0.5982 0.6412 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;C>A 471;17|20 Ref Hom;C>A 1086;0|39 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88778422 88778437 GGTGAGCGGGGGCCCA G indel intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs202238363 0.142173 0 0.4851 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;-GTGAGCGGGGGCCCA 1007;44|28 Ref Hom;-GTGAGCGGGGGCCCA 1531;0|36 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88778615 88778615 G A snp nonsynonymous SNV G490A V164M aliphatic,hydrophobic,neutral hydrophobic,neutral CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs7205989 0.576278 0 0.6018 0.14 1 7 intronic exonic exonic CTU2 CTU2 ENSG00000174177 Na nonsynonymous SNV unknown Na CTU2:uc010chz.3:exon6:c.G490A:p.V164M, UNKNOWN Het;G>A 1801;80|79 Ref Hom;G>A 3554;1|129 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88778831 88778831 C T snp intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs7201610 0.185104 0.3200 0.3937 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;C>T 952;33|40 Ref Hom;C>T 1556;0|57 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88779949 88779949 C T snp intronic CTU2 Ctu2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 rs576207120 0.00119808 0 0 1 0 0 intronic intronic intronic CTU2 CTU2 ENSG00000174177 Na Na Na Na Na Na Het;C>T 816;13|30 Ref Hom;C>T 1235;0|28 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88785924 88785924 C G snp ncRNA_exonic AC138028.4 rs373098455 0.000798722 0 0 1 0 0 intronic intronic ncRNA_exonic PIEZO1 PIEZO1 ENSG00000260121 Na Na Na Na Na Na Het;C>G 354;6|10 Ref Hom;C>G 578;0|16 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88792154 88792154 C A snp intronic PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 Na 0 0 0 1 0 0 intronic intronic intronic PIEZO1 PIEZO1 ENSG00000103335 Na Na Na Na Na Na Het;C>A 583;34|27 Ref Hom;C>A 1589;0|57 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88793068 88793068 T TCAGCGGGGC indel intronic PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 rs143054492 0.185104 0.1681 0.2567 1 0 0 intronic intronic intronic PIEZO1 PIEZO1 ENSG00000103335 Na Na Na Na Na Na Het;+CAGCGGGGC 1135;47|30 Ref Hom;+CAGCGGGGC 2852;0|62 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88793858 88793858 C T snp intronic PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 rs2242170 0.527157 0 0 1 0 0 intronic intronic intronic PIEZO1 PIEZO1 ENSG00000103335 Na Na Na Na Na Na Het;C>T 375;11|15 Ref Hom;C>T 401;0|12 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88793910 88793910 C T snp intronic PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 rs2242171 0.645367 0 0 1 0 0 intronic intronic intronic PIEZO1 PIEZO1 ENSG00000103335 Na Na Na Na Na Na Het;C>T 436;18|19 Ref Hom;C>T 831;0|30 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88799238 88799238 T C snp ncRNA_intronic AK294743 rs3214053 0.692891 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100289580 AK294743 ENSG00000224888 Na Na Na Na Na Na Het;T>C 212;8|8 Ref Hom;T>C 525;0|17 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88799338 88799338 G A snp ncRNA_intronic AK294743 rs6500492 0.656749 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100289580 AK294743 ENSG00000224888 Na Na Na Na Na Na Het;G>A 74;6|4 Ref Hom;G>A 120;0|6 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88800060 88800060 C T snp nonsynonymous SNV G2423A R808Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 rs202103485 0.000798722 0 0.0026 0.62 8 13 exonic exonic exonic PIEZO1 PIEZO1 ENSG00000103335 nonsynonymous SNV nonsynonymous SNV unknown PIEZO1:NM_001142864:exon18:c.G2423A:p.R808Q, PIEZO1:uc010vpb.2:exon18:c.G2423A:p.R808Q,PIEZO1:uc010cib.3:exon7:c.G1034A:p.R345Q, UNKNOWN Het;C>T 2249;90|100 Ref Hom;C>T 4310;1|157 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88800139 88800139 C T snp nonsynonymous SNV G2344A G782S aliphatic,neutral polar,hydrophilic,neutral PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 rs200970763 0.000798722 0 0.0033 0.62 8 13 exonic exonic exonic PIEZO1 PIEZO1 ENSG00000103335 nonsynonymous SNV nonsynonymous SNV unknown PIEZO1:NM_001142864:exon18:c.G2344A:p.G782S, PIEZO1:uc010vpb.2:exon18:c.G2344A:p.G782S,PIEZO1:uc010cib.3:exon7:c.G955A:p.G319S, UNKNOWN Het;C>T 1388;56|61 Ref Hom;C>T 2974;0|107 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88800295 88800295 C T snp ncRNA_intronic AK294743 rs2306050 0.286542 0.1951 0.2841 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100289580 AK294743 ENSG00000224888 Na Na Na Na Na Na Het;C>T 633;34|27 Ref Hom;C>T 2154;0|79 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88800610 88800610 G T snp ncRNA_intronic AK294743 rs79319346 0.173922 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100289580 AK294743 ENSG00000224888 Na Na Na Na Na Na Het;G>T 209;4|7 Ref Hom;G>T 328;0|10 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88802473 88802473 C T snp ncRNA_intronic AK294743 rs76354120 0.15655 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100289580 AK294743 ENSG00000224888 Na Na Na Na Na Na Het;C>T 227;18|9 Ref Hom;C>T 278;0|10 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88803124 88803124 T C snp nonsynonymous SNV A1219G R407G polar,hydrophilic,charged(+) aliphatic,neutral PIEZO1 Piezo1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 rs13333358 0.430312 0.3507 0.3243 0.17 2 12 exonic exonic exonic PIEZO1 PIEZO1 ENSG00000103335 nonsynonymous SNV nonsynonymous SNV unknown PIEZO1:NM_001142864:exon11:c.A1219G:p.R407G, PIEZO1:uc010vpb.2:exon11:c.A1219G:p.R407G, UNKNOWN Het;T>C 509;17|26 Het;T>C 354;14|17 Hom;T>C 826;0|30 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88810659 88810659 T C snp ncRNA_exonic LOC339059 rs62048195 0.143171 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC339059 FLJ40448 ENSG00000182376 Na Na Na Na Na Na Het;T>C 2207;114|95 Ref Hom;T>C 4948;0|183 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88872229 88872229 A G snp nonsynonymous SNV A784G T262A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CDT1 Cdt1 ENSG00000167513 chromatin licensing and DNA replication factor 1 chr16:88869621-88875666 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] breast cancer Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. Removal of licensing factors from origins GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDT1 https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605525 http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1 rs480727 0.571286 0.4955 0.4442 0.08 1 13 exonic exonic exonic CDT1 CDT1 ENSG00000167513 nonsynonymous SNV nonsynonymous SNV unknown CDT1:NM_030928:exon5:c.A784G:p.T262A, CDT1:uc002flu.3:exon5:c.A784G:p.T262A, UNKNOWN Het;A>G 1790;98|77 Het;A>G 1740;65|80 Hom;A>G 4344;0|146 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88874555 88874555 G C snp nonsynonymous SNV G1510C E504Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral CDT1 Cdt1 ENSG00000167513 chromatin licensing and DNA replication factor 1 chr16:88869621-88875666 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] breast cancer Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. Removal of licensing factors from origins GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDT1 https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605525 http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1 rs548414653 0 0 4.521e-05 0.38 5 13 exonic exonic exonic CDT1 CDT1 ENSG00000167513 nonsynonymous SNV nonsynonymous SNV unknown CDT1:NM_030928:exon10:c.G1510C:p.E504Q, CDT1:uc002flu.3:exon10:c.G1510C:p.E504Q, UNKNOWN Het;G>C 2556;110|107 Ref Hom;G>C 4710;4|171 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88874632 88874632 C G snp synonymous SNV C1587G L529L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDT1 Cdt1 ENSG00000167513 chromatin licensing and DNA replication factor 1 chr16:88869621-88875666 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] breast cancer Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. Removal of licensing factors from origins GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDT1 https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605525 http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1 rs572275 0.552716 0.4832 0.4737 1 0 0 exonic exonic exonic CDT1 CDT1 ENSG00000167513 synonymous SNV synonymous SNV unknown CDT1:NM_030928:exon10:c.C1587G:p.L529L, CDT1:uc002flu.3:exon10:c.C1587G:p.L529L, UNKNOWN Het;C>G 3016;115|135 Ref Hom;C>G 5629;2|211 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88874778 88874778 C T snp UTR3 *92C>T CDT1 Cdt1 ENSG00000167513 chromatin licensing and DNA replication factor 1 chr16:88869621-88875666 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] breast cancer Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. Removal of licensing factors from origins GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDT1 https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605525 http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1 rs15829 0.509784 0 0 1 0 0 UTR3 UTR3 UTR3 CDT1(NM_030928:c.*92C>T) CDT1(uc002flu.3:c.*92C>T) ENSG00000167513(ENST00000301019:c.*92C>T) Na Na Na Na Na Na Het;C>T 430;18|15 Ref Hom;C>T 251;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88876666 88876666 C G snp intronic APRT Aprt ENSG00000198931 adenine phosphoribosyltransferase chr16:88875747-88878352 Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Adenine phosphoribosyltransferase deficiency Most homozygous null mutants may die by 6 months of age with highly abnormal kidney morphology and kidney tubule obstructions depending on the genetic background. Mice have elevated urinary 2,8-hydroxyadenine and crystalline deposits in kidney. Severity varies by genetic background. Purine salvage GO:0006166;purine ribonucleoside salvage;IEA|GO:0006168;adenine salvage;IEA|GO:0007595;lactation;IEA|GO:0007625;grooming behavior;IEA|GO:0009116;nucleoside metabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0044209;AMP salvage;IEA|GO:0046083;adenine metabolic process;IEA GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0002055;adenine binding;IEA|GO:0003999;adenine phosphoribosyltransferase activity;TAS|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/APRT https://hpo.jax.org/app/browse/search?q=APRT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102600 http://www.informatics.jax.org/searchtool/Search.do?query=APRT&submit=Quick%0D%17086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APRT rs8191489 0.263179 0 0 1 0 0 intronic intronic intronic APRT APRT ENSG00000198931 Na Na Na Na Na Na Het;C>G 467;19|14 Ref Hom;C>G 1072;2|29 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88880146 88880146 G C snp UTR3 *701C>G GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs77936719 0.261182 0 0 1 0 0 UTR3 UTR3 UTR3 GALNS(NM_000512:c.*701C>G) GALNS(uc002fly.4:c.*701C>G,uc010cid.3:c.*701C>G,uc002flz.4:c.*701C>G) ENSG00000141012(ENST00000268695:c.*701C>G,ENST00000542788:c.*701C>G,ENST00000567525:c.*1741C>G) Na Na Na Na Na Na Het;G>C 112;5|4 Het;G>C 121;3|5 Hom;G>C 171;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88880195 88880195 T C snp UTR3 *652A>G GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs1135366 0.280351 0 0 1 0 0 UTR3 UTR3 UTR3 GALNS(NM_000512:c.*652A>G) GALNS(uc002fly.4:c.*652A>G,uc010cid.3:c.*652A>G,uc002flz.4:c.*652A>G) ENSG00000141012(ENST00000268695:c.*652A>G,ENST00000542788:c.*652A>G,ENST00000567525:c.*1692A>G) Na Na Na Na Na Na Het;T>C 203;20|11 Het;T>C 267;7|9 Hom;T>C 567;0|19 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88880236 88880236 T C snp UTR3 *611A>G GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs1135364 0.314097 0 0 1 0 0 UTR3 UTR3 UTR3 GALNS(NM_000512:c.*611A>G) GALNS(uc002fly.4:c.*611A>G,uc010cid.3:c.*611A>G,uc002flz.4:c.*611A>G) ENSG00000141012(ENST00000268695:c.*611A>G,ENST00000542788:c.*611A>G,ENST00000567525:c.*1651A>G) Na Na Na Na Na Na Het;T>C 279;38|18 Het;T>C 647;19|30 Hom;T>C 1398;0|49 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88880480 88880480 A G snp UTR3 *367T>C GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs1141390 0.38778 0 0 1 0 0 UTR3 UTR3 UTR3 GALNS(NM_000512:c.*367T>C) GALNS(uc002fly.4:c.*367T>C,uc010cid.3:c.*367T>C,uc002flz.4:c.*367T>C) ENSG00000141012(ENST00000268695:c.*367T>C,ENST00000542788:c.*367T>C,ENST00000567525:c.*1407T>C) Na Na Na Na Na Na Het;A>G 361;14|14 Het;A>G 230;8|10 Hom;A>G 406;0|13 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88880811 88880811 C T snp UTR3 *36G>A GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs11076715 0.285743 0.2139 0.2549 1 0 0 UTR3 UTR3 UTR3 GALNS(NM_000512:c.*36G>A) GALNS(uc002fly.4:c.*36G>A,uc010cid.3:c.*36G>A,uc002flz.4:c.*36G>A) ENSG00000141012(ENST00000268695:c.*36G>A,ENST00000542788:c.*36G>A,ENST00000567525:c.*1076G>A,ENST00000568613:c.*1568G>A) Na Na Na Na Na Na Het;C>T 1107;42|48 Het;C>T 739;43|30 Hom;C>T 1151;2|42 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88880965 88880965 C G snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs11076716 0.251597 0.1670 0.2171 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;C>G 648;32|27 Ref Hom;C>G 1058;0|39 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88884466 88884466 C T snp synonymous SNV G1431A E477E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs2303271 0.474241 0.3991 0.4829 1 0 0 exonic exonic exonic GALNS GALNS ENSG00000141012 synonymous SNV synonymous SNV unknown GALNS:NM_000512:exon13:c.G1431A:p.E477E, GALNS:uc002flz.4:exon11:c.G480A:p.E160E,GALNS:uc002fly.4:exon13:c.G1431A:p.E477E,GALNS:uc010cid.3:exon14:c.G1449A:p.E483E, UNKNOWN Het;C>T 2114;112|95 Het;C>T 1432;80|67 Hom;C>T 4517;0|168 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88891026 88891026 C T snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs747232 0.449481 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;C>T 297;24|11 Het;C>T 338;9|12 Hom;C>T 730;0|20 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88893013 88893013 C G snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs3859024 0.404153 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;C>G 201;18|8 Het;C>G 331;13|17 Hom;C>G 845;0|30 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88893416 88893416 A G snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs3743546 0.427117 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;A>G 69;7|3 Het;A>G 198;4|7 Hom;A>G 271;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88901850 88901850 T A snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs11076721 0.453075 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;T>A 194;4|8 Het;T>A 129;7|6 Hom;T>A 233;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902183 88902183 G A snp synonymous SNV C708T H236H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs1064315 0.316693 0.2405 0.2764 1 0 0 exonic exonic exonic GALNS GALNS ENSG00000141012 synonymous SNV synonymous SNV unknown GALNS:NM_000512:exon7:c.C708T:p.H236H, GALNS:uc002fly.4:exon7:c.C708T:p.H236H,GALNS:uc010cid.3:exon8:c.C726T:p.H242H, UNKNOWN Het;G>A 1109;78|53 Ref Hom;G>A 2858;0|104 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902276 88902276 C T snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs12934499 0.276757 0.1988 0.2643 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;C>T 1161;59|55 Ref Hom;C>T 1890;2|66 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902471 88902471 G T snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs2269335 0.453674 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;G>T 975;29|26 Het;G>T 1461;33|37 Hom;G>T 2690;0|64 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902484 88902484 T C snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs2269334 0.460064 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;T>C 1118;35|28 Het;T>C 1504;36|37 Hom;T>C 3966;0|87 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902518 88902518 A G snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs2269333 0.407149 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;A>G 1399;48|47 Het;A>G 1465;52|47 Hom;A>G 4259;0|108 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902780 88902780 A G snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs12444543 0.357228 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;A>G 249;7|8 Het;A>G 141;4|5 Hom;A>G 382;0|12 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902820 88902820 T C snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs11076722 0.315096 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;T>C 212;4|6 Ref Hom;T>C 323;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88902823 88902823 G T snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs11076723 0.314696 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;G>T 212;4|6 Ref Hom;G>T 323;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88903896 88903896 C T snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs3784883 0.328674 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;C>T 67;8|4 Ref Hom;C>T 247;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88909028 88909028 C T snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs71395332 0.273363 0 0 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;C>T 267;5|9 Ref Hom;C>T 287;0|10 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88909095 88909095 G A snp intronic GALNS Galns ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS rs35137494 0.109625 0.1429 0.1551 1 0 0 intronic intronic intronic GALNS GALNS ENSG00000141012 Na Na Na Na Na Na Het;G>A 461;29|24 Ref Hom;G>A 1032;0|37 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88927044 88927044 A G snp UTR3 *312A>G TRAPPC2L Trappc2l ENSG00000167515 trafficking protein particle complex 2 like chr16:88922628-88929094 This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610970 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L rs28656031 0.419928 0 0 1 0 0 intronic intronic UTR3 TRAPPC2L TRAPPC2L ENSG00000167515(ENST00000565504:c.*312A>G) Na Na Na Na Na Na Het;A>G 104;3|5 Ref Hom;A>G 181;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88927221 88927221 T C snp UTR3 *489T>C TRAPPC2L Trappc2l ENSG00000167515 trafficking protein particle complex 2 like chr16:88922628-88929094 This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610970 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L rs3826061 0.434105 0 0 1 0 0 intronic intronic UTR3 TRAPPC2L TRAPPC2L ENSG00000167515(ENST00000565504:c.*489T>C) Na Na Na Na Na Na Het;T>C 611;12|18 Ref Hom;T>C 770;0|19 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88928290 88928290 A G snp UTR3 *923A>G TRAPPC2L Trappc2l ENSG00000167515 trafficking protein particle complex 2 like chr16:88922628-88929094 This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610970 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L rs12597391 0.309704 0 0 1 0 0 downstream intronic UTR3 TRAPPC2L PABPN1L ENSG00000167515(ENST00000301021:c.*923A>G,ENST00000565504:c.*1558A>G) Na Na Na Na Na Na Het;A>G 1611;90|70 Ref Hom;A>G 3163;0|117 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88928417 88928417 C T snp UTR3 *1050C>T TRAPPC2L Trappc2l ENSG00000167515 trafficking protein particle complex 2 like chr16:88922628-88929094 This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610970 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L rs12596491 0.429513 0 0 1 0 0 downstream intronic UTR3 TRAPPC2L PABPN1L ENSG00000167515(ENST00000301021:c.*1050C>T,ENST00000565504:c.*1685C>T) Na Na Na Na Na Na Het;C>T 2684;120|120 Ref Hom;C>T 4896;0|183 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88928961 88928961 C CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG indel UTR3 *1594C>CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG TRAPPC2L Trappc2l ENSG00000167515 trafficking protein particle complex 2 like chr16:88922628-88929094 This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610970 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L rs71158762 0.330072 0 0 1 0 0 downstream intronic UTR3 PABPN1L PABPN1L ENSG00000167515(ENST00000301021:c.*1594C>CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG,ENST00000565504:c.*2229C>CCTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG) Na Na Na Na Na Na Het;+CTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG 2200;88|44 Ref Hom;+CTGGGCCTTTGCTGACGCAGAACGCGGGAAGGACG 4620;6|124 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88929207 88929207 T C snp downstream PABPN1L Pabpn1l ENSG00000205022 poly(A) binding protein nuclear 1 like, cytoplasmic chr16:88928034-88933068 GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L rs12921479 0.424321 0 0 1 0 0 downstream intronic intronic PABPN1L PABPN1L ENSG00000205022 Na Na Na Na Na Na Het;T>C 390;9|14 Ref Hom;T>C 471;0|16 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88930840 88930840 T C snp intronic PABPN1L Pabpn1l ENSG00000205022 poly(A) binding protein nuclear 1 like, cytoplasmic chr16:88928034-88933068 GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L rs12927622 0.00159744 0 0 1 0 0 intronic intronic intronic PABPN1L PABPN1L ENSG00000205022 Na Na Na Na Na Na Het;T>C 975;39|45 Ref Hom;T>C 1285;0|44 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88931052 88931054 CGA C indel intronic PABPN1L Pabpn1l ENSG00000205022 poly(A) binding protein nuclear 1 like, cytoplasmic chr16:88928034-88933068 GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L rs201090341 0.0127796 0 0 1 0 0 intronic intronic intronic PABPN1L PABPN1L ENSG00000205022 Na Na Na Na Na Na Het;-GA 33;4|2 Ref Hom;-GA 183;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88931363 88931363 A AGGGAG indel intronic PABPN1L Pabpn1l ENSG00000205022 poly(A) binding protein nuclear 1 like, cytoplasmic chr16:88928034-88933068 GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L rs141563331 0 0.4440 0.3966 1 0 0 intronic intronic intronic PABPN1L PABPN1L ENSG00000205022 Na Na Na Na Na Na Het;+GGGAG 1003;62|25 Ref Hom;+GGGAG 1293;3|37 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 88931914 88931914 T C snp intronic PABPN1L Pabpn1l ENSG00000205022 poly(A) binding protein nuclear 1 like, cytoplasmic chr16:88928034-88933068 GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L rs889753 0.522564 0 0 1 0 0 intronic intronic intronic PABPN1L PABPN1L ENSG00000205022 Na Na Na Na Na Na Het;T>C 1124;50|50 Ref Hom;T>C 1622;0|57 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89017334 89017334 C T snp nonsynonymous SNV C808T R270W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral LOC100129697 rs28617399 0 0 0.4271 1 0 0 exonic intronic exonic LOC100129697 CBFA2T3 ENSG00000205018 nonsynonymous SNV Na unknown LOC100129697:NM_001290330:exon2:c.C808T:p.R270W, Na UNKNOWN Het;C>T 232;3|9 Ref Hom;C>T 189;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89160329 89160329 C G snp UTR5 -6761C>G ACSF3 Acsf3 ENSG00000176715 acyl-CoA synthetase family member 3 chr16:89154783-89222254 This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Hemoglobin A, Glycosylated Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0006633;fatty acid biosynthetic process;IDA|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0090410;malonate catabolic process;IDA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016878;acid-thiol ligase activity;IDA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0090409;malonyl-CoA synthetase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACSF3 https://hpo.jax.org/app/browse/search?q=ACSF3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614245 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF3&submit=Quick%0D%13899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF3 rs145228567 0.163538 0 0.2011 1 0 0 UTR5 UTR5 UTR5 ACSF3(NM_001243279:c.-6761C>G,NM_001127214:c.-6761C>G,NM_174917:c.-6761C>G,NM_001284316:c.-8812C>G) ACSF3(uc021tmq.1:c.-6761C>G,uc002fmp.3:c.-6761C>G,uc010cig.2:c.-6761C>G,uc010cih.2:c.-8812C>G) ENSG00000176715(ENST00000317447:c.-6761C>G,ENST00000537290:c.-6761C>G,ENST00000540697:c.-8812C>G,ENST00000406948:c.-6761C>G,ENST00000378345:c.-8812C>G,ENST00000541755:c.-6761C>G) Na Na Na Na Na Na Het;C>G 144;9|8 Ref Hom;C>G 527;0|20 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89262431 89262431 G A snp synonymous SNV C993T A331A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC22A31 ENSG00000259803 solute carrier family 22 member 31 chr16:89262406-89268072 GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A31 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A31&submit=Quick%0D%20352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A31 rs2287353 0.132588 0 0.2302 1 0 0 exonic exonic exonic SLC22A31 SLC22A31 ENSG00000259803 synonymous SNV synonymous SNV unknown SLC22A31:NM_001242757:exon8:c.C993T:p.A331A, SLC22A31:uc021tmr.1:exon8:c.C993T:p.A331A, UNKNOWN Het;G>A 690;29|29 Ref Hom;G>A 1193;1|44 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89284083 89284083 C G snp upstream ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs3803723 0.771366 0 0 1 0 0 upstream upstream upstream ZNF778 ZNF778 ENSG00000170100,ENSG00000259877 Na Na Na Na Na Na Het;C>G 70;7|4 Het;C>G 112;7|5 Hom;C>G 602;0|14 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89287613 89287615 CAG C indel intronic ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs10586525 0.754393 0.7957 0 1 0 0 intronic intronic intronic ZNF778 ZNF778 ENSG00000170100 Na Na Na Na Na Na Het;-AG 753;28|23 Het;-AG 1115;23|31 Hom;-AG 1231;0|31 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89288418 89288418 A G snp intronic ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs9931258 0.753594 0 0 1 0 0 intronic intronic intronic ZNF778 ZNF778 ENSG00000170100 Na Na Na Na Na Na Het;A>G 306;16|11 Het;A>G 410;7|15 Hom;A>G 1045;0|28 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89291210 89291210 G GGTGA indel frameshift substitution 118_118delinsGGTGA ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs10625512 0.750998 0 0.8138 1 0 0 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 frameshift substitution frameshift substitution unknown ZNF778:NM_001201407:exon5:c.328_328delinsGGTGA, ZNF778:uc002fmw.2:exon3:c.118_118delinsGGTGA,ZNF778:uc021tms.1:exon5:c.328_328delinsGGTGA, UNKNOWN Het;+GTGA 672;23|20 Het;+GTGA 666;10|17 Hom;+GTGA 1818;0|42 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89291945 89291945 A AT indel intronic ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs11464538 0.766973 0 0.8449 1 0 0 intronic intronic intronic ZNF778 ZNF778 ENSG00000170100 Na Na Na Na Na Na Het;+T 146;9|5 Ref Hom;+T 368;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89291948 89291948 C T snp intronic ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs12926996 0.769768 0 0.8662 1 0 0 intronic intronic intronic ZNF778 ZNF778 ENSG00000170100 Na Na Na Na Na Na Het;C>T 152;9|5 Het;C>T 246;7|6 Hom;C>T 377;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89291951 89291951 C T snp intronic ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs12926997 0.769768 0 0.8663 1 0 0 intronic intronic intronic ZNF778 ZNF778 ENSG00000170100 Na Na Na Na Na Na Het;C>T 152;10|5 Het;C>T 246;7|8 Hom;C>T 377;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89293271 89293271 A C snp nonsynonymous SNV A491C K164T polar,hydrophilic,charged(+) polar,hydrophilic,neutral ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs28417933 0.59405 0.7267 0.7686 0.17 2 12 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 nonsynonymous SNV nonsynonymous SNV unknown ZNF778:NM_001201407:exon7:c.A575C:p.K192T,ZNF778:NM_182531:exon6:c.A491C:p.K164T, ZNF778:uc002fmv.3:exon6:c.A491C:p.K164T,ZNF778:uc002fmw.2:exon5:c.A365C:p.K122T,ZNF778:uc021tms.1:exon7:c.A575C:p.K192T, UNKNOWN Het;A>C 2871;132|119 Het;A>C 3278;116|135 Hom;A>C 6480;0|232 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89293614 89293614 A G snp synonymous SNV A918G E306E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs4785626 0.770168 0.8190 0.8687 1 0 0 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 synonymous SNV synonymous SNV unknown ZNF778:NM_001201407:exon7:c.A918G:p.E306E,ZNF778:NM_182531:exon6:c.A834G:p.E278E, ZNF778:uc002fmv.3:exon6:c.A834G:p.E278E,ZNF778:uc002fmw.2:exon5:c.A708G:p.E236E,ZNF778:uc010vpg.2:exon6:c.A123G:p.E41E,ZNF778:uc021tms.1:exon7:c.A918G:p.E306E, UNKNOWN Het;A>G 1794;80|74 Het;A>G 1302;79|60 Hom;A>G 3269;0|113 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89294184 89294184 G A snp synonymous SNV G1488A A496A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs4785627 0.76877 0.8064 0.8668 1 0 0 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 synonymous SNV synonymous SNV unknown ZNF778:NM_001201407:exon7:c.G1488A:p.A496A,ZNF778:NM_182531:exon6:c.G1404A:p.A468A, ZNF778:uc002fmv.3:exon6:c.G1404A:p.A468A,ZNF778:uc002fmw.2:exon5:c.G1278A:p.A426A,ZNF778:uc010vpg.2:exon6:c.G693A:p.A231A,ZNF778:uc021tms.1:exon7:c.G1488A:p.A496A, UNKNOWN Het;G>A 858;28|28 Het;G>A 617;21|24 Hom;G>A 1287;0|37 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89294381 89294381 T C snp nonsynonymous SNV T1601C I534T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs28415940 0.701078 0.7822 0.8086 0.08 1 12 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 nonsynonymous SNV nonsynonymous SNV unknown ZNF778:NM_001201407:exon7:c.T1685C:p.I562T,ZNF778:NM_182531:exon6:c.T1601C:p.I534T, ZNF778:uc002fmv.3:exon6:c.T1601C:p.I534T,ZNF778:uc002fmw.2:exon5:c.T1475C:p.I492T,ZNF778:uc010vpg.2:exon6:c.T890C:p.I297T,ZNF778:uc021tms.1:exon7:c.T1685C:p.I562T, UNKNOWN Het;T>C 1592;60|65 Het;T>C 1081;62|50 Hom;T>C 4188;0|156 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89294439 89294439 G T snp nonsynonymous SNV G1659T Q553H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs9921361 0.698083 0.7807 0.8071 0.17 2 12 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 nonsynonymous SNV nonsynonymous SNV unknown ZNF778:NM_001201407:exon7:c.G1743T:p.Q581H,ZNF778:NM_182531:exon6:c.G1659T:p.Q553H, ZNF778:uc002fmv.3:exon6:c.G1659T:p.Q553H,ZNF778:uc002fmw.2:exon5:c.G1533T:p.Q511H,ZNF778:uc010vpg.2:exon6:c.G948T:p.Q316H,ZNF778:uc021tms.1:exon7:c.G1743T:p.Q581H, UNKNOWN Het;G>T 1016;37|43 Het;G>T 774;37|35 Hom;G>T 2342;0|85 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89294511 89294511 C T snp synonymous SNV C1815T T605T polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs28638280 0.76857 0.8067 0.8672 1 0 0 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 synonymous SNV synonymous SNV unknown ZNF778:NM_001201407:exon7:c.C1815T:p.T605T,ZNF778:NM_182531:exon6:c.C1731T:p.T577T, ZNF778:uc002fmv.3:exon6:c.C1731T:p.T577T,ZNF778:uc002fmw.2:exon5:c.C1605T:p.T535T,ZNF778:uc010vpg.2:exon6:c.C1020T:p.T340T,ZNF778:uc021tms.1:exon7:c.C1815T:p.T605T, UNKNOWN Het;C>T 279;6|9 Het;C>T 255;8|10 Hom;C>T 551;0|17 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89294595 89294595 C T snp synonymous SNV C1899T I633I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs74466939 0.16234 0.1091 0.1478 1 0 0 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 synonymous SNV synonymous SNV unknown ZNF778:NM_001201407:exon7:c.C1899T:p.I633I,ZNF778:NM_182531:exon6:c.C1815T:p.I605I, ZNF778:uc002fmv.3:exon6:c.C1815T:p.I605I,ZNF778:uc002fmw.2:exon5:c.C1689T:p.I563I,ZNF778:uc010vpg.2:exon6:c.C1104T:p.I368I,ZNF778:uc021tms.1:exon7:c.C1899T:p.I633I, UNKNOWN Het;C>T 87;10|4 Ref Hom;C>T 248;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89294697 89294697 C T snp synonymous SNV C2001T H667H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ZNF778 Zfp26 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 rs60437616 0.700479 0.7751 0.8083 1 0 0 exonic exonic exonic ZNF778 ZNF778 ENSG00000170100 synonymous SNV synonymous SNV unknown ZNF778:NM_001201407:exon7:c.C2001T:p.H667H,ZNF778:NM_182531:exon6:c.C1917T:p.H639H, ZNF778:uc002fmv.3:exon6:c.C1917T:p.H639H,ZNF778:uc002fmw.2:exon5:c.C1791T:p.H597H,ZNF778:uc010vpg.2:exon6:c.C1206T:p.H402H,ZNF778:uc021tms.1:exon7:c.C2001T:p.H667H, UNKNOWN Het;C>T 465;34|22 Het;C>T 615;11|27 Hom;C>T 1242;0|46 N N - 16 8943198 8943198 C G snp ncRNA_exonic AC022167.2 rs74008088 0.0397364 0 0 1 0 0 downstream downstream ncRNA_exonic PMM2 PMM2 ENSG00000260276 Na Na Na Na Na Na Het;C>G 514;24|25 Het;C>G 344;17|18 Hom;C>G 1007;2|40 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89652912 89652912 G A snp intronic CPNE7 Cpne7 ENSG00000178773 copine 7 chr16:89642176-89663654 This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Suntan; Pancreatic Neoplasms; Heart Failure Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPNE7 https://www.ncbi.nlm.nih.gov/omim/?term=605689 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7 rs368927912 0 0 0 1 0 0 intronic intronic intronic CPNE7 CPNE7 ENSG00000178773 Na Na Na Na Na Na Het;G>A 42;3|3 Ref Hom;G>A 196;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89653540 89653543 CCCT C indel intronic CPNE7 Cpne7 ENSG00000178773 copine 7 chr16:89642176-89663654 This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Suntan; Pancreatic Neoplasms; Heart Failure Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPNE7 https://www.ncbi.nlm.nih.gov/omim/?term=605689 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7 rs758071271 0 0 0.1199 1 0 0 intronic intronic intronic CPNE7 CPNE7 ENSG00000178773 Na Na Na Na Na Na Het;-CCT 242;14|9 Het;-CCT 571;8|16 Hom;-CCT 1099;0|27 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89653545 89653550 AGTCCG A indel intronic CPNE7 Cpne7 ENSG00000178773 copine 7 chr16:89642176-89663654 This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Suntan; Pancreatic Neoplasms; Heart Failure Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPNE7 https://www.ncbi.nlm.nih.gov/omim/?term=605689 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7 rs746278860 0 0 0.1677 1 0 0 intronic intronic intronic CPNE7 CPNE7 ENSG00000178773 Na Na Na Na Na Na Het;-GTCCG 242;14|9 Het;-GTCCG 571;8|16 Hom;-GTCCG 1118;0|27 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89653552 89653565 GGCCCCGCCCCGCC G indel intronic CPNE7 Cpne7 ENSG00000178773 copine 7 chr16:89642176-89663654 This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Suntan; Pancreatic Neoplasms; Heart Failure Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPNE7 https://www.ncbi.nlm.nih.gov/omim/?term=605689 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7 rs780672482 0 0 0.1875 1 0 0 intronic intronic intronic CPNE7 CPNE7 ENSG00000178773 Na Na Na Na Na Na Het;-GCCCCGCCCCGCC 242;14|9 Het;-GCCCCGCCCCGCC 552;7|14 Hom;-GCCCCGCCCCGCC 1017;0|24 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89703797 89703797 C T snp intronic DPEP1 Dpep1 ENSG00000015413 dipeptidase 1 (renal) chr16:89679716-89704839 The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012] homocysteine Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. Aflatoxin activation and detoxification GO:0006508;proteolysis;IEA|GO:0006691;leukotriene metabolic process;TAS|GO:0006749;glutathione metabolic process;TAS|GO:0006805;xenobiotic metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0016999;antibiotic metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0035690;cellular response to drug;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0050667;homocysteine metabolic process;IDA|GO:0071277;cellular response to calcium ion;ISS|GO:0071732;cellular response to nitric oxide;ISS|GO:0072340;cellular lactam catabolic process;TAS GO:0005615;extracellular space;ISS|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0031225;anchored component of membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;TAS|GO:0008237;metallopeptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;IEA|GO:0034235;GPI anchor binding;ISS|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IMP|GO:0046872;metal ion binding;IEA|GO:0070573;metallodipeptidase activity;IDA|GO:0072341;modified amino acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DPEP1 https://www.uniprot.org/uniprot/P16444 https://www.ncbi.nlm.nih.gov/omim/?term=179780 http://www.informatics.jax.org/searchtool/Search.do?query=DPEP1&submit=Quick%0D%618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPEP1 rs34422500 0.0567093 0.0953 0.0976 1 0 0 intronic intronic intronic DPEP1 DPEP1 ENSG00000015413 Na Na Na Na Na Na Het;C>T 2533;109|107 Ref Hom;C>T 5678;1|207 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89715540 89715605 TCCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTC T indel intronic CHMP1A Chmp1a ENSG00000131165 charged multivesicular body protein 1A chr16:89710839-89724253 This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Pontocerebellar hypoplasia and microcephaly GO:0000920;cell separation after cytokinesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016458;gene silencing;IDA|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;NAS|GO:0045014;negative regulation of transcription by glucose;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051301;cell division;IEA|GO:1901673;regulation of mitotic spindle assembly;IMP|GO:1904903;ESCRT III complex disassembly;NAS GO:0000794;condensed nuclear chromosome;IDA|GO:0000815;ESCRT III complex;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0010008;endosome membrane;IEA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP1A https://www.uniprot.org/uniprot/Q9HD42 https://hpo.jax.org/app/browse/search?q=CHMP1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164010 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP1A&submit=Quick%0D%6508ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP1A rs3217333 0 0 0 1 0 0 intronic intronic intronic CHMP1A CHMP1A ENSG00000131165 Na Na Na Na Na Na Het;-CCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTC 285;5|8 Ref Hom;-CCCACCCCACGCTGATCCAGCTTAACTCAACCTCCCCACCCCACGCTGATCCAGCCCTCAACCTC 325;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89727595 89727595 C T snp UTR3 *2689C>T C16orf55 rs164753 0.765974 0 0 1 0 0 intronic UTR3 UTR3 SPATA33 C16orf55(uc002fnx.5:c.*2689C>T) ENSG00000167523(ENST00000564238:c.*2936C>T,ENST00000568929:c.*637C>T) Na Na Na Na Na Na Het;C>T 1629;64|75 Het;C>T 1365;52|64 Hom;C>T 3405;0|130 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89735923 89735923 G C snp UTR3 *18G>C SPATA33 Spata33 ENSG00000167523 spermatogenesis associated 33 chr16:89724210-89737680 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA33 https://www.ncbi.nlm.nih.gov/omim/?term=615409 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA33&submit=Quick%0D%12027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA33 rs9937322 0.347444 0.3831 0.3460 1 0 0 UTR3 UTR3 UTR3 SPATA33(NM_153025:c.*18G>C,NM_001271907:c.*18G>C,NM_001271908:c.*18G>C,NM_001271910:c.*220G>C,NM_001271909:c.*18G>C) C16orf55(uc002fnw.2:c.*18G>C,uc010vpk.2:c.*18G>C,uc031qxn.1:c.*18G>C,uc031qxo.1:c.*220G>C,uc031qxq.1:c.*18G>C) ENSG00000167523(ENST00000301031:c.*18G>C,ENST00000566204:c.*18G>C,ENST00000565890:c.*404G>C,ENST00000579310:c.*18G>C,ENST00000457689:c.*400G>C) Na Na Na Na Na Na Het;G>C 2494;113|104 Ref Hom;G>C 5922;0|208 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89777123 89777123 C T snp nonsynonymous SNV G1129A D377N polar,hydrophilic,charged(-) polar,hydrophilic,neutral VPS9D1 Vps9d1 ENSG00000075399 VPS9 domain containing 1 chr16:89773542-89787394 GO:0015986;ATP synthesis coupled proton transport;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005096;GTPase activator activity;IEA|GO:0005215;transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/VPS9D1 https://www.uniprot.org/uniprot/Q9Y2B5 http://www.informatics.jax.org/searchtool/Search.do?query=VPS9D1&submit=Quick%0D%1544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS9D1 rs148694296 0.00638978 0.0183 0.0256 0.75 9 12 exonic exonic exonic VPS9D1 VPS9D1 ENSG00000075399 nonsynonymous SNV nonsynonymous SNV unknown VPS9D1:NM_004913:exon10:c.G1129A:p.D377N, VPS9D1:uc002fom.1:exon10:c.G1129A:p.D377N,VPS9D1:uc002fol.1:exon9:c.G919A:p.D307N, UNKNOWN Het;C>T 2639;113|116 Ref Hom;C>T 5388;2|208 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89779139 89779142 AGCT A indel ncRNA_exonic VPS9D1-AS1 rs111488775 0.111821 0.1513 0.1145 1 0 0 ncRNA_exonic intronic ncRNA_exonic VPS9D1-AS1 VPS9D1 ENSG00000261373 Na Na Na Na Na Na Het;-GCT 2613;55|68 Ref Hom;-GCT 5632;0|128 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89786761 89786761 C T snp intronic VPS9D1 Vps9d1 ENSG00000075399 VPS9 domain containing 1 chr16:89773542-89787394 GO:0015986;ATP synthesis coupled proton transport;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005096;GTPase activator activity;IEA|GO:0005215;transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/VPS9D1 https://www.uniprot.org/uniprot/Q9Y2B5 http://www.informatics.jax.org/searchtool/Search.do?query=VPS9D1&submit=Quick%0D%1544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS9D1 rs56283750 0.292332 0 0 1 0 0 intronic intronic intronic VPS9D1 VPS9D1 ENSG00000075399 Na Na Na Na Na Na Het;C>T 796;25|31 Het;C>T 745;35|36 Hom;C>T 1608;0|52 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89787968 89787968 C G snp UTR5 -81C>G ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs147792551 0.0423323 0 0 1 0 0 UTR5 UTR5 UTR5 ZNF276(NM_001113525:c.-81C>G) ZNF276(uc002fos.4:c.-81C>G) ENSG00000158805(ENST00000443381:c.-81C>G) Na Na Na Na Na Na Het;C>G 320;28|18 Ref Hom;C>G 836;0|33 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89795797 89795797 C G snp intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs11640734 0.0922524 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;C>G 175;20|7 Het;C>G 321;8|13 Hom;C>G 405;0|13 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89795813 89795813 A C snp intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs34120897 0.104034 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;A>C 163;14|7 Het;A>C 233;6|9 Hom;A>C 290;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89795859 89795859 G A snp intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs11640450 0.0626997 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;G>A 127;9|7 Ref Hom;G>A 191;0|6 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89799950 89799950 C T snp synonymous SNV C1341T G447G aliphatic,neutral aliphatic,neutral ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs17177891 0.0726837 0.0606 0.0659 1 0 0 exonic exonic exonic ZNF276 ZNF276 ENSG00000158805 synonymous SNV synonymous SNV unknown ZNF276:NM_001113525:exon8:c.C1341T:p.G447G,ZNF276:NM_152287:exon8:c.C1116T:p.G372G, ZNF276:uc002fos.4:exon8:c.C1341T:p.G447G,ZNF276:uc010cis.3:exon7:c.C618T:p.G206G,ZNF276:uc010ciq.3:exon8:c.C699T:p.G233G,ZNF276:uc002foq.4:exon8:c.C1116T:p.G372G,ZNF276:uc002for.4:exon8:c.C699T:p.G233G,ZNF276:uc010vpm.2:exon6:c.C855T:p.G285G,ZNF276:uc010cit.2:exon5:c.C618T:p.G206G, UNKNOWN Het;C>T 1536;79|70 Ref Hom;C>T 3026;2|111 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89800135 89800135 A G snp intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs4785715 0.371006 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;A>G 101;9|5 Het;A>G 233;2|7 Hom;A>G 153;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89800163 89800163 C CG indel intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs79577153 0.071885 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;+G 100;10|6 Ref Hom;+G 119;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89800550 89800550 G A snp intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs7189734 0.164736 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;G>A 1593;51|64 Ref Hom;G>A 2837;0|97 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89803928 89803928 C CA indel intronic ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs200766262 0 0 0 1 0 0 intronic intronic intronic ZNF276 ZNF276 ENSG00000158805 Na Na Na Na Na Na Het;+A 52;9|6 Ref Hom;+A 191;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89805794 89805794 A G snp UTR3 *1140A>G ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs9282682 0.140575 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF276(NM_152287:c.*1140A>G,NM_001113525:c.*1140A>G) ZNF276(uc010ciq.3:c.*1140A>G,uc002foq.4:c.*1140A>G,uc002for.4:c.*1140A>G,uc010cis.3:c.*1140A>G,uc002fos.4:c.*1140A>G,uc010vpm.2:c.*1140A>G) ENSG00000158805(ENST00000289816:c.*1140A>G) Na Na Na Na Na Na Het;A>G 1515;95|62 Ref Hom;A>G 2813;3|97 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89805914 89805914 T C snp nonsynonymous SNV A3982G T1328A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs9282681 0.0722843 0.0513 0.0538 0.08 1 13 exonic exonic exonic FANCA FANCA ENSG00000187741 nonsynonymous SNV nonsynonymous SNV unknown FANCA:NM_000135:exon40:c.A3982G:p.T1328A,FANCA:NM_001286167:exon40:c.A3982G:p.T1328A, FANCA:uc002fou.1:exon40:c.A3982G:p.T1328A,FANCA:uc010vpn.1:exon40:c.A3982G:p.T1328A, UNKNOWN Het;T>C 2321;101|99 Ref Hom;T>C 4899;2|177 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89806063 89806063 G C snp UTR3 *1409G>C ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs1061647 0.0720847 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF276(NM_152287:c.*1409G>C,NM_001113525:c.*1409G>C) ZNF276(uc010ciq.3:c.*1409G>C,uc002foq.4:c.*1409G>C,uc002for.4:c.*1409G>C,uc010cis.3:c.*1409G>C,uc002fos.4:c.*1409G>C,uc010vpm.2:c.*1409G>C) ENSG00000158805(ENST00000289816:c.*1409G>C) Na Na Na Na Na Na Het;G>C 3458;120|149 Ref Hom;G>C 7092;4|263 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89806343 89806343 C A snp nonsynonymous SNV G1251T L417F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11647746 0.141174 0 0.1000 1 0 0 UTR3 exonic UTR3 ZNF276(NM_152287:c.*1689C>A,NM_001113525:c.*1689C>A) FANCA ENSG00000158805(ENST00000289816:c.*1689C>A) Na nonsynonymous SNV Na Na FANCA:uc010vpo.2:exon11:c.G1251T:p.L417F, Na Het;C>A 1541;90|69 Ref Hom;C>A 4742;3|180 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89806614 89806614 T A snp UTR3 *1960T>A ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs11644967 0.140375 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF276(NM_152287:c.*1960T>A,NM_001113525:c.*1960T>A) ZNF276(uc010ciq.3:c.*1960T>A,uc002foq.4:c.*1960T>A,uc002for.4:c.*1960T>A,uc010cis.3:c.*1960T>A,uc002fos.4:c.*1960T>A,uc010vpm.2:c.*1960T>A) ENSG00000158805(ENST00000289816:c.*1960T>A) Na Na Na Na Na Na Het;T>A 290;2|9 Ref Hom;T>A 358;0|10 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89807131 89807131 C A snp UTR3 *2477C>A ZNF276 Zfp276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 rs11649162 0.0720847 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF276(NM_152287:c.*2477C>A,NM_001113525:c.*2477C>A) ZNF276(uc010ciq.3:c.*2477C>A,uc002foq.4:c.*2477C>A,uc002for.4:c.*2477C>A,uc010cis.3:c.*2477C>A,uc002fos.4:c.*2477C>A,uc010vpm.2:c.*2477C>A) ENSG00000158805(ENST00000289816:c.*2477C>A) Na Na Na Na Na Na Het;C>A 440;21|21 Ref Hom;C>A 845;0|30 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89807233 89807233 C G snp synonymous SNV G3807C L1269L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11649210 0.137979 0.1080 0.0998 1 0 0 exonic exonic exonic FANCA FANCA ENSG00000187741 synonymous SNV synonymous SNV unknown FANCA:NM_000135:exon38:c.G3807C:p.L1269L,FANCA:NM_001286167:exon38:c.G3807C:p.L1269L, FANCA:uc010vpo.2:exon10:c.G1065C:p.L355L,FANCA:uc002fou.1:exon38:c.G3807C:p.L1269L,FANCA:uc010vpn.1:exon38:c.G3807C:p.L1269L, UNKNOWN Het;C>G 1192;65|55 Ref Hom;C>G 2088;0|71 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89809171 89809171 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs34420680 0.071885 0.0595 0.0650 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 510;55|27 Ref Hom;C>T 1826;0|62 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89809319 89809319 T C snp synonymous SNV A3654G P1218P hydrophobic,neutral hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs1800358 0.157548 0.1320 0.1041 1 0 0 exonic exonic exonic FANCA FANCA ENSG00000187741 synonymous SNV synonymous SNV unknown FANCA:NM_000135:exon37:c.A3654G:p.P1218P,FANCA:NM_001286167:exon37:c.A3654G:p.P1218P, FANCA:uc010vpo.2:exon9:c.A912G:p.P304P,FANCA:uc002fou.1:exon37:c.A3654G:p.P1218P,FANCA:uc010vpn.1:exon37:c.A3654G:p.P1218P, UNKNOWN Het;T>C 2111;112|100 Ref Hom;T>C 4823;4|188 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89809548 89809548 C A snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs2286393 0.072484 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>A 44;4|2 Ref Hom;C>A 152;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89809549 89809549 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs2286392 0.160543 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 44;4|2 Ref Hom;A>G 152;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89811209 89811209 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17233623 0.123802 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 42;7|4 Ref Hom;C>T 152;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89811546 89811546 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs2074904 0.071885 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 714;19|27 Ref Hom;A>G 1206;0|43 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89812851 89812853 CTG C indel intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17233602 0.128195 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;-TG 362;7|10 Ref Hom;-TG 188;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89813194 89813194 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs1800355 0.0716853 0.0589 0.0946 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 1658;49|69 Ref Hom;C>T 3617;0|133 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89815152 89815152 G A snp nonsynonymous SNV C521T S174F polar,hydrophilic,neutral aromatic,hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17233497 0.0233626 0.0592 0.0510 0.54 7 13 exonic exonic exonic FANCA FANCA ENSG00000187741 nonsynonymous SNV nonsynonymous SNV unknown FANCA:NM_000135:exon33:c.C3263T:p.S1088F,FANCA:NM_001286167:exon33:c.C3263T:p.S1088F, FANCA:uc010vpo.2:exon5:c.C521T:p.S174F,FANCA:uc002fou.1:exon33:c.C3263T:p.S1088F,FANCA:uc010vpn.1:exon33:c.C3263T:p.S1088F, UNKNOWN Het;G>A 1782;78|77 Ref Hom;G>A 3616;0|128 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89815321 89815321 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17227085 0.0716853 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 243;8|9 Ref Hom;C>T 341;0|10 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89816314 89816314 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17227064 0.0716853 0.0588 0.0652 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 885;47|37 Ref Hom;A>G 1845;3|70 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89816333 89816333 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17227057 0.0716853 0.0596 0.0654 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 886;44|39 Ref Hom;C>T 1828;1|72 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89816367 89816367 T G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs1800344 0.0716853 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>G 638;38|29 Ref Hom;T>G 1736;1|64 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89816407 89816407 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17233455 0.071885 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 446;27|20 Ref Hom;A>G 1179;1|41 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89816424 89816424 G T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17233448 0.0716853 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;G>T 417;25|16 Ref Hom;G>T 1010;0|35 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89825065 89825065 G A snp synonymous SNV C2901T S967S polar,hydrophilic,neutral polar,hydrophilic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17226980 0.0720847 0.0594 0.0655 1 0 0 exonic exonic exonic FANCA FANCA ENSG00000187741 synonymous SNV synonymous SNV unknown FANCA:NM_000135:exon30:c.C2901T:p.S967S,FANCA:NM_001286167:exon30:c.C2901T:p.S967S, FANCA:uc002fou.1:exon30:c.C2901T:p.S967S,FANCA:uc010vpn.1:exon30:c.C2901T:p.S967S, UNKNOWN Het;G>A 788;72|43 Ref Hom;G>A 2069;0|77 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89825248 89825248 T C snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17226973 0.0720847 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>C 67;5|3 Ref Hom;T>C 107;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89828437 89828437 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17233253 0.0720847 0.0594 0.0656 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 529;8|21 Ref Hom;A>G 963;0|35 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89828484 89828484 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17226841 0.0720847 0.0648 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 386;3|16 Ref Hom;C>T 226;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89831243 89831243 C A snp unknown FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11076619 0.0714856 0 0.0659 1 0 0 intronic intronic exonic FANCA FANCA ENSG00000187741 Na Na unknown Na Na UNKNOWN Het;C>A 78;13|4 Ref Hom;C>A 484;0|18 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89831520 89831520 A T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11076620 0.0716853 0.0597 0.0657 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>T 516;19|16 Ref Hom;A>T 808;0|26 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89831558 89831558 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs12600151 0.0716853 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 311;13|9 Ref Hom;C>T 287;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89837927 89837927 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11076621 0.0722843 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 326;8|9 Ref Hom;A>G 107;0|3 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89837951 89837951 T C snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11076622 0.072484 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>C 396;9|11 Ref Hom;T>C 234;0|7 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89839637 89839637 C A snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs1800339 0.072484 0.0518 0.0502 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>A 704;29|34 Ref Hom;C>A 1128;0|39 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89839766 89839766 G C snp nonsynonymous SNV C1927G P643A hydrophobic,neutral aliphatic,hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17232910 0.0740815 0.0477 0.0522 0.15 2 13 exonic exonic exonic FANCA FANCA ENSG00000187741 nonsynonymous SNV nonsynonymous SNV unknown FANCA:NM_000135:exon22:c.C1927G:p.P643A,FANCA:NM_001286167:exon22:c.C1927G:p.P643A, FANCA:uc002fou.1:exon22:c.C1927G:p.P643A,FANCA:uc010vpn.1:exon22:c.C1927G:p.P643A, UNKNOWN Het;G>C 1064;63|49 Ref Hom;G>C 3260;2|122 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89839854 89839854 T C snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17226519 0.072484 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>C 638;31|28 Ref Hom;T>C 1418;0|47 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89845111 89845111 T C snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11642010 0.0383387 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>C 725;17|24 Ref Hom;T>C 371;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89845178 89845178 T TAC indel intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs1799742 0.0720847 0.0590 0.0656 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;+AC 2518;44|63 Ref Hom;+AC 3567;3|79 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89845287 89845287 A G snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs2302162 0.0722843 0.0596 0.0657 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;A>G 2112;121|96 Ref Hom;A>G 6024;6|227 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89851116 89851128 TGGGGAAGGGGAA T indel intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs146134541 0.0722843 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;-GGGGAAGGGGAA 101;10|4 Ref Hom;-GGGGAAGGGGAA 674;0|16 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89851179 89851179 C T snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs17232630 0.0714856 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;C>T 240;26|13 Ref Hom;C>T 1056;0|36 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89857935 89857935 G A snp nonsynonymous SNV C1235T A412V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11646374 0.0704872 0.0596 0.0651 0.54 7 13 exonic exonic exonic FANCA FANCA ENSG00000187741 nonsynonymous SNV nonsynonymous SNV unknown FANCA:NM_000135:exon14:c.C1235T:p.A412V,FANCA:NM_001286167:exon14:c.C1235T:p.A412V, FANCA:uc002fou.1:exon14:c.C1235T:p.A412V,FANCA:uc010vpn.1:exon14:c.C1235T:p.A412V, UNKNOWN Het;G>A 1177;49|54 Ref Hom;G>A 2612;0|97 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89858417 89858417 C A snp synonymous SNV G1143T T381T polar,hydrophilic,neutral polar,hydrophilic,neutral FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs1800331 0.071885 0.0606 0.0652 1 0 0 exonic exonic exonic FANCA FANCA ENSG00000187741 synonymous SNV synonymous SNV unknown FANCA:NM_000135:exon13:c.G1143T:p.T381T,FANCA:NM_001286167:exon13:c.G1143T:p.T381T, FANCA:uc002fou.1:exon13:c.G1143T:p.T381T,FANCA:uc010vpn.1:exon13:c.G1143T:p.T381T, UNKNOWN Het;C>A 963;78|43 Ref Hom;C>A 3734;3|135 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89862434 89862434 T C snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs11648881 0.0754792 0.0605 0.0717 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>C 1079;29|46 Ref Hom;T>C 1465;2|58 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89877269 89877269 T C snp intronic FANCA Fanca ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA rs2074963 0.077476 0 0 1 0 0 intronic intronic intronic FANCA FANCA ENSG00000187741 Na Na Na Na Na Na Het;T>C 1491;51|61 Ref Hom;T>C 3240;1|112 N N - 16 8988777 8988777 C G snp intronic USP7 Usp7 ENSG00000187555 ubiquitin specific peptidase 7 chr16:8985951-9058371 The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016] prostate cancer; Tobacco Use Disorder; fertility; Hypertrophy, Left Ventricular; Heart Failure Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. Regulation of PTEN localization GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0010216;maintenance of DNA methylation;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;ISS|GO:0050821;protein stabilization;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:1904353;regulation of telomere capping;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IEA GO:0002039;p53 binding;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/USP7 https://www.ncbi.nlm.nih.gov/omim/?term=602519 http://www.informatics.jax.org/searchtool/Search.do?query=USP7&submit=Quick%0D%15844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP7 rs2304467 0.32488 0.2954 0 1 0 0 intronic intronic intronic USP7 USP7 ENSG00000187555 Na Na Na Na Na Na Het;C>G 548;30|22 Het;C>G 503;22|19 Hom;C>G 1184;0|34 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89916600 89916600 C A snp synonymous SNV C33A T11T polar,hydrophilic,neutral polar,hydrophilic,neutral SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs12598316 0.0734824 0 0.0553 1 0 0 intronic exonic intronic SPIRE2 SPIRE2 ENSG00000204991 Na synonymous SNV Na Na SPIRE2:uc002fpa.1:exon1:c.C33A:p.T11T, Na Het;C>A 140;6|6 Ref Hom;C>A 250;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89920957 89920957 A G snp synonymous SNV A789G Q263Q polar,hydrophilic,neutral polar,hydrophilic,neutral SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs12598737 0.0754792 0.0604 0.0704 1 0 0 exonic exonic exonic SPIRE2 SPIRE2 ENSG00000204991 synonymous SNV synonymous SNV unknown SPIRE2:NM_032451:exon5:c.A789G:p.Q263Q, SPIRE2:uc010ciw.1:exon5:c.A789G:p.Q263Q,SPIRE2:uc010cix.1:exon3:c.A396G:p.Q132Q,SPIRE2:uc002fpa.1:exon3:c.A645G:p.Q215Q,SPIRE2:uc010civ.1:exon6:c.A534G:p.Q178Q,SPIRE2:uc002foz.1:exon5:c.A789G:p.Q263Q, UNKNOWN Het;A>G 2531;118|105 Ref Hom;A>G 5437;2|199 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89921117 89921117 G GGCCGCAGAGGGGCAGCCTGGATGCAGAGGTCGTGGTGAGCGGGGCA indel intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 Na 0 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;+GCCGCAGAGGGGCAGCCTGGATGCAGAGGTCGTGGTGAGCGGGGCA 1419;47|32 Ref Hom;+GCCGCAGAGGGGCAGCCTGGATGCAGAGGTCGTGGTGAGCGGGGCA 2620;0|57 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89921125 89921125 A AGGGGCAGCCTGGATGCAGAGGTCGTGG indel intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 Na 0 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;+GGGGCAGCCTGGATGCAGAGGTCGTGG 874;45|19 Ref Hom;+GGGGCAGCCTGGATGCAGAGGTCGTGG 1537;0|27 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89921128 89921128 A AGCGGGGCGGCCGCAGAGGG indel intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 Na 0 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;+GCGGGGCGGCCGCAGAGGG 793;43|21 Ref Hom;+GCGGGGCGGCCGCAGAGGG 1291;0|26 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89922485 89922485 T C snp intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs1105691 0.124201 0.1258 0.1161 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;T>C 620;35|27 Ref Hom;T>C 1679;0|61 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89927265 89927265 C T snp intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs11641897 0.0780751 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;C>T 206;12|9 Ref Hom;C>T 299;0|11 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89930087 89930087 T A snp intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs62056090 0.13119 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;T>A 1351;56|59 Ref Hom;T>A 2462;0|87 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89930414 89930414 G A snp intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs62056091 0.077476 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;G>A 193;8|6 Ref Hom;G>A 185;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89930426 89930426 A G snp intronic SPIRE2 Spire2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 rs62056092 0.131589 0 0 1 0 0 intronic intronic intronic SPIRE2 SPIRE2 ENSG00000204991 Na Na Na Na Na Na Het;A>G 161;6|5 Ref Hom;A>G 152;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89950901 89950901 G A snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs62052174 0.10603 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;G>A 373;14|16 Ref Hom;G>A 703;1|28 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89954138 89954138 G C snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs9922515 0.282748 0.2345 0.1582 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;G>C 1773;86|78 Ref Hom;G>C 4368;2|164 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89958538 89958538 G A snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs11647174 0.0792732 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;G>A 1168;36|51 Ref Hom;G>A 2289;2|87 N N - 16 8995927 8995927 G A snp intronic USP7 Usp7 ENSG00000187555 ubiquitin specific peptidase 7 chr16:8985951-9058371 The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016] prostate cancer; Tobacco Use Disorder; fertility; Hypertrophy, Left Ventricular; Heart Failure Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. Regulation of PTEN localization GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0010216;maintenance of DNA methylation;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;ISS|GO:0050821;protein stabilization;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:1904353;regulation of telomere capping;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IEA GO:0002039;p53 binding;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/USP7 https://www.ncbi.nlm.nih.gov/omim/?term=602519 http://www.informatics.jax.org/searchtool/Search.do?query=USP7&submit=Quick%0D%15844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP7 rs2304466 0.423922 0.4108 0.5004 1 0 0 intronic intronic intronic USP7 USP7 ENSG00000187555 Na Na Na Na Na Na Het;G>A 638;41|32 Het;G>A 975;33|42 Hom;G>A 1614;1|65 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89961593 89961593 A G snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs7186976 0.179513 0.1095 0.1129 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;A>G 881;19|23 Ref Hom;A>G 1185;0|28 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89961597 89961597 T C snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs7191836 0.179113 0.1123 0.1082 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;T>C 881;19|23 Ref Hom;T>C 1136;0|25 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89961661 89961661 G A snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs7184960 0.179113 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;G>A 214;5|8 Ref Hom;G>A 169;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89962394 89962394 A G snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs2293586 0.286142 0.2402 0.1583 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;A>G 1964;95|91 Ref Hom;A>G 3758;2|140 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89962635 89962635 C A snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs75110337 0.102835 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;C>A 100;4|4 Ref Hom;C>A 246;0|8 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89965055 89965055 G A snp synonymous SNV G1113A L371L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs11648433 0.0784744 0.0643 0.0758 1 0 0 exonic exonic exonic TCF25 TCF25 ENSG00000141002 synonymous SNV synonymous SNV unknown TCF25:NM_014972:exon10:c.G1113A:p.L371L, TCF25:uc002fpc.2:exon8:c.G408A:p.L136L,TCF25:uc002fpb.2:exon10:c.G1113A:p.L371L, UNKNOWN Het;G>A 2138;93|89 Ref Hom;G>A 5123;2|191 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89966921 89966921 C A snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs62052183 0.103035 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;C>A 175;5|6 Ref Hom;C>A 166;0|5 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89970753 89970753 A AT indel intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs398078824 0.187899 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;+T 74;2|4 Ref Hom;+T 93;0|4 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89972532 89972532 A C snp intronic TCF25 Tcf25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 rs11862382 0.291134 0 0 1 0 0 intronic intronic intronic TCF25 TCF25 ENSG00000141002 Na Na Na Na Na Na Het;A>C 319;14|15 Ref Hom;A>C 878;0|29 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89973812 89973812 C T snp ncRNA_intronic AC092143.4 rs570426774 0.458067 0 0 1 0 0 intronic intronic ncRNA_intronic TCF25 TCF25 ENSG00000267048 Na Na Na Na Na Na Het;C>T 91;5|3 Ref Hom;C>T 732;1|17 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89973816 89973816 A C snp ncRNA_intronic AC092143.4 rs190789120 0.928315 0 0 1 0 0 intronic intronic ncRNA_intronic TCF25 TCF25 ENSG00000267048 Na Na Na Na Na Na Het;A>C 31;4|2 Ref Hom;A>C 687;1|17 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89973821 89973821 T C snp ncRNA_intronic AC092143.4 rs568341410 0.909744 0 0 1 0 0 intronic intronic ncRNA_intronic TCF25 TCF25 ENSG00000267048 Na Na Na Na Na Na Het;T>C 31;4|1 Ref Hom;T>C 687;1|14 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89985940 89985940 G A snp nonsynonymous SNV G274A V92M aliphatic,hydrophobic,neutral hydrophobic,neutral MC1R Mc1r ENSG00000258839 melanocortin 1 receptor chr16:89978527-89987385 This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] vitiligo; multiple sclerosis; Carcinoma, Basal Cell; tanning; radiation, UV, sensitivity to; pigmentation; null; breast cancer melanoma; freckles; prostate cancer; Hair Color; melanoma|Skin Neoplasms; red vs non-red hair color; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Neoplasms, Radiation-Induced|Skin Neoplasms; Melanosis; Adenocarcinoma, Follicular|Carcinoma, Papillary|Melanoma|Thyroid Neoplasms; human pigmentation; Suntan; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; melanoma|Nevus|Skin Neoplasms|Sunburn; Heart Failure; skin cancer, non-melanoma; Vitiligo; melanoma; freckles and solar lentigines; Black vs red hair color; Skin Neoplasms; melanoma, cutaneous; Albinism, Oculocutaneous; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Ocular melanoma; Photosensitivity Disorders; hair color; skin cancer, nonmelanoma; melanoma skin cancer, non-melanoma; Parkinson's disease ; Carcinoma, Basal Cell|Melanoma|Skin Neoplasms; Melanoma, Amelanotic|Skin Neoplasms; ephelides; solar lentigines; cutaneous melanoma which is largely independent of skin type and hair color; oculocutaneous albinism type 2; Dengue Hemorrhagic Fever; obesity; tanning phenotype; Epstein-Barr Virus Infections|Multiple Sclerosis; Blond vs brown hair color; vulvar vestibulitis syndrome; skin sensitivity to sun; skin cancer; squamous cell carcinoma; carcinoma, basal cell; Melanoma|Skin Neoplasms; Melanoma|Neoplasms, Multiple Primary|Nevus|Skin Neoplasms; Severe Photoaging of Facial Skin; Melanoma; Erythema|Psoriasis|Skin Neoplasms; skin color; melanoma; skin cancer, non-melanoma; Lymphoma, Non-Hodgkin; Severe Acute Radiotherapy Side Effects Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity. G alpha (s) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007275;multicellular organism development;TAS|GO:0009650;UV protection;TAS|GO:0010739;positive regulation of protein kinase A signaling;ISS|GO:0019233;sensory perception of pain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0035556;intracellular signal transduction;ISS|GO:0042438;melanin biosynthetic process;IEA|GO:0043473;pigmentation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051897;positive regulation of protein kinase B signaling;ISS|GO:0070914;UV-damage excision repair;IDA|GO:0090037;positive regulation of protein kinase C signaling;ISS GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004977;melanocortin receptor activity;IEA|GO:0004980;melanocyte-stimulating hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;TAS|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MC1R https://hpo.jax.org/app/browse/search?q=MC1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=155555 http://www.informatics.jax.org/searchtool/Search.do?query=MC1R&submit=Quick%0D%20304ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MC1R rs2228479 0.0796725 0.0633 0.0764 0.17 2 12 exonic exonic exonic MC1R MC1R,TUBB3 ENSG00000198211,ENSG00000258839 nonsynonymous SNV nonsynonymous SNV unknown MC1R:NM_002386:exon1:c.G274A:p.V92M, MC1R:uc002fpe.4:exon1:c.G274A:p.V92M,TUBB3:uc002fpf.2:exon1:c.G274A:p.V92M, UNKNOWN Het;G>A 2403;141|111 Ref Hom;G>A 5708;0|210 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89986608 89986608 A G snp synonymous SNV A942G T314T polar,hydrophilic,neutral polar,hydrophilic,neutral MC1R Mc1r ENSG00000258839 melanocortin 1 receptor chr16:89978527-89987385 This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] vitiligo; multiple sclerosis; Carcinoma, Basal Cell; tanning; radiation, UV, sensitivity to; pigmentation; null; breast cancer melanoma; freckles; prostate cancer; Hair Color; melanoma|Skin Neoplasms; red vs non-red hair color; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Neoplasms, Radiation-Induced|Skin Neoplasms; Melanosis; Adenocarcinoma, Follicular|Carcinoma, Papillary|Melanoma|Thyroid Neoplasms; human pigmentation; Suntan; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; melanoma|Nevus|Skin Neoplasms|Sunburn; Heart Failure; skin cancer, non-melanoma; Vitiligo; melanoma; freckles and solar lentigines; Black vs red hair color; Skin Neoplasms; melanoma, cutaneous; Albinism, Oculocutaneous; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Ocular melanoma; Photosensitivity Disorders; hair color; skin cancer, nonmelanoma; melanoma skin cancer, non-melanoma; Parkinson's disease ; Carcinoma, Basal Cell|Melanoma|Skin Neoplasms; Melanoma, Amelanotic|Skin Neoplasms; ephelides; solar lentigines; cutaneous melanoma which is largely independent of skin type and hair color; oculocutaneous albinism type 2; Dengue Hemorrhagic Fever; obesity; tanning phenotype; Epstein-Barr Virus Infections|Multiple Sclerosis; Blond vs brown hair color; vulvar vestibulitis syndrome; skin sensitivity to sun; skin cancer; squamous cell carcinoma; carcinoma, basal cell; Melanoma|Skin Neoplasms; Melanoma|Neoplasms, Multiple Primary|Nevus|Skin Neoplasms; Severe Photoaging of Facial Skin; Melanoma; Erythema|Psoriasis|Skin Neoplasms; skin color; melanoma; skin cancer, non-melanoma; Lymphoma, Non-Hodgkin; Severe Acute Radiotherapy Side Effects Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity. G alpha (s) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007275;multicellular organism development;TAS|GO:0009650;UV protection;TAS|GO:0010739;positive regulation of protein kinase A signaling;ISS|GO:0019233;sensory perception of pain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0035556;intracellular signal transduction;ISS|GO:0042438;melanin biosynthetic process;IEA|GO:0043473;pigmentation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051897;positive regulation of protein kinase B signaling;ISS|GO:0070914;UV-damage excision repair;IDA|GO:0090037;positive regulation of protein kinase C signaling;ISS GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004977;melanocortin receptor activity;IEA|GO:0004980;melanocyte-stimulating hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;TAS|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MC1R https://hpo.jax.org/app/browse/search?q=MC1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=155555 http://www.informatics.jax.org/searchtool/Search.do?query=MC1R&submit=Quick%0D%20304ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MC1R rs2228478 0.258986 0.2081 0.1502 1 0 0 exonic exonic exonic MC1R MC1R,TUBB3 ENSG00000198211,ENSG00000258839 synonymous SNV synonymous SNV unknown MC1R:NM_002386:exon1:c.A942G:p.T314T, MC1R:uc002fpe.4:exon1:c.A942G:p.T314T,TUBB3:uc002fpf.2:exon1:c.A942G:p.T314T, UNKNOWN Het;A>G 4181;201|189 Ref Hom;A>G 10022;4|378 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89986760 89986760 A G snp ncRNA_exonic ENSG00000256390 rs3212369 0.23143 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic MC1R(NM_002386:c.*140A>G) MC1R(uc002fpe.4:c.*140A>G) ENSG00000256390,ENSG00000259006 Na Na Na Na Na Na Het;A>G 1031;42|37 Ref Hom;A>G 1856;1|63 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 89987201 89987201 A G snp ncRNA_exonic ENSG00000256390 rs3212371 0.214457 0 0.1930 1 0 0 UTR3 UTR3 ncRNA_exonic MC1R(NM_002386:c.*581A>G) MC1R(uc002fpe.4:c.*581A>G) ENSG00000256390 Na Na Na Na Na Na Het;A>G 421;28|17 Ref Hom;A>G 1008;0|36 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90044028 90044028 C T snp ncRNA_exonic AFG3L1P rs4408545 0.351438 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic AFG3L1P AFG3L1P ENSG00000223959 Na Na Na Na Na Na Het;C>T 1667;61|68 Ref Hom;C>T 3277;0|110 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90050880 90050880 A C snp ncRNA_intronic AFG3L1P rs4785759 0.406749 0.4860 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic AFG3L1P AFG3L1P ENSG00000223959 Na Na Na Na Na Na Het;A>C 320;31|17 Ref Hom;A>C 1351;0|45 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90061266 90061266 G A snp ncRNA_exonic AFG3L1P rs7192770 0.306709 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic AFG3L1P AFG3L1P(dist=10157),DBNDD1(dist=10013) ENSG00000223959 Na Na Na Na Na Na Het;G>A 1164;61|52 Ref Hom;G>A 3459;0|125 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90061344 90061344 C T snp ncRNA_exonic AFG3L1P rs7198761 0.358626 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic AFG3L1P AFG3L1P(dist=10235),DBNDD1(dist=9935) ENSG00000223959 Na Na Na Na Na Na Het;C>T 417;16|15 Ref Hom;C>T 899;0|29 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90075090 90075090 G T snp intronic DBNDD1 Dbndd1 ENSG00000003249 dysbindin domain containing 1 chr16:90071273-90086536 Suntan GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBNDD1 https://www.uniprot.org/uniprot/Q9H9R9 http://www.informatics.jax.org/searchtool/Search.do?query=DBNDD1&submit=Quick%0D%303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBNDD1 rs11641848 0.27476 0 0 1 0 0 intronic intronic intronic DBNDD1 DBNDD1 ENSG00000003249 Na Na Na Na Na Na Het;G>T 342;13|10 Ref Hom;G>T 408;0|9 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90075100 90075100 C G snp intronic DBNDD1 Dbndd1 ENSG00000003249 dysbindin domain containing 1 chr16:90071273-90086536 Suntan GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBNDD1 https://www.uniprot.org/uniprot/Q9H9R9 http://www.informatics.jax.org/searchtool/Search.do?query=DBNDD1&submit=Quick%0D%303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBNDD1 rs11642185 0.286342 0 0 1 0 0 intronic intronic intronic DBNDD1 DBNDD1 ENSG00000003249 Na Na Na Na Na Na Het;C>G 401;13|12 Ref Hom;C>G 478;0|12 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90075412 90075412 T C snp intronic DBNDD1 Dbndd1 ENSG00000003249 dysbindin domain containing 1 chr16:90071273-90086536 Suntan GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBNDD1 https://www.uniprot.org/uniprot/Q9H9R9 http://www.informatics.jax.org/searchtool/Search.do?query=DBNDD1&submit=Quick%0D%303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBNDD1 rs2241084 0.747804 0 0 1 0 0 intronic intronic intronic DBNDD1 DBNDD1 ENSG00000003249 Na Na Na Na Na Na Het;T>C 405;27|21 Ref Hom;T>C 1596;0|58 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90102835 90102835 A G snp synonymous SNV A348G E116E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) GAS8 Gas8 ENSG00000141013 growth arrest specific 8 chr16:90086037-90111383 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Heart Failure Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. Activation of SMO GO:0003351;epithelial cilium movement;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0034613;cellular protein localization;IEA|GO:0035082;axoneme assembly;IEA|GO:0048870;cell motility;IEA|GO:0060294;cilium movement involved in cell motility;IMP|GO:1904526;regulation of microtubule binding;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097729;9+2 motile cilium;IEA GO:0003674;molecular_function;ND|GO:0008017;microtubule binding;IEA|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS8 https://www.uniprot.org/uniprot/O95995 https://hpo.jax.org/app/browse/search?q=GAS8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605178 http://www.informatics.jax.org/searchtool/Search.do?query=GAS8&submit=Quick%0D%8110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS8 rs868045 0.264377 0.4040 0.3240 1 0 0 exonic exonic exonic GAS8 GAS8 ENSG00000141013 synonymous SNV synonymous SNV unknown GAS8:NM_001286205:exon6:c.A348G:p.E116E,GAS8:NM_001286209:exon6:c.A522G:p.E174E,GAS8:NM_001481:exon6:c.A597G:p.E199E,GAS8:NM_001286208:exon5:c.A21G:p.E7E, GAS8:uc010vpu.1:exon6:c.A348G:p.E116E,GAS8:uc002fqi.1:exon6:c.A597G:p.E199E,GAS8:uc002fqj.1:exon5:c.A21G:p.E7E,GAS8:uc010vpv.1:exon5:c.A510G:p.E170E,GAS8:uc010vpw.1:exon6:c.A348G:p.E116E,GAS8:uc010vps.1:exon6:c.A522G:p.E174E,GAS8:uc010cjc.1:exon6:c.A348G:p.E116E,GAS8:uc002fqh.2:exon6:c.A348G:p.E116E, UNKNOWN Het;A>G 1449;51|54 Het;A>G 1059;50|47 Hom;A>G 2798;0|99 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90103087 90103087 C T snp synonymous SNV C600T T200T polar,hydrophilic,neutral polar,hydrophilic,neutral GAS8 Gas8 ENSG00000141013 growth arrest specific 8 chr16:90086037-90111383 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Heart Failure Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. Activation of SMO GO:0003351;epithelial cilium movement;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0034613;cellular protein localization;IEA|GO:0035082;axoneme assembly;IEA|GO:0048870;cell motility;IEA|GO:0060294;cilium movement involved in cell motility;IMP|GO:1904526;regulation of microtubule binding;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097729;9+2 motile cilium;IEA GO:0003674;molecular_function;ND|GO:0008017;microtubule binding;IEA|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS8 https://www.uniprot.org/uniprot/O95995 https://hpo.jax.org/app/browse/search?q=GAS8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605178 http://www.informatics.jax.org/searchtool/Search.do?query=GAS8&submit=Quick%0D%8110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS8 rs4464078 0.326877 0 0.4107 1 0 0 intronic exonic UTR3 GAS8 GAS8 ENSG00000141013(ENST00000565062:c.*622C>T) Na synonymous SNV Na Na GAS8:uc010vpu.1:exon6:c.C600T:p.T200T, Na Het;C>T 742;20|27 Het;C>T 620;18|26 Hom;C>T 1080;0|33 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90103117 90103117 G A snp synonymous SNV G630A L210L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GAS8 Gas8 ENSG00000141013 growth arrest specific 8 chr16:90086037-90111383 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Heart Failure Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. Activation of SMO GO:0003351;epithelial cilium movement;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0034613;cellular protein localization;IEA|GO:0035082;axoneme assembly;IEA|GO:0048870;cell motility;IEA|GO:0060294;cilium movement involved in cell motility;IMP|GO:1904526;regulation of microtubule binding;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097729;9+2 motile cilium;IEA GO:0003674;molecular_function;ND|GO:0008017;microtubule binding;IEA|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS8 https://www.uniprot.org/uniprot/O95995 https://hpo.jax.org/app/browse/search?q=GAS8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605178 http://www.informatics.jax.org/searchtool/Search.do?query=GAS8&submit=Quick%0D%8110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS8 rs7498985 0.327476 0 0.3993 1 0 0 intronic exonic UTR3 GAS8 GAS8 ENSG00000141013(ENST00000565062:c.*652G>A) Na synonymous SNV Na Na GAS8:uc010vpu.1:exon6:c.G630A:p.L210L, Na Het;G>A 394;11|15 Het;G>A 438;11|16 Hom;G>A 434;0|13 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90106364 90106364 C A snp ncRNA_exonic URAHP rs45583731 0.204073 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic URAHP LOC100130015(uc002fql.3:c.*417G>T) ENSG00000222019 Na Na Na Na Na Na Het;C>A 2208;92|99 Het;C>A 2029;92|88 Hom;C>A 4822;0|177 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90106525 90106525 T C snp ncRNA_exonic URAHP rs4785767 0.507188 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic URAHP LOC100130015(uc002fql.3:c.*256A>G) ENSG00000222019 Na Na Na Na Na Na Het;T>C 2091;91|88 Het;T>C 2138;75|93 Hom;T>C 4159;0|141 16_129.974_134.474 Chr16:87933002-90108832 0.174 16 90107043 90107043 A G snp ncRNA_intronic URAHP rs9922090 0.288339 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic URAHP GAS8,LOC100130015 ENSG00000222019 Na Na Na Na Na Na Het;A>G 330;9|11 Het;A>G 112;8|4 Hom;A>G 245;0|7 N N - 16 90108832 90108832 C T snp UTR3 *97C>T GAS8 Gas8 ENSG00000141013 growth arrest specific 8 chr16:90086037-90111383 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Heart Failure Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. Activation of SMO GO:0003351;epithelial cilium movement;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0034613;cellular protein localization;IEA|GO:0035082;axoneme assembly;IEA|GO:0048870;cell motility;IEA|GO:0060294;cilium movement involved in cell motility;IMP|GO:1904526;regulation of microtubule binding;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097729;9+2 motile cilium;IEA GO:0003674;molecular_function;ND|GO:0008017;microtubule binding;IEA|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS8 https://www.uniprot.org/uniprot/O95995 https://hpo.jax.org/app/browse/search?q=GAS8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605178 http://www.informatics.jax.org/searchtool/Search.do?query=GAS8&submit=Quick%0D%8110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS8 rs2241035 0.411941 0.5383 0.5318 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic URAHP GAS8(uc010vpv.1:c.*97C>T) ENSG00000222019 Na Na Na Na Na Na Het;C>T 518;18|22 Het;C>T 227;10|10 Hom;C>T 756;0|27 N N - 16 90109372 90109372 C T snp ncRNA_exonic URAHP rs2241033 0.405152 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic URAHP LOC100130015(uc010cjd.3:c.*621G>A) ENSG00000222019 Na Na Na Na Na Na Het;C>T 1299;75|63 Het;C>T 1688;41|71 Hom;C>T 3608;0|135 N N - 16 90128224 90128224 C G snp intronic PRDM7 Prdm9 ENSG00000126856 PR/SET domain 7 chr16:90122974-90158480 This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013] HIV Infections|[X]Human immunodeficiency virus disease; Heart Failure Mice homozygous for a knock-out allele show decreased oocyte number, azoospermia, and sterility in both sexes due to severe impairment of the double-stranded break repair pathway, deficient pairing of homologous chromosomes, and impaired sex body formation. Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM7 https://www.uniprot.org/uniprot/Q9NQW5 https://www.ncbi.nlm.nih.gov/omim/?term=609759 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM7&submit=Quick%0D%5982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM7 rs2077426 0.418131 0 0 1 0 0 intronic intronic intronic PRDM7 PRDM7 ENSG00000126856 Na Na Na Na Na Na Het;C>G 278;5|11 Het;C>G 175;11|7 Hom;C>G 179;0|6 N N - 16 90141355 90141355 A C snp nonsynonymous SNV T270G D90E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PRDM7 Prdm9 ENSG00000126856 PR/SET domain 7 chr16:90122974-90158480 This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013] HIV Infections|[X]Human immunodeficiency virus disease; Heart Failure Mice homozygous for a knock-out allele show decreased oocyte number, azoospermia, and sterility in both sexes due to severe impairment of the double-stranded break repair pathway, deficient pairing of homologous chromosomes, and impaired sex body formation. Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM7 https://www.uniprot.org/uniprot/Q9NQW5 https://www.ncbi.nlm.nih.gov/omim/?term=609759 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM7&submit=Quick%0D%5982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM7 rs12925933 0.390575 0.5421 0.5567 0.33 4 12 exonic exonic exonic PRDM7 PRDM7 ENSG00000126856 nonsynonymous SNV nonsynonymous SNV unknown PRDM7:NM_001098173:exon3:c.T270G:p.D90E, PRDM7:uc010cje.3:exon3:c.T270G:p.D90E,PRDM7:uc010cjf.3:exon2:c.T51G:p.D17E, UNKNOWN Het;A>C 2674;139|123 Het;A>C 2447;152|116 Hom;A>C 7906;1|289 N N - 16 90142087 90142087 G A snp intronic PRDM7 Prdm9 ENSG00000126856 PR/SET domain 7 chr16:90122974-90158480 This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013] HIV Infections|[X]Human immunodeficiency virus disease; Heart Failure Mice homozygous for a knock-out allele show decreased oocyte number, azoospermia, and sterility in both sexes due to severe impairment of the double-stranded break repair pathway, deficient pairing of homologous chromosomes, and impaired sex body formation. Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM7 https://www.uniprot.org/uniprot/Q9NQW5 https://www.ncbi.nlm.nih.gov/omim/?term=609759 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM7&submit=Quick%0D%5982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM7 rs35256427 0.385982 0 0 1 0 0 intronic intronic intronic PRDM7 PRDM7 ENSG00000126856 Na Na Na Na Na Na Het;G>A 431;10|17 Het;G>A 166;5|6 Hom;G>A 309;0|9 N N - 16 9014385 9014385 G A snp intronic USP7 Usp7 ENSG00000187555 ubiquitin specific peptidase 7 chr16:8985951-9058371 The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016] prostate cancer; Tobacco Use Disorder; fertility; Hypertrophy, Left Ventricular; Heart Failure Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. Regulation of PTEN localization GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0010216;maintenance of DNA methylation;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;ISS|GO:0050821;protein stabilization;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:1904353;regulation of telomere capping;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IEA GO:0002039;p53 binding;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/USP7 https://www.ncbi.nlm.nih.gov/omim/?term=602519 http://www.informatics.jax.org/searchtool/Search.do?query=USP7&submit=Quick%0D%15844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP7 rs7189170 0.576478 0 0 1 0 0 intronic intronic intronic USP7 USP7 ENSG00000187555 Na Na Na Na Na Na Het;G>A 264;2|9 Het;G>A 195;5|9 Hom;G>A 209;0|6 N N - 16 9015258 9015258 T C snp intronic USP7 Usp7 ENSG00000187555 ubiquitin specific peptidase 7 chr16:8985951-9058371 The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016] prostate cancer; Tobacco Use Disorder; fertility; Hypertrophy, Left Ventricular; Heart Failure Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. Regulation of PTEN localization GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0010216;maintenance of DNA methylation;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0035616;histone H2B conserved C-terminal lysine deubiquitination;ISS|GO:0050821;protein stabilization;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:1904353;regulation of telomere capping;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IEA GO:0002039;p53 binding;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/USP7 https://www.ncbi.nlm.nih.gov/omim/?term=602519 http://www.informatics.jax.org/searchtool/Search.do?query=USP7&submit=Quick%0D%15844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP7 rs9940652 0.604233 0 0 1 0 0 intronic intronic intronic USP7 USP7 ENSG00000187555 Na Na Na Na Na Na Het;T>C 355;20|15 Het;T>C 599;20|22 Hom;T>C 1346;0|30 N N - 16 90160064 90160064 A G snp UTR5 -711A>G TUBB4Q rs7498369 0.151158 0 0.2509 1 0 0 intergenic UTR5 upstream PRDM7(dist=17726),FAM157C(dist=8608) TUBB4Q(uc002fqp.4:c.-711A>G) ENSG00000261812 Na Na Na Na Na Na Het;A>G 362;33|17 Het;A>G 243;26|12 Hom;A>G 1120;0|38 N N - 16 90160238 90160238 C T snp UTR5 -537C>T TUBB4Q rs7185617 0.557508 0 0.3745 1 0 0 intergenic UTR5 upstream PRDM7(dist=17900),FAM157C(dist=8434) TUBB4Q(uc002fqp.4:c.-537C>T) ENSG00000261812 Na Na Na Na Na Na Het;C>T 1030;24|27 Het;C>T 528;21|15 Hom;C>T 1585;0|36 N N - 16 90160246 90160246 G A snp UTR5 -529G>A TUBB4Q rs7184297 0.556709 0 0.3745 1 0 0 intergenic UTR5 upstream PRDM7(dist=17908),FAM157C(dist=8426) TUBB4Q(uc002fqp.4:c.-529G>A) ENSG00000261812 Na Na Na Na Na Na Het;G>A 1030;25|27 Het;G>A 528;21|15 Hom;G>A 1565;0|36 N N - 16 90161753 90161753 T C snp synonymous SNV T381C I127I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TUBB4Q rs6500470 0.289137 0 0.2836 1 0 0 intergenic exonic exonic PRDM7(dist=19415),FAM157C(dist=6919) TUBB4Q ENSG00000261812 Na synonymous SNV unknown Na TUBB4Q:uc002fqp.4:exon3:c.T381C:p.I127I, UNKNOWN Het;T>C 880;76|43 Het;T>C 1416;65|66 Hom;T>C 3571;0|129 N N - 16 9501479 9501479 C T snp ncRNA_exonic LINC02177 rs57267135 0.153554 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR548X(dist=172676),LINC01177(dist=33672) MIR548X(dist=172676),5S_rRNA(dist=156768) ENSG00000261617 Na Na Na Na Na Na Het;C>T 2656;135|110 Het;C>T 2862;145|132 Hom;C>T 7757;6|291 N N - 16 9501649 9501649 G C snp ncRNA_exonic LINC02177 rs55807290 0.201677 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR548X(dist=172846),LINC01177(dist=33502) MIR548X(dist=172846),5S_rRNA(dist=156598) ENSG00000261617 Na Na Na Na Na Na Het;G>C 1153;64|48 Het;G>C 1426;39|55 Hom;G>C 3191;1|103 N N - 16 9699252 9699252 G A snp intergenic LINC01195 rs8062754 0.674321 0 0 1 0 0 intergenic intergenic intergenic LINC01195(dist=149890),GRIN2A(dist=148010) 5S_rRNA(dist=5167),GRIN2A(dist=148013) ENSG00000252927(dist=5167),ENSG00000260362(dist=61490) Na Na Na Na Na Na Het;G>A 453;20|21 Het;G>A 301;19|15 Hom;G>A 835;0|30 N N - 16 986074 986074 A G snp intronic LMF1 Lmf1 ENSG00000103227 lipase maturation factor 1 chr16:903634-1031318 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] Tobacco Use Disorder Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. Assembly of active LPL and LIPC lipase complexes GO:0006641;triglyceride metabolic process;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0009306;protein secretion;IEA|GO:0033578;protein glycosylation in Golgi;IEA|GO:0034382;chylomicron remnant clearance;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051006;positive regulation of lipoprotein lipase activity;IEA|GO:0051604;protein maturation;IEA|GO:0090181;regulation of cholesterol metabolic process;IEA|GO:0090207;regulation of triglyceride metabolic process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMF1 https://www.uniprot.org/uniprot/Q96S06 https://hpo.jax.org/app/browse/search?q=LMF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611761 http://www.informatics.jax.org/searchtool/Search.do?query=LMF1&submit=Quick%0D%2989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF1 rs9674061 0.514577 0 0 1 0 0 intronic intronic intronic LMF1 LMF1 ENSG00000103227 Na Na Na Na Na Na Het;A>G 32;6|2 Ref Hom;A>G 61;0|3 N N - 16 988323 988339 GGTGGCTCGCGGGGACA G indel intronic LMF1 Lmf1 ENSG00000103227 lipase maturation factor 1 chr16:903634-1031318 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] Tobacco Use Disorder Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. Assembly of active LPL and LIPC lipase complexes GO:0006641;triglyceride metabolic process;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0009306;protein secretion;IEA|GO:0033578;protein glycosylation in Golgi;IEA|GO:0034382;chylomicron remnant clearance;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051006;positive regulation of lipoprotein lipase activity;IEA|GO:0051604;protein maturation;IEA|GO:0090181;regulation of cholesterol metabolic process;IEA|GO:0090207;regulation of triglyceride metabolic process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMF1 https://www.uniprot.org/uniprot/Q96S06 https://hpo.jax.org/app/browse/search?q=LMF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611761 http://www.informatics.jax.org/searchtool/Search.do?query=LMF1&submit=Quick%0D%2989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF1 rs60468209 0.534145 0 0 1 0 0 intronic intronic intronic LMF1 LMF1 ENSG00000103227 Na Na Na Na Na Na Het;-GTGGCTCGCGGGGACA 35;4|2 Het;-GTGGCTCGCGGGGACA 248;3|7 Hom;-GTGGCTCGCGGGGACA 213;0|5 N N - 16 988348 988348 G A snp intronic LMF1 Lmf1 ENSG00000103227 lipase maturation factor 1 chr16:903634-1031318 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] Tobacco Use Disorder Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. Assembly of active LPL and LIPC lipase complexes GO:0006641;triglyceride metabolic process;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0009306;protein secretion;IEA|GO:0033578;protein glycosylation in Golgi;IEA|GO:0034382;chylomicron remnant clearance;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051006;positive regulation of lipoprotein lipase activity;IEA|GO:0051604;protein maturation;IEA|GO:0090181;regulation of cholesterol metabolic process;IEA|GO:0090207;regulation of triglyceride metabolic process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMF1 https://www.uniprot.org/uniprot/Q96S06 https://hpo.jax.org/app/browse/search?q=LMF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611761 http://www.informatics.jax.org/searchtool/Search.do?query=LMF1&submit=Quick%0D%2989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF1 rs4984721 0.534545 0 0 1 0 0 intronic intronic intronic LMF1 LMF1 ENSG00000103227 Na Na Na Na Na Na Het;G>A 44;4|2 Het;G>A 237;3|7 Hom;G>A 222;0|6 N N - 17 14075608 14075608 A G snp intronic COX10 Cox10 ENSG00000006695 COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor chr17:13972813-14111994 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease ; Echocardiography Heme biosynthesis GO:0000266;mitochondrial fission;IEA|GO:0006123;mitochondrial electron transport, cytochrome c to oxygen;IC|GO:0006783;heme biosynthetic process;TAS|GO:0006784;heme a biosynthetic process;IMP|GO:0007005;mitochondrion organization;IEA|GO:0008535;respiratory chain complex IV assembly;IMP|GO:0009060;aerobic respiration;IEA|GO:0017004;cytochrome complex assembly;IEA|GO:0045333;cellular respiration;IGI|GO:0048034;heme O biosynthetic process;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0070069;cytochrome complex;IMP GO:0004129;cytochrome-c oxidase activity;IMP|GO:0004311;farnesyltranstransferase activity;TAS|GO:0008495;protoheme IX farnesyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016765;transferase activity, transferring alkyl or aryl (other than methyl) groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/COX10 https://www.uniprot.org/uniprot/Q12887 https://hpo.jax.org/app/browse/search?q=COX10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602125 http://www.informatics.jax.org/searchtool/Search.do?query=COX10&submit=Quick%0D%415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COX10 rs2530365 0.561102 0 0 1 0 0 intronic intronic intronic COX10 COX10 ENSG00000006695 Na Na Na Na Na Na Het;A>G 227;10|9 Het;A>G 96;10|7 Hom;A>G 126;0|4 N N - 17 14095309 14095309 A G snp synonymous SNV A699G P233P hydrophobic,neutral hydrophobic,neutral COX10 Cox10 ENSG00000006695 COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor chr17:13972813-14111994 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease ; Echocardiography Heme biosynthesis GO:0000266;mitochondrial fission;IEA|GO:0006123;mitochondrial electron transport, cytochrome c to oxygen;IC|GO:0006783;heme biosynthetic process;TAS|GO:0006784;heme a biosynthetic process;IMP|GO:0007005;mitochondrion organization;IEA|GO:0008535;respiratory chain complex IV assembly;IMP|GO:0009060;aerobic respiration;IEA|GO:0017004;cytochrome complex assembly;IEA|GO:0045333;cellular respiration;IGI|GO:0048034;heme O biosynthetic process;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0070069;cytochrome complex;IMP GO:0004129;cytochrome-c oxidase activity;IMP|GO:0004311;farnesyltranstransferase activity;TAS|GO:0008495;protoheme IX farnesyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016765;transferase activity, transferring alkyl or aryl (other than methyl) groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/COX10 https://www.uniprot.org/uniprot/Q12887 https://hpo.jax.org/app/browse/search?q=COX10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602125 http://www.informatics.jax.org/searchtool/Search.do?query=COX10&submit=Quick%0D%415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COX10 rs2230354 0.548323 0.5534 0.5850 1 0 0 exonic exonic exonic COX10 COX10 ENSG00000006695 synonymous SNV synonymous SNV unknown COX10:NM_001303:exon6:c.A699G:p.P233P, COX10:uc010vvs.2:exon5:c.A48G:p.P16P,COX10:uc010vvt.2:exon5:c.A123G:p.P41P,COX10:uc002gof.4:exon6:c.A699G:p.P233P, UNKNOWN Het;A>G 609;27|24 Het;A>G 713;21|31 Hom;A>G 1394;0|47 N N - 17 14095682 14095682 T C snp intronic COX10 Cox10 ENSG00000006695 COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor chr17:13972813-14111994 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease ; Echocardiography Heme biosynthesis GO:0000266;mitochondrial fission;IEA|GO:0006123;mitochondrial electron transport, cytochrome c to oxygen;IC|GO:0006783;heme biosynthetic process;TAS|GO:0006784;heme a biosynthetic process;IMP|GO:0007005;mitochondrion organization;IEA|GO:0008535;respiratory chain complex IV assembly;IMP|GO:0009060;aerobic respiration;IEA|GO:0017004;cytochrome complex assembly;IEA|GO:0045333;cellular respiration;IGI|GO:0048034;heme O biosynthetic process;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0070069;cytochrome complex;IMP GO:0004129;cytochrome-c oxidase activity;IMP|GO:0004311;farnesyltranstransferase activity;TAS|GO:0008495;protoheme IX farnesyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016765;transferase activity, transferring alkyl or aryl (other than methyl) groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/COX10 https://www.uniprot.org/uniprot/Q12887 https://hpo.jax.org/app/browse/search?q=COX10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602125 http://www.informatics.jax.org/searchtool/Search.do?query=COX10&submit=Quick%0D%415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COX10 rs2158978 0.553914 0 0 1 0 0 intronic intronic intronic COX10 COX10 ENSG00000006695 Na Na Na Na Na Na Het;T>C 772;31|32 Het;T>C 1036;32|38 Hom;T>C 1834;0|64 N N - 17 14302800 14302800 T C snp ncRNA_intronic AC022816.1 rs74923452 0.235623 0 0 1 0 0 intergenic intergenic ncRNA_intronic HS3ST3B1(dist=50079),CDRT7(dist=631492) HS3ST3B1(dist=53308),CDRT7(dist=631492) ENSG00000230647 Na Na Na Na Na Na Het;T>C 929;70|51 Het;T>C 808;50|42 Hom;T>C 2157;5|92 N N - 17 15133705 15133707 CAG C indel UTR3 *529_*527delinsG PMP22 Pmp22 ENSG00000109099 peripheral myelin protein 22 chr17:15133095-15168643 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth disease type 1A; polyneuropathy; Charcot-Marie-Tooth Disease|Hereditary Sensory and Motor Neuropathy; Charcot-Marie-Tooth disease; Multiple Sclerosis; Dejerine-Sottas neuropathy; Type 2 Diabetes| edema | rosiglitazone; neuropathy, Charcot-Marie-Tooth; Sleep Apnea, Obstructive Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile. GO:0007268;chemical synaptic transmission;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008219;cell death;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030154;cell differentiation;IEA|GO:0032060;bleb assembly;IDA|GO:0042552;myelination;IEA GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043218;compact myelin;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PMP22 https://www.uniprot.org/uniprot/Q01453 https://hpo.jax.org/app/browse/search?q=PMP22&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601097 http://www.informatics.jax.org/searchtool/Search.do?query=PMP22&submit=Quick%0D%3814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMP22 rs71699667 0.319289 0 0 1 0 0 UTR3 UTR3 UTR3 PMP22(NM_001281455:c.*529_*527delinsG,NM_153321:c.*529_*527delinsG,NM_153322:c.*529_*527delinsG,NM_001281456:c.*529_*527delinsG,NM_000304:c.*529_*527delinsG) PMP22(uc002goj.3:c.*529_*527delinsG,uc002gok.3:c.*529_*527delinsG,uc002gol.3:c.*529_*527delinsG) ENSG00000109099(ENST00000312280:c.*529_*527delinsG,ENST00000395938:c.*529_*527delinsG) Na Na Na Na Na Na Het;-AG 2754;91|75 Het;-AG 2526;76|68 Hom;-AG 6669;0|154 N N - 17 15134175 15134175 T G snp unknown PMP22 Pmp22 ENSG00000109099 peripheral myelin protein 22 chr17:15133095-15168643 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth disease type 1A; polyneuropathy; Charcot-Marie-Tooth Disease|Hereditary Sensory and Motor Neuropathy; Charcot-Marie-Tooth disease; Multiple Sclerosis; Dejerine-Sottas neuropathy; Type 2 Diabetes| edema | rosiglitazone; neuropathy, Charcot-Marie-Tooth; Sleep Apnea, Obstructive Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile. GO:0007268;chemical synaptic transmission;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008219;cell death;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030154;cell differentiation;IEA|GO:0032060;bleb assembly;IDA|GO:0042552;myelination;IEA GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043218;compact myelin;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PMP22 https://www.uniprot.org/uniprot/Q01453 https://hpo.jax.org/app/browse/search?q=PMP22&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601097 http://www.informatics.jax.org/searchtool/Search.do?query=PMP22&submit=Quick%0D%3814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMP22 rs13422 0.595447 0 0.5351 0.50 2 4 UTR3 UTR3 exonic PMP22(NM_001281455:c.*59A>C,NM_153321:c.*59A>C,NM_153322:c.*59A>C,NM_001281456:c.*59A>C,NM_000304:c.*59A>C) PMP22(uc002goj.3:c.*59A>C,uc002gok.3:c.*59A>C,uc002gol.3:c.*59A>C) ENSG00000109099 Na Na unknown Na Na UNKNOWN Het;T>G 4710;166|191 Het;T>G 3442;141|151 Hom;T>G 9219;0|323 N N - 17 15143011 15143011 A G snp intronic PMP22 Pmp22 ENSG00000109099 peripheral myelin protein 22 chr17:15133095-15168643 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth disease type 1A; polyneuropathy; Charcot-Marie-Tooth Disease|Hereditary Sensory and Motor Neuropathy; Charcot-Marie-Tooth disease; Multiple Sclerosis; Dejerine-Sottas neuropathy; Type 2 Diabetes| edema | rosiglitazone; neuropathy, Charcot-Marie-Tooth; Sleep Apnea, Obstructive Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile. GO:0007268;chemical synaptic transmission;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008219;cell death;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030154;cell differentiation;IEA|GO:0032060;bleb assembly;IDA|GO:0042552;myelination;IEA GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043218;compact myelin;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PMP22 https://www.uniprot.org/uniprot/Q01453 https://hpo.jax.org/app/browse/search?q=PMP22&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601097 http://www.informatics.jax.org/searchtool/Search.do?query=PMP22&submit=Quick%0D%3814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMP22 rs230950 0.596645 0 0 1 0 0 intronic intronic intronic PMP22 PMP22 ENSG00000109099 Na Na Na Na Na Na Het;A>G 1275;84|58 Het;A>G 1159;63|50 Hom;A>G 2628;0|90 N N - 17 15162389 15162389 T C snp intronic PMP22 Pmp22 ENSG00000109099 peripheral myelin protein 22 chr17:15133095-15168643 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth disease type 1A; polyneuropathy; Charcot-Marie-Tooth Disease|Hereditary Sensory and Motor Neuropathy; Charcot-Marie-Tooth disease; Multiple Sclerosis; Dejerine-Sottas neuropathy; Type 2 Diabetes| edema | rosiglitazone; neuropathy, Charcot-Marie-Tooth; Sleep Apnea, Obstructive Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile. GO:0007268;chemical synaptic transmission;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008219;cell death;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0030154;cell differentiation;IEA|GO:0032060;bleb assembly;IDA|GO:0042552;myelination;IEA GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043218;compact myelin;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PMP22 https://www.uniprot.org/uniprot/Q01453 https://hpo.jax.org/app/browse/search?q=PMP22&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601097 http://www.informatics.jax.org/searchtool/Search.do?query=PMP22&submit=Quick%0D%3814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMP22 rs231020 0.610423 0.6051 0.5502 1 0 0 intronic intronic intronic PMP22 PMP22 ENSG00000109099 Na Na Na Na Na Na Het;T>C 1800;72|77 Het;T>C 1306;64|61 Hom;T>C 3255;5|125 N N - 17 15406123 15406127 CCTCT C indel UTR3 *55_*51delinsG TVP23C Tvp23b ENSG00000175106 trans-golgi network vesicle protein 23 homolog C chr17:15341205-15466909 Tobacco Use Disorder GO:0009306;protein secretion;IBA|GO:0016192;vesicle-mediated transport;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA http://www.genecards.org/index.php?path=/Search/keyword/TVP23C http://www.informatics.jax.org/searchtool/Search.do?query=TVP23C&submit=Quick%0D%13637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TVP23C rs550034279 0.321486 0.4632 0 1 0 0 UTR3 UTR3 UTR3 TVP23C(NM_145301:c.*55_*51delinsG) TVP23C(uc002goq.2:c.*55_*51delinsG) ENSG00000175106(ENST00000225576:c.*55_*51delinsG) Na Na Na Na Na Na Het;-CTCT 153;3|5 Ref Hom;-CTCT 443;0|11 N N - 17 15643382 15643382 A AC indel ncRNA_intronic AC005324.1 rs11429009 0.0333466 0 0.4859 1 0 0 intronic intronic ncRNA_intronic TBC1D26 TBC1D26 ENSG00000233002 Na Na Na Na Na Na Het;+C 1142;94|68 Het;+C 723;83|46 Hom;+C 2767;9|121 N N - 17 15644392 15644392 T C snp ncRNA_intronic AC005324.1 rs7222367 0.261781 0.2055 0.2283 1 0 0 intronic intronic ncRNA_intronic TBC1D26 TBC1D26 ENSG00000233002 Na Na Na Na Na Na Het;T>C 1010;23|40 Het;T>C 863;35|34 Hom;T>C 1547;0|57 N N - 17 15668330 15668330 G C snp ncRNA_intronic CDRT15P2 rs2955833 0.603035 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CDRT15P2 CDRT15P2 ENSG00000227255 Na Na Na Na Na Na Het;G>C 1942;50|69 Het;G>C 1255;49|48 Hom;G>C 3835;2|124 N N - 17 15668720 15668720 C G snp ncRNA_intronic CDRT15P2 rs935147 0.601438 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CDRT15P2 CDRT15P2 ENSG00000227255 Na Na Na Na Na Na Het;C>G 901;53|40 Het;C>G 1230;38|51 Hom;C>G 1978;2|64 N N - 17 15668775 15668775 A G snp ncRNA_intronic CDRT15P2 rs1814454 0.602835 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CDRT15P2 CDRT15P2 ENSG00000227255 Na Na Na Na Na Na Het;A>G 1179;73|53 Het;A>G 1540;44|69 Hom;A>G 2603;3|95 N N - 17 15673784 15673784 C T snp ncRNA_exonic ZSWIM5P1 rs7208480 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic CDRT15P2(dist=4781),MEIS3P1(dist=16380) CDRT15P2(dist=4781),MEIS3P1(dist=16380) ENSG00000235430 Na Na Na Na Na Na Het;C>T 287;16|14 Het;C>T 508;12|23 Hom;C>T 1230;0|47 N N - 17 15870401 15870401 T A snp intronic ADORA2B Adora2b ENSG00000170425 adenosine A2b receptor chr17:15848231-15879060 This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] several psychiatric disorders; atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Asthma|Drug Hypersensitivity| Homozygous mutation of this gene results in low-grade inflammation, augmentation of proinflammatory cytokines and increased leukocyte adhesion to the vasculature. Surfactant metabolism GO:0000187;activation of MAPK activity;TAS|GO:0001973;adenosine receptor signaling pathway;IEA|GO:0002882;positive regulation of chronic inflammatory response to non-antigenic stimulus;IEA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007254;JNK cascade;TAS|GO:0007588;excretion;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0031284;positive regulation of guanylate cyclase activity;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0043306;positive regulation of mast cell degranulation;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0060087;relaxation of vascular smooth muscle;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001609;G-protein coupled adenosine receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADORA2B https://www.ncbi.nlm.nih.gov/omim/?term=600446 http://www.informatics.jax.org/searchtool/Search.do?query=ADORA2B&submit=Quick%0D%12701ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADORA2B rs2779207 0.521166 0 0 1 0 0 intronic intronic intronic ADORA2B ADORA2B ENSG00000170425 Na Na Na Na Na Na Het;T>A 141;2|8 Het;T>A 42;4|3 Hom;T>A 625;0|24 N N - 17 15884227 15884227 A G snp intronic ZSWIM7 Zswim7 ENSG00000214941 zinc finger SWIM-type containing 7 chr17:15879874-15903031 Mice homozygous for a knock-out allele exhibit female and male infertility with decreased testis and ovary weights, azoospermia, absent ovarian follicles and impaired chromosomal synapsis. GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;IEA|GO:0097196;Shu complex;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM7 https://www.ncbi.nlm.nih.gov/omim/?term=614535 http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM7&submit=Quick%0D%18289ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM7 rs2286796 0.539936 0 0 1 0 0 intronic intronic intronic ZSWIM7 ZSWIM7 ENSG00000214941 Na Na Na Na Na Na Het;A>G 108;2|4 Het;A>G 140;6|5 Hom;A>G 217;0|6 N N - 17 15884561 15884561 C T snp intronic ZSWIM7 Zswim7 ENSG00000214941 zinc finger SWIM-type containing 7 chr17:15879874-15903031 Mice homozygous for a knock-out allele exhibit female and male infertility with decreased testis and ovary weights, azoospermia, absent ovarian follicles and impaired chromosomal synapsis. GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;IEA|GO:0097196;Shu complex;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM7 https://www.ncbi.nlm.nih.gov/omim/?term=614535 http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM7&submit=Quick%0D%18289ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM7 rs10491104 0.36901 0 0 1 0 0 intronic intronic intronic ZSWIM7 ZSWIM7 ENSG00000214941 Na Na Na Na Na Na Het;C>T 272;8|11 Het;C>T 85;8|4 Hom;C>T 355;0|14 N N - 17 15905190 15905190 A G snp intronic TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs3760298 0.346645 0.4648 0.4612 1 0 0 intronic intronic intronic TTC19 TTC19 ENSG00000011295 Na Na Na Na Na Na Het;A>G 209;29|13 Het;A>G 336;17|13 Hom;A>G 1100;0|40 N N - 17 15909728 15909728 A G snp intronic TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs3760297 0.534545 0 0 1 0 0 intronic intronic intronic TTC19 TTC19 ENSG00000011295 Na Na Na Na Na Na Het;A>G 377;30|20 Het;A>G 493;22|22 Hom;A>G 1123;0|43 N N - 17 15928584 15928584 T G snp intronic TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs2301652 0.410343 0 0 1 0 0 intronic intronic intronic TTC19 TTC19 ENSG00000011295 Na Na Na Na Na Na Het;T>G 475;23|20 Het;T>G 293;13|12 Hom;T>G 943;1|32 N N - 17 15928600 15928600 G C snp intronic TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs2301651 0.361821 0 0 1 0 0 intronic intronic intronic TTC19 TTC19 ENSG00000011295 Na Na Na Na Na Na Het;G>C 472;19|18 Het;G>C 253;11|9 Hom;G>C 772;0|24 N N - 17 15930087 15930087 G A snp UTR3 *63G>A TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs35168566 0.492412 0 0 1 0 0 intronic UTR3 UTR3 TTC19 TTC19(uc002gpk.4:c.*63G>A) ENSG00000011295(ENST00000578103:c.*63G>A) Na Na Na Na Na Na Het;G>A 560;20|25 Het;G>A 783;34|36 Hom;G>A 1894;0|67 N N - 17 15932071 15932071 C CTT indel UTR3 *1235C>CTT TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs386385756 0.494409 0 0.4930 1 0 0 UTR3 UTR3 UTR3 TTC19(NM_017775:c.*1235C>CTT,NM_001271420:c.*1235C>CTT) TTC19(uc002gph.3:c.*1235C>CTT,uc021tqp.2:c.*1235C>CTT,uc002gpk.4:c.*2047C>CTT,uc002gpj.3:c.*1235C>CTT) ENSG00000011295(ENST00000261647:c.*1235C>CTT,ENST00000486880:c.*1235C>CTT,ENST00000475723:c.*2062C>CTT) Na Na Na Na Na Na Het;+TT 364;14|11 Het;+TT 692;24|21 Hom;+TT 2054;0|51 N N - 17 15932425 15932425 T C snp UTR3 *1589T>C TTC19 Ttc19 ENSG00000011295 tetratricopeptide repeat domain 19 chr17:15902694-15948329 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit a slight reduction in locomotor activity. GO:0000910;cytokinesis;TAS|GO:0007049;cell cycle;IEA|GO:0034551;mitochondrial respiratory chain complex III assembly;IMP|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC19 https://www.uniprot.org/uniprot/Q6DKK2 https://hpo.jax.org/app/browse/search?q=TTC19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613814 http://www.informatics.jax.org/searchtool/Search.do?query=TTC19&submit=Quick%0D%552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC19 rs117133932 0.0159744 0 0.0251 1 0 0 UTR3 UTR3 intronic TTC19(NM_017775:c.*1589T>C,NM_001271420:c.*1589T>C) TTC19(uc002gph.3:c.*1589T>C,uc021tqp.2:c.*1589T>C,uc002gpj.3:c.*1589T>C) ENSG00000011295 Na Na Na Na Na Na Het;T>C 452;14|21 Het;T>C 838;45|36 Hom;T>C 2276;4|87 N N - 17 15932627 15932627 T C snp UTR3 *2983A>G NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs9890012 0.367412 0 0.4462 1 0 0 UTR3 UTR3 UTR3 TTC19(NM_017775:c.*1791T>C,NM_001271420:c.*1791T>C) TTC19(uc002gph.3:c.*1791T>C,uc021tqp.2:c.*1791T>C,uc002gpj.3:c.*1791T>C) ENSG00000141027(ENST00000268712:c.*2983A>G) Na Na Na Na Na Na Het;T>C 715;27|32 Het;T>C 1131;45|50 Hom;T>C 2135;2|77 N N - 17 15932820 15932820 G C snp UTR3 *2790C>G NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs9916868 0.49381 0 0 1 0 0 downstream downstream UTR3 NCOR1,TTC19 NCOR1,TTC19 ENSG00000141027(ENST00000268712:c.*2790C>G) Na Na Na Na Na Na Het;G>C 284;15|13 Het;G>C 729;26|28 Hom;G>C 1187;0|39 N N - 17 15943910 15943910 T C snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs1075901 0.50639 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000011295,ENSG00000141027,ENSG00000227782 Na Na Na Na Na Na Het;T>C 219;11|9 Het;T>C 197;4|7 Hom;T>C 261;0|8 N N - 17 15950198 15950198 G A snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs1079533 0.314297 0 0.4578 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;G>A 198;12|8 Het;G>A 469;11|14 Hom;G>A 913;0|27 N N - 17 15961951 15961951 A G snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2157991 0.432308 0.5470 0.5033 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;A>G 834;45|34 Het;A>G 753;35|34 Hom;A>G 1897;0|68 N N - 17 15961993 15961993 T A snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2157990 0.488818 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;T>A 548;37|23 Het;T>A 467;27|22 Hom;T>A 1431;0|53 N N - 17 15968143 15968143 T C snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2285583 0.583067 0.6685 0.5579 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;T>C 1264;43|47 Het;T>C 855;50|37 Hom;T>C 1660;0|54 N N - 17 15968673 15968673 G A snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2285582 0.510383 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;G>A 138;4|5 Het;G>A 355;6|12 Hom;G>A 321;0|10 N N - 17 15973844 15973844 A T snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs12942295 0.351637 0.4745 0.4577 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;A>T 1484;65|65 Het;A>T 1575;61|67 Hom;A>T 3089;0|102 N N - 17 15977005 15977005 A T snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs11078330 0.309505 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;A>T 209;6|8 Het;A>T 172;10|9 Hom;A>T 620;0|21 N N - 17 15977043 15977043 C T snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs9896441 0.433506 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;C>T 106;4|4 Het;C>T 144;4|6 Hom;C>T 293;0|10 N N - 17 16005187 16005187 T C snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2285580 0.510783 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;T>C 357;15|13 Het;T>C 399;10|17 Hom;T>C 1010;0|32 N N - 17 16041636 16041636 T C snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2875265 0.430911 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;T>C 204;1|8 Het;T>C 98;3|4 Hom;T>C 143;0|6 N N - 17 16046845 16046845 A T snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs2285579 0.509984 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;A>T 72;3|3 Het;A>T 136;5|6 Hom;A>T 365;0|13 N N - 17 16049626 16049626 A T snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs11078333 0.324281 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;A>T 438;21|24 Het;A>T 407;14|21 Hom;A>T 798;0|33 N N - 17 16065477 16065477 G A snp intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs178653 0.430711 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;G>A 115;14|7 Ref Hom;G>A 737;0|27 N N - 17 16097602 16097602 T TAAG indel intronic NCOR1 Ncor1 ENSG00000141027 nuclear receptor corepressor 1 chr17:15932471-16121499 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] Type 2 Diabetes| edema | rosiglitazone; breast cancer ; epithelial ovarian cancer ; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007623;circadian rhythm;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0046329;negative regulation of JNK cascade;IDA|GO:0051225;spindle assembly;IMP|GO:0072362;regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0072368;regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter;IMP|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000191;regulation of fatty acid transport;IC GO:0000118;histone deacetylase complex;IDA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0016580;Sin3 complex;IDA|GO:0017053;transcriptional repressor complex;IDA GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0016922;ligand-dependent nuclear receptor binding;IBA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0044212;transcription regulatory region DNA binding;ISS|GO:0046966;thyroid hormone receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NCOR1 https://www.uniprot.org/uniprot/O75376 https://www.ncbi.nlm.nih.gov/omim/?term=600849 http://www.informatics.jax.org/searchtool/Search.do?query=NCOR1&submit=Quick%0D%8112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOR1 rs113022990 0.486621 0 0 1 0 0 intronic intronic intronic NCOR1 NCOR1 ENSG00000141027 Na Na Na Na Na Na Het;+AAG 68;7|1 Ref Hom;+AAG 143;0|4 N N - 17 16253229 16253229 A G snp intronic CENPV Cenpv ENSG00000166582 centromere protein V chr17:16245848-16256970 GO:0001667;ameboidal-type cell migration;IDA|GO:0007049;cell cycle;IEA|GO:0008152;metabolic process;IEA|GO:0031508;pericentric heterochromatin assembly;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0034508;centromere complex assembly;IMP|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0051233;spindle midzone;IDA GO:0003674;molecular_function;ND|GO:0016846;carbon-sulfur lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CENPV https://www.ncbi.nlm.nih.gov/omim/?term=608139 http://www.informatics.jax.org/searchtool/Search.do?query=CENPV&submit=Quick%0D%11831ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPV rs192528929 0.0167732 0.0131 0.0409 1 0 0 intronic intronic intronic CENPV CENPV ENSG00000166582 Na Na Na Na Na Na Het;A>G 548;12|28 Het;A>G 263;20|16 Hom;A>G 732;0|31 N N - 17 16256686 16256686 G GCGGAGGCCC indel nonframeshift substitution 65_65delinsGGGCCTCCGC CENPV Cenpv ENSG00000166582 centromere protein V chr17:16245848-16256970 GO:0001667;ameboidal-type cell migration;IDA|GO:0007049;cell cycle;IEA|GO:0008152;metabolic process;IEA|GO:0031508;pericentric heterochromatin assembly;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0034508;centromere complex assembly;IMP|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0051233;spindle midzone;IDA GO:0003674;molecular_function;ND|GO:0016846;carbon-sulfur lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CENPV https://www.ncbi.nlm.nih.gov/omim/?term=608139 http://www.informatics.jax.org/searchtool/Search.do?query=CENPV&submit=Quick%0D%11831ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPV rs539910742 0.533746 0.2774 0.3125 1 0 0 exonic exonic exonic CENPV CENPV ENSG00000166582 nonframeshift substitution nonframeshift substitution unknown CENPV:NM_181716:exon1:c.65_65delinsGGGCCTCCGC, CENPV:uc002gpw.3:exon1:c.65_65delinsGGGCCTCCGC, UNKNOWN Het;+CGGAGGCCC 275;1|8 Ref Hom;+CGGAGGCCC 212;0|6 N N - 17 16694041 16694041 A G snp ncRNA_intronic USP32P1 rs3107676 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic USP32P1 USP32P1 ENSG00000188933,ENSG00000272815 Na Na Na Na Na Na Het;A>G 644;4|19 Het;A>G 506;5|15 Hom;A>G 175;0|5 N N - 17 16715808 16715808 G GCTGCTGGAGGAGTTCCCATCCCTGCAGGTGT indel ncRNA_exonic NOS2P4 rs151287910 0.563299 0 0 1 0 0 intergenic intergenic ncRNA_exonic USP32P1(dist=7989),KRT16P2(dist=17989) USP32P1(dist=7989),KRT16P2(dist=17989) ENSG00000264892,ENSG00000272815 Na Na Na Na Na Na Het;+CTGCTGGAGGAGTTCCCATCCCTGCAGGTGT 2110;67|60 Het;+CTGCTGGAGGAGTTCCCATCCCTGCAGGTGT 1627;61|50 Hom;+CTGCTGGAGGAGTTCCCATCCCTGCAGGTGT 2526;0|65 N N - 17 16721538 16721538 T C snp ncRNA_exonic KRT16P6 rs2688024 0.9375 0 0 1 0 0 intergenic intergenic ncRNA_exonic USP32P1(dist=13719),KRT16P2(dist=12259) USP32P1(dist=13719),KRT16P2(dist=12259) ENSG00000226145 Na Na Na Na Na Na Het;T>C 5090;123|216 Het;T>C 8459;91|355 Hom;T>C 8277;0|306 N N - 17 16722068 16722068 A C snp ncRNA_intronic KRT16P6 rs2688023 0.9377 0 0 1 0 0 intergenic intergenic ncRNA_intronic USP32P1(dist=14249),KRT16P2(dist=11729) USP32P1(dist=14249),KRT16P2(dist=11729) ENSG00000226145 Na Na Na Na Na Na Het;A>C 306;6|12 Het;A>C 202;4|7 Hom;A>C 336;0|11 N N - 17 16723074 16723079 CTTTTT C indel ncRNA_intronic KRT16P6 rs768930497 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic USP32P1(dist=15255),KRT16P2(dist=10718) USP32P1(dist=15255),KRT16P2(dist=10718) ENSG00000226145 Na Na Na Na Na Na Het;-TTTTT 97;7|5 Het;-TTTTT 275;4|9 Hom;-TTTTT 289;0|8 N N - 17 16723212 16723212 C T snp ncRNA_intronic KRT16P6 rs2688022 0.941294 0 0 1 0 0 intergenic intergenic ncRNA_intronic USP32P1(dist=15393),KRT16P2(dist=10585) USP32P1(dist=15393),KRT16P2(dist=10585) ENSG00000226145 Na Na Na Na Na Na Het;C>T 875;21|33 Het;C>T 1167;19|42 Hom;C>T 1111;0|36 N N - 17 16724049 16724049 C T snp ncRNA_exonic KRT16P6 rs2688020 0.932708 0 0 1 0 0 intergenic intergenic ncRNA_exonic USP32P1(dist=16230),KRT16P2(dist=9748) USP32P1(dist=16230),KRT16P2(dist=9748) ENSG00000226145 Na Na Na Na Na Na Het;C>T 1019;16|45 Het;C>T 1288;11|57 Hom;C>T 1218;0|46 N N - 17 16725570 16725570 G A snp ncRNA_exonic KRT16P6 rs2621711 0.933107 0 0 1 0 0 intergenic intergenic ncRNA_exonic USP32P1(dist=17751),KRT16P2(dist=8227) USP32P1(dist=17751),KRT16P2(dist=8227) ENSG00000226145 Na Na Na Na Na Na Het;G>A 4330;85|180 Het;G>A 6180;79|241 Hom;G>A 6272;0|224 N N - 17 16733874 16733874 G A snp ncRNA_exonic KRT16P2 rs62074144 0.854034 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic KRT16P2 KRT16P2(uc010vwr.1:c.*489C>T) ENSG00000227300 Na Na Na Na Na Na Het;G>A 4258;84|174 Het;G>A 3900;96|177 Hom;G>A 5075;2|193 N N - 17 16734163 16734163 C T snp ncRNA_exonic KRT16P2 rs2688011 0.857827 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic KRT16P2 KRT16P2(uc010vwr.1:c.*200G>A) ENSG00000227300 Na Na Na Na Na Na Het;C>T 3238;140|135 Het;C>T 5137;135|208 Hom;C>T 4996;0|172 N N - 17 16735618 16735618 G A snp nonsynonymous SNV C88T R30C polar,hydrophilic,charged(+) polar,hydrophobic,neutral KRT16P2 rs645134 0.927716 0 0.9030 1 0 0 ncRNA_exonic exonic ncRNA_exonic KRT16P2 KRT16P2 ENSG00000227300 Na nonsynonymous SNV Na Na KRT16P2:uc010vwr.1:exon1:c.C88T:p.R30C, Na Het;G>A 3771;86|159 Het;G>A 3977;73|163 Hom;G>A 6042;0|226 N N - 17 16745184 16745185 GA G indel ncRNA_intronic KRT17P1 rs367571314 0.729633 0 0 1 0 0 intergenic intergenic ncRNA_intronic KRT16P2(dist=9037),TNFRSF13B(dist=97213) KRT16P2(dist=9037),FLJ00050(dist=81044) ENSG00000131885 Na Na Na Na Na Na Het;-A 130;4|8 Ref Hom;-A 139;0|7 N N - 17 16746358 16746358 G A snp ncRNA_exonic KRT17P1 rs682770 0.790136 0 0.8328 1 0 0 intergenic intergenic ncRNA_exonic KRT16P2(dist=10211),TNFRSF13B(dist=96040) KRT16P2(dist=10211),FLJ00050(dist=79871) ENSG00000131885 Na Na Na Na Na Na Het;G>A 748;9|33 Het;G>A 1178;17|49 Hom;G>A 1159;0|46 N N - 17 16748785 16748785 T C snp ncRNA_exonic KRT17P1 rs648867 0.765974 0 0.7968 1 0 0 intergenic intergenic ncRNA_exonic KRT16P2(dist=12638),TNFRSF13B(dist=93613) KRT16P2(dist=12638),FLJ00050(dist=77444) ENSG00000131885 Na Na Na Na Na Na Het;T>C 726;22|20 Het;T>C 863;17|22 Hom;T>C 397;0|10 N N - 17 16946343 16946343 G C snp intronic MPRIP Mprip ENSG00000133030 myosin phosphatase Rho interacting protein chr17:16945859-17120993 Aorta Signaling by BRAF and RAF fusions GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MPRIP https://www.uniprot.org/uniprot/Q6WCQ1 https://www.ncbi.nlm.nih.gov/omim/?term=612935 http://www.informatics.jax.org/searchtool/Search.do?query=MPRIP&submit=Quick%0D%6782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPRIP rs61242604 0.451677 0 0 1 0 0 intronic intronic intronic MPRIP MPRIP ENSG00000133030 Na Na Na Na Na Na Het;G>C 370;23|18 Het;G>C 324;23|15 Hom;G>C 890;1|32 N N - 17 17045861 17045861 C T snp intronic MPRIP Mprip ENSG00000133030 myosin phosphatase Rho interacting protein chr17:16945859-17120993 Aorta Signaling by BRAF and RAF fusions GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MPRIP https://www.uniprot.org/uniprot/Q6WCQ1 https://www.ncbi.nlm.nih.gov/omim/?term=612935 http://www.informatics.jax.org/searchtool/Search.do?query=MPRIP&submit=Quick%0D%6782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPRIP rs3744138 0.444688 0 0 1 0 0 intronic intronic intronic MPRIP MPRIP ENSG00000133030 Na Na Na Na Na Na Het;C>T 482;14|17 Het;C>T 506;13|17 Hom;C>T 823;0|26 N N - 17 17046024 17046024 C A snp nonsynonymous SNV C980A P327Q hydrophobic,neutral polar,hydrophilic,neutral MPRIP Mprip ENSG00000133030 myosin phosphatase Rho interacting protein chr17:16945859-17120993 Aorta Signaling by BRAF and RAF fusions GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MPRIP https://www.uniprot.org/uniprot/Q6WCQ1 https://www.ncbi.nlm.nih.gov/omim/?term=612935 http://www.informatics.jax.org/searchtool/Search.do?query=MPRIP&submit=Quick%0D%6782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPRIP rs3744137 0.444688 0.3963 0.5060 0.08 1 12 exonic exonic exonic MPRIP MPRIP ENSG00000133030 nonsynonymous SNV nonsynonymous SNV unknown MPRIP:NM_201274:exon8:c.C980A:p.P327Q,MPRIP:NM_015134:exon8:c.C980A:p.P327Q, MPRIP:uc002gqu.2:exon8:c.C980A:p.P327Q,MPRIP:uc002gqv.2:exon8:c.C980A:p.P327Q,MPRIP:uc002gqw.2:exon3:c.C359A:p.P120Q, UNKNOWN Het;C>A 1376;80|62 Het;C>A 2131;72|91 Hom;C>A 4072;0|145 N N - 17 17050573 17050573 G A snp intronic MPRIP Mprip ENSG00000133030 myosin phosphatase Rho interacting protein chr17:16945859-17120993 Aorta Signaling by BRAF and RAF fusions GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MPRIP https://www.uniprot.org/uniprot/Q6WCQ1 https://www.ncbi.nlm.nih.gov/omim/?term=612935 http://www.informatics.jax.org/searchtool/Search.do?query=MPRIP&submit=Quick%0D%6782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPRIP rs3744134 0.497204 0.5018 0 1 0 0 intronic intronic intronic MPRIP MPRIP ENSG00000133030 Na Na Na Na Na Na Het;G>A 61;5|3 Het;G>A 297;8|12 Hom;G>A 484;0|18 N N - 17 17062241 17062241 C G snp synonymous SNV C1971G A657A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MPRIP Mprip ENSG00000133030 myosin phosphatase Rho interacting protein chr17:16945859-17120993 Aorta Signaling by BRAF and RAF fusions GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MPRIP https://www.uniprot.org/uniprot/Q6WCQ1 https://www.ncbi.nlm.nih.gov/omim/?term=612935 http://www.informatics.jax.org/searchtool/Search.do?query=MPRIP&submit=Quick%0D%6782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPRIP rs11551189 0.453075 0.4048 0.5233 1 0 0 exonic exonic exonic MPRIP MPRIP ENSG00000133030 synonymous SNV synonymous SNV unknown MPRIP:NM_201274:exon14:c.C1971G:p.A657A,MPRIP:NM_015134:exon14:c.C1971G:p.A657A, MPRIP:uc002gqu.2:exon14:c.C1971G:p.A657A,MPRIP:uc002gqv.2:exon14:c.C1971G:p.A657A,MPRIP:uc002gqw.2:exon8:c.C1236G:p.A412A, UNKNOWN Het;C>G 2628;93|114 Het;C>G 1935;130|94 Hom;C>G 5698;0|203 N N - 17 17075318 17075318 A G snp ncRNA_intronic AC055811.1 rs2292530 0.445288 0 0 1 0 0 intronic intronic ncRNA_intronic MPRIP MPRIP ENSG00000263624 Na Na Na Na Na Na Het;A>G 148;7|6 Ref Hom;A>G 217;0|6 N N - 17 17115566 17115566 A G snp UTR3 *1403T>C FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs7218795 0.713059 0 0 1 0 0 UTR3 UTR3 UTR3 FLCN(NM_144997:c.*1403T>C) FLCN(uc002gra.4:c.*1403T>C) ENSG00000154803(ENST00000285071:c.*1403T>C) Na Na Na Na Na Na Het;A>G 195;9|9 Het;A>G 96;10|6 Hom;A>G 445;0|15 N N - 17 17116412 17116412 A G snp UTR3 *557T>C FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs3803761 0.710663 0 0 1 0 0 UTR3 UTR3 UTR3 FLCN(NM_144997:c.*557T>C) FLCN(uc002gra.4:c.*557T>C) ENSG00000154803(ENST00000285071:c.*557T>C) Na Na Na Na Na Na Het;A>G 1376;66|60 Het;A>G 748;51|33 Hom;A>G 3000;0|101 N N - 17 17120668 17120668 G C snp intronic FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs4985705 0.531949 0 0 1 0 0 intronic intronic intronic FLCN FLCN ENSG00000133030,ENSG00000154803,ENSG00000264187 Na Na Na Na Na Na Het;G>C 114;5|4 Het;G>C 46;2|2 Hom;G>C 188;0|6 N N - 17 17135008 17135008 G C snp intronic FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs1736212 0.746206 0 0 1 0 0 intronic intronic intronic FLCN FLCN ENSG00000154803,ENSG00000264187 Na Na Na Na Na Na Het;G>C 314;25|13 Het;G>C 380;9|11 Hom;G>C 511;0|14 N N - 17 17135422 17135422 A G snp intronic FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs1736211 0.795727 0 0 1 0 0 intronic intronic intronic FLCN FLCN ENSG00000154803,ENSG00000264187 Na Na Na Na Na Na Het;A>G 69;6|3 Het;A>G 165;4|7 Hom;A>G 106;0|4 N N - 17 17140297 17140297 G A snp UTR5 -8846C>T FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs1708629 0.428315 0 0 1 0 0 UTR5 UTR5 UTR5 FLCN(NM_144997:c.-8846C>T,NM_144606:c.-8846C>T) FLCN(uc002gra.4:c.-8846C>T,uc002grb.4:c.-8846C>T,uc002grc.2:c.-8846C>T) ENSG00000154803(ENST00000285071:c.-8846C>T,ENST00000389169:c.-8846C>T,ENST00000417064:c.-9005C>T),ENSG00000264187(ENST00000427497:c.-8846C>T) Na Na Na Na Na Na Het;G>A 181;6|7 Het;G>A 202;5|10 Hom;G>A 517;0|17 N N - 17 17140485 17140485 C G snp UTR5 -9193G>C FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs1736209 0.743211 0 0 1 0 0 UTR5 UTR5 UTR5 FLCN(NM_144997:c.-9034G>C,NM_144606:c.-9034G>C) FLCN(uc002gra.4:c.-9034G>C,uc002grb.4:c.-9034G>C,uc002grc.2:c.-9034G>C) ENSG00000154803(ENST00000417064:c.-9193G>C),ENSG00000264187(ENST00000427497:c.-9034G>C) Na Na Na Na Na Na Het;C>G 665;23|32 Het;C>G 567;25|24 Hom;C>G 885;0|34 N N - 17 17146959 17146959 A G snp downstream ACTG1P24 rs1708627 0.582468 0 0 1 0 0 intergenic intergenic downstream FLCN(dist=6457),COPS3(dist=2979) FLCN(dist=6457),COPS3(dist=2979) ENSG00000226359,ENSG00000265109 Na Na Na Na Na Na Het;A>G 375;15|15 Het;A>G 276;9|11 Hom;A>G 371;0|13 N N - 17 17147065 17147065 C T snp downstream ACTG1P24 rs1736205 0.780551 0 0 1 0 0 intergenic intergenic downstream FLCN(dist=6563),COPS3(dist=2873) FLCN(dist=6563),COPS3(dist=2873) ENSG00000226359 Na Na Na Na Na Na Het;C>T 426;9|19 Het;C>T 186;6|10 Hom;C>T 244;0|10 N N - 17 17740164 17740165 GC G indel UTR5 -33_-34delinsC SREBF1 Srebf1 ENSG00000072310 sterol regulatory element binding transcription factor 1 chr17:17713713-17740325 This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016] Parkinson Disease; plasma HDL cholesterol (HDL-C) levels; hypercholesterolemia; atherosclerosis, coronary; lipids; obesity; Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes; diabetes, type 2; Alzheimer's Disease; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; Weight Gain; Hyperlipidemias; Femur Head Necrosis|; Coronary Disease; plasma HDL-C levels; dementia; metabolic syndrome; schizophrenia; diabetes, type 2; cholesterol, LDL; cholesterol, total; insulin; breast cancer ; atherosclerosis; Hypercholesterolemia Mice homozygous for a knock-out allele of transcript A die between E11.5 and E14.5. Mice homozygous for a knock-out allele of transcript C exhibit decreased circulating triglyceride levels. Mice homozygous for a gene trap allele exhibit decreased hepatictriglyceride storage. Transcriptional regulation of white adipocyte differentiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0003062;regulation of heart rate by chemical signal;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS|GO:0007568;aging;IEA|GO:0007623;circadian rhythm;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0008610;lipid biosynthetic process;IEA|GO:0009267;cellular response to starvation;ISS|GO:0009749;response to glucose;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019217;regulation of fatty acid metabolic process;IEA|GO:0030324;lung development;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031647;regulation of protein stability;IMP|GO:0032094;response to food;IEA|GO:0032526;response to retinoic acid;IEA|GO:0032570;response to progesterone;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033762;response to glucagon;IEA|GO:0033993;response to lipid;IEA|GO:0042493;response to drug;IEA|GO:0042789;mRNA transcription from RNA polymerase II promoter;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0045542;positive regulation of cholesterol biosynthetic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050796;regulation of insulin secretion;IEA|GO:0051591;response to cAMP;IEA|GO:0070542;response to fatty acid;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903214;regulation of protein targeting to mitochondrion;IMP GO:0000139;Golgi membrane;TAS|GO:0005634;nucleus;TAS|GO:0005635;nuclear envelope;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0032810;sterol response element binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SREBF1 https://www.uniprot.org/uniprot/P36956 https://www.ncbi.nlm.nih.gov/omim/?term=184756 http://www.informatics.jax.org/searchtool/Search.do?query=SREBF1&submit=Quick%0D%1430ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SREBF1 rs60282872 0.260383 0.5111 0.3663 1 0 0 UTR5 UTR5 UTR5 SREBF1(NM_004176:c.-33_-34delinsC,NM_001005291:c.-33_-34delinsC) SREBF1(uc002grt.2:c.-33_-34delinsC,uc002gru.2:c.-33_-34delinsC,uc010cpq.1:c.-33_-34delinsC) ENSG00000072310(ENST00000338854:c.-33_-34delinsC,ENST00000261646:c.-33_-34delinsC,ENST00000355815:c.-33_-34delinsC) Na Na Na Na Na Na Het;-C 171;7|7 Ref Hom;-C 89;0|4 N N - 17 18111344 18111344 A T snp intronic ALKBH5 Alkbh5 ENSG00000091542 alkB homolog 5, RNA demethylase chr17:18086392-18113268 Mice homozygous for a knock-out allele exhibit reduced male fertility associated with oligo- and teratozoopermia and male germ cell apoptosis. Reversal of alkylation damage by DNA dioxygenases GO:0001666;response to hypoxia;IDA|GO:0006307;DNA dealkylation involved in DNA repair;TAS|GO:0006397;mRNA processing;IMP|GO:0006406;mRNA export from nucleus;IMP|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0035553;oxidative single-stranded RNA demethylation;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;IDA|GO:0035515;oxidative RNA demethylase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALKBH5 https://www.uniprot.org/uniprot/Q6P6C2 https://www.ncbi.nlm.nih.gov/omim/?term=613303 http://www.informatics.jax.org/searchtool/Search.do?query=ALKBH5&submit=Quick%0D%2155ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALKBH5 rs9913262 0.278554 0 0 1 0 0 intronic intronic intronic ALKBH5 ALKBH5 ENSG00000091542 Na Na Na Na Na Na Het;A>T 143;3|5 Ref Hom;A>T 152;0|4 N N - 17 18541775 18541775 A G snp intronic TBC1D28 ENSG00000189375 TBC1 domain family member 28 chr17:18538319-18565263 GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IBA|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D28 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D28&submit=Quick%0D%16234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D28 rs9902086 0.717652 0.5815 0.6023 1 0 0 intronic intronic intronic TBC1D28 TBC1D28 ENSG00000189375 Na Na Na Na Na Na Het;A>G 1773;78|69 Het;A>G 1528;90|65 Hom;A>G 2637;0|86 N N - 17 18647625 18647625 T A snp nonsynonymous SNV T68A I23N aliphatic,hydrophobic,neutral polar,hydrophilic,neutral FBXW10 Fbxw10 ENSG00000171931 F-box and WD repeat domain containing 10 chr17:18647326-18682662 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/FBXW10 https://www.ncbi.nlm.nih.gov/omim/?term=611679 http://www.informatics.jax.org/searchtool/Search.do?query=FBXW10&submit=Quick%0D%13045ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW10 rs11544711 0.467851 0.5944 0.5745 0.33 4 12 exonic exonic exonic FBXW10 FBXW10 ENSG00000171931 nonsynonymous SNV nonsynonymous SNV unknown FBXW10:NM_001267585:exon1:c.T68A:p.I23N,FBXW10:NM_001267586:exon1:c.T68A:p.I23N, FBXW10:uc002guk.3:exon1:c.T68A:p.I23N,FBXW10:uc010cqh.2:exon1:c.T68A:p.I23N,FBXW10:uc002gul.3:exon1:c.T68A:p.I23N, UNKNOWN Het;T>A 1910;79|86 Het;T>A 1385;70|62 Hom;T>A 4369;0|158 N N - 17 18671733 18671733 C A snp intronic FBXW10 Fbxw10 ENSG00000171931 F-box and WD repeat domain containing 10 chr17:18647326-18682662 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/FBXW10 https://www.ncbi.nlm.nih.gov/omim/?term=611679 http://www.informatics.jax.org/searchtool/Search.do?query=FBXW10&submit=Quick%0D%13045ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW10 rs10775382 0.804912 0 0 1 0 0 intronic intronic intronic FBXW10 FBXW10 ENSG00000171931 Na Na Na Na Na Na Het;C>A 581;20|27 Het;C>A 397;10|16 Hom;C>A 1170;0|39 N N - 17 18694277 18694277 G A snp nonsynonymous SNV G164A G55E aliphatic,neutral polar,hydrophilic,charged(-) TVP23B Tvp23b ENSG00000171928 trans-golgi network vesicle protein 23 homolog B chr17:18684308-18710027 Pancreatic Neoplasms GO:0009306;protein secretion;IBA|GO:0016192;vesicle-mediated transport;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA http://www.genecards.org/index.php?path=/Search/keyword/TVP23B http://www.informatics.jax.org/searchtool/Search.do?query=TVP23B&submit=Quick%0D%13044ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TVP23B rs61075345 0.843051 0.8163 0.8392 0.15 2 13 exonic exonic exonic TVP23B TVP23B ENSG00000171928 nonsynonymous SNV nonsynonymous SNV unknown TVP23B:NM_016078:exon3:c.G164A:p.G55E, TVP23B:uc002gum.2:exon3:c.G164A:p.G55E, UNKNOWN Het;G>A 1914;124|89 Het;G>A 2223;129|104 Hom;G>A 6149;0|225 N N - 17 18702220 18702220 T C snp synonymous SNV T426C A142A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TVP23B Tvp23b ENSG00000171928 trans-golgi network vesicle protein 23 homolog B chr17:18684308-18710027 Pancreatic Neoplasms GO:0009306;protein secretion;IBA|GO:0016192;vesicle-mediated transport;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA http://www.genecards.org/index.php?path=/Search/keyword/TVP23B http://www.informatics.jax.org/searchtool/Search.do?query=TVP23B&submit=Quick%0D%13044ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TVP23B rs8080471 0.677516 0.6745 0.6925 1 0 0 exonic exonic exonic TVP23B TVP23B ENSG00000171928 synonymous SNV synonymous SNV unknown TVP23B:NM_016078:exon5:c.T426C:p.A142A, TVP23B:uc002gum.2:exon5:c.T426C:p.A142A, UNKNOWN Het;T>C 1864;112|90 Het;T>C 1699;114|80 Hom;T>C 6005;0|225 N N - 17 18761396 18761396 C T snp UTR5 -7751C>T PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs59633160 0.46246 0 0 1 0 0 UTR5 UTR5 intronic PRPSAP2(NM_002767:c.-7751C>T,NM_001243941:c.-19634C>T) PRPSAP2(uc002gup.2:c.-7751C>T,uc010vyj.2:c.-19634C>T) ENSG00000141127 Na Na Na Na Na Na Het;C>T 50;2|2 Het;C>T 366;2|11 Hom;C>T 107;0|3 N N - 17 18761411 18761411 T TCCCGCCCCCGCCCCGCC indel UTR5 -7736T>TCCCGCCCCCGCCCCGCC PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs758419160 0 0 0 1 0 0 UTR5 UTR5 UTR5 PRPSAP2(NM_002767:c.-7736T>TCCCGCCCCCGCCCCGCC,NM_001243941:c.-19619T>TCCCGCCCCCGCCCCGCC) PRPSAP2(uc002gup.2:c.-7736T>TCCCGCCCCCGCCCCGCC,uc010vyj.2:c.-19619T>TCCCGCCCCCGCCCCGCC) ENSG00000141127(ENST00000571907:c.-7736T>TCCCGCCCCCGCCCCGCC) Na Na Na Na Na Na Het;+CCCGCCCCCGCCCCGCC 41;2|2 Het;+CCCGCCCCCGCCCCGCC 395;2|11 Hom;+CCCGCCCCCGCCCCGCC 98;0|3 N N - 17 18761419 18761419 T C snp UTR5 -7728T>C PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs9905495 0.816494 0 0 1 0 0 UTR5 UTR5 UTR5 PRPSAP2(NM_002767:c.-7728T>C,NM_001243941:c.-19611T>C) PRPSAP2(uc002gup.2:c.-7728T>C,uc010vyj.2:c.-19611T>C) ENSG00000141127(ENST00000571907:c.-7728T>C,ENST00000419284:c.-7728T>C) Na Na Na Na Na Na Het;T>C 50;2|2 Het;T>C 340;2|9 Hom;T>C 107;0|3 N N - 17 18769349 18769349 T C snp intronic PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs2386404 0.470647 0 0 1 0 0 intronic intronic intronic PRPSAP2 PRPSAP2 ENSG00000141127 Na Na Na Na Na Na Het;T>C 585;14|19 Het;T>C 213;10|7 Hom;T>C 734;0|23 N N - 17 18770733 18770733 G A snp intronic PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs2305064 0.46845 0 0 1 0 0 intronic intronic intronic PRPSAP2 PRPSAP2 ENSG00000141127 Na Na Na Na Na Na Het;G>A 462;17|19 Het;G>A 567;5|21 Hom;G>A 953;0|34 N N - 17 18775900 18775900 A G snp synonymous SNV A177G T59T polar,hydrophilic,neutral polar,hydrophilic,neutral PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs4393623 0.46246 0.5582 0.4998 0.25 1 4 exonic exonic exonic PRPSAP2 PRPSAP2 ENSG00000141127 synonymous SNV synonymous SNV unknown PRPSAP2:NM_001243940:exon4:c.A177G:p.T59T,PRPSAP2:NM_002767:exon5:c.A177G:p.T59T, PRPSAP2:uc010vyk.2:exon4:c.A177G:p.T59T,PRPSAP2:uc002gup.2:exon5:c.A177G:p.T59T, UNKNOWN Het;A>G 743;54|32 Het;A>G 474;47|30 Hom;A>G 2359;0|88 N N - 17 18776020 18776020 A T snp intronic PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs7503678 0.46266 0.5613 0 1 0 0 intronic intronic intronic PRPSAP2 PRPSAP2 ENSG00000141127 Na Na Na Na Na Na Het;A>T 669;38|31 Het;A>T 371;18|17 Hom;A>T 945;0|34 N N - 17 18793061 18793061 C T snp intronic PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs3803835 0.46246 0 0 1 0 0 intronic intronic intronic PRPSAP2 PRPSAP2 ENSG00000141127 Na Na Na Na Na Na Het;C>T 178;15|8 Het;C>T 392;13|19 Hom;C>T 738;0|22 N N - 17 18793225 18793225 A G snp intronic PRPSAP2 Prpsap2 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 chr17:18743398-18834581 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] GO:0006139;nucleobase-containing compound metabolic process;TAS|GO:0009116;nucleoside metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0060348;bone development;IEA GO:0002189;ribose phosphate diphosphokinase complex;IEA|GO:0043234;protein complex;IEA GO:0000287;magnesium ion binding;IEA|GO:0004749;ribose phosphate diphosphokinase activity;IEA|GO:0004857;enzyme inhibitor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPSAP2 https://www.uniprot.org/uniprot/O60256 https://www.ncbi.nlm.nih.gov/omim/?term=603762 http://www.informatics.jax.org/searchtool/Search.do?query=PRPSAP2&submit=Quick%0D%8124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPSAP2 rs3826380 0.46246 0.5596 0.5005 1 0 0 intronic intronic intronic PRPSAP2 PRPSAP2 ENSG00000141127 Na Na Na Na Na Na Het;A>G 368;37|20 Het;A>G 395;33|24 Hom;A>G 1877;0|66 N N - 17 20897584 20897584 T C snp ncRNA_exonic CCDC144NL-AS1 rs4985953 0.714657 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC339260(dist=11914),USP22(dist=5322) BC043529(dist=11914),USP22(dist=5322) ENSG00000233098 Na Na Na Na Na Na Het;T>C 44;5|4 Het;T>C 65;6|4 Hom;T>C 419;0|17 N N - 17 20979206 20979206 C T snp ncRNA_exonic LINC01563 rs872789 0.288938 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01563 HP08942 ENSG00000236819 Na Na Na Na Na Na Het;C>T 2740;121|123 Het;C>T 1761;130|92 Hom;C>T 6097;2|226 N N - 17 21204266 21204266 T C snp synonymous SNV T273C C91C polar,hydrophobic,neutral polar,hydrophobic,neutral MAP2K3 Map2k3 ENSG00000034152 mitogen-activated protein kinase kinase 3 chr17:21187984-21218552 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid|Rheumatoid Arthritis Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. Uptake and function of anthrax toxins GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3 https://www.uniprot.org/uniprot/P46734 https://www.ncbi.nlm.nih.gov/omim/?term=602315 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3 rs2230435 0.306909 0.5242 0.5397 1 0 0 exonic exonic exonic MAP2K3 MAP2K3 ENSG00000034152 synonymous SNV synonymous SNV unknown MAP2K3:NM_002756:exon5:c.T273C:p.C91C,MAP2K3:NM_145109:exon5:c.T360C:p.C120C, MAP2K3:uc002gyt.3:exon6:c.T273C:p.C91C,MAP2K3:uc002gys.3:exon5:c.T360C:p.C120C,MAP2K3:uc021tsq.1:exon5:c.T273C:p.C91C,MAP2K3:uc021tsr.1:exon6:c.T273C:p.C91C, UNKNOWN Het;T>C 7944;104|235 Het;T>C 6482;81|188 Hom;T>C 9947;0|290 N N - 17 21206556 21206556 C T snp intronic MAP2K3 Map2k3 ENSG00000034152 mitogen-activated protein kinase kinase 3 chr17:21187984-21218552 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid|Rheumatoid Arthritis Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. Uptake and function of anthrax toxins GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3 https://www.uniprot.org/uniprot/P46734 https://www.ncbi.nlm.nih.gov/omim/?term=602315 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3 rs736103 0.210663 0.5196 0.5249 1 0 0 intronic intronic intronic MAP2K3 MAP2K3 ENSG00000034152 Na Na Na Na Na Na Het;C>T 1035;19|45 Het;C>T 1243;14|53 Hom;C>T 1141;0|41 N N - 17 21243927 21243927 T C snp intergenic MAP2K3 Map2k3 ENSG00000034152 mitogen-activated protein kinase kinase 3 chr17:21187984-21218552 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid|Rheumatoid Arthritis Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. Uptake and function of anthrax toxins GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3 https://www.uniprot.org/uniprot/P46734 https://www.ncbi.nlm.nih.gov/omim/?term=602315 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3 rs77959389 0.00279553 0 0 1 0 0 intergenic intergenic intergenic MAP2K3(dist=25376),KCNJ12(dist=35772) MAP2K3(dist=25376),KCNJ12(dist=35772) ENSG00000034152(dist=25375),ENSG00000184185(dist=35582) Na Na Na Na Na Na Het;T>C 95;1|3 Ref Hom;T>C 197;0|5 N N - 17 21243929 21243929 T C snp intergenic MAP2K3 Map2k3 ENSG00000034152 mitogen-activated protein kinase kinase 3 chr17:21187984-21218552 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid|Rheumatoid Arthritis Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. Uptake and function of anthrax toxins GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0035897;proteolysis in other organism;TAS|GO:0042035;regulation of cytokine biosynthetic process;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060048;cardiac muscle contraction;IEA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP2K3 https://www.uniprot.org/uniprot/P46734 https://www.ncbi.nlm.nih.gov/omim/?term=602315 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K3&submit=Quick%0D%760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K3 rs77752474 0.00259585 0 0 1 0 0 intergenic intergenic intergenic MAP2K3(dist=25378),KCNJ12(dist=35770) MAP2K3(dist=25378),KCNJ12(dist=35770) ENSG00000034152(dist=25377),ENSG00000184185(dist=35580) Na Na Na Na Na Na Het;T>C 92;1|3 Ref Hom;T>C 197;0|4 N N - 17 21303564 21303564 G GC indel intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs35820845 0.452676 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;+C 128;1|4 Ref Hom;+C 188;0|5 N N - 17 21303571 21303571 C G snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs75584412 0 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;C>G 69;3|3 Ref Hom;C>G 197;0|5 N N - 17 21303580 21303580 T TC indel intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs75751981 0.498602 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;+C 170;1|5 Ref Hom;+C 228;0|6 N N - 17 21303642 21303642 T C snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs78615108 0 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;T>C 80;6|3 Het;T>C 92;2|3 Hom;T>C 152;0|4 N N - 17 21303649 21303649 T C snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs79080618 0 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;T>C 80;6|3 Het;T>C 92;2|3 Hom;T>C 152;0|4 N N - 17 21303656 21303656 T C snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs76279969 0 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;T>C 80;6|3 Het;T>C 134;2|4 Hom;T>C 242;0|4 N N - 17 21303666 21303666 C A snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs75607765 0 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;C>A 74;8|3 Het;C>A 134;2|4 Hom;C>A 242;0|6 N N - 17 21305362 21305362 G A snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs1657660 0 0 0 1 0 0 intronic intronic intronic KCNJ12 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;G>A 140;7|5 Ref Hom;G>A 148;0|6 N N - 17 21313508 21313508 T C snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs2364025 0 0 0 1 0 0 intronic intronic intronic KCNJ12,KCNJ18 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;T>C 212;4|6 Het;T>C 135;2|5 Hom;T>C 197;0|5 N N - 17 21313513 21313513 T A snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs2364024 0 0 0 1 0 0 intronic intronic intronic KCNJ12,KCNJ18 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;T>A 212;4|6 Het;T>A 92;2|3 Hom;T>A 197;0|5 N N - 17 21313526 21313526 C G snp intronic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs2364023 0 0 0 1 0 0 intronic intronic intronic KCNJ12,KCNJ18 KCNJ12 ENSG00000184185 Na Na Na Na Na Na Het;C>G 206;6|4 Het;C>G 49;2|3 Hom;C>G 106;0|4 N N - 17 21326162 21326162 A AG indel intergenic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs11403610 0.276957 0 0 1 0 0 intergenic intergenic intergenic KCNJ12(dist=2983),C17orf51(dist=105409) KCNJ12(dist=2983),C17orf51(dist=105409) ENSG00000184185(dist=2983),ENSG00000265881(dist=21983) Na Na Na Na Na Na Het;+G 178;1|6 Ref Hom;+G 96;0|3 N N - 17 21326191 21326191 C T snp intergenic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs72842144 0 0 0 1 0 0 intergenic intergenic intergenic KCNJ12(dist=3012),C17orf51(dist=105380) KCNJ12(dist=3012),C17orf51(dist=105380) ENSG00000184185(dist=3012),ENSG00000265881(dist=21954) Na Na Na Na Na Na Het;C>T 263;1|7 Ref Hom;C>T 197;0|5 N N - 17 21326193 21326193 A G snp intergenic KCNJ12 Kcnj12 ENSG00000184185 potassium voltage-gated channel subfamily J member 12 chr17:21279509-21323179 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Body Height Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0061337;cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IDA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNJ12 https://www.ncbi.nlm.nih.gov/omim/?term=602323 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ12&submit=Quick%0D%15150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ12 rs72842146 0 0 0 1 0 0 intergenic intergenic intergenic KCNJ12(dist=3014),C17orf51(dist=105378) KCNJ12(dist=3014),C17orf51(dist=105378) ENSG00000184185(dist=3014),ENSG00000265881(dist=21952) Na Na Na Na Na Na Het;A>G 285;1|7 Ref Hom;A>G 197;0|5 N N - 17 21348289 21348289 C T snp ncRNA_exonic PDLIM1P2 rs4985801 0.263179 0 0 1 0 0 intergenic intergenic ncRNA_exonic KCNJ12(dist=25110),C17orf51(dist=83282) KCNJ12(dist=25110),C17orf51(dist=83282) ENSG00000265881 Na Na Na Na Na Na Het;C>T 136;1|7 Het;C>T 71;2|4 Hom;C>T 63;0|3 N N - 17 21561194 21561194 C T snp ncRNA_intronic AC233702.5 rs9905318 0.376797 0 0 1 0 0 intergenic intergenic ncRNA_intronic C17orf51(dist=106253),FAM27L(dist=264176) NONE(dist=NONE),UBBP4(dist=168679) ENSG00000264617 Na Na Na Na Na Na Het;C>T 8039;32|202 Het;C>T 6158;21|151 Hom;C>T 5648;8|142 N N - 17 21561709 21561709 A G snp ncRNA_intronic AC233702.5 rs9907358 0.385783 0 0 1 0 0 intergenic intergenic ncRNA_intronic C17orf51(dist=106768),FAM27L(dist=263661) NONE(dist=NONE),UBBP4(dist=168164) ENSG00000264617 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 71;0|4 N N - 17 21899658 21899658 T C snp intergenic FAM27L rs12325740 0.54393 0 0 1 0 0 intergenic intergenic intergenic FAM27L(dist=73159),FLJ36000(dist=4404) FAM27L(dist=73159),FLJ36000(dist=4404) ENSG00000266806(dist=40642),ENSG00000266172(dist=4466) Na Na Na Na Na Na Het;T>C 70;8|5 Het;T>C 66;7|4 Hom;T>C 763;0|27 N N - 17 21904024 21904024 A G snp downstream ENSG00000266172 rs637961 0.738419 0 0 1 0 0 upstream upstream downstream FLJ36000 FLJ36000 ENSG00000266172 Na Na Na Na Na Na Het;A>G 649;2|23 Het;A>G 740;2|23 Hom;A>G 471;0|16 N N - 17 21906514 21906514 A G snp ncRNA_exonic ENSG00000264939 rs6565390 0.772364 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic FLJ36000 FLJ36000 ENSG00000264939,ENSG00000266795 Na Na Na Na Na Na Het;A>G 1062;9|30 Het;A>G 360;4|13 Hom;A>G 904;0|24 N N - 17 21910379 21910379 A C snp ncRNA_exonic FLJ36000 rs2342216 0.543131 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FLJ36000 FLJ36000 ENSG00000266795 Na Na Na Na Na Na Het;A>C 906;52|42 Het;A>C 695;48|36 Hom;A>C 1762;0|64 N N - 17 21963242 21963242 A G snp intergenic FLJ36000 rs12940712 0.505391 0 0 1 0 0 intergenic intergenic intergenic FLJ36000(dist=50172),MTRNR2L1(dist=59195) FLJ36000(dist=50172),TRNA(dist=58123) ENSG00000266885(dist=24880),ENSG00000266529(dist=55701) Na Na Na Na Na Na Het;A>G 37;3|2 Het;A>G 79;2|3 Hom;A>G 227;0|8 N N - 17 22016133 22016133 G C snp intergenic FLJ36000 rs2037354 0.534345 0 0 1 0 0 intergenic intergenic intergenic FLJ36000(dist=103063),MTRNR2L1(dist=6304) FLJ36000(dist=103063),TRNA(dist=5232) ENSG00000266885(dist=77771),ENSG00000266529(dist=2810) Na Na Na Na Na Na Het;G>C 46;2|3 Ref Hom;G>C 110;0|5 N N - 17 22023591 22023591 T C snp UTR3 *129T>C MTRNR2L1 ENSG00000256618 MT-RNR2-like 1 chr17:22022437-22023991 GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTRNR2L1 https://www.ncbi.nlm.nih.gov/omim/?term=616985 http://www.informatics.jax.org/searchtool/Search.do?query=MTRNR2L1&submit=Quick%0D%20198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTRNR2L1 rs62051411 0.465655 0 0 1 0 0 UTR3 UTR3 UTR3 MTRNR2L1(NM_001190452:c.*129T>C) MTRNR2L1(uc002gzb.2:c.*129T>C) ENSG00000256618(ENST00000540040:c.*129T>C) Na Na Na Na Na Na Het;T>C 122;8|8 Het;T>C 438;9|20 Hom;T>C 526;0|18 N N - 17 22214959 22214959 G A snp intergenic MTRNR2L1 ENSG00000256618 MT-RNR2-like 1 chr17:22022437-22023991 GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTRNR2L1 https://www.ncbi.nlm.nih.gov/omim/?term=616985 http://www.informatics.jax.org/searchtool/Search.do?query=MTRNR2L1&submit=Quick%0D%20198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTRNR2L1 rs75312943 0.0676917 0 0 1 0 0 intergenic intergenic intergenic MTRNR2L1(dist=190968),NONE(dist=NONE) TRNA(dist=184171),NONE(dist=NONE) ENSG00000264970(dist=9947),NONE(dist=NONE) Na Na Na Na Na Na Het;G>A 114;5|6 Het;G>A 90;4|6 Hom;G>A 198;0|8 N N - 17 22261117 22261117 G T snp intergenic MTRNR2L1 ENSG00000256618 MT-RNR2-like 1 chr17:22022437-22023991 GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTRNR2L1 https://www.ncbi.nlm.nih.gov/omim/?term=616985 http://www.informatics.jax.org/searchtool/Search.do?query=MTRNR2L1&submit=Quick%0D%20198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTRNR2L1 rs145648665 0 0 0 1 0 0 intergenic intergenic intergenic MTRNR2L1(dist=237126),NONE(dist=NONE) TRNA(dist=230329),NONE(dist=NONE) ENSG00000264970(dist=56105),NONE(dist=NONE) Na Na Na Na Na Na Het;G>T 218;0|6 Het;G>T 890;2|20 Hom;G>T 872;0|20 N N - 17 22261129 22261129 A T snp intergenic MTRNR2L1 ENSG00000256618 MT-RNR2-like 1 chr17:22022437-22023991 GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTRNR2L1 https://www.ncbi.nlm.nih.gov/omim/?term=616985 http://www.informatics.jax.org/searchtool/Search.do?query=MTRNR2L1&submit=Quick%0D%20198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTRNR2L1 rs199711803 0.0127796 0 0 1 0 0 intergenic intergenic intergenic MTRNR2L1(dist=237138),NONE(dist=NONE) TRNA(dist=230341),NONE(dist=NONE) ENSG00000264970(dist=56117),NONE(dist=NONE) Na Na Na Na Na Na Het;A>T 247;2|7 Het;A>T 1116;2|28 Hom;A>T 1031;0|24 N N - 17 25296418 25296418 T A snp intergenic NONE rs79306613 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR4522(dist=324518) NONE(dist=NONE),MIR4522(dist=324518) NONE(dist=NONE),ENSG00000263433(dist=12302) Na Na Na Na Na Na Het;T>A 539;7|14 Ref Hom;T>A 152;0|4 N N - 17 25296420 25296420 G A snp intergenic NONE rs75005485 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR4522(dist=324516) NONE(dist=NONE),MIR4522(dist=324516) NONE(dist=NONE),ENSG00000263433(dist=12300) Na Na Na Na Na Na Het;G>A 539;7|14 Ref Hom;G>A 152;0|4 N N - 17 25296435 25296435 G T snp intergenic NONE rs78018566 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR4522(dist=324501) NONE(dist=NONE),MIR4522(dist=324501) NONE(dist=NONE),ENSG00000263433(dist=12285) Na Na Na Na Na Na Het;G>T 226;12|9 Ref Hom;G>T 152;0|4 N N - 17 25299470 25299470 C A snp intergenic NONE rs9748013 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR4522(dist=321466) NONE(dist=NONE),MIR4522(dist=321466) NONE(dist=NONE),ENSG00000263433(dist=9250) Na Na Na Na Na Na Het;C>A 391;6|14 Het;C>A 409;3|11 Hom;C>A 576;1|17 N N - 17 25970642 25970642 A T snp nonsynonymous SNV A536T Q179L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral LGALS9 Lgals9 ENSG00000168961 galectin 9 chr17:25956824-25976586 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit increased susceptibility to collagen-induced arthritis, increased T-helper 1 cells and decreased regulatory T cells. Interleukin-2 family signaling GO:0002376;immune system process;IEA|GO:0002519;natural killer cell tolerance induction;IMP|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IDA|GO:0007565;female pregnancy;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0032496;response to lipopolysaccharide;IMP|GO:0032682;negative regulation of chemokine production;IMP|GO:0032689;negative regulation of interferon-gamma production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0032753;positive regulation of interleukin-4 production;IDA|GO:0032834;positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;IDA|GO:0038066;p38MAPK cascade;IDA|GO:0042346;positive regulation of NF-kappaB import into nucleus;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043305;negative regulation of mast cell degranulation;IMP|GO:0045953;negative regulation of natural killer cell mediated cytotoxicity;IDA|GO:0046007;negative regulation of activated T cell proliferation;IMP|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0060135;maternal process involved in female pregnancy;IDA|GO:0070241;positive regulation of activated T cell autonomous cell death;IDA|GO:0070371;ERK1 and ERK2 cascade;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0070555;response to interleukin-1;IDA|GO:0071346;cellular response to interferon-gamma;IDA|GO:0071636;positive regulation of transforming growth factor beta production;IDA|GO:0071639;positive regulation of monocyte chemotactic protein-1 production;IMP|GO:0098586;cellular response to virus;IMP|GO:1902715;positive regulation of interferon-gamma secretion;IDA|GO:1904469;positive regulation of tumor necrosis factor secretion;IDA|GO:2000484;positive regulation of interleukin-8 secretion;IMP|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP|GO:2000562;negative regulation of CD4-positive, alpha-beta T cell proliferation;IDA|GO:2000563;positive regulation of CD4-positive, alpha-beta T cell proliferation;IDA|GO:2000667;positive regulation of interleukin-13 secretion;IDA|GO:2000670;positive regulation of dendritic cell apoptotic process;IDA|GO:2000778;positive regulation of interleukin-6 secretion;IMP|GO:2001181;positive regulation of interleukin-10 secretion;IDA|GO:2001184;positive regulation of interleukin-12 secretion;IMP|GO:2001190;positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;IDA|GO:2001200;positive regulation of dendritic cell differentiation;IMP|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0005534;galactose binding;TAS|GO:0019899;enzyme binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0048030;disaccharide binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/LGALS9 https://www.ncbi.nlm.nih.gov/omim/?term=601879 http://www.informatics.jax.org/searchtool/Search.do?query=LGALS9&submit=Quick%0D%12389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS9 rs361498 0.0617013 0.1491 0.1659 0.08 1 13 exonic exonic exonic LGALS9 LGALS9 ENSG00000168961 nonsynonymous SNV nonsynonymous SNV unknown LGALS9:NM_009587:exon5:c.A536T:p.Q179L, LGALS9:uc002gzp.3:exon5:c.A536T:p.Q179L,LGALS9:uc010waa.2:exon5:c.A365T:p.Q122L, UNKNOWN Het;A>T 1885;110|88 Het;A>T 1710;120|90 Hom;A>T 5865;6|231 N N - 17 2678110 2678114 CTTTT C indel intergenic MIR1253 Na 0 0 0 1 0 0 intergenic intergenic intergenic MIR1253(dist=26634),RAP1GAP2(dist=21618) MIR1253(dist=26634),RAP1GAP2(dist=21618) ENSG00000265566(dist=20680),ENSG00000132359(dist=2236) Na Na Na Na Na Na Het;-TTTT 167;2|5 Het;-TTTT 83;2|3 Hom;-TTTT 98;0|3 N N - 17 28029938 28029938 T C snp ncRNA_intronic ABHD15-AS1 rs3102560 0.615815 0.5546 0.5632 1 0 0 intronic intronic ncRNA_intronic SSH2 SSH2 ENSG00000264031 Na Na Na Na Na Na Het;T>C 616;46|28 Het;T>C 919;30|38 Hom;T>C 2068;0|77 N N - 17 28030267 28030267 G C snp ncRNA_intronic ABHD15-AS1 rs3115087 0.469249 0 0 1 0 0 intronic intronic ncRNA_intronic SSH2 SSH2 ENSG00000264031 Na Na Na Na Na Na Het;G>C 120;2|4 Ref Hom;G>C 138;0|4 N N - 17 28148117 28148117 C T snp intronic SSH2 Ssh2 ENSG00000141298 slingshot protein phosphatase 2 chr17:27952956-28257294 This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Colorectal Neoplasms|Microsatellite Instability|Stomach Neoplasms GO:0006470;protein dephosphorylation;IMP|GO:0008064;regulation of actin polymerization or depolymerization;IBA|GO:0010591;regulation of lamellipodium assembly;IBA|GO:0016311;dephosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IMP|GO:0030335;positive regulation of cell migration;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050770;regulation of axonogenesis;IBA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA GO:0003779;actin binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SSH2 https://www.uniprot.org/uniprot/Q76I76 https://www.ncbi.nlm.nih.gov/omim/?term=606779 http://www.informatics.jax.org/searchtool/Search.do?query=SSH2&submit=Quick%0D%8139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSH2 rs4474741 0.444489 0 0 1 0 0 intronic intronic intronic SSH2 SSH2 ENSG00000141298 Na Na Na Na Na Na Het;C>T 563;28|25 Het;C>T 448;17|21 Hom;C>T 1201;0|40 N N - 17 29119761 29119761 C CAA indel ncRNA_exonic AC127024.5 rs10645005 0.429113 0 0 1 0 0 intronic intronic ncRNA_exonic CRLF3 CRLF3 ENSG00000266490 Na Na Na Na Na Na Het;+AA 1868;96|57 Het;+AA 2074;59|60 Hom;+AA 4752;2|120 N N - 17 29226630 29226630 T A snp UTR3 *765A>T TEFM Tefm ENSG00000172171 transcription elongation factor, mitochondrial chr17:29224354-29233838 Craniofacial Abnormalities|Growth Disorders|Learning Disorders|Syndrome Mice homozygous for a knock-out allele exhibit reduced embryo size, absent heart tube and embryonic lethality at E8.5. GO:0006119;oxidative phosphorylation;IMP|GO:0006259;DNA metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IMP GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0042645;mitochondrial nucleoid;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030337;DNA polymerase processivity factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TEFM https://www.ncbi.nlm.nih.gov/omim/?term=616422 http://www.informatics.jax.org/searchtool/Search.do?query=TEFM&submit=Quick%0D%13096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEFM rs28539246 0.479433 0.4279 0.4035 1 0 0 intronic UTR3 UTR3 TEFM TEFM(uc002hfw.2:c.*765A>T) ENSG00000172171(ENST00000580840:c.*765A>T) Na Na Na Na Na Na Het;T>A 625;17|28 Het;T>A 228;29|15 Hom;T>A 1396;2|57 N N - 17 29226652 29226652 A G snp UTR3 *743T>C TEFM Tefm ENSG00000172171 transcription elongation factor, mitochondrial chr17:29224354-29233838 Craniofacial Abnormalities|Growth Disorders|Learning Disorders|Syndrome Mice homozygous for a knock-out allele exhibit reduced embryo size, absent heart tube and embryonic lethality at E8.5. GO:0006119;oxidative phosphorylation;IMP|GO:0006259;DNA metabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IMP GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0042645;mitochondrial nucleoid;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030337;DNA polymerase processivity factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TEFM https://www.ncbi.nlm.nih.gov/omim/?term=616422 http://www.informatics.jax.org/searchtool/Search.do?query=TEFM&submit=Quick%0D%13096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEFM rs9897628 0.479433 0.4757 0.4097 1 0 0 intronic UTR3 UTR3 TEFM TEFM(uc002hfw.2:c.*743T>C) ENSG00000172171(ENST00000580840:c.*743T>C) Na Na Na Na Na Na Het;A>G 726;11|23 Het;A>G 122;16|6 Hom;A>G 1150;0|37 N N - 17 29788121 29788121 T C snp intronic RAB11FIP4 Rab11fip4 ENSG00000131242 RAB11 family interacting protein 4 chr17:29718642-29865236 Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP4 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Apr 2008] Hypertension; Cholesterol, HDL; Waist Circumference; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Creatinine; Glomerular Filtration Rate; Fibrinogen GO:0000910;cytokinesis;IMP|GO:0003407;neural retina development;IEA|GO:0006810;transport;IEA|GO:0016032;viral process;IEA|GO:1903452;positive regulation of G1 to G0 transition;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP4 https://www.uniprot.org/uniprot/Q86YS3 https://www.ncbi.nlm.nih.gov/omim/?term=611999 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP4&submit=Quick%0D%6519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP4 rs2525581 0.877396 0 0 1 0 0 intronic intronic intronic RAB11FIP4 RAB11FIP4 ENSG00000131242 Na Na Na Na Na Na Het;T>C 319;27|16 Het;T>C 563;27|16 Hom;T>C 1280;0|40 N N - 17 29844658 29844658 C G snp intronic RAB11FIP4 Rab11fip4 ENSG00000131242 RAB11 family interacting protein 4 chr17:29718642-29865236 Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP4 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Apr 2008] Hypertension; Cholesterol, HDL; Waist Circumference; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Creatinine; Glomerular Filtration Rate; Fibrinogen GO:0000910;cytokinesis;IMP|GO:0003407;neural retina development;IEA|GO:0006810;transport;IEA|GO:0016032;viral process;IEA|GO:1903452;positive regulation of G1 to G0 transition;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP4 https://www.uniprot.org/uniprot/Q86YS3 https://www.ncbi.nlm.nih.gov/omim/?term=611999 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP4&submit=Quick%0D%6519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP4 rs3744619 0.513179 0.3549 0.4946 1 0 0 intronic intronic intronic RAB11FIP4 RAB11FIP4 ENSG00000131242 Na Na Na Na Na Na Het;C>G 613;41|29 Ref Hom;C>G 1553;0|53 N N - 17 29844909 29844909 A G snp intronic RAB11FIP4 Rab11fip4 ENSG00000131242 RAB11 family interacting protein 4 chr17:29718642-29865236 Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP4 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Apr 2008] Hypertension; Cholesterol, HDL; Waist Circumference; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Creatinine; Glomerular Filtration Rate; Fibrinogen GO:0000910;cytokinesis;IMP|GO:0003407;neural retina development;IEA|GO:0006810;transport;IEA|GO:0016032;viral process;IEA|GO:1903452;positive regulation of G1 to G0 transition;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030306;ADP-ribosylation factor binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP4 https://www.uniprot.org/uniprot/Q86YS3 https://www.ncbi.nlm.nih.gov/omim/?term=611999 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP4&submit=Quick%0D%6519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP4 rs3744618 0.455272 0.2577 0.4161 1 0 0 intronic intronic intronic RAB11FIP4 RAB11FIP4 ENSG00000131242 Na Na Na Na Na Na Het;A>G 975;49|45 Ref Hom;A>G 2041;0|73 N N - 17 30593336 30593336 C T snp intronic RHBDL3 Rhbdl3 ENSG00000141314 rhomboid like 3 chr17:30593195-30651680 GO:0006508;proteolysis;IEA|GO:0016485;protein processing;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RHBDL3 https://www.uniprot.org/uniprot/P58872 http://www.informatics.jax.org/searchtool/Search.do?query=RHBDL3&submit=Quick%0D%8140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBDL3 rs9889253 0.334465 0 0.4560 1 0 0 intronic intronic intronic RHBDL3 RHBDL3 ENSG00000141314 Na Na Na Na Na Na Het;C>T 147;9|10 Ref Hom;C>T 205;0|9 N N - 17 30632274 30632274 G A snp intronic RHBDL3 Rhbdl3 ENSG00000141314 rhomboid like 3 chr17:30593195-30651680 GO:0006508;proteolysis;IEA|GO:0016485;protein processing;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RHBDL3 https://www.uniprot.org/uniprot/P58872 http://www.informatics.jax.org/searchtool/Search.do?query=RHBDL3&submit=Quick%0D%8140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBDL3 rs16967266 0.412939 0 0 1 0 0 intronic intronic intronic RHBDL3 RHBDL3 ENSG00000141314 Na Na Na Na Na Na Het;G>A 744;18|29 Ref Hom;G>A 1492;0|52 N N - 17 30687522 30687522 G C snp ncRNA_intronic AC005899.4 rs6505295 0.515375 0 0 1 0 0 intronic intronic ncRNA_intronic ZNF207 ZNF207 ENSG00000265794 Na Na Na Na Na Na Het;G>C 262;6|9 Ref Hom;G>C 99;0|4 N N - 17 30689814 30689814 G A snp intronic ZNF207 Zfp207 ENSG00000010244 zinc finger protein 207 chr17:30677136-30708905 GO:0000070;mitotic sister chromatid segregation;IMP|GO:0001578;microtubule bundle formation;ISS|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0008608;attachment of spindle microtubules to kinetochore;IMP|GO:0046785;microtubule polymerization;ISS|GO:0050821;protein stabilization;IMP|GO:0051301;cell division;IEA|GO:0051983;regulation of chromosome segregation;IMP|GO:0090307;mitotic spindle assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:1990047;spindle matrix;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008201;heparin binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF207 https://www.uniprot.org/uniprot/O43670 https://www.ncbi.nlm.nih.gov/omim/?term=603428 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF207&submit=Quick%0D%512ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF207 rs9896320 0.47484 0 0 1 0 0 intronic intronic intronic ZNF207 ZNF207 ENSG00000010244 Na Na Na Na Na Na Het;G>A 87;10|4 Het;G>A 283;6|9 Hom;G>A 404;0|11 N N - 17 30696292 30696292 C T snp intronic ZNF207 Zfp207 ENSG00000010244 zinc finger protein 207 chr17:30677136-30708905 GO:0000070;mitotic sister chromatid segregation;IMP|GO:0001578;microtubule bundle formation;ISS|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0008608;attachment of spindle microtubules to kinetochore;IMP|GO:0046785;microtubule polymerization;ISS|GO:0050821;protein stabilization;IMP|GO:0051301;cell division;IEA|GO:0051983;regulation of chromosome segregation;IMP|GO:0090307;mitotic spindle assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:1990047;spindle matrix;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008201;heparin binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF207 https://www.uniprot.org/uniprot/O43670 https://www.ncbi.nlm.nih.gov/omim/?term=603428 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF207&submit=Quick%0D%512ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF207 rs2286645 0.516773 0.6451 0.5513 1 0 0 intronic intronic intronic ZNF207 ZNF207 ENSG00000010244 Na Na Na Na Na Na Het;C>T 620;17|16 Het;C>T 74;17|5 Hom;C>T 986;0|27 N N - 17 30791503 30791503 C T snp intronic PSMD11 Psmd11 ENSG00000108671 proteasome 26S subunit, non-ATPase 11 chr17:30771279-30810336 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043248;proteasome assembly;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0048863;stem cell differentiation;IMP|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;TAS|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005838;proteasome regulatory particle;IEA|GO:0008541;proteasome regulatory particle, lid subcomplex;IBA|GO:0016020;membrane;IDA|GO:0022624;proteasome accessory complex;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005198;structural molecule activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMD11 https://www.uniprot.org/uniprot/O00231 https://www.ncbi.nlm.nih.gov/omim/?term=604449 http://www.informatics.jax.org/searchtool/Search.do?query=PSMD11&submit=Quick%0D%3754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMD11 rs2302276 0.554113 0.6199 0.5580 1 0 0 intronic intronic intronic PSMD11 PSMD11 ENSG00000108671 Na Na Na Na Na Na Het;C>T 64;5|4 Het;C>T 331;11|13 Hom;C>T 201;0|8 N N - 17 30846334 30846334 C G snp ncRNA_exonic AC079336.1 rs28685302 0.411741 0 0 1 0 0 intronic intronic ncRNA_exonic MYO1D MYO1D ENSG00000263717 Na Na Na Na Na Na Het;C>G 38;5|3 Ref Hom;C>G 219;0|10 N N - 17 3119767 3119767 C T snp nonsynonymous SNV C853T P285S hydrophobic,neutral polar,hydrophilic,neutral OR1A1 Olfr43 ENSG00000172146 olfactory receptor family 1 subfamily A member 1 chr17:3118915-3119844 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR1A1 http://www.informatics.jax.org/searchtool/Search.do?query=OR1A1&submit=Quick%0D%13088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1A1 rs769427 0.342252 0.4491 0.4211 0.77 10 13 exonic exonic exonic OR1A1 OR1A1 ENSG00000172146 nonsynonymous SNV nonsynonymous SNV unknown OR1A1:NM_014565:exon1:c.C853T:p.P285S, OR1A1:uc010vrc.2:exon1:c.C853T:p.P285S, UNKNOWN Het;C>T 904;31|37 Het;C>T 1102;42|52 Hom;C>T 2442;2|92 N N - 17 3119871 3119871 C T snp downstream OR1A1 Olfr43 ENSG00000172146 olfactory receptor family 1 subfamily A member 1 chr17:3118915-3119844 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR1A1 http://www.informatics.jax.org/searchtool/Search.do?query=OR1A1&submit=Quick%0D%13088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1A1 rs17174920 0.361022 0.4498 0.4335 1 0 0 downstream downstream downstream OR1A1 OR1A1 ENSG00000172146 Na Na Na Na Na Na Het;C>T 271;13|11 Het;C>T 466;12|17 Hom;C>T 813;0|29 N N - 17 31860443 31860443 T C snp ncRNA_intronic AA06 rs4794955 0.676717 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AA06 AA06 ENSG00000265544 Na Na Na Na Na Na Het;T>C 224;21|11 Ref Hom;T>C 808;0|30 N N - 17 31860912 31860912 A G snp intronic ASIC2 Asic2 ENSG00000108684 acid sensing ion channel subunit 2 chr17:31340105-32501983 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] F8 protein, human; Alcoholism; Gout; Narcolepsy; Hypothyroidism; Stroke; Tobacco Use Disorder; Body Mass Index; Coronary Artery Disease; multiple sclerosis; C-Reactive Protein; Leukocyte Count; autism; Body Weight Mice homozygous for a knock-out allele exhibit decreased mechanoreceptor and spiral ganglion electrophysiology and decreased pressure-induced blood vessel constriction. Mice homozygous for a different knock-out allele exhibit retinal degeneration and abnormal eye electrophysiology. Stimuli-sensing channels GO:0003026;regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007417;central nervous system development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0007602;phototransduction;IEA|GO:0007605;sensory perception of sound;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010468;regulation of gene expression;IMP|GO:0015672;monovalent inorganic cation transport;TAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035418;protein localization to synapse;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050974;detection of mechanical stimulus involved in sensory perception;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015280;ligand-gated sodium channel activity;TAS|GO:0022839;ion gated channel activity;IEA|GO:0044736;acid-sensing ion channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ASIC2 https://www.uniprot.org/uniprot/Q16515 https://www.ncbi.nlm.nih.gov/omim/?term=601784 http://www.informatics.jax.org/searchtool/Search.do?query=ASIC2&submit=Quick%0D%3756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASIC2 rs1434586 0.673323 0 0 1 0 0 intronic intronic intronic ASIC2 ASIC2 ENSG00000108684 Na Na Na Na Na Na Het;A>G 206;1|6 Ref Hom;A>G 178;0|5 N N - 17 32010964 32010964 G A snp intronic ASIC2 Asic2 ENSG00000108684 acid sensing ion channel subunit 2 chr17:31340105-32501983 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] F8 protein, human; Alcoholism; Gout; Narcolepsy; Hypothyroidism; Stroke; Tobacco Use Disorder; Body Mass Index; Coronary Artery Disease; multiple sclerosis; C-Reactive Protein; Leukocyte Count; autism; Body Weight Mice homozygous for a knock-out allele exhibit decreased mechanoreceptor and spiral ganglion electrophysiology and decreased pressure-induced blood vessel constriction. Mice homozygous for a different knock-out allele exhibit retinal degeneration and abnormal eye electrophysiology. Stimuli-sensing channels GO:0003026;regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007417;central nervous system development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0007602;phototransduction;IEA|GO:0007605;sensory perception of sound;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010468;regulation of gene expression;IMP|GO:0015672;monovalent inorganic cation transport;TAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035418;protein localization to synapse;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050974;detection of mechanical stimulus involved in sensory perception;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015280;ligand-gated sodium channel activity;TAS|GO:0022839;ion gated channel activity;IEA|GO:0044736;acid-sensing ion channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ASIC2 https://www.uniprot.org/uniprot/Q16515 https://www.ncbi.nlm.nih.gov/omim/?term=601784 http://www.informatics.jax.org/searchtool/Search.do?query=ASIC2&submit=Quick%0D%3756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASIC2 rs34069671 0.158946 0 0 1 0 0 intronic intronic intronic ASIC2 ASIC2 ENSG00000108684 Na Na Na Na Na Na Het;G>A 601;14|21 Het;G>A 405;23|17 Hom;G>A 871;0|29 N N - 17 32501774 32501774 G A snp ncRNA_intronic BC062794 rs2003533 0.156749 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927239 BC062794 ENSG00000261156 Na Na Na Na Na Na Het;G>A 708;40|33 Ref Hom;G>A 2073;3|81 N N - 17 32505683 32505684 GA G indel ncRNA_intronic BC062794 rs74519648 0.140176 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927239 BC062794 ENSG00000261156 Na Na Na Na Na Na Het;-A 516;21|18 Ref Hom;-A 672;0|19 N N - 17 32505722 32505722 C T snp ncRNA_intronic BC062794 rs7218501 0.325879 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927239 BC062794 ENSG00000261156 Na Na Na Na Na Na Het;C>T 1092;39|46 Ref Hom;C>T 1546;1|53 N N - 17 32506573 32506573 G GT indel ncRNA_intronic BC062794 rs57177033 0.569289 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927239 BC062794 ENSG00000261156 Na Na Na Na Na Na Het;+T 51;2|4 Ref Hom;+T 53;0|4 N N - 17 32509256 32509256 C G snp ncRNA_intronic BC062794 rs17614093 0.395168 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927239 BC062794 ENSG00000261156 Na Na Na Na Na Na Het;C>G 46;14|3 Ref Hom;C>G 484;0|13 N N - 17 32686453 32686453 A G snp downstream CCL1 Ccl1 ENSG00000108702 C-C motif chemokine ligand 1 chr17:32687347-32690250 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014] Lymphocytes; colorectal cancer; Basophils; Uric Acid; Meningeal Neoplasms|meningioma; leishmaniasis, visceral; asthma; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; breast cancer ; HIV; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Carotid Artery Diseases; multiple sclerosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Echocardiography; Neutrophils; respiratory syncytial virus bronchiolitis; Alkaline Phosphatase; Erythrocytes; chronic obstructive pulmonary disease/COPD Mice homozygous for a targeted null allele are refractory to the anti-inflammatory response of the statin drug lovastatin and fail to exhibit an increase in regulatory T cell recruitment to sites of inflammation in a model of delayed-type hypersensitivity. Chemokine receptors bind chemokines GO:0002548;monocyte chemotaxis;IBA|GO:0006874;cellular calcium ion homeostasis;TAS|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0016032;viral process;TAS|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0051384;response to glucocorticoid;IEA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:0090026;positive regulation of monocyte chemotaxis;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005623;cell;IEA GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;TAS|GO:0048020;CCR chemokine receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CCL1 https://www.uniprot.org/uniprot/P22362 https://www.ncbi.nlm.nih.gov/omim/?term=182281 http://www.informatics.jax.org/searchtool/Search.do?query=CCL1&submit=Quick%0D%3760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL1 rs404373 0.330871 0 0 1 0 0 downstream downstream downstream CCL1,CCL13 CCL1,CCL13 ENSG00000108702,ENSG00000181374 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 332;0|8 N N - 17 32686454 32686454 A G snp downstream CCL1 Ccl1 ENSG00000108702 C-C motif chemokine ligand 1 chr17:32687347-32690250 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014] Lymphocytes; colorectal cancer; Basophils; Uric Acid; Meningeal Neoplasms|meningioma; leishmaniasis, visceral; asthma; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; breast cancer ; HIV; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Carotid Artery Diseases; multiple sclerosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Echocardiography; Neutrophils; respiratory syncytial virus bronchiolitis; Alkaline Phosphatase; Erythrocytes; chronic obstructive pulmonary disease/COPD Mice homozygous for a targeted null allele are refractory to the anti-inflammatory response of the statin drug lovastatin and fail to exhibit an increase in regulatory T cell recruitment to sites of inflammation in a model of delayed-type hypersensitivity. Chemokine receptors bind chemokines GO:0002548;monocyte chemotaxis;IBA|GO:0006874;cellular calcium ion homeostasis;TAS|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0016032;viral process;TAS|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0051384;response to glucocorticoid;IEA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:0090026;positive regulation of monocyte chemotaxis;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005623;cell;IEA GO:0005125;cytokine activity;IEA|GO:0008009;chemokine activity;TAS|GO:0048020;CCR chemokine receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CCL1 https://www.uniprot.org/uniprot/P22362 https://www.ncbi.nlm.nih.gov/omim/?term=182281 http://www.informatics.jax.org/searchtool/Search.do?query=CCL1&submit=Quick%0D%3760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL1 rs441592 0.330471 0 0 1 0 0 downstream downstream downstream CCL1,CCL13 CCL1,CCL13 ENSG00000108702,ENSG00000181374 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 332;0|8 N N - 17 32904586 32904586 C T snp nonsynonymous SNV G464A R155K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) C17orf102 rs887230 0.796526 0.8575 0.8248 1 0 0 exonic exonic exonic C17orf102 C17orf102 ENSG00000197322 nonsynonymous SNV nonsynonymous SNV unknown C17orf102:NM_207454:exon2:c.G464A:p.R155K, C17orf102:uc002hie.1:exon2:c.G464A:p.R155K, UNKNOWN Het;C>T 1301;55|61 Het;C>T 751;63|39 Hom;C>T 2814;0|107 N N - 17 33015408 33015408 A G snp intergenic TMEM132E Tmem132e ENSG00000181291 transmembrane protein 132E chr17:32907768-32966337 Albumins; Coronary Disease; Stroke; Arteries GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM132E https://www.ncbi.nlm.nih.gov/omim/?term=616178 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132E&submit=Quick%0D%14602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132E rs6505425 0.509784 0 0 1 0 0 intergenic intergenic intergenic TMEM132E(dist=49066),CCT6B(dist=239470) TMEM132E(dist=49071),CCT6B(dist=239470) ENSG00000181291(dist=49071),ENSG00000264174(dist=37120) Na Na Na Na Na Na Het;A>G 163;5|8 Het;A>G 55;7|4 Hom;A>G 626;0|18 N N - 17 33330150 33330150 A C snp UTR3 *83A>C LIG3 Lig3 ENSG00000005156 DNA ligase 3 chr17:33307513-33332083 This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] benzene haematotoxicity; lung cancer ; QT interval; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; bladder cancer; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; Chronic renal failure|Kidney Failure, Chronic; esophageal cancer; chronic obstructive pulmonary disease; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Pancreatic Neoplasms; Hematologic Neoplasms; lung cancer; esophageal adenocarcinoma; epithelial ovarian cancer ; breast cancer; colorectal cancer; breast cancer ; multiple sclerosis; Colorectal Neoplasms; Graft vs Host Disease; Tobacco Use Disorder; Electrocardiography Targeted inactivation of this gene causes embryonic growth arrest at 8.5 dpc, followed by excessive apoptosis at 9.5 dpc, and ultimately death, likely due to unrepaired DNA damage. Homozygous mutant cells display elevated sister chromatid exchange. Gap-filling DNA repair synthesis and ligation in TC-NER GO:0000724;double-strand break repair via homologous recombination;TAS|GO:0006260;DNA replication;IEA|GO:0006266;DNA ligation;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006288;base-excision repair, DNA ligation;TAS|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0006302;double-strand break repair;IDA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0051103;DNA ligation involved in DNA repair;IEA|GO:0051301;cell division;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:0090298;negative regulation of mitochondrial DNA replication;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003909;DNA ligase activity;TAS|GO:0003910;DNA ligase (ATP) activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIG3 https://www.uniprot.org/uniprot/P49916 https://www.ncbi.nlm.nih.gov/omim/?term=600940 http://www.informatics.jax.org/searchtool/Search.do?query=LIG3&submit=Quick%0D%349ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIG3 rs4796030 0.616014 0 0 1 0 0 UTR3 UTR3 UTR3 LIG3(NM_002311:c.*83A>C) LIG3(uc002hij.3:c.*83A>C) ENSG00000005156(ENST00000262327:c.*83A>C) Na Na Na Na Na Na Het;A>C 141;10|7 Het;A>C 147;15|7 Hom;A>C 643;1|26 N N - 17 33341834 33341834 T C snp ncRNA_intronic RAD51L3-RFFL rs2074519 0.609625 0.6619 0.5989 1 0 0 ncRNA_intronic intronic intronic RAD51L3-RFFL RAD51L3-RFFL,RFFL ENSG00000092871,ENSG00000267618 Na Na Na Na Na Na Het;T>C 714;29|30 Het;T>C 551;17|24 Hom;T>C 1809;0|67 N N - 17 33353332 33353332 T C snp ncRNA_intronic RAD51L3-RFFL rs3926358 0.685104 0 0 1 0 0 ncRNA_intronic intronic intronic RAD51L3-RFFL RAD51L3-RFFL,RFFL ENSG00000092871,ENSG00000267618 Na Na Na Na Na Na Het;T>C 140;7|5 Het;T>C 63;9|3 Hom;T>C 348;0|9 N N - 17 33879670 33879670 C CAT indel intronic SLFN14 Slfn14 ENSG00000236320 schlafen family member 14 chr17:33875144-33885117 The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016] Platelet Count GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLFN14 https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614958 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14 rs71366453 0 0 0 1 0 0 intronic intronic intronic SLFN14 SLFN14 ENSG00000236320 Na Na Na Na Na Na Het;+AT 174;8|5 Ref Hom;+AT 317;0|8 N N - 17 33879682 33879682 C CAT indel intronic SLFN14 Slfn14 ENSG00000236320 schlafen family member 14 chr17:33875144-33885117 The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016] Platelet Count GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLFN14 https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614958 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14 rs57435029 0 0 0 1 0 0 intronic intronic intronic SLFN14 SLFN14 ENSG00000236320 Na Na Na Na Na Na Het;+AT 198;12|7 Ref Hom;+AT 408;0|11 N N - 17 33880584 33880584 A G snp ncRNA_intronic AC015911.6 rs321607 0.492812 0 0 1 0 0 intronic intronic ncRNA_intronic SLFN14 SLFN14 ENSG00000267359 Na Na Na Na Na Na Het;A>G 95;12|5 Ref Hom;A>G 184;0|6 N N - 17 33881453 33881453 T G snp ncRNA_intronic AC015911.6 rs321611 0.786342 0 0 1 0 0 intronic intronic ncRNA_intronic SLFN14 SLFN14 ENSG00000267359 Na Na Na Na Na Na Het;T>G 496;24|23 Ref Hom;T>G 1298;0|46 N N - 17 33881631 33881631 T C snp nonsynonymous SNV A1153G K385E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) SLFN14 Slfn14 ENSG00000236320 schlafen family member 14 chr17:33875144-33885117 The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016] Platelet Count GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLFN14 https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614958 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14 rs321612 0.627196 0.6301 0.5782 0.08 1 12 exonic exonic exonic SLFN14 SLFN14 ENSG00000236320 nonsynonymous SNV nonsynonymous SNV unknown SLFN14:NM_001129820:exon2:c.A1153G:p.K385E, SLFN14:uc010ctu.1:exon2:c.A1153G:p.K385E, UNKNOWN Het;T>C 1657;91|80 Ref Hom;T>C 3657;0|128 N N - 17 33881718 33881718 G A snp nonsynonymous SNV C1066T P356S hydrophobic,neutral polar,hydrophilic,neutral SLFN14 Slfn14 ENSG00000236320 schlafen family member 14 chr17:33875144-33885117 The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016] Platelet Count GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLFN14 https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614958 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14 rs321613 0.627396 0.6297 0.5795 0.08 1 12 exonic exonic exonic SLFN14 SLFN14 ENSG00000236320 nonsynonymous SNV nonsynonymous SNV unknown SLFN14:NM_001129820:exon2:c.C1066T:p.P356S, SLFN14:uc010ctu.1:exon2:c.C1066T:p.P356S, UNKNOWN Het;G>A 2324;90|66 Ref Hom;G>A 5448;1|129 N N - 17 33881734 33881734 A G snp ncRNA_exonic AC015911.6 rs321614 0.394569 0.4770 0.4450 1 0 0 intronic intronic ncRNA_exonic SLFN14 SLFN14 ENSG00000267359 Na Na Na Na Na Na Het;A>G 2401;87|65 Ref Hom;A>G 5275;2|125 N N - 17 33881907 33881907 C G snp intronic SLFN14 Slfn14 ENSG00000236320 schlafen family member 14 chr17:33875144-33885117 The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016] Platelet Count GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLFN14 https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614958 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14 rs2977 0.627596 0 0 1 0 0 intronic intronic intronic SLFN14 SLFN14 ENSG00000236320 Na Na Na Na Na Na Het;C>G 3444;119|146 Ref Hom;C>G 7317;1|263 N N - 17 33882244 33882244 A C snp intronic SLFN14 Slfn14 ENSG00000236320 schlafen family member 14 chr17:33875144-33885117 The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016] Platelet Count GO:0006402;mRNA catabolic process;IDA|GO:0016075;rRNA catabolic process;IDA|GO:0036345;platelet maturation;IMP|GO:0071286;cellular response to magnesium ion;ISS|GO:0071287;cellular response to manganese ion;ISS|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLFN14 https://hpo.jax.org/app/browse/search?q=SLFN14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614958 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN14&submit=Quick%0D%19408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN14 rs186503 0.394569 0 0 1 0 0 intronic intronic intronic SLFN14 SLFN14 ENSG00000236320 Na Na Na Na Na Na Het;A>C 230;4|8 Ref Hom;A>C 146;0|5 N N - 17 33901917 33901921 TTAAG T indel UTR3 *884_*880delinsA PEX12 Pex12 ENSG00000108733 peroxisomal biogenesis factor 12 chr17:33901814-33905882 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] ZELLWEGER SYNDROME E3 ubiquitin ligases ubiquitinate target proteins GO:0006513;protein monoubiquitination;IBA|GO:0006625;protein targeting to peroxisome;NAS|GO:0007031;peroxisome organization;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0016567;protein ubiquitination;TAS GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990429;peroxisomal importomer complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PEX12 https://www.uniprot.org/uniprot/O00623 https://hpo.jax.org/app/browse/search?q=PEX12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601758 http://www.informatics.jax.org/searchtool/Search.do?query=PEX12&submit=Quick%0D%3761ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX12 rs35050283 0.446486 0 0 1 0 0 UTR3 UTR3 UTR3 PEX12(NM_000286:c.*884_*880delinsA) PEX12(uc002hjp.3:c.*884_*880delinsA) ENSG00000108733(ENST00000225873:c.*884_*880delinsA) Na Na Na Na Na Na Het;-TAAG 494;19|14 Het;-TAAG 584;31|17 Hom;-TAAG 1539;0|35 N N - 17 33905468 33905468 A G snp UTR5 -428T>C PEX12 Pex12 ENSG00000108733 peroxisomal biogenesis factor 12 chr17:33901814-33905882 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] ZELLWEGER SYNDROME E3 ubiquitin ligases ubiquitinate target proteins GO:0006513;protein monoubiquitination;IBA|GO:0006625;protein targeting to peroxisome;NAS|GO:0007031;peroxisome organization;IMP|GO:0016558;protein import into peroxisome matrix;IMP|GO:0016567;protein ubiquitination;TAS GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990429;peroxisomal importomer complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PEX12 https://www.uniprot.org/uniprot/O00623 https://hpo.jax.org/app/browse/search?q=PEX12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601758 http://www.informatics.jax.org/searchtool/Search.do?query=PEX12&submit=Quick%0D%3761ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX12 rs321600 0.877396 0 0 1 0 0 UTR5 UTR5 UTR5 PEX12(NM_000286:c.-428T>C) PEX12(uc002hjp.3:c.-428T>C) ENSG00000108733(ENST00000225873:c.-428T>C,ENST00000586663:c.-428T>C) Na Na Na Na Na Na Het;A>G 645;27|29 Het;A>G 202;15|12 Hom;A>G 1013;0|38 N N - 17 33933006 33933006 A C snp intronic AP2B1 Ap2b1 ENSG00000006125 adaptor related protein complex 2 beta 1 subunit chr17:33905065-34053436 The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Platelet Count Mice homozygous for a transgenic gene disruption exhibit cleft palate. LDL clearance GO:0003279;cardiac septum development;IEA|GO:0003281;ventricular septum development;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0007507;heart development;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0035904;aorta development;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048268;clathrin coat assembly;IEA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS|GO:0099590;neurotransmitter receptor internalization;IEA|GO:0003279;cardiac septum development;IEA|GO:0003281;ventricular septum development;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0007507;heart development;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0035904;aorta development;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048268;clathrin coat assembly;IEA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS|GO:0099590;neurotransmitter receptor internalization;IEA GO:0005737;cytoplasm;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030118;clathrin coat;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0036020;endolysosome membrane;TAS GO:0005048;signal sequence binding;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0030276;clathrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0035615;clathrin adaptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AP2B1 https://www.uniprot.org/uniprot/P63010 https://www.ncbi.nlm.nih.gov/omim/?term=601025 http://www.informatics.jax.org/searchtool/Search.do?query=AP2B1&submit=Quick%0D%58ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP2B1 rs225284 0.447684 0 0 1 0 0 intronic intronic intronic AP2B1 AP2B1 ENSG00000006125 Na Na Na Na Na Na Het;A>C 46;2|2 Het;A>C 132;1|4 Hom;A>C 235;0|7 N N - 17 33998802 33998802 G C snp synonymous SNV G2061C V687V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AP2B1 Ap2b1 ENSG00000006125 adaptor related protein complex 2 beta 1 subunit chr17:33905065-34053436 The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Platelet Count Mice homozygous for a transgenic gene disruption exhibit cleft palate. LDL clearance GO:0003279;cardiac septum development;IEA|GO:0003281;ventricular septum development;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0007507;heart development;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0035904;aorta development;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048268;clathrin coat assembly;IEA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS|GO:0099590;neurotransmitter receptor internalization;IEA|GO:0003279;cardiac septum development;IEA|GO:0003281;ventricular septum development;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0007507;heart development;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0035904;aorta development;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048268;clathrin coat assembly;IEA|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS|GO:0099590;neurotransmitter receptor internalization;IEA GO:0005737;cytoplasm;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030118;clathrin coat;IEA|GO:0030122;AP-2 adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0036020;endolysosome membrane;TAS GO:0005048;signal sequence binding;TAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0030276;clathrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0035615;clathrin adaptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AP2B1 https://www.uniprot.org/uniprot/P63010 https://www.ncbi.nlm.nih.gov/omim/?term=601025 http://www.informatics.jax.org/searchtool/Search.do?query=AP2B1&submit=Quick%0D%58ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP2B1 rs1049379 0.471046 0.4935 0.4880 1 0 0 exonic exonic exonic AP2B1 AP2B1 ENSG00000006125 synonymous SNV synonymous SNV unknown AP2B1:NM_001030006:exon16:c.G2061C:p.V687V,AP2B1:NM_001282:exon15:c.G2019C:p.V673V, AP2B1:uc010wcj.2:exon12:c.G1272C:p.V424V,AP2B1:uc002hjr.3:exon15:c.G2019C:p.V673V,AP2B1:uc010ctv.3:exon16:c.G2061C:p.V687V,AP2B1:uc010wci.2:exon16:c.G1947C:p.V649V,AP2B1:uc002hjq.3:exon16:c.G2061C:p.V687V,AP2B1:uc002hjs.3:exon16:c.G1848C:p.V616V,AP2B1:uc002hjt.3:exon16:c.G2061C:p.V687V, UNKNOWN Het;G>C 76;6|4 Het;G>C 40;5|3 Hom;G>C 290;0|12 N N - 17 3414160 3414160 T C snp UTR3 *3667A>G TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs2271158 0.434305 0 0 1 0 0 UTR3 UTR3 UTR3 TRPV3(NM_001258205:c.*3051A>G,NM_145068:c.*3051A>G) TRPV3(uc010vrl.2:c.*3051A>G,uc010vrh.2:c.*3051A>G,uc010vri.2:c.*3051A>G,uc002fvr.3:c.*3051A>G,uc002fvt.2:c.*3051A>G,uc010vrj.2:c.*3051A>G) ENSG00000167723(ENST00000381913:c.*3667A>G) Na Na Na Na Na Na Het;T>C 900;26|37 Het;T>C 603;45|29 Hom;T>C 1856;0|65 N N - 17 3415678 3415678 T G snp UTR3 *2149A>C TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs1507614 0.434105 0 0 1 0 0 UTR3 UTR3 UTR3 TRPV3(NM_001258205:c.*1533A>C,NM_145068:c.*1533A>C) TRPV3(uc010vrl.2:c.*1533A>C,uc010vrh.2:c.*1533A>C,uc010vri.2:c.*1533A>C,uc002fvr.3:c.*1533A>C,uc002fvt.2:c.*1533A>C,uc010vrj.2:c.*1533A>C) ENSG00000167723(ENST00000381913:c.*2149A>C) Na Na Na Na Na Na Het;T>G 629;13|25 Het;T>G 536;25|24 Hom;T>G 1183;0|46 N N - 17 3416172 3416172 A G snp UTR3 *1655T>C TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs10852860 0.564896 0 0 1 0 0 UTR3 UTR3 UTR3 TRPV3(NM_001258205:c.*1039T>C,NM_145068:c.*1039T>C) TRPV3(uc010vrl.2:c.*1039T>C,uc010vrh.2:c.*1039T>C,uc010vri.2:c.*1039T>C,uc002fvr.3:c.*1039T>C,uc002fvt.2:c.*1039T>C,uc010vrj.2:c.*1039T>C) ENSG00000167723(ENST00000381913:c.*1655T>C) Na Na Na Na Na Na Het;A>G 1406;100|70 Het;A>G 1742;67|82 Hom;A>G 3481;0|128 N N - 17 3446839 3446839 A G snp nonsynonymous SNV T395C V132A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs139870087 0.00539137 7.7e-05 0.0047 0.23 3 13 exonic exonic exonic TRPV3 TRPV3 ENSG00000167723 nonsynonymous SNV nonsynonymous SNV unknown TRPV3:NM_001258205:exon5:c.T395C:p.V132A,TRPV3:NM_145068:exon5:c.T395C:p.V132A, TRPV3:uc002fvr.3:exon5:c.T395C:p.V132A,TRPV3:uc010vri.2:exon3:c.T260C:p.V87A,TRPV3:uc010vrj.2:exon6:c.T347C:p.V116A,TRPV3:uc010vrl.2:exon4:c.T347C:p.V116A,TRPV3:uc002fvu.3:exon5:c.T395C:p.V132A,TRPV3:uc002fvt.2:exon5:c.T395C:p.V132A,TRPV3:uc010vrh.2:exon4:c.T347C:p.V116A, UNKNOWN Het;A>G 1519;85|70 Het;A>G 1824;88|83 Hom;A>G 3388;0|117 N N - 17 3448331 3448331 A T snp intronic TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs12945853 0.221446 0 0 1 0 0 intronic intronic intronic TRPV3 TRPV3 ENSG00000167723 Na Na Na Na Na Na Het;A>T 218;6|10 Het;A>T 231;6|9 Hom;A>T 262;0|9 N N - 17 3448434 3448434 A G snp intronic TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs9911213 0.255192 0.2963 0.3249 1 0 0 intronic intronic intronic TRPV3 TRPV3 ENSG00000167723 Na Na Na Na Na Na Het;A>G 1071;51|46 Het;A>G 747;60|37 Hom;A>G 1830;0|70 N N - 17 3448722 3448722 G A snp intronic TRPV3 Trpv3 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 chr17:3413796-3461289 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Olmsted syndrome Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0009266;response to temperature stimulus;IEA|GO:0009408;response to heat;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042636;negative regulation of hair cycle;IMP|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0090280;positive regulation of calcium ion import;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRPV3 https://hpo.jax.org/app/browse/search?q=TRPV3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607066 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV3&submit=Quick%0D%12094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV3 rs422159 0.246006 0 0 1 0 0 intronic intronic intronic TRPV3 TRPV3 ENSG00000167723 Na Na Na Na Na Na Het;G>A 113;4|4 Het;G>A 40;3|2 Hom;G>A 176;0|5 N N - 17 3518976 3518976 A G snp intronic SHPK Shpk ENSG00000197417 sedoheptulokinase chr17:3511556-3539616 The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Carotid artery stenosis|Carotid Stenosis Pentose phosphate pathway (hexose monophosphate shunt) GO:0005975;carbohydrate metabolic process;IDA|GO:0006098;pentose-phosphate shunt;TAS|GO:0009052;pentose-phosphate shunt, non-oxidative branch;ISS|GO:0016310;phosphorylation;IDA|GO:0035963;cellular response to interleukin-13;ISS|GO:0043030;regulation of macrophage activation;ISS|GO:0050727;regulation of inflammatory response;ISS|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071353;cellular response to interleukin-4;ISS GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0050277;sedoheptulokinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SHPK https://hpo.jax.org/app/browse/search?q=SHPK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605060 http://www.informatics.jax.org/searchtool/Search.do?query=SHPK&submit=Quick%0D%16622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHPK rs2660974 0.794329 0 0 1 0 0 intronic intronic intronic SHPK SHPK ENSG00000197417,ENSG00000262304 Na Na Na Na Na Na Het;A>G 79;1|3 Ref Hom;A>G 175;0|5 N N - 17 35285218 35285224 GCACACA G indel ncRNA_intronic ENSG00000255509 rs140574068 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic MRM1(dist=319811),LHX1(dist=9548) 7SK(dist=246257),BC084573(dist=4185) ENSG00000255509 Na Na Na Na Na Na Het;-CACACA 284;5|8 Ref Hom;-CACACA 305;0|8 N N - 17 35285226 35285226 A G snp ncRNA_intronic ENSG00000255509 rs77100991 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic MRM1(dist=319819),LHX1(dist=9546) 7SK(dist=246265),BC084573(dist=4183) ENSG00000255509 Na Na Na Na Na Na Het;A>G 196;5|7 Ref Hom;A>G 200;1|7 N N - 17 3558698 3558698 G A snp intronic CTNS Ctns ENSG00000040531 cystinosin, lysosomal cystine transporter chr17:3539762-3564836 This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] blood pressure, arterial hypertension Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude. Miscellaneous transport and binding events GO:0002088;lens development in camera-type eye;IEA|GO:0006520;cellular amino acid metabolic process;NAS|GO:0006749;glutathione metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0007420;brain development;IMP|GO:0007616;long-term memory;IEA|GO:0007625;grooming behavior;IEA|GO:0007628;adult walking behavior;IEA|GO:0008542;visual learning;IEA|GO:0015811;L-cystine transport;IMP|GO:0042438;melanin biosynthetic process;IEA|GO:0046034;ATP metabolic process;IMP|GO:0050890;cognition;IMP|GO:0055085;transmembrane transport;TAS GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0005770;late endosome;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042470;melanosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0015184;L-cystine transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CTNS https://www.uniprot.org/uniprot/O60931 https://hpo.jax.org/app/browse/search?q=CTNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606272 http://www.informatics.jax.org/searchtool/Search.do?query=CTNS&submit=Quick%0D%819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNS rs467277 0.571685 0.5029 0.5618 1 0 0 intronic intronic intronic CTNS CTNS ENSG00000040531 Na Na Na Na Na Na Het;G>A 1446;46|60 Het;G>A 1085;43|51 Hom;G>A 3321;0|95 N N - 17 35818739 35818745 TTGTGTG T indel intronic TADA2A Tada2a ENSG00000277104 transcriptional adaptor 2A chr17:35766965-35839835 Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009] Breath Tests; Hypercholesterolemia|LDLC levels HATs acetylate histones GO:0006338;chromatin remodeling;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0035065;regulation of histone acetylation;IEA|GO:0035066;positive regulation of histone acetylation;IBA|GO:0043966;histone H3 acetylation;IDA GO:0000125;PCAF complex;IDA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003712;transcription cofactor activity;TAS|GO:0003713;transcription coactivator activity;IBA|GO:0004402;histone acetyltransferase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TADA2A https://www.ncbi.nlm.nih.gov/omim/?term=602276 http://www.informatics.jax.org/searchtool/Search.do?query=TADA2A&submit=Quick%0D%21757ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA2A rs72377203 0 0 0.2371 1 0 0 intronic intronic intronic TADA2A TADA2A ENSG00000108264 Na Na Na Na Na Na Het;-TGTGTG 353;22|13 Ref Hom;-TGTGTG 298;1|9 N N - 17 3637953 3637953 C T snp intronic ITGAE Itgae ENSG00000083457 integrin subunit alpha E chr17:3617922-3704537 Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] Sarcoidosis; Attention Deficit Disorder with Hyperactivity; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Dengue Hemorrhagic Fever; Leukemia, Lymphocytic, Chronic, B-Cell; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; ADHD | attention-deficit hyperactivity disorder Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria. Integrin cell surface interactions GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGAE https://www.uniprot.org/uniprot/P38570 https://www.ncbi.nlm.nih.gov/omim/?term=604682 http://www.informatics.jax.org/searchtool/Search.do?query=ITGAE&submit=Quick%0D%1828ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAE rs178323 0.657149 0 0 1 0 0 intronic intronic intronic ITGAE ITGAE ENSG00000083457 Na Na Na Na Na Na Het;C>T 36;4|2 Ref Hom;C>T 225;0|7 N N - 17 3658358 3658358 A AGGCCCCGCCCTCATCAGGT indel intronic ITGAE Itgae ENSG00000083457 integrin subunit alpha E chr17:3617922-3704537 Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] Sarcoidosis; Attention Deficit Disorder with Hyperactivity; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Dengue Hemorrhagic Fever; Leukemia, Lymphocytic, Chronic, B-Cell; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; ADHD | attention-deficit hyperactivity disorder Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria. Integrin cell surface interactions GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGAE https://www.uniprot.org/uniprot/P38570 https://www.ncbi.nlm.nih.gov/omim/?term=604682 http://www.informatics.jax.org/searchtool/Search.do?query=ITGAE&submit=Quick%0D%1828ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAE rs3833165 0 0 0 1 0 0 intronic intronic intronic ITGAE ITGAE ENSG00000083457 Na Na Na Na Na Na Het;+GGCCCCGCCCTCATCAGGT 178;12|3 Ref Hom;+GGCCCCGCCCTCATCAGGT 560;0|7 N N - 17 36634283 36634283 A T snp intronic ARHGAP23 Arhgap23 ENSG00000275832 Rho GTPase activating protein 23 chr17:36584662-36668628 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP23 https://www.ncbi.nlm.nih.gov/omim/?term=610590 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP23&submit=Quick%0D%21460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP23 rs7219798 0.354832 0 0 1 0 0 intronic intronic intronic ARHGAP23 ARHGAP23 ENSG00000225485 Na Na Na Na Na Na Het;A>T 147;1|5 Ref Hom;A>T 97;0|4 N N - 17 36635721 36635721 C T snp synonymous SNV C2481T N827N polar,hydrophilic,neutral polar,hydrophilic,neutral ARHGAP23 Arhgap23 ENSG00000275832 Rho GTPase activating protein 23 chr17:36584662-36668628 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP23 https://www.ncbi.nlm.nih.gov/omim/?term=610590 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP23&submit=Quick%0D%21460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP23 rs7405920 0.956869 0.9489 0.9406 1 0 0 exonic exonic exonic ARHGAP23 ARHGAP23 ENSG00000225485 synonymous SNV synonymous SNV unknown ARHGAP23:NM_001199417:exon13:c.C2481T:p.N827N, ARHGAP23:uc021twe.1:exon12:c.C2199T:p.N733N,ARHGAP23:uc002hqc.3:exon7:c.C1863T:p.N621N,ARHGAP23:uc021twd.1:exon13:c.C2481T:p.N827N, UNKNOWN Het;C>T 272;16|14 Het;C>T 207;16|13 Hom;C>T 680;0|27 N N - 17 36638948 36638948 A G snp intronic ARHGAP23 Arhgap23 ENSG00000275832 Rho GTPase activating protein 23 chr17:36584662-36668628 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP23 https://www.ncbi.nlm.nih.gov/omim/?term=610590 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP23&submit=Quick%0D%21460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP23 rs2303992 0.926318 0 0.9350 1 0 0 intronic intronic intronic ARHGAP23 ARHGAP23 ENSG00000225485 Na Na Na Na Na Na Het;A>G 665;33|28 Het;A>G 667;36|28 Hom;A>G 1514;0|53 N N - 17 36646291 36646291 A G snp intronic ARHGAP23 Arhgap23 ENSG00000275832 Rho GTPase activating protein 23 chr17:36584662-36668628 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP23 https://www.ncbi.nlm.nih.gov/omim/?term=610590 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP23&submit=Quick%0D%21460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP23 rs12937928 0.690495 0.6524 0 1 0 0 intronic intronic intronic ARHGAP23 ARHGAP23 ENSG00000225485 Na Na Na Na Na Na Het;A>G 463;23|17 Het;A>G 341;14|15 Hom;A>G 1047;0|38 N N - 17 36666551 36666551 T C snp synonymous SNV T3819C D1273D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ARHGAP23 Arhgap23 ENSG00000275832 Rho GTPase activating protein 23 chr17:36584662-36668628 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP23 https://www.ncbi.nlm.nih.gov/omim/?term=610590 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP23&submit=Quick%0D%21460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP23 rs62074752 0.83746 0 0.8083 1 0 0 exonic exonic exonic ARHGAP23 ARHGAP23 ENSG00000225485 synonymous SNV synonymous SNV unknown ARHGAP23:NM_001199417:exon24:c.T3819C:p.D1273D, ARHGAP23:uc021twd.1:exon24:c.T3819C:p.D1273D, UNKNOWN Het;T>C 1528;54|74 Het;T>C 967;60|51 Hom;T>C 2843;0|108 N N - 17 36700376 36700376 C G snp intronic SRCIN1 Srcin1 ENSG00000277363 SRC kinase signaling inhibitor 1 chr17:36686251-36762183 Stroke; Lupus Erythematosus, Systemic Mice homozygous for a knock-out allele display abnormalities in object recognition memory and motor learning, dendritic spine disorganization, impaired synaptic plasticity, and reduced long term potentiation and long term depression. GO:0006887;exocytosis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0050709;negative regulation of protein secretion;IEA|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0061099;negative regulation of protein tyrosine kinase activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IDA|GO:0019904;protein domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRCIN1 https://www.ncbi.nlm.nih.gov/omim/?term=610786 http://www.informatics.jax.org/searchtool/Search.do?query=SRCIN1&submit=Quick%0D%21817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRCIN1 rs2502363 0.375 0 0 1 0 0 intronic intronic intronic SRCIN1 SRCIN1 ENSG00000017373 Na Na Na Na Na Na Het;C>G 308;6|9 Ref Hom;C>G 177;0|5 N N - 17 36708648 36708648 A C snp intronic SRCIN1 Srcin1 ENSG00000277363 SRC kinase signaling inhibitor 1 chr17:36686251-36762183 Stroke; Lupus Erythematosus, Systemic Mice homozygous for a knock-out allele display abnormalities in object recognition memory and motor learning, dendritic spine disorganization, impaired synaptic plasticity, and reduced long term potentiation and long term depression. GO:0006887;exocytosis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0050709;negative regulation of protein secretion;IEA|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0061099;negative regulation of protein tyrosine kinase activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IDA|GO:0019904;protein domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRCIN1 https://www.ncbi.nlm.nih.gov/omim/?term=610786 http://www.informatics.jax.org/searchtool/Search.do?query=SRCIN1&submit=Quick%0D%21817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRCIN1 rs35447171 0.303914 0.2894 0.2806 1 0 0 intronic intronic intronic SRCIN1 SRCIN1 ENSG00000017373 Na Na Na Na Na Na Het;A>C 1150;66|48 Ref Hom;A>C 2283;1|86 N N - 17 36718610 36718610 T A snp intronic SRCIN1 Srcin1 ENSG00000277363 SRC kinase signaling inhibitor 1 chr17:36686251-36762183 Stroke; Lupus Erythematosus, Systemic Mice homozygous for a knock-out allele display abnormalities in object recognition memory and motor learning, dendritic spine disorganization, impaired synaptic plasticity, and reduced long term potentiation and long term depression. GO:0006887;exocytosis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0050709;negative regulation of protein secretion;IEA|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0061099;negative regulation of protein tyrosine kinase activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IDA|GO:0019904;protein domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRCIN1 https://www.ncbi.nlm.nih.gov/omim/?term=610786 http://www.informatics.jax.org/searchtool/Search.do?query=SRCIN1&submit=Quick%0D%21817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRCIN1 rs6503709 0.988219 0.9772 0.9710 1 0 0 intronic intronic intronic SRCIN1 SRCIN1 ENSG00000017373 Na Na Na Na Na Na Het;T>A 182;22|11 Het;T>A 247;22|14 Hom;T>A 1208;0|44 N N - 17 36909061 36909061 A G snp UTR5 -19A>G ENSG00000108294 rs228274 0.784944 0.7938 0.8172 1 0 0 UTR5 UTR5 UTR5 PSMB3(NM_002795:c.-19A>G) PSMB3(uc002hqr.3:c.-19A>G) ENSG00000108294(ENST00000225426:c.-19A>G,ENST00000579088:c.-348A>G,ENST00000584662:c.-19A>G,ENST00000579729:c.-19A>G) Na Na Na Na Na Na Het;A>G 1809;98|90 Het;A>G 1444;89|75 Hom;A>G 4224;0|154 N N - 17 36934124 36934124 C T snp intronic PIP4K2B Pip4k2b ENSG00000277292 phosphatidylinositol-5-phosphate 4-kinase type 2 beta chr17:36921942-36956379 The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008] Alzheimer's disease Mice homozygous for disruptions in this gene are smaller than normal with less body fat and an increased sensitivity to insulin. Synthesis of PIPs in the nucleus GO:0006644;phospholipid metabolic process;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0010506;regulation of autophagy;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IMP|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;IDA|GO:0016309;1-phosphatidylinositol-5-phosphate 4-kinase activity;EXP|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIP4K2B https://www.ncbi.nlm.nih.gov/omim/?term=603261 http://www.informatics.jax.org/searchtool/Search.do?query=PIP4K2B&submit=Quick%0D%21800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP4K2B rs2075061 0.588059 0 0 1 0 0 intronic intronic intronic PIP4K2B PIP4K2B ENSG00000141720 Na Na Na Na Na Na Het;C>T 702;20|30 Ref Hom;C>T 1297;0|41 N N - 17 3806794 3806794 C G snp intronic P2RX1 P2rx1 ENSG00000108405 purinergic receptor P2X 1 chr17:3799886-3819794 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] BLEEDING DISORDER PLATELET-TYPE 8 Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. Neutrophil degranulation GO:0002554;serotonin secretion by platelet;IEA|GO:0003056;regulation of vascular smooth muscle contraction;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007320;insemination;IEA|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0010033;response to organic substance;IEA|GO:0019228;neuronal action potential;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0033198;response to ATP;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042310;vasoconstriction;IEA|GO:0043270;positive regulation of ion transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046513;ceramide biosynthetic process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031240;external side of cell outer membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA GO:0001614;purinergic nucleotide receptor activity;IDA|GO:0004931;extracellular ATP-gated cation channel activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/P2RX1 https://www.uniprot.org/uniprot/P51575 https://www.ncbi.nlm.nih.gov/omim/?term=600845 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX1&submit=Quick%0D%3709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX1 rs2074990 0.313498 0.2420 0.3349 1 0 0 intronic intronic intronic P2RX1 P2RX1 ENSG00000108405 Na Na Na Na Na Na Het;C>G 746;16|28 Het;C>G 176;16|9 Hom;C>G 860;0|30 N N - 17 3807044 3807044 T C snp intronic P2RX1 P2rx1 ENSG00000108405 purinergic receptor P2X 1 chr17:3799886-3819794 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] BLEEDING DISORDER PLATELET-TYPE 8 Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. Neutrophil degranulation GO:0002554;serotonin secretion by platelet;IEA|GO:0003056;regulation of vascular smooth muscle contraction;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007320;insemination;IEA|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0010033;response to organic substance;IEA|GO:0019228;neuronal action potential;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0033198;response to ATP;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042310;vasoconstriction;IEA|GO:0043270;positive regulation of ion transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046513;ceramide biosynthetic process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031240;external side of cell outer membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA GO:0001614;purinergic nucleotide receptor activity;IDA|GO:0004931;extracellular ATP-gated cation channel activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/P2RX1 https://www.uniprot.org/uniprot/P51575 https://www.ncbi.nlm.nih.gov/omim/?term=600845 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX1&submit=Quick%0D%3709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX1 rs740794 0.58107 0 0 1 0 0 intronic intronic intronic P2RX1 P2RX1 ENSG00000108405 Na Na Na Na Na Na Het;T>C 252;13|9 Het;T>C 231;7|9 Hom;T>C 437;0|14 N N - 17 3808497 3808497 A G snp intronic P2RX1 P2rx1 ENSG00000108405 purinergic receptor P2X 1 chr17:3799886-3819794 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] BLEEDING DISORDER PLATELET-TYPE 8 Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. Neutrophil degranulation GO:0002554;serotonin secretion by platelet;IEA|GO:0003056;regulation of vascular smooth muscle contraction;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007320;insemination;IEA|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0010033;response to organic substance;IEA|GO:0019228;neuronal action potential;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0033198;response to ATP;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042310;vasoconstriction;IEA|GO:0043270;positive regulation of ion transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046513;ceramide biosynthetic process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031240;external side of cell outer membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA GO:0001614;purinergic nucleotide receptor activity;IDA|GO:0004931;extracellular ATP-gated cation channel activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/P2RX1 https://www.uniprot.org/uniprot/P51575 https://www.ncbi.nlm.nih.gov/omim/?term=600845 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX1&submit=Quick%0D%3709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX1 rs12449598 0.360224 0.2590 0.3471 1 0 0 intronic intronic intronic P2RX1 P2RX1 ENSG00000108405 Na Na Na Na Na Na Het;A>G 1464;30|38 Het;A>G 1703;25|42 Hom;A>G 2138;1|50 N N - 17 3808498 3808498 A C snp intronic P2RX1 P2rx1 ENSG00000108405 purinergic receptor P2X 1 chr17:3799886-3819794 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] BLEEDING DISORDER PLATELET-TYPE 8 Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. Neutrophil degranulation GO:0002554;serotonin secretion by platelet;IEA|GO:0003056;regulation of vascular smooth muscle contraction;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007320;insemination;IEA|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0010033;response to organic substance;IEA|GO:0019228;neuronal action potential;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0033198;response to ATP;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042310;vasoconstriction;IEA|GO:0043270;positive regulation of ion transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046513;ceramide biosynthetic process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031240;external side of cell outer membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA GO:0001614;purinergic nucleotide receptor activity;IDA|GO:0004931;extracellular ATP-gated cation channel activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/P2RX1 https://www.uniprot.org/uniprot/P51575 https://www.ncbi.nlm.nih.gov/omim/?term=600845 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX1&submit=Quick%0D%3709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX1 rs12449599 0.360224 0.2576 0.3471 1 0 0 intronic intronic intronic P2RX1 P2RX1 ENSG00000108405 Na Na Na Na Na Na Het;A>C 1464;30|38 Het;A>C 1703;25|44 Hom;A>C 2138;1|50 N N - 17 3808713 3808713 T C snp intronic P2RX1 P2rx1 ENSG00000108405 purinergic receptor P2X 1 chr17:3799886-3819794 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] BLEEDING DISORDER PLATELET-TYPE 8 Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. Neutrophil degranulation GO:0002554;serotonin secretion by platelet;IEA|GO:0003056;regulation of vascular smooth muscle contraction;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007320;insemination;IEA|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0010033;response to organic substance;IEA|GO:0019228;neuronal action potential;IEA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030168;platelet activation;IEA|GO:0033198;response to ATP;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0042310;vasoconstriction;IEA|GO:0043270;positive regulation of ion transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0046513;ceramide biosynthetic process;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031240;external side of cell outer membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA GO:0001614;purinergic nucleotide receptor activity;IDA|GO:0004931;extracellular ATP-gated cation channel activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005261;cation channel activity;IDA|GO:0005524;ATP binding;IEA|GO:0008144;drug binding;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/P2RX1 https://www.uniprot.org/uniprot/P51575 https://www.ncbi.nlm.nih.gov/omim/?term=600845 http://www.informatics.jax.org/searchtool/Search.do?query=P2RX1&submit=Quick%0D%3709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX1 rs2074988 0.584864 0.4897 0.4762 1 0 0 intronic intronic intronic P2RX1 P2RX1 ENSG00000108405 Na Na Na Na Na Na Het;T>C 532;31|23 Het;T>C 271;25|14 Hom;T>C 1487;1|56 N N - 17 38129038 38129039 AG A indel intronic GSDMA Gsdma ENSG00000167914 gasdermin A chr17:38119226-38134019 Asthma; Leukocyte Count GO:0006915;apoptotic process;IDA|GO:0012501;programmed cell death;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/GSDMA https://www.ncbi.nlm.nih.gov/omim/?term=611218 http://www.informatics.jax.org/searchtool/Search.do?query=GSDMA&submit=Quick%0D%12143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSDMA rs61071906 0 0 0 1 0 0 intronic intronic intronic GSDMA GSDMA ENSG00000167914 Na Na Na Na Na Na Het;-G 41;3|3 Ref Hom;-G 185;0|7 N N - 17 38129050 38129050 T TTGGACAAGA indel intronic GSDMA Gsdma ENSG00000167914 gasdermin A chr17:38119226-38134019 Asthma; Leukocyte Count GO:0006915;apoptotic process;IDA|GO:0012501;programmed cell death;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/GSDMA https://www.ncbi.nlm.nih.gov/omim/?term=611218 http://www.informatics.jax.org/searchtool/Search.do?query=GSDMA&submit=Quick%0D%12143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSDMA rs149449702 0.767372 0 0 1 0 0 intronic intronic intronic GSDMA GSDMA ENSG00000167914 Na Na Na Na Na Na Het;+TGGACAAGA 83;2|3 Ref Hom;+TGGACAAGA 143;0|4 N N - 17 38177839 38177839 A C snp intronic MED24 Med24 ENSG00000008838 mediator complex subunit 24 chr17:38175350-38217468 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Homozygous mutant mice die prior to birth exhibiting abnormal heart development, neural tube defects, and anemia. Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0016567;protein ubiquitination;IEA|GO:0016573;histone acetylation;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;IDA|GO:0030521;androgen receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA GO:0000151;ubiquitin ligase complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016592;mediator complex;NAS GO:0001104;RNA polymerase II transcription cofactor activity;IDA|GO:0003712;transcription cofactor activity;IDA|GO:0003713;transcription coactivator activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0004872;receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;NAS|GO:0042809;vitamin D receptor binding;NAS|GO:0046966;thyroid hormone receptor binding;IDA|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MED24 https://www.uniprot.org/uniprot/O75448 https://www.ncbi.nlm.nih.gov/omim/?term=607000 http://www.informatics.jax.org/searchtool/Search.do?query=MED24&submit=Quick%0D%489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED24 rs12453732 0.408746 0 0 1 0 0 intronic intronic intronic MED24 MED24 ENSG00000008838 Na Na Na Na Na Na Het;A>C 91;1|4 Ref Hom;A>C 63;0|3 N N - 17 38950272 38950272 T C snp synonymous SNV A1005G T335T polar,hydrophilic,neutral polar,hydrophilic,neutral KRT28 Krt28 ENSG00000173908 keratin 28 chr17:38948455-38956211 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] Formation of the cornified envelope GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT28 https://www.ncbi.nlm.nih.gov/omim/?term=616677 http://www.informatics.jax.org/searchtool/Search.do?query=KRT28&submit=Quick%0D%13444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT28 rs2250671 0.618411 0.6462 0.5807 1 0 0 exonic exonic exonic KRT28 KRT28 ENSG00000173908 synonymous SNV synonymous SNV unknown KRT28:NM_181535:exon6:c.A1005G:p.T335T, KRT28:uc002hvh.1:exon6:c.A1005G:p.T335T, UNKNOWN Het;T>C 547;25|24 Het;T>C 270;7|13 Hom;T>C 948;0|36 N N - 17 39382942 39382942 C A snp synonymous SNV C36A T12T polar,hydrophilic,neutral polar,hydrophilic,neutral KRTAP9-2 ENSG00000263090 keratin associated protein 9-2 chr17:39382900-39383904 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRTAP9-2 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP9-2&submit=Quick%0D%20541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP9-2 rs11078986 0 0 0.4486 1 0 0 exonic exonic exonic KRTAP9-2 KRTAP9-2 ENSG00000239886 synonymous SNV synonymous SNV unknown KRTAP9-2:NM_031961:exon1:c.C36A:p.T12T, KRTAP9-2:uc002hwf.3:exon1:c.C36A:p.T12T, UNKNOWN Het;C>A 219;2|7 Het;C>A 113;3|5 Hom;C>A 215;0|8 N N - 17 39383012 39383012 C T snp nonsynonymous SNV C106T P36S hydrophobic,neutral polar,hydrophilic,neutral KRTAP9-2 ENSG00000263090 keratin associated protein 9-2 chr17:39382900-39383904 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRTAP9-2 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP9-2&submit=Quick%0D%20541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP9-2 rs9903833 0 0 0.5907 0.08 1 12 exonic exonic exonic KRTAP9-2 KRTAP9-2 ENSG00000239886 nonsynonymous SNV nonsynonymous SNV unknown KRTAP9-2:NM_031961:exon1:c.C106T:p.P36S, KRTAP9-2:uc002hwf.3:exon1:c.C106T:p.P36S, UNKNOWN Het;C>T 72;1|3 Het;C>T 69;1|3 Hom;C>T 110;0|5 N N - 17 39535859 39535859 A G snp nonsynonymous SNV T839C I280T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral KRT34 Krt34 ENSG00000262045 keratin 34 chr17:39533902-39538655 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] GO:0005882;intermediate filament;IEA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT34 https://www.ncbi.nlm.nih.gov/omim/?term=602763 http://www.informatics.jax.org/searchtool/Search.do?query=KRT34&submit=Quick%0D%20452ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT34 rs2239710 0.744609 0.7396 0.6983 0.18 2 11 exonic exonic exonic KRT34 KRT34 ENSG00000131737 nonsynonymous SNV nonsynonymous SNV unknown KRT34:NM_021013:exon4:c.T839C:p.I280T, KRT34:uc002hwm.3:exon4:c.T839C:p.I280T, UNKNOWN Het;A>G 612;32|27 Het;A>G 607;19|25 Hom;A>G 1553;0|56 N N - 17 39633317 39633317 A G snp synonymous SNV T1359C G453G aliphatic,neutral aliphatic,neutral KRT35 Krt35 ENSG00000197079 keratin 35 chr17:39632941-39637392 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] Exercise Test; Erythrocytes Formation of the cornified envelope GO:0009653;anatomical structure morphogenesis;TAS|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT35 https://www.ncbi.nlm.nih.gov/omim/?term=602764 http://www.informatics.jax.org/searchtool/Search.do?query=KRT35&submit=Quick%0D%16539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT35 rs2239711 0.73103 0.7242 0.7288 1 0 0 exonic exonic exonic KRT35 KRT35 ENSG00000197079 synonymous SNV synonymous SNV unknown KRT35:NM_002280:exon7:c.T1359C:p.G453G, KRT35:uc002hws.3:exon7:c.T1359C:p.G453G, UNKNOWN Het;A>G 1267;64|57 Het;A>G 1042;60|48 Hom;A>G 2803;0|99 N N - 17 39636044 39636044 G A snp intronic KRT35 Krt35 ENSG00000197079 keratin 35 chr17:39632941-39637392 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] Exercise Test; Erythrocytes Formation of the cornified envelope GO:0009653;anatomical structure morphogenesis;TAS|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRT35 https://www.ncbi.nlm.nih.gov/omim/?term=602764 http://www.informatics.jax.org/searchtool/Search.do?query=KRT35&submit=Quick%0D%16539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT35 rs2011243 0.949081 0.9228 0.9300 1 0 0 intronic intronic intronic KRT35 KRT35 ENSG00000197079 Na Na Na Na Na Na Het;G>A 774;38|36 Het;G>A 548;31|25 Hom;G>A 1778;0|68 N N - 17 39644057 39644057 G A snp intronic KRT36 Krt36 ENSG00000126337 keratin 36 chr17:39642388-39648798 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. Formation of the cornified envelope GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0045616;regulation of keratinocyte differentiation;IEA|GO:0070268;cornification;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045111;intermediate filament cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0030280;structural constituent of epidermis;NAS http://www.genecards.org/index.php?path=/Search/keyword/KRT36 https://www.uniprot.org/uniprot/O76013 https://www.ncbi.nlm.nih.gov/omim/?term=604540 http://www.informatics.jax.org/searchtool/Search.do?query=KRT36&submit=Quick%0D%5932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT36 rs2301353 0.766973 0 0 1 0 0 intronic intronic intronic KRT36 KRT36 ENSG00000126337 Na Na Na Na Na Na Het;G>A 150;7|7 Het;G>A 140;8|7 Hom;G>A 340;0|10 N N - 17 39646021 39646021 A G snp synonymous SNV T96C R32R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KRT36 Krt36 ENSG00000126337 keratin 36 chr17:39642388-39648798 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. Formation of the cornified envelope GO:0008150;biological_process;ND|GO:0031424;keratinization;TAS|GO:0045616;regulation of keratinocyte differentiation;IEA|GO:0070268;cornification;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045111;intermediate filament cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0030280;structural constituent of epidermis;NAS http://www.genecards.org/index.php?path=/Search/keyword/KRT36 https://www.uniprot.org/uniprot/O76013 https://www.ncbi.nlm.nih.gov/omim/?term=604540 http://www.informatics.jax.org/searchtool/Search.do?query=KRT36&submit=Quick%0D%5932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT36 rs1003842 0.767572 0.7311 0.7519 1 0 0 exonic exonic exonic KRT36 KRT36 ENSG00000126337 synonymous SNV synonymous SNV unknown KRT36:NM_003771:exon1:c.T96C:p.R32R, KRT36:uc002hwt.3:exon1:c.T96C:p.R32R, UNKNOWN Het;A>G 2230;122|95 Het;A>G 2107;109|95 Hom;A>G 4864;0|173 N N - 17 39657337 39657337 C A snp ncRNA_exonic AC019349.1 rs903 0.689696 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic KRT13(NM_002274:c.*259G>T,NM_153490:c.*171G>T) KRT13(uc002hwu.1:c.*171G>T,uc002hwv.1:c.*259G>T) ENSG00000229732 Na Na Na Na Na Na Het;C>A 1427;46|63 Het;C>A 1067;42|48 Hom;C>A 3114;0|117 N N - 17 39659183 39659183 G A snp intronic KRT13 Krt13 ENSG00000171401 keratin 13 chr17:39657233-39661957 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] WHITE SPONGE NEVUS 2 Formation of the cornified envelope GO:0007010;cytoskeleton organization;IDA|GO:0009314;response to radiation;IEA|GO:0031424;keratinization;TAS|GO:0043587;tongue morphogenesis;IEA|GO:0070268;cornification;TAS|GO:0071300;cellular response to retinoic acid;IEA GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT13 https://hpo.jax.org/app/browse/search?q=KRT13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148065 http://www.informatics.jax.org/searchtool/Search.do?query=KRT13&submit=Quick%0D%12912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT13 rs4796698 0.79992 0.8076 0.9060 1 0 0 intronic intronic intronic KRT13 KRT13 ENSG00000171401 Na Na Na Na Na Na Het;G>A 2219;46|85 Het;G>A 1361;36|56 Hom;G>A 4098;0|148 N N - 17 39659529 39659529 T C snp intronic KRT13 Krt13 ENSG00000171401 keratin 13 chr17:39657233-39661957 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] WHITE SPONGE NEVUS 2 Formation of the cornified envelope GO:0007010;cytoskeleton organization;IDA|GO:0009314;response to radiation;IEA|GO:0031424;keratinization;TAS|GO:0043587;tongue morphogenesis;IEA|GO:0070268;cornification;TAS|GO:0071300;cellular response to retinoic acid;IEA GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT13 https://hpo.jax.org/app/browse/search?q=KRT13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148065 http://www.informatics.jax.org/searchtool/Search.do?query=KRT13&submit=Quick%0D%12912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT13 rs7211835 0.821086 0.8335 0.9139 1 0 0 intronic intronic intronic KRT13 KRT13 ENSG00000171401 Na Na Na Na Na Na Het;T>C 715;49|30 Het;T>C 1069;27|38 Hom;T>C 1977;0|69 N N - 17 39659913 39659913 G A snp nonsynonymous SNV C239T A80V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KRT13 Krt13 ENSG00000171401 keratin 13 chr17:39657233-39661957 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] WHITE SPONGE NEVUS 2 Formation of the cornified envelope GO:0007010;cytoskeleton organization;IDA|GO:0009314;response to radiation;IEA|GO:0031424;keratinization;TAS|GO:0043587;tongue morphogenesis;IEA|GO:0070268;cornification;TAS|GO:0071300;cellular response to retinoic acid;IEA GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT13 https://hpo.jax.org/app/browse/search?q=KRT13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148065 http://www.informatics.jax.org/searchtool/Search.do?query=KRT13&submit=Quick%0D%12912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT13 rs9891361 0.705272 0.6951 0.8509 0.69 9 13 exonic exonic exonic KRT13 KRT13 ENSG00000171401 nonsynonymous SNV nonsynonymous SNV unknown KRT13:NM_002274:exon2:c.C560T:p.A187V,KRT13:NM_153490:exon2:c.C560T:p.A187V, KRT13:uc010wfr.2:exon3:c.C239T:p.A80V,KRT13:uc021txk.1:exon3:c.C239T:p.A80V,KRT13:uc002hwu.1:exon2:c.C560T:p.A187V,KRT13:uc002hwv.1:exon2:c.C560T:p.A187V,KRT13:uc010cxo.3:exon2:c.C560T:p.A187V, UNKNOWN Het;G>A 1319;32|59 Het;G>A 593;47|30 Hom;G>A 2385;0|85 N N - 17 39661689 39661689 G A snp synonymous SNV C114T S38S polar,hydrophilic,neutral polar,hydrophilic,neutral KRT13 Krt13 ENSG00000171401 keratin 13 chr17:39657233-39661957 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] WHITE SPONGE NEVUS 2 Formation of the cornified envelope GO:0007010;cytoskeleton organization;IDA|GO:0009314;response to radiation;IEA|GO:0031424;keratinization;TAS|GO:0043587;tongue morphogenesis;IEA|GO:0070268;cornification;TAS|GO:0071300;cellular response to retinoic acid;IEA GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT13 https://hpo.jax.org/app/browse/search?q=KRT13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148065 http://www.informatics.jax.org/searchtool/Search.do?query=KRT13&submit=Quick%0D%12912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT13 rs8182306 0.855032 0.8675 0.9248 1 0 0 exonic exonic exonic KRT13 KRT13 ENSG00000171401 synonymous SNV synonymous SNV unknown KRT13:NM_002274:exon1:c.C114T:p.S38S,KRT13:NM_153490:exon1:c.C114T:p.S38S, KRT13:uc002hwu.1:exon1:c.C114T:p.S38S,KRT13:uc002hwv.1:exon1:c.C114T:p.S38S,KRT13:uc010cxo.3:exon1:c.C114T:p.S38S, UNKNOWN Het;G>A 2557;155|125 Het;G>A 2379;148|116 Hom;G>A 8045;0|302 N N - 17 39662019 39662019 G A snp upstream KRT13 Krt13 ENSG00000171401 keratin 13 chr17:39657233-39661957 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] WHITE SPONGE NEVUS 2 Formation of the cornified envelope GO:0007010;cytoskeleton organization;IDA|GO:0009314;response to radiation;IEA|GO:0031424;keratinization;TAS|GO:0043587;tongue morphogenesis;IEA|GO:0070268;cornification;TAS|GO:0071300;cellular response to retinoic acid;IEA GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT13 https://hpo.jax.org/app/browse/search?q=KRT13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148065 http://www.informatics.jax.org/searchtool/Search.do?query=KRT13&submit=Quick%0D%12912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT13 rs8074539 0.855232 0 0 1 0 0 upstream upstream upstream KRT13 KRT13 ENSG00000171401 Na Na Na Na Na Na Het;G>A 114;4|4 Het;G>A 100;7|4 Hom;G>A 177;0|5 N N - 17 39706050 39706050 G C snp ncRNA_exonic LINC00974 rs11079001 0.65595 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00974 LOC147093 ENSG00000226629 Na Na Na Na Na Na Het;G>C 959;70|44 Het;G>C 1433;58|64 Hom;G>C 3171;0|109 N N - 17 39728050 39728050 G A snp synonymous SNV C195T G65G aliphatic,neutral aliphatic,neutral KRT9 ENSG00000171403 keratin 9 chr17:39722096-39728310 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008] PALMOPLANTAR KERATODERMA EPIDERMOLYTIC Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation. Formation of the cornified envelope GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS http://www.genecards.org/index.php?path=/Search/keyword/KRT9 https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607606 http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9 rs8070680 0.78095 0.6402 0.7292 1 0 0 exonic exonic exonic KRT9 KRT9 ENSG00000171403 synonymous SNV synonymous SNV unknown KRT9:NM_000226:exon1:c.C195T:p.G65G, KRT9:uc002hxe.4:exon1:c.C195T:p.G65G, UNKNOWN Het;G>A 1476;67|68 Het;G>A 1443;68|70 Hom;G>A 3810;0|144 N N - 17 39728343 39728343 C T snp upstream KRT9 ENSG00000171403 keratin 9 chr17:39722096-39728310 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008] PALMOPLANTAR KERATODERMA EPIDERMOLYTIC Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation. Formation of the cornified envelope GO:0007283;spermatogenesis;IEA|GO:0008544;epidermis development;TAS|GO:0031424;keratinization;TAS|GO:0043588;skin development;IDA|GO:0045109;intermediate filament organization;IMP|GO:0070268;cornification;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS http://www.genecards.org/index.php?path=/Search/keyword/KRT9 https://hpo.jax.org/app/browse/search?q=KRT9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607606 http://www.informatics.jax.org/searchtool/Search.do?query=KRT9&submit=Quick%0D%12914ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT9 rs8075857 0.666134 0 0 1 0 0 upstream intronic upstream KRT9 JUP ENSG00000171403 Na Na Na Na Na Na Het;C>T 463;37|20 Ref Hom;C>T 1282;0|46 N N - 17 39742492 39742492 G C snp intronic KRT14 Krt14 ENSG00000186847 keratin 14 chr17:39738531-39743173 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT14 https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148066 http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14 rs9915113 0.680711 0 0 1 0 0 intronic intronic intronic KRT14 JUP,KRT14 ENSG00000186847 Na Na Na Na Na Na Het;G>C 341;15|16 Ref Hom;G>C 688;0|24 N N - 17 39742718 39742718 A G snp synonymous SNV T369C N123N polar,hydrophilic,neutral polar,hydrophilic,neutral KRT14 Krt14 ENSG00000186847 keratin 14 chr17:39738531-39743173 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT14 https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148066 http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14 rs3826549 0.680511 0 0.6375 1 0 0 exonic exonic exonic KRT14 KRT14 ENSG00000186847 synonymous SNV synonymous SNV unknown KRT14:NM_000526:exon1:c.T369C:p.N123N, KRT14:uc002hxf.2:exon1:c.T369C:p.N123N, UNKNOWN Het;A>G 2611;109|116 Ref Hom;A>G 4512;3|171 N N - 17 39742894 39742894 G A snp synonymous SNV C193T L65L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KRT14 Krt14 ENSG00000186847 keratin 14 chr17:39738531-39743173 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT14 https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148066 http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14 rs3826551 0.680711 0.5179 0.5977 1 0 0 exonic exonic exonic KRT14 KRT14 ENSG00000186847 synonymous SNV synonymous SNV unknown KRT14:NM_000526:exon1:c.C193T:p.L65L, KRT14:uc002hxf.2:exon1:c.C193T:p.L65L, UNKNOWN Het;G>A 4074;96|107 Ref Hom;G>A 6674;1|152 N N - 17 39742898 39742898 G A snp synonymous SNV C189T C63C polar,hydrophobic,neutral polar,hydrophobic,neutral KRT14 Krt14 ENSG00000186847 keratin 14 chr17:39738531-39743173 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT14 https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148066 http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14 rs11551758 0.680711 0 0.5911 1 0 0 exonic exonic exonic KRT14 KRT14 ENSG00000186847 synonymous SNV synonymous SNV unknown KRT14:NM_000526:exon1:c.C189T:p.C63C, KRT14:uc002hxf.2:exon1:c.C189T:p.C63C, UNKNOWN Het;G>A 4132;98|107 Ref Hom;G>A 6740;1|154 N N - 17 39743081 39743081 G A snp synonymous SNV C6T T2T polar,hydrophilic,neutral polar,hydrophilic,neutral KRT14 Krt14 ENSG00000186847 keratin 14 chr17:39738531-39743173 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT14 https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148066 http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14 rs11551759 0.680511 0.5503 0.6715 1 0 0 exonic exonic exonic KRT14 KRT14 ENSG00000186847 synonymous SNV synonymous SNV unknown KRT14:NM_000526:exon1:c.C6T:p.T2T, KRT14:uc002hxf.2:exon1:c.C6T:p.T2T, UNKNOWN Het;G>A 1782;119|88 Ref Hom;G>A 6682;0|243 N N - 17 39743180 39743180 G A snp upstream KRT14 Krt14 ENSG00000186847 keratin 14 chr17:39738531-39743173 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. Formation of the cornified envelope GO:0007568;aging;IDA|GO:0008544;epidermis development;TAS|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0042633;hair cycle;IDA|GO:0045110;intermediate filament bundle assembly;IMP|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IDA|GO:0045178;basal part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:1990254;keratin filament binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT14 https://hpo.jax.org/app/browse/search?q=KRT14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148066 http://www.informatics.jax.org/searchtool/Search.do?query=KRT14&submit=Quick%0D%15721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT14 rs12942461 0.680711 0 0 1 0 0 upstream intronic upstream KRT14 JUP ENSG00000186847 Na Na Na Na Na Na Het;G>A 832;37|31 Ref Hom;G>A 2199;0|80 N N - 17 39765956 39765956 G A snp downstream KRT16 Krt16 ENSG00000186832 keratin 16 chr17:39766030-39772151 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1 Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. Formation of the cornified envelope GO:0002009;morphogenesis of an epithelium;IEA|GO:0006954;inflammatory response;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007568;aging;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0030216;keratinocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0045087;innate immune response;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0051546;keratinocyte migration;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0070268;cornification;TAS GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT16 https://hpo.jax.org/app/browse/search?q=KRT16&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148067 http://www.informatics.jax.org/searchtool/Search.do?query=KRT16&submit=Quick%0D%15717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT16 rs8075169 0.743211 0 0 1 0 0 downstream intronic downstream KRT16 JUP ENSG00000186832 Na Na Na Na Na Na Het;G>A 568;64|31 Ref Hom;G>A 1962;0|72 N N - 17 39767744 39767744 A G snp synonymous SNV T624C H208H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) KRT16 Krt16 ENSG00000186832 keratin 16 chr17:39766030-39772151 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1 Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. Formation of the cornified envelope GO:0002009;morphogenesis of an epithelium;IEA|GO:0006954;inflammatory response;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007568;aging;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0030216;keratinocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0045087;innate immune response;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0051546;keratinocyte migration;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0070268;cornification;TAS GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT16 https://hpo.jax.org/app/browse/search?q=KRT16&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148067 http://www.informatics.jax.org/searchtool/Search.do?query=KRT16&submit=Quick%0D%15717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT16 rs4796681 0.774161 0.6283 0.6833 1 0 0 exonic exonic exonic KRT16 KRT16 ENSG00000186832 synonymous SNV synonymous SNV unknown KRT16:NM_005557:exon3:c.T624C:p.H208H, KRT16:uc002hxg.4:exon3:c.T624C:p.H208H, UNKNOWN Het;A>G 3299;104|128 Ref Hom;A>G 6030;0|205 N N - 17 39767836 39767836 G A snp intronic KRT16 Krt16 ENSG00000186832 keratin 16 chr17:39766030-39772151 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1 Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. Formation of the cornified envelope GO:0002009;morphogenesis of an epithelium;IEA|GO:0006954;inflammatory response;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007568;aging;IDA|GO:0008283;cell proliferation;TAS|GO:0008544;epidermis development;TAS|GO:0030216;keratinocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031424;keratinization;TAS|GO:0042633;hair cycle;IDA|GO:0045087;innate immune response;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0051546;keratinocyte migration;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0070268;cornification;TAS GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005882;intermediate filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRT16 https://hpo.jax.org/app/browse/search?q=KRT16&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=148067 http://www.informatics.jax.org/searchtool/Search.do?query=KRT16&submit=Quick%0D%15717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT16 rs2100509 0.718051 0.5664 0 1 0 0 intronic intronic intronic KRT16 JUP,KRT16 ENSG00000186832 Na Na Na Na Na Na Het;G>A 1685;59|70 Ref Hom;G>A 3608;0|126 N N - 17 39785241 39785241 C G snp ncRNA_exonic KRT42P rs8076409 0.476637 0 0 1 0 0 ncRNA_intronic ncRNA_exonic ncRNA_exonic KRT42P KRT42P ENSG00000214514 Na Na Na Na Na Na Het;C>G 761;56|32 Het;C>G 1235;42|50 Hom;C>G 2108;0|74 N N - 17 39786865 39786865 G A snp ncRNA_exonic KRT42P rs7405662 0.466454 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KRT42P KRT42P ENSG00000214514 Na Na Na Na Na Na Het;G>A 330;12|16 Het;G>A 217;13|11 Hom;G>A 793;0|26 N N - 17 39791686 39791686 T C snp ncRNA_exonic KRT42P rs8070585 0.619609 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic KRT42P KRT42P ENSG00000214514 Na Na Na Na Na Na Het;T>C 478;25|21 Het;T>C 285;23|15 Hom;T>C 1147;0|42 N N - 17 39796553 39796553 A G snp upstream KRT42P rs12603338 0.520168 0 0 1 0 0 upstream intronic intronic KRT42P JUP ENSG00000173801 Na Na Na Na Na Na Het;A>G 371;11|12 Het;A>G 228;7|7 Hom;A>G 449;0|13 N N - 17 39890876 39890876 T C snp nonsynonymous SNV A11G K4R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) HAP1 Hap1 ENSG00000173805 huntingtin associated protein 1 chr17:39873994-39890896 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] atherosclerosis, coronary lipoprotein; Huntington Disease; Chronic progressive chorea|Huntington Disease Homozygous inactivation of this gene results in abnormal feeding and/or suckling behavior, absent gastric milk in neonates, slow postnatal weight gain, and postnatal death. Degeneration in hypothalamic regions that control feeding behavior has been observed. GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006914;autophagy;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007420;brain development;NAS|GO:0008089;anterograde axonal transport;ISS|GO:0008090;retrograde axonal transport;ISS|GO:0008104;protein localization;IMP|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;ISS|GO:0021549;cerebellum development;IEA|GO:0021979;hypothalamus cell differentiation;IEA|GO:0022008;neurogenesis;IEA|GO:0030030;cell projection organization;IEA|GO:0031587;positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0032230;positive regulation of synaptic transmission, GABAergic;ISS|GO:0032901;positive regulation of neurotrophin production;ISS|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;ISS|GO:0047496;vesicle transport along microtubule;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;ISS|GO:0050769;positive regulation of neurogenesis;IEA|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902513;regulation of organelle transport along microtubule;ISS|GO:1902857;positive regulation of non-motile cilium assembly;ISS|GO:2000766;negative regulation of cytoplasmic translation;IEA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005776;autophagosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0008021;synaptic vesicle;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016234;inclusion body;IDA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:1904115;axon cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;ISS|GO:0048403;brain-derived neurotrophic factor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/HAP1 https://www.ncbi.nlm.nih.gov/omim/?term=600947 http://www.informatics.jax.org/searchtool/Search.do?query=HAP1&submit=Quick%0D%13426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAP1 rs4796604 0.547125 0.3924 0.5886 0.08 1 12 exonic exonic exonic HAP1 HAP1 ENSG00000173805 nonsynonymous SNV nonsynonymous SNV unknown HAP1:NM_177977:exon1:c.A11G:p.K4R,HAP1:NM_001079871:exon1:c.A11G:p.K4R,HAP1:NM_001079870:exon1:c.A11G:p.K4R, HAP1:uc002hxp.1:exon1:c.A11G:p.K4R,HAP1:uc002hxm.1:exon1:c.A11G:p.K4R,HAP1:uc002hxo.1:exon1:c.A11G:p.K4R,HAP1:uc002hxn.1:exon1:c.A11G:p.K4R, UNKNOWN Het;T>C 473;19|24 Het;T>C 686;15|31 Hom;T>C 1078;0|39 N N - 17 39923614 39923614 A G snp intronic JUP Jup ENSG00000173801 junction plakoglobin chr17:39775692-39943183 This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008] Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. Formation of the cornified envelope GO:0002159;desmosome assembly;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;TAS|GO:0034333;adherens junction assembly;IEA|GO:0042127;regulation of cell proliferation;IDA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0050982;detection of mechanical stimulus;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0070268;cornification;TAS|GO:0071603;endothelial cell-cell adhesion;ISS|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090263;positive regulation of canonical Wnt signaling pathway;IC|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IMP|GO:0005829;cytosol;ISS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;ISS|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0014704;intercalated disc;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0016342;catenin complex;IEA|GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IDA|GO:0031012;extracellular matrix;IDA|GO:0032993;protein-DNA complex;IDA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071665;gamma-catenin-TCF7L2 complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003713;transcription coactivator activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005198;structural molecule activity;IEA|GO:0005199;structural constituent of cell wall;IC|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0045294;alpha-catenin binding;IEA|GO:0045296;cadherin binding;IEA|GO:0050839;cell adhesion molecule binding;IPI|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/JUP https://hpo.jax.org/app/browse/search?q=JUP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=173325 http://www.informatics.jax.org/searchtool/Search.do?query=JUP&submit=Quick%0D%13425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JUP rs12942034 0.744209 0.8343 0.7638 1 0 0 intronic intronic intronic JUP JUP ENSG00000173801 Na Na Na Na Na Na Het;A>G 1332;57|61 Het;A>G 1216;62|60 Hom;A>G 3190;0|110 N N - 17 39923960 39923960 T C snp intronic JUP Jup ENSG00000173801 junction plakoglobin chr17:39775692-39943183 This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008] Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. Formation of the cornified envelope GO:0002159;desmosome assembly;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;TAS|GO:0034333;adherens junction assembly;IEA|GO:0042127;regulation of cell proliferation;IDA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0050982;detection of mechanical stimulus;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0070268;cornification;TAS|GO:0071603;endothelial cell-cell adhesion;ISS|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090263;positive regulation of canonical Wnt signaling pathway;IC|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IMP|GO:0005829;cytosol;ISS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;ISS|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0014704;intercalated disc;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0016342;catenin complex;IEA|GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IDA|GO:0031012;extracellular matrix;IDA|GO:0032993;protein-DNA complex;IDA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071665;gamma-catenin-TCF7L2 complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003713;transcription coactivator activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005198;structural molecule activity;IEA|GO:0005199;structural constituent of cell wall;IC|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0045294;alpha-catenin binding;IEA|GO:0045296;cadherin binding;IEA|GO:0050839;cell adhesion molecule binding;IPI|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/JUP https://hpo.jax.org/app/browse/search?q=JUP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=173325 http://www.informatics.jax.org/searchtool/Search.do?query=JUP&submit=Quick%0D%13425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JUP rs9914693 0.69349 0 0 1 0 0 intronic intronic intronic JUP JUP ENSG00000173801 Na Na Na Na Na Na Het;T>C 76;8|4 Het;T>C 165;1|6 Hom;T>C 269;0|8 N N - 17 39925925 39925925 A G snp synonymous SNV T213C D71D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) JUP Jup ENSG00000173801 junction plakoglobin chr17:39775692-39943183 This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008] Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. Formation of the cornified envelope GO:0002159;desmosome assembly;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;NAS|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;TAS|GO:0034333;adherens junction assembly;IEA|GO:0042127;regulation of cell proliferation;IDA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0050982;detection of mechanical stimulus;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0070268;cornification;TAS|GO:0071603;endothelial cell-cell adhesion;ISS|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090263;positive regulation of canonical Wnt signaling pathway;IC|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IMP|GO:0005829;cytosol;ISS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;ISS|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0014704;intercalated disc;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016327;apicolateral plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0016342;catenin complex;IEA|GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IDA|GO:0031012;extracellular matrix;IDA|GO:0032993;protein-DNA complex;IDA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071665;gamma-catenin-TCF7L2 complex;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003713;transcription coactivator activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005198;structural molecule activity;IEA|GO:0005199;structural constituent of cell wall;IC|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0045294;alpha-catenin binding;IEA|GO:0045296;cadherin binding;IEA|GO:0050839;cell adhesion molecule binding;IPI|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/JUP https://hpo.jax.org/app/browse/search?q=JUP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=173325 http://www.informatics.jax.org/searchtool/Search.do?query=JUP&submit=Quick%0D%13425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JUP rs7405731 0.715655 0.7956 0.7364 1 0 0 exonic exonic exonic JUP JUP ENSG00000173801 synonymous SNV synonymous SNV unknown JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D, JUP:uc002hxr.2:exon3:c.T213C:p.D71D,JUP:uc002hxs.2:exon3:c.T213C:p.D71D,JUP:uc002hxq.2:exon3:c.T213C:p.D71D,JUP:uc010wfs.2:exon2:c.T213C:p.D71D, UNKNOWN Het;A>G 896;46|39 Het;A>G 1169;37|49 Hom;A>G 2744;0|99 N N - 17 40466092 40466092 G A snp ncRNA_exonic AK024535 rs1053004 0.44988 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 STAT3(NM_003150:c.*1671C>T,NM_213662:c.*1765C>T,NM_139276:c.*1671C>T) AK024535 ENSG00000168610(ENST00000264657:c.*1671C>T) Na Na Na Na Na Na Het;G>A 879;44|39 Ref Hom;G>A 1983;0|75 N N - 17 41283397 41283400 AAAT A indel ncRNA_intronic NBR2 rs141325957 0.355431 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBR2 NBR2 ENSG00000198496 Na Na Na Na Na Na Het;-AAT 206;3|6 Het;-AAT 122;3|4 Hom;-AAT 188;0|5 N N - 17 41346283 41346283 G A snp intronic NBR1 Nbr1 ENSG00000188554 NBR1, autophagy cargo receptor chr17:41322498-41363708 The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Tobacco Use Disorder Homozygous mice of the genetic truncation allele had an age-dependent increase in bone mass and bone mineral density. Mice homozygous for a floxed allele activated in T cells exhibit decreased ovalbumin-induced inflammation and defective Th2 polarization. GO:0016236;macroautophagy;IDA|GO:0030500;regulation of bone mineralization;ISS|GO:0032872;regulation of stress-activated MAPK cascade;ISS|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0051259;protein oligomerization;IDA GO:0000407;pre-autophagosomal structure;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005764;lysosome;IEA|GO:0005770;late endosome;ISS|GO:0005776;autophagosome;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031430;M band;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NBR1 https://www.ncbi.nlm.nih.gov/omim/?term=166945 http://www.informatics.jax.org/searchtool/Search.do?query=NBR1&submit=Quick%0D%16054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBR1 rs4793217 0.336262 0 0 1 0 0 intronic intronic intronic NBR1 NBR1 ENSG00000188554 Na Na Na Na Na Na Het;G>A 171;4|6 Het;G>A 218;3|7 Hom;G>A 254;0|8 N N - 17 41353919 41353919 A G snp intronic NBR1 Nbr1 ENSG00000188554 NBR1, autophagy cargo receptor chr17:41322498-41363708 The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Tobacco Use Disorder Homozygous mice of the genetic truncation allele had an age-dependent increase in bone mass and bone mineral density. Mice homozygous for a floxed allele activated in T cells exhibit decreased ovalbumin-induced inflammation and defective Th2 polarization. GO:0016236;macroautophagy;IDA|GO:0030500;regulation of bone mineralization;ISS|GO:0032872;regulation of stress-activated MAPK cascade;ISS|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0051259;protein oligomerization;IDA GO:0000407;pre-autophagosomal structure;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005764;lysosome;IEA|GO:0005770;late endosome;ISS|GO:0005776;autophagosome;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031430;M band;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NBR1 https://www.ncbi.nlm.nih.gov/omim/?term=166945 http://www.informatics.jax.org/searchtool/Search.do?query=NBR1&submit=Quick%0D%16054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBR1 rs36107656 0.401158 0 0 1 0 0 intronic intronic intronic NBR1 NBR1 ENSG00000188554 Na Na Na Na Na Na Het;A>G 44;1|2 Ref Hom;A>G 55;0|2 N N - 17 41400015 41400015 C A snp intergenic LINC00854 ENSG00000236383 chr17:41368960-41383338 http://www.genecards.org/index.php?path=/Search/keyword/LINC00854 http://www.informatics.jax.org/searchtool/Search.do?query=LINC00854&submit=Quick%0D%19415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LINC00854 rs1906346 0 0 0 1 0 0 intergenic intergenic intergenic LINC00854(dist=18953),LINC00910(dist=47198) AK027091(dist=17439),LINC00910(dist=47198) ENSG00000236383(dist=16677),ENSG00000188825(dist=47198) Na Na Na Na Na Na Het;C>A 242;3|11 Ref Hom;C>A 216;1|6 N N - 17 41466605 41466624 CGACACACGCAATCAGAGAG C indel upstream LINC00910 Na 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;-GACACACGCAATCAGAGAG 378;2|10 Het;-GACACACGCAATCAGAGAG 86;1|3 Hom;-GACACACGCAATCAGAGAG 413;0|10 N N - 17 41466652 41466652 G C snp upstream LINC00910 rs117181798 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;G>C 512;2|13 Het;G>C 179;1|5 Hom;G>C 557;0|13 N N - 17 41466655 41466655 A G snp upstream LINC00910 rs751925472 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;A>G 554;2|14 Het;A>G 179;1|5 Hom;A>G 602;0|14 N N - 17 41466658 41466658 C G snp upstream LINC00910 rs764373083 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;C>G 554;2|13 Het;C>G 179;1|5 Hom;C>G 691;0|14 N N - 17 41466660 41466660 T A snp upstream LINC00910 rs796158860 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;T>A 512;2|13 Het;T>A 200;1|5 Hom;T>A 646;0|15 N N - 17 41466661 41466661 G A snp upstream LINC00910 rs796740734 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;G>A 512;2|13 Het;G>A 200;1|6 Hom;G>A 646;0|15 N N - 17 41466672 41466672 A G snp upstream LINC00910 rs80175742 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;A>G 393;2|16 Het;A>G 172;1|8 Hom;A>G 509;0|16 N N - 17 41466694 41466694 A C snp upstream LINC00910 rs74502099 0 0 0 1 0 0 upstream upstream upstream LINC00910 LINC00910 ENSG00000188825 Na Na Na Na Na Na Het;A>C 556;0|14 Het;A>C 431;1|11 Hom;A>C 872;0|20 N N - 17 41982012 41982012 G A snp intronic MPP2 Mpp2 ENSG00000108852 membrane palmitoylated protein 2 chr17:41952725-41987068 Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008] GO:0007165;signal transduction;TAS|GO:0046037;GMP metabolic process;IEA|GO:0046710;GDP metabolic process;IEA|GO:0051260;protein homooligomerization;ISS|GO:0060079;excitatory postsynaptic potential;ISS|GO:0060291;long-term synaptic potentiation;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;TAS|GO:0030425;dendrite;IEA|GO:0032590;dendrite membrane;ISS|GO:0032591;dendritic spine membrane;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;ISS|GO:0043198;dendritic shaft;ISS GO:0004385;guanylate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IEA|GO:0044325;ion channel binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MPP2 https://www.uniprot.org/uniprot/Q14168 https://www.ncbi.nlm.nih.gov/omim/?term=600723 http://www.informatics.jax.org/searchtool/Search.do?query=MPP2&submit=Quick%0D%3786ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPP2 rs231485 0.544329 0 0 1 0 0 intronic intronic intronic MPP2 MPP2 ENSG00000108852 Na Na Na Na Na Na Het;G>A 107;3|4 Ref Hom;G>A 283;0|8 N N - 17 41994794 41994794 C T snp nonsynonymous SNV C116T T39M polar,hydrophilic,neutral hydrophobic,neutral FAM215A rs231458 0.588259 0 0.5235 0.60 3 5 ncRNA_exonic exonic exonic FAM215A FAM215A ENSG00000267496 Na nonsynonymous SNV unknown Na FAM215A:uc010wiq.1:exon1:c.C116T:p.T39M, UNKNOWN Het;C>T 4162;162|183 Het;C>T 4129;184|194 Hom;C>T 9107;0|325 N N - 17 41996733 41996733 G T snp ncRNA_intronic AC007993.1 rs231457 0.588259 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAM215A(dist=1378),PPY(dist=21439) FAM215A(dist=1378),DQ592711(dist=5787) ENSG00000267166 Na Na Na Na Na Na Het;G>T 1725;50|72 Het;G>T 1442;59|61 Hom;G>T 3564;2|126 N N - 17 41998863 41998863 A C snp ncRNA_intronic AC007993.1 rs231454 0.592252 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAM215A(dist=3508),PPY(dist=19309) FAM215A(dist=3508),DQ592711(dist=3657) ENSG00000267166 Na Na Na Na Na Na Het;A>C 547;36|24 Het;A>C 329;32|17 Hom;A>C 1475;0|51 N N - 17 42001888 42001888 A C snp downstream DQ592711 rs231453 0.579673 0 0 1 0 0 intergenic downstream intergenic FAM215A(dist=6533),PPY(dist=16284) DQ592711 ENSG00000267166(dist=1519),ENSG00000267420(dist=3043) Na Na Na Na Na Na Het;A>C 292;22|13 Het;A>C 443;11|20 Hom;A>C 1060;0|34 N N - 17 42002022 42002022 G A snp downstream DQ592711 rs231452 0.5627 0 0 1 0 0 intergenic downstream intergenic FAM215A(dist=6667),PPY(dist=16150) DQ592711 ENSG00000267166(dist=1653),ENSG00000267420(dist=2909) Na Na Na Na Na Na Het;G>A 222;14|8 Het;G>A 140;5|6 Hom;G>A 269;0|9 N N - 17 42016477 42016477 T G snp downstream LINC01976 rs231474 0.666334 0 0 1 0 0 intergenic intergenic downstream FAM215A(dist=21122),PPY(dist=1695) DQ592711(dist=13930),PPY(dist=1695) ENSG00000261514 Na Na Na Na Na Na Het;T>G 280;4|9 Het;T>G 120;5|5 Hom;T>G 107;0|4 N N - 17 42018471 42018471 T C snp intronic PPY Ppy ENSG00000108849 pancreatic polypeptide chr17:42018172-42019836 This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] diabetes, type 2; obesity Mice homozygous for a null allele exhibit normal body weight, food intake and bone density. G alpha (i) signalling events GO:0007218;neuropeptide signaling pathway;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007586;digestion;TAS|GO:0007631;feeding behavior;IBA|GO:0009306;protein secretion;TAS|GO:0032098;regulation of appetite;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA GO:0001664;G-protein coupled receptor binding;IBA|GO:0005102;receptor binding;TAS|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPY https://www.uniprot.org/uniprot/P01298 https://www.ncbi.nlm.nih.gov/omim/?term=167780 http://www.informatics.jax.org/searchtool/Search.do?query=PPY&submit=Quick%0D%3785ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPY rs231473 0.671725 0.5537 0.6154 1 0 0 intronic intronic intronic PPY PPY ENSG00000108849 Na Na Na Na Na Na Het;T>C 1484;71|66 Het;T>C 1498;67|64 Hom;T>C 3923;0|136 N N - 17 42019494 42019494 C T snp intronic PPY Ppy ENSG00000108849 pancreatic polypeptide chr17:42018172-42019836 This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] diabetes, type 2; obesity Mice homozygous for a null allele exhibit normal body weight, food intake and bone density. G alpha (i) signalling events GO:0007218;neuropeptide signaling pathway;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007586;digestion;TAS|GO:0007631;feeding behavior;IBA|GO:0009306;protein secretion;TAS|GO:0032098;regulation of appetite;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA GO:0001664;G-protein coupled receptor binding;IBA|GO:0005102;receptor binding;TAS|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPY https://www.uniprot.org/uniprot/P01298 https://www.ncbi.nlm.nih.gov/omim/?term=167780 http://www.informatics.jax.org/searchtool/Search.do?query=PPY&submit=Quick%0D%3785ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPY rs231471 0.72504 0 0 1 0 0 intronic intronic intronic PPY PPY ENSG00000108849 Na Na Na Na Na Na Het;C>T 1125;63|50 Het;C>T 798;55|38 Hom;C>T 2636;0|102 N N - 17 42114672 42114672 T C snp intronic LSM12 Lsm12 ENSG00000161654 LSM12 homolog chr17:42112003-42144987 http://www.genecards.org/index.php?path=/Search/keyword/LSM12 https://www.ncbi.nlm.nih.gov/omim/?term=611793 http://www.informatics.jax.org/searchtool/Search.do?query=LSM12&submit=Quick%0D%10598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM12 rs2285750 0.34365 0 0 1 0 0 intronic intronic intronic LSM12 LSM12 ENSG00000161654 Na Na Na Na Na Na Het;T>C 216;3|7 Het;T>C 140;7|5 Hom;T>C 499;0|14 N N - 17 42430244 42430244 C T snp UTR3 *78C>T GRN Grn ENSG00000030582 granulin precursor chr17:42422614-42430470 Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008] Frontotemporal Dementia; Dementia|Supranuclear Palsy, Progressive; Alzheimer Disease|Dementia|; ALS/amyotrophic lateral sclerosis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Memory Disorders|Neurodegenerative Diseases; Alzheimer Disease|Alzheimer's Disease|Sclerosis; Alzheimer Disease|Dementia; frontotemporal lobar degeneration; frontal lobe disorder; Dementia; null; Frontotemporal Lobar Degeneration; Aphasia|Dementia|Motor Neuron Disease|Neurodegenerative Diseases; Alzheimer Disease|Dementia|Neurodegenerative Diseases; Amyotrophic Lateral Sclerosis|Dementia; Frontotemporal dementia|Movement Disorders|Progressive supranuclear palsy|Supranuclear Palsy, Progressive; dementia, frontotemporal; Parkinson's disease Mice homozygous for some knock-out alleles display enhanced macrophage functions. Mice homozygous for another knock-out allele display reproductive and behavioral abnormalities. Mice homozygous for a third null allele display premature death and increased cellular aging. Neutrophil degranulation GO:0007165;signal transduction;NAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GRN https://www.uniprot.org/uniprot/P28799 https://hpo.jax.org/app/browse/search?q=GRN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138945 http://www.informatics.jax.org/searchtool/Search.do?query=GRN&submit=Quick%0D%740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRN rs5848 0.424521 0 0 1 0 0 UTR3 UTR3 UTR3 GRN(NM_002087:c.*78C>T) GRN(uc002igp.1:c.*78C>T) ENSG00000030582(ENST00000053867:c.*78C>T,ENST00000589265:c.*78C>T,ENST00000586443:c.*224C>T,ENST00000586242:c.*107C>T) Na Na Na Na Na Na Het;C>T 1437;74|57 Het;C>T 878;49|38 Hom;C>T 1903;0|70 N N - 17 42449789 42449789 G A snp synonymous SNV C3063T V1021V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ITGA2B Itga2b ENSG00000005961 integrin subunit alpha 2b chr17:42449548-42466873 This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] coronary artery disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; deletion-insertion and alternative splicing; retinal vascular occlusion; vaso-occlusive crisis; Alzheimer's disease ; brain hemorrhage; retinopathy, diabetic; Glanzmann thrombasthenia; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; myocardial infarct; coronary artery stent thrombosis; myocardial infarct; lymphoproliferative disorders; restenosis; stroke; Apoplexy|Recurrence|Stroke; Coronary Disease|Coronary heart disease; thrombocytopenia; Brain Ischemia|Recurrence|Stroke; myocardial infarct; atherosclerosis, coronary; thrombus formation, arterial; Pre-Eclampsia; hematology indices; Buerger's disease; coronary artery disease; myocardial infarction; Thrombosis; myocardial infarction; stroke; Brain Ischemia|Stroke; lymphoproliferative disorders; blood transfusion complications; systemic lupus erythematosus; pregnancy loss, recurrent; fetal loss; cerebrovascular disease; sickle cell anemia; stroke, ischemic; nephropathy; blood transfusion complications; normal variation; acute coronary syndrome; atherosclerosis, coronary; ischemia; myocardial infarction; stroke; revascularization, urgent; intima-media thickness; myocardial injury; myocardial infarction; stroke, ischemic; Type 2 Diabetes| edema | rosiglitazone; coronary heart disease; null; Thrombocytopenia; myocardial infarction; Vascular Diseases; Coronary Disease; metabolism disorders; myocardial infarction; stroke, ischemic; diabetes, type 2 Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0002576;platelet degranulation;TAS|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0070527;platelet aggregation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031092;platelet alpha granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA|GO:0070051;fibrinogen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGA2B https://www.uniprot.org/uniprot/P08514 https://hpo.jax.org/app/browse/search?q=ITGA2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607759 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2B&submit=Quick%0D%379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2B rs5910 0.397364 0.3824 0.3869 1 0 0 exonic exonic exonic ITGA2B ITGA2B ENSG00000005961 synonymous SNV synonymous SNV unknown ITGA2B:NM_000419:exon30:c.C3063T:p.V1021V, ITGA2B:uc002igt.1:exon30:c.C3063T:p.V1021V, UNKNOWN Het;G>A 1387;46|65 Het;G>A 1225;45|57 Hom;G>A 2036;0|78 N N - 17 42453065 42453065 A C snp nonsynonymous SNV T1064G I355S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ITGA2B Itga2b ENSG00000005961 integrin subunit alpha 2b chr17:42449548-42466873 This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] coronary artery disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; deletion-insertion and alternative splicing; retinal vascular occlusion; vaso-occlusive crisis; Alzheimer's disease ; brain hemorrhage; retinopathy, diabetic; Glanzmann thrombasthenia; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; myocardial infarct; coronary artery stent thrombosis; myocardial infarct; lymphoproliferative disorders; restenosis; stroke; Apoplexy|Recurrence|Stroke; Coronary Disease|Coronary heart disease; thrombocytopenia; Brain Ischemia|Recurrence|Stroke; myocardial infarct; atherosclerosis, coronary; thrombus formation, arterial; Pre-Eclampsia; hematology indices; Buerger's disease; coronary artery disease; myocardial infarction; Thrombosis; myocardial infarction; stroke; Brain Ischemia|Stroke; lymphoproliferative disorders; blood transfusion complications; systemic lupus erythematosus; pregnancy loss, recurrent; fetal loss; cerebrovascular disease; sickle cell anemia; stroke, ischemic; nephropathy; blood transfusion complications; normal variation; acute coronary syndrome; atherosclerosis, coronary; ischemia; myocardial infarction; stroke; revascularization, urgent; intima-media thickness; myocardial injury; myocardial infarction; stroke, ischemic; Type 2 Diabetes| edema | rosiglitazone; coronary heart disease; null; Thrombocytopenia; myocardial infarction; Vascular Diseases; Coronary Disease; metabolism disorders; myocardial infarction; stroke, ischemic; diabetes, type 2 Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0002576;platelet degranulation;TAS|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0070527;platelet aggregation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031092;platelet alpha granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA|GO:0070051;fibrinogen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGA2B https://www.uniprot.org/uniprot/P08514 https://hpo.jax.org/app/browse/search?q=ITGA2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607759 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2B&submit=Quick%0D%379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2B rs5911 0.400359 0.3796 0.4359 0.17 2 12 exonic exonic exonic ITGA2B ITGA2B ENSG00000005961 nonsynonymous SNV nonsynonymous SNV unknown ITGA2B:NM_000419:exon26:c.T2621G:p.I874S, ITGA2B:uc002igu.1:exon14:c.T1064G:p.I355S,ITGA2B:uc002igt.1:exon26:c.T2621G:p.I874S, UNKNOWN Het;A>C 1620;69|69 Het;A>C 1201;61|56 Hom;A>C 3080;0|111 N N - 17 42454270 42454270 T C snp intronic ITGA2B Itga2b ENSG00000005961 integrin subunit alpha 2b chr17:42449548-42466873 This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] coronary artery disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; deletion-insertion and alternative splicing; retinal vascular occlusion; vaso-occlusive crisis; Alzheimer's disease ; brain hemorrhage; retinopathy, diabetic; Glanzmann thrombasthenia; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; myocardial infarct; coronary artery stent thrombosis; myocardial infarct; lymphoproliferative disorders; restenosis; stroke; Apoplexy|Recurrence|Stroke; Coronary Disease|Coronary heart disease; thrombocytopenia; Brain Ischemia|Recurrence|Stroke; myocardial infarct; atherosclerosis, coronary; thrombus formation, arterial; Pre-Eclampsia; hematology indices; Buerger's disease; coronary artery disease; myocardial infarction; Thrombosis; myocardial infarction; stroke; Brain Ischemia|Stroke; lymphoproliferative disorders; blood transfusion complications; systemic lupus erythematosus; pregnancy loss, recurrent; fetal loss; cerebrovascular disease; sickle cell anemia; stroke, ischemic; nephropathy; blood transfusion complications; normal variation; acute coronary syndrome; atherosclerosis, coronary; ischemia; myocardial infarction; stroke; revascularization, urgent; intima-media thickness; myocardial injury; myocardial infarction; stroke, ischemic; Type 2 Diabetes| edema | rosiglitazone; coronary heart disease; null; Thrombocytopenia; myocardial infarction; Vascular Diseases; Coronary Disease; metabolism disorders; myocardial infarction; stroke, ischemic; diabetes, type 2 Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0002576;platelet degranulation;TAS|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0070527;platelet aggregation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031092;platelet alpha granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA|GO:0070051;fibrinogen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGA2B https://www.uniprot.org/uniprot/P08514 https://hpo.jax.org/app/browse/search?q=ITGA2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607759 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2B&submit=Quick%0D%379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2B rs850731 0.52496 0 0 1 0 0 intronic intronic intronic ITGA2B ITGA2B ENSG00000005961 Na Na Na Na Na Na Het;T>C 57;11|4 Het;T>C 341;2|11 Hom;T>C 460;0|15 N N - 17 42454463 42454463 G C snp intronic ITGA2B Itga2b ENSG00000005961 integrin subunit alpha 2b chr17:42449548-42466873 This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] coronary artery disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; deletion-insertion and alternative splicing; retinal vascular occlusion; vaso-occlusive crisis; Alzheimer's disease ; brain hemorrhage; retinopathy, diabetic; Glanzmann thrombasthenia; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; myocardial infarct; coronary artery stent thrombosis; myocardial infarct; lymphoproliferative disorders; restenosis; stroke; Apoplexy|Recurrence|Stroke; Coronary Disease|Coronary heart disease; thrombocytopenia; Brain Ischemia|Recurrence|Stroke; myocardial infarct; atherosclerosis, coronary; thrombus formation, arterial; Pre-Eclampsia; hematology indices; Buerger's disease; coronary artery disease; myocardial infarction; Thrombosis; myocardial infarction; stroke; Brain Ischemia|Stroke; lymphoproliferative disorders; blood transfusion complications; systemic lupus erythematosus; pregnancy loss, recurrent; fetal loss; cerebrovascular disease; sickle cell anemia; stroke, ischemic; nephropathy; blood transfusion complications; normal variation; acute coronary syndrome; atherosclerosis, coronary; ischemia; myocardial infarction; stroke; revascularization, urgent; intima-media thickness; myocardial injury; myocardial infarction; stroke, ischemic; Type 2 Diabetes| edema | rosiglitazone; coronary heart disease; null; Thrombocytopenia; myocardial infarction; Vascular Diseases; Coronary Disease; metabolism disorders; myocardial infarction; stroke, ischemic; diabetes, type 2 Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0002576;platelet degranulation;TAS|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0070527;platelet aggregation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031092;platelet alpha granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA|GO:0070051;fibrinogen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGA2B https://www.uniprot.org/uniprot/P08514 https://hpo.jax.org/app/browse/search?q=ITGA2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607759 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2B&submit=Quick%0D%379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2B rs850730 0.397364 0.3779 0.4255 1 0 0 intronic intronic intronic ITGA2B ITGA2B ENSG00000005961 Na Na Na Na Na Na Het;G>C 404;27|21 Het;G>C 1028;25|39 Hom;G>C 1505;0|56 N N - 17 42455022 42455031 TGAGCCCCTG T indel intronic ITGA2B Itga2b ENSG00000005961 integrin subunit alpha 2b chr17:42449548-42466873 This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] coronary artery disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; deletion-insertion and alternative splicing; retinal vascular occlusion; vaso-occlusive crisis; Alzheimer's disease ; brain hemorrhage; retinopathy, diabetic; Glanzmann thrombasthenia; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; myocardial infarct; coronary artery stent thrombosis; myocardial infarct; lymphoproliferative disorders; restenosis; stroke; Apoplexy|Recurrence|Stroke; Coronary Disease|Coronary heart disease; thrombocytopenia; Brain Ischemia|Recurrence|Stroke; myocardial infarct; atherosclerosis, coronary; thrombus formation, arterial; Pre-Eclampsia; hematology indices; Buerger's disease; coronary artery disease; myocardial infarction; Thrombosis; myocardial infarction; stroke; Brain Ischemia|Stroke; lymphoproliferative disorders; blood transfusion complications; systemic lupus erythematosus; pregnancy loss, recurrent; fetal loss; cerebrovascular disease; sickle cell anemia; stroke, ischemic; nephropathy; blood transfusion complications; normal variation; acute coronary syndrome; atherosclerosis, coronary; ischemia; myocardial infarction; stroke; revascularization, urgent; intima-media thickness; myocardial injury; myocardial infarction; stroke, ischemic; Type 2 Diabetes| edema | rosiglitazone; coronary heart disease; null; Thrombocytopenia; myocardial infarction; Vascular Diseases; Coronary Disease; metabolism disorders; myocardial infarction; stroke, ischemic; diabetes, type 2 Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0002576;platelet degranulation;TAS|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0070527;platelet aggregation;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0008305;integrin complex;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031092;platelet alpha granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;IEA|GO:0070051;fibrinogen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGA2B https://www.uniprot.org/uniprot/P08514 https://hpo.jax.org/app/browse/search?q=ITGA2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607759 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2B&submit=Quick%0D%379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2B rs25552 0.394169 0.0015 0.3824 1 0 0 intronic intronic intronic ITGA2B ITGA2B ENSG00000005961 Na Na Na Na Na Na Het;-GAGCCCCTG 969;22|26 Het;-GAGCCCCTG 506;15|14 Hom;-GAGCCCCTG 1270;0|29 N N - 17 42680402 42680402 A G snp intergenic FZD2 Fzd2 ENSG00000180340 frizzled class receptor 2 chr17:42634925-42636907 This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010] Bipolar Disorder; Cleft Lip|Cleft Palate About 50% of mice homozygous for a reporter allele display a cleft palate and die as neonates; the remaining 50% survive exhibiting a variable degree of postnatal runting and reduced olfactory sensitivity to various odorants. WNT5A-dependent internalization of FZD2, FZD5 and ROR2 GO:0003149;membranous septum morphogenesis;IEA|GO:0003150;muscular septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0007267;cell-cell signaling;IEA|GO:0007275;multicellular organism development;IEA|GO:0007608;sensory perception of smell;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030182;neuron differentiation;ISS|GO:0030825;positive regulation of cGMP metabolic process;IMP|GO:0030855;epithelial cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0060022;hard palate development;IEA|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060119;inner ear receptor cell development;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0090103;cochlea morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;NAS|GO:0030165;PDZ domain binding;IPI|GO:0042813;Wnt-activated receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/FZD2 https://hpo.jax.org/app/browse/search?q=FZD2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600667 http://www.informatics.jax.org/searchtool/Search.do?query=FZD2&submit=Quick%0D%14465ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FZD2 rs9904409 0.798722 0 0 1 0 0 intergenic intergenic intergenic FZD2(dist=41772),LINC01180(dist=43330) FZD2(dist=41772),C17orf104(dist=53360) ENSG00000271222(dist=5690),ENSG00000267384(dist=42377) Na Na Na Na Na Na Het;A>G 65;4|3 Ref Hom;A>G 134;0|4 N N - 17 42751607 42751607 C T snp ncRNA_exonic AC091152.2 rs6416902 0.867013 0.8883 0.8980 1 0 0 UTR3 UTR3 ncRNA_exonic C17orf104(NM_001145080:c.*43C>T) C17orf104(uc002iha.3:c.*43C>T) ENSG00000267160 Na Na Na Na Na Na Het;C>T 461;21|17 Het;C>T 173;21|9 Hom;C>T 992;0|36 N N - 17 42927965 42927965 G A snp UTR3 *677C>T EFTUD2 Eftud2 ENSG00000108883 elongation factor Tu GTP binding domain containing 2 chr17:42927311-42977030 This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Tobacco Use Disorder Homozygous mice lacking exon 2 die before implantation while heterozygous mice show a transient developmental delay between E8.5-E9.5. mRNA Splicing - Minor Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;TAS|GO:0008380;RNA splicing;TAS|GO:0035690;cellular response to drug;IEA|GO:0042220;response to cocaine;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFTUD2 https://www.uniprot.org/uniprot/Q15029 https://hpo.jax.org/app/browse/search?q=EFTUD2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603892 http://www.informatics.jax.org/searchtool/Search.do?query=EFTUD2&submit=Quick%0D%3790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFTUD2 rs2304987 0.226637 0 0 1 0 0 UTR3 UTR3 UTR3 EFTUD2(NM_001258353:c.*677C>T,NM_001258354:c.*677C>T,NM_001142605:c.*677C>T,NM_004247:c.*677C>T) EFTUD2(uc031rav.1:c.*677C>T,uc010wjf.1:c.*677C>T,uc002ihn.2:c.*677C>T,uc010wje.1:c.*677C>T) ENSG00000108883(ENST00000426333:c.*677C>T) Na Na Na Na Na Na Het;G>A 285;15|11 Het;G>A 234;8|12 Hom;G>A 406;0|14 N N - 17 42961009 42961009 C T snp intronic EFTUD2 Eftud2 ENSG00000108883 elongation factor Tu GTP binding domain containing 2 chr17:42927311-42977030 This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Tobacco Use Disorder Homozygous mice lacking exon 2 die before implantation while heterozygous mice show a transient developmental delay between E8.5-E9.5. mRNA Splicing - Minor Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;TAS|GO:0008380;RNA splicing;TAS|GO:0035690;cellular response to drug;IEA|GO:0042220;response to cocaine;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFTUD2 https://www.uniprot.org/uniprot/Q15029 https://hpo.jax.org/app/browse/search?q=EFTUD2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603892 http://www.informatics.jax.org/searchtool/Search.do?query=EFTUD2&submit=Quick%0D%3790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFTUD2 rs2289677 0.560503 0.6431 0.5693 1 0 0 intronic intronic intronic EFTUD2 EFTUD2 ENSG00000108883 Na Na Na Na Na Na Het;C>T 533;29|25 Het;C>T 506;16|23 Hom;C>T 1514;0|56 N N - 17 42985823 42985823 T C snp intronic GFAP Gfap ENSG00000131095 glial fibrillary acidic protein chr17:42982376-42994305 This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Aging/ Telomere Length; cognitive trait Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier. Nuclear signaling by ERBB4 GO:0007010;cytoskeleton organization;IEA|GO:0043254;regulation of protein complex assembly;TAS|GO:1904714;regulation of chaperone-mediated autophagy;ISS GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;ISS|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;TAS|GO:0045111;intermediate filament cytoskeleton;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GFAP https://www.uniprot.org/uniprot/P14136 https://hpo.jax.org/app/browse/search?q=GFAP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137780 http://www.informatics.jax.org/searchtool/Search.do?query=GFAP&submit=Quick%0D%6495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFAP rs9915329 0.392772 0 0 1 0 0 intronic intronic intronic GFAP GFAP ENSG00000131095 Na Na Na Na Na Na Het;T>C 281;6|13 Het;T>C 47;4|4 Hom;T>C 281;0|12 N N - 17 42988959 42988959 T C snp intronic GFAP Gfap ENSG00000131095 glial fibrillary acidic protein chr17:42982376-42994305 This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Aging/ Telomere Length; cognitive trait Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier. Nuclear signaling by ERBB4 GO:0007010;cytoskeleton organization;IEA|GO:0043254;regulation of protein complex assembly;TAS|GO:1904714;regulation of chaperone-mediated autophagy;ISS GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;ISS|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;TAS|GO:0045111;intermediate filament cytoskeleton;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GFAP https://www.uniprot.org/uniprot/P14136 https://hpo.jax.org/app/browse/search?q=GFAP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137780 http://www.informatics.jax.org/searchtool/Search.do?query=GFAP&submit=Quick%0D%6495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFAP rs2289671 0.420727 0 0 1 0 0 intronic intronic intronic GFAP GFAP ENSG00000131095 Na Na Na Na Na Na Het;T>C 773;44|34 Het;T>C 750;26|30 Hom;T>C 1680;4|59 N N - 17 42993118 42993118 G T snp upstream GFAP Gfap ENSG00000131095 glial fibrillary acidic protein chr17:42982376-42994305 This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Aging/ Telomere Length; cognitive trait Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier. Nuclear signaling by ERBB4 GO:0007010;cytoskeleton organization;IEA|GO:0043254;regulation of protein complex assembly;TAS|GO:1904714;regulation of chaperone-mediated autophagy;ISS GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;ISS|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;TAS|GO:0045111;intermediate filament cytoskeleton;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GFAP https://www.uniprot.org/uniprot/P14136 https://hpo.jax.org/app/browse/search?q=GFAP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137780 http://www.informatics.jax.org/searchtool/Search.do?query=GFAP&submit=Quick%0D%6495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFAP rs2070935 0.408347 0 0 1 0 0 upstream upstream intronic GFAP GFAP ENSG00000131095 Na Na Na Na Na Na Het;G>T 1003;36|49 Het;G>T 496;35|24 Hom;G>T 1855;0|70 N N - 17 43101696 43101708 TGTGTGTGTGTGG T indel UTR3 *105_*93delinsA DCAKD Dcakd ENSG00000172992 dephospho-CoA kinase domain containing chr17:43100708-43138473 Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression GO:0015937;coenzyme A biosynthetic process;IBA|GO:0016310;phosphorylation;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004140;dephospho-CoA kinase activity;IBA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCAKD http://www.informatics.jax.org/searchtool/Search.do?query=DCAKD&submit=Quick%0D%13274ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAKD rs781623276 0 0 0 1 0 0 UTR3 UTR3 UTR3 DCAKD(NM_001288655:c.*105_*93delinsA,NM_001288654:c.*105_*93delinsA,NM_001128631:c.*105_*93delinsA,NM_024819:c.*105_*93delinsA) DCAKD(uc002ihx.2:c.*105_*93delinsA,uc010daa.1:c.*105_*93delinsA,uc010dab.1:c.*105_*93delinsA) ENSG00000172992(ENST00000452796:c.*105_*93delinsA,ENST00000342350:c.*105_*93delinsA,ENST00000588499:c.*105_*93delinsA) Na Na Na Na Na Na Het;-GTGTGTGTGTGG 172;3|9 Ref Hom;-GTGTGTGTGTGG 178;0|6 N N - 17 4356375 4356375 G T snp nonsynonymous SNV G607T A203S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SPNS3 Spns3 ENSG00000182557 sphingolipid transporter 3 (putative) chr17:4336983-4391503 Tobacco Use Disorder; Eosinophils GO:0003376;sphingosine-1-phosphate signaling pathway;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0040011;locomotion;IBA|GO:0055085;transmembrane transport;IEA GO:0005765;lysosomal membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA GO:0046624;sphingolipid transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SPNS3 https://www.ncbi.nlm.nih.gov/omim/?term=611701 http://www.informatics.jax.org/searchtool/Search.do?query=SPNS3&submit=Quick%0D%14812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPNS3 rs11655342 0.245008 0.2668 0.3508 0.08 1 13 exonic exonic exonic SPNS3 SPNS3 ENSG00000182557 nonsynonymous SNV nonsynonymous SNV unknown SPNS3:NM_182538:exon8:c.G988T:p.A330S, SPNS3:uc002fxu.3:exon7:c.G607T:p.A203S,SPNS3:uc002fxt.3:exon8:c.G988T:p.A330S, UNKNOWN Het;G>T 1065;69|47 Het;G>T 1056;42|49 Hom;G>T 2983;2|107 N N - 17 4384787 4384787 G A snp ncRNA_exonic AX748345 rs333128 0.688698 0 0 1 0 0 intronic ncRNA_exonic intronic SPNS3 AX748345 ENSG00000182557 Na Na Na Na Na Na Het;G>A 56;1|4 Ref Hom;G>A 85;0|5 N N - 17 45885687 45885687 A G snp synonymous SNV T2499C Y833Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic OSBPL7 Osbpl7 ENSG00000006025 oxysterol binding protein like 7 chr17:45884738-45899200 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] Tunica Media; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Synthesis of bile acids and bile salts GO:0006699;bile acid biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010506;regulation of autophagy;NAS|GO:0015918;sterol transport;IEA|GO:0071397;cellular response to cholesterol;IMP|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0097038;perinuclear endoplasmic reticulum;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/OSBPL7 https://www.uniprot.org/uniprot/Q9BZF2 https://www.ncbi.nlm.nih.gov/omim/?term=606735 http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL7&submit=Quick%0D%383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL7 rs9907142 0.836661 0.9078 0.9032 1 0 0 exonic exonic exonic OSBPL7 OSBPL7 ENSG00000006025 synonymous SNV synonymous SNV unknown OSBPL7:NM_145798:exon23:c.T2499C:p.Y833Y, OSBPL7:uc002ilx.1:exon23:c.T2499C:p.Y833Y,OSBPL7:uc002ilw.1:exon11:c.T1185C:p.Y395Y, UNKNOWN Het;A>G 567;64|34 Het;A>G 556;36|25 Hom;A>G 1941;0|72 N N - 17 45894735 45894735 A G snp intronic OSBPL7 Osbpl7 ENSG00000006025 oxysterol binding protein like 7 chr17:45884738-45899200 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] Tunica Media; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Synthesis of bile acids and bile salts GO:0006699;bile acid biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010506;regulation of autophagy;NAS|GO:0015918;sterol transport;IEA|GO:0071397;cellular response to cholesterol;IMP|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0097038;perinuclear endoplasmic reticulum;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/OSBPL7 https://www.uniprot.org/uniprot/Q9BZF2 https://www.ncbi.nlm.nih.gov/omim/?term=606735 http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL7&submit=Quick%0D%383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL7 rs9914156 0.842053 0.9137 0.9059 1 0 0 intronic intronic intronic OSBPL7 OSBPL7 ENSG00000006025 Na Na Na Na Na Na Het;A>G 653;32|28 Het;A>G 372;21|18 Hom;A>G 2374;0|82 N N - 17 45896478 45896478 T C snp intronic OSBPL7 Osbpl7 ENSG00000006025 oxysterol binding protein like 7 chr17:45884738-45899200 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] Tunica Media; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Synthesis of bile acids and bile salts GO:0006699;bile acid biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010506;regulation of autophagy;NAS|GO:0015918;sterol transport;IEA|GO:0071397;cellular response to cholesterol;IMP|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0097038;perinuclear endoplasmic reticulum;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/OSBPL7 https://www.uniprot.org/uniprot/Q9BZF2 https://www.ncbi.nlm.nih.gov/omim/?term=606735 http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL7&submit=Quick%0D%383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL7 rs878171 0.734026 0.8161 0.8343 1 0 0 intronic intronic intronic OSBPL7 OSBPL7 ENSG00000006025 Na Na Na Na Na Na Het;T>C 1246;42|59 Het;T>C 567;38|27 Hom;T>C 2593;2|100 N N - 17 45897531 45897531 C A snp intronic OSBPL7 Osbpl7 ENSG00000006025 oxysterol binding protein like 7 chr17:45884738-45899200 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] Tunica Media; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Synthesis of bile acids and bile salts GO:0006699;bile acid biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010506;regulation of autophagy;NAS|GO:0015918;sterol transport;IEA|GO:0071397;cellular response to cholesterol;IMP|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0097038;perinuclear endoplasmic reticulum;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/OSBPL7 https://www.uniprot.org/uniprot/Q9BZF2 https://www.ncbi.nlm.nih.gov/omim/?term=606735 http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL7&submit=Quick%0D%383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL7 rs1985407 0.733826 0.8160 0.8344 1 0 0 intronic intronic intronic OSBPL7 OSBPL7 ENSG00000006025 Na Na Na Na Na Na Het;C>A 1183;48|53 Het;C>A 954;54|43 Hom;C>A 3152;0|105 N N - 17 45916725 45916725 T C snp intronic SCRN2 Scrn2 ENSG00000141295 secernin 2 chr17:45915058-45918699 GO:0006508;proteolysis;IEA|GO:0006887;exocytosis;IBA|GO:0008150;biological_process;ND GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0016805;dipeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCRN2 https://www.uniprot.org/uniprot/Q96FV2 https://www.ncbi.nlm.nih.gov/omim/?term=614966 http://www.informatics.jax.org/searchtool/Search.do?query=SCRN2&submit=Quick%0D%8138ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCRN2 rs2074191 0.81889 0 0 1 0 0 intronic intronic intronic SCRN2 SCRN2 ENSG00000141295 Na Na Na Na Na Na Het;T>C 365;7|12 Het;T>C 111;2|4 Hom;T>C 320;0|9 N N - 17 46048157 46048157 A G snp ncRNA_intronic AC018521.1 rs2525084 0.690895 0 0 1 0 0 intronic intronic ncRNA_intronic CDK5RAP3 CDK5RAP3 ENSG00000263798 Na Na Na Na Na Na Het;A>G 445;21|14 Het;A>G 266;11|10 Hom;A>G 1302;0|33 N N - 17 46048165 46048165 T C snp ncRNA_intronic AC018521.1 rs2597168 0.648363 0 0 1 0 0 intronic intronic ncRNA_intronic CDK5RAP3 CDK5RAP3 ENSG00000263798 Na Na Na Na Na Na Het;T>C 335;19|10 Het;T>C 161;7|5 Hom;T>C 1052;0|24 N N - 17 46048168 46048168 C T snp ncRNA_intronic AC018521.1 rs2255697 0.648363 0 0 1 0 0 intronic intronic ncRNA_intronic CDK5RAP3 CDK5RAP3 ENSG00000263798 Na Na Na Na Na Na Het;C>T 338;17|10 Het;C>T 161;7|5 Hom;C>T 827;0|19 N N - 17 46048592 46048592 A G snp unknown CDK5RAP3 Cdk5rap3 ENSG00000108465 CDK5 regulatory subunit associated protein 3 chr17:46045176-46059140 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] Mice homozygous for a knock-out allele exhibit complete fetal lethality, anemia, hypoplastic liver, abnormal liver development and impaired erythropoiesis. GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;ISS|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0007095;mitotic G2 DNA damage checkpoint;IMP|GO:0007420;brain development;NAS|GO:0008283;cell proliferation;IDA|GO:0010921;regulation of phosphatase activity;IMP|GO:0030262;apoptotic nuclear changes;IMP|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IMP|GO:0044818;mitotic G2/M transition checkpoint;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071569;protein ufmylation;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:1900182;positive regulation of protein localization to nucleus;IDA|GO:1901798;positive regulation of signal transduction by p53 class mediator;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030332;cyclin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0051059;NF-kappaB binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP3 https://www.uniprot.org/uniprot/Q96JB5 https://www.ncbi.nlm.nih.gov/omim/?term=608202 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP3&submit=Quick%0D%3718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP3 rs2905846 0.691494 0.7000 0.7137 1 0 0 intronic intronic exonic CDK5RAP3 CDK5RAP3 ENSG00000108465 Na Na unknown Na Na UNKNOWN Het;A>G 823;27|33 Het;A>G 1010;13|41 Hom;A>G 1618;0|52 N N - 17 46048858 46048858 C G snp ncRNA_intronic AC018521.1 rs2525085 0.691893 0 0 1 0 0 intronic intronic ncRNA_intronic CDK5RAP3 CDK5RAP3 ENSG00000263798 Na Na Na Na Na Na Het;C>G 710;28|29 Het;C>G 650;20|26 Hom;C>G 1630;0|51 N N - 17 46048920 46048920 A G snp ncRNA_intronic AC018521.1 rs72823513 0.086262 0 0 1 0 0 intronic intronic ncRNA_intronic CDK5RAP3 CDK5RAP3 ENSG00000263798 Na Na Na Na Na Na Het;A>G 384;8|12 Ref Hom;A>G 469;0|12 N N - 17 46051911 46051911 G A snp UTR5 -541G>A CDK5RAP3 Cdk5rap3 ENSG00000108465 CDK5 regulatory subunit associated protein 3 chr17:46045176-46059140 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] Mice homozygous for a knock-out allele exhibit complete fetal lethality, anemia, hypoplastic liver, abnormal liver development and impaired erythropoiesis. GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;ISS|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0007095;mitotic G2 DNA damage checkpoint;IMP|GO:0007420;brain development;NAS|GO:0008283;cell proliferation;IDA|GO:0010921;regulation of phosphatase activity;IMP|GO:0030262;apoptotic nuclear changes;IMP|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IMP|GO:0044818;mitotic G2/M transition checkpoint;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071569;protein ufmylation;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:1900182;positive regulation of protein localization to nucleus;IDA|GO:1901798;positive regulation of signal transduction by p53 class mediator;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030332;cyclin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0051059;NF-kappaB binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP3 https://www.uniprot.org/uniprot/Q96JB5 https://www.ncbi.nlm.nih.gov/omim/?term=608202 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP3&submit=Quick%0D%3718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP3 rs886444 0.275759 0 0.3694 1 0 0 UTR5 UTR5 intronic CDK5RAP3(NM_001278217:c.-541G>A,NM_001278198:c.-1346G>A,NM_001278216:c.-1346G>A) CDK5RAP3(uc002ims.4:c.-541G>A,uc002imq.2:c.-1346G>A,uc031rda.1:c.-1346G>A) ENSG00000108465 Na Na Na Na Na Na Het;G>A 1344;32|49 Ref Hom;G>A 1983;0|63 N N - 17 46052793 46052793 A G snp intronic CDK5RAP3 Cdk5rap3 ENSG00000108465 CDK5 regulatory subunit associated protein 3 chr17:46045176-46059140 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] Mice homozygous for a knock-out allele exhibit complete fetal lethality, anemia, hypoplastic liver, abnormal liver development and impaired erythropoiesis. GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;ISS|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0007095;mitotic G2 DNA damage checkpoint;IMP|GO:0007420;brain development;NAS|GO:0008283;cell proliferation;IDA|GO:0010921;regulation of phosphatase activity;IMP|GO:0030262;apoptotic nuclear changes;IMP|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IMP|GO:0044818;mitotic G2/M transition checkpoint;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071569;protein ufmylation;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:1900182;positive regulation of protein localization to nucleus;IDA|GO:1901798;positive regulation of signal transduction by p53 class mediator;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030332;cyclin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0051059;NF-kappaB binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP3 https://www.uniprot.org/uniprot/Q96JB5 https://www.ncbi.nlm.nih.gov/omim/?term=608202 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP3&submit=Quick%0D%3718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP3 rs2597172 0.689097 0 0 1 0 0 intronic intronic intronic CDK5RAP3 CDK5RAP3 ENSG00000108465 Na Na Na Na Na Na Het;A>G 553;20|20 Het;A>G 228;17|11 Hom;A>G 1107;0|32 N N - 17 46054264 46054264 C A snp intronic CDK5RAP3 Cdk5rap3 ENSG00000108465 CDK5 regulatory subunit associated protein 3 chr17:46045176-46059140 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] Mice homozygous for a knock-out allele exhibit complete fetal lethality, anemia, hypoplastic liver, abnormal liver development and impaired erythropoiesis. GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;ISS|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0007095;mitotic G2 DNA damage checkpoint;IMP|GO:0007420;brain development;NAS|GO:0008283;cell proliferation;IDA|GO:0010921;regulation of phosphatase activity;IMP|GO:0030262;apoptotic nuclear changes;IMP|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IMP|GO:0044818;mitotic G2/M transition checkpoint;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071569;protein ufmylation;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:1900182;positive regulation of protein localization to nucleus;IDA|GO:1901798;positive regulation of signal transduction by p53 class mediator;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030332;cyclin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0051059;NF-kappaB binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP3 https://www.uniprot.org/uniprot/Q96JB5 https://www.ncbi.nlm.nih.gov/omim/?term=608202 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP3&submit=Quick%0D%3718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP3 rs2525087 0.697284 0 0 1 0 0 intronic intronic intronic CDK5RAP3 CDK5RAP3 ENSG00000108465 Na Na Na Na Na Na Het;C>A 369;21|14 Het;C>A 378;15|17 Hom;C>A 594;0|21 N N - 17 46055347 46055347 A G snp intronic CDK5RAP3 Cdk5rap3 ENSG00000108465 CDK5 regulatory subunit associated protein 3 chr17:46045176-46059140 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] Mice homozygous for a knock-out allele exhibit complete fetal lethality, anemia, hypoplastic liver, abnormal liver development and impaired erythropoiesis. GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;ISS|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0007095;mitotic G2 DNA damage checkpoint;IMP|GO:0007420;brain development;NAS|GO:0008283;cell proliferation;IDA|GO:0010921;regulation of phosphatase activity;IMP|GO:0030262;apoptotic nuclear changes;IMP|GO:0030968;endoplasmic reticulum unfolded protein response;IMP|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IMP|GO:0044818;mitotic G2/M transition checkpoint;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071569;protein ufmylation;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IMP|GO:1900182;positive regulation of protein localization to nucleus;IDA|GO:1901798;positive regulation of signal transduction by p53 class mediator;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030332;cyclin binding;IPI|GO:0044389;ubiquitin-like protein ligase binding;IDA|GO:0051019;mitogen-activated protein kinase binding;IPI|GO:0051059;NF-kappaB binding;IPI|GO:0097371;MDM2/MDM4 family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP3 https://www.uniprot.org/uniprot/Q96JB5 https://www.ncbi.nlm.nih.gov/omim/?term=608202 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP3&submit=Quick%0D%3718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP3 rs2875746 0.663139 0 0 1 0 0 intronic intronic intronic CDK5RAP3 CDK5RAP3 ENSG00000108465 Na Na Na Na Na Na Het;A>G 123;6|7 Het;A>G 247;16|10 Hom;A>G 483;0|17 N N - 17 46103760 46103760 A G snp UTR3 *34T>C COPZ2 Copz2 ENSG00000005243 coatomer protein complex subunit zeta 2 chr17:46103533-46115392 This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014] COPI-dependent Golgi-to-ER retrograde traffic GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030133;transport vesicle;TAS|GO:0030663;COPI-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/COPZ2 https://www.uniprot.org/uniprot/Q9P299 https://www.ncbi.nlm.nih.gov/omim/?term=615526 http://www.informatics.jax.org/searchtool/Search.do?query=COPZ2&submit=Quick%0D%356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COPZ2 rs12051 0.275759 0.3491 0.3464 1 0 0 UTR3 UTR3 UTR3 COPZ2(NM_016429:c.*34T>C) COPZ2(uc002imy.3:c.*34T>C) ENSG00000005243(ENST00000581756:c.*34T>C,ENST00000581637:c.*194T>C,ENST00000583414:c.*155T>C,ENST00000006101:c.*34T>C,ENST00000584955:c.*142T>C) Na Na Na Na Na Na Het;A>G 592;25|26 Het;A>G 478;27|24 Hom;A>G 1205;0|44 N N - 17 46106634 46106634 G T snp intronic COPZ2 Copz2 ENSG00000005243 coatomer protein complex subunit zeta 2 chr17:46103533-46115392 This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014] COPI-dependent Golgi-to-ER retrograde traffic GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030133;transport vesicle;TAS|GO:0030663;COPI-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/COPZ2 https://www.uniprot.org/uniprot/Q9P299 https://www.ncbi.nlm.nih.gov/omim/?term=615526 http://www.informatics.jax.org/searchtool/Search.do?query=COPZ2&submit=Quick%0D%356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COPZ2 rs9898218 0.280351 0 0 1 0 0 intronic intronic intronic COPZ2 COPZ2 ENSG00000005243 Na Na Na Na Na Na Het;G>T 88;8|4 Het;G>T 231;3|10 Hom;G>T 271;0|10 N N - 17 46190106 46190106 T TC indel intronic SNX11 Snx11 ENSG00000002919 sorting nexin 11 chr17:46180719-46200436 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IBA|GO:0015031;protein transport;IEA|GO:0016050;vesicle organization;IMP GO:0005622;intracellular;IEA|GO:0005768;endosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:1901981;phosphatidylinositol phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SNX11 https://www.uniprot.org/uniprot/Q9Y5W9 https://www.ncbi.nlm.nih.gov/omim/?term=614906 http://www.informatics.jax.org/searchtool/Search.do?query=SNX11&submit=Quick%0D%297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX11 rs532423638 0.0772764 0 0.1518 1 0 0 intronic intronic intronic SNX11 SNX11 ENSG00000002919 Na Na Na Na Na Na Het;+C 276;3|10 Ref Hom;+C 462;0|13 N N - 17 46190928 46190928 T C snp intronic SNX11 Snx11 ENSG00000002919 sorting nexin 11 chr17:46180719-46200436 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IBA|GO:0015031;protein transport;IEA|GO:0016050;vesicle organization;IMP GO:0005622;intracellular;IEA|GO:0005768;endosome;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IBA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:1901981;phosphatidylinositol phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SNX11 https://www.uniprot.org/uniprot/Q9Y5W9 https://www.ncbi.nlm.nih.gov/omim/?term=614906 http://www.informatics.jax.org/searchtool/Search.do?query=SNX11&submit=Quick%0D%297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX11 rs12601675 0.735423 0 0 1 0 0 intronic intronic intronic SNX11 SNX11 ENSG00000002919 Na Na Na Na Na Na Het;T>C 40;4|4 Ref Hom;T>C 242;0|6 N N - 17 46523974 46523974 A G snp ncRNA_exonic LOC101927166 rs72827876 0.0824681 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101927166 SKAP1(dist=16380),HOXB1(dist=82833) ENSG00000141293(dist=16337),ENSG00000264451(dist=13758) Na Na Na Na Na Na Het;A>G 686;56|35 Ref Hom;A>G 2123;0|80 N N - 17 46532624 46532624 G T snp ncRNA_exonic LOC101927166 rs72827882 0.0824681 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101927166 SKAP1(dist=25030),HOXB1(dist=74183) ENSG00000141293(dist=24987),ENSG00000264451(dist=5108) Na Na Na Na Na Na Het;G>T 369;29|19 Ref Hom;G>T 1034;0|39 N N - 17 46542828 46542828 C G snp ncRNA_exonic LOC101927166 rs8073618 0.491014 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927166 SKAP1(dist=35234),HOXB1(dist=63979) ENSG00000264451 Na Na Na Na Na Na Het;C>G 544;35|25 Het;C>G 411;33|19 Hom;C>G 1469;0|57 N N - 17 46625688 46625690 GTT G indel ncRNA_intronic HOXB-AS1 rs145271943 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic HOXB-AS1 HOXB-AS1 ENSG00000230148 Na Na Na Na Na Na Het;-TT 279;9|13 Ref Hom;-TT 313;0|11 N N - 17 46627261 46627262 GA G indel ncRNA_exonic HOXB-AS1 rs398030980 0.61242 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic HOXB-AS1 HOXB-AS1 ENSG00000230148,ENSG00000233101 Na Na Na Na Na Na Het;-A 814;51|46 Het;-A 647;57|40 Hom;-A 1638;2|70 N N - 17 46629593 46629593 G T snp nonsynonymous SNV C244A P82T hydrophobic,neutral polar,hydrophilic,neutral HOXB3 Hoxb3 ENSG00000120093 homeobox B3 chr17:46626232-46682274 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele display partial neonatal lethality and mild and low penetrance defects in the formation of the anterior arch of the atlas and the IXth cranial nerve. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEP|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0021546;rhombomere development;IEA|GO:0021615;glossopharyngeal nerve morphogenesis;IEA|GO:0030878;thyroid gland development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0051216;cartilage development;IEA|GO:0060216;definitive hemopoiesis;IEA|GO:0060324;face development;IEA GO:0005634;nucleus;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOXB3 https://www.uniprot.org/uniprot/P14651 https://www.ncbi.nlm.nih.gov/omim/?term=142966 http://www.informatics.jax.org/searchtool/Search.do?query=HOXB3&submit=Quick%0D%5165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXB3 rs2229304 0.603435 0.6122 0.6686 0.33 4 12 exonic exonic exonic HOXB3 HOXB3 ENSG00000120093 nonsynonymous SNV nonsynonymous SNV unknown HOXB3:NM_002146:exon3:c.C244A:p.P82T, HOXB3:uc002ino.3:exon3:c.C244A:p.P82T,HOXB3:uc010wlm.2:exon3:c.C25A:p.P9T,HOXB3:uc010dbf.3:exon4:c.C244A:p.P82T,HOXB3:uc010wll.2:exon4:c.C25A:p.P9T,HOXB3:uc010dbg.3:exon2:c.C244A:p.P82T,HOXB3:uc002inn.3:exon1:c.C244A:p.P82T, UNKNOWN Het;G>T 1678;29|64 Ref Hom;G>T 3437;2|118 N N - 17 47076718 47076718 T TA indel intronic IGF2BP1 Igf2bp1 ENSG00000159217 insulin like growth factor 2 mRNA binding protein 1 chr17:47074774-47133012 This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Odontogenesis; atherosclerosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X|Obesity; primary tooth development ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary Homozygous mutation of this locus results in increased neonatal lethality, growth retardation, and impaired intestinal development. Males exhibit increased anxiety-like response and decreased exploratory behavior. MAPK6/MAPK4 signaling GO:0006403;RNA localization;IEA|GO:0006417;regulation of translation;IEA|GO:0006810;transport;IEA|GO:0010610;regulation of mRNA stability involved in response to stress;IMP|GO:0017148;negative regulation of translation;IDA|GO:0022013;pallium cell proliferation in forebrain;IEA|GO:0042035;regulation of cytokine biosynthetic process;IC|GO:0043488;regulation of mRNA stability;TAS|GO:0051028;mRNA transport;IEA|GO:0070934;CRD-mediated mRNA stabilization;IDA|GO:0097150;neuronal stem cell population maintenance;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070937;CRD-mediated mRNA stability complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0045182;translation regulator activity;IDA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/IGF2BP1 https://www.ncbi.nlm.nih.gov/omim/?term=608288 http://www.informatics.jax.org/searchtool/Search.do?query=IGF2BP1&submit=Quick%0D%10306ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGF2BP1 rs397769376 0.815096 0 0 1 0 0 intronic intronic intronic IGF2BP1 IGF2BP1 ENSG00000159217 Na Na Na Na Na Na Het;+A 178;6|10 Ref Hom;+A 104;0|5 N N - 17 47653804 47653804 A T snp ncRNA_intronic AC006487.2 rs2676791 0.628195 0 0 1 0 0 intronic intronic ncRNA_intronic NXPH3 NXPH3 ENSG00000250310 Na Na Na Na Na Na Het;A>T 361;7|13 Het;A>T 91;8|5 Hom;A>T 250;0|9 N N - 17 47688881 47688881 T TAGAG indel intronic SPOP Spop ENSG00000121067 speckle type BTB/POZ protein chr17:47676246-47755596 This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Heart Failure; Tobacco Use Disorder Mice homozygous for a gene trap allele exhibit increased beta cell area and lethality between E18.5 and P1. Hedgehog 'on' state GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030162;regulation of proteolysis;IBA|GO:0042593;glucose homeostasis;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1902237;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:2000676;positive regulation of type B pancreatic cell apoptotic process;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IBA|GO:0016607;nuclear speck;IEA|GO:0019005;SCF ubiquitin ligase complex;IBA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA GO:0001085;RNA polymerase II transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPOP https://www.uniprot.org/uniprot/O43791 https://www.ncbi.nlm.nih.gov/omim/?term=602650 http://www.informatics.jax.org/searchtool/Search.do?query=SPOP&submit=Quick%0D%5286ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOP rs140209761 0.734425 0 0 1 0 0 intronic intronic intronic SPOP SPOP ENSG00000121067 Na Na Na Na Na Na Het;+AGAG 848;13|23 Ref Hom;+AGAG 2055;0|48 N N - 17 4794495 4794501 GCACACA G indel intronic MINK1 Mink1 ENSG00000141503 misshapen like kinase 1 chr17:4736683-4801356 This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016] atrial fibrillation; Long QT Syndrome Oxidative Stress Induced Senescence GO:0001952;regulation of cell-matrix adhesion;IMP|GO:0006468;protein phosphorylation;IMP|GO:0006950;response to stress;ISS|GO:0007254;JNK cascade;TAS|GO:0007268;chemical synaptic transmission;ISS|GO:0007275;multicellular organism development;ISS|GO:0016310;phosphorylation;IEA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030334;regulation of cell migration;IMP|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0035556;intracellular signal transduction;ISS|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048813;dendrite morphogenesis;ISS|GO:2000311;regulation of AMPA receptor activity;ISS GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MINK1 https://www.uniprot.org/uniprot/Q8N4C8 https://www.ncbi.nlm.nih.gov/omim/?term=609426 http://www.informatics.jax.org/searchtool/Search.do?query=MINK1&submit=Quick%0D%8176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MINK1 rs113029195 0 0 0 1 0 0 intronic intronic intronic MINK1 MINK1 ENSG00000141503 Na Na Na Na Na Na Het;-CACACA 621;22|20 Het;-CACACA 716;8|16 Hom;-CACACA 1688;2|45 N N - 17 4795619 4795620 TG T indel intronic MINK1 Mink1 ENSG00000141503 misshapen like kinase 1 chr17:4736683-4801356 This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016] atrial fibrillation; Long QT Syndrome Oxidative Stress Induced Senescence GO:0001952;regulation of cell-matrix adhesion;IMP|GO:0006468;protein phosphorylation;IMP|GO:0006950;response to stress;ISS|GO:0007254;JNK cascade;TAS|GO:0007268;chemical synaptic transmission;ISS|GO:0007275;multicellular organism development;ISS|GO:0016310;phosphorylation;IEA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030334;regulation of cell migration;IMP|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0035556;intracellular signal transduction;ISS|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048813;dendrite morphogenesis;ISS|GO:2000311;regulation of AMPA receptor activity;ISS GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MINK1 https://www.uniprot.org/uniprot/Q8N4C8 https://www.ncbi.nlm.nih.gov/omim/?term=609426 http://www.informatics.jax.org/searchtool/Search.do?query=MINK1&submit=Quick%0D%8176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MINK1 rs36079581 0 0 0 1 0 0 intronic intronic intronic MINK1 MINK1 ENSG00000141503 Na Na Na Na Na Na Het;-G 481;15|19 Het;-G 454;14|18 Hom;-G 649;0|21 N N - 17 48047421 48047421 G A snp intronic DLX4 Dlx4 ENSG00000108813 distal-less homeobox 4 chr17:48046334-48052321 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate|Tooth Abnormalities; Cleft Lip|Cleft Palate GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DLX4 https://www.uniprot.org/uniprot/Q92988 https://hpo.jax.org/app/browse/search?q=DLX4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601911 http://www.informatics.jax.org/searchtool/Search.do?query=DLX4&submit=Quick%0D%3772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLX4 rs919089 0.664137 0 0 1 0 0 intronic intronic intronic DLX4 DLX4 ENSG00000108813 Na Na Na Na Na Na Het;G>A 48;1|3 Ref Hom;G>A 147;0|5 N N - 17 48165419 48165419 C T snp intronic ITGA3 Itga3 ENSG00000005884 integrin subunit alpha 3 chr17:48133332-48167845 The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015] myocardial infarct; Leukemia, Lymphocytic, Chronic, B-Cell; breast cancer; stroke, ischemic; atherosclerosis, coronary; thyroid cancer; hearing loss/deafness; angina; breast cancer ; fetal loss, late; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; schizophrenia Homozygotes for a targeted null mutation exhibit defects of the kidney and submandibular gland, decreased bronchial branching of the lungs, skin blisters at the dermal-epidermal junction, abnormal layering of the cerebral cortex and perinatal lethality. MET activates PTK2 signaling GO:0001764;neuron migration;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007507;heart development;IEA|GO:0007613;memory;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0030111;regulation of Wnt signaling pathway;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IMP|GO:0030510;regulation of BMP signaling pathway;IMP|GO:0031345;negative regulation of cell projection organization;IEA|GO:0034698;response to gonadotropin;IEA|GO:0035024;negative regulation of Rho protein signal transduction;IEA|GO:0035640;exploration behavior;IEA|GO:0042493;response to drug;IEA|GO:0043588;skin development;IMP|GO:0044708;single-organism behavior;IEA|GO:0048333;mesodermal cell differentiation;IEP|GO:0050900;leukocyte migration;TAS|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0072006;nephron development;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:0097062;dendritic spine maintenance;IEA|GO:0097205;renal filtration;IMP GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;IEA|GO:0031527;filopodium membrane;IDA|GO:0034667;integrin alpha3-beta1 complex;IDA|GO:0042995;cell projection;IEA|GO:0043235;receptor complex;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0060076;excitatory synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0071438;invadopodium membrane;IDA|GO:0071944;cell periphery;IDA|GO:0097060;synaptic membrane;IEA GO:0001948;glycoprotein binding;IPI|GO:0001968;fibronectin binding;IEA|GO:0002020;protease binding;IPI|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043236;laminin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ITGA3 https://www.uniprot.org/uniprot/P26006 https://hpo.jax.org/app/browse/search?q=ITGA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605025 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA3&submit=Quick%0D%376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA3 rs2269770 0.154353 0 0 1 0 0 intronic intronic intronic ITGA3 ITGA3 ENSG00000005884 Na Na Na Na Na Na Het;C>T 234;5|9 Ref Hom;C>T 155;0|5 N N - 17 4835852 4835852 A T snp intronic GP1BA Gp1ba ENSG00000185245 glycoprotein Ib platelet alpha subunit chr17:4835592-4838325 Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013] cerebrovascular disease, ischemic; patent ductus arteriosus; Thromboembolism; atherosclerosis, generalized; coronary artery stent thrombosis; Coronary Artery Disease|; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; cerebrovascular disease; sickle cell anemia; Apoplexy|Myocardial ischemia|Stroke; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Myocardial Infarction; stroke, ischemic; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; atherosclerosis; Kidney Failure, Chronic; Apoplexy|Diabetes mellitus|Hypercholesterolemia|Hyperhomocysteinemia|Hypertension|Myocardial Infarction|Stroke|Thrombophilia; Brain Ischemia|Thrombophilia; Coronary Thrombosis; Acute Coronary Syndrome|Myocardial Infarction|Recurrence; Acute Coronary Syndrome|; Bernard-Soulier Syndrome; age at first coronary bypass operation; Apoplexy|Recurrence|Stroke; coronary artery disease; platelet aggregation; Thrombocytopenia; Hemorrhage|Thrombosis; Pulmonary Embolism; Platelet Count; heart disease, ischemic; peripheral arterial disease; brain hemorrhage; hyperactive surface receptor; coronary disease; vaso-occlusive crisis; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Recurrence|Stroke; thrombocytopenia; myocardial infarction; sudden cardiac death; lymphoproliferative disorders; Cerebral Infarction; breast cancer; myocardial infarction; Brain Ischemia|Stroke; Hemorrhagic Disorders; lymphoproliferative disorders; blood transfusion complications; Thrombosis; angina; atherosclerosis, coronary myocardial infarct; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; cerebrovascular disease; heart disease, ischemic; myocardial infarction; sudden cardiac death; recurrent coronary event; Brain Ischemia|Stroke|Vascular Diseases; stroke; Hemolytic-Uremic Syndrome; Vascular Diseases; bleeding complications; Glomerulonephritis, IGA; thrombus formation, arterial; myocardial infarct; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Apoplexy|Carotid artery stenosis|Carotid Stenosis|Hyperhomocysteinemia|Stroke; coronary heart disease; heart disease, ischemic; normal variation; Apoplexy|Stroke; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; transient ischemic attacks; Resistance in vitro to low-dose aspirin Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0000902;cell morphogenesis;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007155;cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;TAS|GO:0042730;fibrinolysis;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0070493;thrombin-activated receptor signaling pathway;IEA|GO:0070527;platelet aggregation;IEA GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI|GO:0015057;thrombin-activated receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GP1BA https://hpo.jax.org/app/browse/search?q=GP1BA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606672 http://www.informatics.jax.org/searchtool/Search.do?query=GP1BA&submit=Quick%0D%15372ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GP1BA rs81663 0.177117 0.2652 0.3016 1 0 0 intronic intronic intronic GP1BA GP1BA ENSG00000185245 Na Na Na Na Na Na Het;A>T 974;37|45 Het;A>T 617;25|31 Hom;A>T 1663;2|66 N N - 17 4837171 4837210 GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA G indel nonframeshift substitution 1272_1311G GP1BA Gp1ba ENSG00000185245 glycoprotein Ib platelet alpha subunit chr17:4835592-4838325 Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013] cerebrovascular disease, ischemic; patent ductus arteriosus; Thromboembolism; atherosclerosis, generalized; coronary artery stent thrombosis; Coronary Artery Disease|; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; cerebrovascular disease; sickle cell anemia; Apoplexy|Myocardial ischemia|Stroke; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Myocardial Infarction; stroke, ischemic; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; atherosclerosis; Kidney Failure, Chronic; Apoplexy|Diabetes mellitus|Hypercholesterolemia|Hyperhomocysteinemia|Hypertension|Myocardial Infarction|Stroke|Thrombophilia; Brain Ischemia|Thrombophilia; Coronary Thrombosis; Acute Coronary Syndrome|Myocardial Infarction|Recurrence; Acute Coronary Syndrome|; Bernard-Soulier Syndrome; age at first coronary bypass operation; Apoplexy|Recurrence|Stroke; coronary artery disease; platelet aggregation; Thrombocytopenia; Hemorrhage|Thrombosis; Pulmonary Embolism; Platelet Count; heart disease, ischemic; peripheral arterial disease; brain hemorrhage; hyperactive surface receptor; coronary disease; vaso-occlusive crisis; Type 2 Diabetes| edema | rosiglitazone; Brain Ischemia|Recurrence|Stroke; thrombocytopenia; myocardial infarction; sudden cardiac death; lymphoproliferative disorders; Cerebral Infarction; breast cancer; myocardial infarction; Brain Ischemia|Stroke; Hemorrhagic Disorders; lymphoproliferative disorders; blood transfusion complications; Thrombosis; angina; atherosclerosis, coronary myocardial infarct; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; cerebrovascular disease; heart disease, ischemic; myocardial infarction; sudden cardiac death; recurrent coronary event; Brain Ischemia|Stroke|Vascular Diseases; stroke; Hemolytic-Uremic Syndrome; Vascular Diseases; bleeding complications; Glomerulonephritis, IGA; thrombus formation, arterial; myocardial infarct; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Apoplexy|Carotid artery stenosis|Carotid Stenosis|Hyperhomocysteinemia|Stroke; coronary heart disease; heart disease, ischemic; normal variation; Apoplexy|Stroke; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; transient ischemic attacks; Resistance in vitro to low-dose aspirin Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0000902;cell morphogenesis;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007155;cell adhesion;IDA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;TAS|GO:0042730;fibrinolysis;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0070493;thrombin-activated receptor signaling pathway;IEA|GO:0070527;platelet aggregation;IEA GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI|GO:0015057;thrombin-activated receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GP1BA https://hpo.jax.org/app/browse/search?q=GP1BA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606672 http://www.informatics.jax.org/searchtool/Search.do?query=GP1BA&submit=Quick%0D%15372ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GP1BA rs770991996 0 0 0.0740 1 0 0 exonic exonic exonic GP1BA GP1BA ENSG00000185245 nonframeshift substitution nonframeshift substitution unknown GP1BA:NM_000173:exon2:c.1272_1311G, GP1BA:uc021tob.1:exon1:c.1272_1311G,GP1BA:uc021tnz.1:exon2:c.1272_1311G, UNKNOWN Het;-GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA 1099;4|36 Het;-GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA 398;38|20 Hom;-GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA 1050;0|34 N N - 17 48452776 48452776 A C snp nonsynonymous SNV A207C E69D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) EME1 Eme1 ENSG00000154920 essential meiotic structure-specific endonuclease 1 chr17:48450581-48458844 This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; breast cancer; Brain Neoplasms|Glioblastoma; Brain Neoplasms|Glioma; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Fanconi Anemia Pathway GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IBA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0031297;replication fork processing;IBA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0036297;interstrand cross-link repair;TAS|GO:0072429;response to intra-S DNA damage checkpoint signaling;IMP|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005720;nuclear heterochromatin;IEA|GO:0005730;nucleolus;IEA|GO:0048476;Holliday junction resolvase complex;IBA GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004520;endodeoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0008821;crossover junction endodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EME1 https://www.uniprot.org/uniprot/Q96AY2 https://www.ncbi.nlm.nih.gov/omim/?term=610885 http://www.informatics.jax.org/searchtool/Search.do?query=EME1&submit=Quick%0D%9821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EME1 rs3760413 0.745407 0.9213 0.8180 0.08 1 13 exonic exonic exonic EME1 EME1 ENSG00000154920 nonsynonymous SNV nonsynonymous SNV unknown EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D, EME1:uc002iqs.2:exon2:c.A207C:p.E69D,EME1:uc010dbp.2:exon2:c.A207C:p.E69D, UNKNOWN Het;A>C 1212;76|49 Het;A>C 894;58|46 Hom;A>C 3094;2|103 N N - 17 4845768 4845768 G A snp intronic RNF167 Rnf167 ENSG00000108523 ring finger protein 167 chr17:4843303-4848517 RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008] GO:0000209;protein polyubiquitination;IDA|GO:0016567;protein ubiquitination;IEA|GO:0045786;negative regulation of cell cycle;IMP GO:0005737;cytoplasm;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF167 https://www.uniprot.org/uniprot/Q9H6Y7 https://www.ncbi.nlm.nih.gov/omim/?term=610431 http://www.informatics.jax.org/searchtool/Search.do?query=RNF167&submit=Quick%0D%3729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF167 rs238247 0.322085 0.4787 0.4763 1 0 0 intronic intronic intronic RNF167 RNF167 ENSG00000108523 Na Na Na Na Na Na Het;G>A 1715;69|75 Het;G>A 1113;34|50 Hom;G>A 2696;0|95 N N - 17 48472270 48472270 C T snp intronic LRRC59 Lrrc59 ENSG00000108829 leucine rich repeat containing 59 chr17:48452420-48474914 GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0003723;RNA binding;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRRC59 https://www.uniprot.org/uniprot/Q96AG4 https://www.ncbi.nlm.nih.gov/omim/?term=614854 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC59&submit=Quick%0D%3779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC59 rs3760407 0.725839 0.9036 0.8124 1 0 0 intronic intronic intronic LRRC59 LRRC59 ENSG00000108829 Na Na Na Na Na Na Het;C>T 382;10|18 Het;C>T 224;18|12 Hom;C>T 636;0|24 N N - 17 4849774 4849774 G A snp intronic PFN1 Pfn1 ENSG00000108518 profilin 1 chr17:4848947-4852356 This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012] AMYOTROPHIC LATERAL SCLEROSIS 18 Homozygous mice die at early embryonic stages. Some heterozygous mice die either in early embryonic stages or in the perinatal period; animals that survive reach adulthood and are phenotypically normal. RHO GTPases Activate Formins GO:0001843;neural tube closure;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IDA|GO:0030838;positive regulation of actin filament polymerization;IGI|GO:0032232;negative regulation of actin filament bundle assembly;IMP|GO:0032233;positive regulation of actin filament bundle assembly;IBA|GO:0032781;positive regulation of ATPase activity;IDA|GO:0050821;protein stabilization;IDA|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:1900029;positive regulation of ruffle assembly;IMP GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0000774;adenyl-nucleotide exchange factor activity;IDA|GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IEA|GO:0045296;cadherin binding;IDA|GO:0070064;proline-rich region binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PFN1 https://www.uniprot.org/uniprot/P07737 https://hpo.jax.org/app/browse/search?q=PFN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176610 http://www.informatics.jax.org/searchtool/Search.do?query=PFN1&submit=Quick%0D%3728ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PFN1 rs238242 0.497404 0 0 1 0 0 intronic intronic intronic PFN1 PFN1 ENSG00000108518 Na Na Na Na Na Na Het;G>A 240;2|8 Het;G>A 92;9|4 Hom;G>A 161;0|5 N N - 17 48504132 48504132 A G snp intronic ACSF2 Acsf2 ENSG00000167107 acyl-CoA synthetase family member 2 chr17:48503519-48552206 Acquired Immunodeficiency Syndrome|Disease Progression Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. Mitochondrial Fatty Acid Beta-Oxidation GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSF2 https://www.ncbi.nlm.nih.gov/omim/?term=610465 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2 rs9901133 0.488618 0 0 1 0 0 intronic intronic intronic ACSF2 ACSF2 ENSG00000167107 Na Na Na Na Na Na Het;A>G 117;2|4 Ref Hom;A>G 312;0|8 N N - 17 48539997 48539997 T C snp intronic ACSF2 Acsf2 ENSG00000167107 acyl-CoA synthetase family member 2 chr17:48503519-48552206 Acquired Immunodeficiency Syndrome|Disease Progression Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. Mitochondrial Fatty Acid Beta-Oxidation GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSF2 https://www.ncbi.nlm.nih.gov/omim/?term=610465 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2 rs8082089 0.55012 0.6451 0.5407 1 0 0 intronic intronic intronic ACSF2 ACSF2 ENSG00000167107 Na Na Na Na Na Na Het;T>C 486;27|19 Het;T>C 580;25|23 Hom;T>C 1040;0|34 N N - 17 48540960 48540960 C G snp intronic ACSF2 Acsf2 ENSG00000167107 acyl-CoA synthetase family member 2 chr17:48503519-48552206 Acquired Immunodeficiency Syndrome|Disease Progression Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. Mitochondrial Fatty Acid Beta-Oxidation GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSF2 https://www.ncbi.nlm.nih.gov/omim/?term=610465 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2 rs3744522 0.548722 0.6456 0.5419 1 0 0 intronic intronic intronic ACSF2 ACSF2 ENSG00000167107 Na Na Na Na Na Na Het;C>G 328;16|14 Het;C>G 435;28|17 Hom;C>G 910;0|31 N N - 17 48541707 48541707 G A snp intronic ACSF2 Acsf2 ENSG00000167107 acyl-CoA synthetase family member 2 chr17:48503519-48552206 Acquired Immunodeficiency Syndrome|Disease Progression Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. Mitochondrial Fatty Acid Beta-Oxidation GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSF2 https://www.ncbi.nlm.nih.gov/omim/?term=610465 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2 rs898455 0.548522 0.6518 0.5408 1 0 0 intronic intronic intronic ACSF2 ACSF2 ENSG00000167107 Na Na Na Na Na Na Het;G>A 328;7|15 Het;G>A 151;4|7 Hom;G>A 493;0|18 N N - 17 48542572 48542572 C G snp intronic ACSF2 Acsf2 ENSG00000167107 acyl-CoA synthetase family member 2 chr17:48503519-48552206 Acquired Immunodeficiency Syndrome|Disease Progression Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. Mitochondrial Fatty Acid Beta-Oxidation GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003996;acyl-CoA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSF2 https://www.ncbi.nlm.nih.gov/omim/?term=610465 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF2&submit=Quick%0D%11950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF2 rs898454 0.548522 0 0 1 0 0 intronic intronic intronic ACSF2,CHAD ACSF2,CHAD ENSG00000136457,ENSG00000167107 Na Na Na Na Na Na Het;C>G 347;7|12 Het;C>G 200;3|7 Hom;C>G 611;0|18 N N - 17 4854480 4854480 C T snp UTR5 -645C>T ENO3 Eno3 ENSG00000108515 enolase 3 chr17:4851387-4860426 This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010] Muscular Dystrophies, Limb-Girdle; longevity Gluconeogenesis GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IEA|GO:0007568;aging;IEA|GO:0021762;substantia nigra development;IEP|GO:0042493;response to drug;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0061621;canonical glycolysis;TAS GO:0000015;phosphopyruvate hydratase complex;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004634;phosphopyruvate hydratase activity;IEA|GO:0016829;lyase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENO3 https://www.uniprot.org/uniprot/P13929 https://hpo.jax.org/app/browse/search?q=ENO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=131370 http://www.informatics.jax.org/searchtool/Search.do?query=ENO3&submit=Quick%0D%3727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENO3 rs366577 0.326078 0 0 1 0 0 UTR5 UTR5 UTR5 ENO3(NM_001976:c.-645C>T) ENO3(uc002gac.4:c.-645C>T) ENSG00000108515(ENST00000323997:c.-645C>T,ENST00000522249:c.-645C>T) Na Na Na Na Na Na Het;C>T 1164;61|58 Het;C>T 767;43|36 Hom;C>T 2849;0|106 N N - 17 48557326 48557326 G A snp nonsynonymous SNV G355A A119T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral RSAD1 Rsad1 ENSG00000136444 radical S-adenosyl methionine domain containing 1 chr17:48556161-48563336 Acquired Immunodeficiency Syndrome|Disease Progression GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA GO:0003824;catalytic activity;IEA|GO:0004109;coproporphyrinogen oxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RSAD1 https://www.uniprot.org/uniprot/Q9HA92 http://www.informatics.jax.org/searchtool/Search.do?query=RSAD1&submit=Quick%0D%7343ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSAD1 rs2290862 0.584465 0.7084 0.5920 0.08 1 13 exonic exonic exonic RSAD1 RSAD1 ENSG00000136444 nonsynonymous SNV nonsynonymous SNV unknown RSAD1:NM_018346:exon3:c.G355A:p.A119T, RSAD1:uc002iqw.1:exon3:c.G355A:p.A119T,RSAD1:uc010wmp.2:exon3:c.G355A:p.A119T, UNKNOWN Het;G>A 2642;94|121 Het;G>A 1453;113|71 Hom;G>A 4011;0|146 N N - 17 48557348 48557348 T C snp nonsynonymous SNV T377C L126S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral RSAD1 Rsad1 ENSG00000136444 radical S-adenosyl methionine domain containing 1 chr17:48556161-48563336 Acquired Immunodeficiency Syndrome|Disease Progression GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA GO:0003824;catalytic activity;IEA|GO:0004109;coproporphyrinogen oxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RSAD1 https://www.uniprot.org/uniprot/Q9HA92 http://www.informatics.jax.org/searchtool/Search.do?query=RSAD1&submit=Quick%0D%7343ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSAD1 rs2290861 0.584665 0.7085 0.5926 0.23 3 13 exonic exonic exonic RSAD1 RSAD1 ENSG00000136444 nonsynonymous SNV nonsynonymous SNV unknown RSAD1:NM_018346:exon3:c.T377C:p.L126S, RSAD1:uc002iqw.1:exon3:c.T377C:p.L126S,RSAD1:uc010wmp.2:exon3:c.T377C:p.L126S, UNKNOWN Het;T>C 2918;108|130 Het;T>C 1720;132|81 Hom;T>C 4386;3|158 N N - 17 4856580 4856580 T C snp nonsynonymous SNV T254C V85A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ENO3 Eno3 ENSG00000108515 enolase 3 chr17:4851387-4860426 This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010] Muscular Dystrophies, Limb-Girdle; longevity Gluconeogenesis GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IEA|GO:0007568;aging;IEA|GO:0021762;substantia nigra development;IEP|GO:0042493;response to drug;IEA|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0061621;canonical glycolysis;TAS GO:0000015;phosphopyruvate hydratase complex;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004634;phosphopyruvate hydratase activity;IEA|GO:0016829;lyase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENO3 https://www.uniprot.org/uniprot/P13929 https://hpo.jax.org/app/browse/search?q=ENO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=131370 http://www.informatics.jax.org/searchtool/Search.do?query=ENO3&submit=Quick%0D%3727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENO3 rs238239 0.303914 0.4501 0.4606 0.36 4 11 exonic exonic exonic ENO3 ENO3 ENSG00000108515 nonsynonymous SNV nonsynonymous SNV unknown ENO3:NM_001976:exon5:c.T254C:p.V85A,ENO3:NM_053013:exon5:c.T254C:p.V85A, ENO3:uc002gac.4:exon5:c.T254C:p.V85A,ENO3:uc002gab.4:exon5:c.T254C:p.V85A, UNKNOWN Het;T>C 701;49|33 Het;T>C 745;32|35 Hom;T>C 1483;2|56 N N - 17 48597273 48597273 G T snp intronic MYCBPAP Mycbpap ENSG00000136449 MYCBP associated protein chr17:48585745-48608862 Both AMAP-1 and AMY-1 play roles in spermatogenesis. Chronic renal failure|Kidney Failure, Chronic GO:0007268;chemical synaptic transmission;ISS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007268;chemical synaptic transmission;ISS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MYCBPAP https://www.uniprot.org/uniprot/Q8TBZ2 https://www.ncbi.nlm.nih.gov/omim/?term=609835 http://www.informatics.jax.org/searchtool/Search.do?query=MYCBPAP&submit=Quick%0D%154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYCBPAP rs6504664 0.809105 0 0 1 0 0 intronic intronic intronic MYCBPAP MYCBPAP ENSG00000136449 Na Na Na Na Na Na Het;G>T 141;4|6 Het;G>T 135;9|6 Hom;G>T 234;0|7 N N - 17 48613837 48613837 A G snp nonsynonymous SNV A167G Q56R polar,hydrophilic,neutral polar,hydrophilic,charged(+) EPN3 Epn3 ENSG00000049283 epsin 3 chr17:48609904-48621111 Mice homozygous for a knock-out allele are phenotypically normal. GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0019897;extrinsic component of plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:1990175;EH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPN3 https://www.uniprot.org/uniprot/Q9H201 https://www.ncbi.nlm.nih.gov/omim/?term=607264 http://www.informatics.jax.org/searchtool/Search.do?query=EPN3&submit=Quick%0D%908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPN3 rs3785915 0.800719 0 0.7528 1 0 0 UTR5 exonic exonic EPN3(NM_017957:c.-81A>G) EPN3 ENSG00000049283 Na nonsynonymous SNV unknown Na EPN3:uc010wms.2:exon2:c.A167G:p.Q56R, UNKNOWN Het;A>G 771;16|27 Het;A>G 432;16|16 Hom;A>G 370;0|11 N N - 17 48616114 48616114 C G snp ncRNA_exonic AC021491.2 rs4794158 0.493011 0 0 1 0 0 intronic intronic ncRNA_exonic EPN3 EPN3 ENSG00000250286 Na Na Na Na Na Na Het;C>G 785;23|29 Het;C>G 704;24|27 Hom;C>G 894;0|30 N N - 17 48617829 48617829 G A snp intronic EPN3 Epn3 ENSG00000049283 epsin 3 chr17:48609904-48621111 Mice homozygous for a knock-out allele are phenotypically normal. GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0019897;extrinsic component of plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:1990175;EH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPN3 https://www.uniprot.org/uniprot/Q9H201 https://www.ncbi.nlm.nih.gov/omim/?term=607264 http://www.informatics.jax.org/searchtool/Search.do?query=EPN3&submit=Quick%0D%908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPN3 rs2306002 0.493011 0 0 1 0 0 intronic intronic intronic EPN3 EPN3 ENSG00000049283 Na Na Na Na Na Na Het;G>A 257;13|10 Het;G>A 232;8|9 Hom;G>A 404;0|12 N N - 17 48617903 48617904 CA C indel intronic EPN3 Epn3 ENSG00000049283 epsin 3 chr17:48609904-48621111 Mice homozygous for a knock-out allele are phenotypically normal. GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0019897;extrinsic component of plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:1990175;EH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPN3 https://www.uniprot.org/uniprot/Q9H201 https://www.ncbi.nlm.nih.gov/omim/?term=607264 http://www.informatics.jax.org/searchtool/Search.do?query=EPN3&submit=Quick%0D%908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPN3 rs3214883 0.492812 0 0 1 0 0 intronic intronic intronic EPN3 EPN3 ENSG00000049283 Na Na Na Na Na Na Het;-A 71;6|3 Ref Hom;-A 188;0|5 N N - 17 48617906 48617906 A G snp intronic EPN3 Epn3 ENSG00000049283 epsin 3 chr17:48609904-48621111 Mice homozygous for a knock-out allele are phenotypically normal. GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0019897;extrinsic component of plasma membrane;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:1990175;EH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPN3 https://www.uniprot.org/uniprot/Q9H201 https://www.ncbi.nlm.nih.gov/omim/?term=607264 http://www.informatics.jax.org/searchtool/Search.do?query=EPN3&submit=Quick%0D%908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPN3 rs116108967 0.433506 0 0 1 0 0 intronic intronic intronic EPN3 EPN3 ENSG00000049283 Na Na Na Na Na Na Het;A>G 80;6|3 Ref Hom;A>G 197;0|5 N N - 17 48625828 48625828 C T snp intronic SPATA20 Spata20 ENSG00000006282 spermatogenesis associated 20 chr17:48620419-48633213 Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA20 https://www.uniprot.org/uniprot/Q8TB22 https://www.ncbi.nlm.nih.gov/omim/?term=613939 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20 rs8076470 0.417532 0.5086 0.3878 1 0 0 intronic intronic intronic SPATA20 SPATA20 ENSG00000006282 Na Na Na Na Na Na Het;C>T 4348;140|192 Ref Hom;C>T 8602;2|319 N N - 17 48625928 48625928 C G snp nonsynonymous SNV C310G Q104E polar,hydrophilic,neutral polar,hydrophilic,charged(-) SPATA20 Spata20 ENSG00000006282 spermatogenesis associated 20 chr17:48620419-48633213 Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA20 https://www.uniprot.org/uniprot/Q8TB22 https://www.ncbi.nlm.nih.gov/omim/?term=613939 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20 rs8076632 0.33746 0.4541 0.3264 0.38 5 13 exonic exonic exonic SPATA20 SPATA20 ENSG00000006282 nonsynonymous SNV nonsynonymous SNV unknown SPATA20:NM_001258373:exon4:c.C130G:p.Q44E,SPATA20:NM_022827:exon4:c.C310G:p.Q104E,SPATA20:NM_001258372:exon3:c.C262G:p.Q88E, SPATA20:uc002ird.3:exon4:c.C310G:p.Q104E,SPATA20:uc002ire.3:exon4:c.C130G:p.Q44E,SPATA20:uc002irf.3:exon3:c.C262G:p.Q88E,SPATA20:uc010wmv.1:exon3:c.C262G:p.Q88E, UNKNOWN Het;C>G 2584;93|101 Ref Hom;C>G 4876;1|158 N N - 17 48629458 48629458 A G snp nonsynonymous SNV A1874G K625R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SPATA20 Spata20 ENSG00000006282 spermatogenesis associated 20 chr17:48620419-48633213 Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA20 https://www.uniprot.org/uniprot/Q8TB22 https://www.ncbi.nlm.nih.gov/omim/?term=613939 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20 rs8065903 0.860623 0.8116 0.7864 0.08 1 13 exonic exonic exonic SPATA20 SPATA20 ENSG00000006282 nonsynonymous SNV nonsynonymous SNV unknown SPATA20:NM_001258373:exon14:c.A1694G:p.K565R,SPATA20:NM_022827:exon14:c.A1874G:p.K625R,SPATA20:NM_001258372:exon13:c.A1826G:p.K609R, SPATA20:uc002ird.3:exon14:c.A1874G:p.K625R,SPATA20:uc002ire.3:exon14:c.A1694G:p.K565R,SPATA20:uc002irf.3:exon13:c.A1826G:p.K609R,SPATA20:uc002irc.3:exon15:c.A827G:p.K276R, UNKNOWN Het;A>G 2356;143|102 Het;A>G 1899;127|94 Hom;A>G 6951;0|244 N N - 17 48633738 48633738 T C snp ncRNA_exonic CACNA1G-AS1 rs1460211 0.853834 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CACNA1G-AS1 CACNA1G-AS1 ENSG00000250107 Na Na Na Na Na Na Het;T>C 1897;55|76 Het;T>C 1156;55|54 Hom;T>C 2972;0|106 N N - 17 48633993 48633993 C CTG indel ncRNA_exonic CACNA1G-AS1 rs9303559 0.335264 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CACNA1G-AS1 CACNA1G-AS1 ENSG00000250107 Na Na Na Na Na Na Het;+TG 1543;63|43 Ref Hom;+TG 2042;0|48 N N - 17 48634357 48634357 T C snp ncRNA_exonic CACNA1G-AS1 rs6504675 0.403155 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CACNA1G-AS1 CACNA1G-AS1 ENSG00000250107 Na Na Na Na Na Na Het;T>C 2064;87|87 Ref Hom;T>C 3636;1|123 N N - 17 48634551 48634552 GA G indel ncRNA_exonic CACNA1G-AS1 rs11286085 0.879792 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CACNA1G-AS1 CACNA1G-AS1 ENSG00000250107 Na Na Na Na Na Na Het;-A 1936;56|63 Het;-A 2085;70|68 Hom;-A 5320;0|145 N N - 17 48647011 48647011 T G snp intronic CACNA1G Cacna1g ENSG00000006283 calcium voltage-gated channel subunit alpha1 G chr17:48638429-48704835 Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] Autism; epilepsy; Type 2 diabetes; Electrocardiography Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity. NCAM1 interactions GO:0001508;action potential;IEA|GO:0002027;regulation of heart rate;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010045;response to nickel cation;IEA|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060371;regulation of atrial cardiac muscle cell membrane depolarization;IEA|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;ISS|GO:0086010;membrane depolarization during action potential;IBA|GO:0086015;SA node cell action potential;ISS|GO:0086016;AV node cell action potential;ISS|GO:0086018;SA node cell to atrial cardiac muscle cell signalling;ISS|GO:0086027;AV node cell to bundle of His cell signaling;ISS|GO:0086045;membrane depolarization during AV node cell action potential;ISS|GO:0086046;membrane depolarization during SA node cell action potential;ISS|GO:0086091;regulation of heart rate by cardiac conduction;ISS GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0008332;low voltage-gated calcium channel activity;IDA|GO:0086056;voltage-gated calcium channel activity involved in AV node cell action potential;ISS|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;ISS|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CACNA1G https://www.uniprot.org/uniprot/O43497 https://hpo.jax.org/app/browse/search?q=CACNA1G&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604065 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1G&submit=Quick%0D%395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1G rs12946808 0.551717 0 0 1 0 0 intronic intronic intronic CACNA1G CACNA1G ENSG00000006283 Na Na Na Na Na Na Het;T>G 642;19|20 Ref Hom;T>G 793;0|26 N N - 17 48945506 48945507 AT A indel ncRNA_exonic TOB1-AS1 rs56406873 0.58107 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TOB1-AS1 TOB1-AS1(uc002isy.4:c.*180_*181delinsA) ENSG00000229980 Na Na Na Na Na Na Het;-T 1279;53|89 Ref Hom;-T 1803;12|98 N N - 17 48945638 48945638 G A snp ncRNA_exonic TOB1-AS1 rs12601477 0.612819 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TOB1-AS1 TOB1-AS1(uc002isy.4:c.*312G>A) ENSG00000229980 Na Na Na Na Na Na Het;G>A 1460;92|76 Ref Hom;G>A 3142;0|124 N N - 17 4926607 4926607 C T snp intronic KIF1C Kif1c ENSG00000129250 kinesin family member 1C chr17:4901243-4931696 The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014] SPASTIC ATAXIA 2 AUTOSOMAL RECESSIVE Mice homozygous for a reporter allele are viable, fertile and overtly normal and display normal motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;IBA|GO:0030705;cytoskeleton-dependent intracellular transport;IBA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF1C https://www.uniprot.org/uniprot/O43896 https://hpo.jax.org/app/browse/search?q=KIF1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603060 http://www.informatics.jax.org/searchtool/Search.do?query=KIF1C&submit=Quick%0D%6236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1C rs346827 0.308706 0 0 1 0 0 intronic intronic intronic KIF1C KIF1C ENSG00000129250 Na Na Na Na Na Na Het;C>T 130;4|5 Het;C>T 31;3|2 Hom;C>T 73;1|3 N N - 17 49281133 49281133 G A snp intronic MBTD1 Mbtd1 ENSG00000011258 mbt domain containing 1 chr17:49254786-49337524 Mice homozygous for a knock-out allele exhibit neonatal lethality and severe abnormalities in hematopoietic stem cell function and skeletal formation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0048706;embryonic skeletal system development;IEA GO:0005634;nucleus;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MBTD1 https://www.uniprot.org/uniprot/Q05BQ5 http://www.informatics.jax.org/searchtool/Search.do?query=MBTD1&submit=Quick%0D%549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBTD1 rs17574235 0.425519 0.3690 0.4745 1 0 0 intronic intronic intronic MBTD1 MBTD1 ENSG00000011258 Na Na Na Na Na Na Het;G>A 1938;83|91 Het;G>A 1076;61|58 Hom;G>A 2860;0|106 N N - 17 49350802 49350802 A C snp synonymous SNV A702C G234G aliphatic,neutral aliphatic,neutral UTP18 Utp18 ENSG00000011260 UTP18, small subunit processome component chr17:49337889-49375297 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0032040;small-subunit processome;IBA|GO:0034388;Pwp2p-containing subcomplex of 90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UTP18 https://www.uniprot.org/uniprot/Q9Y5J1 https://www.ncbi.nlm.nih.gov/omim/?term=612816 http://www.informatics.jax.org/searchtool/Search.do?query=UTP18&submit=Quick%0D%550ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP18 rs2318789 0.426118 0.3737 0.4553 1 0 0 exonic exonic exonic UTP18 UTP18 ENSG00000011260 synonymous SNV synonymous SNV unknown UTP18:NM_016001:exon5:c.A702C:p.G234G, UTP18:uc002its.3:exon5:c.A702C:p.G234G, UNKNOWN Het;A>C 1516;60|73 Het;A>C 1224;33|54 Hom;A>C 1763;0|67 N N - 17 49371230 49371230 G C snp intronic UTP18 Utp18 ENSG00000011260 UTP18, small subunit processome component chr17:49337889-49375297 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0032040;small-subunit processome;IBA|GO:0034388;Pwp2p-containing subcomplex of 90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UTP18 https://www.uniprot.org/uniprot/Q9Y5J1 https://www.ncbi.nlm.nih.gov/omim/?term=612816 http://www.informatics.jax.org/searchtool/Search.do?query=UTP18&submit=Quick%0D%550ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP18 rs12940196 0.423323 0.3744 0.4555 1 0 0 intronic intronic intronic UTP18 UTP18 ENSG00000011260 Na Na Na Na Na Na Het;G>C 473;34|19 Het;G>C 1037;23|38 Hom;G>C 1212;0|39 N N - 17 49371505 49371505 C G snp intronic UTP18 Utp18 ENSG00000011260 UTP18, small subunit processome component chr17:49337889-49375297 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0032040;small-subunit processome;IBA|GO:0034388;Pwp2p-containing subcomplex of 90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UTP18 https://www.uniprot.org/uniprot/Q9Y5J1 https://www.ncbi.nlm.nih.gov/omim/?term=612816 http://www.informatics.jax.org/searchtool/Search.do?query=UTP18&submit=Quick%0D%550ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP18 rs917654 0.676917 0 0 1 0 0 intronic intronic intronic UTP18 UTP18 ENSG00000011260 Na Na Na Na Na Na Het;C>G 377;26|15 Het;C>G 705;28|25 Hom;C>G 2292;0|70 N N - 17 505227 505227 G C snp intronic VPS53 Vps53 ENSG00000283883 VPS53, GARP complex subunit chr17:411908-624957 This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008] Mental Competency; HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E12.5 with trophoblast cell hyperplasia. http://www.genecards.org/index.php?path=/Search/keyword/VPS53 https://www.uniprot.org/uniprot/Q5VIR6 https://hpo.jax.org/app/browse/search?q=VPS53&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615850 http://www.informatics.jax.org/searchtool/Search.do?query=VPS53&submit=Quick%0D%22836ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS53 rs7225041 0.350639 0 0 1 0 0 intronic intronic intronic VPS53 VPS53 ENSG00000141252 Na Na Na Na Na Na Het;G>C 412;19|16 Het;G>C 342;21|16 Hom;G>C 1468;0|53 N N - 17 50935293 50935293 C G snp intergenic CA10 Car10 ENSG00000154975 carbonic anhydrase 10 chr17:49707674-50237377 This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Hip; Cholesterol; Conduct Disorder; Tobacco Use Disorder; Stroke; Obesity; Heart Rate; C-Reactive Protein; Carotid Arteries; Osteoporosis; Creatinine; Body Mass Index; Myocardial Infarction; Uric Acid; Echocardiography; Celiac Disease| GO:0007420;brain development;NAS GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CA10 https://www.uniprot.org/uniprot/Q9NS85 https://www.ncbi.nlm.nih.gov/omim/?term=604642 http://www.informatics.jax.org/searchtool/Search.do?query=CA10&submit=Quick%0D%9826ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA10 rs12949188 0.36861 0 0 1 0 0 intergenic intergenic intergenic CA10(dist=697916),C17orf112(dist=127587) CA10(dist=697916),C17orf112(dist=127587) ENSG00000263317(dist=322232),ENSG00000226364(dist=4188) Na Na Na Na Na Na Het;C>G 151;6|6 Het;C>G 76;4|3 Hom;C>G 150;0|5 N N - 17 51900262 51900262 G A snp UTR5 -133G>A KIF2B Kif2b ENSG00000141200 kinesin family member 2B chr17:51900239-51902573 obesity Male mice homozygous for a mutation are viable and show normal fertility. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007019;microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051983;regulation of chromosome segregation;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF2B https://www.uniprot.org/uniprot/Q8N4N8 https://www.ncbi.nlm.nih.gov/omim/?term=615142 http://www.informatics.jax.org/searchtool/Search.do?query=KIF2B&submit=Quick%0D%8129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF2B rs12939320 0.36242 0 0 1 0 0 UTR5 UTR5 UTR5 KIF2B(NM_032559:c.-133G>A) KIF2B(uc002iua.2:c.-133G>A) ENSG00000141200(ENST00000268919:c.-133G>A) Na Na Na Na Na Na Het;G>A 103;5|4 Ref Hom;G>A 130;0|5 N N - 17 52652385 52652385 C T snp intergenic KIF2B Kif2b ENSG00000141200 kinesin family member 2B chr17:51900239-51902573 obesity Male mice homozygous for a mutation are viable and show normal fertility. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007019;microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051983;regulation of chromosome segregation;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF2B https://www.uniprot.org/uniprot/Q8N4N8 https://www.ncbi.nlm.nih.gov/omim/?term=615142 http://www.informatics.jax.org/searchtool/Search.do?query=KIF2B&submit=Quick%0D%8129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF2B rs2099927 0.484425 0 0 1 0 0 intergenic intergenic intergenic KIF2B(dist=749812),TOM1L1(dist=325667) KIF2B(dist=749812),7SK(dist=195925) ENSG00000261965(dist=96856),ENSG00000263199(dist=127912) Na Na Na Na Na Na Het;C>T 364;36|21 Ref Hom;C>T 1969;0|74 N N - 17 52652404 52652404 T A snp intergenic KIF2B Kif2b ENSG00000141200 kinesin family member 2B chr17:51900239-51902573 obesity Male mice homozygous for a mutation are viable and show normal fertility. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007019;microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051983;regulation of chromosome segregation;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF2B https://www.uniprot.org/uniprot/Q8N4N8 https://www.ncbi.nlm.nih.gov/omim/?term=615142 http://www.informatics.jax.org/searchtool/Search.do?query=KIF2B&submit=Quick%0D%8129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF2B rs9910744 0.483826 0 0 1 0 0 intergenic intergenic intergenic KIF2B(dist=749831),TOM1L1(dist=325648) KIF2B(dist=749831),7SK(dist=195906) ENSG00000261965(dist=96875),ENSG00000263199(dist=127893) Na Na Na Na Na Na Het;T>A 563;41|28 Ref Hom;T>A 2344;0|91 N N - 17 52652421 52652421 C T snp intergenic KIF2B Kif2b ENSG00000141200 kinesin family member 2B chr17:51900239-51902573 obesity Male mice homozygous for a mutation are viable and show normal fertility. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007019;microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051983;regulation of chromosome segregation;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF2B https://www.uniprot.org/uniprot/Q8N4N8 https://www.ncbi.nlm.nih.gov/omim/?term=615142 http://www.informatics.jax.org/searchtool/Search.do?query=KIF2B&submit=Quick%0D%8129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF2B rs66538172 0.170327 0 0 1 0 0 intergenic intergenic intergenic KIF2B(dist=749848),TOM1L1(dist=325631) KIF2B(dist=749848),7SK(dist=195889) ENSG00000261965(dist=96892),ENSG00000263199(dist=127876) Na Na Na Na Na Na Het;C>T 542;52|30 Ref Hom;C>T 2892;0|108 N N - 17 53014232 53014232 A ATTAAG indel intronic TOM1L1 Tom1l1 ENSG00000141198 target of myb1 like 1 membrane trafficking protein chr17:52976748-53039310 GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;IDA|GO:0015031;protein transport;IEA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;NAS|GO:0045839;negative regulation of mitotic nuclear division;IDA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0030276;clathrin binding;IDA|GO:0030295;protein kinase activator activity;IEA|GO:0043130;ubiquitin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/TOM1L1 https://www.uniprot.org/uniprot/O75674 https://www.ncbi.nlm.nih.gov/omim/?term=604701 http://www.informatics.jax.org/searchtool/Search.do?query=TOM1L1&submit=Quick%0D%8128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOM1L1 rs3078042 0 0 0 1 0 0 intronic intronic intronic TOM1L1 TOM1L1 ENSG00000141198 Na Na Na Na Na Na Het;+TTAAG 296;1|8 Ref Hom;+TTAAG 233;0|6 N N - 17 53076799 53076799 G A snp nonsynonymous SNV G43A G15R aliphatic,neutral polar,hydrophilic,charged(+) STXBP4 Stxbp4 ENSG00000166263 syntaxin binding protein 4 chr17:53046088-53241646 Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP4 https://www.ncbi.nlm.nih.gov/omim/?term=610415 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4 rs1156287 0.852436 0.7809 0.7803 0.15 2 13 exonic exonic exonic STXBP4 STXBP4 ENSG00000166263 nonsynonymous SNV nonsynonymous SNV unknown STXBP4:NM_178509:exon5:c.G274A:p.G92R, STXBP4:uc010dcc.1:exon4:c.G43A:p.G15R,STXBP4:uc002iuf.1:exon5:c.G274A:p.G92R,STXBP4:uc010dcd.1:exon5:c.G274A:p.G92R, UNKNOWN Het;G>A 1219;53|56 Ref Hom;G>A 3286;2|121 N N - 17 53076986 53076986 G A snp splicing 57-1G>A STXBP4 Stxbp4 ENSG00000166263 syntaxin binding protein 4 chr17:53046088-53241646 Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP4 https://www.ncbi.nlm.nih.gov/omim/?term=610415 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4 rs11658717 0.771366 0.6926 0.7559 0.25 1 4 intronic splicing splicing STXBP4 STXBP4(uc010dcc.1:exon5:c.57-1G>A) ENSG00000166263(ENST00000299341:exon6:c.57-1G>A,ENST00000398391:exon5:c.57-1G>A) Na Na Na Na Na Na Het;G>A 614;22|25 Ref Hom;G>A 1856;0|68 N N - 17 53093965 53093965 G C snp intronic STXBP4 Stxbp4 ENSG00000166263 syntaxin binding protein 4 chr17:53046088-53241646 Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP4 https://www.ncbi.nlm.nih.gov/omim/?term=610415 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4 rs2787501 0.703474 0 0 1 0 0 intronic intronic intronic STXBP4 STXBP4 ENSG00000166263 Na Na Na Na Na Na Het;G>C 38;2|2 Ref Hom;G>C 174;0|5 N N - 17 53111383 53111383 A C snp intronic STXBP4 Stxbp4 ENSG00000166263 syntaxin binding protein 4 chr17:53046088-53241646 Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP4 https://www.ncbi.nlm.nih.gov/omim/?term=610415 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4 rs1484776 0.78135 0 0 1 0 0 intronic intronic intronic STXBP4 STXBP4 ENSG00000166263 Na Na Na Na Na Na Het;A>C 303;5|9 Ref Hom;A>C 175;0|5 N N - 17 53828706 53828706 C G snp UTR5 -16065C>G PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs890488 0.837061 0 0 1 0 0 UTR5 UTR5 UTR5 PCTP(NM_001102402:c.-16065C>G) PCTP(uc002ium.4:c.-16065C>G) ENSG00000141179(ENST00000417982:c.-16065C>G) Na Na Na Na Na Na Het;C>G 50;1|3 Ref Hom;C>G 161;0|7 N N - 17 53844833 53844834 CT C indel intronic PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs57156382 0.932708 0 0.9293 1 0 0 intronic intronic intronic PCTP PCTP ENSG00000141179 Na Na Na Na Na Na Het;-T 1907;46|51 Het;-T 761;73|45 Hom;-T 3033;0|118 N N - 17 53844847 53844847 C T snp intronic PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs35430620 0.619609 0.6154 0.7549 1 0 0 intronic intronic intronic PCTP PCTP ENSG00000141179 Na Na Na Na Na Na Het;C>T 1094;49|48 Het;C>T 724;71|37 Hom;C>T 2954;0|113 N N - 17 53851071 53851071 A G snp unknown PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs2960063 0.777955 0.8082 0.9078 1 0 0 intronic intronic exonic PCTP PCTP ENSG00000141179 Na Na unknown Na Na UNKNOWN Het;A>G 1941;49|50 Het;A>G 1921;58|50 Hom;A>G 3910;0|86 N N - 17 53851078 53851078 T C snp UTR3 *6T>C PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs2912558 0.777955 0.8082 0.9073 1 0 0 intronic intronic UTR3 PCTP PCTP ENSG00000141179(ENST00000417982:c.*6T>C) Na Na Na Na Na Na Het;T>C 2008;54|54 Het;T>C 1943;67|54 Hom;T>C 4165;0|99 N N - 17 53851228 53851228 C T snp synonymous SNV C267T I89I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs2960062 0.777955 0.8082 0.9098 1 0 0 exonic exonic exonic PCTP PCTP ENSG00000141179 synonymous SNV synonymous SNV unknown PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_021213:exon4:c.C483T:p.I161I, PCTP:uc002iul.4:exon4:c.C483T:p.I161I,PCTP:uc002ium.4:exon4:c.C267T:p.I89I, UNKNOWN Het;C>T 1375;78|66 Het;C>T 1485;79|72 Hom;C>T 3004;0|112 N N - 17 53852853 53852853 A G snp UTR3 *149A>G PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs2960060 0.713059 0 0 1 0 0 intronic intronic UTR3 PCTP PCTP ENSG00000141179(ENST00000576183:c.*149A>G) Na Na Na Na Na Na Het;A>G 353;18|12 Het;A>G 196;6|7 Hom;A>G 768;0|19 N N - 17 53852915 53852915 A T snp UTR3 *211A>T PCTP Pctp ENSG00000141179 phosphatidylcholine transfer protein chr17:53828340-53920191 bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; chronic obstructive pulmonary disease; Marijuana Abuse; lung cancer; Body Composition Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. Mitochondrial Fatty Acid Beta-Oxidation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008525;phosphatidylcholine transporter activity;IDA|GO:0031210;phosphatidylcholine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCTP https://www.uniprot.org/uniprot/Q9UKL6 https://www.ncbi.nlm.nih.gov/omim/?term=606055 http://www.informatics.jax.org/searchtool/Search.do?query=PCTP&submit=Quick%0D%8126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCTP rs2960059 0.713059 0 0 1 0 0 intronic intronic UTR3 PCTP PCTP ENSG00000141179(ENST00000576183:c.*211A>T) Na Na Na Na Na Na Het;A>T 57;6|3 Het;A>T 131;4|5 Hom;A>T 313;0|9 N N - 17 54961660 54961660 A G snp ncRNA_exonic MTVR2 rs2525990 0.472843 0 0 1 0 0 ncRNA_exonic ncRNA_exonic downstream MTVR2 MTVR2 ENSG00000262408 Na Na Na Na Na Na Het;A>G 2291;79|97 Het;A>G 1422;55|62 Hom;A>G 5186;0|177 N N - 17 55055444 55055444 A ACCCGCAGGCCCCGCCCCCGC indel upstream SCPEP1 Scpep1 ENSG00000121064 serine carboxypeptidase 1 chr17:55055466-55084129 Mice homozygous for a gene trapped allele exhibit no abnormal phenotype. Mice homozygous for a knock-out allele exhibit abnormal blood vessel healing. GO:0006508;proteolysis;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0097755;positive regulation of blood vessel diameter;IEA GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCPEP1 https://www.uniprot.org/uniprot/Q9HB40 http://www.informatics.jax.org/searchtool/Search.do?query=SCPEP1&submit=Quick%0D%5285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCPEP1 Na 0 0 0 1 0 0 upstream upstream upstream SCPEP1 SCPEP1 ENSG00000121064 Na Na Na Na Na Na Het;+CCCGCAGGCCCCGCCCCCGC 68;6|2 Ref Hom;+CCCGCAGGCCCCGCCCCCGC 60;0|2 N N - 17 55058417 55058417 A G snp intronic SCPEP1 Scpep1 ENSG00000121064 serine carboxypeptidase 1 chr17:55055466-55084129 Mice homozygous for a gene trapped allele exhibit no abnormal phenotype. Mice homozygous for a knock-out allele exhibit abnormal blood vessel healing. GO:0006508;proteolysis;IEA|GO:0042573;retinoic acid metabolic process;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0097755;positive regulation of blood vessel diameter;IEA GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCPEP1 https://www.uniprot.org/uniprot/Q9HB40 http://www.informatics.jax.org/searchtool/Search.do?query=SCPEP1&submit=Quick%0D%5285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCPEP1 rs3095500 0.179513 0.1805 0.1525 1 0 0 intronic intronic intronic SCPEP1 SCPEP1 ENSG00000121064 Na Na Na Na Na Na Het;A>G 974;53|43 Ref Hom;A>G 2458;0|87 N N - 17 56247101 56247101 C A snp nonsynonymous SNV C85A L29I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR4D2 Olfr463 ENSG00000255713 olfactory receptor family 4 subfamily D member 2 chr17:56247017-56247940 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR4D2 http://www.informatics.jax.org/searchtool/Search.do?query=OR4D2&submit=Quick%0D%20153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR4D2 rs60994383 0.235224 0.2714 0.2269 0.08 1 13 exonic exonic exonic OR4D2 OR4D2 ENSG00000255713 nonsynonymous SNV nonsynonymous SNV unknown OR4D2:NM_001004707:exon1:c.C85A:p.L29I, OR4D2:uc010wnp.2:exon1:c.C85A:p.L29I, UNKNOWN Het;C>A 1479;54|61 Ref Hom;C>A 2704;0|98 N N - 17 56270121 56270121 T C snp UTR5 -87T>C EPX Epx ENSG00000121053 eosinophil peroxidase chr17:56270098-56282535 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] esophageal adenocarcinoma Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. Neutrophil degranulation GO:0002215;defense response to nematode;IEA|GO:0006952;defense response;IEA|GO:0006979;response to oxidative stress;IEA|GO:0032693;negative regulation of interleukin-10 production;IEA|GO:0032714;negative regulation of interleukin-5 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072677;eosinophil migration;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPX https://www.uniprot.org/uniprot/P11678 https://www.ncbi.nlm.nih.gov/omim/?term=131399 http://www.informatics.jax.org/searchtool/Search.do?query=EPX&submit=Quick%0D%5281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPX rs12602891 0.373203 0 0 1 0 0 UTR5 UTR5 UTR5 EPX(NM_000502:c.-87T>C) EPX(uc002ivq.3:c.-87T>C) ENSG00000121053(ENST00000225371:c.-87T>C) Na Na Na Na Na Na Het;T>C 335;13|12 Het;T>C 551;12|20 Hom;T>C 847;0|27 N N - 17 56271060 56271060 T C snp intronic EPX Epx ENSG00000121053 eosinophil peroxidase chr17:56270098-56282535 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] esophageal adenocarcinoma Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. Neutrophil degranulation GO:0002215;defense response to nematode;IEA|GO:0006952;defense response;IEA|GO:0006979;response to oxidative stress;IEA|GO:0032693;negative regulation of interleukin-10 production;IEA|GO:0032714;negative regulation of interleukin-5 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072677;eosinophil migration;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPX https://www.uniprot.org/uniprot/P11678 https://www.ncbi.nlm.nih.gov/omim/?term=131399 http://www.informatics.jax.org/searchtool/Search.do?query=EPX&submit=Quick%0D%5281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPX rs11079340 0.221845 0.3039 0.2902 1 0 0 intronic intronic intronic EPX EPX ENSG00000121053 Na Na Na Na Na Na Het;T>C 1779;78|73 Het;T>C 1298;84|62 Hom;T>C 3710;1|137 N N - 17 56271094 56271094 G C snp nonsynonymous SNV G366C Q122H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) EPX Epx ENSG00000121053 eosinophil peroxidase chr17:56270098-56282535 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] esophageal adenocarcinoma Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. Neutrophil degranulation GO:0002215;defense response to nematode;IEA|GO:0006952;defense response;IEA|GO:0006979;response to oxidative stress;IEA|GO:0032693;negative regulation of interleukin-10 production;IEA|GO:0032714;negative regulation of interleukin-5 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072677;eosinophil migration;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPX https://www.uniprot.org/uniprot/P11678 https://www.ncbi.nlm.nih.gov/omim/?term=131399 http://www.informatics.jax.org/searchtool/Search.do?query=EPX&submit=Quick%0D%5281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPX rs11652709 0.213658 0.2922 0.2876 0.54 7 13 exonic exonic exonic EPX EPX ENSG00000121053 nonsynonymous SNV nonsynonymous SNV unknown EPX:NM_000502:exon4:c.G366C:p.Q122H, EPX:uc002ivq.3:exon4:c.G366C:p.Q122H, UNKNOWN Het;G>C 2162;85|90 Het;G>C 1912;101|87 Hom;G>C 4507;1|169 N N - 17 56271497 56271497 A G snp intronic EPX Epx ENSG00000121053 eosinophil peroxidase chr17:56270098-56282535 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] esophageal adenocarcinoma Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. Neutrophil degranulation GO:0002215;defense response to nematode;IEA|GO:0006952;defense response;IEA|GO:0006979;response to oxidative stress;IEA|GO:0032693;negative regulation of interleukin-10 production;IEA|GO:0032714;negative regulation of interleukin-5 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072677;eosinophil migration;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPX https://www.uniprot.org/uniprot/P11678 https://www.ncbi.nlm.nih.gov/omim/?term=131399 http://www.informatics.jax.org/searchtool/Search.do?query=EPX&submit=Quick%0D%5281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPX rs10853004 0.218051 0.2905 0.2910 1 0 0 intronic intronic intronic EPX EPX ENSG00000121053 Na Na Na Na Na Na Het;A>G 402;17|17 Het;A>G 440;8|18 Hom;A>G 751;0|27 N N - 17 56272390 56272390 A G snp synonymous SNV A660G R220R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) EPX Epx ENSG00000121053 eosinophil peroxidase chr17:56270098-56282535 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] esophageal adenocarcinoma Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. Neutrophil degranulation GO:0002215;defense response to nematode;IEA|GO:0006952;defense response;IEA|GO:0006979;response to oxidative stress;IEA|GO:0032693;negative regulation of interleukin-10 production;IEA|GO:0032714;negative regulation of interleukin-5 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0072677;eosinophil migration;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPX https://www.uniprot.org/uniprot/P11678 https://www.ncbi.nlm.nih.gov/omim/?term=131399 http://www.informatics.jax.org/searchtool/Search.do?query=EPX&submit=Quick%0D%5281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPX rs2240815 0.501398 0.5555 0.4639 1 0 0 exonic exonic exonic EPX EPX ENSG00000121053 synonymous SNV synonymous SNV unknown EPX:NM_000502:exon6:c.A660G:p.R220R, EPX:uc002ivq.3:exon6:c.A660G:p.R220R, UNKNOWN Het;A>G 1563;146|73 Het;A>G 2519;132|121 Hom;A>G 4127;0|148 N N - 17 56290334 56290334 T C snp intronic MKS1 Mks1 ENSG00000011143 Meckel syndrome, type 1 chr17:56282803-56296966 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Meckel-Gruber syndrome|Abnormalities, Multiple|Congenital Abnormalities|Polydactyly|Syndrome; Meckel syndrome Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology. Anchoring of the basal body to the plasma membrane GO:0001843;neural tube closure;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0044458;motile cilium assembly;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0060271;cilium assembly;IMP|GO:0060322;head development;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0061009;common bile duct development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1901620;regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA|GO:2000095;regulation of Wnt signaling pathway, planar cell polarity pathway;IEA GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036038;MKS complex;ISS|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MKS1 https://www.uniprot.org/uniprot/Q9NXB0 https://hpo.jax.org/app/browse/search?q=MKS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609883 http://www.informatics.jax.org/searchtool/Search.do?query=MKS1&submit=Quick%0D%545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MKS1 rs3826300 0.480831 0.5558 0.4466 1 0 0 intronic intronic intronic MKS1 MKS1 ENSG00000011143 Na Na Na Na Na Na Het;T>C 263;32|15 Het;T>C 324;19|15 Hom;T>C 664;0|24 N N - 17 56290556 56290556 A G snp intronic MKS1 Mks1 ENSG00000011143 Meckel syndrome, type 1 chr17:56282803-56296966 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Meckel-Gruber syndrome|Abnormalities, Multiple|Congenital Abnormalities|Polydactyly|Syndrome; Meckel syndrome Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology. Anchoring of the basal body to the plasma membrane GO:0001843;neural tube closure;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0044458;motile cilium assembly;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0060271;cilium assembly;IMP|GO:0060322;head development;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0061009;common bile duct development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1901620;regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA|GO:2000095;regulation of Wnt signaling pathway, planar cell polarity pathway;IEA GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036038;MKS complex;ISS|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MKS1 https://www.uniprot.org/uniprot/Q9NXB0 https://hpo.jax.org/app/browse/search?q=MKS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609883 http://www.informatics.jax.org/searchtool/Search.do?query=MKS1&submit=Quick%0D%545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MKS1 rs3744105 0.480631 0 0 1 0 0 intronic intronic intronic MKS1 MKS1 ENSG00000011143 Na Na Na Na Na Na Het;A>G 43;4|3 Ref Hom;A>G 273;0|8 N N - 17 56293960 56293960 T C snp intronic MKS1 Mks1 ENSG00000011143 Meckel syndrome, type 1 chr17:56282803-56296966 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Meckel-Gruber syndrome|Abnormalities, Multiple|Congenital Abnormalities|Polydactyly|Syndrome; Meckel syndrome Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology. Anchoring of the basal body to the plasma membrane GO:0001843;neural tube closure;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0010669;epithelial structure maintenance;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0044458;motile cilium assembly;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0060271;cilium assembly;IMP|GO:0060322;head development;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0061009;common bile duct development;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1901620;regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:1905515;non-motile cilium assembly;IEA|GO:1990403;embryonic brain development;IEA|GO:2000095;regulation of Wnt signaling pathway, planar cell polarity pathway;IEA GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036038;MKS complex;ISS|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MKS1 https://www.uniprot.org/uniprot/Q9NXB0 https://hpo.jax.org/app/browse/search?q=MKS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609883 http://www.informatics.jax.org/searchtool/Search.do?query=MKS1&submit=Quick%0D%545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MKS1 rs7225148 0.291733 0 0 1 0 0 intronic intronic intronic MKS1 MKS1 ENSG00000011143 Na Na Na Na Na Na Het;T>C 370;13|16 Ref Hom;T>C 627;0|21 N N - 17 56327999 56327999 A G snp stoploss A797G X266W aromatic,hydrophobic,neutral LPO Lpo ENSG00000167419 lactoperoxidase chr17:56295909-56345879 This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006979;response to oxidative stress;IEA|GO:0018969;thiocyanate metabolic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0036393;thiocyanate peroxidase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPO https://www.ncbi.nlm.nih.gov/omim/?term=150205 http://www.informatics.jax.org/searchtool/Search.do?query=LPO&submit=Quick%0D%12013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPO rs7208924 0.348842 0.3829 0.3465 1 0 0 intronic exonic intronic LPO LPO ENSG00000167419 Na stoploss Na Na LPO:uc010dco.2:exon7:c.A797G:p.X266W,LPO:uc010wnr.1:exon5:c.A548G:p.X183W, Na Het;A>G 1175;40|47 Het;A>G 1064;37|48 Hom;A>G 2720;0|99 N N - 17 56344656 56344656 A G snp intronic LPO Lpo ENSG00000167419 lactoperoxidase chr17:56295909-56345879 This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Occupational Diseases GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006979;response to oxidative stress;IEA|GO:0018969;thiocyanate metabolic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0042744;hydrogen peroxide catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0036393;thiocyanate peroxidase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPO https://www.ncbi.nlm.nih.gov/omim/?term=150205 http://www.informatics.jax.org/searchtool/Search.do?query=LPO&submit=Quick%0D%12013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPO rs8178407 0.469449 0 0 1 0 0 intronic intronic intronic LPO LPO ENSG00000167419 Na Na Na Na Na Na Het;A>G 469;17|17 Het;A>G 618;12|21 Hom;A>G 744;0|22 N N - 17 56423114 56423114 C T snp ncRNA_intronic BZRAP1-AS1 rs8263 0.352037 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic BZRAP1-AS1 BZRAP1-AS1 ENSG00000265148 Na Na Na Na Na Na Het;C>T 2002;110|88 Het;C>T 1876;81|86 Hom;C>T 4175;2|148 N N - 17 56424710 56424710 T C snp ncRNA_intronic BZRAP1-AS1 rs757485 0.478634 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic BZRAP1-AS1 BZRAP1-AS1 ENSG00000265148 Na Na Na Na Na Na Het;T>C 159;5|6 Het;T>C 116;5|4 Hom;T>C 217;0|6 N N - 17 56429764 56429764 G A snp ncRNA_exonic BZRAP1-AS1 rs2632519 0.378794 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic BZRAP1-AS1 BZRAP1-AS1 ENSG00000265148 Na Na Na Na Na Na Het;G>A 689;24|29 Het;G>A 204;21|10 Hom;G>A 886;0|28 N N - 17 56659018 56659018 C T snp nonsynonymous SNV G3245A G1082D aliphatic,neutral polar,hydrophilic,charged(-) TEX14 Tex14 ENSG00000121101 testis expressed 14, intercellular bridge forming factor chr17:56634039-56769416 The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] breast cancer ; Azoospermia|Oligospermia Males homozygous for a targeted allele are infertile due to spermatogenic failure. GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007094;mitotic spindle assembly checkpoint;IBA|GO:0007140;male meiotic nuclear division;IBA|GO:0008608;attachment of spindle microtubules to kinetochore;IBA|GO:0032091;negative regulation of protein binding;IEA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0043063;intercellular bridge organization;IBA|GO:0051301;cell division;IEA|GO:0051306;mitotic sister chromatid separation;ISS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IBA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005623;cell;ISS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0030496;midbody;IBA|GO:0045171;intercellular bridge;IBA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEX14 https://www.uniprot.org/uniprot/Q8IWB6 https://hpo.jax.org/app/browse/search?q=TEX14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605792 http://www.informatics.jax.org/searchtool/Search.do?query=TEX14&submit=Quick%0D%5290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEX14 rs6503870 0.607428 0.6529 0.5923 0.08 1 13 exonic exonic exonic TEX14 TEX14 ENSG00000121101 nonsynonymous SNV nonsynonymous SNV unknown TEX14:NM_198393:exon20:c.G3245A:p.G1082D,TEX14:NM_001201457:exon20:c.G3263A:p.G1088D, TEX14:uc002iwr.2:exon20:c.G3245A:p.G1082D,TEX14:uc010dcz.2:exon20:c.G3263A:p.G1088D, UNKNOWN Het;C>T 859;47|42 Het;C>T 910;77|50 Hom;C>T 2435;0|94 N N - 17 56693799 56693799 C CT indel intronic TEX14 Tex14 ENSG00000121101 testis expressed 14, intercellular bridge forming factor chr17:56634039-56769416 The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] breast cancer ; Azoospermia|Oligospermia Males homozygous for a targeted allele are infertile due to spermatogenic failure. GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007094;mitotic spindle assembly checkpoint;IBA|GO:0007140;male meiotic nuclear division;IBA|GO:0008608;attachment of spindle microtubules to kinetochore;IBA|GO:0032091;negative regulation of protein binding;IEA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0043063;intercellular bridge organization;IBA|GO:0051301;cell division;IEA|GO:0051306;mitotic sister chromatid separation;ISS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IBA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005623;cell;ISS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0030496;midbody;IBA|GO:0045171;intercellular bridge;IBA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEX14 https://www.uniprot.org/uniprot/Q8IWB6 https://hpo.jax.org/app/browse/search?q=TEX14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605792 http://www.informatics.jax.org/searchtool/Search.do?query=TEX14&submit=Quick%0D%5290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEX14 rs11454189 0.484026 0 0 1 0 0 intronic intronic intronic TEX14 TEX14 ENSG00000121101 Na Na Na Na Na Na Het;+T 36;5|4 Ref Hom;+T 128;1|8 N N - 17 56833457 56833457 G GGAACCC indel nonframeshift substitution 99_99delinsGGAACCC PPM1E Ppm1e ENSG00000175175 protein phosphatase, Mg2+/Mn2+ dependent 1E chr17:56833230-57058983 This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] breast cancer ; Cognitive test performance; Neuropsychological Tests GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0043234;protein complex;IDA GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPM1E http://www.informatics.jax.org/searchtool/Search.do?query=PPM1E&submit=Quick%0D%13649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1E rs201186780 0.388978 0.5955 0.5312 1 0 0 exonic exonic exonic PPM1E PPM1E ENSG00000175175 nonframeshift substitution nonframeshift substitution unknown PPM1E:NM_014906:exon1:c.99_99delinsGGAACCC, PPM1E:uc002iwx.4:exon1:c.99_99delinsGGAACCC, UNKNOWN Het;+GAACCC 3178;104|82 Het;+GAACCC 3923;66|99 Hom;+GAACCC 7043;2|162 N N - 17 56833997 56834015 GCCCACGCCCGCCTCGGCC G indel intronic PPM1E Ppm1e ENSG00000175175 protein phosphatase, Mg2+/Mn2+ dependent 1E chr17:56833230-57058983 This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] breast cancer ; Cognitive test performance; Neuropsychological Tests GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0051496;positive regulation of stress fiber assembly;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0043234;protein complex;IDA GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPM1E http://www.informatics.jax.org/searchtool/Search.do?query=PPM1E&submit=Quick%0D%13649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1E rs145010411 0 0 0 1 0 0 intronic intronic intronic PPM1E PPM1E ENSG00000175175 Na Na Na Na Na Na Het;-CCCACGCCCGCCTCGGCC 38;3|2 Het;-CCCACGCCCGCCTCGGCC 35;4|2 Hom;-CCCACGCCCGCCTCGGCC 144;0|4 N N - 17 57184162 57184162 A C snp ncRNA_exonic BC017255 rs7503190 0.611821 0 0 1 0 0 UTR5 ncRNA_exonic ncRNA_exonic TRIM37(NM_001005207:c.-340T>G,NM_015294:c.-340T>G) BC017255 ENSG00000224738 Na Na Na Na Na Na Het;A>C 1328;63|63 Het;A>C 1097;42|49 Hom;A>C 2577;2|96 N N - 17 59471082 59471082 A G snp ncRNA_exonic TBX2-AS1 rs917533 0.881589 0 0 1 0 0 ncRNA_exonic downstream ncRNA_exonic TBX2-AS1 BCAS3 ENSG00000267280 Na Na Na Na Na Na Het;A>G 1391;95|62 Het;A>G 1451;71|63 Hom;A>G 2870;0|102 N N - 17 59480332 59480332 A AGAGAGAGAGAGAGAGAGACAG indel ncRNA_intronic TBX2-AS1 Na 0 0 0 1 0 0 intronic intronic ncRNA_intronic TBX2 TBX2 ENSG00000267280 Na Na Na Na Na Na Het;+GAGAGAGAGAGAGAGAGACAG 328;18|7 Ref Hom;+GAGAGAGAGAGAGAGAGACAG 637;0|8 N N - 17 59544863 59544863 G A snp intronic TBX4 Tbx4 ENSG00000121075 T-box 4 chr17:59529765-59562471 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008] height; breast cancer ; Height; Cleft Lip|Cleft Palate; Bone Mineral Density; Hip Dislocation, Congenital|Joint Instability Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth. GO:0001525;angiogenesis;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035108;limb morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;IMP GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBX4 https://www.uniprot.org/uniprot/P57082 https://hpo.jax.org/app/browse/search?q=TBX4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601719 http://www.informatics.jax.org/searchtool/Search.do?query=TBX4&submit=Quick%0D%5289ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX4 rs758596 0.347843 0.3147 0.2802 1 0 0 intronic intronic intronic TBX4 TBX4 ENSG00000121075 Na Na Na Na Na Na Het;G>A 900;24|34 Ref Hom;G>A 1688;0|61 N N - 17 59561584 59561584 G T snp UTR3 *707G>T TBX4 Tbx4 ENSG00000121075 T-box 4 chr17:59529765-59562471 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008] height; breast cancer ; Height; Cleft Lip|Cleft Palate; Bone Mineral Density; Hip Dislocation, Congenital|Joint Instability Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth. GO:0001525;angiogenesis;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035108;limb morphogenesis;IMP|GO:0048705;skeletal system morphogenesis;IMP GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBX4 https://www.uniprot.org/uniprot/P57082 https://hpo.jax.org/app/browse/search?q=TBX4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601719 http://www.informatics.jax.org/searchtool/Search.do?query=TBX4&submit=Quick%0D%5289ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX4 rs3744437 0.323083 0 0 1 0 0 UTR3 UTR3 UTR3 TBX4(NM_018488:c.*707G>T) TBX4(uc010ddo.3:c.*707G>T,uc002izi.3:c.*707G>T,uc010woy.2:c.*707G>T) ENSG00000121075(ENST00000393853:c.*707G>T,ENST00000240335:c.*707G>T) Na Na Na Na Na Na Het;G>T 588;56|34 Ref Hom;G>T 2604;3|110 N N - 17 59800787 59800787 G C snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs7220688 0.715256 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;G>C 32;6|2 Het;G>C 192;3|6 Hom;G>C 629;0|19 N N - 17 59801007 59801007 C A snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs553303885 0.000599042 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;C>A 526;40|25 Ref Hom;C>A 2492;1|93 N N - 17 59854512 59854512 A G snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs7207881 0.766374 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;A>G 63;2|3 Het;A>G 39;2|2 Hom;A>G 124;0|4 N N - 17 59857809 59857809 C G snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs4988351 0.789736 0.7859 0.7476 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;C>G 583;20|22 Het;C>G 381;26|17 Hom;C>G 821;0|28 N N - 17 59875925 59875925 G A snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs1978244 0.791733 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;G>A 72;2|3 Het;G>A 77;1|4 Hom;G>A 121;0|4 N N - 17 59876352 59876352 C T snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs2191248 0.1873 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;C>T 304;19|11 Ref Hom;C>T 1437;0|42 N N - 17 59877984 59877984 C T snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs9904292 0.789936 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;C>T 181;2|6 Het;C>T 136;10|7 Hom;C>T 699;0|24 N N - 17 59878416 59878416 G C snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs62068834 0.18111 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;G>C 350;26|16 Ref Hom;G>C 1373;0|47 N N - 17 59878522 59878522 C CA indel intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs11390869 0 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;+A 646;30|31 Het;+A 726;39|35 Hom;+A 1834;3|69 N N - 17 59887336 59887336 C T snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs62068836 0.1875 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;C>T 218;8|9 Ref Hom;C>T 744;0|24 N N - 17 59893497 59893497 T C snp intronic BRIP1 Brip1 ENSG00000136492 BRCA1 interacting protein C-terminal helicase 1 chr17:59758627-59940882 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; breast cancer ; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Abortion, Spontaneous; cervical intraepithelial neoplasia grade 3; ovarian cancer ; prostate cancer; epithelial ovarian cancer ; Neoplasms; breast cancer; lung cancer; bladder cancer; breast cancer ovarian cancer; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; chronic obstructive pulmonary disease Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;NAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0007284;spermatogonial cell division;IEA|GO:0007286;spermatid development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010705;meiotic DNA double-strand break processing involved in reciprocal meiotic recombination;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0051026;chiasma assembly;IEA|GO:0071295;cellular response to vitamin;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072520;seminiferous tubule development;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904385;cellular response to angiotensin;IEA|GO:1990918;double-strand break repair involved in meiotic recombination;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;NAS|GO:0003682;chromatin binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRIP1 https://www.uniprot.org/uniprot/Q9BX63 https://hpo.jax.org/app/browse/search?q=BRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605882 http://www.informatics.jax.org/searchtool/Search.do?query=BRIP1&submit=Quick%0D%7354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRIP1 rs12949659 0.80611 0 0 1 0 0 intronic intronic intronic BRIP1 BRIP1 ENSG00000136492 Na Na Na Na Na Na Het;T>C 250;6|11 Het;T>C 507;14|25 Hom;T>C 958;0|35 N N - 17 59943068 59943068 T TA indel UTR3 *1850A>TA INTS2 Ints2 ENSG00000108506 integrator complex subunit 2 chr17:59942731-60005377 INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] RNA polymerase II transcribes snRNA genes GO:0016180;snRNA processing;IDA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/INTS2 https://www.uniprot.org/uniprot/Q9H0H0 https://www.ncbi.nlm.nih.gov/omim/?term=611346 http://www.informatics.jax.org/searchtool/Search.do?query=INTS2&submit=Quick%0D%3723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS2 rs569754210 0.137979 0 0 1 0 0 UTR3 UTR3 UTR3 INTS2(NM_020748:c.*1850A>TA) INTS2(uc002izm.3:c.*1850A>TA,uc002izn.3:c.*1850A>TA) ENSG00000108506(ENST00000444766:c.*1850A>TA) Na Na Na Na Na Na Het;+A 1508;49|71 Ref Hom;+A 2738;16|116 N N - 17 59969000 59969000 T C snp synonymous SNV A1773G Q591Q polar,hydrophilic,neutral polar,hydrophilic,neutral INTS2 Ints2 ENSG00000108506 integrator complex subunit 2 chr17:59942731-60005377 INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] RNA polymerase II transcribes snRNA genes GO:0016180;snRNA processing;IDA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0032039;integrator complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/INTS2 https://www.uniprot.org/uniprot/Q9H0H0 https://www.ncbi.nlm.nih.gov/omim/?term=611346 http://www.informatics.jax.org/searchtool/Search.do?query=INTS2&submit=Quick%0D%3723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INTS2 rs753765 0.133586 0.0477 0.1071 1 0 0 exonic exonic exonic INTS2 INTS2 ENSG00000108506 synonymous SNV synonymous SNV unknown INTS2:NM_020748:exon14:c.A1773G:p.Q591Q, INTS2:uc002izm.3:exon14:c.A1749G:p.Q583Q,INTS2:uc002izn.3:exon14:c.A1773G:p.Q591Q, UNKNOWN Het;T>C 1314;53|62 Ref Hom;T>C 3208;0|120 N N - 17 60039260 60039260 A T snp intronic MED13 Med13 ENSG00000108510 mediator complex subunit 13 chr17:60019966-60142643 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008] thyroid cancer; Tobacco Use Disorder Mice homozygous for a conditional allele exhibited in the heart exhibit increased susceptibility to obesity and worsened glucose intolerance when fed a high fat diet. Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0030518;intracellular steroid hormone receptor signaling pathway;IDA|GO:0030521;androgen receptor signaling pathway;IDA|GO:0042632;cholesterol homeostasis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070328;triglyceride homeostasis;IEA|GO:1904168;negative regulation of thyroid hormone receptor activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016592;mediator complex;IDA GO:0001104;RNA polymerase II transcription cofactor activity;IDA|GO:0003712;transcription cofactor activity;IDA|GO:0003713;transcription coactivator activity;IDA|GO:0004872;receptor activity;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;NAS|GO:0042809;vitamin D receptor binding;NAS|GO:0046966;thyroid hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MED13 https://www.uniprot.org/uniprot/Q9UHV7 https://www.ncbi.nlm.nih.gov/omim/?term=603808 http://www.informatics.jax.org/searchtool/Search.do?query=MED13&submit=Quick%0D%3725ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED13 rs72843770 0.143171 0 0 1 0 0 intronic intronic intronic MED13 MED13 ENSG00000108510 Na Na Na Na Na Na Het;A>T 238;5|8 Ref Hom;A>T 234;0|7 N N - 17 60215386 60215386 T C snp ncRNA_exonic AC008158.1 rs3803868 0.134784 0 0 1 0 0 intergenic intergenic ncRNA_exonic MED13(dist=72743),TBC1D3P2(dist=126681) MED13(dist=72743),Mir_652(dist=75976) ENSG00000266066 Na Na Na Na Na Na Het;T>C 992;26|41 Ref Hom;T>C 1864;0|68 N N - 17 60315550 60315550 A G snp ncRNA_intronic AC053481.3 Na 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic MED13(dist=172907),TBC1D3P2(dist=26517) Mir_652(dist=24093),TBC1D3P2(dist=29956) ENSG00000266365 Na Na Na Na Na Na Het;A>G 560;17|20 Ref Hom;A>G 639;0|18 N N - 17 60341949 60341949 C T snp downstream TBC1D3P2 rs4107881 0.654553 0 0 1 0 0 downstream intergenic downstream TBC1D3P2 Mir_652(dist=50492),TBC1D3P2(dist=3557) ENSG00000188755 Na Na Na Na Na Na Het;C>T 51;7|3 Het;C>T 118;3|4 Hom;C>T 139;0|4 N N - 17 60342552 60342552 T C snp ncRNA_exonic TBC1D3P2 rs866035605 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic TBC1D3P2 Mir_652(dist=51095),TBC1D3P2(dist=2954) ENSG00000188755 Na Na Na Na Na Na Het;T>C 1835;139|94 Het;T>C 1273;296|88 Hom;T>C 2652;2|101 N N - 17 60344525 60344525 G A snp ncRNA_exonic TBC1D3P2 rs4968419 0.313898 0 0 1 0 0 ncRNA_exonic downstream ncRNA_exonic TBC1D3P2 TBC1D3P2 ENSG00000188755 Na Na Na Na Na Na Het;G>A 2357;109|101 Ref Hom;G>A 5868;3|219 N N - 17 60348325 60348325 G A snp synonymous SNV C450T S150S polar,hydrophilic,neutral polar,hydrophilic,neutral TBC1D3P2 rs796781696 0.313898 0 0.3272 1 0 0 ncRNA_intronic exonic ncRNA_exonic TBC1D3P2 TBC1D3P2 ENSG00000188755 Na synonymous SNV Na Na TBC1D3P2:uc002izq.2:exon7:c.C450T:p.S150S, Na Het;G>A 1944;93|90 Ref Hom;G>A 2931;8|119 N N - 17 60351457 60351457 G A snp nonsynonymous SNV C20T A7V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TBC1D3P2 rs4968502 0.314696 0 0.3261 1 0 0 ncRNA_exonic exonic exonic TBC1D3P2 TBC1D3P2 ENSG00000270033 Na nonsynonymous SNV unknown Na TBC1D3P2:uc002izq.2:exon2:c.C20T:p.A7V, UNKNOWN Het;G>A 3994;276|194 Ref Hom;G>A 8206;0|316 N N - 17 60351546 60351546 G A snp ncRNA_intronic TBC1D3P2 rs3928650 0.3752 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TBC1D3P2 TBC1D3P2 ENSG00000188755 Na Na Na Na Na Na Het;G>A 2101;114|99 Ref Hom;G>A 3620;0|138 N N - 17 60351603 60351603 G T snp ncRNA_intronic TBC1D3P2 rs368847025 0.342252 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TBC1D3P2 TBC1D3P2 ENSG00000188755 Na Na Na Na Na Na Het;G>T 1068;35|41 Ref Hom;G>T 1018;0|35 N N - 17 60352002 60352002 T C snp ncRNA_intronic TBC1D3P2 rs62069122 0.70607 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TBC1D3P2 TBC1D3P2 ENSG00000188755 Na Na Na Na Na Na Het;T>C 103;3|5 Het;T>C 85;1|5 Hom;T>C 96;0|5 N N - 17 60354935 60354935 A G snp intronic AC053481.5 rs35815750 0.307708 0 0 1 0 0 intergenic intergenic intronic TBC1D3P2(dist=1919),EFCAB3(dist=92644) TBC1D3P2(dist=1919),EFCAB3(dist=92644) ENSG00000270033 Na Na Na Na Na Na Het;A>G 163;16|7 Ref Hom;A>G 463;0|18 N N - 17 60359901 60359901 G A snp ncRNA_exonic AC053481.2 rs2627876 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic TBC1D3P2(dist=6885),EFCAB3(dist=87678) TBC1D3P2(dist=6885),EFCAB3(dist=87678) ENSG00000263887 Na Na Na Na Na Na Het;G>A 125;3|5 Het;G>A 69;1|3 Hom;G>A 107;0|4 N N - 17 60360238 60360238 A G snp unknown AC053481.5 rs10163525 0.788139 0 0.8554 1 0 0 intergenic intergenic exonic TBC1D3P2(dist=7222),EFCAB3(dist=87341) TBC1D3P2(dist=7222),EFCAB3(dist=87341) ENSG00000270033 Na Na unknown Na Na UNKNOWN Het;A>G 2797;48|79 Het;A>G 3099;60|88 Hom;A>G 5681;0|139 N N - 17 60360261 60360261 T C snp ncRNA_exonic AC053481.2 rs62069132 0.785543 0 0.8544 1 0 0 intergenic intergenic ncRNA_exonic TBC1D3P2(dist=7245),EFCAB3(dist=87318) TBC1D3P2(dist=7245),EFCAB3(dist=87318) ENSG00000263887 Na Na Na Na Na Na Het;T>C 2550;37|65 Het;T>C 2782;45|70 Hom;T>C 5152;0|112 N N - 17 60364233 60364233 A T snp ncRNA_intronic AC053481.2 rs4968513 0.311302 0 0 1 0 0 intergenic intergenic ncRNA_intronic TBC1D3P2(dist=11217),EFCAB3(dist=83346) TBC1D3P2(dist=11217),EFCAB3(dist=83346) ENSG00000263887 Na Na Na Na Na Na Het;A>T 201;8|7 Ref Hom;A>T 366;0|14 N N - 17 60366251 60366251 T C snp ncRNA_intronic AC053481.2 rs558640249 0.000399361 0 0 1 0 0 intergenic intergenic ncRNA_intronic TBC1D3P2(dist=13235),EFCAB3(dist=81328) TBC1D3P2(dist=13235),EFCAB3(dist=81328) ENSG00000263887 Na Na Na Na Na Na Het;T>C 380;10|15 Ref Hom;T>C 575;0|18 N N - 17 60366741 60366741 C G snp ncRNA_intronic AC053481.2 rs2668983 0.787939 0 0 1 0 0 intergenic intergenic ncRNA_intronic TBC1D3P2(dist=13725),EFCAB3(dist=80838) TBC1D3P2(dist=13725),EFCAB3(dist=80838) ENSG00000263887 Na Na Na Na Na Na Het;C>G 1090;73|55 Het;C>G 1585;68|76 Hom;C>G 3431;0|125 N N - 17 60366800 60366800 T A snp ncRNA_intronic AC053481.2 rs11658000 0.354433 0 0 1 0 0 intergenic intergenic ncRNA_intronic TBC1D3P2(dist=13784),EFCAB3(dist=80779) TBC1D3P2(dist=13784),EFCAB3(dist=80779) ENSG00000263887 Na Na Na Na Na Na Het;T>A 357;24|15 Ref Hom;T>A 1197;0|32 N N - 17 60399470 60399470 C A snp intergenic TBC1D3P2 rs4968515 0.34385 0 0 1 0 0 intergenic intergenic intergenic TBC1D3P2(dist=46454),EFCAB3(dist=48109) TBC1D3P2(dist=46454),EFCAB3(dist=48109) ENSG00000242123(dist=1920),ENSG00000172421(dist=48109) Na Na Na Na Na Na Het;C>A 110;3|5 Ref Hom;C>A 189;0|6 N N - 17 60491298 60491298 G T snp intronic EFCAB3 Efcab3 ENSG00000172421 EF-hand calcium binding domain 3 chr17:60447579-60493837 Tobacco Use Disorder Male mice homozygous for a mutation are viable and show normal fertility. GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB3 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB3&submit=Quick%0D%13157ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB3 rs9913294 0.226238 0 0 1 0 0 intronic intronic intronic EFCAB3 EFCAB3 ENSG00000172421 Na Na Na Na Na Na Het;G>T 375;10|14 Ref Hom;G>T 664;0|23 N N - 17 60741917 60741917 G A snp nonsynonymous SNV G127A V43I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MRC2 Mrc2 ENSG00000011028 mannose receptor C type 2 chr17:60704762-60770958 This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012] head and neck cancer Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration. Cross-presentation of soluble exogenous antigens (endosomes) GO:0001649;osteoblast differentiation;IDA|GO:0006897;endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0030574;collagen catabolic process;IDA GO:0005887;integral component of plasma membrane;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRC2 https://www.uniprot.org/uniprot/Q9UBG0 https://www.ncbi.nlm.nih.gov/omim/?term=612264 http://www.informatics.jax.org/searchtool/Search.do?query=MRC2&submit=Quick%0D%539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRC2 rs2014055 0.0830671 0.1279 0.1419 0.15 2 13 exonic exonic exonic MRC2 MRC2 ENSG00000011028 nonsynonymous SNV nonsynonymous SNV unknown MRC2:NM_006039:exon2:c.G127A:p.V43I, MRC2:uc002jad.4:exon2:c.G127A:p.V43I, UNKNOWN Het;G>A 993;43|45 Ref Hom;G>A 2200;0|78 N N - 17 60837528 60837529 CT C indel ncRNA_intronic MIR548W rs145359450 0.033147 0 0 1 0 0 ncRNA_intronic intronic intronic MIR548W MARCH10 ENSG00000173838 Na Na Na Na Na Na Het;-T 155;3|6 Ref Hom;-T 125;0|4 N N - 17 61778167 61778167 G GCCCGGCAGC indel ncRNA_exonic LOC729683 rs147975726 0.396166 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC729683 LOC729683 ENSG00000136490 Na Na Na Na Na Na Het;+CCCGGCAGC 1039;19|21 Ref Hom;+CCCGGCAGC 1254;0|28 N N - 17 61781331 61781331 T TAGAACC indel UTR3 *908A>GGTTCTA STRADA Strada ENSG00000266173 STE20-related kinase adaptor alpha chr17:61780192-61819330 The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009] height Energy dependent regulation of mTOR by LKB1-AMPK GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0032147;activation of protein kinase activity;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019900;kinase binding;IPI|GO:0030295;protein kinase activator activity;IDA|GO:0043539;protein serine/threonine kinase activator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/STRADA https://hpo.jax.org/app/browse/search?q=STRADA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608626 http://www.informatics.jax.org/searchtool/Search.do?query=STRADA&submit=Quick%0D%20617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STRADA rs3830487 0.397764 0 0.3773 1 0 0 UTR3 UTR3 UTR3 STRADA(NM_153335:c.*312A>GGTTCTA) STRADA(uc002jbp.3:c.*312A>GGTTCTA,uc002jbr.3:c.*908A>GGTTCTA) ENSG00000266173(ENST00000245865:c.*908A>GGTTCTA,ENST00000392950:c.*312A>GGTTCTA,ENST00000582026:c.*25A>GGTTCTA) Na Na Na Na Na Na Het;+AGAACC 350;11|10 Ref Hom;+AGAACC 275;0|6 N N - 17 61790917 61790917 G C snp intronic STRADA Strada ENSG00000266173 STE20-related kinase adaptor alpha chr17:61780192-61819330 The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009] height Energy dependent regulation of mTOR by LKB1-AMPK GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0032147;activation of protein kinase activity;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019900;kinase binding;IPI|GO:0030295;protein kinase activator activity;IDA|GO:0043539;protein serine/threonine kinase activator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/STRADA https://hpo.jax.org/app/browse/search?q=STRADA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608626 http://www.informatics.jax.org/searchtool/Search.do?query=STRADA&submit=Quick%0D%20617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STRADA rs16947051 0.395168 0.2872 0.3836 1 0 0 intronic intronic intronic STRADA STRADA ENSG00000125695,ENSG00000266173 Na Na Na Na Na Na Het;G>C 827;23|35 Ref Hom;G>C 1076;2|39 N N - 17 61892862 61892862 G A snp intronic DDX42 Ddx42 ENSG00000198231 DEAD-box helicase 42 chr17:61850963-61896677 This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] mRNA Splicing - Minor Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0008104;protein localization;IDA|GO:0010501;RNA secondary structure unwinding;IBA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0015030;Cajal body;IEA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DDX42 https://www.ncbi.nlm.nih.gov/omim/?term=613369 http://www.informatics.jax.org/searchtool/Search.do?query=DDX42&submit=Quick%0D%16853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX42 rs2247435 0.396166 0 0 1 0 0 intronic intronic intronic DDX42 DDX42 ENSG00000198231 Na Na Na Na Na Na Het;G>A 167;21|10 Ref Hom;G>A 541;0|18 N N - 17 61908556 61908556 C T snp synonymous SNV C816T L272L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PSMC5 Psmc5 ENSG00000087191 proteasome 26S subunit, ATPase 5 chr17:61904512-61909379 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Mice homozygous for a phospho-mimetic allele exhibit absence of cocaine locomotor activity sensitization. Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0030163;protein catabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043069;negative regulation of programmed cell death;NAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045899;positive regulation of RNA polymerase II transcriptional preinitiation complex assembly;IBA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090261;positive regulation of inclusion body assembly;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1901800;positive regulation of proteasomal protein catabolic process;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005838;proteasome regulatory particle;IEA|GO:0008540;proteasome regulatory particle, base subcomplex;IBA|GO:0016020;membrane;IDA|GO:0016234;inclusion body;IEA|GO:0022624;proteasome accessory complex;ISS|GO:0031410;cytoplasmic vesicle;IDA|GO:0031595;nuclear proteasome complex;IBA|GO:0031597;cytosolic proteasome complex;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:0098794;postsynapse;IEA GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;TAS|GO:0017025;TBP-class protein binding;IBA|GO:0031531;thyrotropin-releasing hormone receptor binding;IPI|GO:0036402;proteasome-activating ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSMC5 https://www.uniprot.org/uniprot/P62195 https://www.ncbi.nlm.nih.gov/omim/?term=601681 http://www.informatics.jax.org/searchtool/Search.do?query=PSMC5&submit=Quick%0D%1958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMC5 rs13030 0.396565 0.2834 0.3761 1 0 0 exonic exonic exonic PSMC5 PSMC5 ENSG00000087191 synonymous SNV synonymous SNV unknown PSMC5:NM_001199163:exon8:c.C816T:p.L272L,PSMC5:NM_002805:exon8:c.C840T:p.L280L, PSMC5:uc002jcb.3:exon8:c.C840T:p.L280L,PSMC5:uc002jcd.3:exon8:c.C816T:p.L272L,PSMC5:uc010ddy.3:exon7:c.C771T:p.L257L, UNKNOWN Het;C>T 2519;119|106 Ref Hom;C>T 4036;2|153 N N - 17 61963236 61963236 C A snp ncRNA_exonic AC040958.1 rs62074276 0.490216 0 0 1 0 0 intergenic intergenic ncRNA_exonic GH2(dist=3934),CSH1(dist=9032) GH2(dist=3934),CSH1(dist=9032) ENSG00000259533 Na Na Na Na Na Na Het;C>A 503;14|21 Ref Hom;C>A 841;0|32 N N - 17 62079286 62079286 G A snp nonsynonymous SNV G662A C221Y polar,hydrophobic,neutral aromatic,polar,hydrophobic C17orf72 rs12939821 0.357827 0 0.4590 0.17 2 12 exonic exonic exonic PRR29 C17orf72 ENSG00000224383 nonsynonymous SNV nonsynonymous SNV unknown PRR29:NM_001191029:exon5:c.G662A:p.C221Y, C17orf72:uc010wpw.2:exon5:c.G662A:p.C221Y, UNKNOWN Het;G>A 2307;123|109 Ref Hom;G>A 5228;2|192 N N - 17 62952689 62952689 C G snp downstream SLC16A6P1 rs3960389 0.799321 0 0.9106 1 0 0 intergenic intergenic downstream LRRC37A3(dist=37091),AMZ2P1(dist=9979) LRRC37A3(dist=37103),AMZ2P1(dist=9979) ENSG00000232457 Na Na Na Na Na Na Het;C>G 1192;10|44 Het;C>G 550;11|20 Hom;C>G 634;0|24 N N - 17 6355419 6355419 G A snp UTR3 *3239C>T PITPNM3 Pitpnm3 ENSG00000091622 PITPNM family member 3 chr17:6354584-6459814 This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Hip Synthesis of PI GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0046488;phosphatidylinositol metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008526;phosphatidylinositol transporter activity;TAS|GO:0030971;receptor tyrosine kinase binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PITPNM3 https://www.uniprot.org/uniprot/Q9BZ71 https://hpo.jax.org/app/browse/search?q=PITPNM3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608921 http://www.informatics.jax.org/searchtool/Search.do?query=PITPNM3&submit=Quick%0D%2158ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PITPNM3 rs11078630 0.333067 0 0 1 0 0 UTR3 UTR3 UTR3 PITPNM3(NM_001165966:c.*3239C>T,NM_031220:c.*3239C>T) PITPNM3(uc010clm.3:c.*3239C>T,uc002gdd.4:c.*3239C>T,uc010cln.3:c.*3239C>T) ENSG00000091622(ENST00000421306:c.*3239C>T,ENST00000262483:c.*3239C>T) Na Na Na Na Na Na Het;G>A 231;17|11 Het;G>A 282;18|15 Hom;G>A 1145;0|40 N N - 17 6358174 6358174 A G snp UTR3 *484T>C PITPNM3 Pitpnm3 ENSG00000091622 PITPNM family member 3 chr17:6354584-6459814 This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Hip Synthesis of PI GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0046488;phosphatidylinositol metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008526;phosphatidylinositol transporter activity;TAS|GO:0030971;receptor tyrosine kinase binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PITPNM3 https://www.uniprot.org/uniprot/Q9BZ71 https://hpo.jax.org/app/browse/search?q=PITPNM3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608921 http://www.informatics.jax.org/searchtool/Search.do?query=PITPNM3&submit=Quick%0D%2158ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PITPNM3 rs12449488 0.436701 0 0 1 0 0 UTR3 UTR3 UTR3 PITPNM3(NM_001165966:c.*484T>C,NM_031220:c.*484T>C) PITPNM3(uc010clm.3:c.*484T>C,uc002gdd.4:c.*484T>C,uc010cln.3:c.*484T>C) ENSG00000091622(ENST00000421306:c.*484T>C,ENST00000262483:c.*484T>C) Na Na Na Na Na Na Het;A>G 340;9|14 Het;A>G 401;6|15 Hom;A>G 588;0|22 N N - 17 6358989 6358989 G C snp intronic PITPNM3 Pitpnm3 ENSG00000091622 PITPNM family member 3 chr17:6354584-6459814 This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Hip Synthesis of PI GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0046488;phosphatidylinositol metabolic process;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008526;phosphatidylinositol transporter activity;TAS|GO:0030971;receptor tyrosine kinase binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PITPNM3 https://www.uniprot.org/uniprot/Q9BZ71 https://hpo.jax.org/app/browse/search?q=PITPNM3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608921 http://www.informatics.jax.org/searchtool/Search.do?query=PITPNM3&submit=Quick%0D%2158ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PITPNM3 rs73346328 0.355631 0.2569 0.3035 1 0 0 intronic intronic intronic PITPNM3 PITPNM3 ENSG00000091622 Na Na Na Na Na Na Het;G>C 293;12|12 Het;G>C 375;19|17 Hom;G>C 379;0|14 N N - 17 64001925 64001925 G A snp intronic CEP112 Cep112 ENSG00000154240 centrosomal protein 112 chr17:63631656-64188202 This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; multiple sclerosis; Body Weight GO:0097120;receptor localization to synapse;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0060077;inhibitory synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP112 https://www.uniprot.org/uniprot/Q8N8E3 http://www.informatics.jax.org/searchtool/Search.do?query=CEP112&submit=Quick%0D%9747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP112 rs1015098 0.536342 0.3618 0.4984 1 0 0 intronic intronic intronic CEP112 CEP112 ENSG00000154240 Na Na Na Na Na Na Het;G>A 837;48|39 Ref Hom;G>A 1697;0|62 N N - 17 64023642 64023642 A G snp synonymous SNV T1507C L503L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CEP112 Cep112 ENSG00000154240 centrosomal protein 112 chr17:63631656-64188202 This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; multiple sclerosis; Body Weight GO:0097120;receptor localization to synapse;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0060077;inhibitory synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP112 https://www.uniprot.org/uniprot/Q8N8E3 http://www.informatics.jax.org/searchtool/Search.do?query=CEP112&submit=Quick%0D%9747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP112 rs11079628 0.536342 0.3444 0.5026 1 0 0 exonic exonic exonic CEP112 CEP112 ENSG00000154240 synonymous SNV synonymous SNV unknown CEP112:NM_001302891:exon14:c.T1507C:p.L503L,CEP112:NM_145036:exon16:c.T1633C:p.L545L,CEP112:NM_001199165:exon16:c.T1633C:p.L545L, CEP112:uc010deo.3:exon8:c.T859C:p.L287L,CEP112:uc002jfl.3:exon16:c.T1633C:p.L545L,CEP112:uc010dep.2:exon14:c.T1507C:p.L503L,CEP112:uc002jfm.3:exon16:c.T1633C:p.L545L, UNKNOWN Het;A>G 307;13|15 Ref Hom;A>G 516;0|18 N N - 17 64025435 64025435 T TTAATCA indel intronic CEP112 Cep112 ENSG00000154240 centrosomal protein 112 chr17:63631656-64188202 This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; multiple sclerosis; Body Weight GO:0097120;receptor localization to synapse;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0060077;inhibitory synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP112 https://www.uniprot.org/uniprot/Q8N8E3 http://www.informatics.jax.org/searchtool/Search.do?query=CEP112&submit=Quick%0D%9747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP112 rs397815420 0.532748 0 0 1 0 0 intronic intronic intronic CEP112 CEP112 ENSG00000154240 Na Na Na Na Na Na Het;+TAATCA 626;17|18 Ref Hom;+TAATCA 1361;0|32 N N - 17 64050007 64050007 G A snp intronic CEP112 Cep112 ENSG00000154240 centrosomal protein 112 chr17:63631656-64188202 This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; multiple sclerosis; Body Weight GO:0097120;receptor localization to synapse;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0060077;inhibitory synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP112 https://www.uniprot.org/uniprot/Q8N8E3 http://www.informatics.jax.org/searchtool/Search.do?query=CEP112&submit=Quick%0D%9747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP112 rs11079637 0.536342 0.3555 0.4924 1 0 0 intronic intronic intronic CEP112 CEP112 ENSG00000154240 Na Na Na Na Na Na Het;G>A 941;67|43 Ref Hom;G>A 1925;0|71 N N - 17 64128760 64128760 A T snp intronic CEP112 Cep112 ENSG00000154240 centrosomal protein 112 chr17:63631656-64188202 This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Tobacco Use Disorder; Myocardial Infarction; Attention Deficit Disorder with Hyperactivity; multiple sclerosis; Body Weight GO:0097120;receptor localization to synapse;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0060077;inhibitory synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP112 https://www.uniprot.org/uniprot/Q8N8E3 http://www.informatics.jax.org/searchtool/Search.do?query=CEP112&submit=Quick%0D%9747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP112 rs229854 0.511981 0.2795 0.3594 1 0 0 intronic intronic intronic CEP112 CEP112 ENSG00000154240 Na Na Na Na Na Na Het;A>T 953;51|42 Ref Hom;A>T 1642;0|59 N N - 17 64210757 64210757 C A snp nonsynonymous SNV G796T V266L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral APOH Apoh ENSG00000091583 apolipoprotein H chr17:64208151-64252643 Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008] C-Reactive Protein; stroke; lipids; stroke; lipids; Antiphospholipid Syndrome|Leprosy, Multibacillary; Antiphospholipid Syndrome|Thrombosis; arterial thrombosis thromboembolism, venous; Type 2 Diabetes| edema | rosiglitazone; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; antiphospholipid syndrome; lipid metabolism; Cerebral Infarction|; lipoprotein; brain hemorrhage; systemic lupus erythematosus; Kidney Failure, Chronic; BMI rosiglitazone or pioglitazone; null; Leprosy, Multibacillary|Leprosy, Paucibacillary; Carotid Stenosis|Lupus Erythematosus, Systemic|Lupus Nephritis; lipoprotein; antiphospholipid syndrome; Hypercholesterolemia|LDLC levels; reduced gene expression and lower plasma levels of beta2-glycoprotein I Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses. Platelet degranulation GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002576;platelet degranulation;TAS|GO:0006641;triglyceride metabolic process;IDA|GO:0007597;blood coagulation, intrinsic pathway;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030193;regulation of blood coagulation;IEA|GO:0030194;positive regulation of blood coagulation;TAS|GO:0030195;negative regulation of blood coagulation;IDA|GO:0031639;plasminogen activation;IDA|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0034197;triglyceride transport;ISS|GO:0034392;negative regulation of smooth muscle cell apoptotic process;IDA|GO:0051006;positive regulation of lipoprotein lipase activity;IDA|GO:0051917;regulation of fibrinolysis;IDA|GO:0051918;negative regulation of fibrinolysis;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0031012;extracellular matrix;IDA|GO:0031089;platelet dense granule lumen;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0070062;extracellular exosome;IDA GO:0001948;glycoprotein binding;IPI|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IEA|GO:0008289;lipid binding;IDA|GO:0042802;identical protein binding;IPI|GO:0060230;lipoprotein lipase activator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/APOH https://www.uniprot.org/uniprot/P02749 https://www.ncbi.nlm.nih.gov/omim/?term=138700 http://www.informatics.jax.org/searchtool/Search.do?query=APOH&submit=Quick%0D%2156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOH rs4581 0.541534 0.3297 0.3738 0.08 1 13 exonic exonic exonic APOH APOH ENSG00000091583 nonsynonymous SNV nonsynonymous SNV unknown APOH:NM_000042:exon7:c.G796T:p.V266L, APOH:uc002jfn.4:exon7:c.G796T:p.V266L, UNKNOWN Het;C>A 1975;134|95 Ref Hom;C>A 5783;0|213 N N - 17 64394210 64394210 C T snp ncRNA_exonic PRKCA-AS1 rs4261587 0.829872 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PRKCA-AS1 BC033554 ENSG00000264630 Na Na Na Na Na Na Het;C>T 1199;29|47 Het;C>T 717;49|32 Hom;C>T 1808;0|67 N N - 17 64408643 64408643 G A snp ncRNA_intronic BC033554 rs4630585 0.829473 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PRKCA-AS1 BC033554 ENSG00000264630 Na Na Na Na Na Na Het;G>A 136;3|5 Het;G>A 79;1|3 Hom;G>A 91;0|3 N N - 17 64411889 64411889 C CT indel ncRNA_exonic PRKCA-AS1 rs11408080 0.850439 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PRKCA-AS1 BC033554 ENSG00000264630 Na Na Na Na Na Na Het;+T 1929;45|56 Het;+T 1359;56|42 Hom;+T 3003;0|76 N N - 17 64414554 64414554 T C snp intronic PRKCA Prkca ENSG00000154229 protein kinase C alpha chr17:64298754-64806861 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008] Hepatopulmonary Syndrome|Liver Cirrhosis; breast cancer ; schizophrenia; several psychiatric disorders; esophageal adenocarcinoma; obesity|asthma; Tobacco Use Disorder; Multiple Sclerosis; Asthma; Bacterial Vaginosis|Premature Birth|Vaginosis, Bacterial; Schizophrenia; plasma HDL cholesterol (HDL-C) levels; multiple sclerosis Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure. RET signaling GO:0001525;angiogenesis;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0002159;desmosome assembly;IMP|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007155;cell adhesion;IEA|GO:0007190;activation of adenylate cyclase activity;ISS|GO:0007194;negative regulation of adenylate cyclase activity;ISS|GO:0007411;axon guidance;TAS|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010613;positive regulation of cardiac muscle hypertrophy;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030168;platelet activation;TAS|GO:0030335;positive regulation of cell migration;IMP|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0034351;negative regulation of glial cell apoptotic process;IMP|GO:0035408;histone H3-T6 phosphorylation;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0045651;positive regulation of macrophage differentiation;ISS|GO:0045766;positive regulation of angiogenesis;IMP|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0070555;response to interleukin-1;IMP|GO:0090330;regulation of platelet aggregation;IDA|GO:0097190;apoptotic signaling pathway;TAS|GO:2000707;positive regulation of dense core granule biogenesis;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;TAS|GO:0004698;calcium-dependent protein kinase C activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0035403;histone kinase activity (H3-T6 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRKCA https://www.uniprot.org/uniprot/P17252 https://www.ncbi.nlm.nih.gov/omim/?term=176960 http://www.informatics.jax.org/searchtool/Search.do?query=PRKCA&submit=Quick%0D%9745ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCA rs6504429 0.84984 0 0 1 0 0 intronic intronic intronic PRKCA PRKCA ENSG00000154229 Na Na Na Na Na Na Het;T>C 82;2|4 Ref Hom;T>C 478;0|15 N N - 17 64961275 64961275 C CA indel intronic CACNG4 Cacng4 ENSG00000075461 calcium voltage-gated channel auxiliary subunit gamma 4 chr17:64961026-65029514 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] Echocardiography; Type 2 Diabetes| edema | rosiglitazone; multiple sclerosis Homozygous mutant mice are viable, fertile and phenotypically normal with no ataxic gait or absence seizures. LGI-ADAM interactions GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051899;membrane depolarization;TAS|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IBA|GO:2000311;regulation of AMPA receptor activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0016247;channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CACNG4 https://www.uniprot.org/uniprot/Q9UBN1 https://www.ncbi.nlm.nih.gov/omim/?term=606404 http://www.informatics.jax.org/searchtool/Search.do?query=CACNG4&submit=Quick%0D%1551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG4 rs3035534 0 0.1157 0.2576 1 0 0 intronic intronic intronic CACNG4 CACNG4 ENSG00000075461 Na Na Na Na Na Na Het;+A 187;33|11 Ref Hom;+A 881;0|31 N N - 17 64961276 64961276 C CACACACA indel intronic CACNG4 Cacng4 ENSG00000075461 calcium voltage-gated channel auxiliary subunit gamma 4 chr17:64961026-65029514 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] Echocardiography; Type 2 Diabetes| edema | rosiglitazone; multiple sclerosis Homozygous mutant mice are viable, fertile and phenotypically normal with no ataxic gait or absence seizures. LGI-ADAM interactions GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051899;membrane depolarization;TAS|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IBA|GO:2000311;regulation of AMPA receptor activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0016247;channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CACNG4 https://www.uniprot.org/uniprot/Q9UBN1 https://www.ncbi.nlm.nih.gov/omim/?term=606404 http://www.informatics.jax.org/searchtool/Search.do?query=CACNG4&submit=Quick%0D%1551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG4 rs55909537 0 0 0.1709 1 0 0 intronic intronic intronic CACNG4 CACNG4 ENSG00000075461 Na Na Na Na Na Na Het;+ACACACA 175;37|12 Ref Hom;+ACACACA 1044;0|28 N N - 17 64961305 64961305 T C snp intronic CACNG4 Cacng4 ENSG00000075461 calcium voltage-gated channel auxiliary subunit gamma 4 chr17:64961026-65029514 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] Echocardiography; Type 2 Diabetes| edema | rosiglitazone; multiple sclerosis Homozygous mutant mice are viable, fertile and phenotypically normal with no ataxic gait or absence seizures. LGI-ADAM interactions GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051899;membrane depolarization;TAS|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IBA|GO:2000311;regulation of AMPA receptor activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0016247;channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CACNG4 https://www.uniprot.org/uniprot/Q9UBN1 https://www.ncbi.nlm.nih.gov/omim/?term=606404 http://www.informatics.jax.org/searchtool/Search.do?query=CACNG4&submit=Quick%0D%1551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG4 rs56193061 0.467053 0 0 1 0 0 intronic intronic intronic CACNG4 CACNG4 ENSG00000075461 Na Na Na Na Na Na Het;T>C 255;21|11 Ref Hom;T>C 842;0|22 N N - 17 6553583 6553583 G A snp intronic MED31 Med31 ENSG00000108590 mediator complex subunit 31 chr17:6546635-6554954 Mice homozygous for an ENU-induced allele exhibit developmental delay, reduced cell proliferation, reduced ossification and chondrogenesis, and death during late-gestation. Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0016567;protein ubiquitination;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0060173;limb development;IEA GO:0000151;ubiquitin ligase complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016592;mediator complex;IEA|GO:0070847;core mediator complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003713;transcription coactivator activity;IBA|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MED31 https://www.uniprot.org/uniprot/Q9Y3C7 http://www.informatics.jax.org/searchtool/Search.do?query=MED31&submit=Quick%0D%3741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED31 rs2301874 0.309505 0 0 1 0 0 intronic intronic intronic MED31 MED31 ENSG00000108590 Na Na Na Na Na Na Het;G>A 392;2|14 Het;G>A 92;9|4 Hom;G>A 198;0|6 N N - 17 65574437 65574437 A G snp intronic PITPNC1 Pitpnc1 ENSG00000154217 phosphatidylinositol transfer protein, cytoplasmic 1 chr17:65373575-65693372 This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012] GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007165;signal transduction;IMP|GO:0015914;phospholipid transport;IDA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0008526;phosphatidylinositol transporter activity;IDA|GO:0035091;phosphatidylinositol binding;IDA|GO:0070300;phosphatidic acid binding;IDA|GO:1901611;phosphatidylglycerol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PITPNC1 https://www.uniprot.org/uniprot/Q9UKF7 https://www.ncbi.nlm.nih.gov/omim/?term=605134 http://www.informatics.jax.org/searchtool/Search.do?query=PITPNC1&submit=Quick%0D%9742ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PITPNC1 rs8082003 0.555911 0.3978 0 1 0 0 intronic intronic intronic PITPNC1 PITPNC1 ENSG00000154217 Na Na Na Na Na Na Het;A>G 589;34|25 Het;A>G 861;22|36 Hom;A>G 1713;0|59 N N - 17 6591098 6591098 A T snp intronic SLC13A5 Slc13a5 ENSG00000141485 solute carrier family 13 member 5 chr17:6588032-6616886 This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] Tobacco Use Disorder; Calcium Mice homozygous for a null allele display resistance to diet and age induced obesity, increased energy expenditure, improved glucose tolerance, and increased hepatic lipid oxidation. Mice homozygous for an ENU-induced allele exhibit reduced body weight. Sodium-coupled sulphate, di- and tri-carboxylate transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006842;tricarboxylic acid transport;IEA|GO:0015744;succinate transport;IEA|GO:0015746;citrate transport;IEA|GO:0035674;tricarboxylic acid transmembrane transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0071422;succinate transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015137;citrate transmembrane transporter activity;TAS|GO:0015141;succinate transmembrane transporter activity;IEA|GO:0015142;tricarboxylic acid transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0017153;sodium:dicarboxylate symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC13A5 https://www.uniprot.org/uniprot/Q86YT5 https://hpo.jax.org/app/browse/search?q=SLC13A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC13A5&submit=Quick%0D%8173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC13A5 rs218692 0.693291 0 0 1 0 0 intronic intronic intronic SLC13A5 SLC13A5 ENSG00000141485 Na Na Na Na Na Na Het;A>T 222;11|8 Het;A>T 315;7|11 Hom;A>T 388;2|15 N N - 17 6593922 6593922 T C snp intronic SLC13A5 Slc13a5 ENSG00000141485 solute carrier family 13 member 5 chr17:6588032-6616886 This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] Tobacco Use Disorder; Calcium Mice homozygous for a null allele display resistance to diet and age induced obesity, increased energy expenditure, improved glucose tolerance, and increased hepatic lipid oxidation. Mice homozygous for an ENU-induced allele exhibit reduced body weight. Sodium-coupled sulphate, di- and tri-carboxylate transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006842;tricarboxylic acid transport;IEA|GO:0015744;succinate transport;IEA|GO:0015746;citrate transport;IEA|GO:0035674;tricarboxylic acid transmembrane transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0071422;succinate transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015137;citrate transmembrane transporter activity;TAS|GO:0015141;succinate transmembrane transporter activity;IEA|GO:0015142;tricarboxylic acid transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0017153;sodium:dicarboxylate symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC13A5 https://www.uniprot.org/uniprot/Q86YT5 https://hpo.jax.org/app/browse/search?q=SLC13A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC13A5&submit=Quick%0D%8173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC13A5 rs218696 0.710663 0 0 1 0 0 intronic intronic intronic SLC13A5 SLC13A5 ENSG00000141485 Na Na Na Na Na Na Het;T>C 159;1|5 Het;T>C 76;4|3 Hom;T>C 138;0|4 N N - 17 66038181 66038181 C G snp intronic KPNA2 Kpna2 ENSG00000182481 karyopherin subunit alpha 2 chr17:66031635-66042958 The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] ovarian cancer Sensing of DNA Double Strand Breaks GO:0000018;regulation of DNA recombination;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0075733;intracellular transport of virus;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008565;protein transporter activity;IBA|GO:0042826;histone deacetylase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPNA2 https://www.ncbi.nlm.nih.gov/omim/?term=600685 http://www.informatics.jax.org/searchtool/Search.do?query=KPNA2&submit=Quick%0D%14796ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA2 rs62084696 0.517971 0.6406 0.6583 1 0 0 intronic intronic intronic KPNA2 KPNA2 ENSG00000182481 Na Na Na Na Na Na Het;C>G 852;31|33 Het;C>G 428;22|19 Hom;C>G 1372;0|44 N N - 17 66038979 66038980 CA C indel intronic KPNA2 Kpna2 ENSG00000182481 karyopherin subunit alpha 2 chr17:66031635-66042958 The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] ovarian cancer Sensing of DNA Double Strand Breaks GO:0000018;regulation of DNA recombination;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0075733;intracellular transport of virus;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008565;protein transporter activity;IBA|GO:0042826;histone deacetylase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPNA2 https://www.ncbi.nlm.nih.gov/omim/?term=600685 http://www.informatics.jax.org/searchtool/Search.do?query=KPNA2&submit=Quick%0D%14796ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA2 rs547663907 0.492212 0 0.4801 1 0 0 intronic intronic intronic KPNA2 KPNA2 ENSG00000182481 Na Na Na Na Na Na Het;-A 512;6|33 Het;-A 460;9|32 Hom;-A 439;6|28 N N - 17 66039350 66039350 A G snp synonymous SNV A801G V267V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KPNA2 Kpna2 ENSG00000182481 karyopherin subunit alpha 2 chr17:66031635-66042958 The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] ovarian cancer Sensing of DNA Double Strand Breaks GO:0000018;regulation of DNA recombination;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0075733;intracellular transport of virus;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008565;protein transporter activity;IBA|GO:0042826;histone deacetylase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPNA2 https://www.ncbi.nlm.nih.gov/omim/?term=600685 http://www.informatics.jax.org/searchtool/Search.do?query=KPNA2&submit=Quick%0D%14796ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA2 rs4638 0.51857 0.6414 0.6544 1 0 0 exonic exonic exonic KPNA2 KPNA2 ENSG00000182481 synonymous SNV synonymous SNV unknown KPNA2:NM_002266:exon7:c.A801G:p.V267V, KPNA2:uc002jgk.3:exon7:c.A801G:p.V267V,KPNA2:uc002jgl.3:exon7:c.A801G:p.V267V, UNKNOWN Het;A>G 2555;134|108 Het;A>G 2481;125|103 Hom;A>G 6064;0|201 N N - 17 66039618 66039618 G A snp intronic KPNA2 Kpna2 ENSG00000182481 karyopherin subunit alpha 2 chr17:66031635-66042958 The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] ovarian cancer Sensing of DNA Double Strand Breaks GO:0000018;regulation of DNA recombination;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0075733;intracellular transport of virus;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008565;protein transporter activity;IBA|GO:0042826;histone deacetylase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPNA2 https://www.ncbi.nlm.nih.gov/omim/?term=600685 http://www.informatics.jax.org/searchtool/Search.do?query=KPNA2&submit=Quick%0D%14796ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA2 rs35594666 0.501398 0 0 1 0 0 intronic intronic intronic KPNA2 KPNA2 ENSG00000182481 Na Na Na Na Na Na Het;G>A 248;12|11 Het;G>A 201;8|7 Hom;G>A 423;0|13 N N - 17 66039668 66039668 A G snp intronic KPNA2 Kpna2 ENSG00000182481 karyopherin subunit alpha 2 chr17:66031635-66042958 The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] ovarian cancer Sensing of DNA Double Strand Breaks GO:0000018;regulation of DNA recombination;TAS|GO:0006259;DNA metabolic process;TAS|GO:0006606;protein import into nucleus;IEA|GO:0006607;NLS-bearing protein import into nucleus;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019054;modulation by virus of host process;TAS|GO:0075733;intracellular transport of virus;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IDA|GO:0008565;protein transporter activity;IBA|GO:0042826;histone deacetylase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPNA2 https://www.ncbi.nlm.nih.gov/omim/?term=600685 http://www.informatics.jax.org/searchtool/Search.do?query=KPNA2&submit=Quick%0D%14796ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPNA2 rs35453056 0.518171 0 0 1 0 0 intronic intronic intronic KPNA2 KPNA2 ENSG00000182481 Na Na Na Na Na Na Het;A>G 57;3|3 Het;A>G 70;2|3 Hom;A>G 95;0|4 N N - 17 66097739 66097739 C G snp ncRNA_exonic LINC00674 rs62085660 0.513179 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream LINC00674 LINC00674 ENSG00000237854,ENSG00000265055 Na Na Na Na Na Na Het;C>G 311;28|16 Het;C>G 451;20|20 Hom;C>G 775;0|27 N N - 17 66097802 66097802 C G snp ncRNA_exonic LINC00674 rs62085661 0.548922 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream LINC00674 LINC00674 ENSG00000237854,ENSG00000265055 Na Na Na Na Na Na Het;C>G 714;46|37 Het;C>G 747;42|38 Hom;C>G 1760;1|65 N N - 17 66098154 66098154 A G snp ncRNA_intronic LINC00674 rs75868869 0.605831 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00674 LINC00674 ENSG00000237854 Na Na Na Na Na Na Het;A>G 516;22|26 Het;A>G 485;30|25 Hom;A>G 907;2|36 N N - 17 66098979 66098979 T C snp ncRNA_intronic LINC00674 rs35230316 0.474441 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00674 LINC00674 ENSG00000237854 Na Na Na Na Na Na Het;T>C 57;9|3 Het;T>C 208;11|8 Hom;T>C 407;0|14 N N - 17 66253095 66253095 T A snp synonymous SNV T1068A A356A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AMZ2 Amz2 ENSG00000196704 archaelysin family metallopeptidase 2 chr17:66243715-66253297 Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMZ2 https://www.ncbi.nlm.nih.gov/omim/?term=615169 http://www.informatics.jax.org/searchtool/Search.do?query=AMZ2&submit=Quick%0D%16444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMZ2 rs7105 0.370607 0.3133 0.3492 1 0 0 exonic exonic exonic AMZ2 AMZ2 ENSG00000196704 synonymous SNV synonymous SNV unknown AMZ2:NM_016627:exon7:c.T1068A:p.A356A,AMZ2:NM_001289056:exon8:c.T1068A:p.A356A,AMZ2:NM_001289054:exon8:c.T1068A:p.A356A,AMZ2:NM_001033574:exon6:c.T894A:p.A298A,AMZ2:NM_001033572:exon8:c.T1068A:p.A356A,AMZ2:NM_001033571:exon8:c.T1068A:p.A356A,AMZ2:NM_001033569:exon8:c.T1068A:p.A356A,AMZ2:NM_001033570:exon8:c.T1068A:p.A356A, AMZ2:uc002jgu.1:exon8:c.T1068A:p.A356A,AMZ2:uc002jgr.1:exon8:c.T1068A:p.A356A,AMZ2:uc002jgt.1:exon8:c.T1068A:p.A356A,AMZ2:uc002jgv.1:exon7:c.T1068A:p.A356A,AMZ2:uc002jgw.1:exon6:c.T894A:p.A298A,AMZ2:uc002jgy.1:exon6:c.T1068A:p.A356A,AMZ2:uc002jgs.1:exon8:c.T1068A:p.A356A, UNKNOWN Het;T>A 3909;164|164 Ref Hom;T>A 9634;0|344 N N - 17 66253696 66253696 G A snp downstream AMZ2 Amz2 ENSG00000196704 archaelysin family metallopeptidase 2 chr17:66243715-66253297 Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMZ2 https://www.ncbi.nlm.nih.gov/omim/?term=615169 http://www.informatics.jax.org/searchtool/Search.do?query=AMZ2&submit=Quick%0D%16444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMZ2 rs9892776 0.367212 0 0 1 0 0 downstream downstream downstream AMZ2 AMZ2 ENSG00000196704 Na Na Na Na Na Na Het;G>A 426;29|22 Ref Hom;G>A 1111;0|42 N N - 17 66422158 66422158 A G snp ncRNA_intronic AC007780.1 rs12946747 0.197284 0 0.2383 1 0 0 intronic intronic ncRNA_intronic PRKAR1A,WIPI1 WIPI1 ENSG00000267009 Na Na Na Na Na Na Het;A>G 1072;36|42 Ref Hom;A>G 905;1|34 N N - 17 66424923 66424923 C T snp ncRNA_intronic AC007780.1 rs1002446 0.208067 0.2574 0.2519 1 0 0 intronic intronic ncRNA_intronic PRKAR1A,WIPI1 WIPI1 ENSG00000267009 Na Na Na Na Na Na Het;C>T 459;14|17 Ref Hom;C>T 1099;0|41 N N - 17 66872802 66872802 G C snp synonymous SNV C4242G P1414P hydrophobic,neutral hydrophobic,neutral ABCA8 Abca8b ENSG00000141338 ATP binding cassette subfamily A member 8 chr17:66863433-66951533 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] drug-related genes ; Cholesterol, HDL Mice homozygous for a knock-out allele exhibit decreased circulating HDL cholesterol levels on a high-cholesterol diet compared with wild-type mice. ABC-family proteins mediated transport GO:0006810;transport;IDA|GO:0006855;drug transmembrane transport;IEA|GO:0006869;lipid transport;IBA|GO:0042908;xenobiotic transport;IEA|GO:0055085;transmembrane transport;TAS GO:0005743;mitochondrial inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA8 https://www.uniprot.org/uniprot/O94911 https://www.ncbi.nlm.nih.gov/omim/?term=612505 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA8&submit=Quick%0D%8143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA8 rs1481 0.813498 0.7302 0.7890 1 0 0 exonic exonic exonic ABCA8 ABCA8 ENSG00000141338 synonymous SNV synonymous SNV unknown ABCA8:NM_001288985:exon34:c.C4242G:p.P1414P,ABCA8:NM_007168:exon32:c.C4122G:p.P1374P,ABCA8:NM_001288986:exon33:c.C4227G:p.P1409P, ABCA8:uc010wqq.2:exon33:c.C4227G:p.P1409P,ABCA8:uc002jhp.3:exon32:c.C4122G:p.P1374P,ABCA8:uc002jhq.3:exon34:c.C4242G:p.P1414P, UNKNOWN Het;G>C 1898;110|85 Ref Hom;G>C 4734;0|171 N N - 17 66880081 66880081 A G snp intronic ABCA8 Abca8b ENSG00000141338 ATP binding cassette subfamily A member 8 chr17:66863433-66951533 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] drug-related genes ; Cholesterol, HDL Mice homozygous for a knock-out allele exhibit decreased circulating HDL cholesterol levels on a high-cholesterol diet compared with wild-type mice. ABC-family proteins mediated transport GO:0006810;transport;IDA|GO:0006855;drug transmembrane transport;IEA|GO:0006869;lipid transport;IBA|GO:0042908;xenobiotic transport;IEA|GO:0055085;transmembrane transport;TAS GO:0005743;mitochondrial inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA8 https://www.uniprot.org/uniprot/O94911 https://www.ncbi.nlm.nih.gov/omim/?term=612505 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA8&submit=Quick%0D%8143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA8 rs8080098 0.898363 0 0 1 0 0 intronic intronic intronic ABCA8 ABCA8 ENSG00000141338 Na Na Na Na Na Na Het;A>G 118;4|4 Ref Hom;A>G 350;0|9 N N - 17 66883719 66883719 A G snp intronic ABCA8 Abca8b ENSG00000141338 ATP binding cassette subfamily A member 8 chr17:66863433-66951533 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] drug-related genes ; Cholesterol, HDL Mice homozygous for a knock-out allele exhibit decreased circulating HDL cholesterol levels on a high-cholesterol diet compared with wild-type mice. ABC-family proteins mediated transport GO:0006810;transport;IDA|GO:0006855;drug transmembrane transport;IEA|GO:0006869;lipid transport;IBA|GO:0042908;xenobiotic transport;IEA|GO:0055085;transmembrane transport;TAS GO:0005743;mitochondrial inner membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA8 https://www.uniprot.org/uniprot/O94911 https://www.ncbi.nlm.nih.gov/omim/?term=612505 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA8&submit=Quick%0D%8143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA8 rs6501839 0.898363 0 0 1 0 0 intronic intronic intronic ABCA8 ABCA8 ENSG00000141338 Na Na Na Na Na Na Het;A>G 232;19|10 Ref Hom;A>G 1116;0|33 N N - 17 66987254 66987254 C G snp intronic ABCA9 Abca9 ENSG00000154258 ATP binding cassette subfamily A member 9 chr17:66970629-67057205 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Stroke ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0055085;transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA9 https://www.uniprot.org/uniprot/Q8IUA7 https://www.ncbi.nlm.nih.gov/omim/?term=612507 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA9&submit=Quick%0D%9749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA9 rs2302292 0.611821 0 0 1 0 0 intronic intronic intronic ABCA9 ABCA9 ENSG00000154258 Na Na Na Na Na Na Het;C>G 42;3|2 Ref Hom;C>G 92;0|3 N N - 17 67221257 67221261 AAAAC A indel intronic ABCA10 ENSG00000154263 ATP binding cassette subfamily A member 10 chr17:67143355-67240987 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit decreased circulating HDL cholesterol levels on a high-cholesterol diet compared with wild-type mice. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA10 https://www.uniprot.org/uniprot/Q8WWZ4 https://www.ncbi.nlm.nih.gov/omim/?term=612508 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA10&submit=Quick%0D%9751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA10 rs145436046 0.360823 0 0 1 0 0 intronic intronic intronic ABCA10 ABCA10 ENSG00000154263 Na Na Na Na Na Na Het;-AAAC 71;1|3 Ref Hom;-AAAC 188;0|5 N N - 17 67229787 67229787 T C snp ncRNA_exonic PRO1804 rs11871771 0.382788 0 0 1 0 0 ncRNA_exonic intronic intronic PRO1804 ABCA10 ENSG00000154263 Na Na Na Na Na Na Het;T>C 3168;173|136 Het;T>C 2399;150|103 Hom;T>C 7511;4|267 N N - 17 67260926 67260926 A G snp synonymous SNV T3265C L1089L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA5 Abca5 ENSG00000154265 ATP binding cassette subfamily A member 5 chr17:67240452-67323385 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] lung cancer ; bladder cancer; Lipoproteins, LDL; lung cancer; drug-related genes ; Parkinson Disease; chronic obstructive pulmonary disease Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;ISS|GO:0033344;cholesterol efflux;ISS|GO:0034375;high-density lipoprotein particle remodeling;ISS|GO:0043691;reverse cholesterol transport;IC|GO:0055085;transmembrane transport;TAS GO:0000139;Golgi membrane;IEA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;ISS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA5 https://www.uniprot.org/uniprot/Q8WWZ7 https://hpo.jax.org/app/browse/search?q=ABCA5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612503 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA5&submit=Quick%0D%9752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA5 rs12449649 0.379393 0.3911 0.4368 1 0 0 exonic exonic exonic ABCA5 ABCA5 ENSG00000154265 synonymous SNV synonymous SNV unknown ABCA5:NM_018672:exon23:c.T3265C:p.L1089L,ABCA5:NM_172232:exon24:c.T3265C:p.L1089L, ABCA5:uc002jib.2:exon3:c.T163C:p.L55L,ABCA5:uc002jic.2:exon10:c.T934C:p.L312L,ABCA5:uc002jif.2:exon23:c.T3265C:p.L1089L,ABCA5:uc002jig.2:exon24:c.T3265C:p.L1089L,ABCA5:uc002jid.2:exon10:c.T16C:p.L6L, UNKNOWN Het;A>G 865;28|38 Het;A>G 751;35|36 Hom;A>G 2085;0|73 N N - 17 67274054 67274054 C A snp intronic ABCA5 Abca5 ENSG00000154265 ATP binding cassette subfamily A member 5 chr17:67240452-67323385 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] lung cancer ; bladder cancer; Lipoproteins, LDL; lung cancer; drug-related genes ; Parkinson Disease; chronic obstructive pulmonary disease Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;ISS|GO:0033344;cholesterol efflux;ISS|GO:0034375;high-density lipoprotein particle remodeling;ISS|GO:0043691;reverse cholesterol transport;IC|GO:0055085;transmembrane transport;TAS GO:0000139;Golgi membrane;IEA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;ISS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA5 https://www.uniprot.org/uniprot/Q8WWZ7 https://hpo.jax.org/app/browse/search?q=ABCA5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612503 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA5&submit=Quick%0D%9752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA5 rs12452340 0.375799 0 0 1 0 0 intronic intronic intronic ABCA5 ABCA5 ENSG00000154265 Na Na Na Na Na Na Het;C>A 198;4|9 Het;C>A 252;12|11 Hom;C>A 625;0|21 N N - 17 67282332 67282332 T C snp intronic ABCA5 Abca5 ENSG00000154265 ATP binding cassette subfamily A member 5 chr17:67240452-67323385 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] lung cancer ; bladder cancer; Lipoproteins, LDL; lung cancer; drug-related genes ; Parkinson Disease; chronic obstructive pulmonary disease Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;ISS|GO:0033344;cholesterol efflux;ISS|GO:0034375;high-density lipoprotein particle remodeling;ISS|GO:0043691;reverse cholesterol transport;IC|GO:0055085;transmembrane transport;TAS GO:0000139;Golgi membrane;IEA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;ISS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA5 https://www.uniprot.org/uniprot/Q8WWZ7 https://hpo.jax.org/app/browse/search?q=ABCA5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612503 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA5&submit=Quick%0D%9752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA5 rs1550828 0.383387 0.3952 0.4437 1 0 0 intronic intronic intronic ABCA5 ABCA5 ENSG00000154265 Na Na Na Na Na Na Het;T>C 586;15|24 Het;T>C 299;22|15 Hom;T>C 1428;0|46 N N - 17 67297176 67297176 T C snp intronic ABCA5 Abca5 ENSG00000154265 ATP binding cassette subfamily A member 5 chr17:67240452-67323385 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] lung cancer ; bladder cancer; Lipoproteins, LDL; lung cancer; drug-related genes ; Parkinson Disease; chronic obstructive pulmonary disease Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;ISS|GO:0033344;cholesterol efflux;ISS|GO:0034375;high-density lipoprotein particle remodeling;ISS|GO:0043691;reverse cholesterol transport;IC|GO:0055085;transmembrane transport;TAS GO:0000139;Golgi membrane;IEA|GO:0005764;lysosome;ISS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;ISS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA5 https://www.uniprot.org/uniprot/Q8WWZ7 https://hpo.jax.org/app/browse/search?q=ABCA5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612503 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA5&submit=Quick%0D%9752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA5 rs12938097 0.379792 0 0 1 0 0 intronic intronic intronic ABCA5 ABCA5 ENSG00000154265 Na Na Na Na Na Na Het;T>C 318;11|10 Het;T>C 357;2|10 Hom;T>C 601;0|15 N N - 17 68063631 68063631 G A snp ncRNA_exonic LINC01028 rs1013996 0.903954 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01028 BX647864 ENSG00000267603 Na Na Na Na Na Na Het;G>A 1978;106|86 Het;G>A 2465;103|109 Hom;G>A 6103;2|227 N N - 17 68063714 68063714 C G snp ncRNA_exonic LINC01028 rs1013995 0.949681 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01028 BX647864 ENSG00000267603 Na Na Na Na Na Na Het;C>G 2361;64|61 Het;C>G 2783;81|73 Hom;C>G 5996;0|136 N N - 17 68063716 68063716 G A snp ncRNA_exonic LINC01028 rs1013994 0.949681 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01028 BX647864 ENSG00000267603 Na Na Na Na Na Na Het;G>A 2361;62|61 Het;G>A 2783;81|72 Hom;G>A 5996;0|130 N N - 17 68063919 68063919 C A snp ncRNA_exonic LINC01028 rs7209397 0.903954 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01028 BX647864 ENSG00000267603 Na Na Na Na Na Na Het;C>A 994;48|42 Het;C>A 1656;67|75 Hom;C>A 3505;0|126 N N - 17 68569973 68569973 A G snp intergenic KCNJ2 Kcnj2 ENSG00000123700 potassium voltage-gated channel subfamily J member 2 chr17:68164814-68176189 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008] Factor VII; Odontogenesis; Arrhythmias, Cardiac|Long QT Syndrome; primary tooth development ; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; Long QT Syndrome; SIDS/sudden infant death syndrome; Stroke; QT interval Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0010107;potassium ion import;IDA|GO:0014861;regulation of skeletal muscle contraction via regulation of action potential;IMP|GO:0015693;magnesium ion transport;IEA|GO:0030007;cellular potassium ion homeostasis;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0055119;relaxation of cardiac muscle;IMP|GO:0060075;regulation of resting membrane potential;TAS|GO:0060306;regulation of membrane repolarization;IDA|GO:0061337;cardiac conduction;TAS|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086001;cardiac muscle cell action potential;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086004;regulation of cardiac muscle cell contraction;IEA|GO:0086011;membrane repolarization during action potential;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086013;membrane repolarization during cardiac muscle cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090076;relaxation of skeletal muscle;IMP|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;IEA|GO:0030425;dendrite;IEA|GO:0031224;intrinsic component of membrane;IDA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS|GO:0042802;identical protein binding;IEA|GO:0086008;voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;IMP http://www.genecards.org/index.php?path=/Search/keyword/KCNJ2 https://www.uniprot.org/uniprot/P63252 https://hpo.jax.org/app/browse/search?q=KCNJ2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600681 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ2&submit=Quick%0D%5559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ2 rs415298 0 0 0 1 0 0 intergenic intergenic intergenic KCNJ2(dist=393790),CASC17(dist=523942) KCNJ2(dist=393790),BC039327(dist=523942) ENSG00000267109(dist=204916),ENSG00000267471(dist=55085) Na Na Na Na Na Na Het;A>G 447;11|11 Het;A>G 323;9|9 Hom;A>G 781;0|18 N N - 17 68569977 68569977 A G snp intergenic KCNJ2 Kcnj2 ENSG00000123700 potassium voltage-gated channel subfamily J member 2 chr17:68164814-68176189 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008] Factor VII; Odontogenesis; Arrhythmias, Cardiac|Long QT Syndrome; primary tooth development ; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; Long QT Syndrome; SIDS/sudden infant death syndrome; Stroke; QT interval Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0010107;potassium ion import;IDA|GO:0014861;regulation of skeletal muscle contraction via regulation of action potential;IMP|GO:0015693;magnesium ion transport;IEA|GO:0030007;cellular potassium ion homeostasis;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051289;protein homotetramerization;IDA|GO:0055119;relaxation of cardiac muscle;IMP|GO:0060075;regulation of resting membrane potential;TAS|GO:0060306;regulation of membrane repolarization;IDA|GO:0061337;cardiac conduction;TAS|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086001;cardiac muscle cell action potential;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086004;regulation of cardiac muscle cell contraction;IEA|GO:0086011;membrane repolarization during action potential;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086013;membrane repolarization during cardiac muscle cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0090076;relaxation of skeletal muscle;IMP|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;IEA|GO:0030425;dendrite;IEA|GO:0031224;intrinsic component of membrane;IDA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA GO:0005242;inward rectifier potassium channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0015467;G-protein activated inward rectifier potassium channel activity;TAS|GO:0042802;identical protein binding;IEA|GO:0086008;voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;IMP http://www.genecards.org/index.php?path=/Search/keyword/KCNJ2 https://www.uniprot.org/uniprot/P63252 https://hpo.jax.org/app/browse/search?q=KCNJ2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600681 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ2&submit=Quick%0D%5559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ2 rs59635203 0 0 0 1 0 0 intergenic intergenic intergenic KCNJ2(dist=393794),CASC17(dist=523938) KCNJ2(dist=393794),BC039327(dist=523938) ENSG00000267109(dist=204920),ENSG00000267471(dist=55081) Na Na Na Na Na Na Het;A>G 447;11|13 Het;A>G 323;9|9 Hom;A>G 772;0|18 N N - 17 70026609 70026609 A G snp ncRNA_exonic LINC01152 rs11657434 0.439497 0 0 1 0 0 upstream upstream ncRNA_exonic LINC01152 D43770 ENSG00000256124 Na Na Na Na Na Na Het;A>G 41;3|3 Ref Hom;A>G 155;0|5 N N - 17 71192663 71192663 G A snp synonymous SNV G333A Q111Q polar,hydrophilic,neutral polar,hydrophilic,neutral COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1052706 0.449481 0.4468 0.4969 1 0 0 exonic exonic exonic COG1 COG1 ENSG00000166685 synonymous SNV synonymous SNV unknown COG1:NM_018714:exon2:c.G333A:p.Q111Q, COG1:uc002jjg.3:exon2:c.G333A:p.Q111Q,COG1:uc002jjh.3:exon2:c.G333A:p.Q111Q,COG1:uc002jjf.1:exon2:c.G333A:p.Q111Q, UNKNOWN Het;G>A 750;19|30 Het;G>A 515;18|22 Hom;G>A 1148;0|40 N N - 17 71192873 71192873 A G snp synonymous SNV A543G A181A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs11544800 0.451278 0.4487 0.5013 1 0 0 exonic exonic exonic COG1 COG1 ENSG00000166685 synonymous SNV synonymous SNV unknown COG1:NM_018714:exon2:c.A543G:p.A181A, COG1:uc002jjg.3:exon2:c.A543G:p.A181A,COG1:uc002jjh.3:exon2:c.A543G:p.A181A,COG1:uc002jjf.1:exon2:c.A543G:p.A181A, UNKNOWN Het;A>G 1962;71|87 Het;A>G 1697;67|80 Hom;A>G 3607;2|136 N N - 17 71192955 71192955 C T snp intronic COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1010442 0.523962 0 0 1 0 0 intronic intronic intronic COG1 COG1 ENSG00000166685 Na Na Na Na Na Na Het;C>T 1417;74|66 Het;C>T 1383;63|59 Hom;C>T 2785;1|101 N N - 17 71193594 71193594 G A snp intronic COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs7221701 0.521565 0 0 1 0 0 intronic intronic intronic COG1 COG1 ENSG00000166685 Na Na Na Na Na Na Het;G>A 342;12|13 Het;G>A 191;11|8 Hom;G>A 540;0|19 N N - 17 71195949 71195949 C T snp intronic COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1009110 0.525958 0 0 1 0 0 intronic intronic intronic COG1 COG1 ENSG00000166685 Na Na Na Na Na Na Het;C>T 321;10|12 Het;C>T 132;10|6 Hom;C>T 758;0|24 N N - 17 71196809 71196809 A G snp nonsynonymous SNV A1175G N392S polar,hydrophilic,neutral polar,hydrophilic,neutral COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1026128 0.520966 0.5321 0.5231 0.08 1 13 exonic exonic exonic COG1 COG1 ENSG00000166685 nonsynonymous SNV nonsynonymous SNV unknown COG1:NM_018714:exon6:c.A1175G:p.N392S, COG1:uc002jjg.3:exon6:c.A1175G:p.N392S,COG1:uc002jjh.3:exon6:c.A1175G:p.N392S,COG1:uc002jjf.1:exon6:c.A1175G:p.N392S, UNKNOWN Het;A>G 1710;107|77 Het;A>G 2140;89|89 Hom;A>G 4862;1|174 N N - 17 71196995 71196995 G A snp intronic COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1026129 0.520966 0 0 1 0 0 intronic intronic intronic COG1 COG1 ENSG00000166685 Na Na Na Na Na Na Het;G>A 523;28|20 Het;G>A 398;11|15 Hom;G>A 674;1|26 N N - 17 71197748 71197748 G A snp synonymous SNV G1782A E594E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1037256 0.525359 0.5351 0.5235 1 0 0 exonic exonic exonic COG1 COG1 ENSG00000166685 synonymous SNV synonymous SNV unknown COG1:NM_018714:exon7:c.G1782A:p.E594E, COG1:uc002jjg.3:exon7:c.G1782A:p.E594E,COG1:uc002jjh.3:exon7:c.G1782A:p.E594E,COG1:uc002jjf.1:exon7:c.G1782A:p.E594E, UNKNOWN Het;G>A 1991;113|88 Het;G>A 1958;78|80 Hom;G>A 5324;2|193 N N - 17 71223424 71223425 GA G indel intronic FAM104A Fam104a ENSG00000133193 family with sequence similarity 104 member A chr17:71203492-71232892 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM104A https://www.uniprot.org/uniprot/Q969W3 http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A rs71154980 0 0 0.4295 1 0 0 intronic intronic intronic FAM104A FAM104A ENSG00000133193 Na Na Na Na Na Na Het;-A 96;6|7 Het;-A 164;7|11 Hom;-A 302;2|16 N N - 17 71223501 71223501 T C snp intronic FAM104A Fam104a ENSG00000133193 family with sequence similarity 104 member A chr17:71203492-71232892 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM104A https://www.uniprot.org/uniprot/Q969W3 http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A rs17184168 0.520168 0 0 1 0 0 intronic intronic intronic FAM104A FAM104A ENSG00000133193 Na Na Na Na Na Na Het;T>C 60;5|3 Het;T>C 210;2|8 Hom;T>C 151;0|5 N N - 17 71223837 71223837 C T snp UTR5 -43G>A FAM104A Fam104a ENSG00000133193 family with sequence similarity 104 member A chr17:71203492-71232892 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM104A https://www.uniprot.org/uniprot/Q969W3 http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A rs9904267 0.490415 0 0.5 1 0 0 UTR5 intronic UTR5 FAM104A(NM_001289412:c.-43G>A) FAM104A ENSG00000133193(ENST00000579872:c.-43G>A) Na Na Na Na Na Na Het;C>T 1042;59|50 Het;C>T 966;67|46 Hom;C>T 4107;0|155 N N - 17 71223967 71223967 A T snp intronic FAM104A Fam104a ENSG00000133193 family with sequence similarity 104 member A chr17:71203492-71232892 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM104A https://www.uniprot.org/uniprot/Q969W3 http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A rs8076745 0.490415 0 0 1 0 0 intronic intronic intronic FAM104A FAM104A ENSG00000133193 Na Na Na Na Na Na Het;A>T 251;1|8 Het;A>T 89;5|4 Hom;A>T 272;0|8 N N - 17 71228066 71228066 A G snp intronic FAM104A Fam104a ENSG00000133193 family with sequence similarity 104 member A chr17:71203492-71232892 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM104A https://www.uniprot.org/uniprot/Q969W3 http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A rs3764362 0.522963 0 0 1 0 0 intronic intronic intronic FAM104A FAM104A ENSG00000133193 Na Na Na Na Na Na Het;A>G 97;9|5 Het;A>G 40;3|3 Hom;A>G 157;0|7 N N - 17 71228767 71228767 A C snp UTR5 -2855A>C C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs3736364 0.526158 0 0 1 0 0 UTR5 intronic UTR5 C17orf80(NM_017941:c.-2855A>C,NM_001100622:c.-2855A>C,NM_001100621:c.-2855A>C) C17orf80 ENSG00000141219(ENST00000585109:c.-2855A>C) Na Na Na Na Na Na Het;A>C 802;68|43 Het;A>C 956;56|48 Hom;A>C 1925;1|79 N N - 17 71228937 71228937 C T snp UTR5 -2685C>T C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1466115 0.496206 0 0 1 0 0 intronic intronic UTR5 C17orf80 C17orf80 ENSG00000141219(ENST00000582391:c.-2685C>T) Na Na Na Na Na Na Het;C>T 325;15|10 Het;C>T 652;11|18 Hom;C>T 1033;0|27 N N - 17 71228952 71228952 T G snp UTR5 -2670T>G C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1466116 0.527157 0 0 1 0 0 intronic intronic UTR5 C17orf80 C17orf80 ENSG00000141219(ENST00000582391:c.-2670T>G) Na Na Na Na Na Na Het;T>G 266;14|8 Het;T>G 566;9|14 Hom;T>G 867;0|18 N N - 17 71229351 71229351 C T snp UTR5 -2271C>T C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1466118 0.532748 0 0 1 0 0 intronic intronic UTR5 C17orf80 C17orf80 ENSG00000141219(ENST00000582391:c.-2271C>T) Na Na Na Na Na Na Het;C>T 535;33|27 Het;C>T 766;22|35 Hom;C>T 1373;0|49 N N - 17 71231604 71231604 A C snp intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs3751925 0.519968 0.5293 0.5315 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;A>C 428;18|15 Het;A>C 465;13|18 Hom;A>C 1033;0|31 N N - 17 71232687 71232687 T C snp nonsynonymous SNV T1066C F356L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs745143 0.519369 0.5309 0.5234 0.15 2 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L, C17orf80:uc010wqu.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjk.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjm.4:exon3:c.T1066C:p.F356L,C17orf80:uc010dfj.3:exon3:c.T1066C:p.F356L,C17orf80:uc002jjl.4:exon3:c.T1066C:p.F356L, UNKNOWN Het;T>C 1849;80|70 Het;T>C 1983;74|74 Hom;T>C 4137;1|143 N N - 17 71232807 71232807 T C snp nonsynonymous SNV T1186C C396R polar,hydrophobic,neutral polar,hydrophilic,charged(+) C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs904383 0.522364 0.5335 0.5259 0.08 1 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R, C17orf80:uc010wqu.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjk.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjm.4:exon3:c.T1186C:p.C396R,C17orf80:uc010dfj.3:exon3:c.T1186C:p.C396R,C17orf80:uc002jjl.4:exon3:c.T1186C:p.C396R, UNKNOWN Het;T>C 1121;57|49 Het;T>C 1103;62|49 Hom;T>C 4707;0|105 N N - 17 71232881 71232881 G C snp nonsynonymous SNV G1260C Q420H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs745142 0.521765 0.5337 0.5259 0.15 2 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H, C17orf80:uc010wqu.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjk.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjm.4:exon3:c.G1260C:p.Q420H,C17orf80:uc010dfj.3:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjl.4:exon3:c.G1260C:p.Q420H, UNKNOWN Het;G>C 1106;56|45 Het;G>C 1308;78|57 Hom;G>C 2745;0|94 N N - 17 71233130 71233130 A G snp synonymous SNV A1509G S503S polar,hydrophilic,neutral polar,hydrophilic,neutral C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs11869253 0.519569 0.5378 0.5337 1 0 0 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 synonymous SNV synonymous SNV unknown C17orf80:NM_001100621:exon3:c.A1509G:p.S503S,C17orf80:NM_001288770:exon3:c.A1509G:p.S503S,C17orf80:NM_017941:exon3:c.A1509G:p.S503S,C17orf80:NM_001288771:exon3:c.A1509G:p.S503S,C17orf80:NM_001100622:exon3:c.A1509G:p.S503S, C17orf80:uc010wqu.1:exon3:c.A1509G:p.S503S,C17orf80:uc002jjk.1:exon3:c.A1509G:p.S503S,C17orf80:uc002jjm.4:exon3:c.A1509G:p.S503S,C17orf80:uc010dfj.3:exon3:c.A1509G:p.S503S,C17orf80:uc002jjl.4:exon3:c.A1509G:p.S503S, UNKNOWN Het;A>G 1222;46|49 Het;A>G 690;57|34 Hom;A>G 2702;0|95 N N - 17 71238433 71238433 G A snp nonsynonymous SNV G1564A A522T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1566286 0.515974 0.5264 0.5217 0.15 2 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_017941:exon4:c.G1564A:p.A522T,C17orf80:NM_001100622:exon4:c.G1564A:p.A522T, C17orf80:uc002jjk.1:exon4:c.G1564A:p.A522T,C17orf80:uc002jjm.4:exon4:c.G1564A:p.A522T, UNKNOWN Het;G>A 533;22|24 Het;G>A 658;25|31 Hom;G>A 1511;0|59 N N - 17 71238525 71238525 A G snp intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1566287 0.515974 0.5261 0.5219 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;A>G 566;20|24 Het;A>G 845;27|38 Hom;A>G 1520;2|63 N N - 17 71239000 71239000 T C snp intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs2270726 0.515974 0.5268 0.5384 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;T>C 1315;35|34 Het;T>C 919;31|25 Hom;T>C 1386;1|51 N N - 17 71239016 71239016 C T snp intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs2270727 0.516174 0.5264 0.5382 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;C>T 1436;46|42 Het;C>T 965;43|29 Hom;C>T 1916;1|72 N N - 17 71239190 71239190 A T snp intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs2270728 0.516573 0.5248 0.5344 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;A>T 329;11|11 Het;A>T 556;13|18 Hom;A>T 1478;0|37 N N - 17 71239214 71239216 GAA G indel intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs138600770 0 0 0.5726 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;-AA 258;6|7 Het;-AA 538;9|13 Hom;-AA 1172;0|26 N N - 17 71239227 71239227 T TG indel intronic C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 Na 0 0 0.4123 1 0 0 intronic intronic intronic C17orf80 C17orf80 ENSG00000141219 Na Na Na Na Na Na Het;+G 200;5|5 Het;+G 137;9|10 Hom;+G 683;0|16 N N - 17 71239234 71239234 T TTTTG indel ncRNA_exonic AC087301.1 rs35605599 0.0117812 0 0.3945 1 0 0 intronic intronic ncRNA_exonic C17orf80 C17orf80 ENSG00000265010 Na Na Na Na Na Na Het;+TTTG 74;5|3 Het;+TTTG 393;7|12 Hom;+TTTG 599;0|14 N N - 17 71244166 71244166 C G snp UTR3 *686C>G C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1472454 0.694489 0 0 1 0 0 UTR3 UTR3 UTR3 C17orf80(NM_001288770:c.*686C>G,NM_017941:c.*686C>G,NM_001100621:c.*686C>G) C17orf80(uc010dfj.3:c.*686C>G,uc002jjm.4:c.*686C>G,uc002jjl.4:c.*686C>G) ENSG00000141219(ENST00000359042:c.*686C>G,ENST00000268942:c.*686C>G) Na Na Na Na Na Na Het;C>G 1901;85|78 Het;C>G 2362;76|101 Hom;C>G 4092;0|143 N N - 17 71244630 71244630 C T snp UTR3 *1150C>T C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs8915 0.698083 0.7488 0.7255 1 0 0 UTR3 UTR3 UTR3 C17orf80(NM_001288770:c.*1150C>T,NM_017941:c.*1150C>T,NM_001100621:c.*1150C>T),CPSF4L(NM_001129885:c.*3G>A) C17orf80(uc010dfj.3:c.*1150C>T,uc002jjm.4:c.*1150C>T,uc002jjl.4:c.*1150C>T),CPSF4L(uc010dfk.1:c.*3G>A) ENSG00000141219(ENST00000359042:c.*1150C>T,ENST00000268942:c.*1150C>T),ENSG00000187959(ENST00000344935:c.*3G>A) Na Na Na Na Na Na Het;C>T 3075;141|131 Het;C>T 3015;130|135 Hom;C>T 6249;6|232 N N - 17 71245120 71245120 A T snp intronic CPSF4L Cpsf4l ENSG00000187959 cleavage and polyadenylation specific factor 4 like chr17:71244588-71258491 Tobacco Use Disorder GO:0006378;mRNA polyadenylation;IBA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA GO:0003723;RNA binding;IEA|GO:0004521;endoribonuclease activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPSF4L http://www.informatics.jax.org/searchtool/Search.do?query=CPSF4L&submit=Quick%0D%15935ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF4L rs12944257 0.700479 0 0 1 0 0 intronic intronic intronic CPSF4L CPSF4L ENSG00000187959 Na Na Na Na Na Na Het;A>T 295;8|12 Het;A>T 245;16|13 Hom;A>T 468;0|17 N N - 17 71564929 71564929 G GAA indel intronic SDK2 Sdk2 ENSG00000069188 sidekick cell adhesion molecule 2 chr17:71330523-71640228 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008] Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells. SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDK2 https://www.uniprot.org/uniprot/Q58EX2 https://www.ncbi.nlm.nih.gov/omim/?term=607217 http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2 rs34711924 0.391374 0 0 1 0 0 intronic intronic intronic SDK2 SDK2 ENSG00000069188 Na Na Na Na Na Na Het;+AA 376;13|11 Het;+AA 364;13|11 Hom;+AA 830;0|19 N N - 17 71610273 71610273 T C snp intronic SDK2 Sdk2 ENSG00000069188 sidekick cell adhesion molecule 2 chr17:71330523-71640228 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008] Blood Cells; Glucose; Metabolism; Panic Disorder; Iron; Diabetes Mellitus; panic disorder Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells. SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007416;synapse assembly;IEA|GO:0010842;retina layer formation;IEA|GO:0045216;cell-cell junction organization;TAS|GO:0060219;camera-type eye photoreceptor cell differentiation;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDK2 https://www.uniprot.org/uniprot/Q58EX2 https://www.ncbi.nlm.nih.gov/omim/?term=607217 http://www.informatics.jax.org/searchtool/Search.do?query=SDK2&submit=Quick%0D%1310ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK2 rs55700214 0.3748 0 0 1 0 0 intronic intronic intronic SDK2 SDK2 ENSG00000069188 Na Na Na Na Na Na Het;T>C 175;5|6 Het;T>C 80;5|4 Hom;T>C 132;0|5 N N - 17 7228479 7228479 C T snp intronic NEURL4 Neurl4 ENSG00000215041 neuralized E3 ubiquitin protein ligase 4 chr17:7218947-7232712 The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008] GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NEURL4 https://www.ncbi.nlm.nih.gov/omim/?term=615865 http://www.informatics.jax.org/searchtool/Search.do?query=NEURL4&submit=Quick%0D%18302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL4 rs201566486 0.45647 0.1035 0.6009 1 0 0 intronic intronic intronic NEURL4 NEURL4 ENSG00000215041 Na Na Na Na Na Na Het;C>T 159;2|5 Het;C>T 193;1|6 Hom;C>T 349;0|9 N N - 17 72368550 72368550 T C snp synonymous SNV T1200C N400N polar,hydrophilic,neutral polar,hydrophilic,neutral GPR142 Gpr142 ENSG00000257008 G protein-coupled receptor 142 chr17:72363546-72368761 GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR142 https://www.ncbi.nlm.nih.gov/omim/?term=609046 http://www.informatics.jax.org/searchtool/Search.do?query=GPR142&submit=Quick%0D%20218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR142 rs11658891 0.595647 0.6410 0.5901 1 0 0 exonic exonic exonic GPR142 GPR142 ENSG00000257008 synonymous SNV synonymous SNV unknown GPR142:NM_181790:exon4:c.T1200C:p.N400N, GPR142:uc021ucp.1:exon4:c.T1191C:p.N397N,GPR142:uc010wqy.2:exon4:c.T1200C:p.N400N, UNKNOWN Het;T>C 2377;92|96 Het;T>C 2140;58|88 Hom;T>C 3901;0|132 N N - 17 72519798 72519798 C T snp intronic CD300LB Cd300lb ENSG00000178789 CD300 molecule like family member b chr17:72517313-72527613 CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder Mice homozygous for a null mutation do not display any gross abnormalities and are protected from ischemia reperfusion induced renal injury. DAP12 interactions GO:0002376;immune system process;IEA|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD300LB https://www.ncbi.nlm.nih.gov/omim/?term=610705 http://www.informatics.jax.org/searchtool/Search.do?query=CD300LB&submit=Quick%0D%14232ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD300LB rs1472726 0.448083 0.5457 0.5141 1 0 0 intronic intronic intronic CD300LB CD300LB ENSG00000178789 Na Na Na Na Na Na Het;C>T 524;42|28 Het;C>T 287;27|19 Hom;C>T 1757;0|67 N N - 17 72537894 72537894 A G snp intronic CD300C Cd300c ENSG00000167850 CD300c molecule chr17:72537247-72542282 The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008] Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0002376;immune system process;IEA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CD300C https://www.ncbi.nlm.nih.gov/omim/?term=606786 http://www.informatics.jax.org/searchtool/Search.do?query=CD300C&submit=Quick%0D%12130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD300C rs2140253 0.536342 0.5873 0.5316 1 0 0 intronic intronic intronic CD300C CD300C ENSG00000167850 Na Na Na Na Na Na Het;A>G 868;45|40 Het;A>G 1186;30|46 Hom;A>G 3035;0|109 N N - 17 72545857 72545857 A G snp ncRNA_intronic AC079325.1 rs783236 0.401158 0 0 1 0 0 intergenic intergenic ncRNA_intronic CD300C(dist=3547),CD300LD(dist=30254) CD300C(dist=3547),CD300LD(dist=30254) ENSG00000236770 Na Na Na Na Na Na Het;A>G 113;3|4 Ref Hom;A>G 104;0|4 N N - 17 72791088 72791088 A AG indel intronic TMEM104 Tmem104 ENSG00000109066 transmembrane protein 104 chr17:72772622-72835918 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM104 https://www.uniprot.org/uniprot/Q8NE00 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM104&submit=Quick%0D%3808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM104 rs3830567 0.633187 0 0 1 0 0 intronic intronic intronic TMEM104 TMEM104 ENSG00000109066 Na Na Na Na Na Na Het;+G 200;14|12 Ref Hom;+G 277;0|9 N N - 17 72791618 72791618 A G snp intronic TMEM104 Tmem104 ENSG00000109066 transmembrane protein 104 chr17:72772622-72835918 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM104 https://www.uniprot.org/uniprot/Q8NE00 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM104&submit=Quick%0D%3808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM104 rs7221435 0.788738 0.8259 0.8574 1 0 0 intronic intronic intronic TMEM104 TMEM104 ENSG00000109066 Na Na Na Na Na Na Het;A>G 669;31|31 Het;A>G 424;21|20 Hom;A>G 921;0|35 N N - 17 72839130 72839130 A AGCTCCGGGG indel nonframeshift substitution 3146_3146delinsCCCCGGAGCT GRIN2C Grin2c ENSG00000161509 glutamate ionotropic receptor NMDA type subunit 2C chr17:72838162-72857627 This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Bipolar Disorder; schizophrenia; alcohol consumption; Weight Gain Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices. Synaptic adhesion-like molecules GO:0000165;MAPK cascade;TAS|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0008104;protein localization;IEA|GO:0009611;response to wounding;IEA|GO:0033058;directional locomotion;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRIN2C https://www.ncbi.nlm.nih.gov/omim/?term=138254 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN2C&submit=Quick%0D%10578ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN2C rs139495021 0.796326 0.8310 0.7857 1 0 0 exonic exonic exonic GRIN2C GRIN2C ENSG00000161509 nonframeshift substitution nonframeshift substitution unknown GRIN2C:NM_000835:exon13:c.3146_3146delinsCCCCGGAGCT, GRIN2C:uc002jlt.1:exon13:c.3146_3146delinsCCCCGGAGCT, UNKNOWN Het;+GCTCCGGGG 463;29|14 Het;+GCTCCGGGG 355;23|11 Hom;+GCTCCGGGG 1931;0|40 N N - 17 72851133 72851133 A G snp synonymous SNV T99C A33A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GRIN2C Grin2c ENSG00000161509 glutamate ionotropic receptor NMDA type subunit 2C chr17:72838162-72857627 This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Bipolar Disorder; schizophrenia; alcohol consumption; Weight Gain Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices. Synaptic adhesion-like molecules GO:0000165;MAPK cascade;TAS|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0008104;protein localization;IEA|GO:0009611;response to wounding;IEA|GO:0033058;directional locomotion;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRIN2C https://www.ncbi.nlm.nih.gov/omim/?term=138254 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN2C&submit=Quick%0D%10578ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN2C rs689730 0.795927 0.8763 0.8568 1 0 0 exonic exonic exonic GRIN2C GRIN2C ENSG00000161509 synonymous SNV synonymous SNV unknown GRIN2C:NM_001278553:exon2:c.T99C:p.A33A,GRIN2C:NM_000835:exon2:c.T99C:p.A33A, GRIN2C:uc002jlu.1:exon2:c.T99C:p.A33A,GRIN2C:uc002jlt.1:exon2:c.T99C:p.A33A,GRIN2C:uc002jlv.1:exon2:c.T99C:p.A33A, UNKNOWN Het;A>G 1842;76|77 Het;A>G 1273;68|57 Hom;A>G 3269;1|124 N N - 17 72943126 72943126 G A snp synonymous SNV G1176A A392A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OTOP3 Otop3 ENSG00000182938 otopetrin 3 chr17:72931814-72946087 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOP3 https://www.ncbi.nlm.nih.gov/omim/?term=607828 http://www.informatics.jax.org/searchtool/Search.do?query=OTOP3&submit=Quick%0D%14885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOP3 rs8066909 0.290735 0 0.4232 1 0 0 exonic exonic exonic OTOP3 OTOP3 ENSG00000182938 synonymous SNV synonymous SNV unknown OTOP3:NM_178233:exon6:c.G1176A:p.A392A,OTOP3:NM_001272005:exon6:c.G1122A:p.A374A, OTOP3:uc010wrr.3:exon6:c.G1176A:p.A392A,OTOP3:uc010wrq.3:exon6:c.G1122A:p.A374A, UNKNOWN Het;G>A 2348;112|99 Het;G>A 2185;125|93 Hom;G>A 7234;2|260 N N - 17 72951845 72951845 G A snp intronic HID1 Hid1 ENSG00000167861 HID1 domain containing chr17:72946838-72969261 GO:0006886;intracellular protein transport;IDA|GO:0031001;response to brefeldin A;IDA GO:0000138;Golgi trans cisterna;IDA|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005797;Golgi medial cisterna;IDA|GO:0005829;cytosol;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0090498;extrinsic component of Golgi membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HID1 https://www.ncbi.nlm.nih.gov/omim/?term=605752 http://www.informatics.jax.org/searchtool/Search.do?query=HID1&submit=Quick%0D%12132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HID1 rs9903414 0.670327 0.7805 0.8324 1 0 0 intronic intronic intronic HID1 HID1 ENSG00000167861 Na Na Na Na Na Na Het;G>A 435;19|18 Het;G>A 421;10|15 Hom;G>A 1318;0|33 N N - 17 72956124 72956124 G A snp synonymous SNV C948T A316A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HID1 Hid1 ENSG00000167861 HID1 domain containing chr17:72946838-72969261 GO:0006886;intracellular protein transport;IDA|GO:0031001;response to brefeldin A;IDA GO:0000138;Golgi trans cisterna;IDA|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005797;Golgi medial cisterna;IDA|GO:0005829;cytosol;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0090498;extrinsic component of Golgi membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HID1 https://www.ncbi.nlm.nih.gov/omim/?term=605752 http://www.informatics.jax.org/searchtool/Search.do?query=HID1&submit=Quick%0D%12132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HID1 rs3744198 0.244209 0.3944 0.3712 1 0 0 exonic exonic exonic HID1 HID1 ENSG00000167861 synonymous SNV synonymous SNV unknown HID1:NM_030630:exon7:c.C948T:p.A316A, HID1:uc002jmj.4:exon7:c.C948T:p.A316A,HID1:uc002jmk.2:exon7:c.C945T:p.A315A,HID1:uc010wrs.2:exon7:c.C345T:p.A115A, UNKNOWN Het;G>A 2409;124|108 Het;G>A 2125;131|102 Hom;G>A 5189;2|190 N N - 17 72959000 72959000 G C snp intronic HID1 Hid1 ENSG00000167861 HID1 domain containing chr17:72946838-72969261 GO:0006886;intracellular protein transport;IDA|GO:0031001;response to brefeldin A;IDA GO:0000138;Golgi trans cisterna;IDA|GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005797;Golgi medial cisterna;IDA|GO:0005829;cytosol;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0090498;extrinsic component of Golgi membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HID1 https://www.ncbi.nlm.nih.gov/omim/?term=605752 http://www.informatics.jax.org/searchtool/Search.do?query=HID1&submit=Quick%0D%12132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HID1 rs7503218 0.255192 0 0 1 0 0 intronic intronic intronic HID1 HID1 ENSG00000167861 Na Na Na Na Na Na Het;G>C 410;11|15 Het;G>C 302;23|14 Hom;G>C 896;0|30 N N - 17 73089852 73089852 T C snp synonymous SNV T121C L41L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC16A5 Slc16a5 ENSG00000170190 solute carrier family 16 member 5 chr17:73083822-73102257 This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC16A5 https://www.ncbi.nlm.nih.gov/omim/?term=603879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A5&submit=Quick%0D%12647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A5 rs4788863 0.625399 0.7304 0.6986 1 0 0 exonic exonic exonic SLC16A5 SLC16A5 ENSG00000170190 synonymous SNV synonymous SNV unknown SLC16A5:NM_001271765:exon3:c.T121C:p.L41L,SLC16A5:NM_004695:exon3:c.T121C:p.L41L, SLC16A5:uc002jmr.4:exon3:c.T121C:p.L41L,SLC16A5:uc010wrt.2:exon2:c.T241C:p.L81L,SLC16A5:uc002jmu.4:exon2:c.T121C:p.L41L,SLC16A5:uc002jmt.4:exon3:c.T121C:p.L41L, UNKNOWN Het;T>C 1828;89|81 Het;T>C 1481;81|72 Hom;T>C 4063;0|151 N N - 17 73094072 73094075 TCTC T indel intronic SLC16A5 Slc16a5 ENSG00000170190 solute carrier family 16 member 5 chr17:73083822-73102257 This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC16A5 https://www.ncbi.nlm.nih.gov/omim/?term=603879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A5&submit=Quick%0D%12647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A5 rs10598249 0.35004 0 0 1 0 0 intronic intronic intronic SLC16A5 SLC16A5 ENSG00000170190 Na Na Na Na Na Na Het;-CTC 874;31|24 Het;-CTC 850;33|24 Hom;-CTC 1589;0|37 N N - 17 73110144 73110144 G T snp intronic ARMC7 Armc7 ENSG00000125449 armadillo repeat containing 7 chr17:73106047-73126360 GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016342;catenin complex;IBA GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IBA|GO:0045294;alpha-catenin binding;IBA|GO:0045296;cadherin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ARMC7 https://www.uniprot.org/uniprot/Q9H6L4 http://www.informatics.jax.org/searchtool/Search.do?query=ARMC7&submit=Quick%0D%5775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC7 rs1531565 0.49361 0 0 1 0 0 intronic intronic intronic ARMC7 ARMC7 ENSG00000125449 Na Na Na Na Na Na Het;G>T 158;11|7 Het;G>T 178;9|8 Hom;G>T 513;0|16 N N - 17 73110279 73110279 C T snp UTR3 *2C>T ARMC7 Armc7 ENSG00000125449 armadillo repeat containing 7 chr17:73106047-73126360 GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016342;catenin complex;IBA GO:0005515;protein binding;IPI|GO:0019903;protein phosphatase binding;IBA|GO:0045294;alpha-catenin binding;IBA|GO:0045296;cadherin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ARMC7 https://www.uniprot.org/uniprot/Q9H6L4 http://www.informatics.jax.org/searchtool/Search.do?query=ARMC7&submit=Quick%0D%5775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC7 rs1531564 0.523762 0 0.5889 1 0 0 UTR3 intronic UTR3 ARMC7(NM_001304273:c.*2C>T) ARMC7 ENSG00000125449(ENST00000582136:c.*2C>T) Na Na Na Na Na Na Het;C>T 1118;66|58 Het;C>T 981;59|49 Hom;C>T 3354;0|131 N N - 17 73204530 73204530 T C snp intronic NUP85 Nup85 ENSG00000125450 nucleoporin 85 chr17:73201754-73231853 This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] HIV Infections|[X]Human immunodeficiency virus disease; Waist Circumference Mitotic Prometaphase GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006935;chemotaxis;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0030032;lamellipodium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IBA|GO:0048246;macrophage chemotaxis;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/NUP85 https://www.uniprot.org/uniprot/Q9BW27 https://hpo.jax.org/app/browse/search?q=NUP85&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=170285 http://www.informatics.jax.org/searchtool/Search.do?query=NUP85&submit=Quick%0D%5776ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP85 rs899326 0.733626 0 0 1 0 0 intronic intronic intronic NUP85 NUP85 ENSG00000125450 Na Na Na Na Na Na Het;T>C 78;4|3 Ref Hom;T>C 336;0|9 N N - 17 73208205 73208205 G GTGTT indel intronic NUP85 Nup85 ENSG00000125450 nucleoporin 85 chr17:73201754-73231853 This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] HIV Infections|[X]Human immunodeficiency virus disease; Waist Circumference Mitotic Prometaphase GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006935;chemotaxis;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0030032;lamellipodium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IBA|GO:0048246;macrophage chemotaxis;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/NUP85 https://www.uniprot.org/uniprot/Q9BW27 https://hpo.jax.org/app/browse/search?q=NUP85&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=170285 http://www.informatics.jax.org/searchtool/Search.do?query=NUP85&submit=Quick%0D%5776ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP85 rs56406015 0.364816 0 0.5166 1 0 0 intronic intronic intronic NUP85 NUP85 ENSG00000125450 Na Na Na Na Na Na Het;+TGTT 1326;35|41 Het;+TGTT 1048;43|35 Hom;+TGTT 2902;0|73 N N - 17 73221439 73221439 C T snp synonymous SNV C735T P245P hydrophobic,neutral hydrophobic,neutral NUP85 Nup85 ENSG00000125450 nucleoporin 85 chr17:73201754-73231853 This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] HIV Infections|[X]Human immunodeficiency virus disease; Waist Circumference Mitotic Prometaphase GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006935;chemotaxis;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0030032;lamellipodium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IBA|GO:0048246;macrophage chemotaxis;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/NUP85 https://www.uniprot.org/uniprot/Q9BW27 https://hpo.jax.org/app/browse/search?q=NUP85&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=170285 http://www.informatics.jax.org/searchtool/Search.do?query=NUP85&submit=Quick%0D%5776ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP85 rs2291029 0.86901 0.9129 0.9558 1 0 0 exonic exonic exonic NUP85 NUP85 ENSG00000125450 synonymous SNV synonymous SNV unknown NUP85:NM_024844:exon9:c.C735T:p.P245P,NUP85:NM_001303276:exon8:c.C597T:p.P199P, NUP85:uc010wrv.1:exon8:c.C597T:p.P199P,NUP85:uc002jng.1:exon9:c.C735T:p.P245P, UNKNOWN Het;C>T 1858;102|85 Het;C>T 1509;81|70 Hom;C>T 5533;1|203 N N - 17 73228236 73228236 C T snp intronic NUP85 Nup85 ENSG00000125450 nucleoporin 85 chr17:73201754-73231853 This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] HIV Infections|[X]Human immunodeficiency virus disease; Waist Circumference Mitotic Prometaphase GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006935;chemotaxis;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0030032;lamellipodium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IBA|GO:0048246;macrophage chemotaxis;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IEA GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/NUP85 https://www.uniprot.org/uniprot/Q9BW27 https://hpo.jax.org/app/browse/search?q=NUP85&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=170285 http://www.informatics.jax.org/searchtool/Search.do?query=NUP85&submit=Quick%0D%5776ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP85 rs899319 0.88139 0 0 1 0 0 intronic intronic intronic NUP85 NUP85 ENSG00000125450 Na Na Na Na Na Na Het;C>T 160;9|6 Ref Hom;C>T 81;0|3 N N - 17 73242895 73242895 A G snp intronic GGA3 Gga3 ENSG00000125447 golgi associated, gamma adaptin ear containing, ARF binding protein 3 chr17:73232694-73258444 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] Mice homozygous for a gene-trapped allele display decreased birth weight, slow postnatal weight gain, hypoglycemia, increased plasma levels of acid hydrolases, and partial neonatal lethality. Amyloid fiber formation GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0031901;early endosome membrane;TAS|GO:0055038;recycling endosome membrane;TAS GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GGA3 https://www.uniprot.org/uniprot/Q9NZ52 https://www.ncbi.nlm.nih.gov/omim/?term=606006 http://www.informatics.jax.org/searchtool/Search.do?query=GGA3&submit=Quick%0D%5774ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA3 rs2242230 0.709864 0.7054 0.8033 1 0 0 intronic intronic intronic GGA3 GGA3 ENSG00000125447 Na Na Na Na Na Na Het;A>G 778;38|33 Het;A>G 392;15|16 Hom;A>G 1572;0|56 N N - 17 73242935 73242935 A G snp intronic GGA3 Gga3 ENSG00000125447 golgi associated, gamma adaptin ear containing, ARF binding protein 3 chr17:73232694-73258444 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] Mice homozygous for a gene-trapped allele display decreased birth weight, slow postnatal weight gain, hypoglycemia, increased plasma levels of acid hydrolases, and partial neonatal lethality. Amyloid fiber formation GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0031901;early endosome membrane;TAS|GO:0055038;recycling endosome membrane;TAS GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GGA3 https://www.uniprot.org/uniprot/Q9NZ52 https://www.ncbi.nlm.nih.gov/omim/?term=606006 http://www.informatics.jax.org/searchtool/Search.do?query=GGA3&submit=Quick%0D%5774ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA3 rs2242231 0.721446 0.7243 0 1 0 0 intronic intronic intronic GGA3 GGA3 ENSG00000125447 Na Na Na Na Na Na Het;A>G 398;17|16 Het;A>G 211;9|8 Hom;A>G 893;0|27 N N - 17 73257986 73257986 C T snp nonsynonymous SNV C5T A2V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MRPS7 Mrps7 ENSG00000125445 mitochondrial ribosomal protein S7 chr17:73257755-73262454 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial translation termination GO:0006412;translation;IEA|GO:0032543;mitochondrial translation;ISS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;ISS http://www.genecards.org/index.php?path=/Search/keyword/MRPS7 https://www.uniprot.org/uniprot/Q9Y2R9 https://hpo.jax.org/app/browse/search?q=MRPS7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611974 http://www.informatics.jax.org/searchtool/Search.do?query=MRPS7&submit=Quick%0D%5773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPS7 rs8075276 0.657348 0.6599 0.7958 0.31 4 13 exonic exonic exonic MRPS7 MRPS7 ENSG00000125445 nonsynonymous SNV nonsynonymous SNV unknown MRPS7:NM_015971:exon1:c.C5T:p.A2V, MRPS7:uc002jnm.4:exon1:c.C5T:p.A2V, UNKNOWN Het;C>T 348;11|17 Het;C>T 432;13|20 Hom;C>T 1578;0|63 N N - 17 73267831 73267831 G T snp ncRNA_exonic LOC100287042 rs3809716 0.536342 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic LOC100287042 LOC100287042(uc021ucy.1:c.-294G>T) ENSG00000263843 Na Na Na Na Na Na Het;G>T 2325;100|104 Het;G>T 1581;85|73 Hom;G>T 4942;0|175 N N - 17 73268801 73268801 C T snp nonsynonymous SNV C677T A226V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LOC100287042 rs3744231 0.536741 0 0.6524 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC100287042 LOC100287042 ENSG00000263843 Na nonsynonymous SNV Na Na LOC100287042:uc021ucy.1:exon1:c.C677T:p.A226V, Na Het;C>T 1729;111|77 Het;C>T 1797;100|80 Hom;C>T 4721;2|170 N N - 17 73268904 73268904 C T snp ncRNA_exonic LOC100287042 rs3744230 0.536542 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC100287042 LOC100287042(uc021ucy.1:c.*66C>T) ENSG00000263843 Na Na Na Na Na Na Het;C>T 2114;79|88 Het;C>T 1229;63|56 Hom;C>T 4142;0|149 N N - 17 73269258 73269258 G C snp ncRNA_exonic LOC100287042 rs7198 0.536542 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC100287042 LOC100287042(uc021ucy.1:c.*420G>C),SLC25A19(uc010dge.3:c.*274C>G,uc002jns.4:c.*274C>G,uc002jnv.4:c.*274C>G,uc002jnu.4:c.*274C>G,uc002jnw.4:c.*274C>G,uc002jnt.4:c.*274C>G) ENSG00000263843 Na Na Na Na Na Na Het;G>C 1760;113|75 Het;G>C 1725;86|70 Hom;G>C 4976;2|176 N N - 17 73269676 73269676 C T snp synonymous SNV G819A L273L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC25A19 Slc25a19 ENSG00000125454 solute carrier family 25 member 19 chr17:73269073-73285591 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Neuroblastoma Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. Vitamin B1 (thiamin) metabolism GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0030302;deoxynucleotide transport;NAS|GO:0030974;thiamine pyrophosphate transport;IBA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0055085;transmembrane transport;IEA|GO:0071934;thiamine transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0015234;thiamine transmembrane transporter activity;IBA|GO:0030233;deoxynucleotide transmembrane transporter activity;TAS|GO:0090422;thiamine pyrophosphate transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A19 https://www.uniprot.org/uniprot/Q9HC21 https://hpo.jax.org/app/browse/search?q=SLC25A19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606521 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A19&submit=Quick%0D%5777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A19 rs4789164 0.530152 0.5031 0.6517 1 0 0 exonic exonic exonic SLC25A19 SLC25A19 ENSG00000125454 synonymous SNV synonymous SNV unknown SLC25A19:NM_001126121:exon8:c.G819A:p.L273L,SLC25A19:NM_001126122:exon7:c.G819A:p.L273L,SLC25A19:NM_021734:exon8:c.G819A:p.L273L, SLC25A19:uc002jnt.4:exon9:c.G819A:p.L273L,SLC25A19:uc002jns.4:exon6:c.G819A:p.L273L,SLC25A19:uc002jnu.4:exon8:c.G819A:p.L273L,SLC25A19:uc002jnw.4:exon7:c.G819A:p.L273L,SLC25A19:uc010dge.3:exon5:c.G648A:p.L216L,SLC25A19:uc002jnv.4:exon8:c.G819A:p.L273L, UNKNOWN Het;C>T 2022;94|86 Het;C>T 1738;68|76 Hom;C>T 4385;0|160 N N - 17 73279624 73279624 A G snp synonymous SNV T339C Y113Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic SLC25A19 Slc25a19 ENSG00000125454 solute carrier family 25 member 19 chr17:73269073-73285591 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Neuroblastoma Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. Vitamin B1 (thiamin) metabolism GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0030302;deoxynucleotide transport;NAS|GO:0030974;thiamine pyrophosphate transport;IBA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0055085;transmembrane transport;IEA|GO:0071934;thiamine transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0015234;thiamine transmembrane transporter activity;IBA|GO:0030233;deoxynucleotide transmembrane transporter activity;TAS|GO:0090422;thiamine pyrophosphate transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A19 https://www.uniprot.org/uniprot/Q9HC21 https://hpo.jax.org/app/browse/search?q=SLC25A19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606521 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A19&submit=Quick%0D%5777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A19 rs7213318 0.889577 0.9360 0.9617 1 0 0 exonic exonic exonic SLC25A19 SLC25A19 ENSG00000125454 synonymous SNV synonymous SNV unknown SLC25A19:NM_001126121:exon5:c.T339C:p.Y113Y,SLC25A19:NM_001126122:exon4:c.T339C:p.Y113Y,SLC25A19:NM_021734:exon5:c.T339C:p.Y113Y, SLC25A19:uc002jnt.4:exon6:c.T339C:p.Y113Y,SLC25A19:uc002jns.4:exon3:c.T339C:p.Y113Y,SLC25A19:uc002jnu.4:exon5:c.T339C:p.Y113Y,SLC25A19:uc002jnw.4:exon4:c.T339C:p.Y113Y,SLC25A19:uc002jnv.4:exon5:c.T339C:p.Y113Y, UNKNOWN Het;A>G 782;35|30 Het;A>G 607;34|26 Hom;A>G 1695;0|61 N N - 17 73282299 73282299 C T snp intronic SLC25A19 Slc25a19 ENSG00000125454 solute carrier family 25 member 19 chr17:73269073-73285591 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Neuroblastoma Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. Vitamin B1 (thiamin) metabolism GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0030302;deoxynucleotide transport;NAS|GO:0030974;thiamine pyrophosphate transport;IBA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0055085;transmembrane transport;IEA|GO:0071934;thiamine transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0015234;thiamine transmembrane transporter activity;IBA|GO:0030233;deoxynucleotide transmembrane transporter activity;TAS|GO:0090422;thiamine pyrophosphate transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A19 https://www.uniprot.org/uniprot/Q9HC21 https://hpo.jax.org/app/browse/search?q=SLC25A19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606521 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A19&submit=Quick%0D%5777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A19 rs2306218 0.546725 0 0 1 0 0 intronic intronic intronic SLC25A19 SLC25A19 ENSG00000125454 Na Na Na Na Na Na Het;C>T 183;13|9 Het;C>T 350;5|12 Hom;C>T 495;0|16 N N - 17 73282636 73282636 C T snp intronic SLC25A19 Slc25a19 ENSG00000125454 solute carrier family 25 member 19 chr17:73269073-73285591 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Neuroblastoma Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. Vitamin B1 (thiamin) metabolism GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0030302;deoxynucleotide transport;NAS|GO:0030974;thiamine pyrophosphate transport;IBA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0055085;transmembrane transport;IEA|GO:0071934;thiamine transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0015234;thiamine transmembrane transporter activity;IBA|GO:0030233;deoxynucleotide transmembrane transporter activity;TAS|GO:0090422;thiamine pyrophosphate transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A19 https://www.uniprot.org/uniprot/Q9HC21 https://hpo.jax.org/app/browse/search?q=SLC25A19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606521 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A19&submit=Quick%0D%5777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A19 rs2306219 0.692292 0 0 1 0 0 intronic intronic intronic SLC25A19 SLC25A19 ENSG00000125454 Na Na Na Na Na Na Het;C>T 658;23|24 Het;C>T 483;15|18 Hom;C>T 1090;0|33 N N - 17 73282962 73282962 C A snp UTR5 -117G>T SLC25A19 Slc25a19 ENSG00000125454 solute carrier family 25 member 19 chr17:73269073-73285591 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Neuroblastoma Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. Vitamin B1 (thiamin) metabolism GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0030302;deoxynucleotide transport;NAS|GO:0030974;thiamine pyrophosphate transport;IBA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0055085;transmembrane transport;IEA|GO:0071934;thiamine transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0015234;thiamine transmembrane transporter activity;IBA|GO:0030233;deoxynucleotide transmembrane transporter activity;TAS|GO:0090422;thiamine pyrophosphate transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A19 https://www.uniprot.org/uniprot/Q9HC21 https://hpo.jax.org/app/browse/search?q=SLC25A19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606521 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A19&submit=Quick%0D%5777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A19 rs6501774 0.691893 0 0 1 0 0 intronic UTR5 UTR5 SLC25A19 SLC25A19(uc002jns.4:c.-117G>T) ENSG00000125454(ENST00000402418:c.-117G>T) Na Na Na Na Na Na Het;C>A 187;12|8 Het;C>A 99;4|5 Hom;C>A 560;0|19 N N - 17 73285461 73285461 A C snp UTR5 -2616T>G SLC25A19 Slc25a19 ENSG00000125454 solute carrier family 25 member 19 chr17:73269073-73285591 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Neuroblastoma Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria. Vitamin B1 (thiamin) metabolism GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0030302;deoxynucleotide transport;NAS|GO:0030974;thiamine pyrophosphate transport;IBA|GO:0042723;thiamine-containing compound metabolic process;TAS|GO:0055085;transmembrane transport;IEA|GO:0071934;thiamine transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0015234;thiamine transmembrane transporter activity;IBA|GO:0030233;deoxynucleotide transmembrane transporter activity;TAS|GO:0090422;thiamine pyrophosphate transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A19 https://www.uniprot.org/uniprot/Q9HC21 https://hpo.jax.org/app/browse/search?q=SLC25A19&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606521 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A19&submit=Quick%0D%5777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A19 rs2291033 0.861222 0 0 1 0 0 UTR5 UTR5 UTR5 SLC25A19(NM_021734:c.-2616T>G,NM_001126121:c.-2616T>G,NM_001126122:c.-2616T>G) SLC25A19(uc002jnv.4:c.-2616T>G,uc002jnu.4:c.-2616T>G,uc002jnw.4:c.-2616T>G,uc002jnt.4:c.-2616T>G) ENSG00000125454(ENST00000416858:c.-2616T>G,ENST00000320362:c.-2616T>G,ENST00000442286:c.-2616T>G,ENST00000580994:c.-2616T>G,ENST00000583332:c.-2616T>G,ENST00000580273:c.-5802T>G,ENST00000580151:c.-2616T>G,ENST00000584438:c.-2616T>G) Na Na Na Na Na Na Het;A>C 262;29|16 Het;A>C 538;34|28 Hom;A>C 1196;0|44 N N - 17 73316679 73316679 G C snp intronic GRB2 Grb2 ENSG00000177885 growth factor receptor bound protein 2 chr17:73314157-73401790 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] plasma HDL cholesterol (HDL-C) levels; Neuroblastoma; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Bulimia; Alzheimer's disease Embryos homozygous for a targeted null mutation lack expanded inner cell masses, show only a few endodermal cells, and die by embryonic day 7.5. Heterozygotes have defective T cell signaling and lack the cardiac hypertrophy response to pressure overload. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000165;MAPK cascade;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007411;axon guidance;TAS|GO:0007568;aging;IEA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016032;viral process;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031295;T cell costimulation;TAS|GO:0031623;receptor internalization;IMP|GO:0035635;entry of bacterium into host cell;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042770;signal transduction in response to DNA damage;IMP|GO:0043408;regulation of MAPK cascade;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IBA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0050900;leukocyte migration;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0060670;branching involved in labyrinthine layer morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:0071479;cellular response to ionizing radiation;IMP|GO:2000379;positive regulation of reactive oxygen species metabolic process;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0008180;COP9 signalosome;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0070436;Grb2-EGFR complex;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0003723;RNA binding;IDA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005168;neurotrophin TRKA receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0017124;SH3 domain binding;IDA|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0051219;phosphoprotein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRB2 https://www.ncbi.nlm.nih.gov/omim/?term=108355 http://www.informatics.jax.org/searchtool/Search.do?query=GRB2&submit=Quick%0D%14100ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB2 rs8079197 0.558107 0.5584 0.6965 1 0 0 intronic intronic intronic GRB2 GRB2 ENSG00000177885 Na Na Na Na Na Na Het;G>C 402;18|16 Het;G>C 305;9|10 Hom;G>C 850;0|29 N N - 17 73317644 73317644 C T snp intronic GRB2 Grb2 ENSG00000177885 growth factor receptor bound protein 2 chr17:73314157-73401790 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] plasma HDL cholesterol (HDL-C) levels; Neuroblastoma; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Bulimia; Alzheimer's disease Embryos homozygous for a targeted null mutation lack expanded inner cell masses, show only a few endodermal cells, and die by embryonic day 7.5. Heterozygotes have defective T cell signaling and lack the cardiac hypertrophy response to pressure overload. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000165;MAPK cascade;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007411;axon guidance;TAS|GO:0007568;aging;IEA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016032;viral process;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031295;T cell costimulation;TAS|GO:0031623;receptor internalization;IMP|GO:0035635;entry of bacterium into host cell;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042770;signal transduction in response to DNA damage;IMP|GO:0043408;regulation of MAPK cascade;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IBA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0050900;leukocyte migration;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0060670;branching involved in labyrinthine layer morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:0071479;cellular response to ionizing radiation;IMP|GO:2000379;positive regulation of reactive oxygen species metabolic process;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0008180;COP9 signalosome;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0070436;Grb2-EGFR complex;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0003723;RNA binding;IDA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005168;neurotrophin TRKA receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0017124;SH3 domain binding;IDA|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0051219;phosphoprotein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRB2 https://www.ncbi.nlm.nih.gov/omim/?term=108355 http://www.informatics.jax.org/searchtool/Search.do?query=GRB2&submit=Quick%0D%14100ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB2 rs12946365 0.590056 0 0 1 0 0 intronic intronic intronic GRB2 GRB2 ENSG00000177885 Na Na Na Na Na Na Het;C>T 270;3|9 Het;C>T 51;1|3 Hom;C>T 313;0|9 N N - 17 73498623 73498623 A G snp synonymous SNV T2286C S762S polar,hydrophilic,neutral polar,hydrophilic,neutral CASKIN2 Caskin2 ENSG00000177303 CASK interacting protein 2 chr17:73496342-73511664 This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] GO:0008150;biological_process;ND GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IBA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CASKIN2 https://www.ncbi.nlm.nih.gov/omim/?term=612185 http://www.informatics.jax.org/searchtool/Search.do?query=CASKIN2&submit=Quick%0D%14005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CASKIN2 rs7502835 0.452875 0.5682 0.6943 1 0 0 exonic exonic exonic CASKIN2 CASKIN2 ENSG00000177303 synonymous SNV synonymous SNV unknown CASKIN2:NM_001142643:exon17:c.T2286C:p.S762S,CASKIN2:NM_020753:exon18:c.T2532C:p.S844S, CASKIN2:uc010wsc.3:exon17:c.T2286C:p.S762S,CASKIN2:uc002joc.4:exon18:c.T2532C:p.S844S, UNKNOWN Het;A>G 1154;88|58 Het;A>G 1284;57|61 Hom;A>G 3132;1|117 N N - 17 73587784 73587784 A G snp synonymous SNV A207G R69R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MYO15B Myo15b ENSG00000266714 myosin XVB chr17:73584139-73622929 GO:0005856;cytoskeleton;IEA|GO:0005903;brush border;IEA|GO:0016459;myosin complex;IEA GO:0003774;motor activity;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO15B http://www.informatics.jax.org/searchtool/Search.do?query=MYO15B&submit=Quick%0D%20628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO15B rs936056 0.611821 0 0.6569 1 0 0 ncRNA_exonic exonic exonic MYO15B MYO15B ENSG00000266714 Na synonymous SNV unknown Na MYO15B:uc002jon.1:exon3:c.A207G:p.R69R, UNKNOWN Het;A>G 1330;81|64 Het;A>G 1166;80|59 Hom;A>G 3443;2|123 N N - 17 73753661 73753661 C T snp UTR3 *25C>T ITGB4 Itgb4 ENSG00000132470 integrin subunit beta 4 chr17:73717408-73753899 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Leukemia, Lymphocytic, Chronic, B-Cell; breast cancer ; Type 2 Diabetes| edema | rosiglitazone Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence. Type I hemidesmosome assembly GO:0006914;autophagy;IMP|GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;NAS|GO:0007160;cell-matrix adhesion;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0009611;response to wounding;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0035878;nail development;IMP|GO:0043588;skin development;IMP|GO:0048333;mesodermal cell differentiation;IEP|GO:0048565;digestive tract development;IMP|GO:0048870;cell motility;IMP|GO:0072001;renal system development;IMP|GO:0097186;amelogenesis;IMP GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IDA|GO:0031252;cell leading edge;IDA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001664;G-protein coupled receptor binding;IPI|GO:0004872;receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0031994;insulin-like growth factor I binding;IDA|GO:0038132;neuregulin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ITGB4 https://www.uniprot.org/uniprot/P16144 https://hpo.jax.org/app/browse/search?q=ITGB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147557 http://www.informatics.jax.org/searchtool/Search.do?query=ITGB4&submit=Quick%0D%6680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGB4 rs9367 0.652955 0.7095 0.7379 1 0 0 UTR3 UTR3 UTR3 ITGB4(NM_000213:c.*25C>T,NM_001005731:c.*25C>T,NM_001005619:c.*25C>T) ITGB4(uc002jpg.3:c.*25C>T,uc002jph.3:c.*25C>T,uc002jpi.4:c.*25C>T,uc002jpj.3:c.*25C>T) ENSG00000132470(ENST00000579662:c.*25C>T,ENST00000339591:c.*25C>T,ENST00000200181:c.*25C>T,ENST00000450894:c.*25C>T,ENST00000449880:c.*25C>T,ENST00000578318:c.*259C>T) Na Na Na Na Na Na Het;C>T 3420;201|186 Het;C>T 3315;168|179 Hom;C>T 8584;0|379 N N - 17 73759552 73759552 G A snp intronic GALK1 Galk1 ENSG00000108479 galactokinase 1 chr17:73747675-73761792 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008] cataract, senile; age-related cataract; Galactokinase deficiency; Type 2 Diabetes| edema | rosiglitazone; Galactosemias| Mice homozygous for a knock-out allele are unable to metabolize galactose, display tissue accumulation of galactose and galactitol, but do not form cataracts even when fed a high galactose diet. Galactose catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006012;galactose metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0019388;galactose catabolic process;TAS|GO:0019402;galactitol metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0061623;glycolytic process from galactose;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004335;galactokinase activity;EXP|GO:0005524;ATP binding;IDA|GO:0005534;galactose binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALK1 https://www.uniprot.org/uniprot/P51570 https://hpo.jax.org/app/browse/search?q=GALK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604313 http://www.informatics.jax.org/searchtool/Search.do?query=GALK1&submit=Quick%0D%3722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALK1 rs7209235 0.692891 0.6580 0.7135 1 0 0 intronic intronic intronic GALK1 GALK1 ENSG00000108479 Na Na Na Na Na Na Het;G>A 1732;52|72 Het;G>A 1160;56|53 Hom;G>A 2727;0|95 N N - 17 73982127 73982127 T A snp ncRNA_intronic TEN1-CDK3 ENSG00000261408 TEN1-CDK3 readthrough (NMD candidate) chr17:73975312-74002080 This locus represents naturally occurring read-through transcription between the neighboring TEN1 telomerase capping complex subunit homolog (S. cerevisiae) and cyclin-dependent kinase 3 (CDK3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Oct 2011] http://www.genecards.org/index.php?path=/Search/keyword/TEN1-CDK3 http://www.informatics.jax.org/searchtool/Search.do?query=TEN1-CDK3&submit=Quick%0D%20408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEN1-CDK3 rs8073730 0.183506 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic TEN1-CDK3 ACOX1(dist=6612),CDK3(dist=14860) ENSG00000261408 Na Na Na Na Na Na Het;T>A 31;3|3 Het;T>A 52;3|4 Hom;T>A 56;0|4 N N - 17 73987373 73987373 T C snp ncRNA_intronic TEN1-CDK3 ENSG00000261408 TEN1-CDK3 readthrough (NMD candidate) chr17:73975312-74002080 This locus represents naturally occurring read-through transcription between the neighboring TEN1 telomerase capping complex subunit homolog (S. cerevisiae) and cyclin-dependent kinase 3 (CDK3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Oct 2011] http://www.genecards.org/index.php?path=/Search/keyword/TEN1-CDK3 http://www.informatics.jax.org/searchtool/Search.do?query=TEN1-CDK3&submit=Quick%0D%20408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEN1-CDK3 rs6501847 0.486621 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic TEN1-CDK3 ACOX1(dist=11858),CDK3(dist=9614) ENSG00000261408 Na Na Na Na Na Na Het;T>C 148;3|5 Het;T>C 82;1|3 Hom;T>C 180;0|6 N N - 17 74007846 74007846 A G snp intronic EVPL Evpl ENSG00000167880 envoplakin chr17:74000583-74023533 This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016] Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development. Formation of the cornified envelope GO:0008544;epidermis development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0019215;intermediate filament binding;IEA|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EVPL https://www.ncbi.nlm.nih.gov/omim/?term=601590 http://www.informatics.jax.org/searchtool/Search.do?query=EVPL&submit=Quick%0D%12136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVPL rs2290251 0.278355 0.3129 0.2926 1 0 0 intronic intronic intronic EVPL EVPL ENSG00000167880 Na Na Na Na Na Na Het;A>G 767;35|34 Het;A>G 828;28|36 Hom;A>G 1836;0|65 N N - 17 74015819 74015819 A T snp intronic EVPL Evpl ENSG00000167880 envoplakin chr17:74000583-74023533 This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016] Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development. Formation of the cornified envelope GO:0008544;epidermis development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0019215;intermediate filament binding;IEA|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EVPL https://www.ncbi.nlm.nih.gov/omim/?term=601590 http://www.informatics.jax.org/searchtool/Search.do?query=EVPL&submit=Quick%0D%12136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVPL rs79643517 0.14377 0 0 1 0 0 intronic intronic intronic EVPL EVPL ENSG00000167880 Na Na Na Na Na Na Het;A>T 296;4|11 Het;A>T 167;8|8 Hom;A>T 516;0|16 N N - 17 74017492 74017501 CCCGCCCCTG C indel intronic EVPL Evpl ENSG00000167880 envoplakin chr17:74000583-74023533 This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016] Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development. Formation of the cornified envelope GO:0008544;epidermis development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0019215;intermediate filament binding;IEA|GO:0030674;protein binding, bridging;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EVPL https://www.ncbi.nlm.nih.gov/omim/?term=601590 http://www.informatics.jax.org/searchtool/Search.do?query=EVPL&submit=Quick%0D%12136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVPL rs758213125 0 0 0 1 0 0 intronic intronic intronic EVPL EVPL ENSG00000167880 Na Na Na Na Na Na Het;-CCGCCCCTG 986;32|27 Het;-CCGCCCCTG 644;19|19 Hom;-CCGCCCCTG 1884;0|44 N N - 17 74718155 74718155 C T snp intronic JMJD6 Jmjd6 ENSG00000070495 arginine demethylase and lysine hydroxylase chr17:74708919-74722866 This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for disruptions in this gene show perinatal lethality. Abnormalities are observed in the nervous. respiratory, cardiovascular, digestive, renal, hematopoietic, and immune systems. HDMs demethylate histones GO:0001568;blood vessel development;IEA|GO:0001822;kidney development;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0008380;RNA splicing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0018395;peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine;IDA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0042116;macrophage activation;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0043654;recognition of apoptotic cell;IEA|GO:0048024;regulation of mRNA splicing, via spliceosome;IMP|GO:0048821;erythrocyte development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0070078;histone H3-R2 demethylation;IDA|GO:0070079;histone H4-R3 demethylation;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004872;receptor activity;IEA|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;TAS|GO:0033746;histone demethylase activity (H3-R2 specific);IDA|GO:0033749;histone demethylase activity (H4-R3 specific);IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070815;peptidyl-lysine 5-dioxygenase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/JMJD6 https://www.uniprot.org/uniprot/Q6NYC1 https://www.ncbi.nlm.nih.gov/omim/?term=604914 http://www.informatics.jax.org/searchtool/Search.do?query=JMJD6&submit=Quick%0D%1359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JMJD6 rs2240769 0.25639 0 0 1 0 0 intronic intronic intronic JMJD6 JMJD6 ENSG00000070495 Na Na Na Na Na Na Het;C>T 211;5|8 Het;C>T 63;3|3 Hom;C>T 197;0|6 N N - 17 74733099 74733099 G A snp synonymous SNV C144T D48D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SRSF2 Srsf2 ENSG00000161547 serine and arginine rich splicing factor 2 chr17:74730197-74733456 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010] Homozygous mutants are embryonic lethal. Deaths occur prior to E7.5. Cre induced inactivation of this pre-mRNA splicing factor in the thymus impairs T-cell maturation. Inactivation in ventricular cardiomyocytes results in dilated cardiomyopathy without gross changes in cardiomyocyte development. mRNA 3'-end processing GO:0000278;mitotic cell cycle;IEA|GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;TAS|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0008380;RNA splicing;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0033197;response to vitamin E;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA|GO:0035061;interchromatin granule;IEA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003714;transcription corepressor activity;NAS|GO:0003723;RNA binding;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0036002;pre-mRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRSF2 https://www.ncbi.nlm.nih.gov/omim/?term=600813 http://www.informatics.jax.org/searchtool/Search.do?query=SRSF2&submit=Quick%0D%10584ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRSF2 rs237057 0.785543 0.7970 0.8886 1 0 0 exonic exonic exonic SRSF2 SRSF2 ENSG00000161547 synonymous SNV synonymous SNV unknown SRSF2:NM_003016:exon1:c.C144T:p.D48D,SRSF2:NM_001195427:exon1:c.C144T:p.D48D, SRSF2:uc010wtg.2:exon1:c.C144T:p.D48D,SRSF2:uc002jsy.4:exon1:c.C144T:p.D48D,SRSF2:uc002jsv.3:exon1:c.C144T:p.D48D, UNKNOWN Het;G>A 2483;104|111 Het;G>A 2274;75|102 Hom;G>A 5050;0|181 N N - 17 75136752 75136752 G GCCCCGC indel intronic SEC14L1 Sec14l1 ENSG00000129657 SEC14 like lipid binding 1 chr17:75082798-75213179 The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011] Psychomotor Performance; HIV Infections|[X]Human immunodeficiency virus disease; Cognitive performance GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0015871;choline transport;IDA|GO:0039536;negative regulation of RIG-I signaling pathway;IMP|GO:0045087;innate immune response;IEA|GO:0065009;regulation of molecular function;IEA GO:0005737;cytoplasm;IC|GO:0005794;Golgi apparatus;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0039552;RIG-I binding;IPI|GO:0098772;molecular function regulator;IDA http://www.genecards.org/index.php?path=/Search/keyword/SEC14L1 https://www.uniprot.org/uniprot/Q92503 https://www.ncbi.nlm.nih.gov/omim/?term=601504 http://www.informatics.jax.org/searchtool/Search.do?query=SEC14L1&submit=Quick%0D%6275ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC14L1 rs149876387 0.0257588 0 0 1 0 0 intronic intronic intronic SEC14L1 SEC14L1 ENSG00000129657 Na Na Na Na Na Na Het;+CCCCGC 580;3|15 Het;+CCCCGC 248;3|7 Hom;+CCCCGC 804;0|18 N N - 17 75494705 75494705 A G snp nonsynonymous SNV A1726G M576V hydrophobic,neutral aliphatic,hydrophobic,neutral SEPT9 Sep9 rs2627223 0.90655 0.8923 0.9371 0.08 1 13 exonic exonic exonic SEPT9 SEPT9 ENSG00000184640 nonsynonymous SNV nonsynonymous SNV unknown SEPT9:NM_001113496:exon10:c.A973G:p.M325V,SEPT9:NM_001113494:exon11:c.A1234G:p.M412V,SEPT9:NM_001113492:exon12:c.A1234G:p.M412V,SEPT9:NM_001113491:exon12:c.A1726G:p.M576V,SEPT9:NM_001293696:exon10:c.A1054G:p.M352V,SEPT9:NM_001293697:exon10:c.A973G:p.M325V,SEPT9:NM_006640:exon11:c.A1672G:p.M558V,SEPT9:NM_001293698:exon10:c.A973G:p.M325V,SEPT9:NM_001113495:exon10:c.A1390G:p.M464V,SEPT9:NM_001113493:exon11:c.A1705G:p.M569V,SEPT9:NM_001293695:exon11:c.A1669G:p.M557V, SEPT9:uc002jts.4:exon12:c.A1726G:p.M576V,SEPT9:uc002jtv.3:exon11:c.A1705G:p.M569V,SEPT9:uc002jtw.3:exon11:c.A1234G:p.M412V,SEPT9:uc010wtm.2:exon10:c.A973G:p.M325V,SEPT9:uc010wtk.2:exon11:c.A1669G:p.M557V,SEPT9:uc002jtt.4:exon12:c.A1234G:p.M412V,SEPT9:uc002jtu.4:exon11:c.A1672G:p.M558V,SEPT9:uc002jty.4:exon10:c.A973G:p.M325V,SEPT9:uc010dhd.3:exon10:c.A1390G:p.M464V,SEPT9:uc010wtn.2:exon10:c.A973G:p.M325V,SEPT9:uc010wtl.2:exon10:c.A1054G:p.M352V, UNKNOWN Het;A>G 336;51|22 Het;A>G 509;32|26 Hom;A>G 2010;0|80 N N - 17 76198754 76198754 T C snp intronic AFMID Afmid ENSG00000183077 arylformamidase chr17:76183398-76203782 Mice homozygous for a knock-out allele exhibit polydipsia, polyuria and hyperglycemia. Mice homozygous for a full exon 2 deletion show impaired glucose tolerance due to reduced insulin secretion associated with reduced islet mass. Tryptophan catabolism GO:0006569;tryptophan catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019441;tryptophan catabolic process to kynurenine;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004061;arylformamidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AFMID http://www.informatics.jax.org/searchtool/Search.do?query=AFMID&submit=Quick%0D%14917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFMID rs35822441 0.754992 0.6803 0.7234 1 0 0 intronic intronic intronic AFMID AFMID ENSG00000183077 Na Na Na Na Na Na Het;T>C 1075;66|52 Het;T>C 1445;57|66 Hom;T>C 4823;0|136 N N - 17 76266115 76266115 T G snp ncRNA_intronic LOC100996291 rs749883 0.696086 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100996291 LOC100996291 ENSG00000204277 Na Na Na Na Na Na Het;T>G 386;11|13 Het;T>G 178;8|7 Hom;T>G 223;0|7 N N - 17 76503624 76503624 C T snp synonymous SNV G4500A E1500E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) DNAH17 Dnah17 ENSG00000187775 dynein axonemal heavy chain 17 chr17:76419778-76573476 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] Celiac Disease| GO:0007018;microtubule-based movement;IEA|GO:0060285;cilium-dependent cell motility;NAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH17 https://www.ncbi.nlm.nih.gov/omim/?term=610063 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH17&submit=Quick%0D%15894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH17 rs626439 0.323682 0.2162 0.2912 1 0 0 exonic exonic exonic DNAH17 DNAH17 ENSG00000187775 synonymous SNV synonymous SNV unknown DNAH17:NM_173628:exon28:c.G4500A:p.E1500E, DNAH17:uc010dhp.2:exon28:c.G4500A:p.E1500E, UNKNOWN Het;C>T 2958;81|124 Het;C>T 2629;101|114 Hom;C>T 5427;2|197 N N - 17 76814782 76814782 G A snp synonymous SNV C990T R330R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) USP36 Usp36 ENSG00000055483 ubiquitin specific peptidase 36 chr17:76783463-76837523 This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016] Parkinson Disease Mice homozygous for a gene trap allele display lethality before implantation and arrest at the morula stage. GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IDA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP36 https://www.uniprot.org/uniprot/Q9P275 https://www.ncbi.nlm.nih.gov/omim/?term=612543 http://www.informatics.jax.org/searchtool/Search.do?query=USP36&submit=Quick%0D%997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP36 rs35273233 0.115615 0.1597 0.1600 1 0 0 exonic exonic exonic USP36 USP36 ENSG00000055483 synonymous SNV synonymous SNV unknown USP36:NM_025090:exon10:c.C990T:p.R330R, USP36:uc002jwa.1:exon10:c.C990T:p.R330R,USP36:uc002jwc.1:exon4:c.C90T:p.R30R,USP36:uc002jvz.1:exon10:c.C990T:p.R330R, UNKNOWN Het;G>A 1603;86|73 Het;G>A 1450;74|67 Hom;G>A 4461;3|172 N N - 17 76816199 76816199 G A snp intronic USP36 Usp36 ENSG00000055483 ubiquitin specific peptidase 36 chr17:76783463-76837523 This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016] Parkinson Disease Mice homozygous for a gene trap allele display lethality before implantation and arrest at the morula stage. GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IDA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP36 https://www.uniprot.org/uniprot/Q9P275 https://www.ncbi.nlm.nih.gov/omim/?term=612543 http://www.informatics.jax.org/searchtool/Search.do?query=USP36&submit=Quick%0D%997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP36 rs7222131 0.215256 0 0 1 0 0 intronic intronic intronic USP36 USP36 ENSG00000055483 Na Na Na Na Na Na Het;G>A 253;6|8 Het;G>A 195;7|7 Hom;G>A 573;0|20 N N - 17 77040185 77040185 G C snp synonymous SNV G135C S45S polar,hydrophilic,neutral polar,hydrophilic,neutral C1QTNF1 C1qtnf1 ENSG00000173918 C1q and TNF related 1 chr17:77018896-77045870 Macular Degeneration Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070208;protein heterotrimerization;IEA|GO:0090331;negative regulation of platelet aggregation;IDA|GO:2000860;positive regulation of aldosterone secretion;IDA GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0005887;integral component of plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF1 https://www.ncbi.nlm.nih.gov/omim/?term=610365 http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF1&submit=Quick%0D%13448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF1 rs4789853 0.459864 0.3696 0.3899 1 0 0 exonic exonic exonic C1QTNF1 C1QTNF1 ENSG00000173918 synonymous SNV synonymous SNV unknown C1QTNF1:NM_153372:exon2:c.G135C:p.S45S,C1QTNF1:NM_030968:exon2:c.G135C:p.S45S,C1QTNF1:NM_198593:exon2:c.G135C:p.S45S, C1QTNF1:uc002jwt.3:exon1:c.G429C:p.S143S,C1QTNF1:uc031rep.1:exon2:c.G135C:p.S45S,C1QTNF1:uc002jwp.4:exon2:c.G135C:p.S45S,C1QTNF1:uc002jwr.4:exon2:c.G165C:p.S55S,C1QTNF1:uc002jws.4:exon2:c.G135C:p.S45S, UNKNOWN Het;G>C 563;22|26 Het;G>C 405;20|19 Hom;G>C 1339;0|50 N N - 17 77045401 77045401 G A snp UTR3 *1231G>A C1QTNF1 C1qtnf1 ENSG00000173918 C1q and TNF related 1 chr17:77018896-77045870 Macular Degeneration Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010906;regulation of glucose metabolic process;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070208;protein heterotrimerization;IEA|GO:0090331;negative regulation of platelet aggregation;IDA|GO:2000860;positive regulation of aldosterone secretion;IDA GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0005887;integral component of plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF1 https://www.ncbi.nlm.nih.gov/omim/?term=610365 http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF1&submit=Quick%0D%13448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF1 rs11769 0.382987 0 0 1 0 0 UTR3 UTR3 UTR3 C1QTNF1(NM_153372:c.*1231G>A,NM_030968:c.*1231G>A,NM_198594:c.*1231G>A,NM_198593:c.*1231G>A) C1QTNF1(uc031rep.1:c.*1231G>A,uc002jwp.4:c.*1231G>A,uc002jwq.4:c.*1231G>A,uc002jwr.4:c.*1231G>A,uc002jws.4:c.*1231G>A,uc002jwt.3:c.*1231G>A) ENSG00000173918(ENST00000339142:c.*1231G>A,ENST00000311661:c.*1231G>A,ENST00000392445:c.*1231G>A) Na Na Na Na Na Na Het;G>A 1925;86|86 Het;G>A 2336;56|103 Hom;G>A 4303;2|161 N N - 17 77070871 77070871 G A snp upstream ENGASE Engase ENSG00000167280 endo-beta-N-acetylglucosaminidase chr17:77071021-77084681 This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006517;protein deglycosylation;IEA|GO:0008152;metabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IBA|GO:0005829;cytosol;TAS GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0033925;mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENGASE https://www.ncbi.nlm.nih.gov/omim/?term=611898 http://www.informatics.jax.org/searchtool/Search.do?query=ENGASE&submit=Quick%0D%11986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENGASE rs8075993 0.363019 0 0 1 0 0 upstream upstream upstream ENGASE ENGASE ENSG00000167280 Na Na Na Na Na Na Het;G>A 235;6|9 Ref Hom;G>A 332;0|13 N N - 17 77071002 77071002 C G snp upstream ENGASE Engase ENSG00000167280 endo-beta-N-acetylglucosaminidase chr17:77071021-77084681 This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006517;protein deglycosylation;IEA|GO:0008152;metabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IBA|GO:0005829;cytosol;TAS GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0033925;mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENGASE https://www.ncbi.nlm.nih.gov/omim/?term=611898 http://www.informatics.jax.org/searchtool/Search.do?query=ENGASE&submit=Quick%0D%11986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENGASE rs8076010 0.392772 0.2144 0.4110 1 0 0 upstream upstream upstream ENGASE ENGASE ENSG00000167280 Na Na Na Na Na Na Het;C>G 399;15|15 Het;C>G 256;17|13 Hom;C>G 685;0|26 N N - 17 77077307 77077307 A G snp intronic ENGASE Engase ENSG00000167280 endo-beta-N-acetylglucosaminidase chr17:77071021-77084681 This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006517;protein deglycosylation;IEA|GO:0008152;metabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IBA|GO:0005829;cytosol;TAS GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0033925;mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENGASE https://www.ncbi.nlm.nih.gov/omim/?term=611898 http://www.informatics.jax.org/searchtool/Search.do?query=ENGASE&submit=Quick%0D%11986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENGASE rs2015651 0.521166 0 0 1 0 0 intronic intronic intronic ENGASE ENGASE ENSG00000167280 Na Na Na Na Na Na Het;A>G 149;3|5 Het;A>G 130;7|5 Hom;A>G 418;0|11 N N - 17 77081150 77081150 C T snp intronic ENGASE Engase ENSG00000167280 endo-beta-N-acetylglucosaminidase chr17:77071021-77084681 This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006517;protein deglycosylation;IEA|GO:0008152;metabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IBA|GO:0005829;cytosol;TAS GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0033925;mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENGASE https://www.ncbi.nlm.nih.gov/omim/?term=611898 http://www.informatics.jax.org/searchtool/Search.do?query=ENGASE&submit=Quick%0D%11986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENGASE rs4789982 0.358427 0 0 1 0 0 intronic intronic intronic ENGASE ENGASE ENSG00000167280 Na Na Na Na Na Na Het;C>T 79;2|3 Het;C>T 43;2|2 Hom;C>T 143;0|5 N N - 17 77081222 77081222 C T snp intronic ENGASE Engase ENSG00000167280 endo-beta-N-acetylglucosaminidase chr17:77071021-77084681 This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006517;protein deglycosylation;IEA|GO:0008152;metabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IBA|GO:0005829;cytosol;TAS GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0033925;mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENGASE https://www.ncbi.nlm.nih.gov/omim/?term=611898 http://www.informatics.jax.org/searchtool/Search.do?query=ENGASE&submit=Quick%0D%11986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENGASE rs4789984 0.380391 0 0 1 0 0 intronic intronic intronic ENGASE ENGASE ENSG00000167280 Na Na Na Na Na Na Het;C>T 212;3|8 Het;C>T 335;2|11 Hom;C>T 340;0|12 N N - 17 77087005 77087005 C CA indel intronic RBFOX3 Rbfox3 ENSG00000167281 RNA binding protein, fox-1 homolog 3 chr17:77085427-77613550 Cholesterol, HDL; Parkinson Disease; Triglycerides; Body Weight; Lipids Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RBFOX3 https://www.ncbi.nlm.nih.gov/omim/?term=616999 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX3&submit=Quick%0D%11987ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX3 rs112100897 0.402955 0.3831 0.3666 1 0 0 intronic intronic intronic RBFOX3 RBFOX3 ENSG00000167281 Na Na Na Na Na Na Het;+A 1149;52|38 Het;+A 729;45|25 Hom;+A 2915;0|77 N N - 17 77090473 77090473 A G snp UTR3 *18T>C RBFOX3 Rbfox3 ENSG00000167281 RNA binding protein, fox-1 homolog 3 chr17:77085427-77613550 Cholesterol, HDL; Parkinson Disease; Triglycerides; Body Weight; Lipids Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RBFOX3 https://www.ncbi.nlm.nih.gov/omim/?term=616999 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX3&submit=Quick%0D%11987ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX3 rs61042144 0.385583 0.3434 0.3945 1 0 0 intronic UTR3 UTR3 RBFOX3 RBFOX3(uc010wua.2:c.*18T>C) ENSG00000167281(ENST00000584778:c.*18T>C) Na Na Na Na Na Na Het;A>G 619;20|28 Het;A>G 557;32|28 Hom;A>G 1296;0|48 N N - 17 77093734 77093734 A G snp intronic RBFOX3 Rbfox3 ENSG00000167281 RNA binding protein, fox-1 homolog 3 chr17:77085427-77613550 Cholesterol, HDL; Parkinson Disease; Triglycerides; Body Weight; Lipids Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RBFOX3 https://www.ncbi.nlm.nih.gov/omim/?term=616999 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX3&submit=Quick%0D%11987ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX3 rs59021665 0.480032 0 0.3997 1 0 0 intronic intronic intronic RBFOX3 RBFOX3 ENSG00000167281 Na Na Na Na Na Na Het;A>G 178;7|8 Het;A>G 107;8|8 Hom;A>G 253;0|10 N N - 17 77093768 77093768 T C snp intronic RBFOX3 Rbfox3 ENSG00000167281 RNA binding protein, fox-1 homolog 3 chr17:77085427-77613550 Cholesterol, HDL; Parkinson Disease; Triglycerides; Body Weight; Lipids Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;IBA|GO:0008380;RNA splicing;IEA|GO:0043484;regulation of RNA splicing;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RBFOX3 https://www.ncbi.nlm.nih.gov/omim/?term=616999 http://www.informatics.jax.org/searchtool/Search.do?query=RBFOX3&submit=Quick%0D%11987ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFOX3 rs58352742 0.457867 0.3809 0.3902 1 0 0 intronic intronic intronic RBFOX3 RBFOX3 ENSG00000167281 Na Na Na Na Na Na Het;T>C 239;14|10 Het;T>C 354;11|17 Hom;T>C 605;0|24 N N - 17 77888937 77888937 C T snp downstream LINC01979 rs62076597 0.171126 0 0 1 0 0 downstream intergenic downstream LOC101928766 CBX4(dist=75724),BC044939(dist=4219) ENSG00000262585 Na Na Na Na Na Na Het;C>T 59;13|3 Ref Hom;C>T 242;0|6 N N - 17 77888965 77888965 C A snp downstream LINC01979 rs1663187 0.755591 0 0 1 0 0 downstream intergenic downstream LOC101928766 CBX4(dist=75752),BC044939(dist=4191) ENSG00000262585 Na Na Na Na Na Na Het;C>A 254;17|8 Het;C>A 170;4|5 Hom;C>A 402;0|9 N N - 17 77888988 77888988 T C snp downstream LINC01979 rs1663188 0.634185 0 0 1 0 0 downstream intergenic downstream LOC101928766 CBX4(dist=75775),BC044939(dist=4168) ENSG00000262585 Na Na Na Na Na Na Het;T>C 329;26|11 Het;T>C 386;6|12 Hom;T>C 961;0|29 N N - 17 77889055 77889055 T C snp ncRNA_exonic LOC101928766 rs1663189 0.755591 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928766 CBX4(dist=75842),BC044939(dist=4101) ENSG00000262585 Na Na Na Na Na Na Het;T>C 1117;58|48 Het;T>C 861;56|41 Hom;T>C 2704;0|96 N N - 17 77889139 77889139 C CT indel ncRNA_exonic LOC101928766 rs11381845 0.755791 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928766 CBX4(dist=75926),BC044939(dist=4017) ENSG00000262585 Na Na Na Na Na Na Het;+T 2674;87|79 Het;+T 2026;89|63 Hom;+T 6842;0|171 N N - 17 77889231 77889231 A G snp ncRNA_intronic LOC101928766 rs1663190 0.75619 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928766 CBX4(dist=76018),BC044939(dist=3925) ENSG00000262585 Na Na Na Na Na Na Het;A>G 1160;37|47 Het;A>G 956;46|41 Hom;A>G 2377;0|86 N N - 17 77889267 77889267 C G snp ncRNA_intronic LOC101928766 rs1696781 0.75619 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928766 CBX4(dist=76054),BC044939(dist=3889) ENSG00000262585 Na Na Na Na Na Na Het;C>G 825;25|29 Het;C>G 608;28|22 Hom;C>G 1348;0|48 N N - 17 77889326 77889326 G A snp ncRNA_intronic LOC101928766 rs1663191 0.633586 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928766 CBX4(dist=76113),BC044939(dist=3830) ENSG00000262585 Na Na Na Na Na Na Het;G>A 426;16|14 Het;G>A 157;12|7 Hom;G>A 361;0|11 N N - 17 77889524 77889524 T C snp ncRNA_intronic LOC101928766 rs1696782 0.75599 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928766 CBX4(dist=76311),BC044939(dist=3632) ENSG00000262585 Na Na Na Na Na Na Het;T>C 176;2|5 Het;T>C 116;8|4 Hom;T>C 277;0|7 N N - 17 77889525 77889525 C T snp ncRNA_intronic LOC101928766 rs1696783 0.75599 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928766 CBX4(dist=76312),BC044939(dist=3631) ENSG00000262585 Na Na Na Na Na Na Het;C>T 176;2|5 Het;C>T 116;8|4 Hom;C>T 277;0|6 N N - 17 77890766 77890766 G C snp ncRNA_exonic LOC101928766 rs1696785 0.447284 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928766 CBX4(dist=77553),BC044939(dist=2390) ENSG00000262585 Na Na Na Na Na Na Het;G>C 1696;119|75 Het;G>C 1283;88|59 Hom;G>C 4062;0|136 N N - 17 77890817 77890817 C A snp ncRNA_exonic LOC101928766 rs12150197 0.0559105 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928766 CBX4(dist=77604),BC044939(dist=2339) ENSG00000262585 Na Na Na Na Na Na Het;C>A 1860;129|89 Het;C>A 1312;108|63 Hom;C>A 4430;2|160 N N - 17 77891213 77891213 C T snp ncRNA_exonic LOC101928766 rs7220430 0.345048 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928766 CBX4(dist=78000),BC044939(dist=1943) ENSG00000262585 Na Na Na Na Na Na Het;C>T 1751;91|76 Het;C>T 1913;73|80 Hom;C>T 3210;0|120 N N - 17 77895311 77895311 C T snp ncRNA_exonic LOC101928766 rs9912236 0.266773 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic LOC101928766 BC044939 ENSG00000262585 Na Na Na Na Na Na Het;C>T 1276;68|60 Het;C>T 1567;77|75 Hom;C>T 3942;0|145 N N - 17 77895915 77895915 A G snp ncRNA_intronic BC044939 rs2034126 0.245008 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101928738,LOC101928766 BC044939 ENSG00000262188,ENSG00000262585 Na Na Na Na Na Na Het;A>G 944;27|39 Het;A>G 699;31|30 Hom;A>G 1207;0|44 N N - 17 77896660 77896660 C T snp ncRNA_exonic LOC101928738 rs62076640 0.258187 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928738 BC044939 ENSG00000262188 Na Na Na Na Na Na Het;C>T 4788;350|232 Het;C>T 4908;261|231 Hom;C>T 11420;2|426 N N - 17 77896764 77896764 T C snp ncRNA_exonic LOC101928738 rs62076641 0.282348 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928738 BC044939 ENSG00000262188 Na Na Na Na Na Na Het;T>C 4982;211|221 Het;T>C 3441;202|158 Hom;T>C 9583;0|342 N N - 17 77897172 77897172 A C snp ncRNA_exonic LOC101928738 rs112512790 0.269569 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928738 BC044939 ENSG00000262188 Na Na Na Na Na Na Het;A>C 257;6|8 Het;A>C 147;6|5 Hom;A>C 139;0|4 N N - 17 77897502 77897502 C T snp ncRNA_exonic LOC101928738 rs66490734 0.269768 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928738 BC044939 ENSG00000262188 Na Na Na Na Na Na Het;C>T 500;22|23 Het;C>T 696;14|27 Hom;C>T 833;0|30 N N - 17 77897770 77897770 C CAAAAATA indel ncRNA_exonic LOC101928738 rs141302886 0.271166 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928738 BC044939 ENSG00000262188 Na Na Na Na Na Na Het;+AAAAATA 86;11|2 Het;+AAAAATA 269;10|7 Hom;+AAAAATA 671;0|15 N N - 17 77900156 77900156 G A snp ncRNA_exonic LOC101928766 rs9904319 0.254193 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928766 BC044939(dist=2386),TBC1D16(dist=5986) ENSG00000262585 Na Na Na Na Na Na Het;G>A 1287;70|56 Het;G>A 1771;73|78 Hom;G>A 3725;1|138 N N - 17 78061979 78061979 A C snp intronic CCDC40 Ccdc40 ENSG00000141519 coiled-coil domain containing 40 chr17:78010435-78074412 This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Body Height Mice homozygous for an ENU-induced allele exhibit heterotaxia, hydrocephalus, short embryonic cilia, and postnatal lethality. GO:0001947;heart looping;IMP|GO:0003341;cilium movement;IMP|GO:0003351;epithelial cilium movement;IMP|GO:0003356;regulation of cilium beat frequency;IMP|GO:0030317;flagellated sperm motility;IMP|GO:0030324;lung development;IMP|GO:0035082;axoneme assembly;IEA|GO:0035469;determination of pancreatic left/right asymmetry;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0070286;axonemal dynein complex assembly;IMP|GO:0071907;determination of digestive tract left/right asymmetry;IMP|GO:0071910;determination of liver left/right asymmetry;IMP GO:0005737;cytoplasm;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0042995;cell projection;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CCDC40 https://www.uniprot.org/uniprot/Q4G0X9 https://hpo.jax.org/app/browse/search?q=CCDC40&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613799 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC40&submit=Quick%0D%8180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC40 rs12942049 0.309505 0 0 1 0 0 intronic intronic intronic CCDC40 CCDC40 ENSG00000141519 Na Na Na Na Na Na Het;A>C 149;13|9 Het;A>C 145;5|7 Hom;A>C 360;0|14 N N - 17 78157995 78157995 G A snp synonymous SNV G633A E211E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CARD14 Card14 ENSG00000141527 caspase recruitment domain family member 14 chr17:78143791-78183130 This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007250;activation of NF-kappaB-inducing kinase activity;NAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;NAS GO:0050700;CARD domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CARD14 https://www.uniprot.org/uniprot/Q9BXL6 https://hpo.jax.org/app/browse/search?q=CARD14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607211 http://www.informatics.jax.org/searchtool/Search.do?query=CARD14&submit=Quick%0D%8184ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD14 rs4889990 0.347045 0.3867 0.4547 1 0 0 exonic exonic exonic CARD14 CARD14 ENSG00000141527 synonymous SNV synonymous SNV unknown CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E, CARD14:uc002jxw.2:exon4:c.G633A:p.E211E,CARD14:uc002jxv.3:exon4:c.G633A:p.E211E,CARD14:uc031rer.1:exon4:c.G633A:p.E211E,CARD14:uc031res.1:exon4:c.G633A:p.E211E, UNKNOWN Het;G>A 913;55|44 Het;G>A 535;51|28 Hom;G>A 2298;0|86 N N - 17 78293189 78293189 A T snp nonsynonymous SNV A3101T K1034M polar,hydrophilic,charged(+) hydrophobic,neutral RNF213 Rnf213 ENSG00000173821 ring finger protein 213 chr17:78234665-78372586 This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] Moyamoya Disease Mice homozygous for a knock-out allele exhibit decreased body weight and circulating glucose level but normal glucose tolerance, insulin sensitivity, insulin plasma levels and leptin plasma levels. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0001525;angiogenesis;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006511;ubiquitin-dependent protein catabolic process;IMP|GO:0016567;protein ubiquitination;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051865;protein autoubiquitination;IDA|GO:2000051;negative regulation of non-canonical Wnt signaling pathway;IMP GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF213 https://hpo.jax.org/app/browse/search?q=RNF213&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613768 http://www.informatics.jax.org/searchtool/Search.do?query=RNF213&submit=Quick%0D%13430ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF213 rs55996424 0.329673 0.1895 0.2373 0.17 2 12 exonic exonic exonic RNF213 RNF213 ENSG00000173821 nonsynonymous SNV nonsynonymous SNV unknown RNF213:NM_020954:exon17:c.A3101T:p.K1034M, RNF213:uc002jyf.4:exon17:c.A3101T:p.K1034M, UNKNOWN Het;A>T 1445;83|62 Het;A>T 1276;77|57 Hom;A>T 3955;0|143 N N - 17 7836818 7836818 A G snp intronic CNTROB Cntrob ENSG00000170037 centrobin, centriole duplication and spindle assembly protein chr17:7835419-7853236 This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] breast cancer GO:0007049;cell cycle;IEA|GO:0007099;centriole replication;IMP|GO:0051299;centrosome separation;IMP|GO:0051301;cell division;IEA|GO:1902410;mitotic cytokinetic process;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IMP|GO:0005814;centriole;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNTROB https://www.ncbi.nlm.nih.gov/omim/?term=611425 http://www.informatics.jax.org/searchtool/Search.do?query=CNTROB&submit=Quick%0D%12620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTROB rs4239114 0.667133 0 0 1 0 0 intronic intronic intronic CNTROB CNTROB ENSG00000170037 Na Na Na Na Na Na Het;A>G 154;5|7 Ref Hom;A>G 56;0|4 N N - 17 78795868 78795868 A G snp intronic RPTOR Rptor ENSG00000141564 regulatory associated protein of MTOR complex 1 chr17:78518619-78940171 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] null; Blood Pressure Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Regulation of PTEN gene transcription GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPTOR https://www.uniprot.org/uniprot/Q8N122 https://www.ncbi.nlm.nih.gov/omim/?term=607130 http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR rs9911574 0.345048 0 0 1 0 0 intronic intronic intronic RPTOR RPTOR ENSG00000141564 Na Na Na Na Na Na Het;A>G 306;17|12 Het;A>G 111;8|5 Hom;A>G 315;1|11 N N - 17 78865824 78865824 A G snp intronic RPTOR Rptor ENSG00000141564 regulatory associated protein of MTOR complex 1 chr17:78518619-78940171 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] null; Blood Pressure Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Regulation of PTEN gene transcription GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPTOR https://www.uniprot.org/uniprot/Q8N122 https://www.ncbi.nlm.nih.gov/omim/?term=607130 http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR rs2289766 0.28135 0 0 1 0 0 intronic intronic intronic RPTOR RPTOR ENSG00000141564 Na Na Na Na Na Na Het;A>G 218;9|7 Het;A>G 122;2|4 Hom;A>G 230;0|7 N N - 17 78866410 78866410 A G snp intronic RPTOR Rptor ENSG00000141564 regulatory associated protein of MTOR complex 1 chr17:78518619-78940171 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] null; Blood Pressure Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Regulation of PTEN gene transcription GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPTOR https://www.uniprot.org/uniprot/Q8N122 https://www.ncbi.nlm.nih.gov/omim/?term=607130 http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR rs8069822 0.339257 0 0 1 0 0 intronic intronic intronic RPTOR RPTOR ENSG00000141564 Na Na Na Na Na Na Het;A>G 209;12|8 Het;A>G 92;4|4 Hom;A>G 445;0|13 N N - 17 78867733 78867733 A G snp intronic RPTOR Rptor ENSG00000141564 regulatory associated protein of MTOR complex 1 chr17:78518619-78940171 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] null; Blood Pressure Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Regulation of PTEN gene transcription GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPTOR https://www.uniprot.org/uniprot/Q8N122 https://www.ncbi.nlm.nih.gov/omim/?term=607130 http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR rs3751943 0.427915 0 0 1 0 0 intronic intronic intronic RPTOR RPTOR ENSG00000141564 Na Na Na Na Na Na Het;A>G 1938;89|80 Het;A>G 1371;96|69 Hom;A>G 4503;0|166 N N - 17 78867822 78867822 C T snp intronic RPTOR Rptor ENSG00000141564 regulatory associated protein of MTOR complex 1 chr17:78518619-78940171 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] null; Blood Pressure Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Regulation of PTEN gene transcription GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPTOR https://www.uniprot.org/uniprot/Q8N122 https://www.ncbi.nlm.nih.gov/omim/?term=607130 http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR rs17848656 0.314497 0 0 1 0 0 intronic intronic intronic RPTOR RPTOR ENSG00000141564 Na Na Na Na Na Na Het;C>T 666;22|23 Het;C>T 245;21|10 Hom;C>T 1126;0|35 N N - 17 78867885 78867885 T C snp intronic RPTOR Rptor ENSG00000141564 regulatory associated protein of MTOR complex 1 chr17:78518619-78940171 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] null; Blood Pressure Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. Regulation of PTEN gene transcription GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0009267;cellular response to starvation;IBA|GO:0010506;regulation of autophagy;IBA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0016049;cell growth;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031669;cellular response to nutrient levels;IMP|GO:0031929;TOR signaling;IDA|GO:0032008;positive regulation of TOR signaling;IDA|GO:0032147;activation of protein kinase activity;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0038202;TORC1 signaling;IMP|GO:0042325;regulation of phosphorylation;IEA|GO:0045945;positive regulation of transcription from RNA polymerase III promoter;IMP|GO:0071230;cellular response to amino acid stimulus;IMP|GO:0071233;cellular response to leucine;IDA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IMP|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0010494;cytoplasmic stress granule;IDA|GO:0030425;dendrite;IEA|GO:0031931;TORC1 complex;IDA|GO:0043025;neuronal cell body;IEA GO:0001030;RNA polymerase III type 1 promoter DNA binding;IDA|GO:0001031;RNA polymerase III type 2 promoter DNA binding;IDA|GO:0001032;RNA polymerase III type 3 promoter DNA binding;IDA|GO:0001156;TFIIIC-class transcription factor binding;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0032403;protein complex binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPTOR https://www.uniprot.org/uniprot/Q8N122 https://www.ncbi.nlm.nih.gov/omim/?term=607130 http://www.informatics.jax.org/searchtool/Search.do?query=RPTOR&submit=Quick%0D%8193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTOR rs55929430 0.317891 0 0 1 0 0 intronic intronic intronic RPTOR RPTOR ENSG00000141564 Na Na Na Na Na Na Het;T>C 153;8|6 Het;T>C 78;4|3 Hom;T>C 190;0|6 N N - 17 78969386 78969386 G C snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs4969333 0.604034 0 0 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;G>C 252;9|9 Ref Hom;G>C 431;0|13 N N - 17 78969590 78969590 T C snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs66738175 0.601438 0.6170 0.5888 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;T>C 903;29|36 Het;T>C 468;24|25 Hom;T>C 1948;0|73 N N - 17 78969784 78969784 A G snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs66526914 0.660743 0 0 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;A>G 94;7|4 Ref Hom;A>G 202;0|8 N N - 17 78970779 78970779 G C snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs12951796 0.651158 0.6787 0.6050 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;G>C 518;35|24 Het;G>C 331;20|18 Hom;G>C 1408;0|51 N N - 17 78970909 78970909 A G snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs4969334 0.615216 0.6306 0.5931 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;A>G 751;15|32 Het;A>G 489;20|22 Hom;A>G 1449;2|53 N N - 17 78971182 78971182 C T snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs9989472 0.614417 0.6305 0.5210 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;C>T 983;13|25 Het;C>T 365;9|10 Hom;C>T 940;0|22 N N - 17 78972864 78972864 T C snp intronic CHMP6 Chmp6 ENSG00000176108 charged multivesicular body protein 6 chr17:78965398-78983317 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;IDA|GO:1904902;ESCRT III complex assembly;NAS GO:0000815;ESCRT III complex;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP6 https://www.ncbi.nlm.nih.gov/omim/?term=610901 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP6&submit=Quick%0D%13802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP6 rs11870458 0.659545 0.6796 0.6058 1 0 0 intronic intronic intronic CHMP6 CHMP6 ENSG00000176108 Na Na Na Na Na Na Het;T>C 736;44|32 Het;T>C 764;28|32 Hom;T>C 1729;0|65 N N - 17 79093142 79093142 C CCGCGTGCCCTACCTCT indel intronic AATK Aatk ENSG00000181409 apoptosis associated tyrosine kinase chr17:79091095-79139877 The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] E-Selectin; Heart Failure Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites. GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AATK https://www.ncbi.nlm.nih.gov/omim/?term=605276 http://www.informatics.jax.org/searchtool/Search.do?query=AATK&submit=Quick%0D%14617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AATK rs11275051 0 0.8002 0.7188 1 0 0 intronic intronic intronic AATK AATK ENSG00000181409 Na Na Na Na Na Na Het;+CGCGTGCCCTACCTCT 576;11|11 Het;+CGCGTGCCCTACCTCT 371;18|7 Hom;+CGCGTGCCCTACCTCT 800;0|15 N N - 17 79093427 79093427 C T snp intronic AATK Aatk ENSG00000181409 apoptosis associated tyrosine kinase chr17:79091095-79139877 The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] E-Selectin; Heart Failure Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites. GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AATK https://www.ncbi.nlm.nih.gov/omim/?term=605276 http://www.informatics.jax.org/searchtool/Search.do?query=AATK&submit=Quick%0D%14617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AATK rs62073018 0.48762 0.4219 0.6043 1 0 0 intronic intronic intronic AATK AATK ENSG00000181409 Na Na Na Na Na Na Het;C>T 1436;80|64 Het;C>T 966;45|45 Hom;C>T 2788;0|99 N N - 17 79095144 79095144 G A snp synonymous SNV C2283T A761A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AATK Aatk ENSG00000181409 apoptosis associated tyrosine kinase chr17:79091095-79139877 The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] E-Selectin; Heart Failure Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites. GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AATK https://www.ncbi.nlm.nih.gov/omim/?term=605276 http://www.informatics.jax.org/searchtool/Search.do?query=AATK&submit=Quick%0D%14617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AATK rs8073904 0.805312 0.8508 0.8247 1 0 0 exonic exonic exonic AATK AATK ENSG00000181409 synonymous SNV synonymous SNV unknown AATK:NM_004920:exon10:c.C2283T:p.A761A,AATK:NM_001080395:exon11:c.C2592T:p.A864A, AATK:uc010dia.3:exon11:c.C2592T:p.A864A,AATK:uc021ueu.1:exon10:c.C2283T:p.A761A, UNKNOWN Het;G>A 2515;110|102 Het;G>A 2240;97|100 Hom;G>A 4783;1|163 N N - 17 79166103 79166103 T C snp intronic CEP131 Cep131 rs870187 0.415735 0.5452 0.4129 1 0 0 intronic intronic intronic CEP131 AZI1 ENSG00000141577 Na Na Na Na Na Na Het;T>C 183;18|10 Het;T>C 447;13|21 Hom;T>C 818;0|31 N N - 17 79168268 79168268 A C snp intronic CEP131 Cep131 rs2279913 0.409744 0 0 1 0 0 intronic intronic intronic CEP131 AZI1 ENSG00000141577 Na Na Na Na Na Na Het;A>C 73;6|4 Ref Hom;A>C 162;0|7 N N - 17 79194005 79194005 T C snp intronic CEP131 Cep131 rs12939525 0.339856 0 0 1 0 0 intronic intronic intronic CEP131 AZI1 ENSG00000141577 Na Na Na Na Na Na Het;T>C 127;6|5 Het;T>C 99;3|4 Hom;T>C 205;0|7 N N - 17 79204127 79204134 GTGAGTGC G indel ncRNA_exonic AL832593 rs72268262 0.340056 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic ENTHD2 AL832593 ENSG00000260005 Na Na Na Na Na Na Het;-TGAGTGC 940;23|26 Het;-TGAGTGC 780;15|21 Hom;-TGAGTGC 1089;0|25 N N - 17 79204661 79204661 C G snp ncRNA_exonic AL832593 rs12937612 0.358626 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic ENTHD2 AL832593 ENSG00000260005 Na Na Na Na Na Na Het;C>G 269;6|10 Het;C>G 68;5|3 Hom;C>G 287;0|8 N N - 17 79244802 79244802 T C snp synonymous SNV A1047G T349T polar,hydrophilic,neutral polar,hydrophilic,neutral SLC38A10 Slc38a10 ENSG00000157637 solute carrier family 38 member 10 chr17:79218800-79269347 Longevity Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA|GO:0060348;bone development;IEA GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A10 https://www.ncbi.nlm.nih.gov/omim/?term=616525 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A10&submit=Quick%0D%10117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A10 rs2292184 0.429113 0.5334 0.3999 1 0 0 exonic exonic exonic SLC38A10 SLC38A10 ENSG00000157637 synonymous SNV synonymous SNV unknown SLC38A10:NM_138570:exon10:c.A1047G:p.T349T,SLC38A10:NM_001037984:exon10:c.A1047G:p.T349T, SLC38A10:uc002jzy.1:exon8:c.A801G:p.T267T,SLC38A10:uc002jzz.1:exon10:c.A1047G:p.T349T,SLC38A10:uc002kab.3:exon10:c.A1047G:p.T349T, UNKNOWN Het;T>C 644;34|29 Het;T>C 879;30|39 Hom;T>C 1350;0|52 N N - 17 79246270 79246270 G GC indel intronic SLC38A10 Slc38a10 ENSG00000157637 solute carrier family 38 member 10 chr17:79218800-79269347 Longevity Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA|GO:0060348;bone development;IEA GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A10 https://www.ncbi.nlm.nih.gov/omim/?term=616525 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A10&submit=Quick%0D%10117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A10 rs3841622 0.440695 0.5411 0.4080 1 0 0 intronic intronic intronic SLC38A10 SLC38A10 ENSG00000157637 Na Na Na Na Na Na Het;+C 1471;76|60 Het;+C 1493;48|56 Hom;+C 2977;0|93 N N - 17 79249997 79249997 C T snp intronic SLC38A10 Slc38a10 ENSG00000157637 solute carrier family 38 member 10 chr17:79218800-79269347 Longevity Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA|GO:0060348;bone development;IEA GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A10 https://www.ncbi.nlm.nih.gov/omim/?term=616525 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A10&submit=Quick%0D%10117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A10 rs9898133 0.427915 0.5331 0.4650 1 0 0 intronic intronic intronic SLC38A10 SLC38A10 ENSG00000157637 Na Na Na Na Na Na Het;C>T 281;28|14 Het;C>T 591;18|24 Hom;C>T 846;0|26 N N - 17 79255912 79255912 C T snp intronic SLC38A10 Slc38a10 ENSG00000157637 solute carrier family 38 member 10 chr17:79218800-79269347 Longevity Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA|GO:0060348;bone development;IEA GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A10 https://www.ncbi.nlm.nih.gov/omim/?term=616525 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A10&submit=Quick%0D%10117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A10 rs7213540 0.52476 0 0 1 0 0 intronic intronic intronic SLC38A10 SLC38A10 ENSG00000157637 Na Na Na Na Na Na Het;C>T 1010;33|42 Het;C>T 859;28|39 Hom;C>T 1119;1|41 N N - 17 79258787 79258787 A G snp UTR5 -121T>C SLC38A10 Slc38a10 ENSG00000157637 solute carrier family 38 member 10 chr17:79218800-79269347 Longevity Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA|GO:0060348;bone development;IEA GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A10 https://www.ncbi.nlm.nih.gov/omim/?term=616525 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A10&submit=Quick%0D%10117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A10 rs8077394 0.539936 0 0 1 0 0 intronic UTR5 intronic SLC38A10 SLC38A10(uc002jzy.1:c.-121T>C) ENSG00000157637 Na Na Na Na Na Na Het;A>G 95;9|4 Ref Hom;A>G 406;0|12 N N - 17 79268562 79268562 A G snp intronic SLC38A10 Slc38a10 ENSG00000157637 solute carrier family 38 member 10 chr17:79218800-79269347 Longevity Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA|GO:0060348;bone development;IEA GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A10 https://www.ncbi.nlm.nih.gov/omim/?term=616525 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A10&submit=Quick%0D%10117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A10 rs8064597 0.567093 0 0 1 0 0 intronic intronic intronic SLC38A10 SLC38A10 ENSG00000157637 Na Na Na Na Na Na Het;A>G 696;28|31 Het;A>G 253;23|14 Hom;A>G 1020;0|37 N N - 17 79277179 79277179 T C snp ncRNA_exonic LINC00482 rs8074435 0.426917 0 0 1 0 0 ncRNA_exonic UTR3 downstream LINC00482 LINC00482(uc002kac.1:c.*1191A>G) ENSG00000185168 Na Na Na Na Na Na Het;T>C 2779;127|119 Het;T>C 2273;101|101 Hom;T>C 5585;2|196 N N - 17 79277793 79277793 T C snp ncRNA_exonic LINC00482 rs1546407 0.432109 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00482 LINC00482(uc002kac.1:c.*577A>G) ENSG00000185168 Na Na Na Na Na Na Het;T>C 2011;108|91 Het;T>C 1915;98|83 Hom;T>C 4585;0|159 N N - 17 79277817 79277817 A G snp ncRNA_exonic LINC00482 rs1546406 0.472244 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00482 LINC00482(uc002kac.1:c.*553T>C) ENSG00000185168 Na Na Na Na Na Na Het;A>G 1814;95|80 Het;A>G 1611;90|71 Hom;A>G 3806;0|135 N N - 17 79278357 79278357 C G snp ncRNA_exonic LINC00482 rs11871509 0.330671 0.3117 0.3805 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00482 LINC00482(uc002kac.1:c.*13G>C) ENSG00000185168 Na Na Na Na Na Na Het;C>G 2378;93|98 Het;C>G 1471;64|64 Hom;C>G 3431;0|121 N N - 17 79279017 79279017 C G snp nonsynonymous SNV G148C V50L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LINC00482 rs2056439 0.434305 0 0.4063 1 0 0 ncRNA_exonic exonic ncRNA_exonic LINC00482 LINC00482 ENSG00000185168 Na nonsynonymous SNV Na Na LINC00482:uc002kac.1:exon4:c.G148C:p.V50L, Na Het;C>G 1825;44|48 Het;C>G 689;44|28 Hom;C>G 2942;0|83 N N - 17 79279711 79279711 G A snp ncRNA_exonic LINC00482 rs3760195 0.364617 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic LINC00482 LINC00482 ENSG00000185168 Na Na Na Na Na Na Het;G>A 331;14|14 Het;G>A 182;3|7 Hom;G>A 331;0|12 N N - 17 79288124 79288124 C T snp intronic TMEM105 ENSG00000185332 transmembrane protein 105 chr17:79285074-79304474 Stroke GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM105 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM105&submit=Quick%0D%15396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM105 rs9891595 0.311302 0 0 1 0 0 intronic intronic intronic TMEM105 TMEM105 ENSG00000185332 Na Na Na Na Na Na Het;C>T 516;16|21 Het;C>T 263;11|11 Hom;C>T 443;0|12 N N - 17 79427822 79427822 C T snp intronic BAHCC1 Bahcc1 rs3744148 0.486621 0 0 1 0 0 intronic intronic intronic BAHCC1 BAHCC1 ENSG00000171282 Na Na Na Na Na Na Het;C>T 472;4|17 Het;C>T 179;8|7 Hom;C>T 510;0|17 N N - 17 79429711 79429711 C T snp intronic BAHCC1 Bahcc1 rs3736072 0.503994 0 0 1 0 0 intronic intronic intronic BAHCC1 BAHCC1 ENSG00000171282 Na Na Na Na Na Na Het;C>T 487;25|20 Het;C>T 299;23|15 Hom;C>T 871;0|32 N N - 17 80146089 80146089 G A snp intronic CCDC57 Ccdc57 ENSG00000176155 coiled-coil domain containing 57 chr17:80059336-80170706 Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC57 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC57&submit=Quick%0D%13809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC57 rs4789729 0.81869 0.7557 0.7761 1 0 0 intronic intronic intronic CCDC57 CCDC57 ENSG00000176155 Na Na Na Na Na Na Het;G>A 655;38|30 Het;G>A 949;37|42 Hom;G>A 2202;0|84 N N - 17 80159566 80159566 T C snp synonymous SNV A255G E85E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CCDC57 Ccdc57 ENSG00000176155 coiled-coil domain containing 57 chr17:80059336-80170706 Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC57 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC57&submit=Quick%0D%13809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC57 rs8072670 0.823482 0.7496 0.7464 1 0 0 exonic exonic exonic CCDC57 CCDC57 ENSG00000176155 synonymous SNV synonymous SNV unknown CCDC57:NM_198082:exon2:c.A255G:p.E85E, CCDC57:uc002kdx.1:exon2:c.A255G:p.E85E,CCDC57:uc002kdz.1:exon3:c.A255G:p.E85E, UNKNOWN Het;T>C 1624;83|71 Het;T>C 1724;71|70 Hom;T>C 3703;0|126 N N - 17 8048010 8048010 C A snp nonsynonymous SNV G2472T W824C aromatic,hydrophobic,neutral polar,hydrophobic,neutral PER1 Per1 ENSG00000179094 period circadian clock 1 chr17:8043790-8059824 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014] autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired. Circadian Clock GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PER1 https://www.ncbi.nlm.nih.gov/omim/?term=602260 http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1 rs2289591 0.0936502 0 0.1984 0.18 2 11 intronic exonic exonic PER1 PER1 ENSG00000179094 Na nonsynonymous SNV unknown Na PER1:uc010vur.1:exon18:c.G2472T:p.W824C, UNKNOWN Het;C>A 188;12|7 Het;C>A 283;4|10 Hom;C>A 272;0|9 N N - 17 80790442 80790442 T G snp UTR5 -112A>C ZNF750 Zfp750 ENSG00000141579 zinc finger protein 750 chr17:80787311-80798454 This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008] Seborrhea-like dermatitis with psoriasiform elements Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008544;epidermis development;IMP|GO:0030154;cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ZNF750 https://www.uniprot.org/uniprot/Q32MQ0 https://hpo.jax.org/app/browse/search?q=ZNF750&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610226 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF750&submit=Quick%0D%8200ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF750 rs3744165 0.790136 0 0 1 0 0 UTR5 UTR5 UTR5 ZNF750(NM_024702:c.-112A>C) ZNF750(uc002kga.3:c.-112A>C) ENSG00000141579(ENST00000269394:c.-112A>C) Na Na Na Na Na Na Het;T>G 147;8|5 Ref Hom;T>G 312;0|8 N N - 17 81006286 81006286 G A snp intronic B3GNTL1 B3gntl1 ENSG00000277033 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 chr17:80900031-81009686 Hemoglobin A, Glycosylated O-linked glycosylation of mucins GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1 https://www.ncbi.nlm.nih.gov/omim/?term=615337 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1 rs10852789 0.285942 0 0 1 0 0 intronic intronic intronic B3GNTL1 B3GNTL1 ENSG00000175711 Na Na Na Na Na Na Het;G>A 105;2|4 Het;G>A 161;1|7 Hom;G>A 80;0|4 N N - 17 81006387 81006387 G A snp synonymous SNV C237T H79H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) B3GNTL1 B3gntl1 ENSG00000277033 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 chr17:80900031-81009686 Hemoglobin A, Glycosylated O-linked glycosylation of mucins GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1 https://www.ncbi.nlm.nih.gov/omim/?term=615337 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1 rs1143006 0.285543 0.2655 0.2883 1 0 0 exonic exonic exonic B3GNTL1 B3GNTL1 ENSG00000175711 synonymous SNV synonymous SNV unknown B3GNTL1:NM_001009905:exon3:c.C237T:p.H79H, B3GNTL1:uc002kgg.1:exon3:c.C237T:p.H79H, UNKNOWN Het;G>A 734;13|28 Het;G>A 327;22|16 Hom;G>A 875;0|32 N N - 17 9083390 9083390 G C snp intronic NTN1 Ntn1 ENSG00000065320 netrin 1 chr17:8924859-9147317 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] Lipids; Sodium; Diabetic Nephropathies Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death. Role of second messengers in netrin-1 signaling GO:0001764;neuron migration;IEA|GO:0006915;apoptotic process;IEA|GO:0006930;substrate-dependent cell migration, cell extension;ISS|GO:0007265;Ras protein signal transduction;ISS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0030879;mammary gland development;IEA|GO:0032488;Cdc42 protein signal transduction;ISS|GO:0033564;anterior/posterior axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:2000147;positive regulation of cell motility;ISS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NTN1 https://www.uniprot.org/uniprot/O95631 https://hpo.jax.org/app/browse/search?q=NTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601614 http://www.informatics.jax.org/searchtool/Search.do?query=NTN1&submit=Quick%0D%1167ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTN1 rs8081736 0.095647 0 0 1 0 0 intronic intronic intronic NTN1 NTN1 ENSG00000065320 Na Na Na Na Na Na Het;G>C 190;6|6 Het;G>C 34;7|3 Hom;G>C 251;0|8 N N - 17 909451 909451 A T snp intronic ABR Abr ENSG00000278741 active BCR-related chr17:906758-1132315 This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] Tobacco Use Disorder Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. G alpha (12/13) signalling events GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABR https://www.ncbi.nlm.nih.gov/omim/?term=600365 http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR rs2586306 0.41254 0.5142 0.4789 1 0 0 intronic intronic intronic ABR ABR ENSG00000159842 Na Na Na Na Na Na Het;A>T 74;15|4 Het;A>T 295;14|15 Hom;A>T 990;0|35 N N - 17 910401 910401 G A snp intronic ABR Abr ENSG00000278741 active BCR-related chr17:906758-1132315 This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] Tobacco Use Disorder Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. G alpha (12/13) signalling events GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABR https://www.ncbi.nlm.nih.gov/omim/?term=600365 http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR rs2586305 0.337859 0.4335 0.0014 1 0 0 intronic intronic intronic ABR ABR ENSG00000159842 Na Na Na Na Na Na Het;G>A 69;9|5 Het;G>A 190;9|10 Hom;G>A 852;0|36 N N - 17 912768 912768 G A snp intronic ABR Abr ENSG00000278741 active BCR-related chr17:906758-1132315 This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] Tobacco Use Disorder Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. G alpha (12/13) signalling events GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABR https://www.ncbi.nlm.nih.gov/omim/?term=600365 http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR rs333653 0.375799 0 0 1 0 0 intronic intronic intronic ABR ABR ENSG00000159842 Na Na Na Na Na Na Het;G>A 65;7|4 Ref Hom;G>A 292;0|9 N N - 17 9130197 9130197 G A snp intronic NTN1 Ntn1 ENSG00000065320 netrin 1 chr17:8924859-9147317 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] Lipids; Sodium; Diabetic Nephropathies Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death. Role of second messengers in netrin-1 signaling GO:0001764;neuron migration;IEA|GO:0006915;apoptotic process;IEA|GO:0006930;substrate-dependent cell migration, cell extension;ISS|GO:0007265;Ras protein signal transduction;ISS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0030879;mammary gland development;IEA|GO:0032488;Cdc42 protein signal transduction;ISS|GO:0033564;anterior/posterior axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:2000147;positive regulation of cell motility;ISS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NTN1 https://www.uniprot.org/uniprot/O95631 https://hpo.jax.org/app/browse/search?q=NTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601614 http://www.informatics.jax.org/searchtool/Search.do?query=NTN1&submit=Quick%0D%1167ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTN1 rs3785989 0.671725 0 0 1 0 0 intronic intronic intronic NTN1 NTN1 ENSG00000065320 Na Na Na Na Na Na Het;G>A 83;2|4 Ref Hom;G>A 99;0|4 N N - 17 953456 953456 C T snp intronic ABR Abr ENSG00000278741 active BCR-related chr17:906758-1132315 This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] Tobacco Use Disorder Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. G alpha (12/13) signalling events GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABR https://www.ncbi.nlm.nih.gov/omim/?term=600365 http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR rs2257540 0.498003 0.5415 0.5757 1 0 0 intronic intronic intronic ABR ABR ENSG00000159842 Na Na Na Na Na Na Het;C>T 1382;84|65 Het;C>T 975;54|45 Hom;C>T 2634;0|99 N N - 17 953737 953737 T C snp intronic ABR Abr ENSG00000278741 active BCR-related chr17:906758-1132315 This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] Tobacco Use Disorder Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. G alpha (12/13) signalling events GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IBA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABR https://www.ncbi.nlm.nih.gov/omim/?term=600365 http://www.informatics.jax.org/searchtool/Search.do?query=ABR&submit=Quick%0D%22129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABR rs2257222 0.342252 0.3585 0.3409 1 0 0 intronic intronic intronic ABR ABR ENSG00000159842 Na Na Na Na Na Na Het;T>C 238;9|10 Het;T>C 226;12|10 Hom;T>C 914;0|30 N N - 18 12254562 12254562 C CCCGCGCACACACCCAT indel unknown CIDEA Cidea ENSG00000176194 cell death-inducing DFFA-like effector a chr18:12254318-12277594 This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010] obesity; Metabolic Syndrome X Nullizygous mice show higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment. They are lean and resistant to diet-induced obesity. Aging homozygotes exhibit dry eyes and hair, reduced sebaceous lipid secretion, hair loss, and poor water repulsion. Lipid particle organization GO:0001659;temperature homeostasis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0008219;cell death;ISS|GO:0010890;positive regulation of sequestering of triglyceride;ISS|GO:0019915;lipid storage;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0034389;lipid particle organization;TAS|GO:0035634;response to stilbenoid;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0050710;negative regulation of cytokine secretion;IMP|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:1900118;negative regulation of execution phase of apoptosis;ISS|GO:1902510;regulation of apoptotic DNA fragmentation;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS|GO:0005739;mitochondrion;IEA|GO:0005740;mitochondrial envelope;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CIDEA https://www.ncbi.nlm.nih.gov/omim/?term=604440 http://www.informatics.jax.org/searchtool/Search.do?query=CIDEA&submit=Quick%0D%13816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CIDEA rs71172063 0.384585 0 0.3808 1 0 0 intronic UTR5 exonic CIDEA CIDEA(uc002kqu.4:c.-254C>CCCGCGCACACACCCAT) ENSG00000176194 Na Na unknown Na Na UNKNOWN Het;+CCGCGCACACACCCAT 1811;68|46 Het;+CCGCGCACACACCCAT 1981;53|51 Hom;+CCGCGCACACACCCAT 4519;0|105 N N - 18 12433188 12433188 C G snp downstream SLMO1 rs45476491 0.410743 0 0 1 0 0 downstream downstream ncRNA_intronic SLMO1 SLMO1 ENSG00000267108 Na Na Na Na Na Na Het;C>G 32;5|2 Ref Hom;C>G 103;0|4 N N - 18 1247255 1247255 G A snp intergenic ADCYAP1 Adcyap1 ENSG00000141433 adenylate cyclase activating polypeptide 1 chr18:904944-912173 This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] Forced Vital Capacity; schizophrenia; bipolar disorder; Sudden Infant Death; bipolar disorder; Bipolar Disorder; Bulimia; several psychiatric disorders; multiple sclerosis; Cholesterol; Alcoholism; Carotid Artery Diseases; Schizophrenia; Myocardial Infarction; metabolic syndrome; major depressive disorder; bronchodilator response; diabetes, type 2 Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. Glucagon-type ligand receptors GO:0001541;ovarian follicle development;IEA|GO:0001662;behavioral fear response;IEA|GO:0001821;histamine secretion;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002865;negative regulation of acute inflammatory response to antigenic stimulus;IEA|GO:0002878;negative regulation of acute inflammatory response to non-antigenic stimulus;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;ISS|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;IEA|GO:0007565;female pregnancy;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010579;positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway;IDA|GO:0010628;positive regulation of gene expression;IEA|GO:0010656;negative regulation of muscle cell apoptotic process;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019933;cAMP-mediated signaling;IMP|GO:0021983;pituitary gland development;IEA|GO:0030073;insulin secretion;ISS|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0031175;neuron projection development;IDA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032880;regulation of protein localization;IDA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0042594;response to starvation;IEA|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0045471;response to ethanol;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045786;negative regulation of cell cycle;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046034;ATP metabolic process;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060124;positive regulation of growth hormone secretion;ISS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070445;regulation of oligodendrocyte progenitor proliferation;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0071651;positive regulation of chemokine (C-C motif) ligand 5 production;IDA|GO:0090274;positive regulation of somatostatin secretion;IEA|GO:0097755;positive regulation of blood vessel diameter;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0043195;terminal bouton;IEA GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005102;receptor binding;IPI|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IDA|GO:0005515;protein binding;IPI|GO:0016521;pituitary adenylate cyclase activating polypeptide activity;IDA|GO:0031858;pituitary adenylate cyclase-activating polypeptide receptor binding;IEA|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ADCYAP1 https://www.uniprot.org/uniprot/P18509 https://www.ncbi.nlm.nih.gov/omim/?term=102980 http://www.informatics.jax.org/searchtool/Search.do?query=ADCYAP1&submit=Quick%0D%8160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCYAP1 rs12956338 0.504193 0 0 1 0 0 intergenic intergenic intergenic ADCYAP1(dist=335082),LINC00470(dist=21057) ADCYAP1(dist=335082),LINC00470(dist=7135) ENSG00000266251(dist=70242),ENSG00000132204(dist=7129) Na Na Na Na Na Na Het;G>A 98;3|4 Het;G>A 50;3|4 Hom;G>A 124;0|5 N N - 18 12546608 12546609 GA G indel intronic SPIRE1 Spire1 ENSG00000134278 spire type actin nucleation factor 1 chr18:12446511-12658133 Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE1 https://www.uniprot.org/uniprot/Q08AE8 https://www.ncbi.nlm.nih.gov/omim/?term=609216 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE1&submit=Quick%0D%6948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE1 rs35057526 0.40655 0 0 1 0 0 intronic intronic intronic SPIRE1 SPIRE1 ENSG00000134278 Na Na Na Na Na Na Het;-A 61;7|5 Het;-A 80;9|6 Hom;-A 200;0|9 N N - 18 12590981 12590981 A G snp intronic SPIRE1 Spire1 ENSG00000134278 spire type actin nucleation factor 1 chr18:12446511-12658133 Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE1 https://www.uniprot.org/uniprot/Q08AE8 https://www.ncbi.nlm.nih.gov/omim/?term=609216 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE1&submit=Quick%0D%6948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE1 rs34814556 0.371605 0 0 1 0 0 intronic intronic intronic SPIRE1 SPIRE1 ENSG00000134278 Na Na Na Na Na Na Het;A>G 57;9|5 Ref Hom;A>G 170;0|8 N N - 18 12662148 12662148 G A snp UTR3 *4C>T CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs1129214 0.297524 0 0.2980 1 0 0 intronic UTR3 UTR3 PSMG2 CEP76(uc002krh.4:c.*4C>T) ENSG00000101624(ENST00000590143:c.*1748C>T) Na Na Na Na Na Na Het;G>A 936;35|43 Het;G>A 467;33|24 Hom;G>A 1715;0|61 N N - 18 12662190 12662190 G GA indel intronic PSMG2 Psmg2 ENSG00000128789 proteasome assembly chaperone 2 chr18:12658737-12725739 Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1 GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMG2 https://www.uniprot.org/uniprot/Q969U7 https://www.ncbi.nlm.nih.gov/omim/?term=609702 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2 rs398120189 0.243211 0 0.4351 1 0 0 intronic intronic intronic PSMG2 CEP76,PSMG2 ENSG00000101624,ENSG00000128789 Na Na Na Na Na Na Het;+A 193;11|12 Het;+A 167;8|9 Hom;+A 210;1|11 N N - 18 12678486 12678486 A G snp intronic CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs12966424 0.30631 0.3977 0.4005 1 0 0 intronic intronic intronic CEP76,PSMG2 CEP76,PSMG2 ENSG00000101624,ENSG00000128789 Na Na Na Na Na Na Het;A>G 429;20|17 Het;A>G 325;11|13 Hom;A>G 940;0|28 N N - 18 12691610 12691610 A G snp intronic CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs12960997 0.305911 0 0 1 0 0 intronic intronic intronic CEP76,PSMG2 CEP76,PSMG2 ENSG00000101624,ENSG00000128789 Na Na Na Na Na Na Het;A>G 77;3|3 Het;A>G 34;5|2 Hom;A>G 175;0|5 N N - 18 12695415 12695415 C A snp intronic CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs34277169 0.183307 0 0 1 0 0 intronic intronic intronic CEP76,PSMG2 CEP76,PSMG2 ENSG00000101624,ENSG00000128789 Na Na Na Na Na Na Het;C>A 145;13|6 Het;C>A 356;10|15 Hom;C>A 806;0|27 N N - 18 12700849 12700849 G A snp intronic CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs9962006 0.30631 0 0 1 0 0 intronic intronic intronic CEP76,PSMG2 CEP76,PSMG2 ENSG00000101624,ENSG00000128789 Na Na Na Na Na Na Het;G>A 157;7|6 Het;G>A 121;7|5 Hom;G>A 268;0|8 N N - 18 12700918 12700922 CATAT C indel intronic CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs137976891 0.193291 0.2466 0.2675 1 0 0 intronic intronic intronic CEP76,PSMG2 CEP76,PSMG2 ENSG00000101624,ENSG00000128789 Na Na Na Na Na Na Het;-ATAT 1024;36|29 Het;-ATAT 1120;34|30 Hom;-ATAT 2763;0|67 N N - 18 12702705 12702705 G C snp UTR5 -158C>G CEP76 Cep76 ENSG00000101624 centrosomal protein 76 chr18:12661832-12702776 This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0046599;regulation of centriole replication;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP76 https://www.uniprot.org/uniprot/Q8TAP6 http://www.informatics.jax.org/searchtool/Search.do?query=CEP76&submit=Quick%0D%2767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP76 rs35699948 0.192492 0 0 1 0 0 UTR5 UTR5 UTR5 CEP76(NM_024899:c.-158C>G,NM_001271989:c.-158C>G) CEP76(uc002krh.4:c.-5312C>G,uc002kri.4:c.-158C>G,uc010wzz.3:c.-158C>G,uc010xab.2:c.-158C>G) ENSG00000101624(ENST00000262127:c.-158C>G,ENST00000423709:c.-158C>G,ENST00000587929:c.-158C>G),ENSG00000128789(ENST00000317615:c.-402G>C) Na Na Na Na Na Na Het;G>C 956;30|39 Het;G>C 821;24|35 Hom;G>C 1514;0|54 N N - 18 12703067 12703067 A G snp UTR5 -40A>G PSMG2 Psmg2 ENSG00000128789 proteasome assembly chaperone 2 chr18:12658737-12725739 Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1 GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMG2 https://www.uniprot.org/uniprot/Q969U7 https://www.ncbi.nlm.nih.gov/omim/?term=609702 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2 rs3809916 0.305112 0.4086 0.4038 1 0 0 UTR5 UTR5 UTR5 PSMG2(NM_020232:c.-40A>G) PSMG2(uc002krj.2:c.-40A>G,uc002krk.3:c.-40A>G) ENSG00000128789(ENST00000317615:c.-40A>G,ENST00000590217:c.-40A>G,ENST00000586587:c.-40A>G) Na Na Na Na Na Na Het;A>G 1593;72|71 Het;A>G 1301;76|66 Hom;A>G 3470;0|132 N N - 18 12703192 12703192 C T snp intronic PSMG2 Psmg2 ENSG00000128789 proteasome assembly chaperone 2 chr18:12658737-12725739 Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1 GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMG2 https://www.uniprot.org/uniprot/Q969U7 https://www.ncbi.nlm.nih.gov/omim/?term=609702 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2 rs3809919 0.305112 0.4156 0.4651 1 0 0 intronic intronic intronic PSMG2 PSMG2 ENSG00000128789 Na Na Na Na Na Na Het;C>T 1346;41|55 Het;C>T 1240;39|52 Hom;C>T 2924;0|109 N N - 18 12718593 12718593 A G snp synonymous SNV A366G S122S polar,hydrophilic,neutral polar,hydrophilic,neutral PSMG2 Psmg2 ENSG00000128789 proteasome assembly chaperone 2 chr18:12658737-12725739 Crohn Disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Diabetes Mellitus, Type 1 GO:0007094;mitotic spindle assembly checkpoint;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043248;proteasome assembly;IDA|GO:0051726;regulation of cell cycle;IEA GO:0000502;proteasome complex;IBA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMG2 https://www.uniprot.org/uniprot/Q969U7 https://www.ncbi.nlm.nih.gov/omim/?term=609702 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG2&submit=Quick%0D%6182ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG2 rs2302768 0.293331 0.3990 0.3810 1 0 0 exonic exonic exonic PSMG2 PSMG2 ENSG00000128789 synonymous SNV synonymous SNV unknown PSMG2:NM_020232:exon4:c.A366G:p.S122S,PSMG2:NM_147163:exon4:c.A273G:p.S91S, PSMG2:uc002krg.3:exon4:c.A273G:p.S91S,PSMG2:uc002krj.2:exon4:c.A366G:p.S122S,PSMG2:uc002krk.3:exon4:c.A366G:p.S122S, UNKNOWN Het;A>G 1270;72|57 Het;A>G 1335;54|66 Hom;A>G 3493;1|134 N N - 18 12956453 12956454 CA C indel intronic SEH1L Seh1l ENSG00000085415 SEH1 like nucleoporin chr18:12947132-12987535 The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mitotic Prometaphase GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEH1L https://www.uniprot.org/uniprot/Q96EE3 https://www.ncbi.nlm.nih.gov/omim/?term=609263 http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L rs10541594 0 0 0 1 0 0 intronic intronic intronic SEH1L SEH1L ENSG00000085415 Na Na Na Na Na Na Het;-A 907;11|51 Ref Hom;-A 1077;4|54 N N - 18 13259214 13259214 A G snp intronic LDLRAD4 Ldlrad4 ENSG00000168675 low density lipoprotein receptor class A domain containing 4 chr18:13217497-13652754 Tunica Media; C-Reactive Protein; kidney aging; hypertension; Parkinson Disease; Body Mass Index; Waist Circumference; Body Fat Distribution; Body Weight; Tobacco Use Disorder GO:0009968;negative regulation of signal transduction;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IMP|GO:0010991;negative regulation of SMAD protein complex assembly;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0060394;negative regulation of pathway-restricted SMAD protein phosphorylation;IMP GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0070412;R-SMAD binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLRAD4 https://www.ncbi.nlm.nih.gov/omim/?term=606571 http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAD4&submit=Quick%0D%12321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAD4 rs6505793 0.54373 0 0 1 0 0 intronic intronic intronic LDLRAD4 LDLRAD4 ENSG00000168675 Na Na Na Na Na Na Het;A>G 56;1|4 Ref Hom;A>G 151;0|5 N N - 18 13731407 13731407 C CA indel intronic RNMT Rnmt ENSG00000101654 RNA guanine-7 methyltransferase chr18:13726659-13764557 Spinal Dysraphism; Tobacco Use Disorder RNA Pol II CTD phosphorylation and interaction with CE GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006397;mRNA processing;IEA|GO:0032259;methylation;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005845;mRNA cap binding complex;IDA|GO:0043235;receptor complex;IDA GO:0003723;RNA binding;TAS|GO:0004482;mRNA (guanine-N7-)-methyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNMT https://www.uniprot.org/uniprot/O43148 https://www.ncbi.nlm.nih.gov/omim/?term=603514 http://www.informatics.jax.org/searchtool/Search.do?query=RNMT&submit=Quick%0D%2770ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNMT rs397798970 0.640375 0 0 1 0 0 intronic intronic intronic RNMT RNMT ENSG00000101654 Na Na Na Na Na Na Het;+A 104;2|8 Ref Hom;+A 37;0|3 N N - 18 14337724 14337724 G T snp ncRNA_exonic CYP4F35P rs12962258 0.336661 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP4F35P CYP4F35P ENSG00000265787 Na Na Na Na Na Na Het;G>T 2132;89|88 Het;G>T 1869;126|91 Hom;G>T 4799;1|177 N N - 18 14338451 14338451 G C snp ncRNA_exonic CYP4F35P rs3927191 0.338259 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP4F35P CYP4F35P ENSG00000265787 Na Na Na Na Na Na Het;G>C 1507;52|58 Het;G>C 925;33|39 Hom;G>C 2592;0|84 N N - 18 14338752 14338752 A C snp ncRNA_exonic CYP4F35P rs1984680 0.338658 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP4F35P CYP4F35P ENSG00000265787 Na Na Na Na Na Na Het;A>C 2002;77|88 Het;A>C 1541;81|68 Hom;A>C 3761;0|130 N N - 18 14437171 14437171 G C snp intergenic CYP4F35P rs58613436 0.40635 0 0 1 0 0 intergenic intergenic intergenic CYP4F35P(dist=94648),CXADRP3(dist=40783) CYP4F35P(dist=94648),CXADRP3(dist=40783) ENSG00000265296(dist=43263),ENSG00000266605(dist=13044) Na Na Na Na Na Na Het;G>C 120;7|7 Het;G>C 296;19|17 Hom;G>C 454;0|19 N N - 18 15072208 15072208 C T snp intergenic LINC01443 rs3914206 0.587859 0 0 1 0 0 intergenic intergenic intergenic LINC01443(dist=98453),LOC644669(dist=241347) ANKRD30B(dist=219471),LOC644669(dist=241347) ENSG00000266522(dist=65857),ENSG00000263635(dist=3236) Na Na Na Na Na Na Het;C>T 187;5|9 Het;C>T 131;8|6 Hom;C>T 311;0|12 N N - 18 15072460 15072460 A C snp intergenic LINC01443 rs6565743 0 0 0 1 0 0 intergenic intergenic intergenic LINC01443(dist=98705),LOC644669(dist=241095) ANKRD30B(dist=219723),LOC644669(dist=241095) ENSG00000266522(dist=66109),ENSG00000263635(dist=2984) Na Na Na Na Na Na Het;A>C 134;2|4 Het;A>C 95;1|3 Hom;A>C 312;0|8 N N - 18 15072465 15072465 C T snp intergenic LINC01443 rs6565744 0 0 0 1 0 0 intergenic intergenic intergenic LINC01443(dist=98710),LOC644669(dist=241090) ANKRD30B(dist=219728),LOC644669(dist=241090) ENSG00000266522(dist=66114),ENSG00000263635(dist=2979) Na Na Na Na Na Na Het;C>T 134;2|4 Het;C>T 95;1|3 Hom;C>T 287;0|7 N N - 18 15122502 15122502 G A snp ncRNA_exonic AP005242.1 rs1849273 0.578674 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01443(dist=148747),LOC644669(dist=191053) ANKRD30B(dist=269765),LOC644669(dist=191053) ENSG00000263635 Na Na Na Na Na Na Het;G>A 140;4|6 Ref Hom;G>A 155;0|5 N N - 18 15314015 15314015 C T snp ncRNA_exonic LOC644669 rs55924305 0.402157 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC644669 LOC644669 ENSG00000215512 Na Na Na Na Na Na Het;C>T 135;2|5 Ref Hom;C>T 116;0|4 N N - 18 15318268 15318268 T C snp ncRNA_intronic LOC644669 rs4524199 0.688099 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC644669 LOC644669 ENSG00000215512 Na Na Na Na Na Na Het;T>C 338;8|14 Het;T>C 188;6|8 Hom;T>C 1029;0|40 N N - 18 18520181 18520181 T G snp intergenic NONE rs62089192 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),ROCK1(dist=9522) NONE(dist=NONE),ROCK1(dist=9522) NONE(dist=NONE),ENSG00000067900(dist=6686) Na Na Na Na Na Na Het;T>G 170;2|5 Het;T>G 347;1|9 Hom;T>G 1148;1|29 N N - 18 19100854 19100854 A G snp intronic GREB1L Greb1l ENSG00000141449 growth regulation by estrogen in breast cancer 1 like chr18:18822203-19105378 Mice homozygous for a knock-out allele exhibit embryonic lethality, decreased embryo size, bilateral kidney agenesis, absence of Wolffian and Mullerian ducts, small testis, heart defects, and exencephaly. Heterozygotes display a slight decrease in ureteric bud branching morphogenesis. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GREB1L https://www.uniprot.org/uniprot/Q9C091 https://hpo.jax.org/app/browse/search?q=GREB1L&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=GREB1L&submit=Quick%0D%8167ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GREB1L rs9947441 0.389177 0 0 1 0 0 intronic intronic intronic GREB1L GREB1L ENSG00000141449 Na Na Na Na Na Na Het;A>G 856;21|34 Het;A>G 673;19|27 Hom;A>G 818;0|30 N N - 18 196829 196829 G A snp intronic USP14 Usp14 ENSG00000101557 ubiquitin specific peptidase 14 chr18:158383-214629 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Homozygotes for a hypomorphic mutation develop severe tremors by 3 weeks of age, followed by hindlimb paralysis and premature death. An underdeveloped corpus callosum, hippocampus, dentate gyrus and forebrain structures, and notable defects in synaptic transmission in both the CNS and PNS are seen. Ub-specific processing proteases GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0016579;protein deubiquitination;TAS|GO:0050920;regulation of chemotaxis;IMP|GO:0061136;regulation of proteasomal protein catabolic process;IMP|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP GO:0000502;proteasome complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0004866;endopeptidase inhibitor activity;IMP|GO:0005515;protein binding;IPI|GO:0008193;tRNA guanylyltransferase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA|GO:0070628;proteasome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/USP14 https://www.uniprot.org/uniprot/P54578 https://www.ncbi.nlm.nih.gov/omim/?term=607274 http://www.informatics.jax.org/searchtool/Search.do?query=USP14&submit=Quick%0D%2760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP14 rs655781 0.686901 0 0 1 0 0 intronic intronic intronic USP14 USP14 ENSG00000101557 Na Na Na Na Na Na Het;G>A 477;26|21 Het;G>A 637;13|23 Hom;G>A 965;0|32 N N - 18 19995753 19995753 T C snp synonymous SNV A2022G P674P hydrophobic,neutral hydrophobic,neutral CTAGE1 Ctage5 ENSG00000282841 cutaneous T-cell lymphoma-associated antigen 1 chr18:19993564-19997878 Brain GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTAGE1 https://www.ncbi.nlm.nih.gov/omim/?term=608856 http://www.informatics.jax.org/searchtool/Search.do?query=CTAGE1&submit=Quick%0D%22631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTAGE1 rs9946145 0.685503 0.7344 0.8453 1 0 0 exonic exonic exonic CTAGE1 CTAGE1 ENSG00000212710 synonymous SNV synonymous SNV unknown CTAGE1:NM_172241:exon1:c.A2022G:p.P674P, CTAGE1:uc002ktv.1:exon1:c.A2022G:p.P674P, UNKNOWN Het;T>C 3623;141|152 Het;T>C 3069;150|137 Hom;T>C 8751;2|309 N N - 18 21124907 21124907 A AC indel intronic NPC1 Npc1 ENSG00000141458 NPC intracellular cholesterol transporter 1 chr18:21086148-21166862 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. LDL clearance GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NPC1 https://www.uniprot.org/uniprot/O15118 https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607623 http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1 rs3837910 0.160343 0 0 1 0 0 intronic intronic intronic NPC1 NPC1 ENSG00000141458 Na Na Na Na Na Na Het;+C 837;7|38 Ref Hom;+C 811;3|32 N N - 18 21209988 21209988 G A snp intronic ANKRD29 Ankrd29 ENSG00000154065 ankyrin repeat domain 29 chr18:21178890-21242849 Chronic renal failure|Kidney Failure, Chronic GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD29 https://www.uniprot.org/uniprot/Q8N6D5 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD29&submit=Quick%0D%9720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD29 rs11660305 0.442492 0 0 1 0 0 intronic intronic intronic ANKRD29 ANKRD29 ENSG00000154065 Na Na Na Na Na Na Het;G>A 225;13|11 Het;G>A 214;15|10 Hom;G>A 661;0|23 N N - 18 224184 224184 C G snp unknown THOC1 Thoc1 ENSG00000079134 THO complex 1 chr18:214520-268050 HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010] Bipolar Disorder Mutations in this gene result in embryonic lethality around implantation in homozygotes. mRNA 3'-end processing GO:0000018;regulation of DNA recombination;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IDA|GO:0007165;signal transduction;IEA|GO:0008380;RNA splicing;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0031297;replication fork processing;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IMP|GO:0046784;viral mRNA export from host cell nucleus;IDA|GO:0048297;negative regulation of isotype switching to IgA isotypes;IEA|GO:0051028;mRNA transport;IEA|GO:2000002;negative regulation of DNA damage checkpoint;IMP GO:0000346;transcription export complex;IDA|GO:0000347;THO complex;IDA|GO:0000445;THO complex part of transcription export complex;IDA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA|GO:0045171;intercellular bridge;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/THOC1 https://www.uniprot.org/uniprot/Q96FV9 https://www.ncbi.nlm.nih.gov/omim/?term=606930 http://www.informatics.jax.org/searchtool/Search.do?query=THOC1&submit=Quick%0D%1686ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THOC1 rs631343 0.701078 0.6649 0.7068 0.25 1 4 intronic intronic exonic THOC1 THOC1 ENSG00000079134 Na Na unknown Na Na UNKNOWN Het;C>G 1306;67|67 Het;C>G 920;58|47 Hom;C>G 3047;0|111 N N - 18 25562831 25562831 C T snp intronic CDH2 Cdh2 ENSG00000170558 cadherin 2 chr18:25530930-25757410 This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015] Echocardiography; Cleft Lip|Cleft Palate|Tooth Abnormalities; Hip; Tobacco Use Disorder; Heart Failure; Myocardial Infarction; Cholesterol; Eosinophils; Nonalcoholic Fatty Liver Disease; Erythrocyte Count; von Willebrand Factor; Cleft Lip|Cleft Palate; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms Homozygous mutation of this gene results in death by E10. Mutant embryos exhibit several developmental abnormalities such as growth retardation, an enlarged heart, distended pericardial sacs, abnormal heart tube, wavy neural tube, irregular somite shape,and abnormal embryo turning. Post-translational protein phosphorylation GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0009966;regulation of signal transduction;IEA|GO:0010001;glial cell differentiation;ISS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0016477;cell migration;IEA|GO:0021537;telencephalon development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0034332;adherens junction organization;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044331;cell-cell adhesion mediated by cadherin;ISS|GO:0048514;blood vessel morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060019;radial glial cell differentiation;IEA|GO:0060563;neuroepithelial cell differentiation;IEA|GO:0070445;regulation of oligodendrocyte progenitor proliferation;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:0097150;neuronal stem cell population maintenance;ISS|GO:1902897;regulation of postsynaptic density protein 95 clustering;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0009966;regulation of signal transduction;IEA|GO:0010001;glial cell differentiation;ISS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0016477;cell migration;IEA|GO:0021537;telencephalon development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0034332;adherens junction organization;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044331;cell-cell adhesion mediated by cadherin;ISS|GO:0048514;blood vessel morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060019;radial glial cell differentiation;IEA|GO:0060563;neuroepithelial cell differentiation;IEA|GO:0070445;regulation of oligodendrocyte progenitor proliferation;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:0097150;neuronal stem cell population maintenance;ISS|GO:1902897;regulation of postsynaptic density protein 95 clustering;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA GO:0005737;cytoplasm;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;ISS|GO:0014069;postsynaptic density;IEA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0042383;sarcolemma;IEA|GO:0044853;plasma membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0045294;alpha-catenin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH2 https://www.uniprot.org/uniprot/P19022 https://www.ncbi.nlm.nih.gov/omim/?term=114020 http://www.informatics.jax.org/searchtool/Search.do?query=CDH2&submit=Quick%0D%216ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH2 rs8092870 0.241613 0 0 1 0 0 intronic intronic intronic CDH2 CDH2 ENSG00000170558 Na Na Na Na Na Na Het;C>T 32;2|2 Ref Hom;C>T 125;0|4 N N - 18 2655070 2655070 A G snp ncRNA_intronic CBX3P2 rs28601731 0.353035 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CBX3P2 CBX3P2 ENSG00000266405 Na Na Na Na Na Na Het;A>G 475;15|21 Het;A>G 216;11|7 Hom;A>G 994;0|35 N N - 18 27601575 27601575 A T snp intergenic CDH2 Cdh2 ENSG00000170558 cadherin 2 chr18:25530930-25757410 This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015] Echocardiography; Cleft Lip|Cleft Palate|Tooth Abnormalities; Hip; Tobacco Use Disorder; Heart Failure; Myocardial Infarction; Cholesterol; Eosinophils; Nonalcoholic Fatty Liver Disease; Erythrocyte Count; von Willebrand Factor; Cleft Lip|Cleft Palate; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms Homozygous mutation of this gene results in death by E10. Mutant embryos exhibit several developmental abnormalities such as growth retardation, an enlarged heart, distended pericardial sacs, abnormal heart tube, wavy neural tube, irregular somite shape,and abnormal embryo turning. Post-translational protein phosphorylation GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0009966;regulation of signal transduction;IEA|GO:0010001;glial cell differentiation;ISS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0016477;cell migration;IEA|GO:0021537;telencephalon development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0034332;adherens junction organization;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044331;cell-cell adhesion mediated by cadherin;ISS|GO:0048514;blood vessel morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060019;radial glial cell differentiation;IEA|GO:0060563;neuroepithelial cell differentiation;IEA|GO:0070445;regulation of oligodendrocyte progenitor proliferation;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:0097150;neuronal stem cell population maintenance;ISS|GO:1902897;regulation of postsynaptic density protein 95 clustering;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0009966;regulation of signal transduction;IEA|GO:0010001;glial cell differentiation;ISS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0016477;cell migration;IEA|GO:0021537;telencephalon development;IEA|GO:0021987;cerebral cortex development;IEA|GO:0034332;adherens junction organization;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044331;cell-cell adhesion mediated by cadherin;ISS|GO:0048514;blood vessel morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060019;radial glial cell differentiation;IEA|GO:0060563;neuroepithelial cell differentiation;IEA|GO:0070445;regulation of oligodendrocyte progenitor proliferation;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:0097150;neuronal stem cell population maintenance;ISS|GO:1902897;regulation of postsynaptic density protein 95 clustering;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA GO:0005737;cytoplasm;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005916;fascia adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;ISS|GO:0014069;postsynaptic density;IEA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IDA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0042383;sarcolemma;IEA|GO:0044853;plasma membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0019899;enzyme binding;IEA|GO:0019901;protein kinase binding;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0045294;alpha-catenin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH2 https://www.uniprot.org/uniprot/P19022 https://www.ncbi.nlm.nih.gov/omim/?term=114020 http://www.informatics.jax.org/searchtool/Search.do?query=CDH2&submit=Quick%0D%216ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH2 rs9952615 0.585863 0 0 1 0 0 intergenic intergenic intergenic CDH2(dist=1844130),MIR302F(dist=277301) CDH2(dist=1844130),MIR302F(dist=277301) ENSG00000264587(dist=473369),ENSG00000266196(dist=691666) Na Na Na Na Na Na Het;A>T 46;2|3 Ref Hom;A>T 278;0|8 N N - 18 28662776 28662776 G A snp intronic DSC2 Dsc2 ENSG00000134755 desmocollin 2 chr18:28645940-28682378 This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia; null; Cardiomyopathy, Dilated| Formation of the cornified envelope GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0009267;cellular response to starvation;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS|GO:0086042;cardiac muscle cell-cardiac muscle cell adhesion;IMP|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC http://www.genecards.org/index.php?path=/Search/keyword/DSC2 https://www.uniprot.org/uniprot/Q02487 https://hpo.jax.org/app/browse/search?q=DSC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125645 http://www.informatics.jax.org/searchtool/Search.do?query=DSC2&submit=Quick%0D%7023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSC2 rs1790702 0.380391 0 0 1 0 0 intronic intronic intronic DSC2 DSC2 ENSG00000134755 Na Na Na Na Na Na Het;G>A 319;15|11 Het;G>A 136;8|6 Hom;G>A 240;0|7 N N - 18 28918204 28918205 AC A indel intronic DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs144346664 0.234225 0 0 1 0 0 intronic intronic intronic DSG1 DSG1 ENSG00000134760 Na Na Na Na Na Na Het;-C 316;13|13 Het;-C 99;5|5 Hom;-C 507;0|17 N N - 18 28919779 28919779 A C snp nonsynonymous SNV A1478C N493T polar,hydrophilic,neutral polar,hydrophilic,neutral DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs8091003 0.235224 0.2034 0.1298 0.08 1 13 exonic exonic exonic DSG1 DSG1 ENSG00000134760 nonsynonymous SNV nonsynonymous SNV unknown DSG1:NM_001942:exon11:c.A1478C:p.N493T, DSG1:uc002kwp.3:exon11:c.A1478C:p.N493T, UNKNOWN Het;A>C 945;46|41 Het;A>C 1316;72|58 Hom;A>C 3364;0|122 N N - 18 28919794 28919794 C A snp nonsynonymous SNV C1493A T498N polar,hydrophilic,neutral polar,hydrophilic,neutral DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs8091117 0.223442 0.1919 0.1265 0.08 1 13 exonic exonic exonic DSG1 DSG1 ENSG00000134760 nonsynonymous SNV nonsynonymous SNV unknown DSG1:NM_001942:exon11:c.C1493A:p.T498N, DSG1:uc002kwp.3:exon11:c.C1493A:p.T498N, UNKNOWN Het;C>A 954;54|46 Het;C>A 1426;76|66 Hom;C>A 3470;1|129 N N - 18 28919884 28919884 A C snp nonsynonymous SNV A1583C Y528S aromatic,polar,hydrophobic polar,hydrophilic,neutral DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs16961689 0.148762 0.1079 0.1034 0.08 1 13 exonic exonic exonic DSG1 DSG1 ENSG00000134760 nonsynonymous SNV nonsynonymous SNV unknown DSG1:NM_001942:exon11:c.A1583C:p.Y528S, DSG1:uc002kwp.3:exon11:c.A1583C:p.Y528S, UNKNOWN Het;A>C 1315;72|55 Het;A>C 1498;77|62 Hom;A>C 4266;0|151 N N - 18 28919911 28919911 A G snp nonsynonymous SNV A1610G K537R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs61730306 0.148762 0.0011 0.1034 0.08 1 13 exonic exonic exonic DSG1 DSG1 ENSG00000134760 nonsynonymous SNV nonsynonymous SNV unknown DSG1:NM_001942:exon11:c.A1610G:p.K537R, DSG1:uc002kwp.3:exon11:c.A1610G:p.K537R, UNKNOWN Het;A>G 2180;70|59 Het;A>G 2576;73|68 Hom;A>G 6046;0|137 N N - 18 28919913 28919913 G A snp nonsynonymous SNV G1612A D538N polar,hydrophilic,charged(-) polar,hydrophilic,neutral DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs34302455 0.148962 0.0008 0.1033 0.08 1 13 exonic exonic exonic DSG1 DSG1 ENSG00000134760 nonsynonymous SNV nonsynonymous SNV unknown DSG1:NM_001942:exon11:c.G1612A:p.D538N, DSG1:uc002kwp.3:exon11:c.G1612A:p.D538N, UNKNOWN Het;G>A 2180;69|57 Het;G>A 2576;73|69 Hom;G>A 6046;0|134 N N - 18 28920081 28920081 C T snp intronic DSG1 Dsg1b ENSG00000134760 desmoglein 1 chr18:28898052-28936992 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] pemphigus foliaceus; Esophagitis; eosinophilic esophagitis (pediatric) Formation of the cornified envelope GO:0007043;cell-cell junction assembly;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS|GO:0031424;keratinization;TAS|GO:0032570;response to progesterone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0015643;toxic substance binding;NAS|GO:0045295;gamma-catenin binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DSG1 https://www.uniprot.org/uniprot/Q02413 https://hpo.jax.org/app/browse/search?q=DSG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125670 http://www.informatics.jax.org/searchtool/Search.do?query=DSG1&submit=Quick%0D%7027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSG1 rs72927192 0.151558 0 0 1 0 0 intronic intronic intronic DSG1 DSG1 ENSG00000134760 Na Na Na Na Na Na Het;C>T 499;6|19 Het;C>T 84;9|5 Hom;C>T 723;0|24 N N - 18 32459704 32459704 A G snp intronic DTNA Dtna ENSG00000134769 dystrobrevin alpha chr18:32073254-32471808 The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; inherited myopathy; Magnesium Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. GO:0006941;striated muscle contraction;TAS|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007274;neuromuscular synaptic transmission;TAS GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IEA|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0030165;PDZ domain binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DTNA https://www.uniprot.org/uniprot/Q9Y4J8 https://hpo.jax.org/app/browse/search?q=DTNA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601239 http://www.informatics.jax.org/searchtool/Search.do?query=DTNA&submit=Quick%0D%7030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DTNA rs2288085 0.262181 0.3033 0.2255 1 0 0 intronic intronic intronic DTNA DTNA ENSG00000134769 Na Na Na Na Na Na Het;A>G 331;28|16 Het;A>G 648;18|27 Hom;A>G 1402;0|51 N N - 18 33877666 33877666 C G snp UTR5 -133C>G FHOD3 Fhod3 ENSG00000134775 formin homology 2 domain containing 3 chr18:33877677-34360018 The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality. GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FHOD3 https://www.uniprot.org/uniprot/Q2V2M9 https://www.ncbi.nlm.nih.gov/omim/?term=609691 http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3 rs148190588 0.160942 0 0 1 0 0 UTR5 upstream upstream FHOD3(NM_001281740:c.-133C>G,NM_025135:c.-133C>G,NM_001281739:c.-133C>G) FHOD3 ENSG00000134775 Na Na Na Na Na Na Het;C>G 386;2|10 Ref Hom;C>G 197;0|5 N N - 18 33877687 33877687 T C snp UTR5 -112T>C FHOD3 Fhod3 ENSG00000134775 formin homology 2 domain containing 3 chr18:33877677-34360018 The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality. GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FHOD3 https://www.uniprot.org/uniprot/Q2V2M9 https://www.ncbi.nlm.nih.gov/omim/?term=609691 http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3 rs188660514 0.908746 0 0 1 0 0 UTR5 upstream UTR5 FHOD3(NM_001281740:c.-112T>C,NM_025135:c.-112T>C,NM_001281739:c.-112T>C) FHOD3 ENSG00000134775(ENST00000257209:c.-112T>C) Na Na Na Na Na Na Het;T>C 422;3|11 Ref Hom;T>C 280;0|8 N N - 18 34174958 34174958 T C snp intronic FHOD3 Fhod3 ENSG00000134775 formin homology 2 domain containing 3 chr18:33877677-34360018 The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality. GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FHOD3 https://www.uniprot.org/uniprot/Q2V2M9 https://www.ncbi.nlm.nih.gov/omim/?term=609691 http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3 rs8087763 0.719848 0 0 1 0 0 intronic intronic intronic FHOD3 FHOD3 ENSG00000134775 Na Na Na Na Na Na Het;T>C 521;15|17 Het;T>C 251;19|13 Hom;T>C 1142;0|36 N N - 18 34182800 34182800 A G snp intronic FHOD3 Fhod3 ENSG00000134775 formin homology 2 domain containing 3 chr18:33877677-34360018 The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; response to antipsychotic treatment; Perphenazine; Cholesterol, LDL Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality. GO:0007015;actin filament organization;IEA|GO:0030837;negative regulation of actin filament polymerization;IEA|GO:0045214;sarcomere organization;IEA|GO:0051639;actin filament network formation;IEA|GO:0055003;cardiac myofibril assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005865;striated muscle thin filament;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FHOD3 https://www.uniprot.org/uniprot/Q2V2M9 https://www.ncbi.nlm.nih.gov/omim/?term=609691 http://www.informatics.jax.org/searchtool/Search.do?query=FHOD3&submit=Quick%0D%7031ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHOD3 rs34287129 0.257188 0 0 1 0 0 intronic intronic intronic FHOD3 FHOD3 ENSG00000134775 Na Na Na Na Na Na Het;A>G 482;27|19 Het;A>G 185;7|8 Hom;A>G 925;0|32 N N - 18 38278004 38278004 T A snp intergenic LINC01477 rs9946537 0.464457 0 0 1 0 0 intergenic intergenic intergenic LINC01477(dist=598807),KC6(dist=782232) BC045816(dist=598807),KC6(dist=782232) ENSG00000238333(dist=225158),ENSG00000267313(dist=769391) Na Na Na Na Na Na Het;T>A 257;7|13 Het;T>A 130;8|6 Hom;T>A 218;0|9 N N - 18 42260834 42260834 A AT indel intronic SETBP1 Setbp1 ENSG00000152217 SET binding protein 1 chr18:42260138-42648475 This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Waist Circumference; Heart Function Tests; Macular Degeneration; Menarche; Body Mass Index; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Glomerular Filtration Rate; Hand Strength; Albumins; Creatinine; Diabetes Mellitus; Bone Density; Prostatic Neoplasms; Alcoholism; Diabetes Mellitus, Type 2 GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SETBP1 https://www.uniprot.org/uniprot/Q9Y6X0 https://hpo.jax.org/app/browse/search?q=SETBP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611060 http://www.informatics.jax.org/searchtool/Search.do?query=SETBP1&submit=Quick%0D%9519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SETBP1 rs34436546 0.708267 0 0 1 0 0 intronic intronic intronic SETBP1 SETBP1 ENSG00000152217 Na Na Na Na Na Na Het;+T 2722;19|120 Het;+T 1128;71|56 Hom;+T 2757;12|114 N N - 18 43018028 43018028 A G snp ncRNA_intronic SLC14A2-AS1 rs993602 0.517572 0 0 1 0 0 intronic intronic ncRNA_intronic SLC14A2 SLC14A2 ENSG00000267097 Na Na Na Na Na Na Het;A>G 35;4|2 Het;A>G 41;4|2 Hom;A>G 433;0|15 N N - 18 43018264 43018264 T C snp ncRNA_exonic SLC14A2-AS1 rs1054986 0.286741 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SLC14A2-AS1 AK126075 ENSG00000267097 Na Na Na Na Na Na Het;T>C 1165;51|54 Het;T>C 788;67|42 Hom;T>C 3360;0|125 N N - 18 43028091 43028091 A T snp ncRNA_exonic SLC14A2-AS1 rs1421197 0.1875 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic SLC14A2-AS1 AK126075 ENSG00000267097 Na Na Na Na Na Na Het;A>T 1361;77|54 Het;A>T 1722;66|71 Hom;A>T 3619;0|127 N N - 18 43028119 43028119 T C snp ncRNA_exonic SLC14A2-AS1 rs1421198 0.192492 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic SLC14A2-AS1 AK126075 ENSG00000267097 Na Na Na Na Na Na Het;T>C 1655;74|59 Het;T>C 1819;68|73 Hom;T>C 3660;0|128 N N - 18 43087106 43087106 C T snp ncRNA_intronic BC038429 rs2852312 0.70028 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic SLC14A2 BC038429 ENSG00000266988 Na Na Na Na Na Na Het;C>T 57;4|3 Ref Hom;C>T 81;0|3 N N - 18 43307246 43307246 C T snp nonsynonymous SNV C10T R4W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral SLC14A1 Slc14a1 ENSG00000141469 solute carrier family 14 member 1 (Kidd blood group) chr18:43304092-43332485 The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris; Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. Transport of bile salts and organic acids, metal ions and amine compounds GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1 https://www.uniprot.org/uniprot/Q13336 https://www.ncbi.nlm.nih.gov/omim/?term=613868 http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1 rs11877062 0.401957 0.4074 0.4349 0.33 4 12 exonic exonic exonic SLC14A1 SLC14A1 ENSG00000141469 nonsynonymous SNV nonsynonymous SNV unknown SLC14A1:NM_001146037:exon1:c.C10T:p.R4W,SLC14A1:NM_001128588:exon3:c.C10T:p.R4W, SLC14A1:uc010dnk.3:exon3:c.C10T:p.R4W,SLC14A1:uc002lbj.4:exon1:c.C10T:p.R4W, UNKNOWN Het;C>T 1286;78|59 Het;C>T 1110;84|54 Hom;C>T 3145;0|116 N N - 18 43307338 43307338 C A snp synonymous SNV C102A G34G aliphatic,neutral aliphatic,neutral SLC14A1 Slc14a1 ENSG00000141469 solute carrier family 14 member 1 (Kidd blood group) chr18:43304092-43332485 The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris; Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. Transport of bile salts and organic acids, metal ions and amine compounds GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1 https://www.uniprot.org/uniprot/Q13336 https://www.ncbi.nlm.nih.gov/omim/?term=613868 http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1 rs11877086 0.402556 0.4065 0.4329 1 0 0 exonic exonic exonic SLC14A1 SLC14A1 ENSG00000141469 synonymous SNV synonymous SNV unknown SLC14A1:NM_001146037:exon1:c.C102A:p.G34G,SLC14A1:NM_001128588:exon3:c.C102A:p.G34G, SLC14A1:uc010dnk.3:exon3:c.C102A:p.G34G,SLC14A1:uc002lbj.4:exon1:c.C102A:p.G34G, UNKNOWN Het;C>A 2039;101|95 Het;C>A 1945;120|92 Hom;C>A 5626;0|208 N N - 18 43310187 43310187 A G snp UTR5 -99A>G SLC14A1 Slc14a1 ENSG00000141469 solute carrier family 14 member 1 (Kidd blood group) chr18:43304092-43332485 The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris; Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. Transport of bile salts and organic acids, metal ions and amine compounds GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1 https://www.uniprot.org/uniprot/Q13336 https://www.ncbi.nlm.nih.gov/omim/?term=613868 http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1 rs8090908 0.402356 0 0 1 0 0 intronic UTR5 ncRNA_intronic SLC14A1 SLC14A1(uc002lbk.4:c.-99A>G) ENSG00000267193 Na Na Na Na Na Na Het;A>G 110;9|5 Het;A>G 426;7|14 Hom;A>G 206;0|8 N N - 18 43314473 43314473 T A snp ncRNA_intronic AC023421.2 rs8096571 0.414537 0 0 1 0 0 intronic intronic ncRNA_intronic SLC14A1 SLC14A1 ENSG00000267193 Na Na Na Na Na Na Het;T>A 369;4|11 Het;T>A 183;5|7 Hom;T>A 347;0|13 N N - 18 43316538 43316538 A G snp synonymous SNV A756G P252P hydrophobic,neutral hydrophobic,neutral SLC14A1 Slc14a1 ENSG00000141469 solute carrier family 14 member 1 (Kidd blood group) chr18:43304092-43332485 The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris; Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. Transport of bile salts and organic acids, metal ions and amine compounds GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1 https://www.uniprot.org/uniprot/Q13336 https://www.ncbi.nlm.nih.gov/omim/?term=613868 http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1 rs2298718 0.711262 0.5813 0.6357 1 0 0 exonic exonic exonic SLC14A1 SLC14A1 ENSG00000141469 synonymous SNV synonymous SNV unknown SLC14A1:NM_001146037:exon5:c.A756G:p.P252P,SLC14A1:NM_015865:exon6:c.A588G:p.P196P,SLC14A1:NM_001146036:exon7:c.A588G:p.P196P,SLC14A1:NM_001128588:exon7:c.A756G:p.P252P, SLC14A1:uc010xcn.2:exon7:c.A588G:p.P196P,SLC14A1:uc002lbi.4:exon4:c.A192G:p.P64P,SLC14A1:uc002lbf.4:exon6:c.A588G:p.P196P,SLC14A1:uc010xco.2:exon5:c.A273G:p.P91P,SLC14A1:uc002lbh.4:exon5:c.A264G:p.P88P,SLC14A1:uc010dnk.3:exon7:c.A756G:p.P252P,SLC14A1:uc002lbk.4:exon4:c.A588G:p.P196P,SLC14A1:uc021ujg.1:exon4:c.A588G:p.P196P,SLC14A1:uc002lbj.4:exon5:c.A756G:p.P252P, UNKNOWN Het;A>G 1130;45|48 Het;A>G 987;60|47 Hom;A>G 3320;0|123 N N - 18 43319519 43319519 G A snp nonsynonymous SNV G838A D280N polar,hydrophilic,charged(-) polar,hydrophilic,neutral SLC14A1 Slc14a1 ENSG00000141469 solute carrier family 14 member 1 (Kidd blood group) chr18:43304092-43332485 The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] Urinary Bladder Neoplasms; Tobacco Use Disorder; psoriasis vulgaris; null; Hyperparathyroidism, Secondary; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris; Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. Transport of bile salts and organic acids, metal ions and amine compounds GO:0006810;transport;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;TAS|GO:0055085;transmembrane transport;TAS|GO:0071918;urea transmembrane transport;IDA GO:0005730;nucleolus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005372;water transmembrane transporter activity;IEA|GO:0015204;urea transmembrane transporter activity;TAS|GO:0015265;urea channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC14A1 https://www.uniprot.org/uniprot/Q13336 https://www.ncbi.nlm.nih.gov/omim/?term=613868 http://www.informatics.jax.org/searchtool/Search.do?query=SLC14A1&submit=Quick%0D%8171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC14A1 rs1058396 0.410942 0.4110 0.4695 0.15 2 13 exonic exonic exonic SLC14A1 SLC14A1 ENSG00000141469 nonsynonymous SNV nonsynonymous SNV unknown SLC14A1:NM_001146037:exon7:c.G1006A:p.D336N,SLC14A1:NM_015865:exon8:c.G838A:p.D280N,SLC14A1:NM_001146036:exon9:c.G838A:p.D280N,SLC14A1:NM_001128588:exon9:c.G1006A:p.D336N, SLC14A1:uc010xcn.2:exon9:c.G838A:p.D280N,SLC14A1:uc002lbi.4:exon6:c.G442A:p.D148N,SLC14A1:uc002lbf.4:exon8:c.G838A:p.D280N,SLC14A1:uc010xco.2:exon7:c.G523A:p.D175N,SLC14A1:uc002lbh.4:exon7:c.G514A:p.D172N,SLC14A1:uc010dnk.3:exon9:c.G1006A:p.D336N,SLC14A1:uc002lbk.4:exon6:c.G838A:p.D280N,SLC14A1:uc002lbj.4:exon7:c.G1006A:p.D336N, UNKNOWN Het;G>A 774;59|33 Het;G>A 670;42|30 Hom;G>A 1702;1|59 N N - 18 47016721 47016721 A AAT indel ncRNA_intronic AC100778.4 rs3831447 0.591853 0 0 1 0 0 intronic intronic ncRNA_intronic RPL17,RPL17-C18orf32 RPL17,RPL17-C18orf32 ENSG00000265496 Na Na Na Na Na Na Het;+AT 504;14|13 Het;+AT 624;2|16 Hom;+AT 1043;0|24 N N - 18 47405425 47405425 T TGAG indel nonframeshift substitution 3166_3166delinsCTCA MYO5B Myo5b ENSG00000167306 myosin VB chr18:47349183-47721463 The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009] Tobacco Use Disorder; Diabetic Nephropathies; Forced Expiratory Volume; Diabetes Mellitus Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease. Vasopressin regulates renal water homeostasis via Aquaporins GO:0003091;renal water homeostasis;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IMP|GO:0032439;endosome localization;IMP GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045179;apical cortex;IDA|GO:0055037;recycling endosome;IC|GO:0070062;extracellular exosome;IDA GO:0000146;microfilament motor activity;TAS|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0017137;Rab GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MYO5B https://hpo.jax.org/app/browse/search?q=MYO5B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606540 http://www.informatics.jax.org/searchtool/Search.do?query=MYO5B&submit=Quick%0D%11992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO5B rs3841750 0.404752 0.3017 0.3420 1 0 0 exonic exonic exonic MYO5B MYO5B ENSG00000167306 nonframeshift substitution nonframeshift substitution unknown MYO5B:NM_001080467:exon24:c.3166_3166delinsCTCA, MYO5B:uc002lea.2:exon4:c.589_589delinsCTCA,MYO5B:uc002leb.2:exon24:c.3166_3166delinsCTCA, UNKNOWN Het;+GAG 985;51|28 Het;+GAG 1406;37|36 Hom;+GAG 2528;0|57 N N - 18 50217393 50217393 C T snp intronic DCC Dcc ENSG00000187323 DCC netrin 1 receptor chr18:49866542-51057784 This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009] Erythrocytes; colorectal cancer; Narcolepsy; Follicle Stimulating Hormone; Parkinson's disease ; Arteries; Macular Degeneration; Gallbladder Neoplasms; Celiac Disease|; longevity; Creatinine; Hip; rheumatoid arthritis; diabetes, type 1; Graves' disease; Alcoholism; Coronary Disease|Coronary heart disease|Myocardial Infarction; inflammatory bowel disease ; Glomerular Filtration Rate; diabetic nephropathy; Body Weight Changes; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; schizophrenia; Diabetes Mellitus; Tobacco Use Disorder; Myocardial Infarction Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems. Incidence of tumors increases in mutations preventing netrin-1 binding. Role of second messengers in netrin-1 signaling GO:0001764;neuron migration;IEA|GO:0006915;apoptotic process;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;TAS|GO:0007411;axon guidance;TAS|GO:0010977;negative regulation of neuron projection development;TAS|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0033564;anterior/posterior axon guidance;IEA|GO:0038007;netrin-activated signaling pathway;IEA|GO:0048671;negative regulation of collateral sprouting;TAS|GO:0055072;iron ion homeostasis;IEA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;TAS|GO:1901214;regulation of neuron death;IMP|GO:2000171;negative regulation of dendrite development;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA GO:0004872;receptor activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005042;netrin receptor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCC https://hpo.jax.org/app/browse/search?q=DCC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120470 http://www.informatics.jax.org/searchtool/Search.do?query=DCC&submit=Quick%0D%15817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCC rs17829061 0.0247604 0 0 1 0 0 intronic intronic intronic DCC DCC ENSG00000187323 Na Na Na Na Na Na Het;C>T 143;8|7 Het;C>T 199;11|9 Hom;C>T 519;0|16 N N - 18 51731308 51731308 G A snp intronic MBD2 Mbd2 ENSG00000134046 methyl-CpG binding domain protein 2 chr18:51679079-51751158 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] chronic obstructive pulmonary disease; lung cancer; breast cancer; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer ; bladder cancer; breast cancer ; esophageal adenocarcinoma; diabetic nephropathy Mice homozygous for disruption sin this gene are grossly normal. Maternal nurturing problems exist however and they are somewhat resistant to dumor development. RNA Polymerase I Promoter Opening GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000183;chromatin silencing at rDNA;TAS|GO:0006346;methylation-dependent chromatin silencing;IGI|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032355;response to estradiol;IEA|GO:0035563;positive regulation of chromatin binding;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042711;maternal behavior;IEA|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043623;cellular protein complex assembly;IEA|GO:0044030;regulation of DNA methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0048568;embryonic organ development;IEA|GO:0071407;cellular response to organic cyclic compound;IEA GO:0000118;histone deacetylase complex;IEA|GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043234;protein complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003696;satellite DNA binding;TAS|GO:0003729;mRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008327;methyl-CpG binding;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031492;nucleosomal DNA binding;IDA|GO:0035197;siRNA binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MBD2 https://www.uniprot.org/uniprot/Q9UBB5 https://www.ncbi.nlm.nih.gov/omim/?term=603547 http://www.informatics.jax.org/searchtool/Search.do?query=MBD2&submit=Quick%0D%6902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD2 rs140691 0.36881 0 0 1 0 0 intronic intronic intronic MBD2 MBD2 ENSG00000134046 Na Na Na Na Na Na Het;G>A 565;22|21 Het;G>A 418;16|18 Hom;G>A 899;0|33 N N - 18 51889007 51889007 C T snp intronic C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs6508289 0.758187 0 0 1 0 0 intronic intronic intronic C18orf54 C18orf54 ENSG00000166845 Na Na Na Na Na Na Het;C>T 231;3|8 Ref Hom;C>T 271;0|8 N N - 18 51889056 51889056 A G snp intronic C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs6508290 0.760383 0 0 1 0 0 intronic intronic intronic C18orf54 C18orf54 ENSG00000166845 Na Na Na Na Na Na Het;A>G 318;8|13 Het;A>G 216;9|10 Hom;A>G 438;0|13 N N - 18 51904641 51904641 A G snp UTR3 *25A>G C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs3753056 0.760583 0.7418 0.7152 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*25A>G,NM_001288981:c.*25A>G,NM_173529:c.*25A>G,NM_001288982:c.*25A>G) C18orf54(uc002lfn.5:c.*25A>G,uc002lfo.5:c.*25A>G,uc031rih.1:c.*25A>G,uc031rii.1:c.*25A>G,uc031rij.1:c.*25A>G) ENSG00000166845(ENST00000578138:c.*25A>G,ENST00000300091:c.*25A>G,ENST00000382911:c.*25A>G,ENST00000579594:c.*25A>G) Na Na Na Na Na Na Het;A>G 1099;56|31 Het;A>G 1370;54|36 Hom;A>G 6095;0|136 N N - 18 51904644 51904644 G A snp UTR3 *28G>A C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs3753055 0.761781 0.7429 0.7153 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*28G>A,NM_001288981:c.*28G>A,NM_173529:c.*28G>A,NM_001288982:c.*28G>A) C18orf54(uc002lfn.5:c.*28G>A,uc002lfo.5:c.*28G>A,uc031rih.1:c.*28G>A,uc031rii.1:c.*28G>A,uc031rij.1:c.*28G>A) ENSG00000166845(ENST00000578138:c.*28G>A,ENST00000300091:c.*28G>A,ENST00000382911:c.*28G>A,ENST00000579594:c.*28G>A) Na Na Na Na Na Na Het;G>A 1099;58|31 Het;G>A 1358;58|39 Hom;G>A 6120;0|138 N N - 18 51904841 51904841 A G snp UTR3 *225A>G C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs3753054 0.760982 0 0 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*225A>G,NM_001288981:c.*225A>G,NM_173529:c.*225A>G,NM_001288982:c.*225A>G) C18orf54(uc002lfn.5:c.*225A>G,uc002lfo.5:c.*225A>G,uc031rih.1:c.*225A>G,uc031rii.1:c.*225A>G,uc031rij.1:c.*225A>G) ENSG00000166845(ENST00000300091:c.*225A>G,ENST00000382911:c.*225A>G) Na Na Na Na Na Na Het;A>G 2069;109|86 Het;A>G 2570;87|105 Hom;A>G 7365;1|268 N N - 18 51905202 51905202 T C snp UTR3 *586T>C C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs3753053 0.761781 0 0 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*586T>C,NM_001288981:c.*586T>C,NM_173529:c.*586T>C,NM_001288982:c.*586T>C) C18orf54(uc002lfn.5:c.*586T>C,uc002lfo.5:c.*586T>C,uc031rih.1:c.*586T>C,uc031rii.1:c.*586T>C,uc031rij.1:c.*586T>C) ENSG00000166845(ENST00000300091:c.*586T>C,ENST00000382911:c.*586T>C) Na Na Na Na Na Na Het;T>C 2091;107|95 Het;T>C 3017;152|143 Hom;T>C 7817;2|297 N N - 18 51905800 51905800 A G snp UTR3 *1184A>G C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs16958153 0.760783 0 0 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*1184A>G,NM_001288981:c.*1184A>G,NM_173529:c.*1184A>G,NM_001288982:c.*1184A>G) C18orf54(uc002lfn.5:c.*1184A>G,uc002lfo.5:c.*1184A>G,uc031rih.1:c.*1184A>G,uc031rii.1:c.*1184A>G,uc031rij.1:c.*1184A>G) ENSG00000166845(ENST00000300091:c.*1184A>G,ENST00000382911:c.*1184A>G) Na Na Na Na Na Na Het;A>G 1873;59|78 Het;A>G 1898;127|87 Hom;A>G 6464;3|232 N N - 18 51907137 51907137 T G snp UTR3 *2521T>G C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs1046699 0.760783 0 0 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*2521T>G,NM_001288981:c.*2521T>G,NM_173529:c.*2521T>G,NM_001288982:c.*2521T>G) C18orf54(uc002lfn.5:c.*2521T>G,uc002lfo.5:c.*2521T>G,uc031rih.1:c.*2521T>G,uc031rii.1:c.*2521T>G,uc031rij.1:c.*2521T>G) ENSG00000166845(ENST00000300091:c.*2521T>G) Na Na Na Na Na Na Het;T>G 1363;83|60 Het;T>G 2310;129|108 Hom;T>G 5835;0|212 N N - 18 51907706 51907707 GT G indel UTR3 *3090_*3091delinsG C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs34057877 0.760583 0 0 1 0 0 UTR3 UTR3 UTR3 C18orf54(NM_001288980:c.*3090_*3091delinsG,NM_001288981:c.*3090_*3091delinsG,NM_173529:c.*3090_*3091delinsG,NM_001288982:c.*3090_*3091delinsG) C18orf54(uc002lfn.5:c.*3090_*3091delinsG,uc002lfo.5:c.*3090_*3091delinsG,uc031rih.1:c.*3090_*3091delinsG,uc031rii.1:c.*3090_*3091delinsG,uc031rij.1:c.*3090_*3091delinsG) ENSG00000166845(ENST00000300091:c.*3090_*3091delinsG) Na Na Na Na Na Na Het;-T 2703;58|85 Het;-T 4031;132|131 Hom;-T 9462;0|254 N N - 18 51908403 51908403 C T snp UTR3 *3787C>T C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs1344883 0.760583 0 0 1 0 0 UTR3 UTR3 intronic C18orf54(NM_001288980:c.*3787C>T,NM_001288981:c.*3787C>T,NM_173529:c.*3787C>T,NM_001288982:c.*3787C>T) C18orf54(uc002lfn.5:c.*3787C>T,uc002lfo.5:c.*3787C>T,uc031rih.1:c.*3787C>T,uc031rii.1:c.*3787C>T,uc031rij.1:c.*3787C>T) ENSG00000166845 Na Na Na Na Na Na Het;C>T 987;40|28 Het;C>T 1214;33|33 Hom;C>T 2761;0|63 N N - 18 51908406 51908406 G A snp downstream C18orf54 4930503L19Rik ENSG00000166845 chromosome 18 open reading frame 54 chr18:51884287-51911588 Body Weights and Measures; Stroke; Neuropsychological Tests Variations (SNPs and in-frame insertions and deletions) in the coding region of the gene, observed between different strains, modify the sensitivity or resistance to induced lung adenomas. GO:0008285;negative regulation of cell proliferation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C18orf54 https://www.ncbi.nlm.nih.gov/omim/?term=613258 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf54&submit=Quick%0D%11881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf54 rs1344884 0.760583 0 0 1 0 0 downstream downstream intronic C18orf54 C18orf54 ENSG00000166845 Na Na Na Na Na Na Het;G>A 965;40|26 Het;G>A 1192;31|31 Hom;G>A 2737;0|61 N N - 18 52551716 52551716 C T snp intronic RAB27B Rab27b ENSG00000041353 RAB27B, member RAS oncogene family chr18:52385091-52562747 Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010] Tobacco Use Disorder Mice homozygous for one null allele exhibit impaired platelet aggregation. RAB GEFs exchange GTP for GDP on RABs GO:0002576;platelet degranulation;TAS|GO:0017157;regulation of exocytosis;IEA|GO:0032402;melanosome transport;IBA|GO:0045921;positive regulation of exocytosis;IMP|GO:0071985;multivesicular body sorting pathway;IMP|GO:0002576;platelet degranulation;TAS|GO:0017157;regulation of exocytosis;IEA|GO:0032402;melanosome transport;IBA|GO:0045921;positive regulation of exocytosis;IMP|GO:0071985;multivesicular body sorting pathway;IMP GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030140;trans-Golgi network transport vesicle;IDA|GO:0030141;secretory granule;IBA|GO:0030667;secretory granule membrane;IEA|GO:0031088;platelet dense granule membrane;TAS|GO:0032585;multivesicular body membrane;IDA|GO:0042470;melanosome;IDA|GO:0042589;zymogen granule membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0019904;protein domain specific binding;IPI|GO:0031489;myosin V binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB27B https://www.uniprot.org/uniprot/O00194 https://www.ncbi.nlm.nih.gov/omim/?term=603869 http://www.informatics.jax.org/searchtool/Search.do?query=RAB27B&submit=Quick%0D%70ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB27B rs3737477 0.252396 0.2398 0.2883 1 0 0 intronic intronic intronic RAB27B RAB27B ENSG00000041353 Na Na Na Na Na Na Het;C>T 640;48|33 Het;C>T 935;47|43 Hom;C>T 2653;6|102 N N - 18 55143766 55143766 C T snp synonymous SNV C1326T F442F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral ONECUT2 Onecut2 ENSG00000119547 one cut homeobox 2 chr18:55102917-55158529 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008] Electrocardiography; Body Weight; Eosinophils Homozygous mutation of this gene results in abnormal bile duct development. GO:0001889;liver development;IEA|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0002064;epithelial cell development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0030154;cell differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0031016;pancreas development;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;IEA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ONECUT2 https://www.uniprot.org/uniprot/O95948 https://www.ncbi.nlm.nih.gov/omim/?term=604894 http://www.informatics.jax.org/searchtool/Search.do?query=ONECUT2&submit=Quick%0D%5076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ONECUT2 rs3745074 0.392372 0.2858 0.2964 1 0 0 exonic exonic exonic ONECUT2 ONECUT2 ENSG00000119547 synonymous SNV synonymous SNV unknown ONECUT2:NM_004852:exon2:c.C1326T:p.F442F, ONECUT2:uc002lgo.3:exon2:c.C1326T:p.F442F, UNKNOWN Het;C>T 2098;101|94 Het;C>T 2308;89|98 Hom;C>T 5641;0|209 N N - 18 55144024 55144025 GA G indel UTR3 *69_*70delinsG ONECUT2 Onecut2 ENSG00000119547 one cut homeobox 2 chr18:55102917-55158529 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008] Electrocardiography; Body Weight; Eosinophils Homozygous mutation of this gene results in abnormal bile duct development. GO:0001889;liver development;IEA|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0002064;epithelial cell development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0030154;cell differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0031016;pancreas development;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;IEA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ONECUT2 https://www.uniprot.org/uniprot/O95948 https://www.ncbi.nlm.nih.gov/omim/?term=604894 http://www.informatics.jax.org/searchtool/Search.do?query=ONECUT2&submit=Quick%0D%5076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ONECUT2 rs3833204 0.391573 0 0 1 0 0 UTR3 UTR3 UTR3 ONECUT2(NM_004852:c.*69_*70delinsG) ONECUT2(uc002lgo.3:c.*69_*70delinsG) ENSG00000119547(ENST00000491143:c.*69_*70delinsG) Na Na Na Na Na Na Het;-A 687;35|22 Het;-A 730;20|20 Hom;-A 1442;1|36 N N - 18 55144035 55144035 C T snp UTR3 *80C>T ONECUT2 Onecut2 ENSG00000119547 one cut homeobox 2 chr18:55102917-55158529 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008] Electrocardiography; Body Weight; Eosinophils Homozygous mutation of this gene results in abnormal bile duct development. GO:0001889;liver development;IEA|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0002064;epithelial cell development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0030154;cell differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0031016;pancreas development;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;IEA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ONECUT2 https://www.uniprot.org/uniprot/O95948 https://www.ncbi.nlm.nih.gov/omim/?term=604894 http://www.informatics.jax.org/searchtool/Search.do?query=ONECUT2&submit=Quick%0D%5076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ONECUT2 rs3745072 0.391573 0 0 1 0 0 UTR3 UTR3 UTR3 ONECUT2(NM_004852:c.*80C>T) ONECUT2(uc002lgo.3:c.*80C>T) ENSG00000119547(ENST00000491143:c.*80C>T) Na Na Na Na Na Na Het;C>T 620;30|15 Het;C>T 755;19|20 Hom;C>T 1290;0|30 N N - 18 55144045 55144045 G A snp UTR3 *90G>A ONECUT2 Onecut2 ENSG00000119547 one cut homeobox 2 chr18:55102917-55158529 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008] Electrocardiography; Body Weight; Eosinophils Homozygous mutation of this gene results in abnormal bile duct development. GO:0001889;liver development;IEA|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0002064;epithelial cell development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0030154;cell differentiation;IBA|GO:0030335;positive regulation of cell migration;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0031016;pancreas development;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0045165;cell fate commitment;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;IEA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ONECUT2 https://www.uniprot.org/uniprot/O95948 https://www.ncbi.nlm.nih.gov/omim/?term=604894 http://www.informatics.jax.org/searchtool/Search.do?query=ONECUT2&submit=Quick%0D%5076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ONECUT2 rs3745071 0.391773 0 0 1 0 0 UTR3 UTR3 UTR3 ONECUT2(NM_004852:c.*90G>A) ONECUT2(uc002lgo.3:c.*90G>A) ENSG00000119547(ENST00000491143:c.*90G>A) Na Na Na Na Na Na Het;G>A 356;26|11 Het;G>A 557;15|14 Hom;G>A 962;0|20 N N - 18 55272968 55272968 C T snp intronic NARS Nars ENSG00000134440 asparaginyl-tRNA synthetase chr18:55267888-55289445 Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008] Body Height; Acquired Immunodeficiency Syndrome|Disease Progression Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006421;asparaginyl-tRNA aminoacylation;IEA GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004816;asparagine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NARS https://www.uniprot.org/uniprot/O43776 https://www.ncbi.nlm.nih.gov/omim/?term=108410 http://www.informatics.jax.org/searchtool/Search.do?query=NARS&submit=Quick%0D%6977ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NARS rs4940931 0.41853 0 0 1 0 0 intronic intronic intronic NARS NARS ENSG00000134440 Na Na Na Na Na Na Het;C>T 317;10|10 Het;C>T 176;4|6 Hom;C>T 328;0|10 N N - 18 55335412 55335412 A G snp ncRNA_exonic AC027097.1 rs317845 0.391174 0 0.3317 1 0 0 UTR3 UTR3 ncRNA_exonic LOC100505549(NM_001242804:c.*5A>G) LOC100505549(uc002lgu.2:c.*5A>G) ENSG00000267040 Na Na Na Na Na Na Het;A>G 1973;69|84 Het;A>G 1800;62|83 Hom;A>G 4308;4|162 N N - 18 55338656 55338656 G A snp ncRNA_intronic AC027097.1 rs317838 0.476438 0.3739 0.4226 1 0 0 intronic intronic ncRNA_intronic ATP8B1 ATP8B1 ENSG00000267040,ENSG00000267787 Na Na Na Na Na Na Het;G>A 1235;61|51 Het;G>A 645;41|29 Hom;G>A 2658;0|91 N N - 18 55358917 55358917 G A snp ncRNA_intronic AC027097.1 rs317809 0.431709 0 0 1 0 0 intronic intronic ncRNA_intronic ATP8B1 ATP8B1 ENSG00000267040,ENSG00000267787 Na Na Na Na Na Na Het;G>A 90;7|4 Het;G>A 184;3|6 Hom;G>A 243;0|7 N N - 18 55364830 55364830 G A snp ncRNA_intronic AC027097.1 rs319439 0.442093 0.4118 0.4763 1 0 0 intronic intronic ncRNA_intronic ATP8B1 ATP8B1 ENSG00000267040,ENSG00000267787 Na Na Na Na Na Na Het;G>A 1019;41|44 Het;G>A 669;31|34 Hom;G>A 1580;1|60 N N - 18 56817062 56817062 C T snp intronic SEC11C Sec11c ENSG00000166562 SEC11 homolog C, signal peptidase complex subunit chr18:56806709-56826068 Pancreatic Neoplasms Synthesis, secretion, and deacylation of Ghrelin GO:0006465;signal peptide processing;IBA|GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005787;signal peptidase complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC11C http://www.informatics.jax.org/searchtool/Search.do?query=SEC11C&submit=Quick%0D%11825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC11C rs4940844 0.32488 0 0 1 0 0 intronic intronic intronic SEC11C SEC11C ENSG00000166562 Na Na Na Na Na Na Het;C>T 76;1|3 Ref Hom;C>T 119;0|4 N N - 18 56819930 56819930 T C snp UTR3 *9T>C SEC11C Sec11c ENSG00000166562 SEC11 homolog C, signal peptidase complex subunit chr18:56806709-56826068 Pancreatic Neoplasms Synthesis, secretion, and deacylation of Ghrelin GO:0006465;signal peptide processing;IBA|GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005787;signal peptidase complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC11C http://www.informatics.jax.org/searchtool/Search.do?query=SEC11C&submit=Quick%0D%11825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC11C rs3760555 0.258187 0.2416 0.2654 1 0 0 intronic UTR3 intronic SEC11C SEC11C(uc010dpo.1:c.*9T>C) ENSG00000166562 Na Na Na Na Na Na Het;T>C 314;38|16 Het;T>C 560;23|25 Hom;T>C 1691;2|58 N N - 18 56826077 56826077 T C snp downstream SEC11C Sec11c ENSG00000166562 SEC11 homolog C, signal peptidase complex subunit chr18:56806709-56826068 Pancreatic Neoplasms Synthesis, secretion, and deacylation of Ghrelin GO:0006465;signal peptide processing;IBA|GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005787;signal peptidase complex;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC11C http://www.informatics.jax.org/searchtool/Search.do?query=SEC11C&submit=Quick%0D%11825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC11C rs2271731 0.317093 0 0 1 0 0 downstream downstream downstream SEC11C SEC11C ENSG00000166562 Na Na Na Na Na Na Het;T>C 148;7|5 Het;T>C 39;4|2 Hom;T>C 263;0|7 N N - 18 57147351 57147351 G A snp intronic CCBE1 Ccbe1 ENSG00000183287 collagen and calcium binding EGF domains 1 chr18:57098172-57364612 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] Alcoholism; Apolipoproteins B; Arteries; Insulin; Body Mass Index; Cell Adhesion Molecules; Tobacco Use Disorder; Cholesterol; Blood Pressure Determination; Rheumatoid Arthritis Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels. GO:0001525;angiogenesis;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;ISS|GO:0003016;respiratory system process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010595;positive regulation of endothelial cell migration;IEA|GO:0010954;positive regulation of protein processing;IDA|GO:0030324;lung development;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0048845;venous blood vessel morphogenesis;ISS|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IDA|GO:1901492;positive regulation of lymphangiogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA GO:0002020;protease binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCBE1 https://hpo.jax.org/app/browse/search?q=CCBE1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612753 http://www.informatics.jax.org/searchtool/Search.do?query=CCBE1&submit=Quick%0D%14957ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCBE1 rs1663548 0.721246 0 0 1 0 0 intronic intronic intronic CCBE1 CCBE1 ENSG00000183287 Na Na Na Na Na Na Het;G>A 547;9|24 Ref Hom;G>A 715;0|24 N N - 18 57147390 57147390 C G snp intronic CCBE1 Ccbe1 ENSG00000183287 collagen and calcium binding EGF domains 1 chr18:57098172-57364612 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] Alcoholism; Apolipoproteins B; Arteries; Insulin; Body Mass Index; Cell Adhesion Molecules; Tobacco Use Disorder; Cholesterol; Blood Pressure Determination; Rheumatoid Arthritis Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels. GO:0001525;angiogenesis;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;ISS|GO:0003016;respiratory system process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010595;positive regulation of endothelial cell migration;IEA|GO:0010954;positive regulation of protein processing;IDA|GO:0030324;lung development;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0048845;venous blood vessel morphogenesis;ISS|GO:1900748;positive regulation of vascular endothelial growth factor signaling pathway;IDA|GO:1901492;positive regulation of lymphangiogenesis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA GO:0002020;protease binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCBE1 https://hpo.jax.org/app/browse/search?q=CCBE1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612753 http://www.informatics.jax.org/searchtool/Search.do?query=CCBE1&submit=Quick%0D%14957ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCBE1 rs1790508 0.711661 0.6234 0.6399 1 0 0 intronic intronic intronic CCBE1 CCBE1 ENSG00000183287 Na Na Na Na Na Na Het;C>G 979;16|42 Ref Hom;C>G 1995;0|56 N N - 18 57596410 57596410 A C snp upstream AC107990.1 rs28688194 0.788139 0 0 1 0 0 intergenic intergenic upstream PMAIP1(dist=24872),MC4R(dist=442154) PMAIP1(dist=24872),U6(dist=89447) ENSG00000267066 Na Na Na Na Na Na Het;A>C 450;9|16 Het;A>C 277;20|13 Hom;A>C 851;0|32 N N - 18 59212511 59212512 AT A indel intronic CDH20 Cdh20 ENSG00000101542 cadherin 20 chr18:59000815-59223006 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Glucose; diabetic nephropathy GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH20 https://www.uniprot.org/uniprot/Q9HBT6 https://www.ncbi.nlm.nih.gov/omim/?term=605807 http://www.informatics.jax.org/searchtool/Search.do?query=CDH20&submit=Quick%0D%2757ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH20 rs5825448 0.704473 0 0 1 0 0 intronic intronic intronic CDH20 CDH20 ENSG00000101542 Na Na Na Na Na Na Het;-T 89;3|7 Het;-T 77;3|7 Hom;-T 164;0|9 N N - 18 60191428 60191428 G A snp synonymous SNV G771A E257E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ZCCHC2 Zcchc2 ENSG00000141664 zinc finger CCHC-type containing 2 chr18:60190240-60254942 Neuropsychological Tests; Mental Competency; Dehydroepiandrosterone; Heart Failure GO:0005737;cytoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC2 https://www.uniprot.org/uniprot/Q9C0B9 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC2&submit=Quick%0D%8210ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC2 rs7229802 0.707668 0.7449 0.7288 1 0 0 exonic exonic exonic ZCCHC2 ZCCHC2 ENSG00000141664 synonymous SNV synonymous SNV unknown ZCCHC2:NM_017742:exon1:c.G771A:p.E257E, ZCCHC2:uc002lip.4:exon1:c.G771A:p.E257E, UNKNOWN Het;G>A 1121;66|52 Het;G>A 1241;37|55 Hom;G>A 3214;0|114 N N - 18 60985879 60985879 T C snp synonymous SNV A21G T7T polar,hydrophilic,neutral polar,hydrophilic,neutral BCL2 Bcl2 ENSG00000171791 BCL2, apoptosis regulator chr18:60790579-60987361 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Lymphoma, Large B-Cell, Diffuse; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; pharmacogenetic studies; benzene haematotoxicity; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bone Mineral Density; Carcinoma, Squamous Cell|Esophageal Neoplasms; ovarian cancer; breast cancer; diabetes, type 1; esophageal cancer; Glucose; myeloid leukemia; leukemia/lymphoma, T-Cell; lung cancer ; chronic obstructive pulmonary disease/COPD lung function; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Chronic renal failure|Kidney Failure, Chronic; Echocardiography; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; systemic lupus erythematosus; breast and carcinoma; Hodgkin's disease; Leukemia, Lymphocytic, Chronic, B-Cell; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; null; Carcinoma, Squamous Cell|Neoplasm Recurrence, Local|Oropharyngeal Neoplasms; leukemia; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's|Translocation, Genetic; Brain Injuries; Neoplasm Recurrence, Local|Prostatic Neoplasms; Azoospermia; multiple sclerosis; non-Hodgkin's lymphoma; follicular lymphoma to diffuse large-cell lymphoma; follicular lymphoma; hematology indices; Tunica Media; Lymphoma, Non-Hodgkin; clubfoot; breast cancer ; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Lupus; Autism; esophageal adenocarcinoma; laryngeal cancer; Postoperative Complications|Prosthesis Failure; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Alzheimer Disease|Alzheimer's Disease|Amnesia; Carcinoma, Non-Small-Cell Lung; Acquired Immunodeficiency Syndrome|Disease Progression; Carcinoma, Renal Cell|Kidney Neoplasms; prostate cancer; Type 2 Diabetes| edema | rosiglitazone Homozygous null mutants show pleiotropic abnormalities including small size, increased postnatal mortality, polycystic kidneys, apoptotic involution of thymus and spleen, graying in the second hair follicle cycle, and reduced numbers of motor, sympathetic and sensory neurons. The NLRP1 inflammasome GO:0000209;protein polyubiquitination;IDA|GO:0000902;cell morphogenesis;IEA|GO:0001503;ossification;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001656;metanephros development;IEA|GO:0001657;ureteric bud development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001662;behavioral fear response;IEA|GO:0001776;leukocyte homeostasis;IEA|GO:0001782;B cell homeostasis;IEA|GO:0001822;kidney development;IEA|GO:0001836;release of cytochrome c from mitochondria;ISS|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0002260;lymphocyte homeostasis;IEA|GO:0002320;lymphoid progenitor cell differentiation;IEA|GO:0002326;B cell lineage commitment;IEA|GO:0002360;T cell lineage commitment;IEA|GO:0002520;immune system development;IEA|GO:0002931;response to ischemia;IEA|GO:0003014;renal system process;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006582;melanin metabolic process;IEA|GO:0006808;regulation of nitrogen utilization;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006915;apoptotic process;IDA|GO:0006959;humoral immune response;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0006979;response to oxidative stress;IEA|GO:0007015;actin filament organization;IEA|GO:0007409;axonogenesis;IEA|GO:0007565;female pregnancy;NAS|GO:0007569;cell aging;IEA|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0009314;response to radiation;NAS|GO:0009636;response to toxic substance;IDA|GO:0009791;post-embryonic development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010039;response to iron ion;IDA|GO:0010224;response to UV-B;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010506;regulation of autophagy;IEA|GO:0010507;negative regulation of autophagy;TAS|GO:0010523;negative regulation of calcium ion transport into cytosol;IEA|GO:0010559;regulation of glycoprotein biosynthetic process;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014042;positive regulation of neuron maturation;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016049;cell growth;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IEA|GO:0021747;cochlear nucleus development;IEA|GO:0022612;gland morphogenesis;IEA|GO:0022898;regulation of transmembrane transporter activity;IDA|GO:0030097;hemopoiesis;IEA|GO:0030183;B cell differentiation;IEA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0030308;negative regulation of cell growth;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0031069;hair follicle morphogenesis;IEA|GO:0031103;axon regeneration;IEA|GO:0031647;regulation of protein stability;IEA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;TAS|GO:0032835;glomerulus development;IEA|GO:0032848;negative regulation of cellular pH reduction;IDA|GO:0032880;regulation of protein localization;IEA|GO:0033033;negative regulation of myeloid cell apoptotic process;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0034097;response to cytokine;IDA|GO:0035094;response to nicotine;IDA|GO:0035265;organ growth;IEA|GO:0040007;growth;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042100;B cell proliferation;IDA|GO:0042149;cellular response to glucose starvation;IEA|GO:0042493;response to drug;IDA|GO:0042542;response to hydrogen peroxide;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043066;negative regulation of apoptotic process;IGI|GO:0043067;regulation of programmed cell death;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043375;CD8-positive, alpha-beta T cell lineage commitment;IEA|GO:0043473;pigmentation;IEA|GO:0043496;regulation of protein homodimerization activity;IDA|GO:0043497;regulation of protein heterodimerization activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IDA|GO:0043583;ear development;IEA|GO:0045069;regulation of viral genome replication;IEA|GO:0045636;positive regulation of melanocyte differentiation;IEA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0046671;negative regulation of retinal cell programmed cell death;IEA|GO:0046902;regulation of mitochondrial membrane permeability;ISS|GO:0048041;focal adhesion assembly;IEA|GO:0048066;developmental pigmentation;IEA|GO:0048070;regulation of developmental pigmentation;IEA|GO:0048087;positive regulation of developmental pigmentation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048545;response to steroid hormone;IEA|GO:0048546;digestive tract morphogenesis;IEA|GO:0048589;developmental growth;IEA|GO:0048599;oocyte development;IEA|GO:0048743;positive regulation of skeletal muscle fiber development;IEA|GO:0048753;pigment granule organization;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0050853;B cell receptor signaling pathway;IMP|GO:0051384;response to glucocorticoid;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0051607;defense response to virus;IDA|GO:0051726;regulation of cell cycle;IEA|GO:0051881;regulation of mitochondrial membrane potential;ISS|GO:0051902;negative regulation of mitochondrial depolarization;TAS|GO:0051924;regulation of calcium ion transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IDA|GO:0071310;cellular response to organic substance;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA|GO:2000811;negative regulation of anoikis;IMP|GO:2001234;negative regulation of apoptotic signaling pathway;IMP|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IGI|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IDA|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0031966;mitochondrial membrane;IEA|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IMP|GO:0046930;pore complex;IDA GO:0002020;protease binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0015267;channel activity;IDA|GO:0016248;channel inhibitor activity;IDA|GO:0019903;protein phosphatase binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0051434;BH3 domain binding;IPI|GO:0051721;protein phosphatase 2A binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCL2 https://hpo.jax.org/app/browse/search?q=BCL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=151430 http://www.informatics.jax.org/searchtool/Search.do?query=BCL2&submit=Quick%0D%13007ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2 rs1801018 0.243211 0.3104 0.3688 1 0 0 exonic exonic exonic BCL2 BCL2 ENSG00000171791 synonymous SNV synonymous SNV unknown BCL2:NM_000633:exon2:c.A21G:p.T7T,BCL2:NM_000657:exon2:c.A21G:p.T7T, BCL2:uc021ulf.1:exon1:c.A21G:p.T7T,BCL2:uc002lit.1:exon2:c.A21G:p.T7T,BCL2:uc002liv.1:exon2:c.A21G:p.T7T,BCL2:uc002liu.1:exon1:c.A21G:p.T7T, UNKNOWN Het;T>C 1205;75|59 Het;T>C 1533;66|76 Hom;T>C 3655;0|134 N N - 18 61022634 61022634 T C snp intronic KDSR Kdsr ENSG00000119537 3-ketodihydrosphingosine reductase chr18:60994959-61034743 The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008] pregnancy loss, recurrent; Calcium; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; benzene haematotoxicity; Chronic renal failure|Kidney Failure, Chronic; Cholesterol, HDL Sphingolipid de novo biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006666;3-keto-sphinganine metabolic process;IDA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005615;extracellular space;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;IEA|GO:0047560;3-dehydrosphinganine reductase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KDSR https://www.uniprot.org/uniprot/Q06136 https://hpo.jax.org/app/browse/search?q=KDSR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=136440 http://www.informatics.jax.org/searchtool/Search.do?query=KDSR&submit=Quick%0D%5074ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDSR rs1809319 0.578275 0 0 1 0 0 intronic intronic intronic KDSR KDSR ENSG00000119537 Na Na Na Na Na Na Het;T>C 975;27|31 Het;T>C 466;31|15 Hom;T>C 1392;0|39 N N - 18 61022791 61022791 C T snp synonymous SNV G261A V87V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KDSR Kdsr ENSG00000119537 3-ketodihydrosphingosine reductase chr18:60994959-61034743 The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008] pregnancy loss, recurrent; Calcium; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; benzene haematotoxicity; Chronic renal failure|Kidney Failure, Chronic; Cholesterol, HDL Sphingolipid de novo biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006666;3-keto-sphinganine metabolic process;IDA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005615;extracellular space;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;IEA|GO:0047560;3-dehydrosphinganine reductase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KDSR https://www.uniprot.org/uniprot/Q06136 https://hpo.jax.org/app/browse/search?q=KDSR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=136440 http://www.informatics.jax.org/searchtool/Search.do?query=KDSR&submit=Quick%0D%5074ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDSR rs2003149 0.556909 0.6019 0.6270 1 0 0 exonic exonic exonic KDSR KDSR ENSG00000119537 synonymous SNV synonymous SNV unknown KDSR:NM_002035:exon4:c.G261A:p.V87V, KDSR:uc010xem.2:exon4:c.G261A:p.V87V,KDSR:uc010dpw.3:exon4:c.G261A:p.V87V, UNKNOWN Het;C>T 1118;74|52 Het;C>T 1222;76|63 Hom;C>T 3602;6|142 N N - 18 62090071 62090071 A G snp ncRNA_intronic LOC284294 rs11877908 0.248403 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC284294 LOC284294 ENSG00000267134 Na Na Na Na Na Na Het;A>G 591;21|22 Ref Hom;A>G 1710;0|57 N N - 18 63489378 63489378 C T snp synonymous SNV C687T V229V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDH7 Cdh7 ENSG00000081138 cadherin 7 chr18:63417488-63548638 This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016] Body Height; Uric Acid; Cholesterol, HDL; Arteries; Triglycerides; Vitamin D; Tobacco Use Disorder; Pulse Adherens junctions interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0034332;adherens junction organization;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH7 https://www.uniprot.org/uniprot/Q9ULB5 https://www.ncbi.nlm.nih.gov/omim/?term=605806 http://www.informatics.jax.org/searchtool/Search.do?query=CDH7&submit=Quick%0D%1760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH7 rs8097752 0.852835 0.8608 0.9245 1 0 0 exonic exonic exonic CDH7 CDH7 ENSG00000081138 synonymous SNV synonymous SNV unknown CDH7:NM_004361:exon5:c.C687T:p.V229V,CDH7:NM_033646:exon5:c.C687T:p.V229V, CDH7:uc002lka.3:exon5:c.C687T:p.V229V,CDH7:uc002lkb.3:exon5:c.C687T:p.V229V,CDH7:uc002ljz.3:exon5:c.C687T:p.V229V, UNKNOWN Het;C>T 909;19|36 Het;C>T 1302;48|62 Hom;C>T 2888;0|106 N N - 18 63736374 63736374 A G snp ncRNA_exonic PRPF19P1 rs2706618 0.748003 0 0 1 0 0 intergenic intergenic ncRNA_exonic CDH7(dist=188199),CDH19(dist=432050) CDH7(dist=188199),CDH19(dist=432050) ENSG00000264685 Na Na Na Na Na Na Het;A>G 35;8|4 Ref Hom;A>G 114;0|5 N N - 18 67365668 67365668 A G snp synonymous SNV A438G T146T polar,hydrophilic,neutral polar,hydrophilic,neutral DOK6 Dok6 ENSG00000206052 docking protein 6 chr18:67068291-67516323 DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008] Echocardiography; Osteoporosis; Arteries; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Platelet Count; Mental Competency; Cholesterol RET signaling GO:0007411;axon guidance;TAS GO:0005829;cytosol;TAS GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOK6 https://www.ncbi.nlm.nih.gov/omim/?term=611402 http://www.informatics.jax.org/searchtool/Search.do?query=DOK6&submit=Quick%0D%17596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK6 rs4426448 0.485024 0.4592 0.4675 1 0 0 exonic exonic exonic DOK6 DOK6 ENSG00000206052 synonymous SNV synonymous SNV unknown DOK6:NM_152721:exon5:c.A438G:p.T146T, DOK6:uc002lkl.3:exon5:c.A438G:p.T146T, UNKNOWN Het;A>G 835;43|36 Het;A>G 695;43|35 Hom;A>G 2240;0|81 N N - 18 67365926 67365926 A G snp intronic DOK6 Dok6 ENSG00000206052 docking protein 6 chr18:67068291-67516323 DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008] Echocardiography; Osteoporosis; Arteries; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Platelet Count; Mental Competency; Cholesterol RET signaling GO:0007411;axon guidance;TAS GO:0005829;cytosol;TAS GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOK6 https://www.ncbi.nlm.nih.gov/omim/?term=611402 http://www.informatics.jax.org/searchtool/Search.do?query=DOK6&submit=Quick%0D%17596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK6 rs12605879 0.490615 0 0 1 0 0 intronic intronic intronic DOK6 DOK6 ENSG00000206052 Na Na Na Na Na Na Het;A>G 317;13|12 Het;A>G 392;5|16 Hom;A>G 766;0|22 N N - 18 68003721 68003721 C A snp unknown LINC01909 rs2279370 0.380391 0 0.6667 1 0 0 ncRNA_exonic intergenic exonic LOC101927481 SOCS6(dist=6287),Metazoa_SRP(dist=176242) ENSG00000266258 Na Na unknown Na Na UNKNOWN Het;C>A 454;20|21 Het;C>A 259;15|14 Hom;C>A 1506;0|59 N N - 18 68868016 68868016 A C snp intergenic GTSCR1 rs72952956 0.091254 0 0 1 0 0 intergenic intergenic intergenic GTSCR1(dist=549923),LINC01541(dist=319184) Metazoa_SRP(dist=687772),LOC100505776(dist=319184) ENSG00000265639(dist=167724),ENSG00000265484(dist=15924) Na Na Na Na Na Na Het;A>C 2063;102|91 Het;A>C 1629;95|78 Hom;A>C 6053;1|225 N N - 18 68893520 68893520 T C snp ncRNA_exonic AC091691.1 rs8097444 0.819089 0 0 1 0 0 intergenic intergenic ncRNA_exonic GTSCR1(dist=575427),LINC01541(dist=293680) Metazoa_SRP(dist=713276),LOC100505776(dist=293680) ENSG00000263733 Na Na Na Na Na Na Het;T>C 703;31|30 Het;T>C 526;36|29 Hom;T>C 1648;0|59 N N - 18 69018071 69018071 T C snp intergenic GTSCR1 rs9947008 0.14397 0 0 1 0 0 intergenic intergenic intergenic GTSCR1(dist=699978),LINC01541(dist=169129) Metazoa_SRP(dist=837827),LOC100505776(dist=169129) ENSG00000265484(dist=113733),ENSG00000260676(dist=169127) Na Na Na Na Na Na Het;T>C 761;18|34 Het;T>C 650;22|30 Hom;T>C 1749;0|67 N N - 18 69118069 69118069 G C snp intergenic GTSCR1 rs624324 0.599641 0 0 1 0 0 intergenic intergenic intergenic GTSCR1(dist=799976),LINC01541(dist=69131) Metazoa_SRP(dist=937825),LOC100505776(dist=69131) ENSG00000265484(dist=213731),ENSG00000260676(dist=69129) Na Na Na Na Na Na Het;G>C 642;40|31 Het;G>C 658;38|34 Hom;G>C 2369;0|88 N N - 18 69118106 69118106 C T snp intergenic GTSCR1 rs12606392 0.573882 0 0 1 0 0 intergenic intergenic intergenic GTSCR1(dist=800013),LINC01541(dist=69094) Metazoa_SRP(dist=937862),LOC100505776(dist=69094) ENSG00000265484(dist=213768),ENSG00000260676(dist=69092) Na Na Na Na Na Na Het;C>T 330;33|17 Het;C>T 456;18|21 Hom;C>T 1351;0|50 N N - 18 69215698 69215698 C A snp ncRNA_intronic LOC100505776 rs11151672 0.185104 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01541 LOC100505776 ENSG00000260676 Na Na Na Na Na Na Het;C>A 320;8|11 Het;C>A 185;3|7 Hom;C>A 283;0|8 N N - 18 69400177 69400177 C G snp ncRNA_intronic LOC102724913 rs8095299 0.284345 0 0 1 0 0 ncRNA_intronic intergenic intergenic LOC102724913 LOC100505776(dist=153985),CBLN2(dist=803738) NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;C>G 172;11|7 Het;C>G 193;6|7 Hom;C>G 258;0|8 N N - 18 69401880 69401880 A G snp ncRNA_intronic LOC102724913 rs7227772 0.570088 0 0 1 0 0 ncRNA_intronic intergenic intergenic LOC102724913 LOC100505776(dist=155688),CBLN2(dist=802035) NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;A>G 493;28|21 Het;A>G 445;36|22 Hom;A>G 1621;0|60 N N - 18 69499280 69499280 T C snp intergenic LOC102724913 rs2657766 0.840655 0 0 1 0 0 intergenic intergenic intergenic LOC102724913(dist=49818),CBLN2(dist=704635) LOC100505776(dist=253088),CBLN2(dist=704635) ENSG00000265352(dist=49763),ENSG00000260457(dist=4995) Na Na Na Na Na Na Het;T>C 264;7|9 Het;T>C 82;1|3 Hom;T>C 290;0|10 N N - 18 6956393 6956393 T C snp ncRNA_exonic LOC101927188 rs11875257 0.261981 0 0.3494 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic LOC101927188 LAMA1(uc002knk.3:c.-845A>G) ENSG00000265069 Na Na Na Na Na Na Het;T>C 2682;105|119 Het;T>C 1942;90|94 Hom;T>C 4519;0|166 N N - 18 70208898 70208898 G T snp intronic CBLN2 Cbln2 ENSG00000141668 cerebellin 2 precursor chr18:70203915-70305756 multiple sclerosis (severity) No overt anatomical or neuroanatomical defects are observed in mice homozygous for deletion of this gene. GO:0051965;positive regulation of synapse assembly;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/CBLN2 https://www.uniprot.org/uniprot/Q8IUK8 https://www.ncbi.nlm.nih.gov/omim/?term=600433 http://www.informatics.jax.org/searchtool/Search.do?query=CBLN2&submit=Quick%0D%8212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBLN2 rs1223504 0.583666 0 0 1 0 0 intronic intronic intronic CBLN2 CBLN2 ENSG00000141668 Na Na Na Na Na Na Het;G>T 331;6|11 Ref Hom;G>T 151;0|5 N N - 18 70209321 70209321 C A snp synonymous SNV G75T P25P hydrophobic,neutral hydrophobic,neutral CBLN2 Cbln2 ENSG00000141668 cerebellin 2 precursor chr18:70203915-70305756 multiple sclerosis (severity) No overt anatomical or neuroanatomical defects are observed in mice homozygous for deletion of this gene. GO:0051965;positive regulation of synapse assembly;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/CBLN2 https://www.uniprot.org/uniprot/Q8IUK8 https://www.ncbi.nlm.nih.gov/omim/?term=600433 http://www.informatics.jax.org/searchtool/Search.do?query=CBLN2&submit=Quick%0D%8212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBLN2 rs7237888 0.563099 0.7586 0.8421 1 0 0 exonic exonic exonic CBLN2 CBLN2 ENSG00000141668 synonymous SNV synonymous SNV unknown CBLN2:NM_182511:exon3:c.G75T:p.P25P, CBLN2:uc002lkv.2:exon3:c.G75T:p.P25P,CBLN2:uc002lku.2:exon2:c.G75T:p.P25P, UNKNOWN Het;C>A 474;28|17 Het;C>A 650;13|24 Hom;C>A 1325;0|49 N N - 18 7042402 7042402 A G snp UTR5 -4661T>C LAMA1 Lama1 ENSG00000101680 laminin subunit alpha 1 chr18:6941743-7117813 This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane. MET activates PTK2 signaling GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0045995;regulation of embryonic development;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005606;laminin-1 complex;IDA|GO:0005608;laminin-3 complex;IPI|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA GO:0005102;receptor binding;IEA|GO:0005201;extracellular matrix structural constituent;ISS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAMA1 https://www.uniprot.org/uniprot/P25391 https://hpo.jax.org/app/browse/search?q=LAMA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150320 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA1&submit=Quick%0D%2773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA1 rs648161 0.558307 0 0 1 0 0 intronic UTR5 intronic LAMA1 LAMA1(uc010wzj.2:c.-4661T>C) ENSG00000101680 Na Na Na Na Na Na Het;A>G 222;8|8 Het;A>G 91;12|4 Hom;A>G 603;0|18 N N - 18 70535622 70535622 C G snp upstream NETO1 Neto1 ENSG00000166342 neuropilin and tolloid like 1 chr18:70409549-70535381 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit depressed long term potentiation, reduced NMDAR excitatory postsynaptic potentiation, and decreased spartial learning and working memory. GO:0007613;memory;ISS|GO:0008542;visual learning;ISS|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;ISS|GO:0097120;receptor localization to synapse;IEA|GO:2000312;regulation of kainate selective glutamate receptor activity;IDA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS|GO:0098839;postsynaptic density membrane;ISS GO:0035255;ionotropic glutamate receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NETO1 https://www.ncbi.nlm.nih.gov/omim/?term=607973 http://www.informatics.jax.org/searchtool/Search.do?query=NETO1&submit=Quick%0D%11764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NETO1 rs72970510 0.181909 0 0 1 0 0 upstream upstream upstream NETO1 NETO1 ENSG00000166342,ENSG00000263958 Na Na Na Na Na Na Het;C>G 986;35|47 Het;C>G 776;36|37 Hom;C>G 1947;0|73 N N - 18 71317241 71317241 G A snp intergenic LOC100505817 rs17830332 0.217452 0 0 1 0 0 intergenic intergenic intergenic LOC100505817(dist=300117),FBXO15(dist=423347) LOC100505817(dist=300117),FBXO15(dist=423347) ENSG00000261780(dist=300128),ENSG00000265380(dist=61323) Na Na Na Na Na Na Het;G>A 451;13|19 Het;G>A 316;23|17 Hom;G>A 859;0|33 N N - 18 7167566 7167566 T G snp intergenic LAMA1 Lama1 ENSG00000101680 laminin subunit alpha 1 chr18:6941743-7117813 This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane. MET activates PTK2 signaling GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0045995;regulation of embryonic development;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005606;laminin-1 complex;IDA|GO:0005608;laminin-3 complex;IPI|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA GO:0005102;receptor binding;IEA|GO:0005201;extracellular matrix structural constituent;ISS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAMA1 https://www.uniprot.org/uniprot/P25391 https://hpo.jax.org/app/browse/search?q=LAMA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150320 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA1&submit=Quick%0D%2773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA1 rs60836093 0.320687 0 0 1 0 0 intergenic intergenic intergenic LAMA1(dist=49753),LRRC30(dist=63571) LAMA1(dist=49753),LRRC30(dist=63571) ENSG00000263716(dist=31748),ENSG00000206422(dist=63557) Na Na Na Na Na Na Het;T>G 134;2|4 Ref Hom;T>G 197;0|5 N N - 18 7167580 7167592 AATAAATAAATAG A indel intergenic LAMA1 Lama1 ENSG00000101680 laminin subunit alpha 1 chr18:6941743-7117813 This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane. MET activates PTK2 signaling GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0045995;regulation of embryonic development;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005606;laminin-1 complex;IDA|GO:0005608;laminin-3 complex;IPI|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA GO:0005102;receptor binding;IEA|GO:0005201;extracellular matrix structural constituent;ISS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAMA1 https://www.uniprot.org/uniprot/P25391 https://hpo.jax.org/app/browse/search?q=LAMA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150320 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA1&submit=Quick%0D%2773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA1 rs57010665 0.370807 0 0 1 0 0 intergenic intergenic intergenic LAMA1(dist=49767),LRRC30(dist=63545) LAMA1(dist=49767),LRRC30(dist=63545) ENSG00000263716(dist=31762),ENSG00000206422(dist=63531) Na Na Na Na Na Na Het;-ATAAATAAATAG 119;4|4 Ref Hom;-ATAAATAAATAG 260;0|7 N N - 18 7167723 7167723 G A snp intergenic LAMA1 Lama1 ENSG00000101680 laminin subunit alpha 1 chr18:6941743-7117813 This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane. MET activates PTK2 signaling GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;ISS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0045995;regulation of embryonic development;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005606;laminin-1 complex;IDA|GO:0005608;laminin-3 complex;IPI|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA GO:0005102;receptor binding;IEA|GO:0005201;extracellular matrix structural constituent;ISS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAMA1 https://www.uniprot.org/uniprot/P25391 https://hpo.jax.org/app/browse/search?q=LAMA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150320 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA1&submit=Quick%0D%2773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA1 rs524645 0.309305 0 0 1 0 0 intergenic intergenic intergenic LAMA1(dist=49910),LRRC30(dist=63414) LAMA1(dist=49910),LRRC30(dist=63414) ENSG00000263716(dist=31905),ENSG00000206422(dist=63400) Na Na Na Na Na Na Het;G>A 687;15|33 Het;G>A 618;25|28 Hom;G>A 1464;0|57 N N - 18 71873216 71873216 G A snp intergenic TIMM21 Timm21 ENSG00000075336 translocase of inner mitochondrial membrane 21 chr18:71815746-71826197 Macular Degeneration; Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial protein import GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IMP|GO:0032981;mitochondrial respiratory chain complex I assembly;IMP|GO:0033617;mitochondrial respiratory chain complex IV assembly;IMP GO:0005739;mitochondrion;IEA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TIMM21 https://www.uniprot.org/uniprot/Q9BVV7 https://www.ncbi.nlm.nih.gov/omim/?term=615180 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM21&submit=Quick%0D%1540ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM21 rs1790855 0.403155 0 0 1 0 0 intergenic intergenic intergenic TIMM21(dist=47012),CYB5A(dist=47311) TIMM21(dist=47012),CYB5A(dist=47311) ENSG00000075336(dist=47019),ENSG00000260569(dist=5410) Na Na Na Na Na Na Het;G>A 221;4|12 Ref Hom;G>A 148;0|6 N N - 18 72186404 72186404 G A snp intronic CNDP2 Cndp2 ENSG00000133313 carnosine dipeptidase 2 chr18:72163051-72188366 CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008] diabetes, type 1 ; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Kidney Failure, Chronic Glutathione synthesis and recycling GO:0006508;proteolysis;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0008152;metabolic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0102008;cytosolic dipeptidase activity;IEA|GO:0103046;alanylglutamate dipeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNDP2 https://www.uniprot.org/uniprot/Q96KP4 https://www.ncbi.nlm.nih.gov/omim/?term=169800 http://www.informatics.jax.org/searchtool/Search.do?query=CNDP2&submit=Quick%0D%6824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNDP2 rs2241508 0.596446 0 0 1 0 0 intronic intronic intronic CNDP2 CNDP2 ENSG00000133313 Na Na Na Na Na Na Het;G>A 730;33|33 Het;G>A 842;17|42 Hom;G>A 1572;0|66 N N - 18 72226455 72226455 A T snp ncRNA_exonic BC047599 rs12605490 0.758387 0 0 1 0 0 intronic ncRNA_exonic intronic CNDP1 BC047599 ENSG00000150656 Na Na Na Na Na Na Het;A>T 271;16|10 Het;A>T 411;20|18 Hom;A>T 589;0|16 N N - 18 72226504 72226504 C T snp ncRNA_exonic BC047599 rs12605520 0.311302 0 0 1 0 0 intronic ncRNA_exonic intronic CNDP1 BC047599 ENSG00000150656 Na Na Na Na Na Na Het;C>T 571;37|27 Het;C>T 743;37|37 Hom;C>T 1920;0|64 N N - 18 72226539 72226539 T C snp ncRNA_exonic BC047599 rs12607796 0.757188 0.7293 0.7963 1 0 0 intronic ncRNA_exonic intronic CNDP1 BC047599 ENSG00000150656 Na Na Na Na Na Na Het;T>C 726;52|35 Het;T>C 1057;51|54 Hom;T>C 2854;0|107 N N - 18 72228419 72228419 G C snp intronic CNDP1 Cndp1 ENSG00000150656 carnosine dipeptidase 1 chr18:72201675-72254448 This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008] Cadaver|Diabetic Nephropathies|Diabetic Nephropathy; atherosclerosis, coronary longevity; nephropathy in other diseases; Renal Insufficiency; Diabetic Nephropathies|Diabetic Nephropathy; diabetes, type 2 kidney failure, chronic; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Amyotrophic Lateral Sclerosis; Liver Cirrhosis; Tobacco Use Disorder; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; Chronic renal failure|Kidney Failure, Chronic; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Kidney Failure, Chronic; diabetes, type 1 ; Socioeconomic Factors GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0032268;regulation of cellular protein metabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005829;cytosol;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNDP1 https://www.uniprot.org/uniprot/Q96KN2 https://www.ncbi.nlm.nih.gov/omim/?term=609064 http://www.informatics.jax.org/searchtool/Search.do?query=CNDP1&submit=Quick%0D%9337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNDP1 rs2881289 0.329872 0 0 1 0 0 intronic intronic intronic CNDP1 CNDP1 ENSG00000150656 Na Na Na Na Na Na Het;G>C 208;3|7 Het;G>C 165;3|6 Hom;G>C 187;0|6 N N - 18 72593197 72593197 G A snp intronic ZNF407 Zfp407 ENSG00000215421 zinc finger protein 407 chr18:72265106-72777627 This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Body Mass Index; Body Weight; diabetic nephropathy; Tobacco Use Disorder; Waist Circumference; Body Height Mice homozygous for a knock-out allele exhibit failure of blastocyst formation and complete embryonic lethality before implantation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF407 https://www.ncbi.nlm.nih.gov/omim/?term=615894 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF407&submit=Quick%0D%18336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF407 rs12953433 0.366214 0 0 1 0 0 intronic intronic intronic ZNF407 ZNF407 ENSG00000215421 Na Na Na Na Na Na Het;G>A 466;12|14 Het;G>A 197;12|7 Hom;G>A 714;0|18 N N - 18 72776121 72776121 G A snp synonymous SNV G6444A T2148T polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF407 Zfp407 ENSG00000215421 zinc finger protein 407 chr18:72265106-72777627 This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Body Mass Index; Body Weight; diabetic nephropathy; Tobacco Use Disorder; Waist Circumference; Body Height Mice homozygous for a knock-out allele exhibit failure of blastocyst formation and complete embryonic lethality before implantation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF407 https://www.ncbi.nlm.nih.gov/omim/?term=615894 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF407&submit=Quick%0D%18336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF407 rs3744913 0.760383 0.7615 0.8322 1 0 0 exonic exonic exonic ZNF407 ZNF407 ENSG00000215421 synonymous SNV synonymous SNV unknown ZNF407:NM_017757:exon8:c.G6444A:p.T2148T, ZNF407:uc002llw.2:exon8:c.G6444A:p.T2148T, UNKNOWN Het;G>A 3890;177|175 Het;G>A 2821;146|128 Hom;G>A 7431;2|277 N N - 18 74082584 74082584 G A snp intronic ZNF516 Zfp516 ENSG00000101493 zinc finger protein 516 chr18:74069644-74207146 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012] Blood Pressure Determination; Heart Rate; Longevity GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0009409;response to cold;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0050873;brown fat cell differentiation;IEA|GO:0060612;adipose tissue development;IEA GO:0005634;nucleus;IEA GO:0000987;core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0033613;activating transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF516 https://www.uniprot.org/uniprot/Q92618 https://www.ncbi.nlm.nih.gov/omim/?term=615114 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF516&submit=Quick%0D%2756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF516 rs9676093 0.166733 0.2200 0.2635 1 0 0 intronic intronic intronic ZNF516 ZNF516 ENSG00000101493 Na Na Na Na Na Na Het;G>A 1068;47|51 Het;G>A 979;39|44 Hom;G>A 2926;0|108 N N - 18 74082655 74082655 G C snp intronic ZNF516 Zfp516 ENSG00000101493 zinc finger protein 516 chr18:74069644-74207146 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012] Blood Pressure Determination; Heart Rate; Longevity GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0009409;response to cold;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0050873;brown fat cell differentiation;IEA|GO:0060612;adipose tissue development;IEA GO:0005634;nucleus;IEA GO:0000987;core promoter proximal region sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0033613;activating transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF516 https://www.uniprot.org/uniprot/Q92618 https://www.ncbi.nlm.nih.gov/omim/?term=615114 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF516&submit=Quick%0D%2756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF516 rs690035 0.239617 0 0 1 0 0 intronic intronic intronic ZNF516 ZNF516 ENSG00000101493 Na Na Na Na Na Na Het;G>C 345;15|13 Het;G>C 139;9|5 Hom;G>C 592;0|17 N N - 18 74270044 74270044 T G snp ncRNA_exonic LINC00908 rs8093215 0.598642 0 0.6154 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC00908 LINC00908 ENSG00000263812(ENST00000578613:c.*23T>G,ENST00000578092:c.*23T>G) Na Na Na Na Na Na Het;T>G 1102;65|45 Het;T>G 1095;55|49 Hom;T>G 2373;0|81 N N - 18 74270561 74270561 G C snp ncRNA_exonic LINC00908 rs8092210 0.8748 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC00908 LINC00908 ENSG00000263812(ENST00000578613:c.*540G>C) Na Na Na Na Na Na Het;G>C 35;7|2 Het;G>C 86;3|4 Hom;G>C 148;0|3 N N - 18 74332209 74332209 C G snp ncRNA_exonic LINC00683 rs4996312 0.777955 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00683 LINC00908(dist=60425),FLJ44881(dist=69777) ENSG00000266256 Na Na Na Na Na Na Het;C>G 2093;111|92 Het;C>G 2019;91|89 Hom;C>G 5011;0|184 N N - 18 76398093 76398093 A C snp intergenic LINC01029 rs2667080 0.649161 0 0 1 0 0 intergenic intergenic intergenic LINC01029(dist=692410),SALL3(dist=342182) GALR1(dist=1415997),SALL3(dist=342182) ENSG00000201723(dist=93905),ENSG00000266273(dist=157519) Na Na Na Na Na Na Het;A>C 155;23|10 Het;A>C 150;14|10 Hom;A>C 678;0|25 N N - 18 76398143 76398143 G C snp intergenic LINC01029 rs2667081 0 0 0 1 0 0 intergenic intergenic intergenic LINC01029(dist=692460),SALL3(dist=342132) GALR1(dist=1416047),SALL3(dist=342132) ENSG00000201723(dist=93955),ENSG00000266273(dist=157469) Na Na Na Na Na Na Het;G>C 274;24|16 Het;G>C 338;22|18 Hom;G>C 1066;0|41 N N - 18 76684386 76684386 A G snp downstream AC091027.1 rs3933778 0.414736 0 0 1 0 0 intergenic intergenic downstream LINC01029(dist=978703),SALL3(dist=55889) GALR1(dist=1702290),SALL3(dist=55889) ENSG00000265101 Na Na Na Na Na Na Het;A>G 126;13|7 Het;A>G 219;14|11 Hom;A>G 709;0|26 N N - 18 76937175 76937175 G C snp intronic ATP9B Atp9b ENSG00000282266 ATPase phospholipid transporting 9B (putative) chr18:76829285-77138283 http://www.genecards.org/index.php?path=/Search/keyword/ATP9B https://www.ncbi.nlm.nih.gov/omim/?term=614446 http://www.informatics.jax.org/searchtool/Search.do?query=ATP9B&submit=Quick%0D%22455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9B rs4074543 0.64357 0 0 1 0 0 intronic intronic intronic ATP9B ATP9B ENSG00000166377 Na Na Na Na Na Na Het;G>C 33;7|3 Ref Hom;G>C 120;0|6 N N - 18 77156458 77156458 A G snp intronic NFATC1 Nfatc1 ENSG00000131196 nuclear factor of activated T-cells 1 chr18:77155856-77289325 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; Eosinophils; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Bone Mineral Density; heart anomalies, congenital; Body Fat Distribution Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. CLEC7A (Dectin-1) induces NFAT activation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0030178;negative regulation of Wnt signaling pathway;ISS|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0001225;RNA polymerase II transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0005515;protein binding;IPI|GO:0005528;FK506 binding;TAS|GO:0048273;mitogen-activated protein kinase p38 binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NFATC1 https://www.uniprot.org/uniprot/O95644 https://www.ncbi.nlm.nih.gov/omim/?term=600489 http://www.informatics.jax.org/searchtool/Search.do?query=NFATC1&submit=Quick%0D%6514ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC1 rs8097032 0.909145 0 0 1 0 0 intronic intronic intronic NFATC1 NFATC1 ENSG00000131196 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 368;0|8 N N - 18 77160256 77160256 G GGGGGGC indel intronic NFATC1 Nfatc1 ENSG00000131196 nuclear factor of activated T-cells 1 chr18:77155856-77289325 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; Eosinophils; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Bone Mineral Density; heart anomalies, congenital; Body Fat Distribution Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. CLEC7A (Dectin-1) induces NFAT activation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0030178;negative regulation of Wnt signaling pathway;ISS|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0001225;RNA polymerase II transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0005515;protein binding;IPI|GO:0005528;FK506 binding;TAS|GO:0048273;mitogen-activated protein kinase p38 binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NFATC1 https://www.uniprot.org/uniprot/O95644 https://www.ncbi.nlm.nih.gov/omim/?term=600489 http://www.informatics.jax.org/searchtool/Search.do?query=NFATC1&submit=Quick%0D%6514ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC1 rs537843771 0.0119808 0 0 1 0 0 intronic intronic intronic NFATC1 NFATC1 ENSG00000131196 Na Na Na Na Na Na Het;+GGGGGC 32;5|2 Ref Hom;+GGGGGC 208;0|6 N N - 18 77160601 77160601 C A snp intronic NFATC1 Nfatc1 ENSG00000131196 nuclear factor of activated T-cells 1 chr18:77155856-77289325 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; Eosinophils; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Bone Mineral Density; heart anomalies, congenital; Body Fat Distribution Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. CLEC7A (Dectin-1) induces NFAT activation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0030178;negative regulation of Wnt signaling pathway;ISS|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0001225;RNA polymerase II transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0005515;protein binding;IPI|GO:0005528;FK506 binding;TAS|GO:0048273;mitogen-activated protein kinase p38 binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NFATC1 https://www.uniprot.org/uniprot/O95644 https://www.ncbi.nlm.nih.gov/omim/?term=600489 http://www.informatics.jax.org/searchtool/Search.do?query=NFATC1&submit=Quick%0D%6514ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC1 rs62096871 0.950679 0 0 1 0 0 intronic intronic intronic NFATC1 NFATC1 ENSG00000131196 Na Na Na Na Na Na Het;C>A 75;3|3 Ref Hom;C>A 132;0|4 N N - 18 77663896 77663896 A G snp UTR3 *80T>C PQLC1 Pqlc1 ENSG00000122490 PQ loop repeat containing 1 chr18:77662420-77711664 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PQLC1 https://www.uniprot.org/uniprot/Q8N2U9 http://www.informatics.jax.org/searchtool/Search.do?query=PQLC1&submit=Quick%0D%5418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC1 rs13745 0.764577 0 0 1 0 0 UTR3 UTR3 UTR3 PQLC1(NM_025078:c.*80T>C,NM_001146345:c.*80T>C,NM_001146343:c.*226T>C) PQLC1(uc010dre.2:c.*80T>C,uc002lnl.2:c.*80T>C,uc002lnk.2:c.*80T>C,uc010xfm.1:c.*226T>C) ENSG00000122490(ENST00000397778:c.*80T>C,ENST00000357575:c.*80T>C,ENST00000409073:c.*80T>C,ENST00000351365:c.*715T>C,ENST00000474967:c.*558T>C,ENST00000590381:c.*226T>C) Na Na Na Na Na Na Het;A>G 31;3|2 Het;A>G 108;3|5 Hom;A>G 297;0|10 N N - 18 77728135 77728135 G T snp nonsynonymous SNV G165T K55N polar,hydrophilic,charged(+) polar,hydrophilic,neutral HSBP1L1 Hsbp1l1 ENSG00000226742 heat shock factor binding protein 1 like 1 chr18:77724561-77730822 GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0003714;transcription corepressor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSBP1L1 http://www.informatics.jax.org/searchtool/Search.do?query=HSBP1L1&submit=Quick%0D%18710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSBP1L1 rs2298645 0.798522 0.7681 0.8227 0.10 1 10 exonic exonic exonic HSBP1L1 HSBP1L1 ENSG00000226742 nonsynonymous SNV nonsynonymous SNV unknown HSBP1L1:NM_001136180:exon3:c.G165T:p.K55N, HSBP1L1:uc002lno.4:exon3:c.G165T:p.K55N, UNKNOWN Het;G>T 963;70|46 Het;G>T 442;60|26 Hom;G>T 2186;0|83 N N - 18 77730585 77730586 CT C indel UTR3 *134_*135delinsC HSBP1L1 Hsbp1l1 ENSG00000226742 heat shock factor binding protein 1 like 1 chr18:77724561-77730822 GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0003714;transcription corepressor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSBP1L1 http://www.informatics.jax.org/searchtool/Search.do?query=HSBP1L1&submit=Quick%0D%18710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSBP1L1 rs34938590 0.789337 0 0 1 0 0 UTR3 UTR3 UTR3 HSBP1L1(NM_001136180:c.*134_*135delinsC) HSBP1L1(uc002lno.4:c.*134_*135delinsC) ENSG00000226742(ENST00000451882:c.*134_*135delinsC,ENST00000589516:c.*406_*407delinsC) Na Na Na Na Na Na Het;-T 232;5|8 Het;-T 36;12|3 Hom;-T 486;0|14 N N - 18 77736735 77736735 T C snp UTR3 *34A>G TXNL4A Txnl4a ENSG00000141759 thioredoxin like 4A chr18:77732867-77793949 The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] BURN-MCKEOWN SYNDROME mRNA Splicing - Minor Pathway GO:0000245;spliceosomal complex assembly;TAS|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TXNL4A https://www.uniprot.org/uniprot/P83876 https://hpo.jax.org/app/browse/search?q=TXNL4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611595 http://www.informatics.jax.org/searchtool/Search.do?query=TXNL4A&submit=Quick%0D%8224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNL4A rs4799116 0.784545 0 0.8400 1 0 0 intronic UTR3 UTR3 TXNL4A TXNL4A(uc002lnr.3:c.*34A>G) ENSG00000141759(ENST00000355491:c.*34A>G,ENST00000585769:c.*294A>G) Na Na Na Na Na Na Het;T>C 133;17|9 Het;T>C 32;9|4 Hom;T>C 880;0|34 N N - 18 77746623 77746623 T C snp synonymous SNV A15G R5R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TXNL4A Txnl4a ENSG00000141759 thioredoxin like 4A chr18:77732867-77793949 The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] BURN-MCKEOWN SYNDROME mRNA Splicing - Minor Pathway GO:0000245;spliceosomal complex assembly;TAS|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TXNL4A https://www.uniprot.org/uniprot/P83876 https://hpo.jax.org/app/browse/search?q=TXNL4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611595 http://www.informatics.jax.org/searchtool/Search.do?query=TXNL4A&submit=Quick%0D%8224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNL4A rs8086024 0.797125 0 0 1 0 0 exonic intronic UTR3 TXNL4A TXNL4A ENSG00000141759(ENST00000585769:c.*116A>G,ENST00000586825:c.*116A>G) synonymous SNV Na Na TXNL4A:NM_001303471:exon2:c.A15G:p.R5R, Na Na Het;T>C 717;47|35 Het;T>C 1074;42|46 Hom;T>C 1960;0|63 N N - 18 77748525 77748525 A C snp UTR5 -133T>G TXNL4A Txnl4a ENSG00000141759 thioredoxin like 4A chr18:77732867-77793949 The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] BURN-MCKEOWN SYNDROME mRNA Splicing - Minor Pathway GO:0000245;spliceosomal complex assembly;TAS|GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TXNL4A https://www.uniprot.org/uniprot/P83876 https://hpo.jax.org/app/browse/search?q=TXNL4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611595 http://www.informatics.jax.org/searchtool/Search.do?query=TXNL4A&submit=Quick%0D%8224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNL4A rs1077511 0.798123 0 0 1 0 0 UTR5 UTR5 UTR5 TXNL4A(NM_006701:c.-133T>G,NM_001303471:c.-1888T>G) TXNL4A(uc002lnp.3:c.-133T>G,uc002lnr.3:c.-133T>G) ENSG00000141759(ENST00000269601:c.-133T>G,ENST00000588162:c.-133T>G,ENST00000355491:c.-133T>G,ENST00000585769:c.-133T>G,ENST00000591711:c.-133T>G,ENST00000586295:c.-133T>G) Na Na Na Na Na Na Het;A>C 357;35|19 Het;A>C 653;33|32 Hom;A>C 1478;0|55 N N - 18 77797321 77797321 C T snp intronic RBFA Rbfa ENSG00000101546 ribosome binding factor A (putative) chr18:77794358-77806397 GO:0006364;rRNA processing;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005739;mitochondrion;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBFA https://www.uniprot.org/uniprot/Q8N0V3 http://www.informatics.jax.org/searchtool/Search.do?query=RBFA&submit=Quick%0D%2759ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBFA rs748337 0.783147 0.7373 0.8123 1 0 0 intronic intronic intronic RBFA RBFA ENSG00000101546,ENSG00000267127 Na Na Na Na Na Na Het;C>T 807;24|30 Het;C>T 495;41|26 Hom;C>T 1464;0|53 N N - 18 77827314 77827314 T C snp ncRNA_intronic RBFADN rs9304059 0.557109 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic RBFADN RBFADN ENSG00000261126 Na Na Na Na Na Na Het;T>C 394;23|20 Het;T>C 175;20|8 Hom;T>C 587;0|22 N N - 18 77838970 77838970 C G snp ncRNA_exonic RBFADN rs551643 0.867612 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RBFADN RBFADN ENSG00000261126 Na Na Na Na Na Na Het;C>G 2217;156|103 Het;C>G 1916;120|86 Hom;C>G 6862;0|243 N N - 18 77839092 77839092 C T snp ncRNA_exonic RBFADN rs552631 0.466254 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RBFADN RBFADN ENSG00000261126 Na Na Na Na Na Na Het;C>T 1250;90|57 Het;C>T 1010;77|51 Hom;C>T 3261;2|115 N N - 18 77839202 77839207 ATTTTG A indel ncRNA_exonic RBFADN rs57112379 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic RBFADN RBFADN ENSG00000261126 Na Na Na Na Na Na Het;-TTTTG 375;17|11 Het;-TTTTG 780;9|21 Hom;-TTTTG 1524;2|37 N N - 18 9887394 9887394 C T snp synonymous SNV C717T A239A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TXNDC2 Txndc2 ENSG00000168454 thioredoxin domain containing 2 chr18:9885763-9889272 Sptrx open reading frame encodes for a protein of 486 amino acids composed of two clear domains. Sleep; Echocardiography; Phosphorus Homozygous mutation of this gene displays normal reproductive system phenotype while results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge. GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:0006662;glycerol ether metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0001520;outer dense fiber;IEA|GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA GO:0004791;thioredoxin-disulfide reductase activity;IDA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IBA|GO:0047134;protein-disulfide reductase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TXNDC2 https://www.uniprot.org/uniprot/Q86VQ3 http://www.informatics.jax.org/searchtool/Search.do?query=TXNDC2&submit=Quick%0D%210ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNDC2 rs2240910 0.518371 0.4583 0.5149 1 0 0 exonic exonic exonic TXNDC2 TXNDC2 ENSG00000168454 synonymous SNV synonymous SNV unknown TXNDC2:NM_032243:exon2:c.C717T:p.A239A,TXNDC2:NM_001098529:exon2:c.C918T:p.A306A, TXNDC2:uc021ugx.1:exon1:c.C717T:p.A239A,TXNDC2:uc002koh.4:exon2:c.C717T:p.A239A,TXNDC2:uc002koi.4:exon2:c.C918T:p.A306A, UNKNOWN Het;C>T 45;2|3 Ref Hom;C>T 107;0|5 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10102255 10102255 G A snp intronic COL5A3 Col5a3 ENSG00000080573 collagen type V alpha 3 chain chr19:10070237-10121147 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. Collagen chain trimerization GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL5A3 https://www.uniprot.org/uniprot/P25940 https://www.ncbi.nlm.nih.gov/omim/?term=120216 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3 rs75444636 0.0113818 0.0228 0.0399 1 0 0 intronic intronic intronic COL5A3 COL5A3 ENSG00000080573 Na Na Na Na Na Na Het;G>A 296;11|13 Het;G>A 404;26|20 Hom;G>A 387;0|15 N N - 19 1011215 1011215 G A snp intronic TMEM259 Tmem259 ENSG00000182087 transmembrane protein 259 chr19:1009647-1021117 Mice homozygous for a knock-out allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. GO:0034976;response to endoplasmic reticulum stress;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1904294;positive regulation of ERAD pathway;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM259 https://www.ncbi.nlm.nih.gov/omim/?term=611011 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM259&submit=Quick%0D%14714ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM259 rs2240160 0.275759 0.2098 0.3072 1 0 0 intronic intronic intronic TMEM259 TMEM259 ENSG00000182087 Na Na Na Na Na Na Het;G>A 806;42|38 Het;G>A 608;22|26 Hom;G>A 2000;0|72 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10112688 10112688 A G snp intronic COL5A3 Col5a3 ENSG00000080573 collagen type V alpha 3 chain chr19:10070237-10121147 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. Collagen chain trimerization GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL5A3 https://www.uniprot.org/uniprot/P25940 https://www.ncbi.nlm.nih.gov/omim/?term=120216 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3 rs2287802 0.383586 0 0 1 0 0 intronic intronic intronic COL5A3 COL5A3 ENSG00000080573 Na Na Na Na Na Na Het;A>G 190;4|7 Het;A>G 71;4|3 Hom;A>G 394;0|12 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10114893 10114893 C T snp intronic COL5A3 Col5a3 ENSG00000080573 collagen type V alpha 3 chain chr19:10070237-10121147 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. Collagen chain trimerization GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL5A3 https://www.uniprot.org/uniprot/P25940 https://www.ncbi.nlm.nih.gov/omim/?term=120216 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3 rs73007122 0.114417 0 0 1 0 0 intronic intronic intronic COL5A3 COL5A3 ENSG00000080573 Na Na Na Na Na Na Het;C>T 328;14|15 Het;C>T 184;14|9 Hom;C>T 515;0|17 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10149131 10149131 G T snp downstream MIR5589 rs17210660 0.246206 0 0.4690 1 0 0 downstream intergenic ncRNA_intronic MIR5589 RDH8(dist=16177),C3P1(dist=2901) ENSG00000167798 Na Na Na Na Na Na Het;G>T 1052;55|50 Het;G>T 447;51|25 Hom;G>T 2102;2|83 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10149207 10149207 G A snp downstream MIR5589 rs57198581 0.270966 0 0 1 0 0 downstream intergenic ncRNA_intronic MIR5589 RDH8(dist=16253),C3P1(dist=2825) ENSG00000167798 Na Na Na Na Na Na Het;G>A 491;17|19 Het;G>A 141;19|7 Hom;G>A 667;0|23 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10155856 10155856 G A snp ncRNA_intronic C3P1 rs73506916 0.26278 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;G>A 249;18|11 Het;G>A 394;15|20 Hom;G>A 746;0|26 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10160578 10160578 C T snp ncRNA_intronic C3P1 rs11085554 0.266374 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;C>T 733;21|26 Het;C>T 470;24|20 Hom;C>T 919;0|26 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10165844 10165844 G A snp ncRNA_intronic C3P1 rs60321046 0.271565 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;G>A 491;6|13 Het;G>A 103;12|4 Hom;G>A 782;0|18 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10165854 10165854 T C snp ncRNA_intronic C3P1 rs56717463 0.273163 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;T>C 571;8|16 Het;T>C 168;12|6 Hom;T>C 980;0|26 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10166114 10166114 A G snp ncRNA_intronic C3P1 rs10426597 0.272165 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;A>G 302;9|10 Het;A>G 156;14|6 Hom;A>G 419;0|12 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10166233 10166233 C T snp ncRNA_intronic C3P1 rs10405132 0.273163 0.3159 0.3168 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;C>T 1055;21|26 Het;C>T 914;21|24 Hom;C>T 1800;0|39 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10166243 10166243 G T snp ncRNA_intronic C3P1 rs10403535 0.273163 0.3145 0.3163 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;G>T 1227;25|32 Het;G>T 979;26|25 Hom;G>T 2116;0|46 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10166253 10166253 T C snp ncRNA_intronic C3P1 rs10411594 0.273163 0.3146 0.3161 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;T>C 1351;26|37 Het;T>C 1076;30|30 Hom;T>C 2224;0|53 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10169245 10169245 A G snp ncRNA_exonic C3P1 rs1993466 0.268371 0.3041 0.3009 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;A>G 192;46|14 Het;A>G 470;36|21 Hom;A>G 1025;0|35 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10169261 10169261 C T snp ncRNA_exonic C3P1 rs11667703 0.268371 0.3039 0.3010 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;C>T 347;51|20 Het;C>T 611;36|29 Hom;C>T 1302;0|46 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10169278 10169278 T G snp ncRNA_exonic C3P1 rs4552116 0.268371 0.3039 0.3009 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic C3P1 C3P1 ENSG00000167798 Na Na Na Na Na Na Het;T>G 306;60|20 Het;T>G 692;39|33 Hom;T>G 1763;0|64 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10218434 10218434 C T snp intronic PPAN Ppan ENSG00000130810 peter pan homolog (Drosophila) chr19:10216965-10225414 The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010] GO:0000027;ribosomal large subunit assembly;IBA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0030687;preribosome, large subunit precursor;IBA GO:0003723;RNA binding;IDA|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPAN https://www.uniprot.org/uniprot/Q9NQ55 https://www.ncbi.nlm.nih.gov/omim/?term=607793 http://www.informatics.jax.org/searchtool/Search.do?query=PPAN&submit=Quick%0D%6448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAN rs55752217 0.364816 0.3728 0.4173 1 0 0 intronic intronic intronic PPAN,PPAN-P2RY11 PPAN,PPAN-P2RY11 ENSG00000130810,ENSG00000243207 Na Na Na Na Na Na Het;C>T 1683;95|73 Het;C>T 1546;63|65 Hom;C>T 3799;0|132 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10218524 10218524 C G snp synonymous SNV C336G V112V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PPAN Ppan ENSG00000130810 peter pan homolog (Drosophila) chr19:10216965-10225414 The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010] GO:0000027;ribosomal large subunit assembly;IBA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0030687;preribosome, large subunit precursor;IBA GO:0003723;RNA binding;IDA|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPAN https://www.uniprot.org/uniprot/Q9NQ55 https://www.ncbi.nlm.nih.gov/omim/?term=607793 http://www.informatics.jax.org/searchtool/Search.do?query=PPAN&submit=Quick%0D%6448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAN rs2305791 0.269768 0.2515 0.3225 1 0 0 exonic exonic exonic PPAN,PPAN-P2RY11 PPAN,PPAN-P2RY11 ENSG00000130810,ENSG00000243207 synonymous SNV synonymous SNV unknown PPAN:NM_020230:exon4:c.C336G:p.V112V,PPAN-P2RY11:NM_001040664:exon4:c.C336G:p.V112V,PPAN-P2RY11:NM_001198690:exon4:c.C336G:p.V112V, PPAN-P2RY11:uc002mna.3:exon4:c.C336G:p.V112V,PPAN:uc002mmz.2:exon4:c.C336G:p.V112V,PPAN-P2RY11:uc010xla.2:exon4:c.C336G:p.V112V, UNKNOWN Het;C>G 1672;96|68 Het;C>G 1577;47|62 Hom;C>G 3329;0|118 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10221151 10221151 C G snp intronic PPAN Ppan ENSG00000130810 peter pan homolog (Drosophila) chr19:10216965-10225414 The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010] GO:0000027;ribosomal large subunit assembly;IBA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0030687;preribosome, large subunit precursor;IBA GO:0003723;RNA binding;IDA|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPAN https://www.uniprot.org/uniprot/Q9NQ55 https://www.ncbi.nlm.nih.gov/omim/?term=607793 http://www.informatics.jax.org/searchtool/Search.do?query=PPAN&submit=Quick%0D%6448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAN rs2305792 0.360823 0.3737 0.4179 1 0 0 intronic intronic intronic PPAN,PPAN-P2RY11 PPAN,PPAN-P2RY11 ENSG00000130810,ENSG00000243207 Na Na Na Na Na Na Het;C>G 2824;134|115 Het;C>G 2390;96|104 Hom;C>G 5582;2|202 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10224526 10224526 C T snp nonsynonymous SNV C1559T P520L hydrophobic,neutral aliphatic,hydrophobic,neutral P2RY11 ENSG00000244165 purinergic receptor P2Y11 chr19:10222214-10226048 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008] Narcolepsy; myocardial infarct G alpha (s) signalling events GO:0001973;adenosine receptor signaling pathway;IEA|GO:0006952;defense response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0019722;calcium-mediated signaling;IDA|GO:0023041;neuronal signal transduction;IDA|GO:0035589;G-protein coupled purinergic nucleotide receptor signaling pathway;IEA|GO:0071318;cellular response to ATP;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0030594;neurotransmitter receptor activity;IDA|GO:0045028;G-protein coupled purinergic nucleotide receptor activity;IEA|GO:0045031;ATP-activated adenosine receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/P2RY11 https://hpo.jax.org/app/browse/search?q=P2RY11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602697 http://www.informatics.jax.org/searchtool/Search.do?query=P2RY11&submit=Quick%0D%19832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RY11 rs3745600 0.365415 0.3739 0.4194 0.18 2 11 exonic exonic exonic P2RY11,PPAN-P2RY11 P2RY11,PPAN-P2RY11 ENSG00000130810,ENSG00000243207,ENSG00000244165 nonsynonymous SNV nonsynonymous SNV unknown PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L, PPAN-P2RY11:uc010xla.2:exon13:c.C1559T:p.P520L, UNKNOWN Het;C>T 3182;98|128 Het;C>T 1925;94|85 Hom;C>T 5332;2|188 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10225777 10225777 A G snp UTR3 *13T>C EIF3G Eif3g ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G rs7401 0.367812 0.3755 0.4192 1 0 0 UTR3 UTR3 UTR3 EIF3G(NM_003755:c.*13T>C),P2RY11(NM_002566:c.*363A>G),PPAN-P2RY11(NM_001198690:c.*1247A>G,NM_001040664:c.*363A>G) EIF3G(uc002mnd.3:c.*13T>C),P2RY11(uc002mnc.3:c.*363A>G),PPAN-P2RY11(uc010xla.2:c.*1247A>G,uc002mna.3:c.*363A>G) ENSG00000130811(ENST00000253108:c.*13T>C,ENST00000593054:c.*13T>C),ENSG00000244165(ENST00000321826:c.*363A>G) Na Na Na Na Na Na Het;A>G 1863;83|85 Het;A>G 1661;85|83 Hom;A>G 4106;0|160 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10226256 10226256 A G snp synonymous SNV T846C F282F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral EIF3G Eif3g ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G rs7710 0.453874 0.4376 0.4457 1 0 0 exonic exonic exonic EIF3G EIF3G ENSG00000130811 synonymous SNV synonymous SNV unknown EIF3G:NM_003755:exon10:c.T846C:p.F282F, EIF3G:uc002mnd.3:exon10:c.T846C:p.F282F, UNKNOWN Het;A>G 2389;113|104 Het;A>G 1157;81|55 Hom;A>G 4058;1|147 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10226340 10226344 GTGCC G indel intronic EIF3G Eif3g ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G rs150759321 0 0.3710 0.4156 1 0 0 intronic intronic intronic EIF3G EIF3G ENSG00000130811 Na Na Na Na Na Na Het;-TGCC 3594;176|161 Het;-TGCC 4170;141|112 Hom;-TGCC 8107;3|291 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10229297 10229297 C A snp nonsynonymous SNV G347T R116L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral EIF3G Eif3g ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G rs11667630 0.377196 0.3838 0.4197 1 0 0 intronic exonic intronic EIF3G EIF3G ENSG00000130811 Na nonsynonymous SNV Na Na EIF3G:uc010dxa.3:exon5:c.G347T:p.R116L, Na Het;C>A 480;22|21 Het;C>A 149;12|9 Hom;C>A 1064;0|39 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10229521 10229521 C T snp intronic EIF3G Eif3g ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G rs2290687 0.398163 0.4001 0.4264 1 0 0 intronic intronic intronic EIF3G EIF3G ENSG00000130811 Na Na Na Na Na Na Het;C>T 329;17|15 Ref Hom;C>T 726;0|30 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10229726 10229747 TGGCAGTCCTCACTCACCTCCC T indel unknown EIF3G Eif3g ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G rs149991692 0.327476 0.2696 0.3603 1 0 0 intronic UTR3 exonic EIF3G EIF3G(uc010xlb.2:c.*206_*185delinsA) ENSG00000130811 Na Na unknown Na Na UNKNOWN Het;-GGCAGTCCTCACTCACCTCCC 704;24|21 Het;-GGCAGTCCTCACTCACCTCCC 448;21|21 Hom;-GGCAGTCCTCACTCACCTCCC 1049;0|24 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10251747 10251747 A G snp intronic DNMT1 Dnmt1 ENSG00000130816 DNA methyltransferase 1 chr19:10244021-10341962 This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] subtelomeric hypomethylation; arsnic exposure; colorectal cancer; hunger and satiety; Stomach Neoplasms; benzo[a]pyrene diol epoxide; breast cancer ; epithelial ovarian cancer ; Spinal Dysraphism; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; lupus erythematosus Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IEA|GO:0005721;pericentric heterochromatin;IEA GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IEA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DNMT1 https://www.uniprot.org/uniprot/P26358 https://hpo.jax.org/app/browse/search?q=DNMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126375 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT1&submit=Quick%0D%142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT1 rs2290684 0.471645 0.5089 0.4838 1 0 0 intronic intronic intronic DNMT1 DNMT1 ENSG00000130816 Na Na Na Na Na Na Het;A>G 318;26|13 Het;A>G 552;19|21 Hom;A>G 1413;0|46 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10253099 10253099 T G snp intronic DNMT1 Dnmt1 ENSG00000130816 DNA methyltransferase 1 chr19:10244021-10341962 This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] subtelomeric hypomethylation; arsnic exposure; colorectal cancer; hunger and satiety; Stomach Neoplasms; benzo[a]pyrene diol epoxide; breast cancer ; epithelial ovarian cancer ; Spinal Dysraphism; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; lupus erythematosus Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IEA|GO:0005721;pericentric heterochromatin;IEA GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IEA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DNMT1 https://www.uniprot.org/uniprot/P26358 https://hpo.jax.org/app/browse/search?q=DNMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126375 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT1&submit=Quick%0D%142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT1 rs8112801 0.470048 0 0 1 0 0 intronic intronic intronic DNMT1 DNMT1 ENSG00000130816 Na Na Na Na Na Na Het;T>G 211;3|8 Het;T>G 82;1|3 Hom;T>G 107;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10421385 10421385 G C snp intronic FDX1L Fdx1l rs281418 0.204473 0 0 1 0 0 intronic intronic intronic FDX1L FDX1L ENSG00000167807,ENSG00000267673 Na Na Na Na Na Na Het;G>C 410;16|20 Het;G>C 175;3|8 Hom;G>C 893;0|30 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10426659 10426659 A C snp nonsynonymous SNV T14G M5R hydrophobic,neutral polar,hydrophilic,charged(+) FDX1L Fdx1l rs201763046 0 0 1.823e-05 0.42 5 12 exonic exonic exonic FDX1L FDX1L ENSG00000167807,ENSG00000267673 nonsynonymous SNV nonsynonymous SNV unknown FDX1L:NM_001031734:exon1:c.T23G:p.M8R, FDX1L:uc002mny.1:exon1:c.T14G:p.M5R, UNKNOWN Het;A>C 1663;53|67 Het;A>C 1402;59|62 Hom;A>C 3011;0|114 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10431799 10431799 G T snp synonymous SNV C1449A P483P hydrophobic,neutral hydrophobic,neutral RAVER1 Raver1 ENSG00000161847 ribonucleoprotein, PTB binding 1 chr19:10426888-10444316 Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit reduced long term potentiation and depression. GO:0000398;mRNA splicing, via spliceosome;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAVER1 https://www.ncbi.nlm.nih.gov/omim/?term=609950 http://www.informatics.jax.org/searchtool/Search.do?query=RAVER1&submit=Quick%0D%10612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAVER1 rs281425 0.214257 0.1823 0.3412 1 0 0 exonic exonic exonic RAVER1 RAVER1 ENSG00000161847 synonymous SNV synonymous SNV unknown RAVER1:NM_133452:exon8:c.C1449A:p.P483P, RAVER1:uc002moa.3:exon8:c.C1449A:p.P483P, UNKNOWN Het;G>T 1360;53|61 Het;G>T 803;40|38 Hom;G>T 2335;0|82 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10446568 10446568 T C snp nonsynonymous SNV A428G D143G polar,hydrophilic,charged(-) aliphatic,neutral ICAM3 ENSG00000076662 intercellular adhesion molecule 3 chr19:10444452-10450499 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. CD209 (DC-SIGN) signaling GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ICAM3 https://www.uniprot.org/uniprot/P32942 https://www.ncbi.nlm.nih.gov/omim/?term=146631 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3 rs2304237 0.179513 0.2018 0.2700 0.15 2 13 exonic exonic exonic ICAM3 ICAM3 ENSG00000076662 nonsynonymous SNV nonsynonymous SNV unknown ICAM3:NM_002162:exon3:c.A428G:p.D143G, ICAM3:uc002mob.2:exon3:c.A428G:p.D143G,ICAM3:uc010xlf.1:exon3:c.A197G:p.D66G,ICAM3:uc010dxd.1:exon3:c.A197G:p.D66G, UNKNOWN Het;T>C 702;54|33 Het;T>C 1151;54|47 Hom;T>C 1512;2|57 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10449252 10449252 T C snp intronic ICAM3 ENSG00000076662 intercellular adhesion molecule 3 chr19:10444452-10450499 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. CD209 (DC-SIGN) signaling GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ICAM3 https://www.uniprot.org/uniprot/P32942 https://www.ncbi.nlm.nih.gov/omim/?term=146631 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3 rs7257871 0.179313 0 0 1 0 0 intronic intronic intronic ICAM3 ICAM3 ENSG00000076662 Na Na Na Na Na Na Het;T>C 419;9|14 Het;T>C 253;5|8 Hom;T>C 499;0|14 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10449358 10449358 T C snp nonsynonymous SNV A343G R115G polar,hydrophilic,charged(+) aliphatic,neutral ICAM3 ENSG00000076662 intercellular adhesion molecule 3 chr19:10444452-10450499 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. CD209 (DC-SIGN) signaling GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ICAM3 https://www.uniprot.org/uniprot/P32942 https://www.ncbi.nlm.nih.gov/omim/?term=146631 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3 rs7258015 0.178914 0.2085 0.2188 0.08 1 13 exonic exonic exonic ICAM3 ICAM3 ENSG00000076662 nonsynonymous SNV nonsynonymous SNV unknown ICAM3:NM_002162:exon2:c.A343G:p.R115G, ICAM3:uc002mob.2:exon2:c.A343G:p.R115G,ICAM3:uc010xlf.1:exon2:c.A112G:p.R38G,ICAM3:uc010dxd.1:exon2:c.A112G:p.R38G, UNKNOWN Het;T>C 999;81|48 Het;T>C 1324;60|59 Hom;T>C 2841;0|99 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10449665 10449665 C T snp UTR5 -196G>A ICAM3 ENSG00000076662 intercellular adhesion molecule 3 chr19:10444452-10450499 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. CD209 (DC-SIGN) signaling GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ICAM3 https://www.uniprot.org/uniprot/P32942 https://www.ncbi.nlm.nih.gov/omim/?term=146631 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3 rs3176768 0.179313 0.2079 0.2233 1 0 0 intronic UTR5 UTR5 ICAM3 ICAM3(uc010dxd.1:c.-196G>A) ENSG00000076662(ENST00000589261:c.-196G>A,ENST00000589580:c.-196G>A) Na Na Na Na Na Na Het;C>T 339;21|16 Het;C>T 390;17|18 Hom;C>T 1083;0|38 N N - 19 1047161 1047161 A G snp synonymous SNV A1851G G617G aliphatic,neutral aliphatic,neutral ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3752237 0.695288 0.6241 0.6784 1 0 0 exonic exonic exonic ABCA7 ABCA7 ENSG00000064687 synonymous SNV synonymous SNV unknown ABCA7:NM_019112:exon15:c.A1851G:p.G617G, ABCA7:uc002lqw.4:exon15:c.A1851G:p.G617G,ABCA7:uc010dsb.1:exon9:c.A1437G:p.G479G, UNKNOWN Het;A>G 814;27|32 Ref Hom;A>G 993;0|32 N N - 19 1049012 1049012 A C snp intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs4147912 0.819688 0.7755 0.8030 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;A>C 1317;55|54 Ref Hom;A>C 2888;3|112 N N - 19 1050874 1050874 A G snp intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs12151021 0.63099 0.6539 0.6893 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;A>G 917;30|39 Ref Hom;A>G 1317;0|46 N N - 19 1051751 1051751 A G snp intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3764651 0.509984 0 0 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;A>G 96;4|4 Ref Hom;A>G 83;0|3 N N - 19 1052005 1052005 C T snp synonymous SNV C3027T A1009A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3764652 0.379393 0.4015 0.4256 1 0 0 exonic exonic exonic ABCA7 ABCA7 ENSG00000064687 synonymous SNV synonymous SNV unknown ABCA7:NM_019112:exon22:c.C3027T:p.A1009A, ABCA7:uc002lqw.4:exon22:c.C3027T:p.A1009A,ABCA7:uc010dsb.1:exon16:c.C2613T:p.A871A, UNKNOWN Het;C>T 1900;80|86 Ref Hom;C>T 2638;1|96 N N - 19 1053299 1053299 C T snp intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3829687 0.476837 0.4650 0.4679 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;C>T 550;34|24 Ref Hom;C>T 1221;0|45 N N - 19 1053677 1053677 G A snp intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3752242 0.382388 0 0 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;G>A 543;18|18 Ref Hom;G>A 593;0|20 N N - 19 1054060 1054060 A G snp synonymous SNV A3528G L1176L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3752243 0.536142 0.5264 0.4723 1 0 0 exonic exonic exonic ABCA7 ABCA7 ENSG00000064687 synonymous SNV synonymous SNV unknown ABCA7:NM_019112:exon26:c.A3528G:p.L1176L, ABCA7:uc002lqw.4:exon26:c.A3528G:p.L1176L,ABCA7:uc010dsb.1:exon20:c.A3114G:p.L1038L, UNKNOWN Het;A>G 2049;99|85 Ref Hom;A>G 3362;1|113 N N - 19 1055191 1055191 G A snp nonsynonymous SNV G4046A R1349Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3745842 0.390575 0.4065 0.4433 0.25 3 12 exonic exonic exonic ABCA7 ABCA7 ENSG00000064687 nonsynonymous SNV nonsynonymous SNV unknown ABCA7:NM_019112:exon30:c.G4046A:p.R1349Q, ABCA7:uc002lqw.4:exon30:c.G4046A:p.R1349Q,ABCA7:uc010dsb.1:exon24:c.G3632A:p.R1211Q, UNKNOWN Het;G>A 454;17|19 Ref Hom;G>A 2262;0|80 N N - 19 1056018 1056019 GC G indel intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs3833881 0.535743 0.5330 0.4789 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;-C 670;27|28 Ref Hom;-C 1177;0|39 N N - 19 1056065 1056065 A G snp synonymous SNV A4239G R1413R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs881768 0.442093 0.4594 0.4451 1 0 0 exonic exonic exonic ABCA7 ABCA7 ENSG00000064687 synonymous SNV synonymous SNV unknown ABCA7:NM_019112:exon32:c.A4239G:p.R1413R, ABCA7:uc002lqw.4:exon32:c.A4239G:p.R1413R, UNKNOWN Het;A>G 754;49|32 Ref Hom;A>G 1240;0|40 N N - 19 1059004 1059004 A G snp intronic ABCA7 Abca7 ENSG00000064687 ATP binding cassette subfamily A member 7 chr19:1040102-1065571 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Alzheimer Disease; chronic obstructive pulmonary disease; drug-related genes ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; bladder cancer; lung cancer ; lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; lung cancer Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006909;phagocytosis;IEA|GO:0007613;memory;ISS|GO:0010875;positive regulation of cholesterol efflux;ISS|GO:0015917;aminophospholipid transport;IEA|GO:0018149;peptide cross-linking;ISS|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034504;protein localization to nucleus;ISS|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IDA|GO:0042985;negative regulation of amyloid precursor protein biosynthetic process;ISS|GO:0045332;phospholipid translocation;IDA|GO:0050766;positive regulation of phagocytosis;ISS|GO:0055085;transmembrane transport;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:1900223;positive regulation of beta-amyloid clearance;ISS|GO:1901076;positive regulation of engulfment of apoptotic cell;ISS|GO:1902430;negative regulation of beta-amyloid formation;ISS|GO:1902995;positive regulation of phospholipid efflux;ISS GO:0000139;Golgi membrane;IEA|GO:0001891;phagocytic cup;ISS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030054;cell junction;IDA|GO:0031901;early endosome membrane;IEA|GO:0032587;ruffle membrane;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0016887;ATPase activity;IDA|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA7 https://www.uniprot.org/uniprot/Q8IZY2 https://hpo.jax.org/app/browse/search?q=ABCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605414 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA7&submit=Quick%0D%1141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA7 rs2279796 0.574681 0.5769 0.4856 1 0 0 intronic intronic intronic ABCA7 ABCA7 ENSG00000064687 Na Na Na Na Na Na Het;A>G 3872;169|169 Ref Hom;A>G 6319;0|227 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10668383 10668383 T C snp intronic KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs3745256 0.316094 0.3813 0.4056 1 0 0 intronic intronic intronic KRI1 KRI1 ENSG00000129347 Na Na Na Na Na Na Het;T>C 1498;81|66 Het;T>C 1734;58|76 Hom;T>C 3515;0|123 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10668953 10668953 G A snp intronic KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs875569 0.320487 0.3804 0.4068 1 0 0 intronic intronic intronic KRI1 KRI1 ENSG00000129347 Na Na Na Na Na Na Het;G>A 1146;36|51 Het;G>A 441;18|20 Hom;G>A 1706;0|62 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10670794 10670794 G A snp intronic KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs3745250 0.320687 0 0 1 0 0 intronic intronic intronic KRI1 KRI1 ENSG00000129347 Na Na Na Na Na Na Het;G>A 319;7|11 Het;G>A 76;3|5 Hom;G>A 276;0|8 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10670992 10670992 C T snp nonsynonymous SNV G814A E272K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs3745249 0.321086 0.3819 0.4368 0.08 1 13 exonic exonic exonic KRI1 KRI1 ENSG00000129347 nonsynonymous SNV nonsynonymous SNV unknown KRI1:NM_023008:exon9:c.G814A:p.E272K, KRI1:uc002moy.1:exon9:c.G814A:p.E272K,KRI1:uc002mox.1:exon8:c.G802A:p.E268K, UNKNOWN Het;C>T 969;48|45 Het;C>T 981;31|45 Hom;C>T 2204;2|84 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10672493 10672493 C T snp nonsynonymous SNV G430A G144R aliphatic,neutral polar,hydrophilic,charged(+) KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs12984043 0.261581 0.3092 0.3376 0.15 2 13 exonic exonic exonic KRI1 KRI1 ENSG00000129347 nonsynonymous SNV nonsynonymous SNV unknown KRI1:NM_023008:exon5:c.G430A:p.G144R, KRI1:uc002moy.1:exon5:c.G430A:p.G144R,KRI1:uc002mox.1:exon4:c.G418A:p.G140R, UNKNOWN Het;C>T 760;39|44 Het;C>T 1015;29|43 Hom;C>T 2013;0|79 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10676343 10676343 A T snp intronic KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs3745246 0.60623 0.7538 0.6404 1 0 0 intronic intronic intronic KRI1 KRI1 ENSG00000129347 Na Na Na Na Na Na Het;A>T 623;39|33 Het;A>T 339;18|16 Hom;A>T 1156;1|47 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10676423 10676423 G A snp synonymous SNV C156T S52S polar,hydrophilic,neutral polar,hydrophilic,neutral KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs3745245 0.60603 0.7467 0.7088 1 0 0 exonic exonic exonic KRI1 KRI1 ENSG00000129347 synonymous SNV synonymous SNV unknown KRI1:NM_023008:exon2:c.C156T:p.S52S, KRI1:uc002moy.1:exon2:c.C156T:p.S52S,KRI1:uc002mox.1:exon1:c.C144T:p.S48S, UNKNOWN Het;G>A 710;46|33 Het;G>A 597;35|28 Hom;G>A 2562;2|102 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10676681 10676681 T C snp nonsynonymous SNV A13G T5A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KRI1 Kri1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 rs3218222 0.604233 0.8028 0.6128 0.15 2 13 exonic exonic exonic KRI1 KRI1 ENSG00000129347 nonsynonymous SNV nonsynonymous SNV unknown KRI1:NM_023008:exon1:c.A13G:p.T5A, KRI1:uc002moy.1:exon1:c.A13G:p.T5A, UNKNOWN Het;T>C 1460;62|66 Het;T>C 734;57|38 Hom;T>C 2789;0|100 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10679067 10679070 GAGA G indel intronic CDKN2D Cdkn2d ENSG00000129355 cyclin dependent kinase inhibitor 2D chr19:10677138-10679735 The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] ovarian cancer; Waist Circumference; breast cancer ; breast cancer; Chronic renal failure|Kidney Failure, Chronic; ovarian cancer ; Multiple Endocrine Neoplasia Type 1 Both female and male homozygous null mice are fertile in spite of testicular atrophy and increased male germ cell apoptosis due to delayed meiosis. Cyclin D associated events in G1 GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007605;sensory perception of sound;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009411;response to UV;IMP|GO:0016310;phosphorylation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0032526;response to retinoic acid;IMP|GO:0033280;response to vitamin D;IMP|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0048102;autophagic cell death;IMP|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1902807;negative regulation of cell cycle G1/S phase transition;IEA|GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007605;sensory perception of sound;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009411;response to UV;IMP|GO:0016310;phosphorylation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0032526;response to retinoic acid;IMP|GO:0033280;response to vitamin D;IMP|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0048102;autophagic cell death;IMP|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1902807;negative regulation of cell cycle G1/S phase transition;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0097129;cyclin D2-CDK4 complex;IEA GO:0004861;cyclin-dependent protein serine/threonine kinase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDKN2D https://www.uniprot.org/uniprot/P55273 https://hpo.jax.org/app/browse/search?q=CDKN2D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600927 http://www.informatics.jax.org/searchtool/Search.do?query=CDKN2D&submit=Quick%0D%137ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDKN2D rs3029839 0.594249 0 0 1 0 0 intronic intronic intronic CDKN2D CDKN2D ENSG00000129355 Na Na Na Na Na Na Het;-AGA 32;5|2 Het;-AGA 119;4|4 Hom;-AGA 358;0|9 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10690321 10690321 C T snp intronic AP1M2 Ap1m2 ENSG00000129354 adaptor related protein complex 1 mu 2 subunit chr19:10683347-10697991 This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. Golgi Associated Vesicle Biogenesis GO:0006605;protein targeting;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006903;vesicle targeting;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0050690;regulation of defense response to virus by virus;TAS GO:0000139;Golgi membrane;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP1M2 https://www.uniprot.org/uniprot/Q9Y6Q5 https://www.ncbi.nlm.nih.gov/omim/?term=607309 http://www.informatics.jax.org/searchtool/Search.do?query=AP1M2&submit=Quick%0D%6244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1M2 rs73018660 0.148163 0 0 1 0 0 intronic intronic intronic AP1M2 AP1M2 ENSG00000129354 Na Na Na Na Na Na Het;C>T 333;25|18 Het;C>T 505;24|25 Hom;C>T 1541;0|54 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10697773 10697773 A G snp intronic AP1M2 Ap1m2 ENSG00000129354 adaptor related protein complex 1 mu 2 subunit chr19:10683347-10697991 This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. Golgi Associated Vesicle Biogenesis GO:0006605;protein targeting;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006903;vesicle targeting;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0050690;regulation of defense response to virus by virus;TAS GO:0000139;Golgi membrane;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP1M2 https://www.uniprot.org/uniprot/Q9Y6Q5 https://www.ncbi.nlm.nih.gov/omim/?term=607309 http://www.informatics.jax.org/searchtool/Search.do?query=AP1M2&submit=Quick%0D%6244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1M2 rs75323740 0.147564 0 0 1 0 0 intronic intronic intronic AP1M2 AP1M2 ENSG00000129354 Na Na Na Na Na Na Het;A>G 403;8|14 Het;A>G 321;3|11 Hom;A>G 547;0|17 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10697801 10697801 G T snp intronic AP1M2 Ap1m2 ENSG00000129354 adaptor related protein complex 1 mu 2 subunit chr19:10683347-10697991 This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. Golgi Associated Vesicle Biogenesis GO:0006605;protein targeting;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006903;vesicle targeting;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0050690;regulation of defense response to virus by virus;TAS GO:0000139;Golgi membrane;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP1M2 https://www.uniprot.org/uniprot/Q9Y6Q5 https://www.ncbi.nlm.nih.gov/omim/?term=607309 http://www.informatics.jax.org/searchtool/Search.do?query=AP1M2&submit=Quick%0D%6244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1M2 rs75192074 0.147764 0.2346 0 1 0 0 intronic intronic intronic AP1M2 AP1M2 ENSG00000129354 Na Na Na Na Na Na Het;G>T 498;16|21 Het;G>T 458;3|19 Hom;G>T 1044;0|35 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10746840 10746840 C T snp UTR5 -279C>T SLC44A2 Slc44a2 ENSG00000129353 solute carrier family 44 member 2 chr19:10713133-10755235 Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. Neutrophil degranulation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2 https://www.uniprot.org/uniprot/Q8IWA5 https://www.ncbi.nlm.nih.gov/omim/?term=606106 http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2 rs114238717 0.0429313 0 0 1 0 0 intronic UTR5 intronic SLC44A2 SLC44A2(uc002mph.3:c.-279C>T) ENSG00000129353 Na Na Na Na Na Na Het;C>T 152;6|6 Het;C>T 106;4|5 Hom;C>T 118;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10748295 10748295 C T snp intronic SLC44A2 Slc44a2 ENSG00000129353 solute carrier family 44 member 2 chr19:10713133-10755235 Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. Neutrophil degranulation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2 https://www.uniprot.org/uniprot/Q8IWA5 https://www.ncbi.nlm.nih.gov/omim/?term=606106 http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2 rs79521494 0.0433307 0.0310 0.0381 1 0 0 intronic intronic intronic SLC44A2 SLC44A2 ENSG00000129353 Na Na Na Na Na Na Het;C>T 1022;26|40 Het;C>T 497;26|23 Hom;C>T 1039;0|35 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10753818 10753829 TGCCCCTCTCTG T indel UTR3 *124_*135delinsT SLC44A2 Slc44a2 ENSG00000129353 solute carrier family 44 member 2 chr19:10713133-10755235 Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. Neutrophil degranulation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2 https://www.uniprot.org/uniprot/Q8IWA5 https://www.ncbi.nlm.nih.gov/omim/?term=606106 http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2 rs142310767 0.0493211 0 0 1 0 0 intronic UTR3 UTR3 SLC44A2 SLC44A2(uc002mpg.1:c.*124_*135delinsT) ENSG00000129353(ENST00000586078:c.*124_*135delinsT) Na Na Na Na Na Na Het;-GCCCCTCTCTG 215;9|7 Ref Hom;-GCCCCTCTCTG 143;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10763787 10763787 C T snp ncRNA_exonic ILF3-AS1 rs146695498 0.0457268 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ILF3-AS1 ILF3-AS1 ENSG00000267100 Na Na Na Na Na Na Het;C>T 452;13|19 Het;C>T 205;15|9 Hom;C>T 602;0|19 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10829201 10829201 C A snp intronic DNM2 Dnm2 ENSG00000079805 dynamin 2 chr19:10828755-10944164 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010] Bulimia; Coronary Disease; Alzheimer's disease; breast cancer; Lipoproteins, LDL Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum. Clathrin-mediated endocytosis GO:0000086;G2/M transition of mitotic cell cycle;NAS|GO:0000266;mitochondrial fission;IBA|GO:0002031;G-protein coupled receptor internalization;IEA|GO:0003281;ventricular septum development;IEA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;ISS|GO:0006909;phagocytosis;IEA|GO:0007165;signal transduction;NAS|GO:0007283;spermatogenesis;IEA|GO:0009416;response to light stimulus;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030516;regulation of axon extension;ISS|GO:0031623;receptor internalization;IMP|GO:0033572;transferrin transport;IMP|GO:0035020;regulation of Rac protein signal transduction;IEA|GO:0035904;aorta development;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0044351;macropinocytosis;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045807;positive regulation of endocytosis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0048489;synaptic vesicle transport;NAS|GO:0048812;neuron projection morphogenesis;ISS|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;IBA|GO:0071245;cellular response to carbon monoxide;IEA|GO:0071481;cellular response to X-ray;IEA|GO:0071732;cellular response to nitric oxide;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA|GO:1902856;negative regulation of non-motile cilium assembly;IEA|GO:1903351;cellular response to dopamine;IEA|GO:1903358;regulation of Golgi organization;IEA|GO:1903408;positive regulation of sodium:potassium-exchanging ATPase activity;IEA|GO:1903526;negative regulation of membrane tubulation;IDA GO:0000139;Golgi membrane;TAS|GO:0001891;phagocytic cup;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;ISS|GO:0030496;midbody;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IDA|GO:0045334;clathrin-coated endocytic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IDA|GO:0019899;enzyme binding;NAS|GO:0019901;protein kinase binding;IEA|GO:0031749;D2 dopamine receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IEA|GO:0050699;WW domain binding;IEA|GO:0050998;nitric-oxide synthase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM2 https://www.uniprot.org/uniprot/P50570 https://hpo.jax.org/app/browse/search?q=DNM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602378 http://www.informatics.jax.org/searchtool/Search.do?query=DNM2&submit=Quick%0D%1712ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM2 rs116956287 0.0469249 0 0 1 0 0 intronic intronic intronic DNM2 DNM2 ENSG00000079805 Na Na Na Na Na Na Het;C>A 471;9|15 Het;C>A 68;10|5 Hom;C>A 773;0|25 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 10907994 10907994 G C snp intronic DNM2 Dnm2 ENSG00000079805 dynamin 2 chr19:10828755-10944164 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010] Bulimia; Coronary Disease; Alzheimer's disease; breast cancer; Lipoproteins, LDL Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum. Clathrin-mediated endocytosis GO:0000086;G2/M transition of mitotic cell cycle;NAS|GO:0000266;mitochondrial fission;IBA|GO:0002031;G-protein coupled receptor internalization;IEA|GO:0003281;ventricular septum development;IEA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;ISS|GO:0006909;phagocytosis;IEA|GO:0007165;signal transduction;NAS|GO:0007283;spermatogenesis;IEA|GO:0009416;response to light stimulus;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030516;regulation of axon extension;ISS|GO:0031623;receptor internalization;IMP|GO:0033572;transferrin transport;IMP|GO:0035020;regulation of Rac protein signal transduction;IEA|GO:0035904;aorta development;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0044351;macropinocytosis;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045807;positive regulation of endocytosis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0048489;synaptic vesicle transport;NAS|GO:0048812;neuron projection morphogenesis;ISS|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;IBA|GO:0071245;cellular response to carbon monoxide;IEA|GO:0071481;cellular response to X-ray;IEA|GO:0071732;cellular response to nitric oxide;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA|GO:1902856;negative regulation of non-motile cilium assembly;IEA|GO:1903351;cellular response to dopamine;IEA|GO:1903358;regulation of Golgi organization;IEA|GO:1903408;positive regulation of sodium:potassium-exchanging ATPase activity;IEA|GO:1903526;negative regulation of membrane tubulation;IDA GO:0000139;Golgi membrane;TAS|GO:0001891;phagocytic cup;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;ISS|GO:0030496;midbody;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IDA|GO:0045334;clathrin-coated endocytic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IDA|GO:0019899;enzyme binding;NAS|GO:0019901;protein kinase binding;IEA|GO:0031749;D2 dopamine receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IEA|GO:0050699;WW domain binding;IEA|GO:0050998;nitric-oxide synthase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM2 https://www.uniprot.org/uniprot/P50570 https://hpo.jax.org/app/browse/search?q=DNM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602378 http://www.informatics.jax.org/searchtool/Search.do?query=DNM2&submit=Quick%0D%1712ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM2 rs74718485 0.101637 0 0 1 0 0 intronic intronic intronic DNM2 DNM2 ENSG00000079805 Na Na Na Na Na Na Het;G>C 488;9|19 Het;G>C 251;10|9 Hom;G>C 584;0|19 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11027513 11027513 C T snp intronic CARM1 Carm1 ENSG00000142453 coactivator associated arginine methyltransferase 1 chr19:10982189-11033453 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013] Spinal Dysraphism; Eosinophils; plasma HDL cholesterol (HDL-C) levels; Lipoproteins, LDL; breast cancer Homozygous null fetuses are small and die perinatally, whereas heterozygotes are born at the expected Mendelian ratio but show decreased survival through weaning. Mice homozygous for a kinase null allele exhibit neonatal lethality, arrested T cell development, and impaired adipogenesis. RUNX3 regulates YAP1-mediated transcription GO:0003420;regulation of growth plate cartilage chondrocyte proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006479;protein methylation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019919;peptidyl-arginine methylation, to asymmetrical-dimethyl arginine;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;IEA|GO:0030520;intracellular estrogen receptor signaling pathway;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032259;methylation;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0034969;histone arginine methylation;IEA|GO:0034970;histone H3-R2 methylation;IMP|GO:0034971;histone H3-R17 methylation;IEA|GO:0035246;peptidyl-arginine N-methylation;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051591;response to cAMP;IEA|GO:0060350;endochondral bone morphogenesis;IEA|GO:0071168;protein localization to chromatin;IEA|GO:1902415;regulation of mRNA binding;IEA|GO:2000171;negative regulation of dendrite development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043234;protein complex;IEA|GO:0090575;RNA polymerase II transcription factor complex;IEA GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0008168;methyltransferase activity;IEA|GO:0008276;protein methyltransferase activity;IEA|GO:0008469;histone-arginine N-methyltransferase activity;IDA|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0035242;protein-arginine omega-N asymmetric methyltransferase activity;IEA|GO:0035642;histone methyltransferase activity (H3-R17 specific);IEA|GO:0042054;histone methyltransferase activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0070577;lysine-acetylated histone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CARM1 https://www.uniprot.org/uniprot/Q86X55 https://www.ncbi.nlm.nih.gov/omim/?term=603934 http://www.informatics.jax.org/searchtool/Search.do?query=CARM1&submit=Quick%0D%8284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARM1 rs111698028 0.0367412 0.0425 0 1 0 0 intronic intronic intronic CARM1 CARM1 ENSG00000142453 Na Na Na Na Na Na Het;C>T 299;22|15 Het;C>T 174;16|10 Hom;C>T 564;0|22 N N - 19 1106615 1106615 T C snp unknown GPX4 Gpx4 ENSG00000167468 glutathione peroxidase 4 chr19:1103936-1106787 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016] Type 2 Diabetes| edema | rosiglitazone; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Aging/ Telomere Length; normal variation; lung cancer ; ovarian cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Adenoma|Colorectal Neoplasms; infertility, male; bladder cancer; colorectal cancer; benzene haematotoxicity; null; chronic obstructive pulmonary disease; breast cancer; lung cancer; diabetes, type 2; liver disease; cognitive trait; atherosclerosis; asthma; Tobacco Use Disorder Gastrulation is impaired and homozygous mutant embryos consequently die during early embryonic development. Synthesis of 15-eicosatetraenoic acid derivatives GO:0006644;phospholipid metabolic process;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007275;multicellular organism development;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0051258;protein polymerization;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007275;multicellular organism development;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0051258;protein polymerization;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IMP|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;IEA|GO:0004602;glutathione peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IMP|GO:0047066;phospholipid-hydroperoxide glutathione peroxidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPX4 https://www.uniprot.org/uniprot/P36969 https://hpo.jax.org/app/browse/search?q=GPX4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138322 http://www.informatics.jax.org/searchtool/Search.do?query=GPX4&submit=Quick%0D%205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPX4 rs713041 0.599042 0.5920 0.5960 1 0 0 exonic exonic exonic GPX4 GPX4 ENSG00000167468 unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN Het;T>C 2134;97|95 Ref Hom;T>C 4914;0|183 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11130431 11130431 G A snp intronic SMARCA4 Smarca4 ENSG00000127616 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 chr19:11071598-11176071 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Coronary Artery Disease; Waist-Hip Ratio; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Cardiovascular Diseases; Coronary Disease; breast cancer ; Lipid Metabolism; Eosinophils; Lipoproteins, LDL; Cholesterol, LDL Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0003407;neural retina development;IEP|GO:0006325;chromatin organization;TAS|GO:0006337;nucleosome disassembly;IDA|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007399;nervous system development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0030308;negative regulation of cell growth;IMP|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043923;positive regulation by host of viral transcription;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1902661;positive regulation of glucose mediated signaling pathway;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS GO:0000790;nuclear chromatin;IDA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;IDA|GO:0071565;nBAF complex;ISS GO:0000166;nucleotide binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IDA|GO:0002039;p53 binding;IPI|GO:0003713;transcription coactivator activity;IMP|GO:0003714;transcription corepressor activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IGI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016817;hydrolase activity, acting on acid anhydrides;IEA|GO:0016887;ATPase activity;IEA|GO:0030957;Tat protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA|GO:0042393;histone binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0050681;androgen receptor binding;IPI|GO:0070182;DNA polymerase binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SMARCA4 https://www.uniprot.org/uniprot/P51532 https://hpo.jax.org/app/browse/search?q=SMARCA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603254 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCA4&submit=Quick%0D%6061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCA4 rs45565139 0.0261581 0 0 1 0 0 intronic intronic intronic SMARCA4 SMARCA4 ENSG00000127616 Na Na Na Na Na Na Het;G>A 941;38|44 Het;G>A 972;30|40 Hom;G>A 1877;0|68 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11143811 11143811 C G snp intronic SMARCA4 Smarca4 ENSG00000127616 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 chr19:11071598-11176071 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Coronary Artery Disease; Waist-Hip Ratio; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Cardiovascular Diseases; Coronary Disease; breast cancer ; Lipid Metabolism; Eosinophils; Lipoproteins, LDL; Cholesterol, LDL Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0003407;neural retina development;IEP|GO:0006325;chromatin organization;TAS|GO:0006337;nucleosome disassembly;IDA|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007399;nervous system development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0030308;negative regulation of cell growth;IMP|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043923;positive regulation by host of viral transcription;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1902661;positive regulation of glucose mediated signaling pathway;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS GO:0000790;nuclear chromatin;IDA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;IDA|GO:0071565;nBAF complex;ISS GO:0000166;nucleotide binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IDA|GO:0002039;p53 binding;IPI|GO:0003713;transcription coactivator activity;IMP|GO:0003714;transcription corepressor activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IGI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016817;hydrolase activity, acting on acid anhydrides;IEA|GO:0016887;ATPase activity;IEA|GO:0030957;Tat protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA|GO:0042393;histone binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0050681;androgen receptor binding;IPI|GO:0070182;DNA polymerase binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SMARCA4 https://www.uniprot.org/uniprot/P51532 https://hpo.jax.org/app/browse/search?q=SMARCA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603254 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCA4&submit=Quick%0D%6061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCA4 rs58486047 0.21266 0 0 1 0 0 intronic intronic intronic SMARCA4 SMARCA4 ENSG00000127616 Na Na Na Na Na Na Het;C>G 321;7|11 Het;C>G 138;12|6 Hom;C>G 407;0|13 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11221457 11221457 G C snp intronic LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs12710260 0.276957 0.3377 0.3849 1 0 0 intronic intronic intronic LDLR LDLR ENSG00000130164 Na Na Na Na Na Na Het;G>C 2386;126|111 Het;G>C 2024;104|96 Hom;G>C 8715;0|192 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11224181 11224181 C T snp ncRNA_exonic MIR6886 rs1003723 0.276757 0.3392 0.3858 1 0 0 ncRNA_exonic intronic intronic MIR6886 LDLR ENSG00000130164 Na Na Na Na Na Na Het;C>T 1639;55|65 Het;C>T 1212;49|51 Hom;C>T 2598;0|89 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11226543 11226543 A G snp intronic LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs1962352 0.273163 0 0 1 0 0 intronic intronic intronic LDLR LDLR ENSG00000130164 Na Na Na Na Na Na Het;A>G 91;2|4 Ref Hom;A>G 154;0|5 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11227070 11227070 C T snp intronic LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs2738445 0.594649 0 0 1 0 0 intronic intronic intronic LDLR LDLR ENSG00000130164 Na Na Na Na Na Na Het;C>T 170;6|8 Het;C>T 150;1|7 Hom;C>T 415;0|13 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11227326 11227326 C G snp intronic LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs2738446 0.276358 0 0 1 0 0 intronic intronic intronic LDLR LDLR ENSG00000130164 Na Na Na Na Na Na Het;C>G 163;3|5 Het;C>G 136;1|6 Hom;C>G 319;0|9 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11227602 11227602 C T snp synonymous SNV C1650T N550N polar,hydrophilic,neutral polar,hydrophilic,neutral LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs688 0.275759 0.3352 0.3781 1 0 0 exonic exonic exonic LDLR LDLR ENSG00000130164 synonymous SNV synonymous SNV unknown LDLR:NM_001195799:exon11:c.C1650T:p.N550N,LDLR:NM_001195803:exon11:c.C1392T:p.N464N,LDLR:NM_000527:exon12:c.C1773T:p.N591N,LDLR:NM_001195798:exon12:c.C1773T:p.N591N,LDLR:NM_001195800:exon10:c.C1269T:p.N423N, LDLR:uc010xlm.2:exon11:c.C1332T:p.N444N,LDLR:uc010xll.2:exon11:c.C1650T:p.N550N,LDLR:uc002mqk.4:exon12:c.C1773T:p.N591N,LDLR:uc021upc.1:exon11:c.C1410T:p.N470N,LDLR:uc021upd.1:exon12:c.C984T:p.N328N,LDLR:uc010xlo.2:exon10:c.C1269T:p.N423N,LDLR:uc010xlk.2:exon12:c.C1773T:p.N591N,LDLR:uc010xln.2:exon11:c.C1392T:p.N464N, UNKNOWN Het;C>T 1511;84|77 Het;C>T 1567;77|74 Hom;C>T 4203;0|159 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11230645 11230645 T C snp intronic LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs2569549 0.334065 0 0 1 0 0 intronic intronic intronic LDLR LDLR ENSG00000130164 Na Na Na Na Na Na Het;T>C 200;6|7 Het;T>C 143;7|6 Hom;T>C 525;0|17 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11230881 11230881 T C snp synonymous SNV T1836C V612V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs5925 0.335863 0.3662 0.4092 1 0 0 exonic exonic exonic LDLR LDLR ENSG00000130164 synonymous SNV synonymous SNV unknown LDLR:NM_001195799:exon12:c.T1836C:p.V612V,LDLR:NM_001195803:exon12:c.T1578C:p.V526V,LDLR:NM_000527:exon13:c.T1959C:p.V653V,LDLR:NM_001195798:exon13:c.T1959C:p.V653V,LDLR:NM_001195800:exon11:c.T1455C:p.V485V, LDLR:uc010xlm.2:exon12:c.T1518C:p.V506V,LDLR:uc010xll.2:exon12:c.T1836C:p.V612V,LDLR:uc002mqk.4:exon13:c.T1959C:p.V653V,LDLR:uc021upc.1:exon12:c.T1596C:p.V532V,LDLR:uc021upd.1:exon13:c.T1170C:p.V390V,LDLR:uc010xlo.2:exon11:c.T1455C:p.V485V,LDLR:uc010xlk.2:exon13:c.T1959C:p.V653V,LDLR:uc010xln.2:exon12:c.T1578C:p.V526V, UNKNOWN Het;T>C 2643;82|110 Het;T>C 2115;87|92 Hom;T>C 3571;0|128 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11241915 11241915 A G snp intronic LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs6413504 0.351038 0.3954 0.4387 1 0 0 intronic intronic intronic LDLR LDLR ENSG00000130164 Na Na Na Na Na Na Het;A>G 1514;74|68 Het;A>G 1406;50|58 Hom;A>G 3582;0|129 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11242658 11242658 T C snp UTR3 *666T>C LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs1433099 0.637181 0 0 1 0 0 UTR3 UTR3 UTR3 LDLR(NM_001195798:c.*666T>C,NM_001195803:c.*666T>C,NM_001195800:c.*666T>C,NM_000527:c.*666T>C,NM_001195799:c.*666T>C) LDLR(uc010xlk.2:c.*666T>C,uc002mqk.4:c.*666T>C,uc010xll.2:c.*666T>C,uc021upc.1:c.*666T>C,uc010xln.2:c.*666T>C,uc010xlo.2:c.*666T>C,uc010xlm.2:c.*666T>C,uc021upd.1:c.*666T>C,uc010dxu.3:c.*464T>C) ENSG00000130164(ENST00000558518:c.*666T>C,ENST00000252444:c.*666T>C) Na Na Na Na Na Na Het;T>C 1428;58|61 Het;T>C 1265;60|58 Hom;T>C 3578;2|128 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11243207 11243207 C CA indel UTR3 *1215C>CA LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs34113544 0.58726 0 0 1 0 0 UTR3 UTR3 UTR3 LDLR(NM_001195798:c.*1215C>CA,NM_001195803:c.*1215C>CA,NM_001195800:c.*1215C>CA,NM_000527:c.*1215C>CA,NM_001195799:c.*1215C>CA) LDLR(uc010xlk.2:c.*1215C>CA,uc002mqk.4:c.*1215C>CA,uc010xll.2:c.*1215C>CA,uc021upc.1:c.*1215C>CA,uc010xln.2:c.*1215C>CA,uc010xlo.2:c.*1215C>CA,uc010xlm.2:c.*1215C>CA,uc021upd.1:c.*1215C>CA,uc010dxu.3:c.*1013C>CA) ENSG00000130164(ENST00000252444:c.*1215C>CA) Na Na Na Na Na Na Het;+A 80;3|3 Ref Hom;+A 143;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11243209 11243209 C G snp UTR3 *1217C>G LDLR Ldlr ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR rs3180023 0.585064 0 0 1 0 0 UTR3 UTR3 UTR3 LDLR(NM_001195798:c.*1217C>G,NM_001195803:c.*1217C>G,NM_001195800:c.*1217C>G,NM_000527:c.*1217C>G,NM_001195799:c.*1217C>G) LDLR(uc010xlk.2:c.*1217C>G,uc002mqk.4:c.*1217C>G,uc010xll.2:c.*1217C>G,uc021upc.1:c.*1217C>G,uc010xln.2:c.*1217C>G,uc010xlo.2:c.*1217C>G,uc010xlm.2:c.*1217C>G,uc021upd.1:c.*1217C>G,uc010dxu.3:c.*1015C>G) ENSG00000130164(ENST00000252444:c.*1217C>G) Na Na Na Na Na Na Het;C>G 89;3|3 Ref Hom;C>G 152;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11257018 11257018 T C snp unknown SPC24 Spc24 ENSG00000161888 SPC24, NDC80 kinetochore complex component chr19:11242196-11266484 Myocardial Infarction Mitotic Prometaphase GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS|GO:0031262;Ndc80 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPC24 https://www.ncbi.nlm.nih.gov/omim/?term=609394 http://www.informatics.jax.org/searchtool/Search.do?query=SPC24&submit=Quick%0D%10616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPC24 rs11557092 0.548722 0 0.6 1 0 0 downstream downstream exonic SPC24 SPC24 ENSG00000161888 Na Na unknown Na Na UNKNOWN Het;T>C 775;27|35 Het;T>C 586;19|26 Hom;T>C 1466;0|55 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11314807 11314820 CTGGGGATGAGGAG C indel ncRNA_intronic AC011472.1 rs3217390 0.510583 0.5411 0.5595 1 0 0 intronic intronic ncRNA_intronic DOCK6 DOCK6 ENSG00000267082 Na Na Na Na Na Na Het;-TGGGGATGAGGAG 724;27|20 Het;-TGGGGATGAGGAG 483;22|14 Hom;-TGGGGATGAGGAG 1257;0|29 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11319491 11319491 G A snp synonymous SNV C4959T N1653N polar,hydrophilic,neutral polar,hydrophilic,neutral DOCK6 Dock6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 rs8409 0.441693 0.4895 0.5387 1 0 0 exonic exonic exonic DOCK6 DOCK6 ENSG00000130158 synonymous SNV synonymous SNV unknown DOCK6:NM_020812:exon39:c.C4959T:p.N1653N, DOCK6:uc002mqs.5:exon39:c.C4959T:p.N1653N,DOCK6:uc002mqr.5:exon2:c.C153T:p.N51N,DOCK6:uc010xlq.3:exon25:c.C2976T:p.N992N, UNKNOWN Het;G>A 2929;148|138 Het;G>A 2131;112|98 Hom;G>A 5944;2|225 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11322980 11322980 T C snp ncRNA_intronic AC011472.1 rs11666655 0.283746 0 0 1 0 0 intronic intronic ncRNA_intronic DOCK6 DOCK6 ENSG00000267082 Na Na Na Na Na Na Het;T>C 209;6|9 Het;T>C 288;6|10 Hom;T>C 274;0|9 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11324890 11324890 T C snp ncRNA_intronic AC011472.1 rs12609620 0.59345 0 0 1 0 0 intronic intronic ncRNA_intronic DOCK6 DOCK6 ENSG00000267082 Na Na Na Na Na Na Het;T>C 661;18|28 Het;T>C 691;23|30 Hom;T>C 1282;0|43 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11325338 11325338 A T snp ncRNA_intronic AC011472.1 rs369430502 0.000399361 0.0002 0.0009 1 0 0 intronic intronic ncRNA_intronic DOCK6 DOCK6 ENSG00000267082 Na Na Na Na Na Na Het;A>T 834;40|40 Het;A>T 929;35|42 Hom;A>T 2028;0|78 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11325417 11325417 A G snp ncRNA_intronic AC011472.1 rs2163830 0.454673 0 0 1 0 0 intronic intronic ncRNA_intronic DOCK6 DOCK6 ENSG00000267082 Na Na Na Na Na Na Het;A>G 256;10|8 Het;A>G 303;14|10 Hom;A>G 741;0|18 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11325924 11325924 C G snp ncRNA_intronic AC011472.1 rs11673129 0.451877 0 0 1 0 0 intronic intronic ncRNA_intronic DOCK6 DOCK6 ENSG00000267082 Na Na Na Na Na Na Het;C>G 196;5|7 Het;C>G 70;1|3 Hom;C>G 222;0|7 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11326119 11326119 A G snp synonymous SNV T4050C N1350N polar,hydrophilic,neutral polar,hydrophilic,neutral DOCK6 Dock6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 rs2304155 0.500799 0.5752 0.5701 1 0 0 exonic exonic exonic DOCK6 DOCK6 ENSG00000130158 synonymous SNV synonymous SNV unknown DOCK6:NM_020812:exon32:c.T4050C:p.N1350N, DOCK6:uc002mqs.5:exon32:c.T4050C:p.N1350N,DOCK6:uc010xlq.3:exon18:c.T2067C:p.N689N, UNKNOWN Het;A>G 1119;74|33 Het;A>G 2468;57|64 Hom;A>G 3699;0|86 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11326125 11326125 C T snp synonymous SNV G4044A P1348P hydrophobic,neutral hydrophobic,neutral DOCK6 Dock6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 rs2304154 0.452676 0.5277 0.5565 1 0 0 exonic exonic exonic DOCK6 DOCK6 ENSG00000130158 synonymous SNV synonymous SNV unknown DOCK6:NM_020812:exon32:c.G4044A:p.P1348P, DOCK6:uc002mqs.5:exon32:c.G4044A:p.P1348P,DOCK6:uc010xlq.3:exon18:c.G2061A:p.P687P, UNKNOWN Het;C>T 1128;70|32 Het;C>T 2468;57|63 Hom;C>T 3649;0|81 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11327571 11327571 C T snp intronic DOCK6 Dock6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 rs4804150 0.278355 0.3659 0.4035 1 0 0 intronic intronic intronic DOCK6 DOCK6 ENSG00000130158 Na Na Na Na Na Na Het;C>T 910;47|36 Het;C>T 498;20|22 Hom;C>T 1866;0|68 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11327608 11327608 T C snp synonymous SNV A3876G L1292L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DOCK6 Dock6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 rs4804151 0.59345 0.6804 0.6476 1 0 0 exonic exonic exonic DOCK6 DOCK6 ENSG00000130158 synonymous SNV synonymous SNV unknown DOCK6:NM_020812:exon30:c.A3876G:p.L1292L, DOCK6:uc002mqs.5:exon30:c.A3876G:p.L1292L,DOCK6:uc010xlq.3:exon16:c.A1893G:p.L631L, UNKNOWN Het;T>C 2528;79|67 Het;T>C 1709;44|45 Hom;T>C 5223;0|116 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11327626 11327626 A G snp synonymous SNV T3858C D1286D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) DOCK6 Dock6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 rs4804152 0.579473 0.6632 0.6436 1 0 0 exonic exonic exonic DOCK6 DOCK6 ENSG00000130158 synonymous SNV synonymous SNV unknown DOCK6:NM_020812:exon30:c.T3858C:p.D1286D, DOCK6:uc002mqs.5:exon30:c.T3858C:p.D1286D,DOCK6:uc010xlq.3:exon16:c.T1875C:p.D625D, UNKNOWN Het;A>G 2699;95|76 Het;A>G 1951;55|54 Hom;A>G 5977;0|147 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11406839 11406839 C G snp UTR5 -135C>G TSPAN16 ENSG00000130167 tetraspanin 16 chr19:11406824-11437672 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0007166;cell surface receptor signaling pathway;IBA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16 https://www.uniprot.org/uniprot/Q9UKR8 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16 rs453766 0.259385 0 0 1 0 0 UTR5 UTR5 UTR5 TSPAN16(NM_001282510:c.-135C>G,NM_001282509:c.-135C>G,NM_012466:c.-135C>G) TSPAN16(uc002mqv.1:c.-135C>G) ENSG00000130167(ENST00000316737:c.-135C>G,ENST00000592955:c.-135C>G) Na Na Na Na Na Na Het;C>G 565;37|22 Het;C>G 199;32|11 Hom;C>G 1517;0|51 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11409111 11409113 ATT A indel intronic TSPAN16 ENSG00000130167 tetraspanin 16 chr19:11406824-11437672 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0007166;cell surface receptor signaling pathway;IBA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16 https://www.uniprot.org/uniprot/Q9UKR8 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16 rs34774674 0 0 0 1 0 0 intronic intronic intronic TSPAN16 TSPAN16 ENSG00000130167 Na Na Na Na Na Na Het;-TT 240;2|8 Ref Hom;-TT 185;1|7 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11417200 11417200 C T snp ncRNA_intronic AC011472.2 rs322151 0.264177 0 0.2712 1 0 0 intronic intronic ncRNA_intronic TSPAN16 AF161365,TSPAN16 ENSG00000267174 Na Na Na Na Na Na Het;C>T 514;7|18 Het;C>T 62;11|5 Hom;C>T 376;0|13 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11446031 11446031 G C snp intronic RAB3D Rab3d ENSG00000105514 RAB3D, member RAS oncogene family chr19:11432722-11456946 Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for disruptions in this gene show no obvious phenotypic changes. Secretory granules in mast cells and some exocrine glands are double in volume however. RAB geranylgeranylation GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0018125;peptidyl-cysteine methylation;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045453;bone resorption;IDA|GO:1903307;positive regulation of regulated secretory pathway;IMP GO:0005739;mitochondrion;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030133;transport vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042588;zymogen granule;IEA|GO:0070062;extracellular exosome;IDA|GO:0099503;secretory vesicle;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA|GO:0030742;GTP-dependent protein binding;IEA|GO:0031489;myosin V binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB3D https://www.uniprot.org/uniprot/O95716 https://www.ncbi.nlm.nih.gov/omim/?term=604350 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3D&submit=Quick%0D%3322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3D rs112354933 0.0167732 0 0 1 0 0 intronic intronic intronic RAB3D RAB3D ENSG00000105514 Na Na Na Na Na Na Het;G>C 441;26|17 Het;G>C 558;37|27 Hom;G>C 934;0|32 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11529958 11529958 C T snp UTR5 -4G>A RGL3 Rgl3 ENSG00000205517 ral guanine nucleotide dissociation stimulator like 3 chr19:11495017-11530018 Type 2 Diabetes| edema | rosiglitazone GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008321;Ral guanyl-nucleotide exchange factor activity;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0031267;small GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGL3 https://www.ncbi.nlm.nih.gov/omim/?term=616743 http://www.informatics.jax.org/searchtool/Search.do?query=RGL3&submit=Quick%0D%17527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGL3 rs1549168 0.213458 0.2487 0.2876 1 0 0 UTR5 UTR5 UTR5 RGL3(NM_001035223:c.-4G>A,NM_001161616:c.-4G>A) RGL3(uc002mrn.2:c.-12489G>A,uc002mrm.2:c.-12489G>A,uc002mro.2:c.-4G>A,uc002mrp.2:c.-4G>A,uc002mrq.2:c.-4G>A) ENSG00000205517(ENST00000563726:c.-4G>A,ENST00000380456:c.-4G>A,ENST00000393423:c.-4G>A,ENST00000567080:c.-4G>A) Na Na Na Na Na Na Het;C>T 672;26|29 Het;C>T 504;32|24 Hom;C>T 845;0|32 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11541685 11541685 G A snp intronic CCDC151 Ccdc151 ENSG00000198003 coiled-coil domain containing 151 chr19:11531272-11546603 This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Primary cillary dyskineasia Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. Mice homozygous for a conditional allele activated ubiquitously in adults exhibit reduced sperm number and motility. GO:0003341;cilium movement;IMP|GO:0007368;determination of left/right symmetry;IMP|GO:0030030;cell projection organization;IEA|GO:0036158;outer dynein arm assembly;IDA|GO:0070286;axonemal dynein complex assembly;IEA|GO:1902017;regulation of cilium assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC151 https://hpo.jax.org/app/browse/search?q=CCDC151&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615956 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC151&submit=Quick%0D%16783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC151 rs34095 0.360423 0.3676 0.4257 1 0 0 intronic intronic intronic CCDC151 CCDC151 ENSG00000198003 Na Na Na Na Na Na Het;G>A 1163;47|53 Het;G>A 555;29|26 Hom;G>A 2226;0|81 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11598657 11598657 A G snp synonymous SNV T621C S207S polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF653 Zfp653 ENSG00000161914 zinc finger protein 653 chr19:11594242-11616738 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF653 https://www.ncbi.nlm.nih.gov/omim/?term=611371 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF653&submit=Quick%0D%10621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF653 rs117673751 0.0203674 0.0264 0.0323 1 0 0 exonic exonic exonic ZNF653 ZNF653 ENSG00000161914 synonymous SNV synonymous SNV unknown ZNF653:NM_138783:exon4:c.T621C:p.S207S, ZNF653:uc002mrz.2:exon4:c.T621C:p.S207S, UNKNOWN Het;A>G 1294;47|52 Het;A>G 1067;43|46 Hom;A>G 2208;0|78 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11725413 11725413 G A snp synonymous SNV G75A Q25Q polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF627 Zfp867 ENSG00000198551 zinc finger protein 627 chr19:11670189-11729950 myocardial infarction; Myocardial Infarction Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF627 https://www.ncbi.nlm.nih.gov/omim/?term=612248 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF627&submit=Quick%0D%16922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF627 rs12151212 0.121805 0.1623 0.1758 1 0 0 exonic exonic exonic ZNF627 ZNF627 ENSG00000198551 synonymous SNV synonymous SNV unknown ZNF627:NM_145295:exon2:c.G75A:p.Q25Q, ZNF627:uc002msk.2:exon2:c.G75A:p.Q25Q, UNKNOWN Het;G>A 351;19|17 Het;G>A 712;27|31 Hom;G>A 1166;0|45 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11727503 11727503 T C snp intronic ZNF627 Zfp867 ENSG00000198551 zinc finger protein 627 chr19:11670189-11729950 myocardial infarction; Myocardial Infarction Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF627 https://www.ncbi.nlm.nih.gov/omim/?term=612248 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF627&submit=Quick%0D%16922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF627 rs4545929 0.384585 0.4219 0.4644 1 0 0 intronic intronic intronic ZNF627 ZNF627 ENSG00000198551 Na Na Na Na Na Na Het;T>C 300;21|13 Het;T>C 505;15|19 Hom;T>C 880;0|31 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11732863 11732863 C T snp intergenic ZNF627 Zfp867 ENSG00000198551 zinc finger protein 627 chr19:11670189-11729950 myocardial infarction; Myocardial Infarction Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF627 https://www.ncbi.nlm.nih.gov/omim/?term=612248 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF627&submit=Quick%0D%16922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF627 rs2141399 0.384585 0 0 1 0 0 intergenic intergenic intergenic ZNF627(dist=2889),ZNF833P(dist=51950) ZNF627(dist=2889),NONE(dist=NONE) ENSG00000198551(dist=2913),ENSG00000197332(dist=17728) Na Na Na Na Na Na Het;C>T 39;2|2 Het;C>T 74;7|5 Hom;C>T 120;0|6 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11833891 11833891 G C snp nonsynonymous SNV C458G T153R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF823 ENSG00000197933 zinc finger protein 823 chr19:11832080-11849824 Blood Pressure GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF823 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF823&submit=Quick%0D%16758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF823 rs117644723 0.00838658 0.0074 0.0090 0.17 2 12 exonic exonic exonic ZNF823 ZNF823 ENSG00000197933 nonsynonymous SNV nonsynonymous SNV unknown ZNF823:NM_001080493:exon4:c.C458G:p.T153R,ZNF823:NM_017507:exon3:c.C326G:p.T109R, ZNF823:uc002msm.2:exon4:c.C458G:p.T153R,ZNF823:uc010dyi.1:exon3:c.C326G:p.T109R, UNKNOWN Het;G>C 1469;99|69 Het;G>C 1460;90|60 Hom;G>C 3769;2|135 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11878095 11878095 T G snp intronic ZNF441 ENSG00000197044 zinc finger protein 441 chr19:11877815-11894893 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF441 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF441&submit=Quick%0D%16527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF441 rs384148 0.289137 0.3988 0 1 0 0 intronic intronic intronic ZNF441 ZNF441 ENSG00000197044 Na Na Na Na Na Na Het;T>G 237;7|10 Het;T>G 124;1|4 Hom;T>G 370;0|12 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11941221 11941221 T A snp nonsynonymous SNV T127A L43I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 rs424132 0.321286 0 0.3459 0.08 1 12 exonic exonic exonic ZNF440 ZNF440 ENSG00000171295 nonsynonymous SNV nonsynonymous SNV unknown ZNF440:NM_152357:exon2:c.T127A:p.L43I, ZNF440:uc002msp.1:exon2:c.T127A:p.L43I, UNKNOWN Het;T>A 462;8|20 Het;T>A 89;12|6 Hom;T>A 543;0|21 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11941256 11941256 A G snp intronic ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 rs421355 0.310503 0.4002 0.3427 1 0 0 intronic intronic intronic ZNF440 ZNF440 ENSG00000171295 Na Na Na Na Na Na Het;A>G 406;9|18 Het;A>G 59;11|4 Hom;A>G 469;0|17 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11942362 11942362 A G snp nonsynonymous SNV A371G N124S polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 rs427880 0.535942 0.5538 0.4454 0.08 1 12 exonic exonic exonic ZNF440 ZNF440 ENSG00000171295 nonsynonymous SNV nonsynonymous SNV unknown ZNF440:NM_152357:exon4:c.A371G:p.N124S, ZNF440:uc002msp.1:exon4:c.A371G:p.N124S, UNKNOWN Het;A>G 550;7|19 Het;A>G 740;20|26 Hom;A>G 1057;0|36 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11942615 11942615 A C snp synonymous SNV A624C A208A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 rs394416 0.535343 0.5532 0.4452 1 0 0 exonic exonic exonic ZNF440 ZNF440 ENSG00000171295 synonymous SNV synonymous SNV unknown ZNF440:NM_152357:exon4:c.A624C:p.A208A, ZNF440:uc002msp.1:exon4:c.A624C:p.A208A, UNKNOWN Het;A>C 156;5|6 Het;A>C 189;7|7 Hom;A>C 256;0|8 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11942771 11942771 G A snp synonymous SNV G780A E260E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 rs436411 0.335264 0.4280 0.3500 1 0 0 exonic exonic exonic ZNF440 ZNF440 ENSG00000171295 synonymous SNV synonymous SNV unknown ZNF440:NM_152357:exon4:c.G780A:p.E260E, ZNF440:uc002msp.1:exon4:c.G780A:p.E260E, UNKNOWN Het;G>A 46;14|4 Het;G>A 145;22|11 Hom;G>A 772;0|30 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11943713 11943713 G A snp synonymous SNV G1722A R574R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 rs56167415 0.067492 0.1558 0.1463 1 0 0 exonic exonic exonic ZNF440 ZNF440 ENSG00000171295 synonymous SNV synonymous SNV unknown ZNF440:NM_152357:exon4:c.G1722A:p.R574R, ZNF440:uc002msp.1:exon4:c.G1722A:p.R574R, UNKNOWN Het;G>A 162;6|6 Het;G>A 234;5|10 Hom;G>A 544;0|16 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11944066 11944066 A G snp ncRNA_exonic AX747599 rs430965 0.321286 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 ZNF440(NM_152357:c.*287A>G) AX747599 ENSG00000171295(ENST00000304060:c.*287A>G) Na Na Na Na Na Na Het;A>G 44;4|2 Ref Hom;A>G 278;0|7 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 11944070 11944070 A G snp ncRNA_exonic AX747599 rs381973 0.321286 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 ZNF440(NM_152357:c.*291A>G) AX747599 ENSG00000171295(ENST00000304060:c.*291A>G) Na Na Na Na Na Na Het;A>G 44;4|2 Ref Hom;A>G 278;0|6 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12156839 12156839 A G snp ncRNA_intronic AC008770.1 rs143889828 0.0113818 0 0 1 0 0 intronic intronic ncRNA_intronic ZNF878 ZNF878 ENSG00000219665 Na Na Na Na Na Na Het;A>G 342;26|18 Het;A>G 297;14|16 Hom;A>G 1192;1|47 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12187151 12187151 C G snp nonsynonymous SNV C1216G P406A hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF844 ENSG00000223547 zinc finger protein 844 chr19:12175514-12192380 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF844 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF844&submit=Quick%0D%18483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF844 rs146604057 0.0113818 0.0096 0.0147 0.00 0 12 exonic exonic exonic ZNF844 ZNF844 ENSG00000223547 nonsynonymous SNV nonsynonymous SNV unknown ZNF844:NM_001136501:exon4:c.C1216G:p.P406A, ZNF844:uc002mtb.2:exon4:c.C1216G:p.P406A,ZNF844:uc010dym.1:exon3:c.C745G:p.P249A, UNKNOWN Het;C>G 546;7|18 Het;C>G 100;11|5 Hom;C>G 695;0|18 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12541214 12541214 G T snp nonsynonymous SNV C1772A P591Q hydrophobic,neutral polar,hydrophilic,neutral ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs7256321 0.391174 0.3392 0.3211 0.08 1 12 exonic exonic exonic ZNF443 ZNF443 ENSG00000180855 nonsynonymous SNV nonsynonymous SNV unknown ZNF443:NM_005815:exon4:c.C1772A:p.P591Q, ZNF443:uc002mtu.3:exon4:c.C1772A:p.P591Q, UNKNOWN Het;G>T 724;47|38 Het;G>T 911;55|43 Hom;G>T 2529;0|96 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12541542 12541542 C T snp nonsynonymous SNV G1444A G482R aliphatic,neutral polar,hydrophilic,charged(+) ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs34507016 0.390974 0.2728 0.2692 0.58 7 12 exonic exonic exonic ZNF443 ZNF443 ENSG00000180855 nonsynonymous SNV nonsynonymous SNV unknown ZNF443:NM_005815:exon4:c.G1444A:p.G482R, ZNF443:uc002mtu.3:exon4:c.G1444A:p.G482R, UNKNOWN Het;C>T 108;7|2 Ref Hom;C>T 467;0|11 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12541544 12541544 A C snp nonsynonymous SNV T1442G L481R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs35055629 0.391174 0.2748 0.2896 0.08 1 12 exonic exonic exonic ZNF443 ZNF443 ENSG00000180855 nonsynonymous SNV nonsynonymous SNV unknown ZNF443:NM_005815:exon4:c.T1442G:p.L481R, ZNF443:uc002mtu.3:exon4:c.T1442G:p.L481R, UNKNOWN Het;A>C 35;7|2 Ref Hom;A>C 467;0|11 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12542653 12542653 T G snp nonsynonymous SNV A333C K111N polar,hydrophilic,charged(+) polar,hydrophilic,neutral ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs4239550 0.390176 0.3368 0.3209 0.08 1 12 exonic exonic exonic ZNF443 ZNF443 ENSG00000180855 nonsynonymous SNV nonsynonymous SNV unknown ZNF443:NM_005815:exon4:c.A333C:p.K111N, ZNF443:uc002mtu.3:exon4:c.A333C:p.K111N, UNKNOWN Het;T>G 2053;62|54 Het;T>G 3475;80|91 Hom;T>G 7380;0|167 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12542654 12542654 T A snp nonsynonymous SNV A332T K111I polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs28599549 0.390176 0.3365 0.3208 0.08 1 12 exonic exonic exonic ZNF443 ZNF443 ENSG00000180855 nonsynonymous SNV nonsynonymous SNV unknown ZNF443:NM_005815:exon4:c.A332T:p.K111I, ZNF443:uc002mtu.3:exon4:c.A332T:p.K111I, UNKNOWN Het;T>A 2053;62|54 Het;T>A 3475;78|89 Hom;T>A 7380;0|164 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12543121 12543121 C G snp UTR3 *66G>C ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs74181652 0 0 0 1 0 0 intronic intronic UTR3 ZNF443 ZNF443 ENSG00000180855(ENST00000436821:c.*66G>C) Na Na Na Na Na Na Het;C>G 1212;57|53 Het;C>G 1302;63|61 Hom;C>G 3296;0|122 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12543251 12543251 A C snp nonsynonymous SNV T131G V44G aliphatic,hydrophobic,neutral aliphatic,neutral ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs62114866 0 0 0.2127 0.00 0 12 exonic exonic exonic ZNF443 ZNF443 ENSG00000180855 nonsynonymous SNV nonsynonymous SNV unknown ZNF443:NM_005815:exon3:c.T131G:p.V44G, ZNF443:uc002mtu.3:exon3:c.T131G:p.V44G, UNKNOWN Het;A>C 644;51|27 Het;A>C 488;77|28 Hom;A>C 1588;1|50 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12551671 12551671 G T snp intronic ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs11878378 0.371805 0.3092 0 1 0 0 intronic intronic intronic ZNF443 ZNF443 ENSG00000180855,ENSG00000268870,ENSG00000269755 Na Na Na Na Na Na Het;G>T 1854;76|50 Het;G>T 2252;52|57 Hom;G>T 6061;0|133 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12551674 12551674 C A snp intronic ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs11878523 0.332468 0.2687 0 1 0 0 intronic intronic intronic ZNF443 ZNF443 ENSG00000180855,ENSG00000268870,ENSG00000269755 Na Na Na Na Na Na Het;C>A 1851;77|51 Het;C>A 2255;51|59 Hom;C>A 6039;0|137 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12551789 12551789 A C snp UTR5 -61T>G ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs3745658 0.371805 0.3025 0 1 0 0 UTR5 UTR5 UTR5 ZNF443(NM_005815:c.-61T>G) ZNF443(uc002mtu.3:c.-61T>G) ENSG00000180855(ENST00000301547:c.-61T>G,ENST00000436821:c.-61T>G),ENSG00000268870(ENST00000595562:c.-61T>G) Na Na Na Na Na Na Het;A>C 1222;64|59 Het;A>C 1568;40|67 Hom;A>C 3026;2|113 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12551895 12551895 A T snp UTR5 -167T>A ZNF443 Zfp709 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 rs3745657 0.371605 0 0 1 0 0 UTR5 UTR5 UTR5 ZNF443(NM_005815:c.-167T>A) ZNF443(uc002mtu.3:c.-167T>A) ENSG00000180855(ENST00000301547:c.-167T>A),ENSG00000268870(ENST00000595562:c.-167T>A) Na Na Na Na Na Na Het;A>T 404;9|13 Het;A>T 381;8|13 Hom;A>T 571;0|16 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12763350 12763350 C CT indel intronic MAN2B1 Man2b1 ENSG00000104774 mannosidase alpha class 2B member 1 chr19:12757325-12777556 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] longevity Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1 https://www.uniprot.org/uniprot/O00754 https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609458 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1 rs71168621 0.359425 0 0 1 0 0 intronic intronic intronic MAN2B1 MAN2B1 ENSG00000104774 Na Na Na Na Na Na Het;+T 87;4|6 Het;+T 235;2|13 Hom;+T 312;1|16 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12773977 12773977 G A snp intronic MAN2B1 Man2b1 ENSG00000104774 mannosidase alpha class 2B member 1 chr19:12757325-12777556 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] longevity Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1 https://www.uniprot.org/uniprot/O00754 https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609458 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1 rs758857242 0 0 0 1 0 0 intronic intronic intronic MAN2B1 MAN2B1 ENSG00000104774 Na Na Na Na Na Na Het;G>A 121;9|5 Het;G>A 87;7|4 Hom;G>A 239;0|7 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12775577 12775577 G A snp intronic MAN2B1 Man2b1 ENSG00000104774 mannosidase alpha class 2B member 1 chr19:12757325-12777556 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] longevity Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1 https://www.uniprot.org/uniprot/O00754 https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609458 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1 rs144337367 0.00359425 0.0018 0.0052 1 0 0 intronic intronic intronic MAN2B1 MAN2B1 ENSG00000104774 Na Na Na Na Na Na Het;G>A 1107;55|53 Het;G>A 991;32|44 Hom;G>A 3475;0|123 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 12776768 12776772 CACAT C indel intronic MAN2B1 Man2b1 ENSG00000104774 mannosidase alpha class 2B member 1 chr19:12757325-12777556 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] longevity Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1 https://www.uniprot.org/uniprot/O00754 https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609458 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1 rs574127368 0.00359425 0 0 1 0 0 intronic intronic intronic MAN2B1 MAN2B1 ENSG00000104774,ENSG00000269590 Na Na Na Na Na Na Het;-ACAT 143;10|5 Het;-ACAT 194;7|6 Hom;-ACAT 188;0|5 N N - 19 1296091 1296091 C A snp intronic EFNA2 Efna2 ENSG00000099617 ephrin A2 chr19:1286153-1301430 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008] Homozgous null mice exhibit increased neural progenitor cell proliferation and abnormalities in sensory projections to the superior colliculus EPH-ephrin mediated repulsion of cells GO:0007267;cell-cell signaling;TAS|GO:0007411;axon guidance;IEA|GO:0021772;olfactory bulb development;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0046849;bone remodeling;IEA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043204;perikaryon;IEA GO:0046875;ephrin receptor binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/EFNA2 https://www.uniprot.org/uniprot/O43921 https://www.ncbi.nlm.nih.gov/omim/?term=602756 http://www.informatics.jax.org/searchtool/Search.do?query=EFNA2&submit=Quick%0D%2321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFNA2 rs34631609 0.129393 0 0 1 0 0 intronic intronic intronic EFNA2 EFNA2 ENSG00000099617,ENSG00000160953 Na Na Na Na Na Na Het;C>A 107;5|4 Ref Hom;C>A 227;0|9 N N - 19 1299955 1299955 G A snp UTR3 *11G>A EFNA2 Efna2 ENSG00000099617 ephrin A2 chr19:1286153-1301430 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008] Homozgous null mice exhibit increased neural progenitor cell proliferation and abnormalities in sensory projections to the superior colliculus EPH-ephrin mediated repulsion of cells GO:0007267;cell-cell signaling;TAS|GO:0007411;axon guidance;IEA|GO:0021772;olfactory bulb development;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0046849;bone remodeling;IEA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043204;perikaryon;IEA GO:0046875;ephrin receptor binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/EFNA2 https://www.uniprot.org/uniprot/O43921 https://www.ncbi.nlm.nih.gov/omim/?term=602756 http://www.informatics.jax.org/searchtool/Search.do?query=EFNA2&submit=Quick%0D%2321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFNA2 rs57847680 0.111821 0.1494 0.1671 1 0 0 UTR3 UTR3 UTR3 EFNA2(NM_001405:c.*11G>A) EFNA2(uc002lry.2:c.*11G>A) ENSG00000099617(ENST00000215368:c.*11G>A) Na Na Na Na Na Na Het;G>A 2573;117|111 Ref Hom;G>A 4688;0|170 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 13339417 13339421 GAGAT G indel intronic CACNA1A Cacna1a ENSG00000141837 calcium voltage-gated channel subunit alpha1 A chr19:13317256-13734804 Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] spinocerebellar ataxia type 6; epilepsy; Parkinson's disease ; Cerebellar Ataxia|; Parkinson's disease; episodic ataxia type 2; Spinocerebellar Ataxias; cluster headache; Tobacco Use Disorder; Ataxia; Migraine with Aura; cerebellar ataxia; Genomic Instability|Spinocerebellar Ataxias; Alzheimer's disease ; Migraine with Aura|Migraine without Aura; migraine; ataxia (SCA); spinocerebellar ataxia; restless legs syndrome; migraine, hemiplegic; schizophrenia; Hemiplegia|Migraine Disorders Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. Regulation of insulin secretion GO:0001505;regulation of neurotransmitter levels;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007270;neuron-neuron synaptic transmission;IEA|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0007416;synapse assembly;IEA|GO:0007628;adult walking behavior;IEA|GO:0008219;cell death;IDA|GO:0010817;regulation of hormone levels;IEA|GO:0014051;gamma-aminobutyric acid secretion;IEA|GO:0014056;regulation of acetylcholine secretion, neurotransmission;IEA|GO:0016049;cell growth;IEA|GO:0017156;calcium ion regulated exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IEA|GO:0019226;transmission of nerve impulse;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021590;cerebellum maturation;IEA|GO:0021679;cerebellar molecular layer development;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0021750;vestibular nucleus development;IEA|GO:0021953;central nervous system neuron differentiation;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031335;regulation of sulfur amino acid metabolic process;IEA|GO:0032353;negative regulation of hormone biosynthetic process;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043113;receptor clustering;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IEA|GO:0050883;musculoskeletal movement, spinal reflex action;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050905;neuromuscular process;IEA|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0060024;rhythmic synaptic transmission;IEA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086010;membrane depolarization during action potential;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0019905;syntaxin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1A https://www.uniprot.org/uniprot/O00555 https://hpo.jax.org/app/browse/search?q=CACNA1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601011 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1A&submit=Quick%0D%8225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1A rs36088930 0 0 0 1 0 0 intronic intronic intronic CACNA1A CACNA1A ENSG00000141837 Na Na Na Na Na Na Het;-AGAT 285;21|12 Het;-AGAT 527;3|20 Hom;-AGAT 300;1|8 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 13364012 13364012 C T snp intronic CACNA1A Cacna1a ENSG00000141837 calcium voltage-gated channel subunit alpha1 A chr19:13317256-13734804 Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] spinocerebellar ataxia type 6; epilepsy; Parkinson's disease ; Cerebellar Ataxia|; Parkinson's disease; episodic ataxia type 2; Spinocerebellar Ataxias; cluster headache; Tobacco Use Disorder; Ataxia; Migraine with Aura; cerebellar ataxia; Genomic Instability|Spinocerebellar Ataxias; Alzheimer's disease ; Migraine with Aura|Migraine without Aura; migraine; ataxia (SCA); spinocerebellar ataxia; restless legs syndrome; migraine, hemiplegic; schizophrenia; Hemiplegia|Migraine Disorders Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. Regulation of insulin secretion GO:0001505;regulation of neurotransmitter levels;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007270;neuron-neuron synaptic transmission;IEA|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0007416;synapse assembly;IEA|GO:0007628;adult walking behavior;IEA|GO:0008219;cell death;IDA|GO:0010817;regulation of hormone levels;IEA|GO:0014051;gamma-aminobutyric acid secretion;IEA|GO:0014056;regulation of acetylcholine secretion, neurotransmission;IEA|GO:0016049;cell growth;IEA|GO:0017156;calcium ion regulated exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IEA|GO:0019226;transmission of nerve impulse;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021590;cerebellum maturation;IEA|GO:0021679;cerebellar molecular layer development;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0021750;vestibular nucleus development;IEA|GO:0021953;central nervous system neuron differentiation;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031335;regulation of sulfur amino acid metabolic process;IEA|GO:0032353;negative regulation of hormone biosynthetic process;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043113;receptor clustering;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IEA|GO:0050883;musculoskeletal movement, spinal reflex action;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050905;neuromuscular process;IEA|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0060024;rhythmic synaptic transmission;IEA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086010;membrane depolarization during action potential;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0019905;syntaxin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1A https://www.uniprot.org/uniprot/O00555 https://hpo.jax.org/app/browse/search?q=CACNA1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601011 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1A&submit=Quick%0D%8225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1A rs8103699 0.169129 0 0 1 0 0 intronic intronic intronic CACNA1A CACNA1A ENSG00000141837 Na Na Na Na Na Na Het;C>T 398;18|19 Het;C>T 139;7|7 Hom;C>T 678;0|21 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 13396110 13396110 C T snp intronic CACNA1A Cacna1a ENSG00000141837 calcium voltage-gated channel subunit alpha1 A chr19:13317256-13734804 Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] spinocerebellar ataxia type 6; epilepsy; Parkinson's disease ; Cerebellar Ataxia|; Parkinson's disease; episodic ataxia type 2; Spinocerebellar Ataxias; cluster headache; Tobacco Use Disorder; Ataxia; Migraine with Aura; cerebellar ataxia; Genomic Instability|Spinocerebellar Ataxias; Alzheimer's disease ; Migraine with Aura|Migraine without Aura; migraine; ataxia (SCA); spinocerebellar ataxia; restless legs syndrome; migraine, hemiplegic; schizophrenia; Hemiplegia|Migraine Disorders Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. Regulation of insulin secretion GO:0001505;regulation of neurotransmitter levels;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007270;neuron-neuron synaptic transmission;IEA|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0007416;synapse assembly;IEA|GO:0007628;adult walking behavior;IEA|GO:0008219;cell death;IDA|GO:0010817;regulation of hormone levels;IEA|GO:0014051;gamma-aminobutyric acid secretion;IEA|GO:0014056;regulation of acetylcholine secretion, neurotransmission;IEA|GO:0016049;cell growth;IEA|GO:0017156;calcium ion regulated exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IEA|GO:0019226;transmission of nerve impulse;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021590;cerebellum maturation;IEA|GO:0021679;cerebellar molecular layer development;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0021750;vestibular nucleus development;IEA|GO:0021953;central nervous system neuron differentiation;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031335;regulation of sulfur amino acid metabolic process;IEA|GO:0032353;negative regulation of hormone biosynthetic process;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043113;receptor clustering;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IEA|GO:0050883;musculoskeletal movement, spinal reflex action;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050905;neuromuscular process;IEA|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0060024;rhythmic synaptic transmission;IEA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086010;membrane depolarization during action potential;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0019905;syntaxin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1A https://www.uniprot.org/uniprot/O00555 https://hpo.jax.org/app/browse/search?q=CACNA1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601011 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1A&submit=Quick%0D%8225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1A rs3764580 0.189097 0 0 1 0 0 intronic intronic intronic CACNA1A CACNA1A ENSG00000141837 Na Na Na Na Na Na Het;C>T 463;12|18 Het;C>T 317;18|13 Hom;C>T 618;0|20 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 13440985 13440985 C CT indel intronic CACNA1A Cacna1a ENSG00000141837 calcium voltage-gated channel subunit alpha1 A chr19:13317256-13734804 Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] spinocerebellar ataxia type 6; epilepsy; Parkinson's disease ; Cerebellar Ataxia|; Parkinson's disease; episodic ataxia type 2; Spinocerebellar Ataxias; cluster headache; Tobacco Use Disorder; Ataxia; Migraine with Aura; cerebellar ataxia; Genomic Instability|Spinocerebellar Ataxias; Alzheimer's disease ; Migraine with Aura|Migraine without Aura; migraine; ataxia (SCA); spinocerebellar ataxia; restless legs syndrome; migraine, hemiplegic; schizophrenia; Hemiplegia|Migraine Disorders Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. Regulation of insulin secretion GO:0001505;regulation of neurotransmitter levels;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007270;neuron-neuron synaptic transmission;IEA|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0007416;synapse assembly;IEA|GO:0007628;adult walking behavior;IEA|GO:0008219;cell death;IDA|GO:0010817;regulation of hormone levels;IEA|GO:0014051;gamma-aminobutyric acid secretion;IEA|GO:0014056;regulation of acetylcholine secretion, neurotransmission;IEA|GO:0016049;cell growth;IEA|GO:0017156;calcium ion regulated exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IEA|GO:0019226;transmission of nerve impulse;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021590;cerebellum maturation;IEA|GO:0021679;cerebellar molecular layer development;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0021750;vestibular nucleus development;IEA|GO:0021953;central nervous system neuron differentiation;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031335;regulation of sulfur amino acid metabolic process;IEA|GO:0032353;negative regulation of hormone biosynthetic process;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043113;receptor clustering;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IEA|GO:0050883;musculoskeletal movement, spinal reflex action;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050905;neuromuscular process;IEA|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0060024;rhythmic synaptic transmission;IEA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086010;membrane depolarization during action potential;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0019905;syntaxin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1A https://www.uniprot.org/uniprot/O00555 https://hpo.jax.org/app/browse/search?q=CACNA1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601011 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1A&submit=Quick%0D%8225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1A rs3834988 0.263778 0 0 1 0 0 intronic intronic intronic CACNA1A CACNA1A ENSG00000141837 Na Na Na Na Na Na Het;+T 114;7|5 Ref Hom;+T 176;0|6 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14040896 14040896 G A snp nonsynonymous SNV G2716A A906T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CC2D1A Cc2d1a ENSG00000132024 coiled-coil and C2 domain containing 1A chr19:14017014-14041692 This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] Macular Degeneration Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CC2D1A https://www.uniprot.org/uniprot/Q6P1N0 https://hpo.jax.org/app/browse/search?q=CC2D1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610055 http://www.informatics.jax.org/searchtool/Search.do?query=CC2D1A&submit=Quick%0D%6621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D1A rs11669628 0.133187 0.0959 0.1385 0.08 1 13 exonic exonic exonic CC2D1A CC2D1A ENSG00000132024 nonsynonymous SNV nonsynonymous SNV unknown CC2D1A:NM_017721:exon27:c.G2716A:p.A906T, CC2D1A:uc002mxo.2:exon27:c.G2716A:p.A906T,CC2D1A:uc010dzh.2:exon22:c.G1423A:p.A475T,CC2D1A:uc002mxp.2:exon27:c.G2713A:p.A905T, UNKNOWN Het;G>A 619;32|27 Het;G>A 963;18|39 Hom;G>A 1575;0|59 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14045033 14045033 G A snp intronic PODNL1 Podnl1 ENSG00000132000 podocan like 1 chr19:14042000-14064204 GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005737;cytoplasm;IBA|GO:0031012;extracellular matrix;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PODNL1 https://www.uniprot.org/uniprot/Q6PEZ8 http://www.informatics.jax.org/searchtool/Search.do?query=PODNL1&submit=Quick%0D%6613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODNL1 rs2305779 0.135982 0.0873 0.1539 1 0 0 intronic intronic intronic PODNL1 PODNL1 ENSG00000132000 Na Na Na Na Na Na Het;G>A 472;24|23 Het;G>A 223;22|12 Hom;G>A 1183;0|42 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14045339 14045339 T C snp intronic PODNL1 Podnl1 ENSG00000132000 podocan like 1 chr19:14042000-14064204 GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005737;cytoplasm;IBA|GO:0031012;extracellular matrix;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PODNL1 https://www.uniprot.org/uniprot/Q6PEZ8 http://www.informatics.jax.org/searchtool/Search.do?query=PODNL1&submit=Quick%0D%6613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODNL1 rs56801401 0.209065 0 0 1 0 0 intronic intronic intronic PODNL1 PODNL1 ENSG00000132000 Na Na Na Na Na Na Het;T>C 258;17|13 Het;T>C 458;6|17 Hom;T>C 378;2|16 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14063806 14063806 T C snp intronic DCAF15 Dcaf15 ENSG00000132017 DDB1 and CUL4 associated factor 15 chr19:14063304-14072254 GO:0016567;protein ubiquitination;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCAF15 https://www.uniprot.org/uniprot/Q66K64 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF15&submit=Quick%0D%6620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF15 rs67764456 0.135583 0 0.1759 1 0 0 intronic intronic intronic DCAF15,PODNL1 DCAF15,PODNL1 ENSG00000132000,ENSG00000132017 Na Na Na Na Na Na Het;T>C 318;24|16 Het;T>C 175;12|8 Hom;T>C 532;0|16 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14069830 14069830 C T snp intronic DCAF15 Dcaf15 ENSG00000132017 DDB1 and CUL4 associated factor 15 chr19:14063304-14072254 GO:0016567;protein ubiquitination;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCAF15 https://www.uniprot.org/uniprot/Q66K64 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF15&submit=Quick%0D%6620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF15 rs139192817 0.0141773 0.0108 0.0123 1 0 0 intronic intronic intronic DCAF15 DCAF15 ENSG00000132017 Na Na Na Na Na Na Het;C>T 395;30|20 Het;C>T 344;28|16 Hom;C>T 1154;0|45 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14153293 14153293 T C snp nonsynonymous SNV T563C L188P aliphatic,hydrophobic,neutral hydrophobic,neutral IL27RA Il27ra ENSG00000104998 interleukin 27 receptor subunit alpha chr19:14142560-14163743 In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008] Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections T helper 1 response and responses to parasitic and bacterial infection are altered in homozygous mutant mice. Interleukin-12 family signaling GO:0002827;positive regulation of T-helper 1 type immune response;IEA|GO:0002829;negative regulation of type 2 immune response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0048302;regulation of isotype switching to IgG isotypes;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0070106;interleukin-27-mediated signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;TAS|GO:0045509;interleukin-27 receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/IL27RA https://www.uniprot.org/uniprot/Q6UWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605350 http://www.informatics.jax.org/searchtool/Search.do?query=IL27RA&submit=Quick%0D%3224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL27RA rs35026308 0.141773 0.1382 0.1625 0.23 3 13 exonic exonic exonic IL27RA IL27RA ENSG00000104998 nonsynonymous SNV nonsynonymous SNV unknown IL27RA:NM_004843:exon5:c.T563C:p.L188P, IL27RA:uc002mxx.4:exon5:c.T563C:p.L188P, UNKNOWN Het;T>C 2537;135|123 Het;T>C 2061;110|101 Hom;T>C 5920;0|225 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14231256 14231256 T C snp UTR3 *15A>G ASF1B Asf1b ENSG00000105011 anti-silencing function 1B histone chaperone chr19:14230321-14247768 This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mutant mice are viable and fertile and exhibit no overt abnormal phenotype. GO:0006333;chromatin assembly or disassembly;IEA|GO:0006334;nucleosome assembly;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASF1B https://www.uniprot.org/uniprot/Q9NVP2 https://www.ncbi.nlm.nih.gov/omim/?term=609190 http://www.informatics.jax.org/searchtool/Search.do?query=ASF1B&submit=Quick%0D%3225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASF1B rs3745463 0.122404 0.0925 0.1303 1 0 0 UTR3 UTR3 UTR3 ASF1B(NM_018154:c.*15A>G) ASF1B(uc002mye.3:c.*15A>G) ENSG00000105011(ENST00000263382:c.*15A>G,ENST00000592798:c.*15A>G) Na Na Na Na Na Na Het;T>C 747;44|32 Het;T>C 903;23|35 Hom;T>C 2502;0|84 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14552325 14552325 C G snp intronic PKN1 Pkn1 ENSG00000123143 protein kinase N1 chr19:14543865-14582679 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygotes for a null allele show spontaneous germinal center formation and autoantibody production and develop glomerulonephritis. Homozygotes for a different null allele have mild systolic and diastolic dysfunction, and show increased myocardial infarction size after ischemia-reperfusion injury. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001782;B cell homeostasis;IEA|GO:0001783;B cell apoptotic process;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0002634;regulation of germinal center formation;IEA|GO:0002637;regulation of immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006468;protein phosphorylation;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006972;hyperosmotic response;IEA|GO:0007165;signal transduction;TAS|GO:0007257;activation of JUN kinase activity;TAS|GO:0010631;epithelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030889;negative regulation of B cell proliferation;IEA|GO:0035407;histone H3-T11 phosphorylation;IDA|GO:0048536;spleen development;IEA|GO:2000145;regulation of cell motility;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0043234;protein complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017049;GTP-Rho binding;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0035402;histone kinase activity (H3-T11 specific);IDA|GO:0042393;histone binding;IDA|GO:0042826;histone deacetylase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0050681;androgen receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PKN1 https://www.uniprot.org/uniprot/Q16512 https://www.ncbi.nlm.nih.gov/omim/?term=601032 http://www.informatics.jax.org/searchtool/Search.do?query=PKN1&submit=Quick%0D%5491ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKN1 rs2241366 0.203075 0 0 1 0 0 intronic intronic intronic PKN1 PKN1 ENSG00000123143 Na Na Na Na Na Na Het;C>G 492;18|19 Het;C>G 465;34|25 Hom;C>G 719;2|29 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14655812 14655812 T C snp intronic TECR Tecr ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR rs73002853 0.197484 0 0 1 0 0 intronic intronic intronic TECR TECR ENSG00000099797 Na Na Na Na Na Na Het;T>C 233;12|9 Ref Hom;T>C 483;0|13 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14656131 14656131 G A snp intronic TECR Tecr ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR rs10406927 0.252396 0 0 1 0 0 intronic intronic intronic TECR TECR ENSG00000099797 Na Na Na Na Na Na Het;G>A 201;9|8 Ref Hom;G>A 152;0|5 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14673828 14673828 C T snp intronic TECR Tecr ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR rs4926135 0.295927 0 0 1 0 0 intronic intronic intronic TECR TECR ENSG00000099797 Na Na Na Na Na Na Het;C>T 393;11|13 Het;C>T 161;9|6 Hom;C>T 311;0|10 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14674235 14674235 C T snp intronic TECR Tecr ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR rs891089 0.544329 0 0 1 0 0 intronic intronic intronic TECR TECR ENSG00000099797 Na Na Na Na Na Na Het;C>T 126;8|6 Het;C>T 350;5|11 Hom;C>T 317;0|9 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14675207 14675207 A G snp intronic TECR Tecr ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR rs112667995 0.298922 0 0 1 0 0 intronic intronic intronic TECR TECR ENSG00000099797 Na Na Na Na Na Na Het;A>G 230;7|9 Het;A>G 69;4|3 Hom;A>G 507;0|16 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14676172 14676172 T A snp intronic TECR Tecr ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR rs12976927 0.544928 0 0 1 0 0 intronic intronic intronic TECR TECR ENSG00000099797 Na Na Na Na Na Na Het;T>A 814;38|29 Het;T>A 530;26|20 Hom;T>A 1767;0|51 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14682804 14682804 G C snp synonymous SNV C9G A3A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NDUFB7 Ndufb7 ENSG00000099795 NADH:ubiquinone oxidoreductase subunit B7 chr19:14676890-14682874 The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] drug-related genes ; cognitive trait; HIV Infections|[X]Human immunodeficiency virus disease; Aging/ Telomere Length; Acquired Immunodeficiency Syndrome|Disease Progression Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0016020;membrane;IEA|GO:0070469;respiratory chain;IEA GO:0003954;NADH dehydrogenase activity;IEA|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFB7 https://www.uniprot.org/uniprot/P17568 https://www.ncbi.nlm.nih.gov/omim/?term=603842 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB7&submit=Quick%0D%2330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB7 rs9543 0.541134 0.6022 0.5642 1 0 0 exonic exonic exonic NDUFB7 NDUFB7 ENSG00000099795 synonymous SNV synonymous SNV unknown NDUFB7:NM_004146:exon1:c.C9G:p.A3A, NDUFB7:uc002mzg.3:exon1:c.C9G:p.A3A, UNKNOWN Het;G>C 1564;54|74 Het;G>C 1429;52|66 Hom;G>C 4118;0|151 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14800922 14800922 T C snp UTR5 -3382T>C ZNF333 ENSG00000160961 zinc finger protein 333 chr19:14800613-14844558 Depressive Disorder, Major Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF333 https://www.ncbi.nlm.nih.gov/omim/?term=611811 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF333&submit=Quick%0D%10538ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF333 rs4808304 0.804513 0 0 1 0 0 UTR5 UTR5 UTR5 ZNF333(NM_001300912:c.-3382T>C,NM_032433:c.-3382T>C) ZNF333(uc002mzl.3:c.-3382T>C,uc002mzn.3:c.-3382T>C) ENSG00000160961(ENST00000597007:c.-3382T>C,ENST00000540689:c.-3382T>C,ENST00000601134:c.-3382T>C,ENST00000292530:c.-3382T>C) Na Na Na Na Na Na Het;T>C 122;2|4 Ref Hom;T>C 114;0|5 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14857891 14857891 A G snp intronic ADGRE2 rs10403842 0.495008 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;A>G 42;3|2 Het;A>G 161;2|5 Hom;A>G 157;0|6 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14862430 14862430 C G snp nonsynonymous SNV G1842C L614F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral EMR2 rs2524383 0.816494 0.7703 0.7371 0.17 2 12 exonic exonic exonic ADGRE2 EMR2 ENSG00000127507 nonsynonymous SNV nonsynonymous SNV unknown ADGRE2:NM_013447:exon16:c.G1842C:p.L614F,ADGRE2:NM_001271052:exon14:c.G1668C:p.L556F, EMR2:uc002mzp.2:exon16:c.G1842C:p.L614F,EMR2:uc031rjt.1:exon15:c.G1842C:p.L614F,EMR2:uc031rju.1:exon15:c.G1809C:p.L603F,EMR2:uc010xnw.2:exon14:c.G1668C:p.L556F,EMR2:uc010dzs.2:exon6:c.G219C:p.L73F,EMR2:uc010xnx.2:exon10:c.G273C:p.L91F,EMR2:uc031rjs.1:exon10:c.G1026C:p.L342F, UNKNOWN Het;C>G 2524;123|102 Het;C>G 1891;107|78 Hom;C>G 5307;0|197 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14862517 14862517 A G snp intronic ADGRE2 rs3752189 0.494209 0 0.3649 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;A>G 1935;45|78 Het;A>G 1033;50|44 Hom;A>G 2529;1|90 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14865684 14865684 A AT indel intronic ADGRE2 rs34312411 0.500599 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;+T 144;10|8 Ref Hom;+T 645;0|23 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14865704 14865704 C T snp intronic ADGRE2 rs2058107 0.784744 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;C>T 366;16|15 Het;C>T 153;6|7 Hom;C>T 851;0|30 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14866698 14866698 C T snp intronic ADGRE2 rs28420691 0.542532 0.4336 0.4348 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;C>T 820;17|34 Het;C>T 399;25|18 Hom;C>T 844;0|30 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14866974 14866974 T C snp intronic ADGRE2 rs2253472 0.807508 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;T>C 395;20|18 Het;T>C 255;14|11 Hom;T>C 920;0|29 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14867186 14867186 G A snp intronic ADGRE2 rs2524386 0.79353 0.7488 0.7327 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;G>A 526;83|29 Het;G>A 531;74|32 Hom;G>A 2339;0|88 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14883330 14883330 A G snp intronic ADGRE2 rs2302089 0.0772764 0.0660 0.0465 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;A>G 1190;60|49 Het;A>G 1068;43|46 Hom;A>G 2212;0|76 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14884570 14884570 C T snp intronic ADGRE2 rs151047685 0.0597045 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;C>T 40;3|2 Ref Hom;C>T 96;0|3 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14884642 14884642 T C snp intronic ADGRE2 rs140982443 0.0894569 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;T>C 353;20|13 Het;T>C 93;14|5 Hom;T>C 466;0|12 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14884651 14884651 T TAAGG indel intronic ADGRE2 rs146246294 0.0898562 0 0 1 0 0 intronic intronic intronic ADGRE2 EMR2 ENSG00000127507 Na Na Na Na Na Na Het;+AAGG 434;25|13 Het;+AAGG 271;15|6 Hom;+AAGG 817;0|17 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14884751 14884751 G A snp synonymous SNV C198T D66D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ADGRE2 rs78992533 0.0886581 0.0627 0.0604 1 0 0 exonic exonic exonic ADGRE2 EMR2 ENSG00000127507 synonymous SNV synonymous SNV unknown ADGRE2:NM_013447:exon4:c.C198T:p.D66D,ADGRE2:NM_001271052:exon3:c.C198T:p.D66D, EMR2:uc002mzp.2:exon4:c.C198T:p.D66D,EMR2:uc031rjt.1:exon3:c.C198T:p.D66D,EMR2:uc031rju.1:exon3:c.C198T:p.D66D,EMR2:uc010xnw.2:exon3:c.C198T:p.D66D, UNKNOWN Het;G>A 1294;99|62 Het;G>A 1349;109|69 Hom;G>A 3354;0|127 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14884841 14884841 G A snp synonymous SNV C108T D36D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ADGRE2 rs41360944 0.0924521 0.0630 0.0618 1 0 0 exonic exonic exonic ADGRE2 EMR2 ENSG00000127507 synonymous SNV synonymous SNV unknown ADGRE2:NM_013447:exon4:c.C108T:p.D36D,ADGRE2:NM_001271052:exon3:c.C108T:p.D36D, EMR2:uc002mzp.2:exon4:c.C108T:p.D36D,EMR2:uc031rjt.1:exon3:c.C108T:p.D36D,EMR2:uc031rju.1:exon3:c.C108T:p.D36D,EMR2:uc010xnw.2:exon3:c.C108T:p.D36D, UNKNOWN Het;G>A 2243;112|111 Het;G>A 1716;88|91 Hom;G>A 3937;0|149 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14887596 14887596 A G snp UTR5 -28T>C ADGRE2 rs2286362 0.128195 0.1257 0.1483 1 0 0 UTR5 UTR5 UTR5 ADGRE2(NM_001271052:c.-28T>C,NM_013447:c.-28T>C) EMR2(uc010xnw.2:c.-28T>C,uc031rjt.1:c.-28T>C,uc002mzp.2:c.-28T>C,uc031rju.1:c.-28T>C) ENSG00000127507(ENST00000353005:c.-28T>C,ENST00000353876:c.-28T>C,ENST00000346057:c.-28T>C,ENST00000392967:c.-28T>C,ENST00000315576:c.-28T>C,ENST00000392965:c.-28T>C,ENST00000601345:c.-28T>C,ENST00000392962:c.-28T>C) Na Na Na Na Na Na Het;A>G 1402;43|62 Het;A>G 614;38|32 Hom;A>G 3693;0|136 N N - 19 1489770 1489770 T G snp intronic PCSK4 Pcsk4 ENSG00000115257 proprotein convertase subtilisin/kexin type 4 chr19:1481427-1490751 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014] Type 2 Diabetes| edema | rosiglitazone Inactivation of this locus results in significantly reduced male fertility, putatively due to impaired fertilization. GO:0006508;proteolysis;IEA|GO:0007339;binding of sperm to zona pellucida;ISS|GO:0007340;acrosome reaction;ISS|GO:0009566;fertilization;ISS|GO:0016485;protein processing;IDA|GO:0022414;reproductive process;ISS|GO:0048240;sperm capacitation;ISS GO:0001669;acrosomal vesicle;ISS|GO:0002080;acrosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCSK4 https://www.uniprot.org/uniprot/Q6UW60 https://www.ncbi.nlm.nih.gov/omim/?term=600487 http://www.informatics.jax.org/searchtool/Search.do?query=PCSK4&submit=Quick%0D%4567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK4 rs791468 0.489018 0.4147 0.4547 1 0 0 intronic intronic intronic PCSK4 PCSK4 ENSG00000115257 Na Na Na Na Na Na Het;T>G 394;26|20 Ref Hom;T>G 1119;0|43 N N - 19 1491171 1491171 T G snp UTR5 -98T>G REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs791473 0.478235 0 0.5278 1 0 0 UTR5 UTR5 UTR5 REEP6(NM_138393:c.-98T>G) REEP6(uc010xgp.2:c.-98T>G,uc002ltc.3:c.-98T>G) ENSG00000115255(ENST00000233596:c.-98T>G) Na Na Na Na Na Na Het;T>G 384;20|14 Ref Hom;T>G 824;0|26 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14938616 14938616 T C snp synonymous SNV A438G L146L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR7A5 Olfr57 ENSG00000188269 olfactory receptor family 7 subfamily A member 5 chr19:14903302-14946188 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/OR7A5 http://www.informatics.jax.org/searchtool/Search.do?query=OR7A5&submit=Quick%0D%15999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7A5 rs2190686 0.559105 0.4692 0.4685 1 0 0 exonic exonic exonic OR7A5 OR7A5 ENSG00000188269 synonymous SNV synonymous SNV unknown OR7A5:NM_017506:exon1:c.A438G:p.L146L, OR7A5:uc002mzw.3:exon1:c.A438G:p.L146L,OR7A5:uc010xoa.2:exon2:c.A438G:p.L146L, UNKNOWN Het;T>C 738;39|32 Het;T>C 890;54|42 Hom;T>C 2024;0|75 N N - 19 1495277 1495277 C T snp intronic REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs12459408 0.328275 0.2701 0.3019 1 0 0 intronic intronic intronic REEP6 REEP6 ENSG00000115255 Na Na Na Na Na Na Het;C>T 1415;46|63 Ref Hom;C>T 3352;1|117 N N - 19 1495634 1495634 G A snp nonsynonymous SNV G376A V126M aliphatic,hydrophobic,neutral hydrophobic,neutral REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs2277748 0.416534 0.3837 0.3617 1 0 0 intronic exonic intronic REEP6 REEP6 ENSG00000115255 Na nonsynonymous SNV Na Na REEP6:uc010xgp.2:exon3:c.G376A:p.V126M, Na Het;G>A 1380;93|65 Ref Hom;G>A 3155;0|120 N N - 19 1496153 1496153 C T snp UTR3 *439C>T REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs2656886 0.449081 0 0 1 0 0 intronic UTR3 intronic REEP6 REEP6(uc010xgp.2:c.*439C>T) ENSG00000115255 Na Na Na Na Na Na Het;C>T 76;3|4 Ref Hom;C>T 168;0|5 N N - 19 1496263 1496263 A G snp intronic REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs2244686 0.428514 0.3989 0.3714 1 0 0 intronic intronic intronic REEP6 REEP6 ENSG00000115255 Na Na Na Na Na Na Het;A>G 831;30|34 Ref Hom;A>G 1196;0|44 N N - 19 1496716 1496718 TGC T indel intronic REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs34524945 0 0.2802 0.3223 1 0 0 intronic intronic intronic REEP6 REEP6 ENSG00000115255 Na Na Na Na Na Na Het;-GC 709;34|36 Ref Hom;-GC 1438;7|63 N N - 19 1497060 1497060 C T snp intronic REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs2244794 0.46266 0 0 1 0 0 intronic intronic intronic REEP6 REEP6 ENSG00000115255 Na Na Na Na Na Na Het;C>T 55;11|3 Ref Hom;C>T 591;0|21 N N - 19 1497121 1497121 G T snp intronic REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs2244801 0.461062 0.4224 0 1 0 0 intronic intronic intronic REEP6 REEP6 ENSG00000115255 Na Na Na Na Na Na Het;G>T 437;15|21 Ref Hom;G>T 1344;0|52 N N - 19 1497144 1497144 C T snp intronic REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs2292456 0.287141 0.2309 0.3297 1 0 0 intronic intronic intronic REEP6 REEP6 ENSG00000115255 Na Na Na Na Na Na Het;C>T 478;16|23 Ref Hom;C>T 1456;0|56 N N - 19 1497543 1497543 A G snp UTR3 *333A>G REEP6 Reep6 ENSG00000115255 receptor accessory protein 6 chr19:1491165-1497926 Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. Olfactory Signaling Pathway GO:0008150;biological_process;ND|GO:0032386;regulation of intracellular transport;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0001917;photoreceptor inner segment;IDA|GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044317;rod spherule;IEA|GO:0045177;apical part of cell;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/REEP6 https://www.uniprot.org/uniprot/Q96HR9 https://hpo.jax.org/app/browse/search?q=REEP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609346 http://www.informatics.jax.org/searchtool/Search.do?query=REEP6&submit=Quick%0D%4566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REEP6 rs1050017 0.475839 0 0.3984 1 0 0 UTR3 UTR3 UTR3 REEP6(NM_138393:c.*333A>G) REEP6(uc002ltc.3:c.*333A>G) ENSG00000115255(ENST00000233596:c.*333A>G) Na Na Na Na Na Na Het;A>G 136;13|8 Ref Hom;A>G 894;0|27 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 14991507 14991507 T C snp nonsynonymous SNV A661G I221V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR7A17 Olfr19 ENSG00000185385 olfactory receptor family 7 subfamily A member 17 chr19:14991138-14992264 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7A17 http://www.informatics.jax.org/searchtool/Search.do?query=OR7A17&submit=Quick%0D%15408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7A17 rs112660270 0.000399361 0.0003 0.0007 0.50 6 12 exonic exonic exonic OR7A17 OR7A17 ENSG00000185385 nonsynonymous SNV nonsynonymous SNV unknown OR7A17:NM_030901:exon1:c.A661G:p.I221V, OR7A17:uc010xob.2:exon1:c.A661G:p.I221V, UNKNOWN Het;T>C 92;8|4 Het;T>C 292;8|9 Hom;T>C 177;0|5 N N - 19 1506710 1506711 TC T indel intronic ADAMTSL5 Adamtsl5 ENSG00000185761 ADAMTS like 5 chr19:1505017-1513603 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL5 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL5&submit=Quick%0D%15485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL5 rs3215149 0.333866 0.3209 0.4271 1 0 0 intronic intronic intronic ADAMTSL5 ADAMTSL5 ENSG00000185761 Na Na Na Na Na Na Het;-C 502;19|20 Ref Hom;-C 1342;0|43 N N - 19 1507710 1507710 T A snp intronic ADAMTSL5 Adamtsl5 ENSG00000185761 ADAMTS like 5 chr19:1505017-1513603 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL5 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL5&submit=Quick%0D%15485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL5 rs791462 0.462061 0 0 1 0 0 intronic intronic intronic ADAMTSL5 ADAMTSL5 ENSG00000185761 Na Na Na Na Na Na Het;T>A 174;14|9 Ref Hom;T>A 438;0|14 N N - 19 15166762 15166762 G T snp intronic CASP14 Casp14 ENSG00000105141 caspase 14 chr19:15160195-15169104 This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008] breast cancer colorectal cancer liver cancer lung cancer stomach cancer; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; Gastrointestinal Stromal Tumors; benzene haematotoxicity Mice homozygous for a null allele exhibit impaired skin barrier function, skin dehydration and increased damage in response to UVB irradiation. Formation of the cornified envelope GO:0006508;proteolysis;IEA|GO:0008544;epidermis development;TAS|GO:0030154;cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS|GO:0097194;execution phase of apoptosis;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031012;extracellular matrix;IDA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0004175;endopeptidase activity;TAS|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0097200;cysteine-type endopeptidase activity involved in execution phase of apoptosis;IBA http://www.genecards.org/index.php?path=/Search/keyword/CASP14 https://www.uniprot.org/uniprot/P31944 https://hpo.jax.org/app/browse/search?q=CASP14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605848 http://www.informatics.jax.org/searchtool/Search.do?query=CASP14&submit=Quick%0D%3239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CASP14 rs73518121 0.0932508 0.1237 0.1179 1 0 0 intronic intronic intronic CASP14 CASP14 ENSG00000105141 Na Na Na Na Na Na Het;G>T 629;17|25 Het;G>T 832;23|34 Hom;G>T 1261;0|45 N N - 19 15230654 15230654 G A snp intronic ILVBL Ilvbl ENSG00000105135 ilvB acetolactate synthase like chr19:15225795-15236596 The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008] GO:0008150;biological_process;ND GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0000287;magnesium ion binding;IEA|GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0030976;thiamine pyrophosphate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ILVBL https://www.uniprot.org/uniprot/A1L0T0 https://www.ncbi.nlm.nih.gov/omim/?term=605770 http://www.informatics.jax.org/searchtool/Search.do?query=ILVBL&submit=Quick%0D%3236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ILVBL rs2074264 0.507788 0 0 1 0 0 intronic intronic intronic ILVBL ILVBL ENSG00000105135 Na Na Na Na Na Na Het;G>A 34;3|2 Ref Hom;G>A 126;0|4 N N - 19 15541091 15541091 A C snp intronic WIZ Wiz ENSG00000011451 widely interspaced zinc finger motifs chr19:15532319-15560762 Homozygous mutant mice die prenatally. GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0050821;protein stabilization;IMP|GO:0070208;protein heterotrimerization;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070984;SET domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WIZ https://www.uniprot.org/uniprot/O95785 http://www.informatics.jax.org/searchtool/Search.do?query=WIZ&submit=Quick%0D%560ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WIZ rs4809192 0.825679 0 0 1 0 0 intronic intronic intronic WIZ WIZ ENSG00000011451 Na Na Na Na Na Na Het;A>C 117;4|4 Ref Hom;A>C 263;0|7 N N - 19 15793068 15793068 C T snp intronic CYP4F12 Cyp4f14 ENSG00000186204 cytochrome P450 family 4 subfamily F member 12 chr19:15783567-15807984 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] Chronic renal failure|Kidney Failure, Chronic; Blood Pressure Determination Mice homozygous for a knock-out allele exhibit reduced vitamin E-omega-hydroxylase activity and altered levels of tocopherols and their metabolites. Eicosanoids GO:0000038;very long-chain fatty acid metabolic process;ISS|GO:0001676;long-chain fatty acid metabolic process;ISS|GO:0003091;renal water homeostasis;ISS|GO:0003095;pressure natriuresis;ISS|GO:0017144;drug metabolic process;ISS|GO:0019369;arachidonic acid metabolic process;ISS|GO:0019373;epoxygenase P450 pathway;ISS|GO:0036101;leukotriene B4 catabolic process;ISS|GO:0042360;vitamin E metabolic process;ISS|GO:0055078;sodium ion homeostasis;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;ISS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;ISS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018685;alkane 1-monooxygenase activity;ISS|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050051;leukotriene-B4 20-monooxygenase activity;ISS|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F12 https://www.ncbi.nlm.nih.gov/omim/?term=611485 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F12&submit=Quick%0D%15595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F12 rs7254785 0.736621 0 0 1 0 0 intronic intronic intronic CYP4F12 CYP4F12 ENSG00000186204 Na Na Na Na Na Na Het;C>T 365;18|18 Het;C>T 293;18|13 Hom;C>T 854;0|24 N N - 19 15880958 15880958 T TC indel UTR3 *37A>GA CYP4F24P rs561810798 0.00159744 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic CYP4F24P CYP4F24P(uc010xor.1:c.*37A>GA) ENSG00000267594,ENSG00000268673 Na Na Na Na Na Na Het;+C 69;2|4 Ref Hom;+C 87;0|4 N N - 19 15905002 15905002 T C snp synonymous SNV T144C T48T polar,hydrophilic,neutral polar,hydrophilic,neutral OR10H5 Gm4461 ENSG00000172519 olfactory receptor family 10 subfamily H member 5 chr19:15904761-15905892 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Heart Rate Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;IBA|GO:0030594;neurotransmitter receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR10H5 http://www.informatics.jax.org/searchtool/Search.do?query=OR10H5&submit=Quick%0D%13181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10H5 rs4808379 0.485423 0.3711 0.4087 1 0 0 exonic exonic exonic OR10H5 OR10H5 ENSG00000172519 synonymous SNV synonymous SNV unknown OR10H5:NM_001004466:exon1:c.T144C:p.T48T, OR10H5:uc010xos.2:exon1:c.T144C:p.T48T, UNKNOWN Het;T>C 5268;219|234 Het;T>C 5089;200|233 Hom;T>C 11204;2|407 N N - 19 15905431 15905431 T C snp synonymous SNV T573C D191D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) OR10H5 Gm4461 ENSG00000172519 olfactory receptor family 10 subfamily H member 5 chr19:15904761-15905892 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Heart Rate Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0098664;G-protein coupled serotonin receptor signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;IBA|GO:0030594;neurotransmitter receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR10H5 http://www.informatics.jax.org/searchtool/Search.do?query=OR10H5&submit=Quick%0D%13181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10H5 rs4808381 0.45607 0.3330 0.3999 1 0 0 exonic exonic exonic OR10H5 OR10H5 ENSG00000172519 synonymous SNV synonymous SNV unknown OR10H5:NM_001004466:exon1:c.T573C:p.D191D, OR10H5:uc010xos.2:exon1:c.T573C:p.D191D, UNKNOWN Het;T>C 2310;121|99 Het;T>C 1806;132|86 Hom;T>C 4810;2|171 N N - 19 15997136 15997136 A AC indel intronic CYP4F2 Cyp4f18 ENSG00000186115 cytochrome P450 family 4 subfamily F member 2 chr19:15988833-16008930 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008] warfarin maintenance dose; Brain Ischemia|Hypertension|Stroke; Electrocardiography; Myocardial Infarction; myocardial infarction; Chronic renal failure|Kidney Failure, Chronic; Hypertension; Acenocoumarol maintenance dosage; Apoplexy|Stroke; Cerebral Infarction|; acenocoumarol; Warfarin; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Apoplexy|Brain Ischemia|Stroke; warfarin response; acenocoumarol maintenance dosage; Atrial Fibrillation|Venous Thrombosis; Acenocoumarol; Venous Thromboembolism; Vitamin E; hypertension Mice homozygous for a knock-out allele exhibit altered leukotriene B4 metabolism but show no significant alterations in inflammatory cell infiltration or injury following renal ischemia-reperfusion. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0003091;renal water homeostasis;IEP|GO:0003095;pressure natriuresis;IEP|GO:0006690;icosanoid metabolic process;TAS|GO:0006691;leukotriene metabolic process;TAS|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IMP|GO:0017144;drug metabolic process;IMP|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;IDA|GO:0032304;negative regulation of icosanoid secretion;IMP|GO:0032305;positive regulation of icosanoid secretion;IMP|GO:0036101;leukotriene B4 catabolic process;IDA|GO:0042360;vitamin E metabolic process;IDA|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055078;sodium ion homeostasis;IEP|GO:0055114;oxidation-reduction process;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008392;arachidonic acid epoxygenase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0018685;alkane 1-monooxygenase activity;IDA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050051;leukotriene-B4 20-monooxygenase activity;TAS|GO:0052869;arachidonic acid omega-hydroxylase activity;IDA|GO:0052870;tocopherol omega-hydroxylase activity;IEA|GO:0052871;alpha-tocopherol omega-hydroxylase activity;IDA|GO:0052872;tocotrienol omega-hydroxylase activity;IDA|GO:0097258;20-hydroxy-leukotriene B4 omega oxidase activity;TAS|GO:0097259;20-aldehyde-leukotriene B4 20-monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CYP4F2 https://www.ncbi.nlm.nih.gov/omim/?term=604426 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F2&submit=Quick%0D%15572ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F2 rs3093159 0.423323 0.4513 0.4646 1 0 0 intronic intronic intronic CYP4F2 CYP4F2 ENSG00000186115 Na Na Na Na Na Na Het;+C 786;24|37 Het;+C 295;30|17 Hom;+C 958;2|37 N N - 19 16000609 16000609 T A snp intronic CYP4F2 Cyp4f18 ENSG00000186115 cytochrome P450 family 4 subfamily F member 2 chr19:15988833-16008930 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008] warfarin maintenance dose; Brain Ischemia|Hypertension|Stroke; Electrocardiography; Myocardial Infarction; myocardial infarction; Chronic renal failure|Kidney Failure, Chronic; Hypertension; Acenocoumarol maintenance dosage; Apoplexy|Stroke; Cerebral Infarction|; acenocoumarol; Warfarin; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Apoplexy|Brain Ischemia|Stroke; warfarin response; acenocoumarol maintenance dosage; Atrial Fibrillation|Venous Thrombosis; Acenocoumarol; Venous Thromboembolism; Vitamin E; hypertension Mice homozygous for a knock-out allele exhibit altered leukotriene B4 metabolism but show no significant alterations in inflammatory cell infiltration or injury following renal ischemia-reperfusion. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0003091;renal water homeostasis;IEP|GO:0003095;pressure natriuresis;IEP|GO:0006690;icosanoid metabolic process;TAS|GO:0006691;leukotriene metabolic process;TAS|GO:0007596;blood coagulation;TAS|GO:0008217;regulation of blood pressure;IMP|GO:0017144;drug metabolic process;IMP|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;IDA|GO:0032304;negative regulation of icosanoid secretion;IMP|GO:0032305;positive regulation of icosanoid secretion;IMP|GO:0036101;leukotriene B4 catabolic process;IDA|GO:0042360;vitamin E metabolic process;IDA|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055078;sodium ion homeostasis;IEP|GO:0055114;oxidation-reduction process;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008392;arachidonic acid epoxygenase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0018685;alkane 1-monooxygenase activity;IDA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0050051;leukotriene-B4 20-monooxygenase activity;TAS|GO:0052869;arachidonic acid omega-hydroxylase activity;IDA|GO:0052870;tocopherol omega-hydroxylase activity;IEA|GO:0052871;alpha-tocopherol omega-hydroxylase activity;IDA|GO:0052872;tocotrienol omega-hydroxylase activity;IDA|GO:0097258;20-hydroxy-leukotriene B4 omega oxidase activity;TAS|GO:0097259;20-aldehyde-leukotriene B4 20-monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CYP4F2 https://www.ncbi.nlm.nih.gov/omim/?term=604426 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F2&submit=Quick%0D%15572ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F2 rs3093156 0.4377 0 0 1 0 0 intronic intronic intronic CYP4F2 CYP4F2 ENSG00000186115 Na Na Na Na Na Na Het;T>A 126;3|5 Ref Hom;T>A 184;0|7 N N - 19 16025176 16025176 C T snp nonsynonymous SNV G1336A D446N polar,hydrophilic,charged(-) polar,hydrophilic,neutral CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs1060463 0.5 0.5523 0.5672 0.17 2 12 exonic exonic exonic CYP4F11 CYP4F11 ENSG00000171903 nonsynonymous SNV nonsynonymous SNV unknown CYP4F11:NM_001128932:exon12:c.G1336A:p.D446N,CYP4F11:NM_021187:exon11:c.G1336A:p.D446N, CYP4F11:uc002nbu.2:exon12:c.G1336A:p.D446N,CYP4F11:uc002nbt.2:exon11:c.G1336A:p.D446N,CYP4F11:uc010eab.1:exon10:c.G1271A:p.R424Q, UNKNOWN Het;C>T 761;19|36 Het;C>T 473;34|22 Hom;C>T 1349;0|54 N N - 19 16032697 16032697 T G snp intronic CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs11086013 0.492812 0 0 1 0 0 intronic intronic intronic CYP4F11 CYP4F11 ENSG00000171903 Na Na Na Na Na Na Het;T>G 199;1|7 Het;T>G 46;1|3 Hom;T>G 92;0|4 N N - 19 16035494 16035494 C T snp intronic CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs3746154 0.491613 0 0 1 0 0 intronic intronic intronic CYP4F11 CYP4F11 ENSG00000171903 Na Na Na Na Na Na Het;C>T 124;12|6 Het;C>T 186;8|9 Hom;C>T 407;0|17 N N - 19 16035517 16035517 G A snp intronic CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs3746156 0.528554 0 0 1 0 0 intronic intronic intronic CYP4F11 CYP4F11 ENSG00000171903 Na Na Na Na Na Na Het;G>A 104;13|5 Het;G>A 226;8|10 Hom;G>A 455;0|19 N N - 19 16038334 16038334 G A snp UTR5 -5151C>T CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs2219358 0.492612 0.5460 0.5645 1 0 0 intronic intronic UTR5 CYP4F11 CYP4F11 ENSG00000171903(ENST00000591841:c.-5151C>T) Na Na Na Na Na Na Het;G>A 247;22|15 Het;G>A 280;22|16 Hom;G>A 465;0|17 N N - 19 16038390 16038390 G T snp UTR5 -5207C>A CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs2305803 0.492412 0 0 1 0 0 intronic intronic UTR5 CYP4F11 CYP4F11 ENSG00000171903(ENST00000591841:c.-5207C>A) Na Na Na Na Na Na Het;G>T 154;17|8 Ref Hom;G>T 194;0|6 N N - 19 16040292 16040292 A G snp synonymous SNV T318C I106I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs3765070 0.492212 0.5462 0.5642 1 0 0 exonic exonic exonic CYP4F11 CYP4F11 ENSG00000171903 synonymous SNV synonymous SNV unknown CYP4F11:NM_001128932:exon3:c.T318C:p.I106I,CYP4F11:NM_021187:exon2:c.T318C:p.I106I, CYP4F11:uc002nbu.2:exon3:c.T318C:p.I106I,CYP4F11:uc002nbt.2:exon2:c.T318C:p.I106I,CYP4F11:uc010eab.1:exon2:c.T318C:p.I106I, UNKNOWN Het;A>G 1526;66|64 Het;A>G 1308;58|57 Hom;A>G 3371;0|124 N N - 19 16040473 16040473 T C snp intronic CYP4F11 Cyp4f40 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 chr19:16023177-16045677 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; lung cancer; Tobacco Use Disorder Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0006954;inflammatory response;TAS|GO:0007596;blood coagulation;TAS|GO:0042361;menaquinone catabolic process;IDA|GO:0042376;phylloquinone catabolic process;IDA|GO:0042377;vitamin K catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0020037;heme binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4F11 https://www.ncbi.nlm.nih.gov/omim/?term=611517 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4F11&submit=Quick%0D%13041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4F11 rs4808414 0.498203 0 0 1 0 0 intronic intronic intronic CYP4F11 CYP4F11 ENSG00000171903 Na Na Na Na Na Na Het;T>C 856;35|32 Het;T>C 818;36|38 Hom;T>C 1449;0|49 N N - 19 16197421 16197421 A G snp intronic TPM4 Tpm4 ENSG00000167460 tropomyosin 4 chr19:16177831-16213813 This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] Platelet Count Smooth Muscle Contraction GO:0001649;osteoblast differentiation;IDA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IBA|GO:0030049;muscle filament sliding;TAS GO:0001725;stress fiber;IDA|GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005862;muscle thin filament tropomyosin;TAS|GO:0005884;actin filament;IBA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030863;cortical cytoskeleton;IEA|GO:0031941;filamentous actin;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TPM4 https://www.ncbi.nlm.nih.gov/omim/?term=600317 http://www.informatics.jax.org/searchtool/Search.do?query=TPM4&submit=Quick%0D%12016ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPM4 rs2303149 0.584065 0 0 1 0 0 intronic intronic intronic TPM4 TPM4 ENSG00000167460 Na Na Na Na Na Na Het;A>G 329;9|16 Het;A>G 145;11|8 Hom;A>G 439;0|17 N N - 19 16791443 16791443 T C snp intronic TMEM38A Tmem38a ENSG00000072954 transmembrane protein 38A chr19:16771938-16800840 Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele are viable and fertile. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0015672;monovalent inorganic cation transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005634;nucleus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031965;nuclear membrane;NAS|GO:0033017;sarcoplasmic reticulum membrane;NAS|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005267;potassium channel activity;TAS|GO:0015269;calcium-activated potassium channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TMEM38A https://www.uniprot.org/uniprot/Q9H6F2 https://www.ncbi.nlm.nih.gov/omim/?term=611235 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM38A&submit=Quick%0D%1456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM38A rs901792 0.456869 0.3880 0.2888 1 0 0 intronic intronic intronic TMEM38A TMEM38A ENSG00000072954 Na Na Na Na Na Na Het;T>C 298;19|12 Het;T>C 224;7|9 Hom;T>C 340;0|13 N N - 19 16988456 16988456 A G snp intronic SIN3B Sin3b ENSG00000127511 SIN3 transcription regulator family member B chr19:16940211-16991164 Type 2 Diabetes| edema | rosiglitazone Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016575;histone deacetylation;IBA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0000805;X chromosome;IEA|GO:0000806;Y chromosome;IEA|GO:0001741;XY body;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016580;Sin3 complex;IBA|GO:0030849;autosome;IEA GO:0001106;RNA polymerase II transcription corepressor activity;IBA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SIN3B https://www.uniprot.org/uniprot/O75182 https://www.ncbi.nlm.nih.gov/omim/?term=607777 http://www.informatics.jax.org/searchtool/Search.do?query=SIN3B&submit=Quick%0D%6043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIN3B rs2303090 0.633586 0.6555 0.7076 1 0 0 intronic intronic intronic SIN3B SIN3B ENSG00000127511 Na Na Na Na Na Na Het;A>G 939;50|43 Het;A>G 842;48|44 Hom;A>G 2917;0|108 N N - 19 17488141 17488141 A C snp UTR5 -44T>G PLVAP Plvap ENSG00000130300 plasmalemma vesicle associated protein chr19:17462257-17488159 Mice homozygous for a null mutation display background sensitive lethality, absence of diaphragms from fenestrated endothelia, increased vascular permeability, hypoproteinemia, ascites, edema, xanthoma and increased plasma triglyceride levels. GO:0000165;MAPK cascade;IDA|GO:0002693;positive regulation of cellular extravasation;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLVAP https://www.uniprot.org/uniprot/Q9BX97 https://hpo.jax.org/app/browse/search?q=PLVAP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607647 http://www.informatics.jax.org/searchtool/Search.do?query=PLVAP&submit=Quick%0D%6347ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLVAP rs10417806 0.315695 0.2263 0.1994 1 0 0 UTR5 upstream UTR5 PLVAP(NM_031310:c.-44T>G) PLVAP ENSG00000130300(ENST00000252590:c.-44T>G,ENST00000599426:c.-44T>G) Na Na Na Na Na Na Het;A>C 799;76|39 Het;A>C 669;65|35 Hom;A>C 2417;0|89 N N - 19 17516620 17516620 C T snp ncRNA_exonic BISPR rs28413174 0.23722 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic BISPR AK311380 ENSG00000269640 Na Na Na Na Na Na Het;C>T 1065;40|45 Het;C>T 1129;40|49 Hom;C>T 2860;1|100 N N - 19 17517174 17517174 T C snp ncRNA_intronic AK055623 rs2278233 0.313299 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic BISPR AK055623,AK311380 ENSG00000269640 Na Na Na Na Na Na Het;T>C 586;25|25 Het;T>C 518;36|25 Hom;T>C 1733;0|65 N N - 19 17525420 17525420 G A snp ncRNA_exonic BISPR rs10420449 0.323882 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic BISPR AK055623,AK311380 ENSG00000269640 Na Na Na Na Na Na Het;G>A 401;12|14 Het;G>A 308;7|12 Hom;G>A 612;0|21 N N - 19 17534898 17534898 C T snp intronic MVB12A Mvb12a ENSG00000141971 multivesicular body subunit 12A chr19:17516531-17544533 Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0019075;virus maturation;IMP|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IC|GO:0048524;positive regulation of viral process;IMP|GO:0075733;intracellular transport of virus;TAS|GO:1903772;regulation of viral budding via host ESCRT complex;IMP GO:0000813;ESCRT I complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IMP|GO:0017124;SH3 domain binding;IEA|GO:0043130;ubiquitin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/MVB12A https://www.uniprot.org/uniprot/Q96EY5 http://www.informatics.jax.org/searchtool/Search.do?query=MVB12A&submit=Quick%0D%8238ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVB12A rs13345062 0.232628 0.1858 0.1896 1 0 0 intronic intronic intronic MVB12A MVB12A ENSG00000141971 Na Na Na Na Na Na Het;C>T 1017;46|43 Het;C>T 750;37|34 Hom;C>T 1226;0|45 N N - 19 17535867 17535893 CCTCACTGCATCCTGGGGCCACCCCCA C indel UTR3 *65_*91delinsC MVB12A Mvb12a ENSG00000141971 multivesicular body subunit 12A chr19:17516531-17544533 Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0019075;virus maturation;IMP|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IC|GO:0048524;positive regulation of viral process;IMP|GO:0075733;intracellular transport of virus;TAS|GO:1903772;regulation of viral budding via host ESCRT complex;IMP GO:0000813;ESCRT I complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IMP|GO:0017124;SH3 domain binding;IEA|GO:0043130;ubiquitin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/MVB12A https://www.uniprot.org/uniprot/Q96EY5 http://www.informatics.jax.org/searchtool/Search.do?query=MVB12A&submit=Quick%0D%8238ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVB12A rs201974585 0 0.0788 0 1 0 0 UTR3 UTR3 UTR3 MVB12A(NM_001304547:c.*65_*91delinsC,NM_138401:c.*65_*91delinsC) MVB12A(uc002ngo.1:c.*65_*91delinsC) ENSG00000141971(ENST00000317040:c.*65_*91delinsC,ENST00000392702:c.*65_*91delinsC,ENST00000543795:c.*33_*59delinsC,ENST00000594784:c.*65_*91delinsC) Na Na Na Na Na Na Het;-CTCACTGCATCCTGGGGCCACCCCCA 532;18|16 Het;-CTCACTGCATCCTGGGGCCACCCCCA 185;12|6 Hom;-CTCACTGCATCCTGGGGCCACCCCCA 1352;0|32 N N - 19 17641667 17641667 G A snp synonymous SNV G252A P84P hydrophobic,neutral hydrophobic,neutral FAM129C Fam129c ENSG00000167483 family with sequence similarity 129 member C chr19:17634110-17664648 http://www.genecards.org/index.php?path=/Search/keyword/FAM129C https://www.ncbi.nlm.nih.gov/omim/?term=609967 http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C rs74336438 0.0583067 0.0577 0.0504 1 0 0 exonic exonic exonic FAM129C FAM129C ENSG00000167483 synonymous SNV synonymous SNV unknown FAM129C:NM_173544:exon3:c.G252A:p.P84P,FAM129C:NM_001098524:exon3:c.G252A:p.P84P, FAM129C:uc010xps.2:exon2:c.G159A:p.P53P,FAM129C:uc021uqj.1:exon3:c.G252A:p.P84P,FAM129C:uc021uqi.1:exon3:c.G252A:p.P84P, UNKNOWN Het;G>A 721;49|35 Het;G>A 658;51|34 Hom;G>A 1942;0|71 N N - 19 17650229 17650229 C A snp nonsynonymous SNV C56A A19E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) FAM129C Fam129c ENSG00000167483 family with sequence similarity 129 member C chr19:17634110-17664648 http://www.genecards.org/index.php?path=/Search/keyword/FAM129C https://www.ncbi.nlm.nih.gov/omim/?term=609967 http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C rs114207587 0.0605032 0 0.1154 0.00 0 13 exonic exonic exonic FAM129C FAM129C ENSG00000167483 nonsynonymous SNV nonsynonymous SNV unknown FAM129C:NM_173544:exon8:c.C878A:p.A293E,FAM129C:NM_001098524:exon8:c.C878A:p.A293E, FAM129C:uc010xpu.2:exon2:c.C56A:p.A19E,FAM129C:uc010eaw.3:exon2:c.C56A:p.A19E,FAM129C:uc021uqj.1:exon8:c.C878A:p.A293E,FAM129C:uc021uqi.1:exon8:c.C878A:p.A293E,FAM129C:uc002ngy.4:exon2:c.C56A:p.A19E, UNKNOWN Het;C>A 798;29|34 Het;C>A 336;9|14 Hom;C>A 1029;0|35 N N - 19 17654182 17654182 G A snp synonymous SNV G1479A T493T polar,hydrophilic,neutral polar,hydrophilic,neutral FAM129C Fam129c ENSG00000167483 family with sequence similarity 129 member C chr19:17634110-17664648 http://www.genecards.org/index.php?path=/Search/keyword/FAM129C https://www.ncbi.nlm.nih.gov/omim/?term=609967 http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C rs76814516 0.061901 0.0586 0.0526 1 0 0 exonic exonic exonic FAM129C FAM129C ENSG00000167483 synonymous SNV synonymous SNV unknown FAM129C:NM_173544:exon12:c.G1479A:p.T493T,FAM129C:NM_001098524:exon12:c.G1479A:p.T493T, FAM129C:uc010xpu.2:exon6:c.G657A:p.T219T,FAM129C:uc002nhb.3:exon3:c.G276A:p.T92T,FAM129C:uc010eaw.3:exon6:c.G657A:p.T219T,FAM129C:uc021uqj.1:exon12:c.G1479A:p.T493T,FAM129C:uc021uqi.1:exon12:c.G1479A:p.T493T,FAM129C:uc002ngy.4:exon6:c.G657A:p.T219T, UNKNOWN Het;G>A 1731;99|77 Het;G>A 1743;86|80 Hom;G>A 3579;2|131 N N - 19 17662616 17662616 G A snp nonsynonymous SNV G959A R320Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral FAM129C Fam129c ENSG00000167483 family with sequence similarity 129 member C chr19:17634110-17664648 http://www.genecards.org/index.php?path=/Search/keyword/FAM129C https://www.ncbi.nlm.nih.gov/omim/?term=609967 http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C rs76629753 0.0615016 0.0583 0.0531 0.09 1 11 exonic exonic exonic FAM129C FAM129C ENSG00000167483 nonsynonymous SNV nonsynonymous SNV unknown FAM129C:NM_001098524:exon16:c.G1865A:p.R622Q, FAM129C:uc010xpu.2:exon9:c.G959A:p.R320Q,FAM129C:uc010eaw.3:exon9:c.G935A:p.R312Q,FAM129C:uc021uqi.1:exon16:c.G1865A:p.R622Q, UNKNOWN Het;G>A 1490;88|73 Het;G>A 993;65|51 Hom;G>A 3851;4|153 N N - 19 17664418 17664418 G A snp UTR3 *46G>A FAM129C Fam129c ENSG00000167483 family with sequence similarity 129 member C chr19:17634110-17664648 http://www.genecards.org/index.php?path=/Search/keyword/FAM129C https://www.ncbi.nlm.nih.gov/omim/?term=609967 http://www.informatics.jax.org/searchtool/Search.do?query=FAM129C&submit=Quick%0D%12020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129C rs34631213 0.250998 0.2848 0.2334 1 0 0 UTR3 UTR3 UTR3 FAM129C(NM_173544:c.*46G>A) FAM129C(uc021uqj.1:c.*46G>A) ENSG00000167483(ENST00000335393:c.*46G>A,ENST00000601861:c.*46G>A,ENST00000449408:c.*46G>A,ENST00000600519:c.*3337G>A) Na Na Na Na Na Na Het;G>A 329;9|12 Het;G>A 126;9|5 Hom;G>A 346;0|11 N N - 19 17671382 17671382 G A snp intronic COLGALT1 Colgalt1 ENSG00000130309 collagen beta(1-O)galactosyltransferase 1 chr19:17666403-17693971 The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015] Aspartate Aminotransferases Mice homozygous for an ENU-induced exhibit bent wrists, eye abnormalities, variable cleft palate and exencephaly and embryonic lethality. Collagen biosynthesis and modifying enzymes GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/COLGALT1 https://www.uniprot.org/uniprot/Q8NBJ5 https://hpo.jax.org/app/browse/search?q=COLGALT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617531 http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT1&submit=Quick%0D%6352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT1 rs73525772 0.127196 0 0 1 0 0 intronic intronic intronic COLGALT1 COLGALT1 ENSG00000130309 Na Na Na Na Na Na Het;G>A 403;9|16 Het;G>A 264;12|12 Hom;G>A 516;0|19 N N - 19 17691938 17691938 G C snp intronic COLGALT1 Colgalt1 ENSG00000130309 collagen beta(1-O)galactosyltransferase 1 chr19:17666403-17693971 The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015] Aspartate Aminotransferases Mice homozygous for an ENU-induced exhibit bent wrists, eye abnormalities, variable cleft palate and exencephaly and embryonic lethality. Collagen biosynthesis and modifying enzymes GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/COLGALT1 https://www.uniprot.org/uniprot/Q8NBJ5 https://hpo.jax.org/app/browse/search?q=COLGALT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617531 http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT1&submit=Quick%0D%6352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT1 rs73524018 0.134385 0.1329 0.0760 1 0 0 intronic intronic intronic COLGALT1 COLGALT1 ENSG00000130309 Na Na Na Na Na Na Het;G>C 982;40|38 Het;G>C 543;29|25 Hom;G>C 1049;0|36 N N - 19 18145938 18145938 A AG indel intergenic ARRDC2 Arrdc2 ENSG00000105643 arrestin domain containing 2 chr19:18111941-18124911 Coronary Disease GO:0005886;plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARRDC2 https://www.uniprot.org/uniprot/Q8TBH0 http://www.informatics.jax.org/searchtool/Search.do?query=ARRDC2&submit=Quick%0D%3350ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARRDC2 rs112149552 0.958866 0 0 1 0 0 intergenic intergenic intergenic ARRDC2(dist=21027),IL12RB1(dist=23867) ARRDC2(dist=21027),IL12RB1(dist=24433) ENSG00000268032(dist=3029),ENSG00000268623(dist=5227) Na Na Na Na Na Na Het;+G 70;4|4 Ref Hom;+G 143;0|4 N N - 19 1914795 1914795 C T snp intronic SCAMP4 Scamp4 ENSG00000227500 secretory carrier membrane protein 4 chr19:1905213-1926016 Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011] Tobacco Use Disorder GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCAMP4 https://www.ncbi.nlm.nih.gov/omim/?term=613764 http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP4&submit=Quick%0D%18772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP4 rs11666645 0.627196 0 0 1 0 0 intronic intronic intronic SCAMP4 SCAMP4 ENSG00000227500 Na Na Na Na Na Na Het;C>T 228;8|9 Ref Hom;C>T 101;0|4 N N - 19 1924050 1924050 T C snp intronic SCAMP4 Scamp4 ENSG00000227500 secretory carrier membrane protein 4 chr19:1905213-1926016 Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011] Tobacco Use Disorder GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCAMP4 https://www.ncbi.nlm.nih.gov/omim/?term=613764 http://www.informatics.jax.org/searchtool/Search.do?query=SCAMP4&submit=Quick%0D%18772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAMP4 rs4807170 0.439297 0 0 1 0 0 intronic intronic intronic SCAMP4 SCAMP4 ENSG00000227500 Na Na Na Na Na Na Het;T>C 863;22|32 Het;T>C 745;24|29 Hom;T>C 1084;1|35 N N - 19 19605348 19605348 T C snp intronic GATAD2A Gatad2a ENSG00000167491 GATA zinc finger domain containing 2A chr19:19496635-19619740 alcohol Mice homozygous for a knock-out allele die around E9.5 displaying variable developmental defects, including malformed or unfused neural folds, failure of closure of anterior neuropore, missing or excessively large blood vessels in the yolk sac, abnormal embryo turning, and embryonic growth arrest. Regulation of PTEN gene transcription GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016581;NuRD complex;IDA|GO:0016607;nuclear speck;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0030674;protein binding, bridging;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GATAD2A https://www.ncbi.nlm.nih.gov/omim/?term=614997 http://www.informatics.jax.org/searchtool/Search.do?query=GATAD2A&submit=Quick%0D%12022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GATAD2A rs2288852 0.474441 0 0 1 0 0 intronic intronic intronic GATAD2A GATAD2A ENSG00000167491 Na Na Na Na Na Na Het;T>C 83;3|3 Ref Hom;T>C 100;0|3 N N - 19 1987279 1987279 C T snp synonymous SNV G51A T17T polar,hydrophilic,neutral polar,hydrophilic,neutral BTBD2 Btbd2 ENSG00000133243 BTB domain containing 2 chr19:1985447-2034880 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008] Macular Degeneration; Brain Neoplasms|Glioma GO:0022008;neurogenesis;IBA|GO:0030162;regulation of proteolysis;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IBA|GO:0019005;SCF ubiquitin ligase complex;IBA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/BTBD2 https://www.uniprot.org/uniprot/Q9BX70 https://www.ncbi.nlm.nih.gov/omim/?term=608531 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD2&submit=Quick%0D%6816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD2 rs11669527 0.507788 0.4322 0.3358 1 0 0 intronic exonic intronic BTBD2 BTBD2 ENSG00000133243 Na synonymous SNV Na Na BTBD2:uc031riv.1:exon1:c.G51A:p.T17T, Na Het;C>T 526;40|27 Ref Hom;C>T 1133;0|41 N N - 19 1990309 1990309 T C snp ncRNA_exonic AC005306.1 rs4807191 0.680711 0 0 1 0 0 intronic intronic ncRNA_exonic BTBD2 BTBD2 ENSG00000267283 Na Na Na Na Na Na Het;T>C 94;4|4 Ref Hom;T>C 187;0|6 N N - 19 1997363 1997363 A G snp synonymous SNV T507C A169A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BTBD2 Btbd2 ENSG00000133243 BTB domain containing 2 chr19:1985447-2034880 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008] Macular Degeneration; Brain Neoplasms|Glioma GO:0022008;neurogenesis;IBA|GO:0030162;regulation of proteolysis;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IBA|GO:0019005;SCF ubiquitin ligase complex;IBA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/BTBD2 https://www.uniprot.org/uniprot/Q9BX70 https://www.ncbi.nlm.nih.gov/omim/?term=608531 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD2&submit=Quick%0D%6816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD2 rs1610045 0.454673 0.4035 0.3770 1 0 0 exonic exonic exonic BTBD2 BTBD2 ENSG00000133243 synonymous SNV synonymous SNV unknown BTBD2:NM_017797:exon2:c.T507C:p.A169A, BTBD2:uc002lup.1:exon2:c.T507C:p.A169A, UNKNOWN Het;A>G 2032;78|88 Ref Hom;A>G 4742;0|172 N N - 19 2042886 2042886 A G snp intronic MKNK2 Mknk2 ENSG00000099875 MAP kinase interacting serine/threonine kinase 2 chr19:2037470-2051243 This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous null mice are viable and fertile with no gross abnormalities. GO:0006417;regulation of translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030097;hemopoiesis;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0046777;protein autophosphorylation;IBA|GO:0071243;cellular response to arsenic-containing substance;IDA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MKNK2 https://www.uniprot.org/uniprot/Q9HBH9 https://www.ncbi.nlm.nih.gov/omim/?term=605069 http://www.informatics.jax.org/searchtool/Search.do?query=MKNK2&submit=Quick%0D%2346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MKNK2 rs7253052 0.714856 0.6553 0.6456 1 0 0 intronic intronic intronic MKNK2 MKNK2 ENSG00000099875 Na Na Na Na Na Na Het;A>G 762;26|35 Ref Hom;A>G 1389;0|49 N N - 19 2099250 2099250 G A snp UTR3 *797G>A IZUMO4 Izumo4 ENSG00000099840 IZUMO family member 4 chr19:2096380-2099592 Sperm:Oocyte Membrane Binding GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA http://www.genecards.org/index.php?path=/Search/keyword/IZUMO4 https://www.uniprot.org/uniprot/Q1ZYL8 http://www.informatics.jax.org/searchtool/Search.do?query=IZUMO4&submit=Quick%0D%2341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IZUMO4 rs11668205 0.0874601 0.0886 0.1048 1 0 0 intronic UTR3 intronic IZUMO4 IZUMO4(uc010xgw.1:c.*797G>A) ENSG00000099840 Na Na Na Na Na Na Het;G>A 651;49|33 Ref Hom;G>A 2051;0|75 N N - 19 21749327 21749327 A T snp ncRNA_intronic AC123912.1 rs73025825 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic ZNF429(dist=28248),ZNF100(dist=157516) ZNF429(dist=10257),AX748435(dist=14031) ENSG00000268081 Na Na Na Na Na Na Het;A>T 118;2|4 Het;A>T 145;1|6 Hom;A>T 101;0|4 N N - 19 23159486 23159486 T C snp nonsynonymous SNV A653G Y218C aromatic,polar,hydrophobic polar,hydrophobic,neutral ZNF728 Zfp595 ENSG00000269067 zinc finger protein 728 chr19:23158270-23185978 GO:0006355;regulation of transcription, DNA-templated;IBA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF728 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF728&submit=Quick%0D%20743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF728 rs289318 0.259585 0 0.2154 0.00 0 4 exonic exonic exonic ZNF728 ZNF728 ENSG00000269067 nonsynonymous SNV nonsynonymous SNV unknown ZNF728:NM_001267716:exon4:c.A653G:p.Y218C, ZNF728:uc002nqz.2:exon4:c.A653G:p.Y218C,ZNF728:uc002nqy.2:exon3:c.A104G:p.Y35C, UNKNOWN Het;T>C 62;5|3 Het;T>C 188;1|6 Hom;T>C 363;0|10 N N - 19 23177844 23177844 T C snp ncRNA_exonic BNIP3P36 rs289293 0.259385 0 0 1 0 0 intronic intronic ncRNA_exonic ZNF728 ZNF728 ENSG00000271661 Na Na Na Na Na Na Het;T>C 51;1|3 Ref Hom;T>C 264;0|7 N N - 19 23177889 23177889 T C snp ncRNA_exonic BNIP3P36 rs289291 0.301518 0 0 1 0 0 intronic intronic ncRNA_exonic ZNF728 ZNF728 ENSG00000271661 Na Na Na Na Na Na Het;T>C 79;2|4 Ref Hom;T>C 223;0|7 N N - 19 2389612 2389612 T C snp upstream TMPRSS9 Tmprss9 ENSG00000178297 transmembrane protease, serine 9 chr19:2389769-2426237 The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016] Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9 https://www.ncbi.nlm.nih.gov/omim/?term=610477 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9 rs2396236 0.51877 0 0 1 0 0 upstream upstream upstream TMPRSS9 TMPRSS9 ENSG00000178297 Na Na Na Na Na Na Het;T>C 191;11|6 Het;T>C 44;3|2 Hom;T>C 152;0|4 N N - 19 2389623 2389623 C T snp upstream TMPRSS9 Tmprss9 ENSG00000178297 transmembrane protease, serine 9 chr19:2389769-2426237 The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016] Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9 https://www.ncbi.nlm.nih.gov/omim/?term=610477 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9 rs891173 0.518371 0 0 1 0 0 upstream upstream upstream TMPRSS9 TMPRSS9 ENSG00000178297 Na Na Na Na Na Na Het;C>T 249;14|8 Het;C>T 44;4|2 Hom;C>T 152;0|4 N N - 19 2389872 2389872 G C snp nonsynonymous SNV G89C S30T polar,hydrophilic,neutral polar,hydrophilic,neutral TMPRSS9 Tmprss9 ENSG00000178297 transmembrane protease, serine 9 chr19:2389769-2426237 The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016] Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9 https://www.ncbi.nlm.nih.gov/omim/?term=610477 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9 rs891174 0.583466 0.6491 0.6218 0.15 2 13 exonic exonic exonic TMPRSS9 TMPRSS9 ENSG00000178297 nonsynonymous SNV nonsynonymous SNV unknown TMPRSS9:NM_182973:exon1:c.G89C:p.S30T, TMPRSS9:uc002lvv.1:exon1:c.G89C:p.S30T,TMPRSS9:uc010xgx.2:exon1:c.G89C:p.S30T, UNKNOWN Het;G>C 2135;125|100 Het;G>C 1619;78|78 Hom;G>C 5422;0|203 N N - 19 2389954 2389954 G A snp intronic TMPRSS9 Tmprss9 ENSG00000178297 transmembrane protease, serine 9 chr19:2389769-2426237 The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016] Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9 https://www.ncbi.nlm.nih.gov/omim/?term=610477 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9 rs891175 0.584065 0.6504 0.6208 1 0 0 intronic intronic intronic TMPRSS9 TMPRSS9 ENSG00000178297 Na Na Na Na Na Na Het;G>A 1575;43|42 Het;G>A 673;32|19 Hom;G>A 2883;0|68 N N - 19 2389958 2389958 T A snp intronic TMPRSS9 Tmprss9 ENSG00000178297 transmembrane protease, serine 9 chr19:2389769-2426237 The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016] Tobacco Use Disorder GO:0006508;proteolysis;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS9 https://www.ncbi.nlm.nih.gov/omim/?term=610477 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS9&submit=Quick%0D%14166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS9 rs891176 0.584065 0.6502 0.6205 1 0 0 intronic intronic intronic TMPRSS9 TMPRSS9 ENSG00000178297 Na Na Na Na Na Na Het;T>A 1587;36|41 Het;T>A 673;32|19 Hom;T>A 2809;0|64 N N - 19 2477277 2477277 C T snp unknown GADD45B Gadd45b ENSG00000099860 growth arrest and DNA damage inducible beta chr19:2476120-2478257 This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008] epithelial ovarian cancer Homozygous inactivation of this locus affects immune response. GO:0000185;activation of MAPKKK activity;IDA|GO:0000186;activation of MAPKK activity;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006915;apoptotic process;IEA|GO:0006950;response to stress;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0051726;regulation of cell cycle;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GADD45B https://www.uniprot.org/uniprot/O75293 https://www.ncbi.nlm.nih.gov/omim/?term=604948 http://www.informatics.jax.org/searchtool/Search.do?query=GADD45B&submit=Quick%0D%2343ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GADD45B rs2024144 0.20028 0.1709 0.3156 0.40 2 5 intronic intronic exonic GADD45B GADD45B ENSG00000099860 Na Na unknown Na Na UNKNOWN Het;C>T 1155;25|41 Ref Hom;C>T 1501;0|43 N N - 19 2477665 2477665 A AC indel UTR3 *66A>AC GADD45B Gadd45b ENSG00000099860 growth arrest and DNA damage inducible beta chr19:2476120-2478257 This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008] epithelial ovarian cancer Homozygous inactivation of this locus affects immune response. GO:0000185;activation of MAPKKK activity;IDA|GO:0000186;activation of MAPKK activity;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006915;apoptotic process;IEA|GO:0006950;response to stress;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0051726;regulation of cell cycle;IEA|GO:1900745;positive regulation of p38MAPK cascade;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GADD45B https://www.uniprot.org/uniprot/O75293 https://www.ncbi.nlm.nih.gov/omim/?term=604948 http://www.informatics.jax.org/searchtool/Search.do?query=GADD45B&submit=Quick%0D%2343ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GADD45B rs3214277 0.234425 0 0 1 0 0 UTR3 UTR3 UTR3 GADD45B(NM_015675:c.*66A>AC) GADD45B(uc002lwb.2:c.*66A>AC) ENSG00000099860(ENST00000215631:c.*66A>AC) Na Na Na Na Na Na Het;+C 184;10|9 Ref Hom;+C 366;0|13 N N - 19 252598 252598 G A snp intergenic LINC01002 rs202041502 0 0 0 1 0 0 intergenic intergenic intergenic LINC01002(dist=50389),PPAP2C(dist=28442) DQ593908(dist=43242),PPAP2C(dist=28446) ENSG00000267305(dist=13351),ENSG00000271846(dist=6662) Na Na Na Na Na Na Het;G>A 89;3|3 Ref Hom;G>A 81;0|3 N N - 19 252610 252610 T C snp intergenic LINC01002 rs141011631 0 0 0 1 0 0 intergenic intergenic intergenic LINC01002(dist=50401),PPAP2C(dist=28430) DQ593908(dist=43254),PPAP2C(dist=28434) ENSG00000267305(dist=13363),ENSG00000271846(dist=6650) Na Na Na Na Na Na Het;T>C 92;2|3 Ref Hom;T>C 82;0|3 N N - 19 27733859 27733859 T C snp intergenic NONE rs74392079 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LINC00662(dist=547542) NONE(dist=NONE),AK075337(dist=395532) NONE(dist=NONE),ENSG00000267696(dist=395532) Na Na Na Na Na Na Het;T>C 78;1|5 Ref Hom;T>C 91;0|4 N N - 19 27734230 27734230 T G snp intergenic NONE rs62136110 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LINC00662(dist=547171) NONE(dist=NONE),AK075337(dist=395161) NONE(dist=NONE),ENSG00000267696(dist=395161) Na Na Na Na Na Na Het;T>G 513;2|14 Ref Hom;T>G 2176;0|51 N N - 19 27736789 27736789 T C snp intergenic NONE rs62136698 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LINC00662(dist=544612) NONE(dist=NONE),AK075337(dist=392602) NONE(dist=NONE),ENSG00000267696(dist=392602) Na Na Na Na Na Na Het;T>C 31;2|3 Ref Hom;T>C 205;0|8 N N - 19 2993427 2993427 T C snp intronic TLE6 Tle6 ENSG00000104953 transducin like enhancer of split 6 chr19:2977444-2995177 This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] PREIMPLANTATION EMBRYONIC LETHALITY 1 GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0050769;positive regulation of neurogenesis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/TLE6 https://www.uniprot.org/uniprot/Q9H808 https://hpo.jax.org/app/browse/search?q=TLE6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612399 http://www.informatics.jax.org/searchtool/Search.do?query=TLE6&submit=Quick%0D%3210ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLE6 rs435806 0.466454 0.3864 0.3356 1 0 0 intronic intronic intronic TLE6 TLE6 ENSG00000104953 Na Na Na Na Na Na Het;T>C 582;42|28 Het;T>C 698;28|31 Hom;T>C 1698;0|56 N N - 19 30364527 30364527 C G snp intergenic CCNE1 Ccne1 ENSG00000105173 cyclin E1 chr19:30302805-30315215 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016] Body Weights and Measures; ovarian cancer; epithelial ovarian cancer ; ovarian cancer ; Diabetic Nephropathies; breast cancer; Stroke; breast cancer ; bladder cancer; esophageal adenocarcinoma Mice homozygous for disruptions in this gene display no abnormal phenotype. PTK6 Regulates Cell Cycle GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000723;telomere maintenance;IEA|GO:0006270;DNA replication initiation;IEA|GO:0006468;protein phosphorylation;IMP|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0045859;regulation of protein kinase activity;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0070192;chromosome organization involved in meiotic cell cycle;IEA|GO:1903827;regulation of cellular protein localization;IEA GO:0000307;cyclin-dependent protein kinase holoenzyme complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0097134;cyclin E1-CDK2 complex;IEA GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016538;cyclin-dependent protein serine/threonine kinase regulator activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0050681;androgen receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CCNE1 https://www.uniprot.org/uniprot/P24864 https://www.ncbi.nlm.nih.gov/omim/?term=123837 http://www.informatics.jax.org/searchtool/Search.do?query=CCNE1&submit=Quick%0D%3242ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNE1 rs34716 0.805112 0 0 1 0 0 intergenic intergenic intergenic CCNE1(dist=49312),URI1(dist=50024) CCNE1(dist=49312),URI1(dist=50024) ENSG00000105173(dist=49312),ENSG00000267433(dist=28076) Na Na Na Na Na Na Het;C>G 41;3|3 Ref Hom;C>G 108;0|5 N N - 19 33512632 33512633 CA C indel intronic RHPN2 Rhpn2 ENSG00000131941 rhophilin Rho GTPase binding protein 2 chr19:33469499-33555794 This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009] colorectal cancer; Colorectal Neoplasms Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology. RHO GTPases Activate Rhotekin and Rhophilins GO:0007165;signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/RHPN2 https://www.uniprot.org/uniprot/Q8IUC4 http://www.informatics.jax.org/searchtool/Search.do?query=RHPN2&submit=Quick%0D%6605ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN2 rs34594918 0.674121 0 0 1 0 0 intronic intronic intronic RHPN2 RHPN2 ENSG00000131941 Na Na Na Na Na Na Het;-A 396;16|14 Het;-A 586;9|19 Hom;-A 898;0|25 N N - 19 33571972 33571972 G A snp UTR5 -128G>A GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs28372854 0.289537 0 0 1 0 0 UTR5 UTR5 UTR5 GPATCH1(NM_018025:c.-128G>A) GPATCH1(uc002nug.1:c.-128G>A) ENSG00000076650(ENST00000170564:c.-128G>A,ENST00000592165:c.-128G>A) Na Na Na Na Na Na Het;G>A 1525;59|62 Het;G>A 1051;56|48 Hom;G>A 3374;0|120 N N - 19 33572089 33572089 G C snp UTR5 -11G>C GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs28372855 0.257388 0.1645 0.2152 1 0 0 UTR5 UTR5 UTR5 GPATCH1(NM_018025:c.-11G>C) GPATCH1(uc002nug.1:c.-11G>C) ENSG00000076650(ENST00000170564:c.-11G>C,ENST00000592165:c.-11G>C) Na Na Na Na Na Na Het;G>C 1564;85|72 Het;G>C 1275;61|57 Hom;G>C 2746;2|103 N N - 19 33579128 33579128 T C snp synonymous SNV T162C S54S polar,hydrophilic,neutral polar,hydrophilic,neutral GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs7259333 0.533946 0.4242 0.3710 1 0 0 exonic exonic exonic GPATCH1 GPATCH1 ENSG00000076650 synonymous SNV synonymous SNV unknown GPATCH1:NM_018025:exon2:c.T162C:p.S54S, GPATCH1:uc002nug.1:exon2:c.T162C:p.S54S, UNKNOWN Het;T>C 1444;92|74 Het;T>C 1319;77|66 Hom;T>C 3322;4|132 N N - 19 33584176 33584176 C CT indel intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs35647730 0.454872 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;+T 176;8|10 Ref Hom;+T 213;0|10 N N - 19 33584479 33584479 G A snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs12460195 0.533347 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;G>A 1266;58|54 Het;G>A 961;29|37 Hom;G>A 2111;0|72 N N - 19 33585197 33585197 C T snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs74257353 0.0734824 0.0230 0.0450 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;C>T 302;15|13 Het;C>T 455;8|22 Hom;C>T 579;1|24 N N - 19 33586739 33586739 G C snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs13345542 0.533347 0.4243 0.3707 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;G>C 1495;95|71 Het;G>C 1128;81|59 Hom;G>C 3540;0|129 N N - 19 33592301 33592301 C A snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs10410778 0.533546 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;C>A 306;8|10 Het;C>A 290;4|10 Hom;C>A 395;1|14 N N - 19 335946 335946 G A snp intronic MIER2 Mier2 ENSG00000105556 MIER family member 2 chr19:305575-344798 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MIER2 https://www.uniprot.org/uniprot/Q8N344 http://www.informatics.jax.org/searchtool/Search.do?query=MIER2&submit=Quick%0D%3332ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIER2 rs3816322 0.51258 0 0 1 0 0 intronic intronic intronic MIER2 MIER2 ENSG00000105556 Na Na Na Na Na Na Het;G>A 162;5|6 Ref Hom;G>A 163;0|5 N N - 19 33597495 33597495 C G snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs35492529 0.194089 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;C>G 55;9|4 Het;C>G 233;2|8 Hom;C>G 185;0|6 N N - 19 33597816 33597816 T C snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs10408093 0.533546 0.4243 0.3751 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;T>C 1133;62|51 Het;T>C 935;56|44 Hom;T>C 3222;2|119 N N - 19 33597930 33597930 C A snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs3760893 0.533546 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;C>A 126;15|6 Het;C>A 88;8|4 Hom;C>A 161;0|5 N N - 19 33600764 33600764 T C snp nonsynonymous SNV T1427C L476P aliphatic,hydrophobic,neutral hydrophobic,neutral GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs2287679 0.533546 0.4229 0.3712 0.15 2 13 exonic exonic exonic GPATCH1 GPATCH1 ENSG00000076650 nonsynonymous SNV nonsynonymous SNV unknown GPATCH1:NM_018025:exon11:c.T1427C:p.L476P, GPATCH1:uc002nug.1:exon11:c.T1427C:p.L476P, UNKNOWN Het;T>C 1725;68|75 Het;T>C 1161;59|55 Hom;T>C 3257;0|117 N N - 19 33602757 33602757 C T snp synonymous SNV C1713T H571H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs10420258 0.203474 0.1396 0.1709 1 0 0 exonic exonic exonic GPATCH1 GPATCH1 ENSG00000076650 synonymous SNV synonymous SNV unknown GPATCH1:NM_018025:exon12:c.C1713T:p.H571H, GPATCH1:uc002nug.1:exon12:c.C1713T:p.H571H, UNKNOWN Het;C>T 1380;52|63 Het;C>T 931;43|46 Hom;C>T 2602;2|97 N N - 19 33602881 33602881 C T snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs3786933 0.533546 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;C>T 300;7|12 Ref Hom;C>T 262;0|9 N N - 19 33603288 33603289 AC A indel intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs3837972 0.238618 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;-C 241;12|10 Het;-C 141;3|6 Hom;-C 271;0|9 N N - 19 33605300 33605300 A G snp nonsynonymous SNV A302G H101R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs10416265 0.592452 0.4077 0.4063 0.08 1 13 exonic exonic exonic GPATCH1 GPATCH1 ENSG00000076650 nonsynonymous SNV nonsynonymous SNV unknown GPATCH1:NM_018025:exon15:c.A2171G:p.H724R, GPATCH1:uc002nuh.1:exon2:c.A302G:p.H101R,GPATCH1:uc002nug.1:exon15:c.A2171G:p.H724R, UNKNOWN Het;A>G 1005;45|45 Het;A>G 640;41|30 Hom;A>G 1247;0|48 N N - 19 33605312 33605312 T C snp nonsynonymous SNV T314C L105S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs10421769 0.770168 0.5361 0.5403 0.23 3 13 exonic exonic exonic GPATCH1 GPATCH1 ENSG00000076650 nonsynonymous SNV nonsynonymous SNV unknown GPATCH1:NM_018025:exon15:c.T2183C:p.L728S, GPATCH1:uc002nuh.1:exon2:c.T314C:p.L105S,GPATCH1:uc002nug.1:exon15:c.T2183C:p.L728S, UNKNOWN Het;T>C 1002;36|42 Het;T>C 654;38|28 Hom;T>C 1154;0|43 N N - 19 33608566 33608566 G A snp intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs2287680 0.510383 0 0 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;G>A 341;32|20 Het;G>A 546;22|25 Hom;G>A 1095;0|43 N N - 19 33608733 33608733 C A snp synonymous SNV C2199A T733T polar,hydrophilic,neutral polar,hydrophilic,neutral GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs2287681 0.361422 0.2505 0.2996 1 0 0 exonic exonic exonic GPATCH1 GPATCH1 ENSG00000076650 synonymous SNV synonymous SNV unknown GPATCH1:NM_018025:exon16:c.C2199A:p.T733T, GPATCH1:uc002nuh.1:exon3:c.C330A:p.T110T,GPATCH1:uc002nug.1:exon16:c.C2199A:p.T733T, UNKNOWN Het;C>A 1233;70|55 Het;C>A 802;72|38 Hom;C>A 2516;0|91 N N - 19 33620993 33620993 T TCC indel intronic GPATCH1 Gpatch1 ENSG00000076650 G-patch domain containing 1 chr19:33571786-33621448 Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPATCH1 https://www.uniprot.org/uniprot/Q9BRR8 http://www.informatics.jax.org/searchtool/Search.do?query=GPATCH1&submit=Quick%0D%1590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPATCH1 rs35506888 0.685304 0.5375 0.4991 1 0 0 intronic intronic intronic GPATCH1 GPATCH1 ENSG00000076650 Na Na Na Na Na Na Het;+CC 509;12|14 Het;+CC 335;16|10 Hom;+CC 503;0|12 N N - 19 34838998 34838998 C T snp intronic KIAA0355 4931406P16Rik ENSG00000282735 KIAA0355 chr19:34745442-34846491 Tobacco Use Disorder; Bipolar Disorder; Lipids http://www.genecards.org/index.php?path=/Search/keyword/KIAA0355 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0355&submit=Quick%0D%22592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0355 rs328406 0.288538 0.2041 0.2551 1 0 0 intronic intronic intronic KIAA0355 KIAA0355 ENSG00000166398 Na Na Na Na Na Na Het;C>T 533;32|24 Het;C>T 538;26|26 Hom;C>T 1606;0|58 N N - 19 34842488 34842488 T C snp synonymous SNV T2895C D965D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KIAA0355 4931406P16Rik ENSG00000282735 KIAA0355 chr19:34745442-34846491 Tobacco Use Disorder; Bipolar Disorder; Lipids http://www.genecards.org/index.php?path=/Search/keyword/KIAA0355 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0355&submit=Quick%0D%22592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0355 rs392340 0.602636 0.4536 0.4506 1 0 0 exonic exonic exonic KIAA0355 KIAA0355 ENSG00000166398 synonymous SNV synonymous SNV unknown KIAA0355:NM_014686:exon13:c.T2895C:p.D965D, KIAA0355:uc002nvd.4:exon13:c.T2895C:p.D965D, UNKNOWN Het;T>C 934;34|42 Het;T>C 1081;29|50 Hom;T>C 1735;2|68 N N - 19 34843761 34843761 C A snp synonymous SNV C3114A P1038P hydrophobic,neutral hydrophobic,neutral KIAA0355 4931406P16Rik ENSG00000282735 KIAA0355 chr19:34745442-34846491 Tobacco Use Disorder; Bipolar Disorder; Lipids http://www.genecards.org/index.php?path=/Search/keyword/KIAA0355 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0355&submit=Quick%0D%22592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0355 rs397414 0.629792 0.5140 0.5912 1 0 0 exonic exonic exonic KIAA0355 KIAA0355 ENSG00000166398 synonymous SNV synonymous SNV unknown KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P, KIAA0355:uc002nvd.4:exon14:c.C3114A:p.P1038P, UNKNOWN Het;C>A 1810;26|74 Het;C>A 1154;30|56 Hom;C>A 2924;1|111 N N - 19 34843874 34843882 AGCCTGCCT A indel UTR3 *14_*22delinsA KIAA0355 4931406P16Rik ENSG00000282735 KIAA0355 chr19:34745442-34846491 Tobacco Use Disorder; Bipolar Disorder; Lipids http://www.genecards.org/index.php?path=/Search/keyword/KIAA0355 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0355&submit=Quick%0D%22592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0355 rs374447771 0.643371 0.5090 0.5264 1 0 0 UTR3 UTR3 ncRNA_intronic KIAA0355(NM_014686:c.*14_*22delinsA) KIAA0355(uc002nvd.4:c.*14_*22delinsA) ENSG00000267219 Na Na Na Na Na Na Het;-GCCTGCCT 995;24|28 Het;-GCCTGCCT 826;30|23 Hom;-GCCTGCCT 1742;0|40 N N - 19 34859457 34859457 G A snp UTR3 *1383G>A GPI Gpi1 ENSG00000282019 glucose-6-phosphate isomerase chr19:34850385-34893061 This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] hereditary nonspherocytic hemolytic anemia (HNSHA).; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms Homozygotes for null mutations fail to develop beyond the egg cylinder stage and die by embryonic day 9.5. Homozygotes for a hypomorphic mutation exhibit nonspherocytic hemolytic anemia with hepatosplenomegaly. GO:0006094;gluconeogenesis;IEA|GO:0006096;glycolytic process;IEA GO:0004347;glucose-6-phosphate isomerase activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPI https://hpo.jax.org/app/browse/search?q=GPI&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=172400 http://www.informatics.jax.org/searchtool/Search.do?query=GPI&submit=Quick%0D%22382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPI rs2099099 0.685903 0.5502 0.5124 1 0 0 intronic UTR3 intronic GPI GPI(uc002nvh.1:c.*1383G>A) ENSG00000105220 Na Na Na Na Na Na Het;G>A 630;30|29 Het;G>A 835;28|38 Hom;G>A 1499;0|57 N N - 19 34984543 34984543 T C snp intronic WTIP Wtip ENSG00000142279 WT1 interacting protein chr19:34971874-34997258 Lipids Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha GO:0001666;response to hypoxia;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0022604;regulation of cell morphogenesis;IMP|GO:0031047;gene silencing by RNA;IEA|GO:0035195;gene silencing by miRNA;IMP|GO:0035331;negative regulation of hippo signaling;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:2000637;positive regulation of gene silencing by miRNA;IMP GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005911;cell-cell junction;IBA|GO:0005912;adherens junction;IEA|GO:0030054;cell junction;IEA GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WTIP https://www.uniprot.org/uniprot/A6NIX2 https://www.ncbi.nlm.nih.gov/omim/?term=614790 http://www.informatics.jax.org/searchtool/Search.do?query=WTIP&submit=Quick%0D%8272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WTIP rs2277981 0.178914 0.0659 0.0983 1 0 0 intronic intronic intronic WTIP WTIP ENSG00000142279 Na Na Na Na Na Na Het;T>C 1166;48|54 Het;T>C 1367;36|58 Hom;T>C 1902;1|72 N N - 19 34985455 34985455 T C snp intronic WTIP Wtip ENSG00000142279 WT1 interacting protein chr19:34971874-34997258 Lipids Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha GO:0001666;response to hypoxia;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0022604;regulation of cell morphogenesis;IMP|GO:0031047;gene silencing by RNA;IEA|GO:0035195;gene silencing by miRNA;IMP|GO:0035331;negative regulation of hippo signaling;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:2000637;positive regulation of gene silencing by miRNA;IMP GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005911;cell-cell junction;IBA|GO:0005912;adherens junction;IEA|GO:0030054;cell junction;IEA GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WTIP https://www.uniprot.org/uniprot/A6NIX2 https://www.ncbi.nlm.nih.gov/omim/?term=614790 http://www.informatics.jax.org/searchtool/Search.do?query=WTIP&submit=Quick%0D%8272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WTIP rs16969368 0.176518 0.0699 0.1148 1 0 0 intronic intronic intronic WTIP WTIP ENSG00000142279 Na Na Na Na Na Na Het;T>C 426;21|20 Het;T>C 503;11|21 Hom;T>C 596;0|22 N N - 19 35513896 35513896 C T snp ncRNA_intronic AC020907.4 rs4806072 0.441294 0 0 1 0 0 intronic intronic ncRNA_intronic GRAMD1A GRAMD1A ENSG00000271032 Na Na Na Na Na Na Het;C>T 198;6|14 Het;C>T 140;13|9 Hom;C>T 361;0|16 N N - 19 35556300 35556300 A G snp ncRNA_intronic HPN-AS1 rs2305746 0.823083 0.8940 0.8959 1 0 0 ncRNA_intronic intronic ncRNA_intronic HPN-AS1 HPN,HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;A>G 983;39|43 Het;A>G 754;31|34 Hom;A>G 1592;0|43 N N - 19 35556640 35556640 T C snp ncRNA_intronic HPN-AS1 rs1688031 0.657348 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic HPN-AS1 HPN,HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;T>C 1362;64|61 Het;T>C 1282;53|52 Hom;T>C 2220;0|81 N N - 19 35556659 35556659 A G snp ncRNA_intronic HPN-AS1 rs1672991 0.823482 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic HPN-AS1 HPN,HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;A>G 1187;53|46 Het;A>G 1098;44|47 Hom;A>G 1798;0|61 N N - 19 35556715 35556716 GT G indel ncRNA_intronic HPN-AS1 rs3835126 0.657149 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic HPN-AS1 HPN,HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;-T 1332;52|43 Het;-T 1444;37|44 Hom;-T 2003;0|53 N N - 19 35556729 35556729 C T snp ncRNA_intronic HPN-AS1 rs1672992 0.657348 0.7056 0.7957 1 0 0 ncRNA_intronic intronic ncRNA_intronic HPN-AS1 HPN,HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;C>T 1261;47|49 Het;C>T 1079;40|45 Hom;C>T 2000;0|64 N N - 19 35556744 35556744 T C snp ncRNA_intronic HPN-AS1 rs1688030 0.823482 0.8940 0.8941 1 0 0 ncRNA_intronic intronic ncRNA_intronic HPN-AS1 HPN,HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;T>C 1500;50|59 Het;T>C 1055;47|42 Hom;T>C 2571;0|82 N N - 19 35557260 35557260 T G snp UTR3 *69T>G HPN Hpn ENSG00000105707 hepsin chr19:35531410-35557475 This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Aneurysm, Ruptured|Aortic Aneurysm, Abdominal|Intracranial Aneurysm|Subarachnoid Hemorrhage; prostate cancer Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. Signaling by MST1 GO:0006508;proteolysis;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010628;positive regulation of gene expression;ISS|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010756;positive regulation of plasminogen activation;IDA|GO:0030307;positive regulation of cell growth;IMP|GO:0034769;basement membrane disassembly;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043923;positive regulation by host of viral transcription;IDA|GO:0048012;hepatocyte growth factor receptor signaling pathway;TAS|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;ISS|GO:0071805;potassium ion transmembrane transport;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097066;response to thyroid hormone;ISS|GO:0097195;pilomotor reflex;ISS|GO:2000347;positive regulation of hepatocyte proliferation;IDA|GO:2000611;positive regulation of thyroid hormone generation;ISS GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005911;cell-cell junction;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0043025;neuronal cell body;ISS|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0015269;calcium-activated potassium channel activity;ISS|GO:0016787;hydrolase activity;IEA|GO:0070008;serine-type exopeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HPN https://www.uniprot.org/uniprot/P05981 https://www.ncbi.nlm.nih.gov/omim/?term=142440 http://www.informatics.jax.org/searchtool/Search.do?query=HPN&submit=Quick%0D%3374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPN rs1042328 0.532748 0.5727 0 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic HPN-AS1 HPN(uc002nxq.2:c.*69T>G,uc002nxr.2:c.*69T>G,uc010xsh.1:c.*273T>G,uc002nxt.1:c.*273T>G) ENSG00000227392 Na Na Na Na Na Na Het;T>G 537;13|21 Het;T>G 456;17|20 Hom;T>G 1041;0|34 N N - 19 35565465 35565465 T C snp ncRNA_exonic HPN-AS1 rs7253506 0.674521 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic HPN-AS1 HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;T>C 2326;124|104 Het;T>C 1987;98|86 Hom;T>C 4308;0|147 N N - 19 35565552 35565552 T C snp ncRNA_exonic HPN-AS1 rs7253620 0.673522 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic HPN-AS1 HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;T>C 2967;161|138 Het;T>C 2725;158|125 Hom;T>C 5669;2|212 N N - 19 35565726 35565726 T C snp ncRNA_exonic HPN-AS1 rs11882294 0.663139 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic HPN-AS1 HPN-AS1 ENSG00000227392 Na Na Na Na Na Na Het;T>C 1971;98|87 Het;T>C 1683;83|76 Hom;T>C 3776;0|139 N N - 19 35719257 35719257 G A snp synonymous SNV C327T D109D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) FAM187B Fam187b ENSG00000177558 family with sequence similarity 187 member B chr19:35715703-35719632 Coronary Artery Disease; Calcium GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM187B http://www.informatics.jax.org/searchtool/Search.do?query=FAM187B&submit=Quick%0D%14047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM187B rs11673347 0.284145 0.4635 0.4703 1 0 0 exonic exonic exonic FAM187B FAM187B ENSG00000177558 synonymous SNV synonymous SNV unknown FAM187B:NM_152481:exon1:c.C327T:p.D109D, FAM187B:uc002nyk.1:exon1:c.C327T:p.D109D, UNKNOWN Het;G>A 1978;85|90 Het;G>A 1224;71|56 Hom;G>A 3506;0|124 N N - 19 35741456 35741456 T C snp synonymous SNV T492C V164V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LSR Lsr ENSG00000105699 lipolysis stimulated lipoprotein receptor chr19:35739233-35758867 Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. VLDL clearance GO:0001889;liver development;ISS|GO:0019216;regulation of lipid metabolic process;IEA|GO:0060856;establishment of blood-brain barrier;IEA|GO:0061833;protein localization to tricellular tight junction;IEA|GO:1904274;tricellular tight junction assembly;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034361;very-low-density lipoprotein particle;IEA|GO:0034362;low-density lipoprotein particle;IEA|GO:0042627;chylomicron;IEA|GO:0061689;tricellular tight junction;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/LSR https://www.uniprot.org/uniprot/Q86X29 https://www.ncbi.nlm.nih.gov/omim/?term=616582 http://www.informatics.jax.org/searchtool/Search.do?query=LSR&submit=Quick%0D%3370ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSR rs2073900 0.563898 0.6455 0.6816 1 0 0 exonic exonic exonic LSR LSR ENSG00000105699 synonymous SNV synonymous SNV unknown LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V, LSR:uc002nyp.3:exon2:c.T381C:p.V127V,LSR:uc002nyo.3:exon2:c.T492C:p.V164V,LSR:uc002nyn.3:exon2:c.T492C:p.V164V,LSR:uc002nym.3:exon2:c.T492C:p.V164V,LSR:uc010xsr.2:exon2:c.T492C:p.V164V,LSR:uc002nyl.3:exon2:c.T492C:p.V164V, UNKNOWN Het;T>C 2407;151|108 Het;T>C 2925;103|118 Hom;T>C 6408;4|234 N N - 19 35757250 35757250 G A snp intronic LSR Lsr ENSG00000105699 lipolysis stimulated lipoprotein receptor chr19:35739233-35758867 Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. VLDL clearance GO:0001889;liver development;ISS|GO:0019216;regulation of lipid metabolic process;IEA|GO:0060856;establishment of blood-brain barrier;IEA|GO:0061833;protein localization to tricellular tight junction;IEA|GO:1904274;tricellular tight junction assembly;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034361;very-low-density lipoprotein particle;IEA|GO:0034362;low-density lipoprotein particle;IEA|GO:0042627;chylomicron;IEA|GO:0061689;tricellular tight junction;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/LSR https://www.uniprot.org/uniprot/Q86X29 https://www.ncbi.nlm.nih.gov/omim/?term=616582 http://www.informatics.jax.org/searchtool/Search.do?query=LSR&submit=Quick%0D%3370ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSR rs916147 0.238419 0.3350 0.3449 1 0 0 intronic intronic intronic LSR LSR ENSG00000105699 Na Na Na Na Na Na Het;G>A 518;46|23 Het;G>A 400;21|21 Hom;G>A 1539;0|56 N N - 19 35843086 35843086 G A snp nonsynonymous SNV G632A R211H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) FFAR1 Ffar1 ENSG00000126266 free fatty acid receptor 1 chr19:35842445-35843367 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009] insulin; diabetes, type 2; glucose tolerance; insulin; Obesity; Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 2 There are conflicting reports on the metabolic affects of disrupting this gene. Glucose metabolism lipid levels have been studied. Free fatty acid receptors GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0030073;insulin secretion;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0070542;response to fatty acid;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0008289;lipid binding;IEA|GO:0045125;bioactive lipid receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FFAR1 https://www.uniprot.org/uniprot/O14842 https://www.ncbi.nlm.nih.gov/omim/?term=603820 http://www.informatics.jax.org/searchtool/Search.do?query=FFAR1&submit=Quick%0D%5930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FFAR1 rs2301151 0.879593 0.8372 0.8263 0.08 1 13 exonic exonic exonic FFAR1 FFAR1 ENSG00000126266 nonsynonymous SNV nonsynonymous SNV unknown FFAR1:NM_005303:exon1:c.G632A:p.R211H, FFAR1:uc002nzc.2:exon1:c.G632A:p.R211H, UNKNOWN Het;G>A 1846;90|79 Het;G>A 1593;62|66 Hom;G>A 3768;0|133 N N - 19 35889429 35889429 C A snp upstream LINC01531 rs12978607 0.63778 0 0 1 0 0 intergenic intergenic upstream FFAR3(dist=38040),LINC01531(dist=7080) FFAR3(dist=26128),LOC100128682(dist=7080) ENSG00000205786 Na Na Na Na Na Na Het;C>A 264;6|11 Het;C>A 252;4|11 Hom;C>A 394;0|14 N N - 19 35889515 35889515 C T snp upstream LINC01531 rs12978834 0.63778 0 0 1 0 0 intergenic intergenic upstream FFAR3(dist=38126),LINC01531(dist=6994) FFAR3(dist=26214),LOC100128682(dist=6994) ENSG00000205786 Na Na Na Na Na Na Het;C>T 392;10|18 Het;C>T 422;4|20 Hom;C>T 767;0|31 N N - 19 35896594 35896594 A G snp ncRNA_intronic LOC100128682 rs4805126 0.706869 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01531 LOC100128682 ENSG00000205786 Na Na Na Na Na Na Het;A>G 761;52|36 Het;A>G 798;62|42 Hom;A>G 2643;0|99 N N - 19 3592855 3592855 A C snp UTR3 *2667A>C GIPC3 Gipc3 ENSG00000179855 GIPC PDZ domain containing family member 3 chr19:3585551-3593539 The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011] breast cancer http://www.genecards.org/index.php?path=/Search/keyword/GIPC3 https://hpo.jax.org/app/browse/search?q=GIPC3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608792 http://www.informatics.jax.org/searchtool/Search.do?query=GIPC3&submit=Quick%0D%14392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GIPC3 rs10411250 0.382388 0 0 1 0 0 UTR3 UTR3 UTR3 GIPC3(NM_133261:c.*2667A>C) GIPC3(uc002lyd.4:c.*2667A>C) ENSG00000179855(ENST00000322315:c.*2667A>C) Na Na Na Na Na Na Het;A>C 77;4|5 Ref Hom;A>C 64;0|3 N N - 19 3595794 3595794 A G snp synonymous SNV T924C Y308Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic TBXA2R Tbxa2r ENSG00000006638 thromboxane A2 receptor chr19:3594504-3606838 This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Asthma; Alzheimer's disease ; Asthma|; epithelial ovarian cancer ; asthma; Type 2 Diabetes| edema | rosiglitazone; asthma asthma, aspirin-intolerant; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; cerebral infarct, atherosclerotic; dermatitis, atopic; Cerebral Infarction Homozygotes for a null allele show prolonged bleeding, and altered platelet aggregation and vascular responses to TXA2, arachidonic acid and injury. Homozygotes for another null allele show splenomegaly, reduced DC-T cell adhesion, enhanced contact hypersensitivity, and cervical lymphadenopathy. Thromboxane signalling through TP receptor GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0030194;positive regulation of blood coagulation;IEA|GO:0033574;response to testosterone;IEA|GO:0038193;thromboxane A2 signaling pathway;IEA|GO:0042493;response to drug;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045471;response to ethanol;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045777;positive regulation of blood pressure;IBA|GO:0045907;positive regulation of vasoconstriction;IBA|GO:0071222;cellular response to lipopolysaccharide;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004960;thromboxane receptor activity;IEA|GO:0004961;thromboxane A2 receptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TBXA2R https://www.uniprot.org/uniprot/P21731 https://www.ncbi.nlm.nih.gov/omim/?term=188070 http://www.informatics.jax.org/searchtool/Search.do?query=TBXA2R&submit=Quick%0D%412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBXA2R rs4523 0.541733 0.7032 0.5982 0.43 3 7 exonic exonic exonic TBXA2R TBXA2R ENSG00000006638 synonymous SNV synonymous SNV unknown TBXA2R:NM_001060:exon3:c.T924C:p.Y308Y,TBXA2R:NM_201636:exon3:c.T924C:p.Y308Y, TBXA2R:uc002lyg.2:exon3:c.T924C:p.Y308Y,TBXA2R:uc021umv.1:exon3:c.T924C:p.Y308Y, UNKNOWN Het;A>G 2196;75|92 Het;A>G 1330;71|62 Hom;A>G 4000;1|144 N N - 19 3612914 3612914 T C snp ncRNA_exonic CACTIN-AS1 rs6510763 0.709065 0 0.6570 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic CACTIN-AS1 CACTIN-AS1(uc021umw.1:c.*6T>C) ENSG00000226800 Na Na Na Na Na Na Het;T>C 2692;70|112 Het;T>C 1561;74|70 Hom;T>C 4116;2|157 N N - 19 36167073 36167073 T TTTTCTTTCTTTCTTTCTTTC indel intronic UPK1A Upk1a ENSG00000105668 uroplakin 1A chr19:36157715-36169367 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] vesicoureteral reflux GO:0007166;cell surface receptor signaling pathway;IBA|GO:0030855;epithelial cell differentiation;IDA|GO:0051259;protein oligomerization;ISS GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;ISS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/UPK1A https://www.uniprot.org/uniprot/O00322 https://www.ncbi.nlm.nih.gov/omim/?term=611557 http://www.informatics.jax.org/searchtool/Search.do?query=UPK1A&submit=Quick%0D%3358ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UPK1A Na 0 0 0 1 0 0 intronic intronic intronic UPK1A UPK1A ENSG00000105668 Na Na Na Na Na Na Het;+TTTCTTTCTTTCTTTCTTTC 37;2|2 Ref Hom;+TTTCTTTCTTTCTTTCTTTC 96;0|3 N N - 19 36269915 36269915 T C snp intronic ARHGAP33 Arhgap33 ENSG00000004777 Rho GTPase activating protein 33 chr19:36265434-36279724 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] plasma HDL cholesterol (HDL-C) levels Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. Rho GTPase cycle GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IBA|GO:0015629;actin cytoskeleton;IBA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP33 https://www.uniprot.org/uniprot/O14559 https://www.ncbi.nlm.nih.gov/omim/?term=614902 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP33&submit=Quick%0D%325ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP33 rs231230 0.563698 0.4214 0.4199 1 0 0 intronic intronic intronic ARHGAP33 ARHGAP33 ENSG00000004777 Na Na Na Na Na Na Het;T>C 902;62|42 Het;T>C 627;66|30 Hom;T>C 2639;0|96 N N - 19 36270052 36270052 A G snp nonsynonymous SNV A581G D194G polar,hydrophilic,charged(-) aliphatic,neutral ARHGAP33 Arhgap33 ENSG00000004777 Rho GTPase activating protein 33 chr19:36265434-36279724 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] plasma HDL cholesterol (HDL-C) levels Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. Rho GTPase cycle GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IBA|GO:0015629;actin cytoskeleton;IBA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP33 https://www.uniprot.org/uniprot/O14559 https://www.ncbi.nlm.nih.gov/omim/?term=614902 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP33&submit=Quick%0D%325ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP33 rs231231 0.577676 0.4443 0.4471 1 0 0 intronic exonic intronic ARHGAP33 ARHGAP33 ENSG00000004777 Na nonsynonymous SNV Na Na ARHGAP33:uc010eek.2:exon5:c.A581G:p.D194G, Na Het;A>G 1115;60|49 Het;A>G 955;48|42 Hom;A>G 3110;0|110 N N - 19 36316225 36316229 AAGGG A indel downstream NPHS1 Nphs1 ENSG00000161270 NPHS1, nephrin chr19:36316866-36360189 This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] Glomerulonephritis, IGA; Hyperparathyroidism, Secondary; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Nephrotic Syndrome; amyotrophic lateral sclerosis.; congenital nephrosis; AIDS-Associated Nephropathy|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Type 2 Diabetes| edema | rosiglitazone; hypertension; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies; Ig A nephropathy; nephrotic syndrome; nephropathy; Kidney Diseases; nephropathy in other diseases; minimal change nephrotic syndrome; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous|Haematuria|Hematuria|Proteinuria Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000165;MAPK cascade;IEA|GO:0007155;cell adhesion;TAS|GO:0007254;JNK cascade;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0007588;excretion;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0032836;glomerular basement membrane development;IEP|GO:0035418;protein localization to synapse;IGI|GO:0044062;regulation of excretion;IEA|GO:0072015;glomerular visceral epithelial cell development;IEP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036057;slit diaphragm;ISS|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPHS1 https://hpo.jax.org/app/browse/search?q=NPHS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602716 http://www.informatics.jax.org/searchtool/Search.do?query=NPHS1&submit=Quick%0D%10570ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHS1 rs138102710 0.154153 0 0 1 0 0 downstream downstream downstream NPHS1 NPHS1 ENSG00000161270 Na Na Na Na Na Na Het;-AGGG 266;6|9 Het;-AGGG 174;5|6 Hom;-AGGG 136;0|4 N N - 19 36322509 36322509 G A snp intronic NPHS1 Nphs1 ENSG00000161270 NPHS1, nephrin chr19:36316866-36360189 This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] Glomerulonephritis, IGA; Hyperparathyroidism, Secondary; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Nephrotic Syndrome; amyotrophic lateral sclerosis.; congenital nephrosis; AIDS-Associated Nephropathy|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Type 2 Diabetes| edema | rosiglitazone; hypertension; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies; Ig A nephropathy; nephrotic syndrome; nephropathy; Kidney Diseases; nephropathy in other diseases; minimal change nephrotic syndrome; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous|Haematuria|Hematuria|Proteinuria Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000165;MAPK cascade;IEA|GO:0007155;cell adhesion;TAS|GO:0007254;JNK cascade;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0007588;excretion;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0032836;glomerular basement membrane development;IEP|GO:0035418;protein localization to synapse;IGI|GO:0044062;regulation of excretion;IEA|GO:0072015;glomerular visceral epithelial cell development;IEP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036057;slit diaphragm;ISS|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPHS1 https://hpo.jax.org/app/browse/search?q=NPHS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602716 http://www.informatics.jax.org/searchtool/Search.do?query=NPHS1&submit=Quick%0D%10570ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHS1 rs466452 0.390575 0.3945 0.3353 1 0 0 intronic intronic intronic NPHS1 NPHS1 ENSG00000161270 Na Na Na Na Na Na Het;G>A 825;23|34 Het;G>A 878;36|42 Hom;G>A 2243;1|79 N N - 19 36322601 36322601 T C snp nonsynonymous SNV A3230G N1077S polar,hydrophilic,neutral polar,hydrophilic,neutral NPHS1 Nphs1 ENSG00000161270 NPHS1, nephrin chr19:36316866-36360189 This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] Glomerulonephritis, IGA; Hyperparathyroidism, Secondary; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Nephrotic Syndrome; amyotrophic lateral sclerosis.; congenital nephrosis; AIDS-Associated Nephropathy|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Type 2 Diabetes| edema | rosiglitazone; hypertension; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies; Ig A nephropathy; nephrotic syndrome; nephropathy; Kidney Diseases; nephropathy in other diseases; minimal change nephrotic syndrome; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous|Haematuria|Hematuria|Proteinuria Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000165;MAPK cascade;IEA|GO:0007155;cell adhesion;TAS|GO:0007254;JNK cascade;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0007588;excretion;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0032836;glomerular basement membrane development;IEP|GO:0035418;protein localization to synapse;IGI|GO:0044062;regulation of excretion;IEA|GO:0072015;glomerular visceral epithelial cell development;IEP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036057;slit diaphragm;ISS|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPHS1 https://hpo.jax.org/app/browse/search?q=NPHS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602716 http://www.informatics.jax.org/searchtool/Search.do?query=NPHS1&submit=Quick%0D%10570ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHS1 rs4806213 0.0924521 0.1060 0.1381 0.15 2 13 exonic exonic exonic NPHS1 NPHS1 ENSG00000161270 nonsynonymous SNV nonsynonymous SNV unknown NPHS1:NM_004646:exon24:c.A3230G:p.N1077S, NPHS1:uc002oby.3:exon24:c.A3230G:p.N1077S, UNKNOWN Het;T>C 1374;69|69 Het;T>C 1531;99|77 Hom;T>C 5121;1|191 N N - 19 3633273 3633273 G C snp intronic PIP5K1C Pip5k1c ENSG00000186111 phosphatidylinositol-4-phosphate 5-kinase type 1 gamma chr19:3630181-3700477 This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010] HIV Infections|[X]Human immunodeficiency virus disease Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects. Clathrin-mediated endocytosis GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016079;synaptic vesicle exocytosis;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;TAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0034333;adherens junction assembly;TAS|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048488;synaptic vesicle endocytosis;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS GO:0001891;phagocytic cup;IEA|GO:0001931;uropod;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005925;focal adhesion;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0052811;1-phosphatidylinositol-3-phosphate 4-kinase activity;TAS|GO:0052812;phosphatidylinositol-3,4-bisphosphate 5-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIP5K1C https://hpo.jax.org/app/browse/search?q=PIP5K1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606102 http://www.informatics.jax.org/searchtool/Search.do?query=PIP5K1C&submit=Quick%0D%15570ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIP5K1C rs542690 0.296725 0 0 1 0 0 intronic intronic intronic PIP5K1C PIP5K1C ENSG00000186111 Na Na Na Na Na Na Het;G>C 354;15|13 Het;G>C 315;6|13 Hom;G>C 872;0|33 N N - 19 36758831 36758831 G A snp intergenic ZNF146 Zfp146 ENSG00000167635 zinc finger protein 146 chr19:36705504-36729676 Arteries GO:0006355;regulation of transcription, DNA-templated;TAS GO:0005634;nucleus;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008201;heparin binding;TAS|GO:0008270;zinc ion binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF146 https://www.ncbi.nlm.nih.gov/omim/?term=601505 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF146&submit=Quick%0D%12065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF146 rs4806291 0.57488 0 0 1 0 0 intergenic intergenic intergenic ZNF146(dist=29156),LOC100134317(dist=43414) ZNF146(dist=29156),LOC100134317(dist=43414) ENSG00000196357(dist=21672),ENSG00000267053(dist=36651) Na Na Na Na Na Na Het;G>A 41;6|4 Het;G>A 168;7|10 Hom;G>A 422;0|16 N N - 19 36758897 36758897 C T snp intergenic ZNF146 Zfp146 ENSG00000167635 zinc finger protein 146 chr19:36705504-36729676 Arteries GO:0006355;regulation of transcription, DNA-templated;TAS GO:0005634;nucleus;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008201;heparin binding;TAS|GO:0008270;zinc ion binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF146 https://www.ncbi.nlm.nih.gov/omim/?term=601505 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF146&submit=Quick%0D%12065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF146 rs4806292 0.722444 0 0 1 0 0 intergenic intergenic intergenic ZNF146(dist=29222),LOC100134317(dist=43348) ZNF146(dist=29222),LOC100134317(dist=43348) ENSG00000196357(dist=21738),ENSG00000267053(dist=36585) Na Na Na Na Na Na Het;C>T 73;7|5 Het;C>T 181;7|10 Hom;C>T 529;0|21 N N - 19 36801042 36801042 G T snp ncRNA_intronic AC012617.1 rs2918340 0.55611 0 0 1 0 0 intergenic intergenic ncRNA_intronic ZNF146(dist=71367),LOC100134317(dist=1203) ZNF146(dist=71367),LOC100134317(dist=1203) ENSG00000267053 Na Na Na Na Na Na Het;G>T 70;6|3 Het;G>T 47;2|2 Hom;G>T 135;0|4 N N - 19 36801712 36801712 G C snp ncRNA_exonic AC012617.1 rs2972646 0.600439 0 0 1 0 0 upstream upstream ncRNA_exonic LOC100134317 LOC100134317 ENSG00000267053 Na Na Na Na Na Na Het;G>C 742;65|41 Het;G>C 925;49|43 Hom;G>C 2157;3|80 N N - 19 37442078 37442078 T C snp UTR3 *88T>C ZNF568 Zfp74 ENSG00000198453 zinc finger protein 568 chr19:37407231-37489602 Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Breath Tests; Cholesterol, HDL Homozygous null mutants are embryonic lethal with growth arrest around E8.5-9.0. Mutant embryo shows shortened anterior-posterior axial extension with defects in somites and midline structures including open gut tube, cardia bifida, and failure to closeneural tube. Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF568 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF568&submit=Quick%0D%16897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF568 rs4806380 0.216853 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF568(NM_198539:c.*88T>C,NM_001204837:c.*88T>C,NM_001204836:c.*88T>C,NM_001204835:c.*88T>C) ZNF568(uc002ofc.3:c.*88T>C,uc021uts.1:c.*88T>C,uc002ofd.3:c.*88T>C,uc010efe.3:c.*88T>C) ENSG00000198453(ENST00000415168:c.*88T>C) Na Na Na Na Na Na Het;T>C 255;3|9 Ref Hom;T>C 198;0|7 N N - 19 38377409 38377409 A T snp nonsynonymous SNV T6785A V2262E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) WDR87 ENSG00000171804 WD repeat domain 87 chr19:38375463-38397317 http://www.genecards.org/index.php?path=/Search/keyword/WDR87 http://www.informatics.jax.org/searchtool/Search.do?query=WDR87&submit=Quick%0D%13012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR87 rs7252765 1 0 0.9463 1 0 0 exonic exonic exonic WDR87 WDR87 ENSG00000171804 nonsynonymous SNV nonsynonymous SNV unknown WDR87:NM_031951:exon6:c.T6785A:p.V2262E,WDR87:NM_001291088:exon6:c.T6902A:p.V2301E, WDR87:uc010efu.2:exon6:c.T6785A:p.V2262E,WDR87:uc002ohj.2:exon6:c.T6902A:p.V2301E, UNKNOWN Het;A>T 477;17|18 Het;A>T 345;24|16 Hom;A>T 921;0|33 N N - 19 38861333 38861333 G A snp synonymous SNV G3381A P1127P hydrophobic,neutral hydrophobic,neutral CATSPERG Catsperg2 ENSG00000099338 cation channel sperm associated auxiliary subunit gamma chr19:38826415-38861589 CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010] Sperm Motility And Taxes GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0032570;response to progesterone;TAS|GO:0035036;sperm-egg recognition;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036128;CatSper complex;IEA|GO:0097228;sperm principal piece;IEA http://www.genecards.org/index.php?path=/Search/keyword/CATSPERG https://www.uniprot.org/uniprot/Q6ZRH7 https://www.ncbi.nlm.nih.gov/omim/?term=613452 http://www.informatics.jax.org/searchtool/Search.do?query=CATSPERG&submit=Quick%0D%2313ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CATSPERG rs1052375 0.269768 0.3898 0.4188 1 0 0 exonic exonic exonic CATSPERG CATSPERG ENSG00000099338 synonymous SNV synonymous SNV unknown CATSPERG:NM_021185:exon29:c.G3381A:p.P1127P, CATSPERG:uc002oih.4:exon29:c.G3381A:p.P1127P,CATSPERG:uc002oif.4:exon29:c.G2301A:p.P767P,CATSPERG:uc002oig.4:exon28:c.G3261A:p.P1087P, UNKNOWN Het;G>A 1613;69|71 Het;G>A 710;70|37 Hom;G>A 3808;0|132 N N - 19 38877997 38877997 G T snp intronic GGN Ggn ENSG00000179168 gametogenetin chr19:38874905-38878722 This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for this allele exhibit impaired double-strand break repair in spermatocytes. GO:0006302;double-strand break repair;IEA|GO:0007275;multicellular organism development;IEA|GO:0007276;gamete generation;ISS|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GGN https://www.ncbi.nlm.nih.gov/omim/?term=609966 http://www.informatics.jax.org/searchtool/Search.do?query=GGN&submit=Quick%0D%14305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGN rs62123482 0.264976 0 0 1 0 0 intronic intronic intronic GGN GGN ENSG00000179168 Na Na Na Na Na Na Het;G>T 54;9|3 Het;G>T 295;12|13 Hom;G>T 348;0|12 N N - 19 38931982 38931982 G T snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs3786828 0.707668 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;G>T 89;3|4 Het;G>T 40;4|3 Hom;G>T 126;0|5 N N - 19 38935280 38935280 A G snp synonymous SNV A594G L198L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs2229139 0.543331 0.6030 0.6074 1 0 0 exonic exonic exonic RYR1 RYR1 ENSG00000196218 synonymous SNV synonymous SNV unknown RYR1:NM_000540:exon7:c.A594G:p.L198L,RYR1:NM_001042723:exon7:c.A594G:p.L198L, RYR1:uc002oit.3:exon7:c.A594G:p.L198L,RYR1:uc002oiu.3:exon7:c.A594G:p.L198L, UNKNOWN Het;A>G 2005;63|86 Het;A>G 1551;97|75 Hom;A>G 3501;4|137 N N - 19 38935350 38935350 T TC indel intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs35018208 0.542931 0 0.5780 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;+C 1334;54|55 Het;+C 1441;61|60 Hom;+C 2667;1|89 N N - 19 38939408 38939408 T C snp synonymous SNV T1077C A359A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs10406027 0.903954 0.8952 0.8844 1 0 0 exonic exonic exonic RYR1 RYR1 ENSG00000196218 synonymous SNV synonymous SNV unknown RYR1:NM_000540:exon11:c.T1077C:p.A359A,RYR1:NM_001042723:exon11:c.T1077C:p.A359A, RYR1:uc002oit.3:exon11:c.T1077C:p.A359A,RYR1:uc002oiu.3:exon11:c.T1077C:p.A359A, UNKNOWN Het;T>C 982;30|39 Het;T>C 764;44|40 Hom;T>C 1851;1|72 N N - 19 38942714 38942714 G A snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs4802469 0.899161 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;G>A 62;8|3 Het;G>A 87;2|4 Hom;G>A 104;0|4 N N - 19 38945851 38945851 T C snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs7254832 0.901957 0.8924 0.8799 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;T>C 935;62|41 Het;T>C 783;37|31 Hom;T>C 1771;0|67 N N - 19 38946182 38946182 G A snp synonymous SNV G1668A S556S polar,hydrophilic,neutral polar,hydrophilic,neutral RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs2288888 0.571286 0.6321 0.6366 1 0 0 exonic exonic exonic RYR1 RYR1 ENSG00000196218 synonymous SNV synonymous SNV unknown RYR1:NM_000540:exon15:c.G1668A:p.S556S,RYR1:NM_001042723:exon15:c.G1668A:p.S556S, RYR1:uc002oit.3:exon15:c.G1668A:p.S556S,RYR1:uc002oiu.3:exon15:c.G1668A:p.S556S, UNKNOWN Het;G>A 2635;124|116 Het;G>A 1842;116|89 Hom;G>A 5595;0|202 N N - 19 38946215 38946215 G C snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs2288889 0.571885 0.6329 0.6370 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;G>C 2198;129|97 Het;G>C 1915;105|93 Hom;G>C 6131;0|222 N N - 19 38948356 38948356 T C snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs2071085 0.583866 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;T>C 1249;50|50 Het;T>C 776;37|34 Hom;T>C 2310;0|90 N N - 19 38949729 38949729 T G snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs4802474 0.555112 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;T>G 884;25|35 Het;T>G 389;28|18 Hom;T>G 1556;0|56 N N - 19 38949904 38949904 C T snp synonymous SNV C2286T P762P hydrophobic,neutral hydrophobic,neutral RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs3745847 0.554113 0.6170 0.6211 1 0 0 exonic exonic exonic RYR1 RYR1 ENSG00000196218 synonymous SNV synonymous SNV unknown RYR1:NM_000540:exon19:c.C2286T:p.P762P,RYR1:NM_001042723:exon19:c.C2286T:p.P762P, RYR1:uc002oit.3:exon19:c.C2286T:p.P762P,RYR1:uc002oiu.3:exon19:c.C2286T:p.P762P, UNKNOWN Het;C>T 1174;43|52 Het;C>T 777;43|36 Hom;C>T 2486;0|90 N N - 19 38950947 38950947 C T snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs2304147 0.553714 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;C>T 1171;58|51 Het;C>T 1280;46|51 Hom;C>T 2409;0|85 N N - 19 38953996 38953996 A G snp intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 rs2304148 0.802915 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;A>G 936;32|40 Het;A>G 665;49|34 Hom;A>G 2570;0|94 N N - 19 38993391 38993391 T TGGGGCAGGGGCA indel intronic RYR1 Ryr1 ENSG00000196218 ryanodine receptor 1 chr19:38924339-39078204 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Hyperparathyroidism, Secondary; fetal akinesia; Malignant Hyperthermia; Tobacco Use Disorder; central core disease; cores and rods is associated; prostate cancer; hyperthermia, malignant; neuroleptic malignant syndrome; malignant hyperthermia; Adult onset multi/minicore myopathy Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Ion homeostasis GO:0001666;response to hypoxia;IDA|GO:0003151;outflow tract morphogenesis;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006936;muscle contraction;TAS|GO:0007275;multicellular organism development;IEA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0031000;response to caffeine;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0043588;skin development;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048741;skeletal muscle fiber development;ISS|GO:0051209;release of sequestered calcium ion into cytosol;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071277;cellular response to calcium ion;ISS|GO:0071313;cellular response to caffeine;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005737;cytoplasm;IDA|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0005938;cell cortex;IDA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0014802;terminal cisterna;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;IEA|GO:0030315;T-tubule;IEA|GO:0031301;integral component of organelle membrane;ISS|GO:0031674;I band;IDA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:1990425;ryanodine receptor complex;ISS GO:0002020;protease binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;ISS|GO:0015278;calcium-release channel activity;TAS|GO:0019899;enzyme binding;IEA|GO:0048763;calcium-induced calcium release activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RYR1 https://hpo.jax.org/app/browse/search?q=RYR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180901 http://www.informatics.jax.org/searchtool/Search.do?query=RYR1&submit=Quick%0D%16291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR1 Na 0 0 0 1 0 0 intronic intronic intronic RYR1 RYR1 ENSG00000196218 Na Na Na Na Na Na Het;+GGGGCAGGGGCA 381;24|9 Het;+GGGGCAGGGGCA 96;16|4 Hom;+GGGGCAGGGGCA 744;2|17 N N - 19 39226648 39226666 AGGTCTCGGGGGTCTCGGG A indel intronic CAPN12 Capn12 ENSG00000182472 calpain 12 chr19:39220827-39260544 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] Degradation of the extracellular matrix GO:0006508;proteolysis;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPN12 https://www.ncbi.nlm.nih.gov/omim/?term=608839 http://www.informatics.jax.org/searchtool/Search.do?query=CAPN12&submit=Quick%0D%14794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN12 rs368493626 0.600439 0 0 1 0 0 intronic intronic intronic CAPN12 CAPN12 ENSG00000182472 Na Na Na Na Na Na Het;-GGTCTCGGGGGTCTCGGG 213;1|6 Ref Hom;-GGTCTCGGGGGTCTCGGG 280;0|7 N N - 19 39322087 39322087 T G snp nonsynonymous SNV A122C E41A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral ECH1 Ech1 ENSG00000282853 enoyl-CoA hydratase 1 chr19:39306062-39322645 This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ECH1 https://www.uniprot.org/uniprot/Q13011 https://www.ncbi.nlm.nih.gov/omim/?term=600696 http://www.informatics.jax.org/searchtool/Search.do?query=ECH1&submit=Quick%0D%22634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ECH1 rs9419 0.365016 0.4509 0.4727 0.08 1 12 exonic exonic exonic ECH1 ECH1,HNRNPL ENSG00000104823,ENSG00000268083 nonsynonymous SNV nonsynonymous SNV unknown ECH1:NM_001398:exon2:c.A122C:p.E41A, ECH1:uc010xuk.1:exon2:c.A122C:p.E41A,ECH1:uc002oji.3:exon2:c.A122C:p.E41A,HNRNPL:uc002ojj.1:exon6:c.A749C:p.E250A, UNKNOWN Het;T>G 1689;59|71 Het;T>G 1321;60|58 Hom;T>G 3366;0|119 N N - 19 39328145 39328145 A C snp intronic HNRNPL Hnrnpl ENSG00000282947 heterogeneous nuclear ribonucleoprotein L chr19:39327028-39342987 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. Processing of Capped Intron-Containing Pre-mRNA GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0016070;RNA metabolic process;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035770;ribonucleoprotein granule;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0097157;pre-mRNA intronic binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPL https://www.uniprot.org/uniprot/P14866 https://www.ncbi.nlm.nih.gov/omim/?term=603083 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPL&submit=Quick%0D%22655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPL rs2278010 0.338458 0.4250 0.4660 1 0 0 intronic intronic intronic HNRNPL HNRNPL ENSG00000104824,ENSG00000268083 Na Na Na Na Na Na Het;A>C 214;9|8 Het;A>C 240;5|9 Hom;A>C 257;0|7 N N - 19 39334811 39334811 T A snp intronic HNRNPL Hnrnpl ENSG00000282947 heterogeneous nuclear ribonucleoprotein L chr19:39327028-39342987 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. Processing of Capped Intron-Containing Pre-mRNA GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0016070;RNA metabolic process;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035770;ribonucleoprotein granule;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0097157;pre-mRNA intronic binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPL https://www.uniprot.org/uniprot/P14866 https://www.ncbi.nlm.nih.gov/omim/?term=603083 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPL&submit=Quick%0D%22655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPL rs2278011 0.573882 0 0 1 0 0 intronic intronic intronic HNRNPL HNRNPL ENSG00000104824 Na Na Na Na Na Na Het;T>A 260;6|8 Het;T>A 89;10|4 Hom;T>A 482;0|14 N N - 19 39334830 39334830 C T snp intronic HNRNPL Hnrnpl ENSG00000282947 heterogeneous nuclear ribonucleoprotein L chr19:39327028-39342987 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. Processing of Capped Intron-Containing Pre-mRNA GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0016070;RNA metabolic process;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035770;ribonucleoprotein granule;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0097157;pre-mRNA intronic binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPL https://www.uniprot.org/uniprot/P14866 https://www.ncbi.nlm.nih.gov/omim/?term=603083 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPL&submit=Quick%0D%22655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPL rs2278012 0.574481 0 0 1 0 0 intronic intronic intronic HNRNPL HNRNPL ENSG00000104824 Na Na Na Na Na Na Het;C>T 164;6|6 Ref Hom;C>T 267;0|8 N N - 19 39338125 39338125 G A snp intronic HNRNPL Hnrnpl ENSG00000282947 heterogeneous nuclear ribonucleoprotein L chr19:39327028-39342987 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. Processing of Capped Intron-Containing Pre-mRNA GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0016070;RNA metabolic process;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035770;ribonucleoprotein granule;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0097157;pre-mRNA intronic binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPL https://www.uniprot.org/uniprot/P14866 https://www.ncbi.nlm.nih.gov/omim/?term=603083 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPL&submit=Quick%0D%22655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPL rs862454 0.354233 0.4364 0.4696 1 0 0 intronic intronic intronic HNRNPL HNRNPL ENSG00000104824 Na Na Na Na Na Na Het;G>A 762;36|33 Het;G>A 528;31|24 Hom;G>A 2298;0|82 N N - 19 39338142 39338142 A G snp intronic HNRNPL Hnrnpl ENSG00000282947 heterogeneous nuclear ribonucleoprotein L chr19:39327028-39342987 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. Processing of Capped Intron-Containing Pre-mRNA GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0016070;RNA metabolic process;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0035770;ribonucleoprotein granule;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0097157;pre-mRNA intronic binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HNRNPL https://www.uniprot.org/uniprot/P14866 https://www.ncbi.nlm.nih.gov/omim/?term=603083 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPL&submit=Quick%0D%22655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPL rs862455 0.57488 0 0 1 0 0 intronic intronic intronic HNRNPL HNRNPL ENSG00000104824 Na Na Na Na Na Na Het;A>G 703;31|28 Het;A>G 357;22|15 Hom;A>G 2076;0|69 N N - 19 39398416 39398416 A G snp UTR3 *69A>G NFKBIB Nfkbib ENSG00000282905 NFKB inhibitor beta chr19:39390340-39399533 The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011] Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Arthritis, Rheumatoid|; pneumococcal empyema pneumonia; Lymphoma, Non-Hodgkin; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Premature Birth; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; atherosclerosis; Inflammation|Premature Birth; ovarian cancer ; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; HIV Mice homozygous for one knock-out allele exhibit decreased susceptibility to endotoxin shock and induced arthritis. TRAF6 mediated NF-kB activation GO:0006351;transcription, DNA-templated;TAS|GO:0007165;signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003713;transcription coactivator activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFKBIB https://www.uniprot.org/uniprot/Q15653 https://www.ncbi.nlm.nih.gov/omim/?term=604495 http://www.informatics.jax.org/searchtool/Search.do?query=NFKBIB&submit=Quick%0D%22646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKBIB rs3136642 0.484824 0 0 1 0 0 intronic UTR3 UTR3 NFKBIB NFKBIB(uc002ojx.3:c.*69A>G,uc002ojy.3:c.*69A>G) ENSG00000104825(ENST00000572515:c.*69A>G,ENST00000392079:c.*69A>G,ENST00000509705:c.*832A>G) Na Na Na Na Na Na Het;A>G 2531;74|99 Het;A>G 1631;78|71 Hom;A>G 4464;1|158 N N - 19 39914308 39914308 C T snp intronic PLEKHG2 Plekhg2 ENSG00000090924 pleckstrin homology and RhoGEF domain containing G2 chr19:39903225-39919054 coronary spastic angina G alpha (12/13) signalling events GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2 https://www.uniprot.org/uniprot/Q9H7P9 https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611893 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2 rs31725 0.579073 0.5200 0.5017 1 0 0 intronic intronic intronic PLEKHG2 PLEKHG2 ENSG00000090924 Na Na Na Na Na Na Het;C>T 2829;133|128 Het;C>T 2991;127|146 Hom;C>T 6082;0|233 N N - 19 39914748 39914748 G A snp nonsynonymous SNV G2309A R770K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PLEKHG2 Plekhg2 ENSG00000090924 pleckstrin homology and RhoGEF domain containing G2 chr19:39903225-39919054 coronary spastic angina G alpha (12/13) signalling events GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2 https://www.uniprot.org/uniprot/Q9H7P9 https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611893 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2 rs31726 0.575879 0.5226 0.5083 0.08 1 13 exonic exonic exonic PLEKHG2 PLEKHG2 ENSG00000090924 nonsynonymous SNV nonsynonymous SNV unknown PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K, PLEKHG2:uc010xva.2:exon15:c.G2309A:p.R770K,PLEKHG2:uc010xuy.2:exon19:c.G2798A:p.R933K,PLEKHG2:uc010xuz.2:exon19:c.G2975A:p.R992K, UNKNOWN Het;G>A 2789;119|121 Het;G>A 1524;61|62 Hom;G>A 4610;0|163 N N - 19 39915637 39915637 G A snp synonymous SNV G3864A Q1288Q polar,hydrophilic,neutral polar,hydrophilic,neutral PLEKHG2 Plekhg2 ENSG00000090924 pleckstrin homology and RhoGEF domain containing G2 chr19:39903225-39919054 coronary spastic angina G alpha (12/13) signalling events GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2 https://www.uniprot.org/uniprot/Q9H7P9 https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611893 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2 rs31727 0.596845 0.5581 0.5511 1 0 0 exonic exonic exonic PLEKHG2 PLEKHG2 ENSG00000090924 synonymous SNV synonymous SNV unknown PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q, PLEKHG2:uc010xva.2:exon15:c.G3198A:p.Q1066Q,PLEKHG2:uc010xuz.2:exon19:c.G3864A:p.Q1288Q, UNKNOWN Het;G>A 1192;70|54 Het;G>A 1331;65|59 Hom;G>A 3560;0|129 N N - 19 39915758 39915758 C G snp nonsynonymous SNV C3319G P1107A hydrophobic,neutral aliphatic,hydrophobic,neutral PLEKHG2 Plekhg2 ENSG00000090924 pleckstrin homology and RhoGEF domain containing G2 chr19:39903225-39919054 coronary spastic angina G alpha (12/13) signalling events GO:0030833;regulation of actin filament polymerization;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG2 https://www.uniprot.org/uniprot/Q9H7P9 https://hpo.jax.org/app/browse/search?q=PLEKHG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611893 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG2&submit=Quick%0D%2124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG2 rs31728 0.592252 0.5783 0.5527 0.60 6 10 exonic exonic exonic PLEKHG2 PLEKHG2 ENSG00000090924 nonsynonymous SNV nonsynonymous SNV unknown PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A, PLEKHG2:uc010xva.2:exon15:c.C3319G:p.P1107A,PLEKHG2:uc010xuz.2:exon19:c.C3985G:p.P1329A, UNKNOWN Het;C>G 845;36|34 Het;C>G 435;18|17 Hom;C>G 1075;0|35 N N - 19 39924129 39924129 T C snp UTR3 *25A>G RPS16 Rps16 ENSG00000105193 ribosomal protein S16 chr19:39923847-39926588 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Diamond-Blackfan anemia Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0042274;ribosomal small subunit biogenesis;IMP GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPS16 https://www.uniprot.org/uniprot/P62249 https://www.ncbi.nlm.nih.gov/omim/?term=603675 http://www.informatics.jax.org/searchtool/Search.do?query=RPS16&submit=Quick%0D%3246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS16 rs566130 0.654553 0.6132 0.5721 1 0 0 intronic intronic UTR3 RPS16 RPS16 ENSG00000105193(ENST00000602153:c.*25A>G) Na Na Na Na Na Na Het;T>C 1316;45|46 Het;T>C 1665;41|63 Hom;T>C 3454;0|120 N N - 19 39926057 39926057 A C snp intronic RPS16 Rps16 ENSG00000105193 ribosomal protein S16 chr19:39923847-39926588 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Diamond-Blackfan anemia Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0042274;ribosomal small subunit biogenesis;IMP GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPS16 https://www.uniprot.org/uniprot/P62249 https://www.ncbi.nlm.nih.gov/omim/?term=603675 http://www.informatics.jax.org/searchtool/Search.do?query=RPS16&submit=Quick%0D%3246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS16 rs564577 0.653954 0 0 1 0 0 intronic intronic intronic RPS16 RPS16 ENSG00000105193 Na Na Na Na Na Na Het;A>C 68;6|3 Het;A>C 40;2|2 Hom;A>C 146;0|5 N N - 19 39936502 39936502 G A snp UTR5 -29G>A SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs1932 0.636581 0.5989 0.5823 1 0 0 UTR5 UTR5 UTR5 SUPT5H(NM_001130825:c.-29G>A,NM_001111020:c.-29G>A,NM_003169:c.-29G>A) SUPT5H(uc010xvb.1:c.-29G>A,uc002olo.4:c.-29G>A,uc002olq.4:c.-29G>A,uc002olr.4:c.-29G>A) ENSG00000196235(ENST00000594990:c.-29G>A,ENST00000599117:c.-29G>A,ENST00000402194:c.-29G>A,ENST00000432763:c.-29G>A,ENST00000359191:c.-29G>A,ENST00000598725:c.-29G>A) Na Na Na Na Na Na Het;G>A 979;56|44 Het;G>A 747;50|37 Hom;G>A 2948;0|105 N N - 19 39936693 39936693 C T snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs2116932 0.636581 0 0 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;C>T 399;16|15 Het;C>T 253;13|11 Hom;C>T 838;0|27 N N - 19 39944082 39944082 C T snp synonymous SNV C162T Y54Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs1130180 0.623003 0.5910 0.5976 1 0 0 exonic exonic exonic SUPT5H SUPT5H ENSG00000196235 synonymous SNV synonymous SNV unknown SUPT5H:NM_001111020:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130824:exon3:c.C162T:p.Y54Y,SUPT5H:NM_003169:exon2:c.C162T:p.Y54Y,SUPT5H:NM_001130825:exon3:c.C162T:p.Y54Y, SUPT5H:uc002olp.4:exon3:c.C162T:p.Y54Y,SUPT5H:uc010xvb.1:exon3:c.C162T:p.Y54Y,SUPT5H:uc002oln.4:exon3:c.C162T:p.Y54Y,SUPT5H:uc002olo.4:exon3:c.C162T:p.Y54Y,SUPT5H:uc002olr.4:exon2:c.C162T:p.Y54Y,SUPT5H:uc002olq.4:exon3:c.C162T:p.Y54Y, UNKNOWN Het;C>T 2053;67|93 Het;C>T 1418;55|65 Hom;C>T 3353;0|127 N N - 19 39948779 39948779 G A snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs11881477 0.521965 0 0 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;G>A 45;2|3 Ref Hom;G>A 99;0|4 N N - 19 39949764 39949764 C T snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs1529733 0.495407 0.4293 0.4289 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;C>T 776;42|37 Het;C>T 345;31|18 Hom;C>T 1278;0|45 N N - 19 39957030 39957030 C T snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs4802030 0.493011 0 0 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;C>T 345;13|14 Het;C>T 501;14|17 Hom;C>T 620;0|19 N N - 19 39963318 39963318 T A snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs2304219 0.631789 0 0 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;T>A 211;6|7 Het;T>A 248;3|8 Hom;T>A 246;0|7 N N - 19 39963828 39963828 T A snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs45568533 0.493011 0.4275 0.4245 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;T>A 3477;134|147 Het;T>A 3286;99|137 Hom;T>A 5273;2|192 N N - 19 39964247 39964247 G A snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs4803244 0.495208 0 0 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;G>A 418;16|13 Het;G>A 118;13|6 Hom;G>A 515;0|16 N N - 19 39964315 39964315 C T snp intronic SUPT5H Supt5 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit chr19:39926796-39967310 RNA Pol II CTD phosphorylation and interaction with CE GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006354;DNA-templated transcription, elongation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0007049;cell cycle;NAS|GO:0010033;response to organic substance;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0032784;regulation of DNA-templated transcription, elongation;IEA|GO:0032785;negative regulation of DNA-templated transcription, elongation;IDA|GO:0032786;positive regulation of DNA-templated transcription, elongation;IDA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050434;positive regulation of viral transcription;TAS|GO:1900364;negative regulation of mRNA polyadenylation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032044;DSIF complex;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/SUPT5H https://www.ncbi.nlm.nih.gov/omim/?term=602102 http://www.informatics.jax.org/searchtool/Search.do?query=SUPT5H&submit=Quick%0D%16299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUPT5H rs10420073 0.495607 0 0 1 0 0 intronic intronic intronic SUPT5H SUPT5H ENSG00000196235 Na Na Na Na Na Na Het;C>T 135;4|5 Het;C>T 39;2|2 Hom;C>T 87;0|3 N N - 19 39971622 39971622 C G snp intronic TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs2304221 0.655152 0.6474 0.5987 1 0 0 intronic intronic intronic TIMM50 TIMM50 ENSG00000105197 Na Na Na Na Na Na Het;C>G 548;27|22 Het;C>G 365;21|18 Hom;C>G 1095;0|42 N N - 19 39972766 39972766 G A snp intronic TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs62120691 0.492812 0 0 1 0 0 intronic intronic intronic TIMM50 TIMM50 ENSG00000105197 Na Na Na Na Na Na Het;G>A 520;11|20 Het;G>A 401;8|16 Hom;G>A 951;0|33 N N - 19 39976464 39976464 C G snp UTR5 -465C>G TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs4803245 0 0.6005 0.5737 1 0 0 intronic UTR5 intronic TIMM50 TIMM50(uc002olv.1:c.-465C>G) ENSG00000105197 Na Na Na Na Na Na Het;C>G 1821;72|73 Het;C>G 1176;62|50 Hom;C>G 3103;1|112 N N - 19 39976684 39976684 T C snp UTR5 -245T>C TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs4803246 0.640575 0 0 1 0 0 intronic UTR5 intronic TIMM50 TIMM50(uc002olv.1:c.-245T>C) ENSG00000105197 Na Na Na Na Na Na Het;T>C 252;4|8 Ref Hom;T>C 96;0|3 N N - 19 39976734 39976734 G A snp UTR5 -195G>A TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs4803247 0.639377 0 0 1 0 0 intronic UTR5 intronic TIMM50 TIMM50(uc002olv.1:c.-195G>A) ENSG00000105197 Na Na Na Na Na Na Het;G>A 378;6|14 Het;G>A 76;10|4 Hom;G>A 173;0|6 N N - 19 39976969 39976969 T C snp intronic TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs1865094 0.40615 0.3711 0.4155 1 0 0 intronic intronic intronic TIMM50 TIMM50 ENSG00000105197 Na Na Na Na Na Na Het;T>C 1211;51|49 Het;T>C 1029;40|39 Hom;T>C 2648;0|94 N N - 19 39978610 39978614 GTGTA G indel intronic TIMM50 Timm50 ENSG00000105197 translocase of inner mitochondrial membrane 50 chr19:39971052-39984422 This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Mice homozygous for a null allele exhibit increased pressure overload-induced cardiac hypertrophy with impaired systolic function, cardiac fibrosis, increased oxidative stress and apoptosis. Mitochondrial protein import GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006470;protein dephosphorylation;IDA|GO:0006810;transport;IEA|GO:0007006;mitochondrial membrane organization;IMP|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005744;mitochondrial inner membrane presequence translocase complex;IPI|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005134;interleukin-2 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TIMM50 https://www.uniprot.org/uniprot/Q3ZCQ8 https://hpo.jax.org/app/browse/search?q=TIMM50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607381 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM50&submit=Quick%0D%3247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM50 rs10581377 0.635383 0 0 1 0 0 intronic intronic intronic TIMM50 TIMM50 ENSG00000105197 Na Na Na Na Na Na Het;-TGTA 675;6|18 Het;-TGTA 554;13|15 Hom;-TGTA 593;0|14 N N - 19 39994711 39994711 T C snp nonsynonymous SNV T653C L218P aliphatic,hydrophobic,neutral hydrophobic,neutral DLL3 Dll3 ENSG00000090932 delta like canonical Notch ligand 3 chr19:39989535-39999121 This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Bone Mineral Density; Axial skeletal defects Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects. GO:0001501;skeletal system development;IMP|GO:0001756;somitogenesis;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007386;compartment pattern specification;IEA|GO:0009888;tissue development;IEA|GO:0030154;cell differentiation;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0050768;negative regulation of neurogenesis;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005112;Notch binding;NAS|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DLL3 https://www.uniprot.org/uniprot/Q9NYJ7 https://hpo.jax.org/app/browse/search?q=DLL3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602768 http://www.informatics.jax.org/searchtool/Search.do?query=DLL3&submit=Quick%0D%2125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLL3 rs1110627 0.629992 0.5901 0.5686 0.15 2 13 exonic exonic exonic DLL3 DLL3 ENSG00000090932 nonsynonymous SNV nonsynonymous SNV unknown DLL3:NM_016941:exon5:c.T653C:p.L218P,DLL3:NM_203486:exon5:c.T653C:p.L218P, DLL3:uc002olw.2:exon5:c.T653C:p.L218P,DLL3:uc010egq.3:exon5:c.T653C:p.L218P,DLL3:uc002olx.2:exon5:c.T653C:p.L218P, UNKNOWN Het;T>C 1352;67|58 Het;T>C 871;56|41 Hom;T>C 2150;0|81 N N - 19 40030704 40030704 C T snp nonsynonymous SNV G16A A6T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral EID2 Eid2 ENSG00000176396 EP300 interacting inhibitor of differentiation 2 chr19:40028890-40030870 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007181;transforming growth factor beta receptor complex assembly;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042127;regulation of cell proliferation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005622;intracellular;IC|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EID2 https://www.ncbi.nlm.nih.gov/omim/?term=609773 http://www.informatics.jax.org/searchtool/Search.do?query=EID2&submit=Quick%0D%13850ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EID2 rs7252027 0.198682 0.1658 0.2465 0.33 4 12 exonic exonic exonic EID2 EID2 ENSG00000176396 nonsynonymous SNV nonsynonymous SNV unknown EID2:NM_153232:exon1:c.G16A:p.A6T, EID2:uc002oma.3:exon1:c.G16A:p.A6T, UNKNOWN Het;C>T 1007;44|51 Het;C>T 1157;40|53 Hom;C>T 2265;0|85 N N - 19 40074703 40074703 C T snp ncRNA_exonic AC011500.1 rs1836012 0.182508 0 0 1 0 0 intergenic intergenic ncRNA_exonic EID2(dist=43865),LGALS13(dist=18466) EID2(dist=43865),LGALS13(dist=18466) ENSG00000269188 Na Na Na Na Na Na Het;C>T 187;10|10 Het;C>T 83;5|5 Hom;C>T 255;0|8 N N - 19 40074810 40074810 G A snp ncRNA_exonic AC011500.1 rs1836013 0.172524 0 0 1 0 0 intergenic intergenic ncRNA_exonic EID2(dist=43972),LGALS13(dist=18359) EID2(dist=43972),LGALS13(dist=18359) ENSG00000269188 Na Na Na Na Na Na Het;G>A 39;15|3 Het;G>A 112;4|5 Hom;G>A 209;0|9 N N - 19 40174119 40174119 C T snp ncRNA_intronic LGALS17A rs1126159 0.421526 0.4295 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LGALS17A LGALS17A ENSG00000226025 Na Na Na Na Na Na Het;C>T 476;40|22 Het;C>T 629;33|26 Hom;C>T 1429;0|49 N N - 19 40174236 40174236 G A snp nonsynonymous SNV G320A R107K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LGALS17A rs7258833 0.638778 0.7113 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic LGALS17A LGALS17A ENSG00000226025 Na nonsynonymous SNV Na Na LGALS17A:uc021uuo.2:exon3:c.G320A:p.R107K, Na Het;G>A 1910;101|90 Het;G>A 1823;119|89 Hom;G>A 4442;0|161 N N - 19 40175829 40175829 A G snp ncRNA_exonic LGALS17A rs7251304 0.431909 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_exonic LGALS17A LGALS17A(uc021uuo.2:c.*1550A>G) ENSG00000226025 Na Na Na Na Na Na Het;A>G 578;7|15 Het;A>G 220;6|6 Hom;A>G 917;0|21 N N - 19 40175837 40175837 G A snp ncRNA_exonic LGALS17A rs7251631 0.428115 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_exonic LGALS17A LGALS17A(uc021uuo.2:c.*1558G>A) ENSG00000226025 Na Na Na Na Na Na Het;G>A 668;9|18 Het;G>A 258;13|9 Hom;G>A 987;0|23 N N - 19 40176917 40176917 T C snp ncRNA_exonic LGALS17A rs16973566 0.431909 0 0 1 0 0 ncRNA_exonic downstream ncRNA_exonic LGALS17A LGALS17A ENSG00000226025 Na Na Na Na Na Na Het;T>C 1213;46|59 Het;T>C 1225;57|54 Hom;T>C 3149;0|117 N N - 19 40177041 40177041 G A snp downstream LGALS17A rs16973568 0.428115 0 0 1 0 0 downstream downstream ncRNA_intronic LGALS17A LGALS17A ENSG00000269460 Na Na Na Na Na Na Het;G>A 284;10|10 Het;G>A 418;8|17 Hom;G>A 574;0|19 N N - 19 40184328 40184328 A G snp ncRNA_intronic AC005515.1 rs8102588 0.63758 0 0 1 0 0 intergenic intergenic ncRNA_intronic LGALS17A(dist=7315),LGALS14(dist=10618) LGALS17A(dist=8270),LGALS14(dist=10618) ENSG00000269460 Na Na Na Na Na Na Het;A>G 328;12|18 Het;A>G 318;24|16 Hom;A>G 1162;0|42 N N - 19 40197924 40197924 T C snp nonsynonymous SNV T199C C67R polar,hydrophobic,neutral polar,hydrophilic,charged(+) LGALS14 ENSG00000006659 galectin 14 chr19:40194946-40200084 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction GO:0006915;apoptotic process;IEA|GO:0070234;positive regulation of T cell apoptotic process;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGALS14 https://www.uniprot.org/uniprot/Q8TCE9 https://www.ncbi.nlm.nih.gov/omim/?term=607260 http://www.informatics.jax.org/searchtool/Search.do?query=LGALS14&submit=Quick%0D%414ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS14 rs4830 0.637181 0.7118 0.6421 0.08 1 12 exonic exonic exonic LGALS14 LGALS14 ENSG00000006659 nonsynonymous SNV nonsynonymous SNV unknown LGALS14:NM_020129:exon3:c.T199C:p.C67R,LGALS14:NM_203471:exon4:c.T286C:p.C96R, LGALS14:uc002omg.3:exon3:c.T199C:p.C67R,LGALS14:uc002omf.3:exon4:c.T286C:p.C96R, UNKNOWN Het;T>C 1719;98|81 Het;T>C 1438;84|72 Hom;T>C 3638;0|135 N N - 19 40199914 40199914 C G snp nonsynonymous SNV C381G F127L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LGALS14 ENSG00000006659 galectin 14 chr19:40194946-40200084 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction GO:0006915;apoptotic process;IEA|GO:0070234;positive regulation of T cell apoptotic process;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGALS14 https://www.uniprot.org/uniprot/Q8TCE9 https://www.ncbi.nlm.nih.gov/omim/?term=607260 http://www.informatics.jax.org/searchtool/Search.do?query=LGALS14&submit=Quick%0D%414ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS14 rs10755 0.633786 0.7103 0.6416 0.08 1 12 exonic exonic exonic LGALS14 LGALS14 ENSG00000006659 nonsynonymous SNV nonsynonymous SNV unknown LGALS14:NM_020129:exon4:c.C381G:p.F127L,LGALS14:NM_203471:exon5:c.C468G:p.F156L, LGALS14:uc002omg.3:exon4:c.C381G:p.F127L,LGALS14:uc002omf.3:exon5:c.C468G:p.F156L, UNKNOWN Het;C>G 344;17|17 Het;C>G 414;9|19 Hom;C>G 1133;0|45 N N - 19 40219449 40219449 T C snp intergenic LGALS14 ENSG00000006659 galectin 14 chr19:40194946-40200084 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction GO:0006915;apoptotic process;IEA|GO:0070234;positive regulation of T cell apoptotic process;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGALS14 https://www.uniprot.org/uniprot/Q8TCE9 https://www.ncbi.nlm.nih.gov/omim/?term=607260 http://www.informatics.jax.org/searchtool/Search.do?query=LGALS14&submit=Quick%0D%414ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGALS14 rs412884 0.61861 0 0 1 0 0 intergenic intergenic intergenic LGALS14(dist=19361),CLC(dist=2444) LGALS14(dist=19361),CLC(dist=2444) ENSG00000006659(dist=19365),ENSG00000105205(dist=2441) Na Na Na Na Na Na Het;T>C 37;6|3 Het;T>C 169;1|6 Hom;T>C 99;0|3 N N - 19 40224833 40224833 A T snp intronic CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs375867 0.609026 0 0 1 0 0 intronic intronic intronic CLC CLC ENSG00000105205 Na Na Na Na Na Na Het;A>T 299;6|10 Ref Hom;A>T 192;0|7 N N - 19 40224869 40224869 T A snp intronic CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs391646 0.609225 0 0 1 0 0 intronic intronic intronic CLC CLC ENSG00000105205 Na Na Na Na Na Na Het;T>A 701;9|17 Ref Hom;T>A 782;0|16 N N - 19 40224887 40224887 T C snp intronic CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs391660 0.609026 0.6988 0.6310 1 0 0 intronic intronic intronic CLC CLC ENSG00000105205 Na Na Na Na Na Na Het;T>C 863;10|22 Het;T>C 137;15|4 Hom;T>C 1130;0|24 N N - 19 40224901 40224901 G A snp intronic CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs453827 0.609225 0.6986 0.6303 1 0 0 intronic intronic intronic CLC CLC ENSG00000105205 Na Na Na Na Na Na Het;G>A 878;13|23 Het;G>A 206;21|9 Hom;G>A 1192;0|28 N N - 19 40224986 40224986 A G snp synonymous SNV T240C N80N polar,hydrophilic,neutral polar,hydrophilic,neutral CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs384138 0.609225 0.6993 0.6303 1 0 0 exonic exonic exonic CLC CLC ENSG00000105205 synonymous SNV synonymous SNV unknown CLC:NM_001828:exon3:c.T240C:p.N80N, CLC:uc002omh.3:exon3:c.T240C:p.N80N, UNKNOWN Het;A>G 1554;38|57 Het;A>G 562;66|32 Hom;A>G 2707;0|98 N N - 19 40225168 40225168 T A snp intronic CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs399641 0.609026 0.6989 0.6314 1 0 0 intronic intronic intronic CLC CLC ENSG00000105205 Na Na Na Na Na Na Het;T>A 638;41|26 Het;T>A 577;57|32 Hom;T>A 1756;0|62 N N - 19 40225646 40225646 G A snp nonsynonymous SNV C83T A28V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs17608 0.613618 0.7022 0.6311 0.09 1 11 exonic exonic exonic CLC CLC ENSG00000105205 nonsynonymous SNV nonsynonymous SNV unknown CLC:NM_001828:exon2:c.C83T:p.A28V, CLC:uc002omh.3:exon2:c.C83T:p.A28V, UNKNOWN Het;G>A 1150;60|54 Het;G>A 1009;69|50 Hom;G>A 2763;6|110 N N - 19 40225857 40225857 G T snp intronic CLC ENSG00000105205 Charcot-Leyden crystal galectin chr19:40221890-40228668 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] allergic rhinitis Mice homozygous for a knock-out allele exhibit postnatal lethality associated with a failure to suckle and decreased facial and spinal motor neurons. GO:0002667;regulation of T cell anergy;IMP|GO:0002724;regulation of T cell cytokine production;IMP|GO:0007275;multicellular organism development;TAS|GO:0046006;regulation of activated T cell proliferation;IMP|GO:0070231;T cell apoptotic process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/CLC https://www.uniprot.org/uniprot/Q05315 https://www.ncbi.nlm.nih.gov/omim/?term=153310 http://www.informatics.jax.org/searchtool/Search.do?query=CLC&submit=Quick%0D%3251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLC rs372081 0.609026 0 0 1 0 0 intronic intronic intronic CLC CLC ENSG00000105205 Na Na Na Na Na Na Het;G>T 164;5|6 Het;G>T 123;11|5 Hom;G>T 348;0|11 N N - 19 40318086 40318086 A G snp intronic DYRK1B Dyrk1b ENSG00000281320 dual specificity tyrosine phosphorylation regulated kinase 1B chr19:40315990-40324841 This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] ABDOMINAL OBESITY-METABOLIC SYNDROME 3 GO:0006468;protein phosphorylation;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060612;adipose tissue development;IMP GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYRK1B https://www.uniprot.org/uniprot/Q9Y463 https://hpo.jax.org/app/browse/search?q=DYRK1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604556 http://www.informatics.jax.org/searchtool/Search.do?query=DYRK1B&submit=Quick%0D%22294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYRK1B rs12977762 0.503994 0.4574 0.5037 1 0 0 intronic intronic intronic DYRK1B DYRK1B ENSG00000105204 Na Na Na Na Na Na Het;A>G 3589;92|95 Het;A>G 3349;95|88 Hom;A>G 7398;0|167 N N - 19 40318087 40318087 G A snp intronic DYRK1B Dyrk1b ENSG00000281320 dual specificity tyrosine phosphorylation regulated kinase 1B chr19:40315990-40324841 This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] ABDOMINAL OBESITY-METABOLIC SYNDROME 3 GO:0006468;protein phosphorylation;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060612;adipose tissue development;IMP GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYRK1B https://www.uniprot.org/uniprot/Q9Y463 https://hpo.jax.org/app/browse/search?q=DYRK1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604556 http://www.informatics.jax.org/searchtool/Search.do?query=DYRK1B&submit=Quick%0D%22294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYRK1B rs56110449 0.229233 0.0004 0.2865 1 0 0 intronic intronic intronic DYRK1B DYRK1B ENSG00000105204 Na Na Na Na Na Na Het;G>A 2187;94|93 Het;G>A 3349;95|88 Hom;G>A 7398;0|165 N N - 19 40320339 40320339 A T snp intronic DYRK1B Dyrk1b ENSG00000281320 dual specificity tyrosine phosphorylation regulated kinase 1B chr19:40315990-40324841 This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] ABDOMINAL OBESITY-METABOLIC SYNDROME 3 GO:0006468;protein phosphorylation;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060612;adipose tissue development;IMP GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYRK1B https://www.uniprot.org/uniprot/Q9Y463 https://hpo.jax.org/app/browse/search?q=DYRK1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604556 http://www.informatics.jax.org/searchtool/Search.do?query=DYRK1B&submit=Quick%0D%22294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYRK1B rs12980289 0.502196 0 0.6168 1 0 0 intronic intronic intronic DYRK1B DYRK1B ENSG00000105204 Na Na Na Na Na Na Het;A>T 576;35|24 Het;A>T 536;20|27 Hom;A>T 1412;2|48 N N - 19 40321524 40321524 C A snp intronic DYRK1B Dyrk1b ENSG00000281320 dual specificity tyrosine phosphorylation regulated kinase 1B chr19:40315990-40324841 This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] ABDOMINAL OBESITY-METABOLIC SYNDROME 3 GO:0006468;protein phosphorylation;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060612;adipose tissue development;IMP GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYRK1B https://www.uniprot.org/uniprot/Q9Y463 https://hpo.jax.org/app/browse/search?q=DYRK1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604556 http://www.informatics.jax.org/searchtool/Search.do?query=DYRK1B&submit=Quick%0D%22294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYRK1B rs7247063 0.270966 0 0 1 0 0 intronic intronic intronic DYRK1B DYRK1B ENSG00000105204 Na Na Na Na Na Na Het;C>A 267;17|10 Het;C>A 285;6|13 Hom;C>A 211;0|7 N N - 19 40325016 40325016 T C snp upstream;downstream ENSG00000105204 rs2072290 0.492412 0 0 1 0 0 upstream;downstream upstream;downstream upstream;downstream DYRK1B;FBL DYRK1B;FBL ENSG00000105204;ENSG00000105202 Na Na Na Na Na Na Het;T>C 66;8|3 Het;T>C 51;1|2 Hom;T>C 228;0|6 N N - 19 40337080 40337080 C T snp upstream FBL Fbl ENSG00000280548 fibrillarin chr19:40325098-40337054 This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygous null mice display embryonic lethality with morula arrest. Heterozygous null mice display partial embryonic lethality. Major pathway of rRNA processing in the nucleolus and cytosol GO:0000494;box C/D snoRNA 3'-end processing;IBA|GO:0001649;osteoblast differentiation;IDA|GO:0006364;rRNA processing;IEA|GO:0008033;tRNA processing;IEA|GO:0031167;rRNA methylation;IBA|GO:0032259;methylation;IEA|GO:0048254;snoRNA localization;IMP|GO:1990258;histone glutamine methylation;IDA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0015030;Cajal body;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031428;box C/D snoRNP complex;NAS|GO:0032040;small-subunit processome;IBA|GO:0070062;extracellular exosome;IDA GO:0001094;TFIID-class transcription factor binding;IPI|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008649;rRNA methyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0051117;ATPase binding;IPI|GO:1990259;histone-glutamine methyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBL https://www.uniprot.org/uniprot/P22087 https://www.ncbi.nlm.nih.gov/omim/?term=134795 http://www.informatics.jax.org/searchtool/Search.do?query=FBL&submit=Quick%0D%22216ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBL rs11881344 0.332668 0 0 1 0 0 upstream upstream upstream FBL FBL ENSG00000105202 Na Na Na Na Na Na Het;C>T 97;9|5 Het;C>T 76;6|5 Hom;C>T 132;0|5 N N - 19 406739 406739 A G snp UTR3 *357T>C C2CD4C C2cd4c ENSG00000183186 C2 calcium dependent domain containing 4C chr19:405438-409139 Mice homozygous for a knock-out allele exhibit decreased body weight but normal glucose homeostasis and pancreas development. GO:0005886;plasma membrane;IBA GO:0005509;calcium ion binding;IBA|GO:0005544;calcium-dependent phospholipid binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/C2CD4C https://www.ncbi.nlm.nih.gov/omim/?term=610336 http://www.informatics.jax.org/searchtool/Search.do?query=C2CD4C&submit=Quick%0D%14940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2CD4C rs12974729 0.580871 0 0 1 0 0 UTR3 UTR3 UTR3 C2CD4C(NM_001136263:c.*357T>C) C2CD4C(uc002loo.3:c.*357T>C) ENSG00000183186(ENST00000332235:c.*357T>C) Na Na Na Na Na Na Het;A>G 114;2|4 Ref Hom;A>G 132;0|4 N N - 19 407900 407900 A G snp synonymous SNV T462C A154A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C2CD4C C2cd4c ENSG00000183186 C2 calcium dependent domain containing 4C chr19:405438-409139 Mice homozygous for a knock-out allele exhibit decreased body weight but normal glucose homeostasis and pancreas development. GO:0005886;plasma membrane;IBA GO:0005509;calcium ion binding;IBA|GO:0005544;calcium-dependent phospholipid binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/C2CD4C https://www.ncbi.nlm.nih.gov/omim/?term=610336 http://www.informatics.jax.org/searchtool/Search.do?query=C2CD4C&submit=Quick%0D%14940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2CD4C rs10411998 0.742812 0 0.6565 1 0 0 exonic exonic exonic C2CD4C C2CD4C ENSG00000183186 synonymous SNV synonymous SNV unknown C2CD4C:NM_001136263:exon2:c.T462C:p.A154A, C2CD4C:uc002loo.3:exon2:c.T462C:p.A154A,C2CD4C:uc021ulv.1:exon1:c.T462C:p.A154A, UNKNOWN Het;A>G 1612;89|71 Het;A>G 1363;86|67 Hom;A>G 3601;3|137 N N - 19 40872964 40872964 G A snp UTR3 *151G>A PLD3 Pld3 ENSG00000105223 phospholipase D family member 3 chr19:40854363-40886346 This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014] breast cancer Role of phospholipids in phagocytosis GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004630;phospholipase D activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0070290;N-acylphosphatidylethanolamine-specific phospholipase D activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLD3 https://www.uniprot.org/uniprot/Q8IV08 https://hpo.jax.org/app/browse/search?q=PLD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615698 http://www.informatics.jax.org/searchtool/Search.do?query=PLD3&submit=Quick%0D%3255ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLD3 rs7258698 0.129393 0 0 1 0 0 intronic UTR3 intronic PLD3 PLD3(uc002ono.3:c.*151G>A) ENSG00000105223 Na Na Na Na Na Na Het;G>A 548;15|19 Het;G>A 58;6|3 Hom;G>A 334;0|10 N N - 19 40901604 40901604 A G snp synonymous SNV T2655C P885P hydrophobic,neutral hydrophobic,neutral PRX Prx ENSG00000105227 periaxin chr19:40899675-40919273 This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Charcot-Marie-Tooth disease Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. GO:0008366;axon ensheathment;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRX https://www.uniprot.org/uniprot/Q9BXM0 https://hpo.jax.org/app/browse/search?q=PRX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605725 http://www.informatics.jax.org/searchtool/Search.do?query=PRX&submit=Quick%0D%3256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRX rs268672 0.531949 0.6091 0.5070 1 0 0 exonic exonic exonic PRX PRX ENSG00000105227 synonymous SNV synonymous SNV unknown PRX:NM_181882:exon7:c.T2655C:p.P885P, PRX:uc002onq.3:exon3:c.T2238C:p.P746P,PRX:uc002onr.3:exon7:c.T2655C:p.P885P, UNKNOWN Het;A>G 3199;102|87 Het;A>G 2598;92|70 Hom;A>G 6927;0|154 N N - 19 40901614 40901614 A G snp nonsynonymous SNV T2228C V743A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PRX Prx ENSG00000105227 periaxin chr19:40899675-40919273 This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Charcot-Marie-Tooth disease Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. GO:0008366;axon ensheathment;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRX https://www.uniprot.org/uniprot/Q9BXM0 https://hpo.jax.org/app/browse/search?q=PRX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605725 http://www.informatics.jax.org/searchtool/Search.do?query=PRX&submit=Quick%0D%3256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRX rs268671 0.531949 0.6097 0.5069 0.08 1 13 exonic exonic exonic PRX PRX ENSG00000105227 nonsynonymous SNV nonsynonymous SNV unknown PRX:NM_181882:exon7:c.T2645C:p.V882A, PRX:uc002onq.3:exon3:c.T2228C:p.V743A,PRX:uc002onr.3:exon7:c.T2645C:p.V882A, UNKNOWN Het;A>G 3295;104|88 Het;A>G 2662;88|74 Hom;A>G 7317;0|170 N N - 19 40909494 40909494 T TC indel intronic PRX Prx ENSG00000105227 periaxin chr19:40899675-40919273 This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Charcot-Marie-Tooth disease Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. GO:0008366;axon ensheathment;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRX https://www.uniprot.org/uniprot/Q9BXM0 https://hpo.jax.org/app/browse/search?q=PRX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605725 http://www.informatics.jax.org/searchtool/Search.do?query=PRX&submit=Quick%0D%3256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRX rs141109067 0.0613019 0 0 1 0 0 intronic intronic intronic PRX PRX ENSG00000105227 Na Na Na Na Na Na Het;+C 90;1|4 Ref Hom;+C 231;0|8 N N - 19 40913980 40913980 C T snp intronic PRX Prx ENSG00000105227 periaxin chr19:40899675-40919273 This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Charcot-Marie-Tooth disease Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. GO:0008366;axon ensheathment;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRX https://www.uniprot.org/uniprot/Q9BXM0 https://hpo.jax.org/app/browse/search?q=PRX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605725 http://www.informatics.jax.org/searchtool/Search.do?query=PRX&submit=Quick%0D%3256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRX rs3814288 0.0752796 0 0 1 0 0 intronic intronic intronic PRX PRX ENSG00000105227 Na Na Na Na Na Na Het;C>T 133;12|7 Het;C>T 72;3|3 Hom;C>T 296;0|10 N N - 19 40914040 40914040 G A snp intronic PRX Prx ENSG00000105227 periaxin chr19:40899675-40919273 This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Charcot-Marie-Tooth disease Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. GO:0008366;axon ensheathment;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRX https://www.uniprot.org/uniprot/Q9BXM0 https://hpo.jax.org/app/browse/search?q=PRX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605725 http://www.informatics.jax.org/searchtool/Search.do?query=PRX&submit=Quick%0D%3256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRX rs3814287 0.0746805 0 0 1 0 0 intronic intronic intronic PRX PRX ENSG00000105227 Na Na Na Na Na Na Het;G>A 376;16|16 Het;G>A 128;11|7 Hom;G>A 622;0|22 N N - 19 41007797 41007799 GTC G indel intronic SPTBN4 Sptbn4 ENSG00000160460 spectrin beta, non-erythrocytic 4 chr19:40972148-41082370 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4 https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606214 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4 rs373614397 0.201677 0.2529 0.2167 1 0 0 intronic intronic intronic SPTBN4 SPTBN4 ENSG00000160460 Na Na Na Na Na Na Het;-TC 920;21|25 Het;-TC 517;7|14 Hom;-TC 1158;0|27 N N - 19 41008049 41008049 A G snp synonymous SNV A912G V304V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SPTBN4 Sptbn4 ENSG00000160460 spectrin beta, non-erythrocytic 4 chr19:40972148-41082370 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4 https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606214 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4 rs814526 0.377596 0.4487 0.3589 1 0 0 exonic exonic exonic SPTBN4 SPTBN4 ENSG00000160460 synonymous SNV synonymous SNV unknown SPTBN4:NM_020971:exon9:c.A912G:p.V304V, SPTBN4:uc002onz.3:exon9:c.A912G:p.V304V,SPTBN4:uc002onx.3:exon9:c.A912G:p.V304V,SPTBN4:uc002ony.3:exon9:c.A912G:p.V304V, UNKNOWN Het;A>G 3199;126|139 Het;A>G 2595;150|118 Hom;A>G 6872;4|249 N N - 19 41010047 41010047 C G snp intronic SPTBN4 Sptbn4 ENSG00000160460 spectrin beta, non-erythrocytic 4 chr19:40972148-41082370 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4 https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606214 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4 rs843779 0.619409 0.6044 0.5344 1 0 0 intronic intronic intronic SPTBN4 SPTBN4 ENSG00000160460 Na Na Na Na Na Na Het;C>G 202;46|14 Ref Hom;C>G 397;0|14 N N - 19 4101062 4101062 G T snp synonymous SNV C660A I220I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MAP2K2 Map2k2 ENSG00000126934 mitogen-activated protein kinase kinase 2 chr19:4090319-4124126 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008] Abnormalities, Multiple|Ectodermal Dysplasia|Heart Defects, Congenital|Mental Retardation|Syndrome; Glioma|Noonan Syndrome|Turner's phenotype, karyotype normal; Abnormalities, Multiple|Heart Defects, Congenital|LEOPARD Syndrome|Noonan Syndrome|Skin Abnormalities; Bone Mineral Density Homozygotes for a targeted null mutation are viable, fertile, and apparently normal. Paradoxical activation of RAF signaling by kinase inactive BRAF GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0010629;negative regulation of gene expression;IGI|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032872;regulation of stress-activated MAPK cascade;TAS|GO:0035897;proteolysis in other organism;TAS|GO:0036289;peptidyl-serine autophosphorylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0070371;ERK1 and ERK2 cascade;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0090170;regulation of Golgi inheritance;TAS|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IMP|GO:2000641;regulation of early endosome to late endosome transport;TAS GO:0005576;extracellular region;NAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005769;early endosome;TAS|GO:0005770;late endosome;TAS|GO:0005778;peroxisomal membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005925;focal adhesion;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030165;PDZ domain binding;IDA|GO:0043539;protein serine/threonine kinase activator activity;IDA|GO:0046872;metal ion binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP2K2 https://www.uniprot.org/uniprot/P36507 https://hpo.jax.org/app/browse/search?q=MAP2K2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601263 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K2&submit=Quick%0D%5993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K2 rs10250 0.433307 0.4179 0.5472 1 0 0 exonic exonic exonic MAP2K2 MAP2K2 ENSG00000126934 synonymous SNV synonymous SNV unknown MAP2K2:NM_030662:exon6:c.C660A:p.I220I, MAP2K2:uc002lzk.3:exon6:c.C660A:p.I220I,MAP2K2:uc002lzj.3:exon3:c.C90A:p.I30I, UNKNOWN Het;G>T 2224;64|88 Het;G>T 1224;43|53 Hom;G>T 3145;0|109 N N - 19 41012190 41012190 C T snp synonymous SNV C1713T D571D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SPTBN4 Sptbn4 ENSG00000160460 spectrin beta, non-erythrocytic 4 chr19:40972148-41082370 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4 https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606214 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4 rs7258094 0.188898 0.2450 0.2104 1 0 0 exonic exonic exonic SPTBN4 SPTBN4 ENSG00000160460 synonymous SNV synonymous SNV unknown SPTBN4:NM_020971:exon13:c.C1713T:p.D571D, SPTBN4:uc002onz.3:exon13:c.C1713T:p.D571D,SPTBN4:uc002onx.3:exon13:c.C1713T:p.D571D,SPTBN4:uc002ony.3:exon13:c.C1713T:p.D571D, UNKNOWN Het;C>T 2253;74|100 Het;C>T 1542;84|75 Hom;C>T 4069;1|157 N N - 19 41025243 41025243 G A snp intronic SPTBN4 Sptbn4 ENSG00000160460 spectrin beta, non-erythrocytic 4 chr19:40972148-41082370 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4 https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606214 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4 rs814538 0.458666 0 0 1 0 0 intronic intronic intronic SPTBN4 SPTBN4 ENSG00000160460 Na Na Na Na Na Na Het;G>A 336;20|14 Het;G>A 343;13|16 Hom;G>A 593;0|20 N N - 19 41073863 41073863 C T snp nonsynonymous SNV C6631T P2211S hydrophobic,neutral polar,hydrophilic,neutral SPTBN4 Sptbn4 ENSG00000160460 spectrin beta, non-erythrocytic 4 chr19:40972148-41082370 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007016;cytoskeletal anchoring at plasma membrane;TAS|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0007605;sensory perception of sound;IEA|GO:0007628;adult walking behavior;IEA|GO:0009566;fertilization;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019226;transmission of nerve impulse;IEA|GO:0021952;central nervous system projection neuron axonogenesis;IEA|GO:0022414;reproductive process;IEA|GO:0030534;adult behavior;IEA|GO:0033135;regulation of peptidyl-serine phosphorylation;IEA|GO:0034613;cellular protein localization;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0051693;actin filament capping;IEA|GO:0061337;cardiac conduction;IEA|GO:0090002;establishment of protein localization to plasma membrane;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005912;adherens junction;ISS|GO:0005938;cell cortex;IEA|GO:0008091;spectrin;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0016605;PML body;IDA|GO:0030424;axon;IEA|GO:0033268;node of Ranvier;IEA|GO:0033270;paranode region of axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043194;axon initial segment;IEA|GO:0043203;axon hillock;IEA|GO:0070062;extracellular exosome;IDA|GO:0070852;cell body fiber;IEA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0030507;spectrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN4 https://hpo.jax.org/app/browse/search?q=SPTBN4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606214 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN4&submit=Quick%0D%10472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN4 rs61733984 0.0555112 0 0.0864 0.08 1 13 exonic exonic exonic SPTBN4 SPTBN4 ENSG00000160460 nonsynonymous SNV nonsynonymous SNV unknown SPTBN4:NM_020971:exon31:c.C6631T:p.P2211S, SPTBN4:uc002onz.3:exon31:c.C6631T:p.P2211S,SPTBN4:uc002ony.3:exon31:c.C6631T:p.P2211S,SPTBN4:uc010egx.3:exon19:c.C2860T:p.P954S, UNKNOWN Het;C>T 486;30|23 Het;C>T 602;13|24 Hom;C>T 1332;0|47 N N - 19 41211056 41211056 T C snp nonsynonymous SNV A398G H133R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ADCK4 Adck4 rs3865452 0.477436 0.4525 0.5085 0.08 1 13 exonic exonic exonic ADCK4 ADCK4 ENSG00000123815 nonsynonymous SNV nonsynonymous SNV unknown ADCK4:NM_024876:exon7:c.A521G:p.H174R,ADCK4:NM_001142555:exon6:c.A398G:p.H133R, ADCK4:uc002ooq.2:exon6:c.A398G:p.H133R,ADCK4:uc002oor.2:exon7:c.A521G:p.H174R, UNKNOWN Het;T>C 1348;87|64 Het;T>C 1394;73|65 Hom;T>C 3580;0|134 N N - 19 41224314 41224314 G A snp intronic ITPKC Itpkc ENSG00000086544 inositol-trisphosphate 3-kinase C chr19:41223008-41246765 This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009] null; Mucocutaneous Lymph Node Syndrome; Tobacco Use Disorder No overt phenotype reported. Thymocyte development was normal in homozygous null mice. Synthesis of IP3 and IP4 in the cytosol GO:0016310;phosphorylation;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008440;inositol-1,4,5-trisphosphate 3-kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITPKC https://www.uniprot.org/uniprot/Q96DU7 https://www.ncbi.nlm.nih.gov/omim/?term=606476 http://www.informatics.jax.org/searchtool/Search.do?query=ITPKC&submit=Quick%0D%1927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPKC rs2561530 0.648962 0 0 1 0 0 intronic intronic intronic ITPKC ITPKC ENSG00000086544 Na Na Na Na Na Na Het;G>A 191;2|6 Het;G>A 124;4|6 Hom;G>A 449;0|14 N N - 19 41235393 41235393 A G snp intronic ITPKC Itpkc ENSG00000086544 inositol-trisphosphate 3-kinase C chr19:41223008-41246765 This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009] null; Mucocutaneous Lymph Node Syndrome; Tobacco Use Disorder No overt phenotype reported. Thymocyte development was normal in homozygous null mice. Synthesis of IP3 and IP4 in the cytosol GO:0016310;phosphorylation;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008440;inositol-1,4,5-trisphosphate 3-kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITPKC https://www.uniprot.org/uniprot/Q96DU7 https://www.ncbi.nlm.nih.gov/omim/?term=606476 http://www.informatics.jax.org/searchtool/Search.do?query=ITPKC&submit=Quick%0D%1927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPKC rs1965715 0.749002 0 0 1 0 0 intronic intronic intronic ITPKC ITPKC ENSG00000086544 Na Na Na Na Na Na Het;A>G 137;7|6 Het;A>G 352;14|13 Hom;A>G 444;0|14 N N - 19 41251180 41251180 T G snp intronic C19orf54 BC024978 ENSG00000188493 chromosome 19 open reading frame 54 chr19:41246761-41257458 http://www.genecards.org/index.php?path=/Search/keyword/C19orf54 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf54&submit=Quick%0D%16043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf54 rs2369302 0.589257 0 0 1 0 0 intronic intronic intronic C19orf54 C19orf54 ENSG00000188493 Na Na Na Na Na Na Het;T>G 822;32|33 Het;T>G 520;12|23 Hom;T>G 1237;0|40 N N - 19 41251285 41251285 T A snp intronic C19orf54 BC024978 ENSG00000188493 chromosome 19 open reading frame 54 chr19:41246761-41257458 http://www.genecards.org/index.php?path=/Search/keyword/C19orf54 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf54&submit=Quick%0D%16043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf54 rs8111960 0.490415 0 0 1 0 0 intronic intronic intronic C19orf54 C19orf54 ENSG00000188493 Na Na Na Na Na Na Het;T>A 69;4|4 Het;T>A 78;2|4 Hom;T>A 121;0|4 N N - 19 41255500 41255500 C G snp nonsynonymous SNV G209C R70P polar,hydrophilic,charged(+) hydrophobic,neutral C19orf54 BC024978 ENSG00000188493 chromosome 19 open reading frame 54 chr19:41246761-41257458 http://www.genecards.org/index.php?path=/Search/keyword/C19orf54 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf54&submit=Quick%0D%16043ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf54 rs2254343 0.756789 0 0.7332 0.25 3 12 exonic exonic exonic C19orf54 C19orf54 ENSG00000188493 nonsynonymous SNV nonsynonymous SNV unknown C19orf54:NM_198476:exon1:c.G209C:p.R70P, C19orf54:uc002oou.1:exon1:c.G209C:p.R70P, UNKNOWN Het;C>G 1084;69|50 Het;C>G 450;58|24 Hom;C>G 2750;2|105 N N - 19 41257176 41257176 G C snp UTR5 -138G>C SNRPA Snrpa ENSG00000077312 small nuclear ribonucleoprotein polypeptide A chr19:41256542-41271294 The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010] mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:1900363;regulation of mRNA polyadenylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IDA|GO:0005685;U1 snRNP;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030619;U1 snRNA binding;IBA|GO:0035614;snRNA stem-loop binding;IBA|GO:0042802;identical protein binding;IPI|GO:1990446;U1 snRNP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNRPA https://www.uniprot.org/uniprot/P09012 https://www.ncbi.nlm.nih.gov/omim/?term=182285 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPA&submit=Quick%0D%1619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPA rs1457141 0.876797 0 0 1 0 0 UTR5 UTR5 UTR5 SNRPA(NM_004596:c.-138G>C) SNRPA(uc002ooz.3:c.-138G>C) ENSG00000077312(ENST00000243563:c.-138G>C,ENST00000601393:c.-138G>C) Na Na Na Na Na Na Het;G>C 167;1|5 Het;G>C 49;1|2 Hom;G>C 143;0|4 N N - 19 41269076 41269076 T C snp intronic SNRPA Snrpa ENSG00000077312 small nuclear ribonucleoprotein polypeptide A chr19:41256542-41271294 The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010] mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:1900363;regulation of mRNA polyadenylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IDA|GO:0005685;U1 snRNP;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030619;U1 snRNA binding;IBA|GO:0035614;snRNA stem-loop binding;IBA|GO:0042802;identical protein binding;IPI|GO:1990446;U1 snRNP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNRPA https://www.uniprot.org/uniprot/P09012 https://www.ncbi.nlm.nih.gov/omim/?term=182285 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPA&submit=Quick%0D%1619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPA rs2305797 0.289736 0 0 1 0 0 intronic intronic intronic SNRPA SNRPA ENSG00000077312 Na Na Na Na Na Na Het;T>C 147;14|7 Het;T>C 245;10|11 Hom;T>C 337;0|12 N N - 19 41269766 41269766 G A snp intronic SNRPA Snrpa ENSG00000077312 small nuclear ribonucleoprotein polypeptide A chr19:41256542-41271294 The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010] mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:1900363;regulation of mRNA polyadenylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IDA|GO:0005685;U1 snRNP;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030619;U1 snRNA binding;IBA|GO:0035614;snRNA stem-loop binding;IBA|GO:0042802;identical protein binding;IPI|GO:1990446;U1 snRNP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNRPA https://www.uniprot.org/uniprot/P09012 https://www.ncbi.nlm.nih.gov/omim/?term=182285 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPA&submit=Quick%0D%1619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPA rs2249835 0.752596 0 0 1 0 0 intronic intronic intronic SNRPA SNRPA ENSG00000077312 Na Na Na Na Na Na Het;G>A 133;6|5 Ref Hom;G>A 134;0|5 N N - 19 41292404 41292404 A G snp ncRNA_intronic MIA-RAB4B ENSG00000268975 MIA-RAB4B readthrough (NMD candidate) chr19:41277553-41292590 This locus represents naturally occurring read-through transcription between the neighboring MIA (melanoma inhibitory activity) and RAB4B (RAB4B, member RAS oncogene family) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Feb 2011] http://www.genecards.org/index.php?path=/Search/keyword/MIA-RAB4B http://www.informatics.jax.org/searchtool/Search.do?query=MIA-RAB4B&submit=Quick%0D%20735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIA-RAB4B rs2604894 0.55611 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic MIA-RAB4B,RAB4B-EGLN2 MIA-RAB4B ENSG00000167578,ENSG00000171570,ENSG00000268975 Na Na Na Na Na Na Het;A>G 74;6|3 Het;A>G 42;3|2 Hom;A>G 143;0|4 N N - 19 41302550 41302551 GC G indel ncRNA_exonic MIA-RAB4B ENSG00000268975 MIA-RAB4B readthrough (NMD candidate) chr19:41277553-41292590 This locus represents naturally occurring read-through transcription between the neighboring MIA (melanoma inhibitory activity) and RAB4B (RAB4B, member RAS oncogene family) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Feb 2011] http://www.genecards.org/index.php?path=/Search/keyword/MIA-RAB4B http://www.informatics.jax.org/searchtool/Search.do?query=MIA-RAB4B&submit=Quick%0D%20735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIA-RAB4B rs34205730 0.29353 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 MIA-RAB4B MIA-RAB4B ENSG00000167578(ENST00000357052:c.*91_*92delinsG,ENST00000378307:c.*212_*213delinsG,ENST00000595728:c.*91_*92delinsG) Na Na Na Na Na Na Het;-C 2404;88|86 Het;-C 1533;62|56 Hom;-C 5121;0|150 N N - 19 41302706 41302706 C T snp ncRNA_exonic MIA-RAB4B ENSG00000268975 MIA-RAB4B readthrough (NMD candidate) chr19:41277553-41292590 This locus represents naturally occurring read-through transcription between the neighboring MIA (melanoma inhibitory activity) and RAB4B (RAB4B, member RAS oncogene family) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Feb 2011] http://www.genecards.org/index.php?path=/Search/keyword/MIA-RAB4B http://www.informatics.jax.org/searchtool/Search.do?query=MIA-RAB4B&submit=Quick%0D%20735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIA-RAB4B rs7937 0.472644 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 MIA-RAB4B MIA-RAB4B ENSG00000167578(ENST00000357052:c.*247C>T,ENST00000378307:c.*368C>T,ENST00000595728:c.*247C>T) Na Na Na Na Na Na Het;C>T 1727;68|72 Het;C>T 1570;64|73 Hom;C>T 4241;2|162 N N - 19 41302949 41302949 G T snp ncRNA_intronic RAB4B-EGLN2 Rab4b ENSG00000171570 RAB4B-EGLN2 readthrough (NMD candidate) chr19:41284147-41314103 This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB4B-EGLN2 http://www.informatics.jax.org/searchtool/Search.do?query=RAB4B-EGLN2&submit=Quick%0D%12966ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB4B-EGLN2 rs2644899 0.745407 0 0 1 0 0 ncRNA_intronic intronic intronic RAB4B-EGLN2 RAB4B-EGLN2 ENSG00000171570 Na Na Na Na Na Na Het;G>T 371;9|12 Het;G>T 92;6|4 Hom;G>T 485;0|15 N N - 19 41303000 41303000 G A snp ncRNA_intronic RAB4B-EGLN2 Rab4b ENSG00000171570 RAB4B-EGLN2 readthrough (NMD candidate) chr19:41284147-41314103 This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB4B-EGLN2 http://www.informatics.jax.org/searchtool/Search.do?query=RAB4B-EGLN2&submit=Quick%0D%12966ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB4B-EGLN2 rs2644900 0.516773 0 0 1 0 0 ncRNA_intronic intronic intronic RAB4B-EGLN2 RAB4B-EGLN2 ENSG00000171570 Na Na Na Na Na Na Het;G>A 170;5|6 Het;G>A 35;2|2 Hom;G>A 127;0|4 N N - 19 41306362 41306362 G A snp ncRNA_exonic RAB4B-EGLN2 Rab4b ENSG00000171570 RAB4B-EGLN2 readthrough (NMD candidate) chr19:41284147-41314103 This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB4B-EGLN2 http://www.informatics.jax.org/searchtool/Search.do?query=RAB4B-EGLN2&submit=Quick%0D%12966ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB4B-EGLN2 rs11547373 0.299121 0 0 1 0 0 ncRNA_exonic UTR5 UTR5;UTR3 RAB4B-EGLN2 EGLN2(uc002opg.4:c.-116G>A,uc002oph.3:c.-116G>A,uc002opi.3:c.-116G>A),RAB4B-EGLN2(uc010ehd.3:c.-116G>A) ENSG00000269858(ENST00000598654:c.-116G>A,ENST00000303961:c.-116G>A,ENST00000593972:c.-116G>A,ENST00000406058:c.-116G>A,ENST00000593726:c.-116G>A,ENST00000594380:c.-116G>A,ENST00000601733:c.-116G>A,ENST00000593397:c.-116G>A,ENST00000593525:c.-116G>A,ENST00000596517:c.-116G>A);ENSG00000171570(ENST00000594136:c.*134G>A) Na Na Na Na Na Na Het;G>A 2369;89|112 Het;G>A 1524;78|77 Hom;G>A 4129;2|162 N N - 19 41313202 41313202 C A snp ncRNA_intronic RAB4B-EGLN2 Rab4b ENSG00000171570 RAB4B-EGLN2 readthrough (NMD candidate) chr19:41284147-41314103 This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB4B-EGLN2 http://www.informatics.jax.org/searchtool/Search.do?query=RAB4B-EGLN2&submit=Quick%0D%12966ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB4B-EGLN2 rs3736329 0.296526 0.2692 0.3462 1 0 0 ncRNA_intronic intronic intronic RAB4B-EGLN2 EGLN2,RAB4B-EGLN2 ENSG00000171570,ENSG00000268797,ENSG00000269858 Na Na Na Na Na Na Het;C>A 2274;143|103 Het;C>A 1838;111|91 Hom;C>A 5183;0|192 N N - 19 41315234 41315234 C G snp UTR3 *891G>C AK097370 rs4802090 0.325479 0 0 1 0 0 downstream UTR3 ncRNA_intronic EGLN2,RAB4B-EGLN2 AK097370(uc002opk.1:c.*891G>C) ENSG00000233622 Na Na Na Na Na Na Het;C>G 1962;96|83 Het;C>G 1393;97|69 Hom;C>G 4314;0|147 N N - 19 41315318 41315318 G C snp UTR3 *807C>G AK097370 rs4802091 0.297724 0 0 1 0 0 downstream UTR3 ncRNA_intronic EGLN2,RAB4B-EGLN2 AK097370(uc002opk.1:c.*807C>G) ENSG00000233622 Na Na Na Na Na Na Het;G>C 2842;181|132 Het;G>C 2479;153|117 Hom;G>C 7080;0|261 N N - 19 41315980 41315980 G A snp ncRNA_exonic CYP2T1P rs4803369 0.298522 0 0 1 0 0 intergenic UTR3 ncRNA_exonic RAB4B-EGLN2(dist=1634),CYP2A6(dist=33463) AK097370(uc002opk.1:c.*145C>T) ENSG00000233622 Na Na Na Na Na Na Het;G>A 1711;46|69 Het;G>A 785;47|37 Hom;G>A 2260;1|81 N N - 19 41316746 41316746 G C snp upstream AK097370 rs11668644 0.767772 0 0 1 0 0 intergenic upstream ncRNA_intronic RAB4B-EGLN2(dist=2400),CYP2A6(dist=32697) AK097370 ENSG00000233622 Na Na Na Na Na Na Het;G>C 3084;110|128 Het;G>C 1839;86|81 Hom;G>C 3788;0|130 N N - 19 41316898 41316898 C T snp upstream AK097370 rs35061187 0.290735 0 0 1 0 0 intergenic upstream ncRNA_intronic RAB4B-EGLN2(dist=2552),CYP2A6(dist=32545) AK097370 ENSG00000233622 Na Na Na Na Na Na Het;C>T 2805;169|128 Het;C>T 2557;133|122 Hom;C>T 6219;0|228 N N - 19 41324354 41324354 A G snp intronic AC008537.1 rs3213808 0.267372 0 0 1 0 0 intergenic intergenic intronic RAB4B-EGLN2(dist=10008),CYP2A6(dist=25089) AK097370(dist=7680),CYP2A6(dist=25089) ENSG00000268797 Na Na Na Na Na Na Het;A>G 1312;100|58 Het;A>G 1071;90|48 Hom;A>G 3105;0|109 N N - 19 41324832 41324832 T C snp ncRNA_intronic CYP2F2P rs2545773 0.654752 0 0 1 0 0 intergenic intergenic ncRNA_intronic RAB4B-EGLN2(dist=10486),CYP2A6(dist=24611) AK097370(dist=8158),CYP2A6(dist=24611) ENSG00000237118 Na Na Na Na Na Na Het;T>C 260;8|9 Het;T>C 128;15|6 Hom;T>C 253;0|8 N N - 19 41328196 41328196 C T snp ncRNA_exonic CYP2F2P rs34842714 0.278554 0 0 1 0 0 intergenic intergenic ncRNA_exonic RAB4B-EGLN2(dist=13850),CYP2A6(dist=21247) AK097370(dist=11522),CYP2A6(dist=21247) ENSG00000237118 Na Na Na Na Na Na Het;C>T 524;35|27 Het;C>T 292;26|15 Hom;C>T 1544;0|58 N N - 19 41354712 41354712 A G snp intronic CYP2A6 Cyp2a5 ENSG00000255974 cytochrome P450 family 2 subfamily A member 6 chr19:41349443-41356352 This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008] bladder cancer; personality; CYP2A6; lower CYP2A6 activity; genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores; pharmacogenetic studies; oral cancer; nicotine dependence; cotinine; lung cancer; smoking behavior; nicotine; colorectal cancer; HIV Infections; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications; cervical cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; nicotine levels smoking behavior; lung cancer; esophageal cancer; Body Weight|HIV Infections; lung cancer; nicotine; iron stores; Drug Toxicity; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; Neoplasms; Epilepsy; nicotine dependence smoking behavior; liver function; smoking behavior; nomal variation; nicotine; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; CYP2A6 phenotype; nasopharyngeal cancer; Lung Neoplasms|Neoplasm of lung |Tobacco Use Disorder; enzyme activity; pancreatic cancer; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; normal variation; Growth Disorders; head and neck cancer; ADHD; Tobacco Use Disorder; smoking behavior; nicotine amounts inhaled per day; Smoking; Genomic Instability|Mesothelioma|Pleural Neoplasms; esophageal cancer; emphysema; tobacco dependence; Carcinoma, Hepatocellular|Liver Diseases|Liver Neoplasms; Lung Neoplasms|Neoplasm of lung ; lung cancer; HIV Infections|[X]Human immunodeficiency virus disease; efavirenz mid-dose concentration | HIV; Esophageal Neoplasms|Oesophageal neoplasm; ovarian cancer ; smoking; nicotine smoking behavior; drug-related genes ; gastric cancer; lung cancer; smoking behavior; liver cancer; coumarin pharmacokinetics nicotine Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0008202;steroid metabolic process;IMP|GO:0009804;coumarin metabolic process;TAS|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;IBA|GO:0042738;exogenous drug catabolic process;IDA|GO:0046226;coumarin catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008389;coumarin 7-hydroxylase activity;TAS|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A6 https://hpo.jax.org/app/browse/search?q=CYP2A6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=122720 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A6&submit=Quick%0D%20165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A6 rs8192725 0.769968 0.7736 0.7469 1 0 0 intronic intronic intronic CYP2A6 CYP2A6 ENSG00000255974,ENSG00000268797 Na Na Na Na Na Na Het;A>G 657;33|26 Het;A>G 449;18|18 Hom;A>G 1831;0|67 N N - 19 41356281 41356281 T C snp synonymous SNV A51G V17V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP2A6 Cyp2a5 ENSG00000255974 cytochrome P450 family 2 subfamily A member 6 chr19:41349443-41356352 This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008] bladder cancer; personality; CYP2A6; lower CYP2A6 activity; genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores; pharmacogenetic studies; oral cancer; nicotine dependence; cotinine; lung cancer; smoking behavior; nicotine; colorectal cancer; HIV Infections; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications; cervical cancer; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; nicotine levels smoking behavior; lung cancer; esophageal cancer; Body Weight|HIV Infections; lung cancer; nicotine; iron stores; Drug Toxicity; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; Neoplasms; Epilepsy; nicotine dependence smoking behavior; liver function; smoking behavior; nomal variation; nicotine; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; CYP2A6 phenotype; nasopharyngeal cancer; Lung Neoplasms|Neoplasm of lung |Tobacco Use Disorder; enzyme activity; pancreatic cancer; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; normal variation; Growth Disorders; head and neck cancer; ADHD; Tobacco Use Disorder; smoking behavior; nicotine amounts inhaled per day; Smoking; Genomic Instability|Mesothelioma|Pleural Neoplasms; esophageal cancer; emphysema; tobacco dependence; Carcinoma, Hepatocellular|Liver Diseases|Liver Neoplasms; Lung Neoplasms|Neoplasm of lung ; lung cancer; HIV Infections|[X]Human immunodeficiency virus disease; efavirenz mid-dose concentration | HIV; Esophageal Neoplasms|Oesophageal neoplasm; ovarian cancer ; smoking; nicotine smoking behavior; drug-related genes ; gastric cancer; lung cancer; smoking behavior; liver cancer; coumarin pharmacokinetics nicotine Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0008202;steroid metabolic process;IMP|GO:0009804;coumarin metabolic process;TAS|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;IBA|GO:0042738;exogenous drug catabolic process;IDA|GO:0046226;coumarin catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008389;coumarin 7-hydroxylase activity;TAS|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A6 https://hpo.jax.org/app/browse/search?q=CYP2A6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=122720 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A6&submit=Quick%0D%20165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A6 rs1137115 0.760583 0.7582 0.7537 1 0 0 exonic exonic exonic CYP2A6 CYP2A6 ENSG00000255974 synonymous SNV synonymous SNV unknown CYP2A6:NM_000762:exon1:c.A51G:p.V17V, CYP2A6:uc002opl.4:exon1:c.A51G:p.V17V, UNKNOWN Het;T>C 3403;100|143 Het;T>C 2356;107|111 Hom;T>C 6046;0|224 N N - 19 41381647 41381647 A C snp nonsynonymous SNV T1436G V479G aliphatic,hydrophobic,neutral aliphatic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs12460590 0.714257 0 0.6679 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon9:c.T1436G:p.V479G,CYP2A7:NM_030589:exon8:c.T1283G:p.V428G, CYP2A7:uc002opo.3:exon9:c.T1436G:p.V479G,CYP2A7:uc002opn.3:exon8:c.T1283G:p.V428G,CYP2A7:uc002opm.3:exon9:c.T1436G:p.V479G, UNKNOWN Het;A>C 2076;143|89 Het;A>C 542;110|30 Hom;A>C 2309;0|72 N N - 19 41382607 41382607 A C snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2316206 0.467053 0 0.7111 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;A>C 1812;62|48 Het;A>C 1666;48|45 Hom;A>C 3850;0|90 N N - 19 41382608 41382608 G A snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2316207 0.467053 0 0.7102 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>A 1812;62|47 Het;G>A 1666;48|43 Hom;G>A 3850;0|83 N N - 19 41382612 41382612 C T snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2316208 0.665735 0 0.7103 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;C>T 1791;58|46 Het;C>T 1635;43|41 Hom;C>T 3607;0|78 N N - 19 41382613 41382613 G A snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2316209 0.648163 0 0.7108 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>A 1723;57|46 Het;G>A 1564;42|40 Hom;G>A 3527;0|76 N N - 19 41382645 41382645 G A snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3865455 0.728435 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>A 807;34|23 Het;G>A 682;30|20 Hom;G>A 1871;0|44 N N - 19 41382653 41382653 A G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2388869 0.728435 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;A>G 718;28|20 Het;A>G 599;29|17 Hom;A>G 1776;0|39 N N - 19 41382655 41382655 T G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2316210 0.728235 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;T>G 728;28|19 Het;T>G 599;29|17 Hom;T>G 1727;0|36 N N - 19 41382665 41382665 G A snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3852869 0.729233 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>A 647;23|17 Het;G>A 518;26|15 Hom;G>A 1367;0|31 N N - 19 41383344 41383344 T C snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs2302988 0.761382 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;T>C 342;23|15 Het;T>C 590;21|23 Hom;T>C 1603;2|58 N N - 19 41383378 41383378 C A snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs16958956 0.794329 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;C>A 186;11|8 Het;C>A 309;13|12 Hom;C>A 770;0|24 N N - 19 41383501 41383501 A G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs34615895 0.519169 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;A>G 38;2|3 Het;A>G 113;1|4 Hom;A>G 104;0|4 N N - 19 41383517 41383517 G C snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs34457531 0.761581 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>C 32;3|2 Het;G>C 119;1|5 Hom;G>C 99;0|4 N N - 19 41383799 41383799 G A snp nonsynonymous SNV C931T R311C polar,hydrophilic,charged(+) polar,hydrophobic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3869579 0.519169 0.4869 0.5226 0.50 6 12 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon6:c.C931T:p.R311C,CYP2A7:NM_030589:exon5:c.C778T:p.R260C, CYP2A7:uc002opo.3:exon6:c.C931T:p.R311C,CYP2A7:uc002opn.3:exon5:c.C778T:p.R260C,CYP2A7:uc002opm.3:exon6:c.C931T:p.R311C, UNKNOWN Het;G>A 1536;95|75 Het;G>A 1159;79|54 Hom;G>A 3035;0|113 N N - 19 41384637 41384637 C T snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs4079367 0.519169 0.4858 0.5215 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;C>T 966;25|43 Het;C>T 535;39|28 Hom;C>T 1948;2|72 N N - 19 41384675 41384675 T C snp nonsynonymous SNV A821G H274R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs4079366 0.794329 0.7949 0.7599 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon5:c.A821G:p.H274R,CYP2A7:NM_030589:exon4:c.A668G:p.H223R, CYP2A7:uc002opo.3:exon5:c.A821G:p.H274R,CYP2A7:uc002opn.3:exon4:c.A668G:p.H223R,CYP2A7:uc002opm.3:exon5:c.A821G:p.H274R, UNKNOWN Het;T>C 1541;51|68 Het;T>C 1062;76|52 Hom;T>C 3689;0|137 N N - 19 41385800 41385800 T G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs12975382 0.516573 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;T>G 222;9|7 Het;T>G 144;7|5 Hom;T>G 178;0|5 N N - 19 41385834 41385834 C G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs12973598 0.516973 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;C>G 347;17|12 Het;C>G 387;13|13 Hom;C>G 424;0|11 N N - 19 41386136 41386136 A C snp nonsynonymous SNV T507G D169E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs4142867 0.519169 0.4869 0.5229 0.25 3 12 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon4:c.T507G:p.D169E,CYP2A7:NM_030589:exon3:c.T354G:p.D118E, CYP2A7:uc002opo.3:exon4:c.T507G:p.D169E,CYP2A7:uc002opn.3:exon3:c.T354G:p.D118E,CYP2A7:uc002opm.3:exon4:c.T507G:p.D169E, UNKNOWN Het;A>C 2590;109|114 Het;A>C 2123;90|92 Hom;A>C 5448;0|193 N N - 19 41386209 41386209 A G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3815704 0.519768 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;A>G 1549;58|63 Het;A>G 1226;48|51 Hom;A>G 3084;0|107 N N - 19 41386420 41386420 A C snp nonsynonymous SNV T457G S153A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs56081734 0.51857 0.4729 0.5206 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon3:c.T457G:p.S153A,CYP2A7:NM_030589:exon2:c.T304G:p.S102A, CYP2A7:uc002opo.3:exon3:c.T457G:p.S153A,CYP2A7:uc002opn.3:exon2:c.T304G:p.S102A,CYP2A7:uc002opm.3:exon3:c.T457G:p.S153A, UNKNOWN Het;A>C 2216;98|98 Het;A>C 1939;98|90 Hom;A>C 4673;2|171 N N - 19 41386486 41386486 C A snp nonsynonymous SNV G391T A131S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3815708 0.517772 0 0.0724 0.00 0 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon3:c.G391T:p.A131S,CYP2A7:NM_030589:exon2:c.G238T:p.A80S, CYP2A7:uc002opo.3:exon3:c.G391T:p.A131S,CYP2A7:uc002opn.3:exon2:c.G238T:p.A80S,CYP2A7:uc002opm.3:exon3:c.G391T:p.A131S, UNKNOWN Het;C>A 2203;68|59 Ref Hom;C>A 4006;0|91 N N - 19 41386487 41386487 A G snp synonymous SNV T390C F130F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3815709 0.517772 0 0.0666 1 0 0 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 synonymous SNV synonymous SNV unknown CYP2A7:NM_000764:exon3:c.T390C:p.F130F,CYP2A7:NM_030589:exon2:c.T237C:p.F79F, CYP2A7:uc002opo.3:exon3:c.T390C:p.F130F,CYP2A7:uc002opn.3:exon2:c.T237C:p.F79F,CYP2A7:uc002opm.3:exon3:c.T390C:p.F130F, UNKNOWN Het;A>G 2203;66|57 Ref Hom;A>G 4006;0|88 N N - 19 41386494 41386494 A C snp nonsynonymous SNV T383G L128R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3815710 0.514976 0 0.0657 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon3:c.T383G:p.L128R,CYP2A7:NM_030589:exon2:c.T230G:p.L77R, CYP2A7:uc002opo.3:exon3:c.T383G:p.L128R,CYP2A7:uc002opn.3:exon2:c.T230G:p.L77R,CYP2A7:uc002opm.3:exon3:c.T383G:p.L128R, UNKNOWN Het;A>C 2083;65|53 Ref Hom;A>C 3707;0|81 N N - 19 41386527 41386527 G A snp nonsynonymous SNV C350T A117V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs58798281 0.517971 0 0.2610 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon3:c.C350T:p.A117V,CYP2A7:NM_030589:exon2:c.C197T:p.A66V, CYP2A7:uc002opo.3:exon3:c.C350T:p.A117V,CYP2A7:uc002opn.3:exon2:c.C197T:p.A66V,CYP2A7:uc002opm.3:exon3:c.C350T:p.A117V, UNKNOWN Het;G>A 1229;42|35 Ref Hom;G>A 1740;0|62 N N - 19 41386544 41386544 C G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs71337574 0.518171 0 0.3636 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;C>G 1156;38|31 Ref Hom;C>G 2335;0|53 N N - 19 41386547 41386547 G C snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs74219554 0.518371 0 0.3561 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>C 1159;37|31 Ref Hom;G>C 2335;0|53 N N - 19 41386584 41386584 G T snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs3815714 0.515575 0.4058 0.4131 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>T 640;26|25 Ref Hom;G>T 1304;0|46 N N - 19 41387300 41387300 G A snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs10425037 0.51877 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;G>A 209;5|6 Het;G>A 191;5|6 Hom;G>A 291;0|6 N N - 19 41387306 41387306 C G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs10424691 0.524561 0 0 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;C>G 209;5|6 Het;C>G 194;5|6 Hom;C>G 291;0|8 N N - 19 41387620 41387620 A G snp synonymous SNV T217C L73L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs10425150 0.517971 0 0.4777 1 0 0 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 synonymous SNV synonymous SNV unknown CYP2A7:NM_000764:exon2:c.T217C:p.L73L, CYP2A7:uc002opo.3:exon2:c.T217C:p.L73L,CYP2A7:uc002opm.3:exon2:c.T217C:p.L73L, UNKNOWN Het;A>G 2452;198|96 Het;A>G 1393;174|65 Hom;A>G 3162;0|99 N N - 19 41387647 41387647 A G snp nonsynonymous SNV T190C C64R polar,hydrophobic,neutral polar,hydrophilic,charged(+) CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs10425169 0.518371 0 0.3128 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon2:c.T190C:p.C64R, CYP2A7:uc002opo.3:exon2:c.T190C:p.C64R,CYP2A7:uc002opm.3:exon2:c.T190C:p.C64R, UNKNOWN Het;A>G 3540;192|99 Het;A>G 2544;168|73 Hom;A>G 4462;0|99 N N - 19 41387656 41387656 A T snp nonsynonymous SNV T181A F61I aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs10425176 0.518171 0 0.2999 0.08 1 13 exonic exonic exonic CYP2A7 CYP2A7 ENSG00000198077 nonsynonymous SNV nonsynonymous SNV unknown CYP2A7:NM_000764:exon2:c.T181A:p.F61I, CYP2A7:uc002opo.3:exon2:c.T181A:p.F61I,CYP2A7:uc002opm.3:exon2:c.T181A:p.F61I, UNKNOWN Het;A>T 3562;178|100 Het;A>T 2617;152|75 Hom;A>T 4485;0|103 N N - 19 41387669 41387669 A G snp intronic CYP2A7 Cyp2a5 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 chr19:41381344-41388657 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] CYP2A6; Chronic renal failure|Kidney Failure, Chronic Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. CYP2E1 reactions GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2A7 https://www.ncbi.nlm.nih.gov/omim/?term=608054 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2A7&submit=Quick%0D%16807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2A7 rs10425185 0.803914 0 0.7300 1 0 0 intronic intronic intronic CYP2A7 CYP2A7 ENSG00000198077,ENSG00000268797 Na Na Na Na Na Na Het;A>G 2190;158|96 Het;A>G 1560;120|76 Hom;A>G 2906;0|105 N N - 19 41396690 41396690 G A snp upstream CYP2G1P rs3909342 0.578075 0 0 1 0 0 upstream intronic intronic CYP2G1P CYP2A7 ENSG00000268797 Na Na Na Na Na Na Het;G>A 209;23|11 Het;G>A 193;9|9 Hom;G>A 476;0|15 N N - 19 41396865 41396865 G A snp ncRNA_exonic CYP2G1P rs4803397 0.797125 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;G>A 1191;99|55 Het;G>A 983;83|47 Hom;G>A 3236;0|121 N N - 19 41396915 41396915 A G snp ncRNA_exonic CYP2G1P rs10406188 0.427117 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;A>G 1215;80|56 Het;A>G 988;66|45 Hom;A>G 3192;0|110 N N - 19 41397370 41397370 A C snp ncRNA_exonic CYP2G1P rs3852870 0.578075 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;A>C 1046;70|44 Het;A>C 1007;52|43 Hom;A>C 2850;0|101 N N - 19 41397499 41397499 C G snp ncRNA_exonic CYP2G1P rs8103288 0.427915 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;C>G 2421;102|99 Het;C>G 1726;86|70 Hom;C>G 5031;0|171 N N - 19 41397661 41397661 C A snp ncRNA_exonic CYP2G1P rs8103444 0.769768 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;C>A 1732;90|70 Het;C>A 1777;72|76 Hom;C>A 3979;2|145 N N - 19 41397806 41397806 C A snp ncRNA_exonic CYP2G1P rs8106551 0.769768 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;C>A 1549;59|64 Het;C>A 1565;58|64 Hom;C>A 3343;0|118 N N - 19 41403982 41403982 G GT indel ncRNA_intronic CYP2G1P rs11083583 0.65655 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;+T 693;9|27 Het;+T 225;16|11 Hom;+T 942;0|28 N N - 19 41404196 41404196 A G snp ncRNA_exonic CYP2G1P rs10419393 0.560104 0 0.5366 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;A>G 826;54|38 Het;A>G 670;46|32 Hom;A>G 1554;2|56 N N - 19 41405962 41405962 T G snp ncRNA_exonic CYP2G1P rs4803400 0.560304 0 0.5369 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CYP2G1P CYP2G1P ENSG00000130612 Na Na Na Na Na Na Het;T>G 2941;97|124 Het;T>G 1684;106|73 Hom;T>G 5993;2|207 N N - 19 41858921 41858921 G A snp nonsynonymous SNV C29T P10L hydrophobic,neutral aliphatic,hydrophobic,neutral TGFB1 Tgfb1 ENSG00000105329 transforming growth factor beta 1 chr19:41807492-41859816 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016] cardiovascular; Camurati-Engelmann disease; aging; preeclampsia; Pre-eclampsia; paediatric renal allograft; lung cancer; Pulmonary Fibrosis; prostate cancer; polycystic kidney disease; Hyperparathyroidism, Secondary; Gestational trophoblastic neoplasms; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Carcinoma, Squamous Cell|Esophageal Neoplasms; Epstein-Barr Virus Infections|Hematologic Diseases; Hepatitis C, Chronic|Viremia; bone mineral density; Scleroderma, Systemic|Systemic Scleroderma; Abortion, Habitual; Glomerulonephritis, IGA|Kidney Failure, Chronic; Mucocutaneous Lymph Node Syndrome; Osteoporosis|Spinal Fractures; Respiratory Hypersensitivity; allograft dysfunction, renal; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; cardiomyopathy; heart anomalies, congenital; Hypertension, Pulmonary; Angioedema|Drug Hypersensitivity|Urticaria; Tracheal Stenosis; Dupuytren's Contracture; Adenocarcinoma|Colorectal Neoplasms; Total IgE; atopic dermatitis; very low bone mass; hepatitis B; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; esophageal cancer ; Multiple System Atrophy; Adenoma|Colorectal Neoplasms; obesity; Sjogren's syndrome; Osteoporosis; Cystic Fibrosis|Urogenital Abnormalities; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Food Hypersensitivity; Gingival Overgrowth; asthma; renal allograft rejection; Chronic renal failure|Fibrosis|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Kidney Failure, Chronic; Hepatopulmonary Syndrome|Liver Cirrhosis; Cardiovascular Diseases|Death; BMI; Carcinoma, Squamous Cell|Cervical Neoplasm|Neoplasm Invasiveness|Squamous cell carcinoma|Uterine Cervical Neoplasms; Asthma|; Graves disease; Fibrosis|Neoplasms|Radiation Injuries; chronic idiopathic neutropenia; early onset ischemic heart disease.; diabetes, type 1; hepatitis C; kidney graft survival; Osteolysis|Prosthesis Failure; Hepatitis C|HIV Infections; Leprosy; Adenomatous Polyps|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Urticaria; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; HCV-induced liver fibrosis; radiation-induced damage to normal tissues; left ventricular hypertrophy; interstitial lung diseases; Asbestosis|Lung Neoplasms|Mesothelioma|Silicosis; Albuminuria|Hypertension; Paraproteinemias; Type 2 diabetes; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Pemphigus; Apoplexy|Brain Ischemia|Dementia, Vascular|Stroke; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Berylliosis|Sarcoidosis; coronary artery disease; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Kidney Failure, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Kidney Failure|kidney; failure|Renal Insufficiency; Inflammation|Venous Thromboembolism; rheumatic heart disease; Apoplexy|Myocardial Infarction|Stroke; lymphoproliferative disorders, post-transplant; kidney failure, chronic polycystic kidney disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; retinopathy of prematurity; graft-vs-host disease; ossification of the posterior longitudinal ligament; proliferative vitreoretinopathy rhegmatogenous retinal detachment; preterm delivery; Stomach Neoplasms; Asthma|Constriction, Pathologic|; Sarcoidosis|Tuberculosis, Pulmonary; Cicatrization|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux; Autoimmune thyroiditis|Graves Disease|Graves' Disease|Hashimoto Disease|Thyroiditis, Autoimmune; increased incidence of invasive breast cancer; ankylosing spondylitis; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Dementia; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; Cleft Lip|Cleft Palate; Glomerulonephritis, IGA|IGA Glomerulonephritides; Glaucoma, Open-Angle; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Albuminuria|Hypertension|Kidney Diseases; brucellosis; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Inflammation|Insulin Resistance|Kidney Diseases; lung transplant complications; chronic lung disease; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; heart transplant complications; Infection|Inflammation|Premature Birth; Myopia; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Glomerulonephritis|Kidney Failure, Chronic; Fibrosis|Hepatitis C, Chronic; B-Cell Lymphomas|Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; pancreatitis; cirrhosis; liver cancer; bladder cancer; Exfoliation Syndrome|Glaucoma, Open-Angle; Irritable Bowel Syndrome; Leptospirosis|Swamp fever; Albuminuria|Inflammation|Kidney Diseases; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; radiotherapy; ovarian cancer ; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Chlamydia Infections|Infertility, Female; Delayed Graft Function|Inflammation; Carcinoma, Squamous Cell|Oropharyngeal Neoplasms|Papillomavirus Infections|Squamous cell carcinoma|Tumor of Oropharynx; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Wegener Granulomatosis; Alzheimer Disease|Alzheimer's Disease|Neurodegenerative Diseases; renal allograft outcome; Silicosis|Tuberculosis, Pulmonary; Myocardial Infarction; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Autoimmune Diseases|Pelvic Pain|Prostatitis|Syndrome; stomach cancer; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Immune System Diseases; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Chronic renal failure|Kidney Failure, Chronic; parvovirus; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; Nephrotic Syndrome; Breast Neoplasms|Mammary Neoplasms; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; duodenal ulcer gastric ulcer; diabetes, type 1 ; Infection|Postoperative Complications; bone density; liver transplant; hepatitis C, chronic; ossification of spine; Hepatitis C; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; cirrhosis; SIDS/sudden infant death syndrome; Thrombosis; Otosclerosis; Brain Ischemia|Inflammation|Stroke; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma|Liver neoplasms; Nasopharyngeal Neoplasms|Radiation Pneumonitis; Hepatitis C, Chronic|Liver Cirrhosis; Hepatitis B, Chronic; Penile Induration|Peyronie Disease; Endometriosis; radiotherapy response; dental implants; metabolism disorders; kidney cancer; end-stage heart failure; small for gestational age; juvenile arthritis; sarcoidosis; Coronary Disease|Coronary heart disease|Graft vs Host Disease; Chronic Obstructive Pulmonary Disease; myocardial infarction; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms|Squamous cell carcinoma; kidney transplant complications; leukemia; keloid disease; fibrotic lung disease; Rheumatoid spondylitis|Spondylitis, Ankylosing; Brucellosis; Hepatitis B|Recurrence; Pulmonary Disease, Chronic Obstructive; Aggressive Periodontitis|Periodontitis, Juvenile; prostatic hyperplasia; Glomerulonephritis, IGA; Lupus Erythematosus, Systemic; Coronary Disease; Corneal Dystrophies, Hereditary; Coronary Disease|Coronary heart disease; Chronic renal failure|Kidney Failure, Chronic|Nephritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Liver Cirrhosis|Liver Neoplasms; Asthma|Drug Hypersensitivity|Rhinitis, Allergic, Perennial|Sinusitis; Oral Submucous Fibrosis; Tuberculosis; Colitis, Ulcerative; osteoporosis, postmenopausal; estradiol; Cadaver; allograft rejection, heart; Asthma; desensitization in solid organ transplant recipients ; Coronary Artery Disease|Inflammation; Atrophy|Gastritis|Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; Chronic renal failure|Hypertension, Renal|Kidney Failure, Chronic|Renal hypertension; Breast Neoplasms|Carcinoma, Ductal|Carcinoma, Lobular|Ductal Carcinoma|Mammary Neoplasms|Neoplasm Recurrence, Local; Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatic neoplasm|Pancreatic Neoplasms; berylliosis; Uterine Cervical Incompetence; G6PD deficiency; Cystic Fibrosis; Myelodysplastic Syndromes|Preleukemia; Dengue Hemorrhagic Fever; Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity|; Emphysema; longevity; bone marrow transplantation; respiratory syncytial virus bronchiolitis; pemphigus vulgaris; Behcet Syndrome|; Osteoporosis, Postmenopausal; Corneal Dystrophies, Hereditary|Hereditary corneal dystrophy; idiopathic pulmonary fibrosis; colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate; Hepatitis B|Hepatitis C|Reperfusion Injury; Hypersensitivity; Chronic Hepatitis C; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Myocardial ischemia|Postoperative Complications|Rheumatic Heart Disease; depression; Eclampsia|Pre-Eclampsia|Syndrome; graft-versus-host disease; periodontitis; Polyarteritis Nodosa|Wegener Granulomatosis; Chronic ulcerative colitis|Colitis, Ulcerative; allergic rhinitis; systemic sclerosis; Idiopathic Dilated Cardiomyopathy; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; Helicobacter Infections|Peptic Ulcer|Stomach Neoplasms; colorectal cancer: association; celiac disease; Multiple Sclerosis, Relapsing-Remitting; Cicatrization|Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatitis, chronic; allograft outcome; Neoplasms; Cystic Fibrosis|Lung Diseases; esophageal adenocarcinoma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Autoimmune Diseases|Gastritis; HIV; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; bronchiolitis obliterans syndrome; chronic obstructive pulmonary disease/COPD; hepatocellular carcinoma; parvovirus B19 infection; Migraine Disorders; Common Variable Immunodeficiency; smoking; Delayed Graft Function; Wounds and Injuries; Heart Valve Diseases|Rheumatic Heart Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Adenocarcinoma|Stomach Neoplasms; Kidney Diseases; Pancreatitis; Anemia, Refractory|Myelodysplastic Syndromes|Preleukemia|Refractory anaemia -RETIRED-; hypodontia; subcutaneous fibrosis; Hepatitis B, Chronic|Liver Cirrhosis; Graft vs Host Disease; Alveolitis, Extrinsic Allergic|Bird Fancier's Lung|Extrinsic allergic alveolitis; Lichen Planus, Oral; patent ductus arteriosus; Multiple Sclerosis; infertility, male; cervical intraepithelial neoplasia grade 3; Inflammation|Myocardial Infarction; Prosthesis Failure; pneumoconiosis; urinary tract infection vesicoureteral reflux; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; diabetes, type 1 diabetic nephropathy; colorectal cancer; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Giardiasis; Albuminuria|Hypertension|Hypertrophy, Left Ventricular; nephropathy; Q fever; melanoma; null; Cystic Fibrosis|; Dengue Hemorrhagic Fever|; cyclosporine ; diabetic nephropathy; Celiac Disease; Renal Insufficiency; Myopia, Degenerative; Abdominal Aortic Aneurysm; Tuberculosis, Pulmonary; blood pressure; nephropathy, IgA; Hepatitis C, Chronic; Breast Neoplasms|Fibrosis|Mammary Neoplasms; autoimmune-associated congenital heart block.; angiopathy, cerebral amyloid dementia, vascular neocortical plaques; Pneumoconiosis; Eclampsia|Pre-Eclampsia; Hepatitis C|Pregnancy Complications, Infectious; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; rheumatoid arthritis; meningioma; cervical cancer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Psoriasis; multiple sclerosis; liver transplantation, immunosuppression after; Arthritis, Rheumatoid|Hypertension; Graft vs Host Disease|Leukemia; Cicatrix, Hypertrophic|Keloid; Cadaver|Chronic renal failure|Kidney Failure, Chronic; Cystic Fibrosis|Pseudomonas Infections; Hemochromatosis|Liver Cirrhosis; Hepatitis B, Chronic|Hepatitis C, Chronic|Hepatitis, Autoimmune; kidney; failure|Renal Insufficiency; breast cancer; Asthma severity; Bronchopulmonary Dysplasia|; Rhinitis, Allergic, Perennial; Periodontal Diseases|Periodontitis; hypertension; indoleamine-pyrrole 2,3-dioxygenase activity; pulmonary fibrosis sarcoidosis; Brucellosis|; epithelial ovarian cancer ; Intracranial Aneurysm|Stroke; Hepatitis C|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; Cardiovascular Disease; Abortion, Spontaneous; Alzheimer's disease; Cardiovascular Diseases|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Hepatitis C|Recurrence; abdominal aortic aneurysm; renal transplantation, rejection after; Amyotrophic Lateral Sclerosis|Anoxia|; Breast Neoplasms|Carcinoma, Ductal, Breast|Fibrosis|Invasive Ductal Breast Carcinoma|Mammary Neoplasms|Radiation Injuries; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; atherosclerosis; Cervical Neoplasm|Endometrial Neoplasms|Radiation Injuries|Uterine Cervical Neoplasms; breast cancer ; Helicobacter Infections|Stomach Neoplasms; Chlamydia Infections|Inflammation|Trachoma; Hepatitis B|Hepatitis D; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; kidney transplant; testicular cancer; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Liver Neoplasms; Dementia, Vascular|; Liver Cirrhosis, Alcoholic|Liver Diseases, Alcoholic; Arthritis, Rheumatoid|Rheumatoid Arthritis; Periodontitis; graft rejection, liver; oral submucous fibrosis; chronic obstructive pulmonary disease; heart transplant; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Inflammation|Premature Birth; thrombosis; hepatitis B liver disease, chronic and cirrhosis; osteoarthritis; Asthma|Hypersensitivity; COPD | Chronic obstructive Pulmonary Disease; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cellulitis|Obesity; cell-surface B7 expression; cytokine production; prevalent vertebral fractures; Bone Mineral Density; Clonorchiasis|Fibrosis; Kidney Diseases|Postoperative Complications; Atrial Fibrillation|Hypertension; Inflammation; tuberculosis; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; Apoplexy|Stroke; liver graft rejection; Wegener's granulomatosis; graft versus host disease; liver disease; hepatitis C, chronic; heart failure; respiratory syncytial virus; normal variation; Recurrence|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; lung function; Liver Failure; hepatitis C infection; childhood idiopathic thrombocytopenic purpura.; systemic lupus erythematosus; Vesico-Ureteral Reflux; Carcinoma|Colorectal Neoplasms; Fractures, Bone|Osteoporosis|Spinal Fractures; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; vesicoureteral reflux; pregnancy loss, recurrent; liver cancer; advanced-stage endometriosis; Biliary Tract Neoplasms|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Hypercholesterolemia|LDLC levels; inflammatory bowel disease; Carotid artery stenosis|Carotid Stenosis; diabetes, type 2; osteoporosis; cardiac transplantation; Atopic asthma; bronchodilator response; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Chagas Disease|; Fatty Liver|Liver Cirrhosis|Obesity, Morbid Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. RUNX3 regulates p14-ARF GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA|GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0009986;cell surface;IMP|GO:0030141;secretory granule;IEA|GO:0030424;axon;IEA|GO:0031012;extracellular matrix;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043025;neuronal cell body;IEA|GO:0072562;blood microparticle;IDA GO:0001948;glycoprotein binding;IPI|GO:0003823;antigen binding;IPI|GO:0005114;type II transforming growth factor beta receptor binding;IMP|GO:0005125;cytokine activity;TAS|GO:0005160;transforming growth factor beta receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019899;enzyme binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IMP|GO:0034714;type III transforming growth factor beta receptor binding;IMP|GO:0042803;protein homodimerization activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047485;protein N-terminus binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGFB1 https://www.uniprot.org/uniprot/P01137 https://hpo.jax.org/app/browse/search?q=TGFB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190180 http://www.informatics.jax.org/searchtool/Search.do?query=TGFB1&submit=Quick%0D%103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFB1 rs1800470 0.545327 0 0.5623 0.20 2 10 exonic exonic exonic TGFB1 TGFB1 ENSG00000105329 nonsynonymous SNV nonsynonymous SNV unknown TGFB1:NM_000660:exon1:c.C29T:p.P10L, TGFB1:uc002oqh.2:exon1:c.C29T:p.P10L, UNKNOWN Het;G>A 776;48|36 Het;G>A 621;27|30 Hom;G>A 1783;0|66 N N - 19 41860296 41860296 A G snp upstream;downstream TGFB1 Tgfb1 ENSG00000105329 transforming growth factor beta 1 chr19:41807492-41859816 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016] cardiovascular; Camurati-Engelmann disease; aging; preeclampsia; Pre-eclampsia; paediatric renal allograft; lung cancer; Pulmonary Fibrosis; prostate cancer; polycystic kidney disease; Hyperparathyroidism, Secondary; Gestational trophoblastic neoplasms; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Carcinoma, Squamous Cell|Esophageal Neoplasms; Epstein-Barr Virus Infections|Hematologic Diseases; Hepatitis C, Chronic|Viremia; bone mineral density; Scleroderma, Systemic|Systemic Scleroderma; Abortion, Habitual; Glomerulonephritis, IGA|Kidney Failure, Chronic; Mucocutaneous Lymph Node Syndrome; Osteoporosis|Spinal Fractures; Respiratory Hypersensitivity; allograft dysfunction, renal; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; cardiomyopathy; heart anomalies, congenital; Hypertension, Pulmonary; Angioedema|Drug Hypersensitivity|Urticaria; Tracheal Stenosis; Dupuytren's Contracture; Adenocarcinoma|Colorectal Neoplasms; Total IgE; atopic dermatitis; very low bone mass; hepatitis B; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; esophageal cancer ; Multiple System Atrophy; Adenoma|Colorectal Neoplasms; obesity; Sjogren's syndrome; Osteoporosis; Cystic Fibrosis|Urogenital Abnormalities; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Food Hypersensitivity; Gingival Overgrowth; asthma; renal allograft rejection; Chronic renal failure|Fibrosis|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Kidney Failure, Chronic; Hepatopulmonary Syndrome|Liver Cirrhosis; Cardiovascular Diseases|Death; BMI; Carcinoma, Squamous Cell|Cervical Neoplasm|Neoplasm Invasiveness|Squamous cell carcinoma|Uterine Cervical Neoplasms; Asthma|; Graves disease; Fibrosis|Neoplasms|Radiation Injuries; chronic idiopathic neutropenia; early onset ischemic heart disease.; diabetes, type 1; hepatitis C; kidney graft survival; Osteolysis|Prosthesis Failure; Hepatitis C|HIV Infections; Leprosy; Adenomatous Polyps|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Urticaria; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; HCV-induced liver fibrosis; radiation-induced damage to normal tissues; left ventricular hypertrophy; interstitial lung diseases; Asbestosis|Lung Neoplasms|Mesothelioma|Silicosis; Albuminuria|Hypertension; Paraproteinemias; Type 2 diabetes; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Pemphigus; Apoplexy|Brain Ischemia|Dementia, Vascular|Stroke; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Berylliosis|Sarcoidosis; coronary artery disease; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Kidney Failure, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Kidney Failure|kidney; failure|Renal Insufficiency; Inflammation|Venous Thromboembolism; rheumatic heart disease; Apoplexy|Myocardial Infarction|Stroke; lymphoproliferative disorders, post-transplant; kidney failure, chronic polycystic kidney disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; retinopathy of prematurity; graft-vs-host disease; ossification of the posterior longitudinal ligament; proliferative vitreoretinopathy rhegmatogenous retinal detachment; preterm delivery; Stomach Neoplasms; Asthma|Constriction, Pathologic|; Sarcoidosis|Tuberculosis, Pulmonary; Cicatrization|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux; Autoimmune thyroiditis|Graves Disease|Graves' Disease|Hashimoto Disease|Thyroiditis, Autoimmune; increased incidence of invasive breast cancer; ankylosing spondylitis; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Dementia; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; Cleft Lip|Cleft Palate; Glomerulonephritis, IGA|IGA Glomerulonephritides; Glaucoma, Open-Angle; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Albuminuria|Hypertension|Kidney Diseases; brucellosis; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Inflammation|Insulin Resistance|Kidney Diseases; lung transplant complications; chronic lung disease; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; heart transplant complications; Infection|Inflammation|Premature Birth; Myopia; Chronic renal failure|Diabetic Nephropathies|Diabetic Nephropathy|Glomerulonephritis|Kidney Failure, Chronic; Fibrosis|Hepatitis C, Chronic; B-Cell Lymphomas|Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; pancreatitis; cirrhosis; liver cancer; bladder cancer; Exfoliation Syndrome|Glaucoma, Open-Angle; Irritable Bowel Syndrome; Leptospirosis|Swamp fever; Albuminuria|Inflammation|Kidney Diseases; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; radiotherapy; ovarian cancer ; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Chlamydia Infections|Infertility, Female; Delayed Graft Function|Inflammation; Carcinoma, Squamous Cell|Oropharyngeal Neoplasms|Papillomavirus Infections|Squamous cell carcinoma|Tumor of Oropharynx; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Wegener Granulomatosis; Alzheimer Disease|Alzheimer's Disease|Neurodegenerative Diseases; renal allograft outcome; Silicosis|Tuberculosis, Pulmonary; Myocardial Infarction; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Autoimmune Diseases|Pelvic Pain|Prostatitis|Syndrome; stomach cancer; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Immune System Diseases; Albuminuria|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Diabetic Retinopathy; Chronic renal failure|Kidney Failure, Chronic; parvovirus; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; Nephrotic Syndrome; Breast Neoplasms|Mammary Neoplasms; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; duodenal ulcer gastric ulcer; diabetes, type 1 ; Infection|Postoperative Complications; bone density; liver transplant; hepatitis C, chronic; ossification of spine; Hepatitis C; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; cirrhosis; SIDS/sudden infant death syndrome; Thrombosis; Otosclerosis; Brain Ischemia|Inflammation|Stroke; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma|Liver neoplasms; Nasopharyngeal Neoplasms|Radiation Pneumonitis; Hepatitis C, Chronic|Liver Cirrhosis; Hepatitis B, Chronic; Penile Induration|Peyronie Disease; Endometriosis; radiotherapy response; dental implants; metabolism disorders; kidney cancer; end-stage heart failure; small for gestational age; juvenile arthritis; sarcoidosis; Coronary Disease|Coronary heart disease|Graft vs Host Disease; Chronic Obstructive Pulmonary Disease; myocardial infarction; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms|Squamous cell carcinoma; kidney transplant complications; leukemia; keloid disease; fibrotic lung disease; Rheumatoid spondylitis|Spondylitis, Ankylosing; Brucellosis; Hepatitis B|Recurrence; Pulmonary Disease, Chronic Obstructive; Aggressive Periodontitis|Periodontitis, Juvenile; prostatic hyperplasia; Glomerulonephritis, IGA; Lupus Erythematosus, Systemic; Coronary Disease; Corneal Dystrophies, Hereditary; Coronary Disease|Coronary heart disease; Chronic renal failure|Kidney Failure, Chronic|Nephritis; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Liver Cirrhosis|Liver Neoplasms; Asthma|Drug Hypersensitivity|Rhinitis, Allergic, Perennial|Sinusitis; Oral Submucous Fibrosis; Tuberculosis; Colitis, Ulcerative; osteoporosis, postmenopausal; estradiol; Cadaver; allograft rejection, heart; Asthma; desensitization in solid organ transplant recipients ; Coronary Artery Disease|Inflammation; Atrophy|Gastritis|Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; Chronic renal failure|Hypertension, Renal|Kidney Failure, Chronic|Renal hypertension; Breast Neoplasms|Carcinoma, Ductal|Carcinoma, Lobular|Ductal Carcinoma|Mammary Neoplasms|Neoplasm Recurrence, Local; Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatic neoplasm|Pancreatic Neoplasms; berylliosis; Uterine Cervical Incompetence; G6PD deficiency; Cystic Fibrosis; Myelodysplastic Syndromes|Preleukemia; Dengue Hemorrhagic Fever; Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity|; Emphysema; longevity; bone marrow transplantation; respiratory syncytial virus bronchiolitis; pemphigus vulgaris; Behcet Syndrome|; Osteoporosis, Postmenopausal; Corneal Dystrophies, Hereditary|Hereditary corneal dystrophy; idiopathic pulmonary fibrosis; colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate; Hepatitis B|Hepatitis C|Reperfusion Injury; Hypersensitivity; Chronic Hepatitis C; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Myocardial ischemia|Postoperative Complications|Rheumatic Heart Disease; depression; Eclampsia|Pre-Eclampsia|Syndrome; graft-versus-host disease; periodontitis; Polyarteritis Nodosa|Wegener Granulomatosis; Chronic ulcerative colitis|Colitis, Ulcerative; allergic rhinitis; systemic sclerosis; Idiopathic Dilated Cardiomyopathy; Cystic Fibrosis|Hypertension, Portal|Liver Cirrhosis|Liver Diseases; Helicobacter Infections|Peptic Ulcer|Stomach Neoplasms; colorectal cancer: association; celiac disease; Multiple Sclerosis, Relapsing-Remitting; Cicatrization|Vesico-Ureteral Reflux|Vesicoureteral reflux; pancreatitis, chronic; allograft outcome; Neoplasms; Cystic Fibrosis|Lung Diseases; esophageal adenocarcinoma; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Autoimmune Diseases|Gastritis; HIV; Ache, Low Back|Intervertebral Disk Displacement|Spinal Osteophytosis; bronchiolitis obliterans syndrome; chronic obstructive pulmonary disease/COPD; hepatocellular carcinoma; parvovirus B19 infection; Migraine Disorders; Common Variable Immunodeficiency; smoking; Delayed Graft Function; Wounds and Injuries; Heart Valve Diseases|Rheumatic Heart Disease; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Adenocarcinoma|Stomach Neoplasms; Kidney Diseases; Pancreatitis; Anemia, Refractory|Myelodysplastic Syndromes|Preleukemia|Refractory anaemia -RETIRED-; hypodontia; subcutaneous fibrosis; Hepatitis B, Chronic|Liver Cirrhosis; Graft vs Host Disease; Alveolitis, Extrinsic Allergic|Bird Fancier's Lung|Extrinsic allergic alveolitis; Lichen Planus, Oral; patent ductus arteriosus; Multiple Sclerosis; infertility, male; cervical intraepithelial neoplasia grade 3; Inflammation|Myocardial Infarction; Prosthesis Failure; pneumoconiosis; urinary tract infection vesicoureteral reflux; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; diabetes, type 1 diabetic nephropathy; colorectal cancer; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Giardiasis; Albuminuria|Hypertension|Hypertrophy, Left Ventricular; nephropathy; Q fever; melanoma; null; Cystic Fibrosis|; Dengue Hemorrhagic Fever|; cyclosporine ; diabetic nephropathy; Celiac Disease; Renal Insufficiency; Myopia, Degenerative; Abdominal Aortic Aneurysm; Tuberculosis, Pulmonary; blood pressure; nephropathy, IgA; Hepatitis C, Chronic; Breast Neoplasms|Fibrosis|Mammary Neoplasms; autoimmune-associated congenital heart block.; angiopathy, cerebral amyloid dementia, vascular neocortical plaques; Pneumoconiosis; Eclampsia|Pre-Eclampsia; Hepatitis C|Pregnancy Complications, Infectious; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; rheumatoid arthritis; meningioma; cervical cancer; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Psoriasis; multiple sclerosis; liver transplantation, immunosuppression after; Arthritis, Rheumatoid|Hypertension; Graft vs Host Disease|Leukemia; Cicatrix, Hypertrophic|Keloid; Cadaver|Chronic renal failure|Kidney Failure, Chronic; Cystic Fibrosis|Pseudomonas Infections; Hemochromatosis|Liver Cirrhosis; Hepatitis B, Chronic|Hepatitis C, Chronic|Hepatitis, Autoimmune; kidney; failure|Renal Insufficiency; breast cancer; Asthma severity; Bronchopulmonary Dysplasia|; Rhinitis, Allergic, Perennial; Periodontal Diseases|Periodontitis; hypertension; indoleamine-pyrrole 2,3-dioxygenase activity; pulmonary fibrosis sarcoidosis; Brucellosis|; epithelial ovarian cancer ; Intracranial Aneurysm|Stroke; Hepatitis C|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; Cardiovascular Disease; Abortion, Spontaneous; Alzheimer's disease; Cardiovascular Diseases|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Hepatitis C|Recurrence; abdominal aortic aneurysm; renal transplantation, rejection after; Amyotrophic Lateral Sclerosis|Anoxia|; Breast Neoplasms|Carcinoma, Ductal, Breast|Fibrosis|Invasive Ductal Breast Carcinoma|Mammary Neoplasms|Radiation Injuries; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch; atherosclerosis; Cervical Neoplasm|Endometrial Neoplasms|Radiation Injuries|Uterine Cervical Neoplasms; breast cancer ; Helicobacter Infections|Stomach Neoplasms; Chlamydia Infections|Inflammation|Trachoma; Hepatitis B|Hepatitis D; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; kidney transplant; testicular cancer; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Liver Neoplasms; Dementia, Vascular|; Liver Cirrhosis, Alcoholic|Liver Diseases, Alcoholic; Arthritis, Rheumatoid|Rheumatoid Arthritis; Periodontitis; graft rejection, liver; oral submucous fibrosis; chronic obstructive pulmonary disease; heart transplant; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Premature Birth; Inflammation|Premature Birth; thrombosis; hepatitis B liver disease, chronic and cirrhosis; osteoarthritis; Asthma|Hypersensitivity; COPD | Chronic obstructive Pulmonary Disease; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cellulitis|Obesity; cell-surface B7 expression; cytokine production; prevalent vertebral fractures; Bone Mineral Density; Clonorchiasis|Fibrosis; Kidney Diseases|Postoperative Complications; Atrial Fibrillation|Hypertension; Inflammation; tuberculosis; Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Neoplasm of lung ; Apoplexy|Stroke; liver graft rejection; Wegener's granulomatosis; graft versus host disease; liver disease; hepatitis C, chronic; heart failure; respiratory syncytial virus; normal variation; Recurrence|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; lung function; Liver Failure; hepatitis C infection; childhood idiopathic thrombocytopenic purpura.; systemic lupus erythematosus; Vesico-Ureteral Reflux; Carcinoma|Colorectal Neoplasms; Fractures, Bone|Osteoporosis|Spinal Fractures; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; vesicoureteral reflux; pregnancy loss, recurrent; liver cancer; advanced-stage endometriosis; Biliary Tract Neoplasms|Inflammation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Hypercholesterolemia|LDLC levels; inflammatory bowel disease; Carotid artery stenosis|Carotid Stenosis; diabetes, type 2; osteoporosis; cardiac transplantation; Atopic asthma; bronchodilator response; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Chagas Disease|; Fatty Liver|Liver Cirrhosis|Obesity, Morbid Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. RUNX3 regulates p14-ARF GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA|GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000165;MAPK cascade;IMP|GO:0001570;vasculogenesis;IEA|GO:0001657;ureteric bud development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001775;cell activation;IEA|GO:0001837;epithelial to mesenchymal transition;IDA|GO:0001843;neural tube closure;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002028;regulation of sodium ion transport;IEA|GO:0002062;chondrocyte differentiation;IDA|GO:0002244;hematopoietic progenitor cell differentiation;IDA|GO:0002248;connective tissue replacement involved in inflammatory response wound healing;TAS|GO:0002460;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;IEA|GO:0002513;tolerance induction to self antigen;IEA|GO:0002576;platelet degranulation;TAS|GO:0003179;heart valve morphogenesis;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006611;protein export from nucleus;IDA|GO:0006754;ATP biosynthetic process;IDA|GO:0006796;phosphate-containing compound metabolic process;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0007173;epidermal growth factor receptor signaling pathway;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007182;common-partner SMAD protein phosphorylation;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007435;salivary gland morphogenesis;IEP|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007568;aging;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008354;germ cell migration;IEA|GO:0009314;response to radiation;IEA|GO:0009611;response to wounding;IEP|GO:0009749;response to glucose;IEA|GO:0009817;defense response to fungus, incompatible interaction;IEA|GO:0010033;response to organic substance;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;TAS|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IC|GO:0010718;positive regulation of epithelial to mesenchymal transition;IDA|GO:0010742;macrophage derived foam cell differentiation;IC|GO:0010763;positive regulation of fibroblast migration;IDA|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0010936;negative regulation of macrophage cytokine production;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0016202;regulation of striated muscle tissue development;IEA|GO:0016477;cell migration;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0019049;evasion or tolerance of host defenses by virus;IDA|GO:0021915;neural tube development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030214;hyaluronan catabolic process;IDA|GO:0030217;T cell differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030334;regulation of cell migration;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0030501;positive regulation of bone mineralization;IEP|GO:0030509;BMP signaling pathway;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;TAS|GO:0030879;mammary gland development;IEA|GO:0031065;positive regulation of histone deacetylation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031293;membrane protein intracellular domain proteolysis;IDA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031536;positive regulation of exit from mitosis;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IDA|GO:0032355;response to estradiol;IDA|GO:0032570;response to progesterone;IDA|GO:0032667;regulation of interleukin-23 production;IEA|GO:0032700;negative regulation of interleukin-17 production;IEA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032801;receptor catabolic process;IDA|GO:0032930;positive regulation of superoxide anion generation;IDA|GO:0032943;mononuclear cell proliferation;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033280;response to vitamin D;IEA|GO:0034616;response to laminar fluid shear stress;IEA|GO:0035066;positive regulation of histone acetylation;IEA|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042060;wound healing;IEA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0042307;positive regulation of protein import into nucleus;IDA|GO:0042482;positive regulation of odontogenesis;IEA|GO:0042493;response to drug;IEA|GO:0042552;myelination;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043117;positive regulation of vascular permeability;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IDA|GO:0043932;ossification involved in bone remodeling;IEP|GO:0045066;regulatory T cell differentiation;IEA|GO:0045216;cell-cell junction organization;IDA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0045591;positive regulation of regulatory T cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEP|GO:0045599;negative regulation of fat cell differentiation;IDA|GO:0045662;negative regulation of myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046732;active induction of host immune response by virus;TAS|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IDA|GO:0048468;cell development;IBA|GO:0048535;lymph node development;IEA|GO:0048565;digestive tract development;IEA|GO:0048642;negative regulation of skeletal muscle tissue development;IDA|GO:0048839;inner ear development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050714;positive regulation of protein secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050777;negative regulation of immune response;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0050900;leukocyte migration;TAS|GO:0050921;positive regulation of chemotaxis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051098;regulation of binding;IEA|GO:0051101;regulation of DNA binding;IEA|GO:0051152;positive regulation of smooth muscle cell differentiation;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IC|GO:0060325;face morphogenesis;IEA|GO:0060364;frontal suture morphogenesis;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060390;regulation of SMAD protein import into nucleus;IDA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060395;SMAD protein signal transduction;IBA|GO:0060744;mammary gland branching involved in thelarche;IEA|GO:0060751;branch elongation involved in mammary gland duct branching;IEA|GO:0060762;regulation of branching involved in mammary gland duct morphogenesis;IEA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0061035;regulation of cartilage development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070723;response to cholesterol;IDA|GO:0071158;positive regulation of cell cycle arrest;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071479;cellular response to ionizing radiation;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:0071677;positive regulation of mononuclear cell migration;IEA|GO:0085029;extracellular matrix assembly;IDA|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;IEA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0097421;liver regeneration;IEA|GO:1900126;negative regulation of hyaluronan biosynthetic process;IDA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1901203;positive regulation of extracellular matrix assembly;IC|GO:1901666;positive regulation of NAD+ ADP-ribosyltransferase activity;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903077;negative regulation of protein localization to plasma membrane;IDA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IGI|GO:1903800;positive regulation of production of miRNAs involved in gene silencing by miRNA;IDA|GO:1903911;positive regulation of receptor clustering;IEA|GO:1905313;transforming growth factor beta receptor signaling pathway involved in heart development;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:1990402;embryonic liver development;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000727;positive regulation of cardiac muscle cell differentiation;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0009986;cell surface;IMP|GO:0030141;secretory granule;IEA|GO:0030424;axon;IEA|GO:0031012;extracellular matrix;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043025;neuronal cell body;IEA|GO:0072562;blood microparticle;IDA GO:0001948;glycoprotein binding;IPI|GO:0003823;antigen binding;IPI|GO:0005114;type II transforming growth factor beta receptor binding;IMP|GO:0005125;cytokine activity;TAS|GO:0005160;transforming growth factor beta receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0019899;enzyme binding;IPI|GO:0034713;type I transforming growth factor beta receptor binding;IMP|GO:0034714;type III transforming growth factor beta receptor binding;IMP|GO:0042803;protein homodimerization activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047485;protein N-terminus binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGFB1 https://www.uniprot.org/uniprot/P01137 https://hpo.jax.org/app/browse/search?q=TGFB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190180 http://www.informatics.jax.org/searchtool/Search.do?query=TGFB1&submit=Quick%0D%103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFB1 rs1800469 0.631989 0 0 1 0 0 upstream;downstream intronic intronic TGFB1;B9D2 TMEM91 ENSG00000142046 Na Na Na Na Na Na Het;A>G 79;4|4 Het;A>G 126;1|5 Hom;A>G 163;0|7 N N - 19 41863777 41863777 A C snp intronic B9D2 B9d2 ENSG00000123810 B9 protein domain 2 chr19:41860326-41870078 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] bladder cancer; normal variation; Chronic renal failure|Kidney Failure, Chronic; Albuminuria|Inflammation|Kidney Diseases Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. Mitotic Prometaphase GO:0007062;sister chromatid cohesion;TAS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/B9D2 https://www.uniprot.org/uniprot/Q9BPU9 https://hpo.jax.org/app/browse/search?q=B9D2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611951 http://www.informatics.jax.org/searchtool/Search.do?query=B9D2&submit=Quick%0D%5563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B9D2 rs11668109 0.52476 0.6869 0.6073 1 0 0 intronic intronic intronic B9D2 B9D2,TMEM91 ENSG00000123810,ENSG00000142046 Na Na Na Na Na Na Het;A>C 751;33|33 Het;A>C 843;15|35 Hom;A>C 992;2|37 N N - 19 41869392 41869392 T C snp nonsynonymous SNV A33G I11M aliphatic,hydrophobic,neutral hydrophobic,neutral B9D2 B9d2 ENSG00000123810 B9 protein domain 2 chr19:41860326-41870078 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] bladder cancer; normal variation; Chronic renal failure|Kidney Failure, Chronic; Albuminuria|Inflammation|Kidney Diseases Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. Mitotic Prometaphase GO:0007062;sister chromatid cohesion;TAS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/B9D2 https://www.uniprot.org/uniprot/Q9BPU9 https://hpo.jax.org/app/browse/search?q=B9D2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611951 http://www.informatics.jax.org/searchtool/Search.do?query=B9D2&submit=Quick%0D%5563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B9D2 rs2241714 0.649561 0.7245 0.6550 0.08 1 13 exonic exonic exonic B9D2 B9D2 ENSG00000123810 nonsynonymous SNV nonsynonymous SNV unknown B9D2:NM_030578:exon2:c.A33G:p.I11M, B9D2:uc002oqj.2:exon2:c.A33G:p.I11M, UNKNOWN Het;T>C 1695;103|79 Het;T>C 1514;92|77 Hom;T>C 4808;2|183 N N - 19 41869468 41869468 G C snp intronic B9D2 B9d2 ENSG00000123810 B9 protein domain 2 chr19:41860326-41870078 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] bladder cancer; normal variation; Chronic renal failure|Kidney Failure, Chronic; Albuminuria|Inflammation|Kidney Diseases Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. Mitotic Prometaphase GO:0007062;sister chromatid cohesion;TAS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/B9D2 https://www.uniprot.org/uniprot/Q9BPU9 https://hpo.jax.org/app/browse/search?q=B9D2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611951 http://www.informatics.jax.org/searchtool/Search.do?query=B9D2&submit=Quick%0D%5563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B9D2 rs2241713 0.541733 0.5895 0.5725 1 0 0 intronic intronic intronic B9D2 B9D2,TMEM91 ENSG00000123810,ENSG00000142046 Na Na Na Na Na Na Het;G>C 1068;48|40 Het;G>C 810;51|38 Hom;G>C 2393;0|85 N N - 19 41869487 41869487 C CA indel intronic B9D2 B9d2 ENSG00000123810 B9 protein domain 2 chr19:41860326-41870078 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] bladder cancer; normal variation; Chronic renal failure|Kidney Failure, Chronic; Albuminuria|Inflammation|Kidney Diseases Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. Mitotic Prometaphase GO:0007062;sister chromatid cohesion;TAS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/B9D2 https://www.uniprot.org/uniprot/Q9BPU9 https://hpo.jax.org/app/browse/search?q=B9D2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611951 http://www.informatics.jax.org/searchtool/Search.do?query=B9D2&submit=Quick%0D%5563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B9D2 rs3217387 0.654353 0 0 1 0 0 intronic intronic intronic B9D2 B9D2,TMEM91 ENSG00000123810,ENSG00000142046 Na Na Na Na Na Na Het;+A 977;31|32 Het;+A 737;35|27 Hom;+A 2045;0|58 N N - 19 41869756 41869756 C T snp intronic B9D2 B9d2 ENSG00000123810 B9 protein domain 2 chr19:41860326-41870078 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] bladder cancer; normal variation; Chronic renal failure|Kidney Failure, Chronic; Albuminuria|Inflammation|Kidney Diseases Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. Mitotic Prometaphase GO:0007062;sister chromatid cohesion;TAS|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/B9D2 https://www.uniprot.org/uniprot/Q9BPU9 https://hpo.jax.org/app/browse/search?q=B9D2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611951 http://www.informatics.jax.org/searchtool/Search.do?query=B9D2&submit=Quick%0D%5563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B9D2 rs2241712 0.649361 0 0 1 0 0 intronic intronic intronic B9D2 B9D2,TMEM91 ENSG00000123810,ENSG00000142046 Na Na Na Na Na Na Het;C>T 137;5|6 Het;C>T 129;5|5 Hom;C>T 234;0|7 N N - 19 4199839 4199839 A C snp intronic ANKRD24 Ankrd24 ENSG00000089847 ankyrin repeat domain 24 chr19:4183351-4224811 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24 https://www.uniprot.org/uniprot/Q8TF21 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24 rs6510793 0.539537 0.6356 0.5568 1 0 0 intronic intronic intronic ANKRD24 ANKRD24 ENSG00000089847 Na Na Na Na Na Na Het;A>C 888;30|34 Het;A>C 587;37|27 Hom;A>C 1459;0|52 N N - 19 4212808 4212808 C A snp intronic ANKRD24 Ankrd24 ENSG00000089847 ankyrin repeat domain 24 chr19:4183351-4224811 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24 https://www.uniprot.org/uniprot/Q8TF21 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24 rs58559746 0.409744 0 0 1 0 0 intronic intronic intronic ANKRD24 ANKRD24 ENSG00000089847 Na Na Na Na Na Na Het;C>A 65;6|3 Het;C>A 269;1|9 Hom;C>A 106;0|5 N N - 19 4280207 4280207 G C snp synonymous SNV G147C A49A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SHD Shd ENSG00000105251 Src homology 2 domain containing transforming protein D chr19:4278598-4290721 GO:0007165;signal transduction;IBA|GO:0009967;positive regulation of signal transduction;IEA GO:0005070;SH3/SH2 adaptor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SHD https://www.uniprot.org/uniprot/Q96IW2 https://www.ncbi.nlm.nih.gov/omim/?term=610481 http://www.informatics.jax.org/searchtool/Search.do?query=SHD&submit=Quick%0D%3261ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHD rs56261530 0.0341454 0.0588 0.0676 1 0 0 exonic exonic exonic SHD SHD ENSG00000105251 synonymous SNV synonymous SNV unknown SHD:NM_020209:exon1:c.G147C:p.A49A, SHD:uc002lzw.2:exon1:c.G147C:p.A49A, UNKNOWN Het;G>C 2193;94|98 Het;G>C 1569;68|70 Hom;G>C 4162;0|152 N N - 19 4325115 4325115 G A snp intronic STAP2 Stap2 ENSG00000178078 signal transducing adaptor family member 2 chr19:4324040-4342783 This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Narcolepsy Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level. PTK6 Activates STAT3 GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STAP2 https://www.ncbi.nlm.nih.gov/omim/?term=607881 http://www.informatics.jax.org/searchtool/Search.do?query=STAP2&submit=Quick%0D%14132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAP2 rs2002349 0.46905 0 0 1 0 0 intronic intronic intronic STAP2 STAP2 ENSG00000178078 Na Na Na Na Na Na Het;G>A 73;3|3 Het;G>A 31;3|2 Hom;G>A 208;0|7 N N - 19 44470420 44470420 T C snp nonsynonymous SNV T766C C256R polar,hydrophobic,neutral polar,hydrophilic,charged(+) ZNF221 ENSG00000159905 zinc finger protein 221 chr19:44455375-44471861 GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF221 https://www.uniprot.org/uniprot/A0A087WT08 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF221&submit=Quick%0D%54ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF221 rs439676 0.845048 0.8512 0.9331 0.58 7 12 exonic exonic exonic ZNF221 ZNF221 ENSG00000159905 nonsynonymous SNV nonsynonymous SNV unknown ZNF221:NM_013359:exon6:c.T766C:p.C256R,ZNF221:NM_001297588:exon5:c.T766C:p.C256R,ZNF221:NM_001297589:exon5:c.T766C:p.C256R, ZNF221:uc010ejb.1:exon5:c.T766C:p.C256R,ZNF221:uc010xws.1:exon6:c.T766C:p.C256R,ZNF221:uc002oxx.2:exon6:c.T766C:p.C256R, UNKNOWN Het;T>C 382;14|15 Het;T>C 401;12|16 Hom;T>C 901;0|31 N N - 19 4472460 4472460 G T snp intronic HDGFRP2 Hdgfrp2 rs182316418 0 0 0.4818 1 0 0 intronic intronic intronic HDGFRP2 HDGFRP2 ENSG00000167674 Na Na Na Na Na Na Het;G>T 134;1|6 Ref Hom;G>T 250;0|9 N N - 19 44930880 44930880 G A snp UTR3 *1598C>T ZNF229 ENSG00000278318 zinc finger protein 229 chr19:44921685-44952766 Tuberculosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF229 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229 rs2734453 0.881989 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic ZNF229(NM_014518:c.*1598C>T,NM_001278510:c.*1598C>T) ZNF229(uc002oze.1:c.*1598C>T,uc010ejk.1:c.*1598C>T,uc010ejl.1:c.*1598C>T) ENSG00000267188 Na Na Na Na Na Na Het;G>A 901;55|36 Het;G>A 1201;48|53 Hom;G>A 2289;0|75 N N - 19 44931363 44931363 G A snp UTR3 *1115C>T ZNF229 ENSG00000278318 zinc finger protein 229 chr19:44921685-44952766 Tuberculosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF229 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229 rs12984506 0.780351 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic ZNF229(NM_014518:c.*1115C>T,NM_001278510:c.*1115C>T) ZNF229(uc002oze.1:c.*1115C>T,uc010ejk.1:c.*1115C>T,uc010ejl.1:c.*1115C>T) ENSG00000267188 Na Na Na Na Na Na Het;G>A 254;4|7 Het;G>A 163;8|8 Hom;G>A 444;0|10 N N - 19 45116776 45116776 G A snp upstream IGSF23 Igsf23 ENSG00000216588 immunoglobulin superfamily member 23 chr19:45116940-45140081 This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGSF23 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF23&submit=Quick%0D%18369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF23 rs846898 0.304912 0 0 1 0 0 upstream upstream ncRNA_intronic IGSF23 IGSF23 ENSG00000230666 Na Na Na Na Na Na Het;G>A 66;5|3 Het;G>A 73;2|3 Hom;G>A 330;0|10 N N - 19 45116933 45116933 G A snp upstream IGSF23 Igsf23 ENSG00000216588 immunoglobulin superfamily member 23 chr19:45116940-45140081 This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGSF23 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF23&submit=Quick%0D%18369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF23 rs846897 0.228435 0 0.2845 1 0 0 upstream upstream ncRNA_intronic IGSF23 IGSF23 ENSG00000230666 Na Na Na Na Na Na Het;G>A 1317;58|59 Het;G>A 1699;69|78 Hom;G>A 4469;0|163 N N - 19 45126994 45126994 A G snp intronic IGSF23 Igsf23 ENSG00000216588 immunoglobulin superfamily member 23 chr19:45116940-45140081 This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGSF23 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF23&submit=Quick%0D%18369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF23 rs846857 0.807708 0 0.8157 1 0 0 intronic intronic intronic IGSF23 IGSF23 ENSG00000216588 Na Na Na Na Na Na Het;A>G 407;20|16 Het;A>G 663;11|22 Hom;A>G 850;0|29 N N - 19 45396899 45396899 T C snp intronic TOMM40 Tomm40 ENSG00000130204 translocase of outer mitochondrial membrane 40 chr19:45393826-45406946 The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015] Alzheimer's disease ; Alzheimer Disease; Type 2 Diabetes| edema | rosiglitazone; Triglycerides; Lipoproteins, LDL; Cholesterol, LDL; Amyloid beta-Peptides; Alzheimer's disease; Brain imaging ; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer Disease|Alzheimer's Disease; Cholesterol; Cholesterol, HDL; HDL cholesterol; quantitative traits; triglycerides; Cardiovascular Diseases; LDL cholesterol; Metabolic Syndrome X; C-Reactive Protein; Inflammation; Chronic renal failure|Kidney Failure, Chronic; breast cancer; Cholesterol, total Pink/Parkin Mediated Mitophagy GO:0006626;protein targeting to mitochondrion;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0055085;transmembrane transport;IEA GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031307;integral component of mitochondrial outer membrane;ISS|GO:0046930;pore complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008320;protein transmembrane transporter activity;ISS|GO:0015266;protein channel activity;IBA|GO:0015288;porin activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOMM40 https://www.uniprot.org/uniprot/O96008 https://hpo.jax.org/app/browse/search?q=TOMM40&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608061 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM40&submit=Quick%0D%6332ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM40 rs157584 0.560703 0 0 1 0 0 intronic intronic intronic TOMM40 TOMM40 ENSG00000130204 Na Na Na Na Na Na Het;T>C 132;10|6 Het;T>C 259;7|10 Hom;T>C 349;0|10 N N - 19 45404691 45404691 A G snp UTR3 *80A>G TOMM40 Tomm40 ENSG00000130204 translocase of outer mitochondrial membrane 40 chr19:45393826-45406946 The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015] Alzheimer's disease ; Alzheimer Disease; Type 2 Diabetes| edema | rosiglitazone; Triglycerides; Lipoproteins, LDL; Cholesterol, LDL; Amyloid beta-Peptides; Alzheimer's disease; Brain imaging ; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer Disease|Alzheimer's Disease; Cholesterol; Cholesterol, HDL; HDL cholesterol; quantitative traits; triglycerides; Cardiovascular Diseases; LDL cholesterol; Metabolic Syndrome X; C-Reactive Protein; Inflammation; Chronic renal failure|Kidney Failure, Chronic; breast cancer; Cholesterol, total Pink/Parkin Mediated Mitophagy GO:0006626;protein targeting to mitochondrion;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0055085;transmembrane transport;IEA GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031307;integral component of mitochondrial outer membrane;ISS|GO:0046930;pore complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008320;protein transmembrane transporter activity;ISS|GO:0015266;protein channel activity;IBA|GO:0015288;porin activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOMM40 https://www.uniprot.org/uniprot/O96008 https://hpo.jax.org/app/browse/search?q=TOMM40&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608061 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM40&submit=Quick%0D%6332ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM40 rs405697 0.69389 0 0 1 0 0 intronic UTR3 UTR3 TOMM40 TOMM40(uc002ozz.3:c.*80A>G) ENSG00000130204(ENST00000592434:c.*80A>G,ENST00000592041:c.*80A>G) Na Na Na Na Na Na Het;A>G 384;4|14 Het;A>G 98;14|7 Hom;A>G 850;0|31 N N - 19 45408836 45408836 T G snp upstream APOE Apoe ENSG00000130203 apolipoprotein E chr19:45409011-45412650 The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016] diastolic blood pressure; glioblastoma; fluvastatin induced cholesterol changes; cognitive ability | hypertension; Spinal Cord Injuries; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Bone Mineral Density; Acute Coronary Syndrome|Inflammation; CADASIL|Chromosome Aberrations|Chromosome abnormality; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders|Tooth Loss; Brain Ischemia|Diabetes mellitus|Hemiplegia|Hypercholesterolemia|Hypertension|Obesity; Chronic renal failure|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glomerulonephritis|Kidney Failure, Chronic|Polycystic Kidney, Autosomal Dominant; Exfoliation Syndrome; restenosis; multiple sclerosis; subarachnoid hemorrhage; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; brain hemorrhage; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Brain Ischemia|Stroke; Congenital Heart Defects|Heart Defects, Congenital|Nervous System Diseases; Epilepsy, Temporal Lobe|Sclerosis; Alzheimer Disease|Alzheimer's Disease|Metabolic Diseases; Anemia, Iron-Deficiency|Iron deficiency anaemia; breast cancer; Alzheimer Disease|Amnesia|Atrophy|; elite runners; Memory Disorders; Amyloid Neuropathies, Familial; Hypercholesterolemia|LDLC levels; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Heart Diseases|Ventricular Dysfunction, Left; Alzheimer Disease|Alzheimer's Disease|Amnesia; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease|Hypercholesterolemia; Brain Ischemia|Intracranial Arteriosclerosis; Brain Ischemia|Carotid Artery Diseases|Stroke; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases|Vitamin B 12 Deficiency; Coronary Disease|Coronary heart disease|Inflammation; Down syndrome; premature coronary heart disease.; Cerebral Palsy; cardiovascular disease cholesterol, LDL diabetes, type 2 triglycerides; Brain Concussion|Brain Injuries|Unconsciousness; Cardiovascular Diseases|Obesity|Virilism; Cerebrovascular Disorders; Lipid levels|depression; Exfoliation Syndrome|Glaucoma, Open-Angle; Arteriovenous Malformations|Congenital arteriovenous malformation|Intracranial Hemorrhages; Cerebral Hemorrhage|Cerebral Hemorrhages; AIDS Dementia Complex|AIDS Related Dementia Complex; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Plasma Lipid Levels; diabetes, type 2; lipoprotein; Vertebral Artery Dissection; Confusion|Confusion (Mental)|Dementia|Disease Progression; Critical Illness|Delirium; Alzheimer Disease|Alzheimer's Disease|Encephalitis, Herpes Simplex|Herpes encephalitis; Adenoma|Colorectal Neoplasms; arterial wall thickness; Aphasia, Primary Progressive|Dementia; depressive symptoms; Alzheimer Disease|Alzheimer's Disease|Arteriosclerosis; Cardiovascular Diseases|Psychomotor Disorders; Sepsis|Systemic infection; Hepatitis C, Chronic|Liver Cirrhosis; Creutzfeldt-Jakob disease; endogenous hypertriglyceridemia and familial hypercholesterolemia; colorectal cancer; atherosclerotic disease; cholesterol, HDL; triglycerides; cholesterol, total; lung cancer ; Dementia; Obesity|Osteoporosis, Postmenopausal; Cerebral Hemorrhage|Cerebral Hemorrhages|Hypertension; Alzheimer Disease|Alzheimer's Disease|Disorders; Head and Neck Neoplasms; Apoplexy|Cardiovascular Diseases|Ischemia|Stroke|Vascular Diseases; Breast Neoplasms|Lymphoma|Mammary Neoplasms; Fetal Diseases|Hypoxia-Ischemia, Brain|Infant, Newborn, Diseases; Brain Ischemia|Subarachnoid Hemorrhage; Alzheimer Disease|Cadaver; Learning Disorders; lipid profiles; Postoperative Complications; Amyotrophic Lateral Sclerosis|Craniocerebral Trauma|Injuries, Craniocerebral; Disease Progression; Coronary Stenosis|Hypertension; Cleft Lip|Cleft Palate; Osteoporosis, Postmenopausal; Cerebrovascular Disorders|Dementia; Spinal Cord Compression|Spinal Osteophytosis; Down Syndrome; Atherosclerosis|Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Hypertriglyceridemia; Epilepsy, Complex Partial; myocardial infarct; Brain Infarction|Cerebral Amyloid Angiopathy|Dementia|Diabetes Mellitus|Hyperinsulinism; Amyotrophic Lateral Sclerosis|; Kidney Failure; Hyperlipidemias; Epilepsy, Temporal Lobe|; left ventricular function; Rett Syndrome; Body Weight|Congenital Heart Defects|Growth Disorders|Heart Defects, Congenital; Diabetes mellitus|Kidney Diseases; Depression; Alcoholism|Hyperhomocysteinemia; Hyperlipidemias|Nephrotic Syndrome; Delirium|Postoperative Complications; Brain Ischemia|Carotid Stenosis; Alcoholism|Substance Withdrawal Syndrome; earlier age at onset in amyotrophic lateral sclerosis.; memory disturbance; insulin; lipoproteins; C-peptide; proinsulin; Diabetes Mellitus, Type 2|Uremia; acenocoumarol and phenprocoumon; Macular Degeneration; Confusion|Epilepsy, Temporal Lobe; Cardiovascular Diseases; Coronary Restenosis|Coronary Stenosis; Biliary Tract Neoplasms|Gallstones; Brain Injuries|Inflammation|Postoperative Complications; Cholelithiasis|Recurrence; Coronary Disease|Coronary heart disease|Hyperlipidemias; Cerebral Infarction|Intracranial Arteriosclerosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Parkinson Disease; dementia in other conditions; dementia but not cardiovascular mortality; Alzheimer Disease|Dementia|Memory Disorders; plasma HDL cholesterol (HDL-C) levels; Acute Coronary Syndrome; Geographic Atrophy|Macular Degeneration; Alzheimer Disease|Alzheimer's Disease|Dementia; Nephrotic Syndrome; Body Weight|Insulin Resistance|Syndrome; Amnesia|Brain Injuries; blood pressure, arterial; stroke, ischemic; atherosclerosis; Cardiovascular Diseases|Polycystic Ovary Syndrome; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; major depressive disorder; Alzheimer Disease|Memory Disorders; Multiple Sclerosis, Relapsing-Remitting; Diabetes Complications|; HIV Seropositivity; Alzheimer Disease|Down Syndrome; Alzheimer Disease|Dementia|Dementia, Vascular|Lewy Body Disease|Pick Disease of the Brain; Brain Ischemia|Subarachnoid Hemorrhage|Vasospasm, Intracranial; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; HIV Infections|[X]Human immunodeficiency virus disease; Anoxia|Brain Injuries|Hypotension; myocardial infarction; cardiovascular disease; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Myocardial Ischemia|Nervous System Diseases|Postoperative Complications|Stroke; Smith-Lemli-Opitz syndrome; Myocardial Infarction; Cardiovascular Diseases|Hyperlipidemias; Memory Disorders|Sleep Apnea Syndromes; lipids; glucose; atherosclerosis; menopause; carotid atherosclerosis; triglycerides; insulin; lipoproteins; apoB; apoC-III; lipoprotein; lipids; cholesterol; cholesterol, HDL; lipoprotein; lipids; Coronary Disease|Hypercholesterolemia; Alzheimer Disease|Down Syndrome|; Brain Injuries|Dementia, Vascular|; LDL cholesterol; Renal Insufficiency, Chronic; Choroid Diseases|Macular Degeneration; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Hypercholesterolemia; Cerebral Hemorrhage|Recurrence|Stroke; Alzheimer Disease|Alzheimer's Disease|Dementia|Diabetes mellitus|Hypercholesterolemia|Metabolic Syndrome X; Aphasia|Aphasia, NOS|Apoplexy|Brain Ischemia|Stroke; Body Weight|Obesity; Cardiovascular Diseases|Inflammation; lipoprotein, LDL; lipids; preeclampsia; apolipoproteins; plasma lipid levels; Herpes Labialis; gallstones; Alzheimer Disease|Dementia|Dementia, Vascular|Lipid Metabolism Disorders|Neurodegenerative Diseases; Calcinosis|Carotid Artery Diseases; Hypertension; Atrial Fibrillation|Postoperative Complications; Atrophy|Dementia; Hyperlipidemias|Yin Deficiency; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Down Syndrome|Hepatitis B|Hypothyroidism; HIV Infections|Hyperlipidemias|[X]Human immunodeficiency virus disease; coronary heart disease and plasma lipid levels.; aneurysmal subarachnoid hemorrhage; Alzheimer's disease ; Hyperlipidemias|Hypertension; Hypercholesterolemia; Abortion, Spontaneous|Thrombosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hypercholesterolemia; Carotid Artery Diseases|Hypertension; Biliary calculi|Cholelithiasis|Gallstones; Encephalitis, Herpes Simplex|Herpes encephalitis; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy|Cerebral Infarction|Vascular Diseases; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy|Genetic Predisposition to Disease; Diabetic Neuropathies|Peripheral Nervous System Diseases|Sensation Disorders; Prion Diseases; diabetes, type 1; subjective quality of life; cardiovascular; general cognitive ability; Bone Resorption|Vitamin K Deficiency; Cerebral Hemorrhage|; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; bladder cancer; psoriasis; Brain Injuries|; Familial type 3 hyperlipoproteinaemia|Hyperlipoproteinemia Type III; Hyperlipoproteinemias; Malaria, Falciparum; Alzheimer Disease|Alzheimer's Disease|Hallucinations; Amyotrophic Lateral Sclerosis; dementia, vascular; Acute Coronary Syndrome|; cardiovascular risk; Perioperative genomic profiles ; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Insulin Resistance; Alzheimer Disease|Alzheimer's Disease|Mercury Poisoning, Nervous System; Dementia|Down Syndrome; Kidney Failure, Acute|Postoperative Complications; Apoplexy|Carotid Artery Thrombosis|Intracranial Arteriosclerosis|Stroke; Angina pectoris|Angina, Unstable|Myocardial Infarction|Unstable angina; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Lead Poisoning|Prenatal Exposure Delayed Effects; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular; Chronic Kidney Insufficiency|Renal Insufficiency, Chronic; non-demented leprosy patients; oxidized LDL; lipids; chronic obstructive pulmonary disease; working memory; Carotid Artery Diseases|Vascular Diseases; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Apoplexy|Hypoxia-Ischemia, Brain|Stroke; Alzheimer Disease|Alzheimer's Disease|Olfaction Disorders; Brain Concussion; Alzheimer's disease; Lewy body disease; null; Brain Edema|Brain Injuries|Cerebral Hemorrhage, Traumatic|Skull Fractures|Traumatic cerebral hemorrhage; Alzheimer Disease|Coronary Artery Disease|Hyperlipidemias; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases; C-Reactive Protein; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; multiple sclerosis.; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; attention brain white matter; Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Hypertension|Intracranial Arteriosclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Cardiovascular Diseases|Intracranial Hemorrhages|Stroke; Type 2 diabetes; Coronary Artery Disease|Plaque, Atherosclerotic; Hepatitis B; Alzheimer Disease|Alzheimer's Disease|Delirium|Recurrence; diabetic nephropathy; atherosclerosis, coronary; longevity; cholesterol; Brain Injuries|Hypopituitarism; Heart Defects, Congenital; HDL cholesterol; Hypertriglyceridemia|Psoriasis; familial combined hyperlipidemia; Cross Infection|Paramyxoviridae Infections; Hypertriglyceridemia|Pancreatitis; Fredrickson hyperlipoproteinemia; Paralysis|Sensation Disorders|Spinal Cord Injuries; Cardiovascular Diseases|Chronic renal failure|Kidney Failure, Chronic; Brain Infarction; Alzheimer Disease|Alzheimer's Disease|Memory Disorders; Hyperlipoproteinemia Type IV; Cerebral Hemorrhage|Cerebral Hemorrhages|Memory Disorders; Apoplexy|Stroke; Retinal Diseases; Fam hyperbetalipoproteinaemia|Hyperlipidemia, Familial Combined|Hyperlipoproteinemia Type II|Hypertriglyceridemia|Mixed hyperlipidemia; memory impairment; coronary heart disease; hypertension; mental illness; Apoplexy|Brain Ischemia|Stroke; Cerebral Amyloid Angiopathy; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Apoplexy|Brain Ischemia|Infarction, Middle Cerebral Artery|Stroke; cholesterol; coronary heart disease; lipoproteins; alcohol abuse; Alzheimer's disease; triglycerides; atherosclerosis, coronary; schizophrenia; Inflammation|Myocardial Infarction; Cerebral Infarction|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Ischemia|Stroke|Subarachnoid Hemorrhage; macular degeneration; Alzheimer's disease; Parkinson's disease; high-monounsaturated fatty acid diet; cholesterol, HDL; cholesterol, LDL; cholesterol, total; apoA1; apoE; apoB-100; Alzheimer Disease|; AIDS-Related Opportunistic Infections|Herpes Genitalis; Craniocerebral Trauma; Brain Damage, Chronic|Hypertension|Myocardial Ischemia|Stroke; Biliary calculi|Cholecystolithiasis|Gallstones|Lipid Metabolism Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Aortic Valve Stenosis|Calcinosis; Apoplexy|Brain Ischemia|Carotid artery stenosis|Carotid Stenosis|Infarction, Middle Cerebral Artery|Stroke; Mouth, Edentulous|Tooth Loss; triglycerides; cholesterol, total; apoA1; apoB; apoE; Familial dysbetalipoproteinemia; hypertension, pregnancy induced preeclampsia; Glomerulonephritis, IGA; body mass cholesterol cholesterol, LDL glucose insulin lipids; Recurrence|Venous Thromboembolism; Carotid Artery Diseases|Diabetes mellitus|Hypercholesterolemia; Bone Diseases, Metabolic|Osteoporosis; cerebrovascular disease; amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; sleep-disordered breathing; Multiple Sclerosis; Aphasia|Brain Ischemia|Cardiovascular Diseases|Cerebral Hemorrhage|Stroke; Coronary Artery Disease|Lupus Erythematosus, Systemic; Dementia|Memory Disorders|Stroke; Alzheimer Disease|Atrophy|Disease Progression; Cholelithiasis|Obesity, Morbid|Postoperative Complications; lipids; left ventricular mass; aortic gradient; aortic valve stenosis; bile lipid composition and cholesterol gallstone; Alzheimers disease; breast cancer ; multidimensional impairment; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Subarachnoid Hemorrhage|Vasospasm, Intracranial; cervical dystonia; genital herpes|Herpes Genitalis|Stomatitis, Herpetic; Hepatitis C|Remission, Spontaneous; Dystonic Disorders; outcome after head injury; thrombophilia and vascular disease; Alzheimer's disease vascular dementia; SNP allelic association; Kidney Failure, Chronic; Myocardial Ischemia; myocardial infarction | metabolic syndrome; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome; Candidiasis, Cutaneous|Cutaneous Candidiasis|Tinea Versicolor; Brain Injuries|Nerve Degeneration; Exophthalmos; Diabetes mellitus type II|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypoglycemia; Angina pectoris|Hyperlipidemias|Myocardial Infarction; Learning Disorders|Multiple Sclerosis; dementia; blood lipids and maximal oxygen uptake; Brain aging; holoprosencephaly; Carotid Artery Diseases; human fertility; Cataract|Macular Degeneration; Hypotension; Cardiovascular Diseases|Fatty Liver|Hyperlipidemias|Hypertriglyceridemia|Inflammation; Lupus Vasculitis, Central Nervous System; Body Weight|Coronary Disease; Coronary Disease|Coronary heart disease|Myocardial Infarction; Biliary calculi|Gallstones; lipid metabolism disorders; hyperlipidemia; depression; preeclampsia; pregnancy-induced chylomicronemia; Macular Degeneration|Vision, Low; recurrent pregnancy loss; Central Nervous System Diseases; Fetal Growth Retardation|Intrauterine growth retardation; Diabetes Complications|Ischemic Attack, Transient|Obesity|Transient Ischemic Attack; Alzheimer Disease|Disease Progression; bone density; synaptogenesis and memory.; persistent vegetative state; cerebrovascular disease; sickle cell anemia; Alzheimer's disease; dementia, vascular; Migraine Disorders|Tension-Type Headache; Alzheimer Disease|Atrophy|Dementia|Memory Disorders; Lymphoma, Non-Hodgkin; Coronary Disease|Obesity; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; Hyperlipidemias|Myocardial Infarction; Alzheimer Disease|Alzheimer's Disease|Disease Progression; lung cancer; Apoplexy|Dementia|Myocardial Infarction|Stroke; Hypercholesterolemia|Myocardial Infarction; beta Thalassemia|beta-Thalassemia|Ventricular Dysfunction, Left; gout; cardiovascular disease risk; memory performance; warfarin sensitivity; metabolic syndrome; pregnancy loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Fatty Liver; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Diarrhea, Infantile; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Nerve Degeneration; Coronary Artery Disease|Hyperlipidemias; Cerebral Hemorrhage|Cerebral Hemorrhages|Hemorrhage|Hypertension; pregnancy loss, recurrent; atherosclerosis, coronary; cerebral infarct, atherothrombotic; cholesterol, LDL; personality traits; Ketosis; Alzheimer's disease cognitive function; patent ductus arteriosus; Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Arteriosclerosis|Brain Ischemia|Recurrence; Cerebral Amyloid Angiopathy|Plaque, Amyloid; Albuminuria|Inflammation|Kidney Diseases; Alzheimer Disease|Alzheimer's Disease|Atrophy|Dementia|Memory Disorders; Cellulitis|Obesity; Alcohol Amnestic Disorder|Alcoholism|Alzheimer Disease|Alzheimer's Disease; Apoplexy|Brain Ischemia|Hypertension|Stroke; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; cognitive decline; Fractures, Bone|Osteoporosis; cholesterol, HDL; cholesterol, LDL; apoA1; apoB; frontotemporal dementia; cholesterol, HDL triglycerides; Dyslipidemias|Nephrotic Syndrome; Cardiovascular Diseases|; Atherosclerosis|Cerebrovascular Disorders|Myocardial Ischemia; Wilsons disease; sleep disorders; Alzheimer Disease|Lewy Body Disease; Hyperlipoproteinemia Type III|Hypertriglyceridemia; Brain imaging ; Alzheimer Disease|Alzheimer's Disease|Dementia, Vascular; Pre-Eclampsia; Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Abortion, Habitual|Venous Thrombosis; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebrovascular Disorders|Hypertension; Dementia, Vascular; familial age-related macular degeneration.; ischemia; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; fetal loss, late; bone mineral density; cognitive function executive function memory disturbance; Dementia|Diseases in Twins; Thrombosis; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Alzheimer Disease|Alzheimer's Disease|Amyloidosis; Cerebral Hemorrhage|Cerebral Hemorrhages|Dementia, Vascular; high coronary heart disease risk particularly affects ser; cerebral amyloid angiopathy; senile plaques; progressive supranuclear palsy; nephropathy, diabetic; altered brain levels of apolipoprotein E; HDL Cholesterol; cholesterol, HDL cholesterol, LDL; Epilepsy|Seizures, Febrile; Alzheimer Disease|Alzheimer's Disease|Cerebrovascular Disorders; Alzheimer Disease|Alzheimer's Disease|Cerebrovascular Disorders|Dementia, Vascular; Cardiovascular Diseases|Hyperlipidemias|Hypertension|Obesity|Sleep Apnea, Obstructive; familial and sporadic frontotemporal dementia; HIV Infections; Neoplasms; Brain Injuries|Memory Disorders; Coronary Disease|Coronary heart disease|Hypertriglyceridemia|Pregnancy Complications|Weight Gain; Cardiovascular Diseases|Dementia; Sudden Infant Death; Akathisia, Drug-Induced; abnormal lipid profile; cognitive function; Chlamydophila Infections|Coronary Disease; aging; Delirium; left-handedness and visuospatial skills; Alzheimer Disease|Cardiovascular Diseases|Colorectal Neoplasms|Macular Degeneration; Arteriosclerosis; Alzheimer Disease|Alzheimer's Disease|Disorders of Excessive Somnolence|Memory Disorders; Arteriosclerosis|Cardiovascular Diseases; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alzheimer Disease|Alzheimer's Disease|Drug Toxicity|Edema|Nasopharyngitis; Cardiovascular Diseases|Macular Degeneration; Triglycerides; Lipid Metabolism; cognitive impairment; aneurysmal subarachnoid hemorrhage.; diabetes, type 2; Alzheimer Disease|Atrophy|; Hypertension|Myocardial ischemia; Cholesterol, total; Alzheimer Disease|Alzheimer's Disease|Glaucoma, Open-Angle; Neurodegenerative Diseases; ischaemic stroke; Alzheimer's Disease; age-related macular degeneration; nephropathy in other diseases; Atherosclerosis|Cerebral Infarction|Stroke; Brain Injuries|Intracranial Hypertension; mood disorders; Hypertension/complications*; Diabetes Mellitus|Hypertension|Stroke; heart disease; C-reactive protein; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Alzheimer Disease|Alzheimer's Disease|Down Syndrome|Olfaction Disorders; Craniocerebral Trauma|Injuries, Craniocerebral; Behcet Syndrome; Apoplexy|Brain Ischemia|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; Brain Injuries|Fatigue|Sleep Disorders; longevity; lipid metabolism; Alzheimer's disease - Galantamine response; hyperlipidemia; lipoprotein glomerulopathy; Alzheimer Disease|Aphasia|Atrophy|Syndrome; Inflammation|Memory Disorders; Atrophy|Brain Diseases; Myocardial ischemia; Coronary Disease|Coronary heart disease|Postoperative Complications; Metabolic Syndrome X; Age-associated memory impairment (AAMI); Lipids; Alzheimer's disease; NEUROLOGICALenerative disease; preeclamptic pregnancies; Coronary Disease; Hypertension|Stroke; AIDS Dementia Complex|HIV Infections; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Coronary Disease|Coronary heart disease|Hypertriglyceridemia; Hyperlipidemias|Obesity; Diseases in Twins|Obstetric Labor, Premature; Cytomegalovirus Infections|Herpes Simplex|Herpes Simplex Infections; cholesterol; apoA-IV; apoE; triacylglycerols; Alzheimer's disease; mild dyslipidemia; stroke; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; Alzheimer Disease|Olfaction Disorders; quantitative traits; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebral Infarction; Hypertriglyceridemia|Liver Cirrhosis, Alcoholic; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Dementia, Vascular|Vascular Diseases; Apoplexy|Memory Disorders|Stroke; Coronary Artery Disease|Hypertension; Carbon Monoxide Poisoning; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Alzheimer's disease; vascular dementia; Atherosclerosis; Myasthenia Gravis; HIV; Epilepsy, Temporal Lobe|Memory Disorders; Hepatitis C, Chronic|Liver Cirrhosis|Recurrence; Genetic Diseases, Inborn|Syndrome|Tetralogy of Fallot; obesity; hypercholesterolemia; Parkinson's disease; dementia; hallucinations; Diabetes Mellitus, Type 2|Diabetic Nephropathies; Colitis, Ulcerative; Dystonia|Psychomotor Disorders|Syndrome; Alzheimer's disease (late onset); Dementia|Disease Progression; Brain Concussion|Brain Injuries|Brain Ischemia; Migraine Disorders|Migraine with Aura|Migraine without Aura|Tension-Type Headache; Myositis, Inclusion Body; Alzheimer's disease|Type 2 diabetes; C-reactive protein cholesterol, LDL lipoprotein; Guillain-Barre syndrome; Traumatic Brain Imjury; Alzheimer Disease|Psychomotor Agitation; normal variation; Brain Injuries; Obesity; Atrophy; Athletic Injuries|Brain Concussion|; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hyperlipidemias; coronary artery disease; traumatic brain injury.; Parkinson's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; Spinal Cord Diseases|Spondylosis; warfarin response; Psychomotor Agitation; Amnesia|Memory Disorders; Coronary Disease|Hyperlipidemias; Brain Injuries|Closed head injuries|Head Injuries, Closed; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; Brain Ischemia|Hemorrhage; Alzheimer Disease|Dementia; Cholesterol, LDL; cholelithiasis; Severe Malaria; cholesterol, HDL; cholesterol, LDL; lathosterol; cognitive ability; early onset ischemic heart disease.; Nerve Degeneration; Brain Edema|Cerebral Hemorrhage|; Cardiovascular Diseases|Obesity; Birth Weight; Confusion|Epilepsy, Temporal Lobe|Sclerosis|Seizures; Birth Weight|Congenital Abnormalities|Heart Defects, Congenital|Postoperative Complications|Syndrome; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Alzheimer Disease|Alzheimer's Disease|Atrophy; Heart Arrest; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure|kidney; failure; Fetal Nutrition Disorders|Hypercholesterolemia; Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Cerebral Hemorrhages; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular|Lewy Body Disease|Neurodegenerative Diseases; Brain Injuries|Dementia; diabetes, type 2; diabetic nephropathy; atherosclerosis, coronary; lipoprotein; Hyperhomocysteinemia|Lewy Body Disease|Psychomotor Disorders; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Heart Diseases|Hypercholesterolemia|Hypertension; Anticipation, Genetic|Myocardial Ischemia; Cardiovascular Diseases|Lupus Erythematosus, Systemic; Epilepsy, Temporal Lobe; Coronary Disease|Coronary heart disease|Familial type 3 hyperlipoproteinaemia|Hyperinsulinism|Hyperlipoproteinemia Type III|Peripheral Vascular Diseases; Dementia|Disease Susceptibility; Coronary Restenosis|Myocardial Infarction|Thrombosis; heart disease, ischemic; Ischaemic Stroke; diabetes, type 1; carotid atherosclerosis; Encephalitis; Fatty Liver|Hepatitis; Glaucoma, Open-Angle; cognitive performance; Dementia|Hyperhomocysteinemia|Vascular Diseases; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; prostate cancer; Xanthomatosis; Gallbladder Diseases; apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]; chronic obstructive pulmonary disease/COPD; neuropathy, Alzheimer's disease related; sporadic inclusion body myositis; hypertriglyceridemia; memory decline; Lead Poisoning, Nervous System, Adult; obstructive sleep apnea; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular; Perceptual Disorders; Carotid artery stenosis|Carotid Stenosis; Sleep Apnea, Obstructive; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Memory Disorders|Neurodegenerative Diseases; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Myocardial Infarction|Shock, Cardiogenic; Hepatitis C, Chronic; Alcohol Amnestic Disorder|Alcohol-Related Disorders|Alcoholism|Substance Withdrawal Syndrome; triglycerides; life expectancy; hepatitis C; cholesterol, HDL; cholesterol, LDL; cholesterol, total; frontotemporal lobar degeneration; cardiovascular disease; periodontal disease; Alzheimer Disease; Lewy Body Disease; Coronary Disease|Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Alzheimer Disease|Alzheimer's Disease; Heart Diseases; Hyperhomocysteinemia|Hyperlipidemias; Plaque, Amyloid; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; autism; hypercholesterolemia; cholesterol, LDL; Dementia|Olfaction Disorders; Atrophy|Multiple Sclerosis, Relapsing-Remitting; Leukemia, Lymphocytic, Chronic, B-Cell; plasma lipoprotein traits; Coronary Disease|Coronary heart disease; Atrial Fibrillation|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Neuropathies; exfoliation syndrome; Alzheimer's disease apolipoprotein E levels; Coronary Artery Disease|; memory function; Insulin Resistance|Obesity; Brain Ischemia|Cerebral Infarction|Intracranial Aneurysm|Subarachnoid Hemorrhage; Alzheimer Disease|Dementia|Hypothyroidism|Memory Disorders; Coronary Stenosis|Hypertrophy, Left Ventricular|Sclerosis; Schizophrenia; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular|Neurodegenerative Diseases; Spina Bifida Cystica; Brain Ischemia|Dementia; Angina pectoris; Body Weight; Colonic Neoplasms|Colorectal Neoplasms|Rectal Neoplasms; Cardiovascular Diseases|Dementia|Diabetes mellitus|Hypercholesterolemia|Pancreatitis; Dyslipidemias|Metabolic Syndrome X|Obesity; increased wall thickness of carotid and femoral arteries; Diabetes Mellitus, Type 2; Dementia|Memory Disorders; Autism; Apoplexy|Myocardial Infarction|Myocardial ischemia|Stroke; Apoplexy|Myocardial ischemia|Stroke; Cholelithiasis; Down Syndrome|Trisomy; Dementia|Hyperlipidemias; Hypertriglyceridemia|Pre-Eclampsia; retinopathy, diabetic; glaucoma; early onset temporal lobe epilepsy.; Cardiovascular Diseases|Diabetes Mellitus, Type 2|Hypercholesterolemia|Hyperlipidemias|Hypertension|Obesity; Sjogren's Syndrome; Severe type III hyperlipoproteinemia; episodic memory; Hypertension|Pregnancy Complications, Cardiovascular; Epilepsy, Post-Traumatic|Seizures; Alzheimer Disease|Alzheimer's Disease|Myocardial ischemia; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders; Brain Injuries|Seizures; Cerebral Infarction; differential expansion rates of small abdominal aortic aneurysms; glaucoma, primary open-angle; anti-atherogenic lipoprotein profile; attention deficit disorder conduct disorder oppositional defiant disorder; Selenium; Colonic Neoplasms|Microsatellite Instability; Herpesviridae Infections; mild cognitive impairment; Apoplexy|Atherosclerosis|Cerebral Infarction|Stroke; Congenital Heart Defects|Heart Defects, Congenital; Coronary Disease|Coronary heart disease|Dyslipidemias; Hyperlipidemia, Familial Combined|Mixed hyperlipidemia; Aortic Valve Stenosis|Calcinosis|Diabetes mellitus|Hyperlipidemias|Hypertension|Mitral Valve Stenosis; lipoprotein distribution of ApoC-I; spinal muscular atrophy; cerebral amyloid angiopathy; lipoprotein; type III hyperlipoproteinemia; Dementia|; Subarachnoid Hemorrhage; Alzheimer Disease|Atrophy; Angina pectoris|Coronary Disease|Coronary heart disease|Myocardial Infarction; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperlipidemias; Apoplexy|Brain Ischemia|Cerebral Hemorrhage|Cerebral Hemorrhages|Stroke; Kidney Failure|kidney; failure; Alcohol Withdrawal Seizures|Alcoholism|Recurrence; Atherosclerosis|Chronic renal failure|Kidney Failure, Chronic; Hypertriglyceridemia|Metabolic Syndrome X; bulbar-onset motor neuron disease; angiographic coronary artery disease; Parkinson's disease; Alzheimer`s Disease; Hypertriglyceridemia|Pancreatitis|Recurrence; rapid motor decline; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; Metabolic Syndrome X|Obesity, Abdominal; Alzheimer Disease|Alzheimer's Disease|Brain Infarction|Cerebrovascular Disorders; dominant type III hyperlipoproteinemia; Stroke; lipid levels; Coronary Artery Disease; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases|Chronic Disease; Diarrhea; Athletic Injuries|Brain Concussion; Amyloidosis|Arthritis, Rheumatoid|Rheumatoid Arthritis; Alcoholism; Chronic progressive chorea|Huntington Disease; anticholinergic challenge-induced memory impairment; serum lipids; posterior cortical atrophy; smoking; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; Temporal Lobe Epilepsy; Alzheimer`s disease; Hypertriglyceridemia; Alzheimer Disease|Cerebrovascular Disorders|; inflammatory bowel disease; Aneurysm, Ruptured|Intracranial Aneurysm|Recurrence|Subarachnoid Hemorrhage; Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Acquired Immunodeficiency Syndrome|Kaposi Sarcoma|Lymphoma, AIDS-Related|Sarcoma, Kaposi; Dyslipidemias Mutations at this locus cause diet-induced hypercholesterolemia and atherosclerosis. Homozygous null mutants also develop foam-cell rich deposits in proximal aorta, impaired blood-nerve and blood-brain barriers, and many xanthomatous lesions. Retinoid metabolism and transport GO:0000302;response to reactive oxygen species;NAS|GO:0001523;retinoid metabolic process;TAS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002021;response to dietary excess;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IDA|GO:0006707;cholesterol catabolic process;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007271;synaptic transmission, cholinergic;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010544;negative regulation of platelet activation;IDA|GO:0010873;positive regulation of cholesterol esterification;IDA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0010877;lipid transport involved in lipid storage;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0015909;long-chain fatty acid transport;IDA|GO:0017038;protein import;IDA|GO:0019068;virion assembly;IMP|GO:0019433;triglyceride catabolic process;IBA|GO:0019934;cGMP-mediated signaling;IDA|GO:0030195;negative regulation of blood coagulation;IDA|GO:0030516;regulation of axon extension;TAS|GO:0030828;positive regulation of cGMP biosynthetic process;IDA|GO:0031102;neuron projection regeneration;IBA|GO:0032269;negative regulation of cellular protein metabolic process;IGI|GO:0032489;regulation of Cdc42 protein signal transduction;IDA|GO:0032805;positive regulation of low-density lipoprotein particle receptor catabolic process;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034374;low-density lipoprotein particle remodeling;IEA|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0034378;chylomicron assembly;TAS|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034382;chylomicron remnant clearance;TAS|GO:0034384;high-density lipoprotein particle clearance;IDA|GO:0034447;very-low-density lipoprotein particle clearance;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042159;lipoprotein catabolic process;IBA|GO:0042311;vasodilation;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0042982;amyloid precursor protein metabolic process;IDA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043687;post-translational protein modification;TAS|GO:0043691;reverse cholesterol transport;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0044794;positive regulation by host of viral process;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IDA|GO:0045807;positive regulation of endocytosis;IDA|GO:0046889;positive regulation of lipid biosynthetic process;IDA|GO:0046907;intracellular transport;TAS|GO:0048168;regulation of neuronal synaptic plasticity;TAS|GO:0048844;artery morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;IC|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051651;maintenance of location in cell;IEA|GO:0055088;lipid homeostasis;IEA|GO:0055089;fatty acid homeostasis;IDA|GO:0060999;positive regulation of dendritic spine development;IDA|GO:0070328;triglyceride homeostasis;ISS|GO:0072358;cardiovascular system development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0097006;regulation of plasma lipoprotein particle levels;IEA|GO:0097113;AMPA glutamate receptor clustering;IDA|GO:0097114;NMDA glutamate receptor clustering;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1900221;regulation of beta-amyloid clearance;IDA|GO:1900272;negative regulation of long-term synaptic potentiation;IDA|GO:1901215;negative regulation of neuron death;IDA|GO:1901628;positive regulation of postsynaptic membrane organization;IDA|GO:1901630;negative regulation of presynaptic membrane organization;IDA|GO:1902430;negative regulation of beta-amyloid formation;IDA|GO:1902952;positive regulation of dendritic spine maintenance;IDA|GO:1902995;positive regulation of phospholipid efflux;IDA|GO:1903002;positive regulation of lipid transport across blood brain barrier;IDA|GO:1905855;positive regulation of heparan sulfate binding;IDA|GO:1905860;positive regulation of heparan sulfate proteoglycan binding;IDA|GO:1905890;regulation of cellular response to very-low-density lipoprotein particle stimulus;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005623;cell;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005769;early endosome;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030425;dendrite;NAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031012;extracellular matrix;IDA|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034362;low-density lipoprotein particle;IDA|GO:0034363;intermediate-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0043025;neuronal cell body;NAS|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA GO:0001540;beta-amyloid binding;IDA|GO:0005319;lipid transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IDA|GO:0008289;lipid binding;IDA|GO:0015485;cholesterol binding;IBA|GO:0016209;antioxidant activity;IDA|GO:0017127;cholesterol transporter activity;IBA|GO:0042802;identical protein binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046911;metal chelating activity;IDA|GO:0048156;tau protein binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0060228;phosphatidylcholine-sterol O-acyltransferase activator activity;IDA|GO:0070326;very-low-density lipoprotein particle receptor binding;IDA|GO:0071813;lipoprotein particle binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOE https://www.uniprot.org/uniprot/P02649 https://hpo.jax.org/app/browse/search?q=APOE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107741 http://www.informatics.jax.org/searchtool/Search.do?query=APOE&submit=Quick%0D%6331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOE rs405509 0.528155 0 0 1 0 0 upstream upstream upstream APOE APOE ENSG00000130203 Na Na Na Na Na Na Het;T>G 1526;41|70 Het;T>G 687;25|33 Hom;T>G 1760;0|66 N N - 19 45409167 45409167 C G snp nonsynonymous SNV C42G N14K polar,hydrophilic,neutral polar,hydrophilic,charged(+) APOE Apoe ENSG00000130203 apolipoprotein E chr19:45409011-45412650 The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016] diastolic blood pressure; glioblastoma; fluvastatin induced cholesterol changes; cognitive ability | hypertension; Spinal Cord Injuries; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Bone Mineral Density; Acute Coronary Syndrome|Inflammation; CADASIL|Chromosome Aberrations|Chromosome abnormality; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders|Tooth Loss; Brain Ischemia|Diabetes mellitus|Hemiplegia|Hypercholesterolemia|Hypertension|Obesity; Chronic renal failure|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glomerulonephritis|Kidney Failure, Chronic|Polycystic Kidney, Autosomal Dominant; Exfoliation Syndrome; restenosis; multiple sclerosis; subarachnoid hemorrhage; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; brain hemorrhage; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Brain Ischemia|Stroke; Congenital Heart Defects|Heart Defects, Congenital|Nervous System Diseases; Epilepsy, Temporal Lobe|Sclerosis; Alzheimer Disease|Alzheimer's Disease|Metabolic Diseases; Anemia, Iron-Deficiency|Iron deficiency anaemia; breast cancer; Alzheimer Disease|Amnesia|Atrophy|; elite runners; Memory Disorders; Amyloid Neuropathies, Familial; Hypercholesterolemia|LDLC levels; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Heart Diseases|Ventricular Dysfunction, Left; Alzheimer Disease|Alzheimer's Disease|Amnesia; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease|Hypercholesterolemia; Brain Ischemia|Intracranial Arteriosclerosis; Brain Ischemia|Carotid Artery Diseases|Stroke; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases|Vitamin B 12 Deficiency; Coronary Disease|Coronary heart disease|Inflammation; Down syndrome; premature coronary heart disease.; Cerebral Palsy; cardiovascular disease cholesterol, LDL diabetes, type 2 triglycerides; Brain Concussion|Brain Injuries|Unconsciousness; Cardiovascular Diseases|Obesity|Virilism; Cerebrovascular Disorders; Lipid levels|depression; Exfoliation Syndrome|Glaucoma, Open-Angle; Arteriovenous Malformations|Congenital arteriovenous malformation|Intracranial Hemorrhages; Cerebral Hemorrhage|Cerebral Hemorrhages; AIDS Dementia Complex|AIDS Related Dementia Complex; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Plasma Lipid Levels; diabetes, type 2; lipoprotein; Vertebral Artery Dissection; Confusion|Confusion (Mental)|Dementia|Disease Progression; Critical Illness|Delirium; Alzheimer Disease|Alzheimer's Disease|Encephalitis, Herpes Simplex|Herpes encephalitis; Adenoma|Colorectal Neoplasms; arterial wall thickness; Aphasia, Primary Progressive|Dementia; depressive symptoms; Alzheimer Disease|Alzheimer's Disease|Arteriosclerosis; Cardiovascular Diseases|Psychomotor Disorders; Sepsis|Systemic infection; Hepatitis C, Chronic|Liver Cirrhosis; Creutzfeldt-Jakob disease; endogenous hypertriglyceridemia and familial hypercholesterolemia; colorectal cancer; atherosclerotic disease; cholesterol, HDL; triglycerides; cholesterol, total; lung cancer ; Dementia; Obesity|Osteoporosis, Postmenopausal; Cerebral Hemorrhage|Cerebral Hemorrhages|Hypertension; Alzheimer Disease|Alzheimer's Disease|Disorders; Head and Neck Neoplasms; Apoplexy|Cardiovascular Diseases|Ischemia|Stroke|Vascular Diseases; Breast Neoplasms|Lymphoma|Mammary Neoplasms; Fetal Diseases|Hypoxia-Ischemia, Brain|Infant, Newborn, Diseases; Brain Ischemia|Subarachnoid Hemorrhage; Alzheimer Disease|Cadaver; Learning Disorders; lipid profiles; Postoperative Complications; Amyotrophic Lateral Sclerosis|Craniocerebral Trauma|Injuries, Craniocerebral; Disease Progression; Coronary Stenosis|Hypertension; Cleft Lip|Cleft Palate; Osteoporosis, Postmenopausal; Cerebrovascular Disorders|Dementia; Spinal Cord Compression|Spinal Osteophytosis; Down Syndrome; Atherosclerosis|Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Hypertriglyceridemia; Epilepsy, Complex Partial; myocardial infarct; Brain Infarction|Cerebral Amyloid Angiopathy|Dementia|Diabetes Mellitus|Hyperinsulinism; Amyotrophic Lateral Sclerosis|; Kidney Failure; Hyperlipidemias; Epilepsy, Temporal Lobe|; left ventricular function; Rett Syndrome; Body Weight|Congenital Heart Defects|Growth Disorders|Heart Defects, Congenital; Diabetes mellitus|Kidney Diseases; Depression; Alcoholism|Hyperhomocysteinemia; Hyperlipidemias|Nephrotic Syndrome; Delirium|Postoperative Complications; Brain Ischemia|Carotid Stenosis; Alcoholism|Substance Withdrawal Syndrome; earlier age at onset in amyotrophic lateral sclerosis.; memory disturbance; insulin; lipoproteins; C-peptide; proinsulin; Diabetes Mellitus, Type 2|Uremia; acenocoumarol and phenprocoumon; Macular Degeneration; Confusion|Epilepsy, Temporal Lobe; Cardiovascular Diseases; Coronary Restenosis|Coronary Stenosis; Biliary Tract Neoplasms|Gallstones; Brain Injuries|Inflammation|Postoperative Complications; Cholelithiasis|Recurrence; Coronary Disease|Coronary heart disease|Hyperlipidemias; Cerebral Infarction|Intracranial Arteriosclerosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy; Parkinson Disease; dementia in other conditions; dementia but not cardiovascular mortality; Alzheimer Disease|Dementia|Memory Disorders; plasma HDL cholesterol (HDL-C) levels; Acute Coronary Syndrome; Geographic Atrophy|Macular Degeneration; Alzheimer Disease|Alzheimer's Disease|Dementia; Nephrotic Syndrome; Body Weight|Insulin Resistance|Syndrome; Amnesia|Brain Injuries; blood pressure, arterial; stroke, ischemic; atherosclerosis; Cardiovascular Diseases|Polycystic Ovary Syndrome; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; major depressive disorder; Alzheimer Disease|Memory Disorders; Multiple Sclerosis, Relapsing-Remitting; Diabetes Complications|; HIV Seropositivity; Alzheimer Disease|Down Syndrome; Alzheimer Disease|Dementia|Dementia, Vascular|Lewy Body Disease|Pick Disease of the Brain; Brain Ischemia|Subarachnoid Hemorrhage|Vasospasm, Intracranial; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; HIV Infections|[X]Human immunodeficiency virus disease; Anoxia|Brain Injuries|Hypotension; myocardial infarction; cardiovascular disease; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; Myocardial Ischemia|Nervous System Diseases|Postoperative Complications|Stroke; Smith-Lemli-Opitz syndrome; Myocardial Infarction; Cardiovascular Diseases|Hyperlipidemias; Memory Disorders|Sleep Apnea Syndromes; lipids; glucose; atherosclerosis; menopause; carotid atherosclerosis; triglycerides; insulin; lipoproteins; apoB; apoC-III; lipoprotein; lipids; cholesterol; cholesterol, HDL; lipoprotein; lipids; Coronary Disease|Hypercholesterolemia; Alzheimer Disease|Down Syndrome|; Brain Injuries|Dementia, Vascular|; LDL cholesterol; Renal Insufficiency, Chronic; Choroid Diseases|Macular Degeneration; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Hypercholesterolemia; Cerebral Hemorrhage|Recurrence|Stroke; Alzheimer Disease|Alzheimer's Disease|Dementia|Diabetes mellitus|Hypercholesterolemia|Metabolic Syndrome X; Aphasia|Aphasia, NOS|Apoplexy|Brain Ischemia|Stroke; Body Weight|Obesity; Cardiovascular Diseases|Inflammation; lipoprotein, LDL; lipids; preeclampsia; apolipoproteins; plasma lipid levels; Herpes Labialis; gallstones; Alzheimer Disease|Dementia|Dementia, Vascular|Lipid Metabolism Disorders|Neurodegenerative Diseases; Calcinosis|Carotid Artery Diseases; Hypertension; Atrial Fibrillation|Postoperative Complications; Atrophy|Dementia; Hyperlipidemias|Yin Deficiency; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Down Syndrome|Hepatitis B|Hypothyroidism; HIV Infections|Hyperlipidemias|[X]Human immunodeficiency virus disease; coronary heart disease and plasma lipid levels.; aneurysmal subarachnoid hemorrhage; Alzheimer's disease ; Hyperlipidemias|Hypertension; Hypercholesterolemia; Abortion, Spontaneous|Thrombosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hypercholesterolemia; Carotid Artery Diseases|Hypertension; Biliary calculi|Cholelithiasis|Gallstones; Encephalitis, Herpes Simplex|Herpes encephalitis; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy|Cerebral Infarction|Vascular Diseases; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy|Genetic Predisposition to Disease; Diabetic Neuropathies|Peripheral Nervous System Diseases|Sensation Disorders; Prion Diseases; diabetes, type 1; subjective quality of life; cardiovascular; general cognitive ability; Bone Resorption|Vitamin K Deficiency; Cerebral Hemorrhage|; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; bladder cancer; psoriasis; Brain Injuries|; Familial type 3 hyperlipoproteinaemia|Hyperlipoproteinemia Type III; Hyperlipoproteinemias; Malaria, Falciparum; Alzheimer Disease|Alzheimer's Disease|Hallucinations; Amyotrophic Lateral Sclerosis; dementia, vascular; Acute Coronary Syndrome|; cardiovascular risk; Perioperative genomic profiles ; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Insulin Resistance; Alzheimer Disease|Alzheimer's Disease|Mercury Poisoning, Nervous System; Dementia|Down Syndrome; Kidney Failure, Acute|Postoperative Complications; Apoplexy|Carotid Artery Thrombosis|Intracranial Arteriosclerosis|Stroke; Angina pectoris|Angina, Unstable|Myocardial Infarction|Unstable angina; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Lead Poisoning|Prenatal Exposure Delayed Effects; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular; Chronic Kidney Insufficiency|Renal Insufficiency, Chronic; non-demented leprosy patients; oxidized LDL; lipids; chronic obstructive pulmonary disease; working memory; Carotid Artery Diseases|Vascular Diseases; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Apoplexy|Hypoxia-Ischemia, Brain|Stroke; Alzheimer Disease|Alzheimer's Disease|Olfaction Disorders; Brain Concussion; Alzheimer's disease; Lewy body disease; null; Brain Edema|Brain Injuries|Cerebral Hemorrhage, Traumatic|Skull Fractures|Traumatic cerebral hemorrhage; Alzheimer Disease|Coronary Artery Disease|Hyperlipidemias; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases; C-Reactive Protein; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; multiple sclerosis.; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; attention brain white matter; Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Hypertension|Intracranial Arteriosclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Cardiovascular Diseases|Intracranial Hemorrhages|Stroke; Type 2 diabetes; Coronary Artery Disease|Plaque, Atherosclerotic; Hepatitis B; Alzheimer Disease|Alzheimer's Disease|Delirium|Recurrence; diabetic nephropathy; atherosclerosis, coronary; longevity; cholesterol; Brain Injuries|Hypopituitarism; Heart Defects, Congenital; HDL cholesterol; Hypertriglyceridemia|Psoriasis; familial combined hyperlipidemia; Cross Infection|Paramyxoviridae Infections; Hypertriglyceridemia|Pancreatitis; Fredrickson hyperlipoproteinemia; Paralysis|Sensation Disorders|Spinal Cord Injuries; Cardiovascular Diseases|Chronic renal failure|Kidney Failure, Chronic; Brain Infarction; Alzheimer Disease|Alzheimer's Disease|Memory Disorders; Hyperlipoproteinemia Type IV; Cerebral Hemorrhage|Cerebral Hemorrhages|Memory Disorders; Apoplexy|Stroke; Retinal Diseases; Fam hyperbetalipoproteinaemia|Hyperlipidemia, Familial Combined|Hyperlipoproteinemia Type II|Hypertriglyceridemia|Mixed hyperlipidemia; memory impairment; coronary heart disease; hypertension; mental illness; Apoplexy|Brain Ischemia|Stroke; Cerebral Amyloid Angiopathy; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Apoplexy|Brain Ischemia|Infarction, Middle Cerebral Artery|Stroke; cholesterol; coronary heart disease; lipoproteins; alcohol abuse; Alzheimer's disease; triglycerides; atherosclerosis, coronary; schizophrenia; Inflammation|Myocardial Infarction; Cerebral Infarction|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Ischemia|Stroke|Subarachnoid Hemorrhage; macular degeneration; Alzheimer's disease; Parkinson's disease; high-monounsaturated fatty acid diet; cholesterol, HDL; cholesterol, LDL; cholesterol, total; apoA1; apoE; apoB-100; Alzheimer Disease|; AIDS-Related Opportunistic Infections|Herpes Genitalis; Craniocerebral Trauma; Brain Damage, Chronic|Hypertension|Myocardial Ischemia|Stroke; Biliary calculi|Cholecystolithiasis|Gallstones|Lipid Metabolism Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Aortic Valve Stenosis|Calcinosis; Apoplexy|Brain Ischemia|Carotid artery stenosis|Carotid Stenosis|Infarction, Middle Cerebral Artery|Stroke; Mouth, Edentulous|Tooth Loss; triglycerides; cholesterol, total; apoA1; apoB; apoE; Familial dysbetalipoproteinemia; hypertension, pregnancy induced preeclampsia; Glomerulonephritis, IGA; body mass cholesterol cholesterol, LDL glucose insulin lipids; Recurrence|Venous Thromboembolism; Carotid Artery Diseases|Diabetes mellitus|Hypercholesterolemia; Bone Diseases, Metabolic|Osteoporosis; cerebrovascular disease; amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; sleep-disordered breathing; Multiple Sclerosis; Aphasia|Brain Ischemia|Cardiovascular Diseases|Cerebral Hemorrhage|Stroke; Coronary Artery Disease|Lupus Erythematosus, Systemic; Dementia|Memory Disorders|Stroke; Alzheimer Disease|Atrophy|Disease Progression; Cholelithiasis|Obesity, Morbid|Postoperative Complications; lipids; left ventricular mass; aortic gradient; aortic valve stenosis; bile lipid composition and cholesterol gallstone; Alzheimers disease; breast cancer ; multidimensional impairment; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Subarachnoid Hemorrhage|Vasospasm, Intracranial; cervical dystonia; genital herpes|Herpes Genitalis|Stomatitis, Herpetic; Hepatitis C|Remission, Spontaneous; Dystonic Disorders; outcome after head injury; thrombophilia and vascular disease; Alzheimer's disease vascular dementia; SNP allelic association; Kidney Failure, Chronic; Myocardial Ischemia; myocardial infarction | metabolic syndrome; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome; Candidiasis, Cutaneous|Cutaneous Candidiasis|Tinea Versicolor; Brain Injuries|Nerve Degeneration; Exophthalmos; Diabetes mellitus type II|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypoglycemia; Angina pectoris|Hyperlipidemias|Myocardial Infarction; Learning Disorders|Multiple Sclerosis; dementia; blood lipids and maximal oxygen uptake; Brain aging; holoprosencephaly; Carotid Artery Diseases; human fertility; Cataract|Macular Degeneration; Hypotension; Cardiovascular Diseases|Fatty Liver|Hyperlipidemias|Hypertriglyceridemia|Inflammation; Lupus Vasculitis, Central Nervous System; Body Weight|Coronary Disease; Coronary Disease|Coronary heart disease|Myocardial Infarction; Biliary calculi|Gallstones; lipid metabolism disorders; hyperlipidemia; depression; preeclampsia; pregnancy-induced chylomicronemia; Macular Degeneration|Vision, Low; recurrent pregnancy loss; Central Nervous System Diseases; Fetal Growth Retardation|Intrauterine growth retardation; Diabetes Complications|Ischemic Attack, Transient|Obesity|Transient Ischemic Attack; Alzheimer Disease|Disease Progression; bone density; synaptogenesis and memory.; persistent vegetative state; cerebrovascular disease; sickle cell anemia; Alzheimer's disease; dementia, vascular; Migraine Disorders|Tension-Type Headache; Alzheimer Disease|Atrophy|Dementia|Memory Disorders; Lymphoma, Non-Hodgkin; Coronary Disease|Obesity; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; Hyperlipidemias|Myocardial Infarction; Alzheimer Disease|Alzheimer's Disease|Disease Progression; lung cancer; Apoplexy|Dementia|Myocardial Infarction|Stroke; Hypercholesterolemia|Myocardial Infarction; beta Thalassemia|beta-Thalassemia|Ventricular Dysfunction, Left; gout; cardiovascular disease risk; memory performance; warfarin sensitivity; metabolic syndrome; pregnancy loss; Hepatopulmonary Syndrome|Liver Cirrhosis; Fatty Liver; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Diarrhea, Infantile; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Nerve Degeneration; Coronary Artery Disease|Hyperlipidemias; Cerebral Hemorrhage|Cerebral Hemorrhages|Hemorrhage|Hypertension; pregnancy loss, recurrent; atherosclerosis, coronary; cerebral infarct, atherothrombotic; cholesterol, LDL; personality traits; Ketosis; Alzheimer's disease cognitive function; patent ductus arteriosus; Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Arteriosclerosis|Brain Ischemia|Recurrence; Cerebral Amyloid Angiopathy|Plaque, Amyloid; Albuminuria|Inflammation|Kidney Diseases; Alzheimer Disease|Alzheimer's Disease|Atrophy|Dementia|Memory Disorders; Cellulitis|Obesity; Alcohol Amnestic Disorder|Alcoholism|Alzheimer Disease|Alzheimer's Disease; Apoplexy|Brain Ischemia|Hypertension|Stroke; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; cognitive decline; Fractures, Bone|Osteoporosis; cholesterol, HDL; cholesterol, LDL; apoA1; apoB; frontotemporal dementia; cholesterol, HDL triglycerides; Dyslipidemias|Nephrotic Syndrome; Cardiovascular Diseases|; Atherosclerosis|Cerebrovascular Disorders|Myocardial Ischemia; Wilsons disease; sleep disorders; Alzheimer Disease|Lewy Body Disease; Hyperlipoproteinemia Type III|Hypertriglyceridemia; Brain imaging ; Alzheimer Disease|Alzheimer's Disease|Dementia, Vascular; Pre-Eclampsia; Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Abortion, Habitual|Venous Thrombosis; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebrovascular Disorders|Hypertension; Dementia, Vascular; familial age-related macular degeneration.; ischemia; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; fetal loss, late; bone mineral density; cognitive function executive function memory disturbance; Dementia|Diseases in Twins; Thrombosis; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Alzheimer Disease|Alzheimer's Disease|Amyloidosis; Cerebral Hemorrhage|Cerebral Hemorrhages|Dementia, Vascular; high coronary heart disease risk particularly affects ser; cerebral amyloid angiopathy; senile plaques; progressive supranuclear palsy; nephropathy, diabetic; altered brain levels of apolipoprotein E; HDL Cholesterol; cholesterol, HDL cholesterol, LDL; Epilepsy|Seizures, Febrile; Alzheimer Disease|Alzheimer's Disease|Cerebrovascular Disorders; Alzheimer Disease|Alzheimer's Disease|Cerebrovascular Disorders|Dementia, Vascular; Cardiovascular Diseases|Hyperlipidemias|Hypertension|Obesity|Sleep Apnea, Obstructive; familial and sporadic frontotemporal dementia; HIV Infections; Neoplasms; Brain Injuries|Memory Disorders; Coronary Disease|Coronary heart disease|Hypertriglyceridemia|Pregnancy Complications|Weight Gain; Cardiovascular Diseases|Dementia; Sudden Infant Death; Akathisia, Drug-Induced; abnormal lipid profile; cognitive function; Chlamydophila Infections|Coronary Disease; aging; Delirium; left-handedness and visuospatial skills; Alzheimer Disease|Cardiovascular Diseases|Colorectal Neoplasms|Macular Degeneration; Arteriosclerosis; Alzheimer Disease|Alzheimer's Disease|Disorders of Excessive Somnolence|Memory Disorders; Arteriosclerosis|Cardiovascular Diseases; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alzheimer Disease|Alzheimer's Disease|Drug Toxicity|Edema|Nasopharyngitis; Cardiovascular Diseases|Macular Degeneration; Triglycerides; Lipid Metabolism; cognitive impairment; aneurysmal subarachnoid hemorrhage.; diabetes, type 2; Alzheimer Disease|Atrophy|; Hypertension|Myocardial ischemia; Cholesterol, total; Alzheimer Disease|Alzheimer's Disease|Glaucoma, Open-Angle; Neurodegenerative Diseases; ischaemic stroke; Alzheimer's Disease; age-related macular degeneration; nephropathy in other diseases; Atherosclerosis|Cerebral Infarction|Stroke; Brain Injuries|Intracranial Hypertension; mood disorders; Hypertension/complications*; Diabetes Mellitus|Hypertension|Stroke; heart disease; C-reactive protein; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Alzheimer Disease|Alzheimer's Disease|Down Syndrome|Olfaction Disorders; Craniocerebral Trauma|Injuries, Craniocerebral; Behcet Syndrome; Apoplexy|Brain Ischemia|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; Brain Injuries|Fatigue|Sleep Disorders; longevity; lipid metabolism; Alzheimer's disease - Galantamine response; hyperlipidemia; lipoprotein glomerulopathy; Alzheimer Disease|Aphasia|Atrophy|Syndrome; Inflammation|Memory Disorders; Atrophy|Brain Diseases; Myocardial ischemia; Coronary Disease|Coronary heart disease|Postoperative Complications; Metabolic Syndrome X; Age-associated memory impairment (AAMI); Lipids; Alzheimer's disease; NEUROLOGICALenerative disease; preeclamptic pregnancies; Coronary Disease; Hypertension|Stroke; AIDS Dementia Complex|HIV Infections; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Coronary Disease|Coronary heart disease|Hypertriglyceridemia; Hyperlipidemias|Obesity; Diseases in Twins|Obstetric Labor, Premature; Cytomegalovirus Infections|Herpes Simplex|Herpes Simplex Infections; cholesterol; apoA-IV; apoE; triacylglycerols; Alzheimer's disease; mild dyslipidemia; stroke; cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols; Alzheimer Disease|Olfaction Disorders; quantitative traits; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebral Infarction; Hypertriglyceridemia|Liver Cirrhosis, Alcoholic; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Dementia, Vascular|Vascular Diseases; Apoplexy|Memory Disorders|Stroke; Coronary Artery Disease|Hypertension; Carbon Monoxide Poisoning; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Alzheimer's disease; vascular dementia; Atherosclerosis; Myasthenia Gravis; HIV; Epilepsy, Temporal Lobe|Memory Disorders; Hepatitis C, Chronic|Liver Cirrhosis|Recurrence; Genetic Diseases, Inborn|Syndrome|Tetralogy of Fallot; obesity; hypercholesterolemia; Parkinson's disease; dementia; hallucinations; Diabetes Mellitus, Type 2|Diabetic Nephropathies; Colitis, Ulcerative; Dystonia|Psychomotor Disorders|Syndrome; Alzheimer's disease (late onset); Dementia|Disease Progression; Brain Concussion|Brain Injuries|Brain Ischemia; Migraine Disorders|Migraine with Aura|Migraine without Aura|Tension-Type Headache; Myositis, Inclusion Body; Alzheimer's disease|Type 2 diabetes; C-reactive protein cholesterol, LDL lipoprotein; Guillain-Barre syndrome; Traumatic Brain Imjury; Alzheimer Disease|Psychomotor Agitation; normal variation; Brain Injuries; Obesity; Atrophy; Athletic Injuries|Brain Concussion|; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hyperlipidemias; coronary artery disease; traumatic brain injury.; Parkinson's disease ; Carcinoma, Renal Cell|Kidney Neoplasms; Spinal Cord Diseases|Spondylosis; warfarin response; Psychomotor Agitation; Amnesia|Memory Disorders; Coronary Disease|Hyperlipidemias; Brain Injuries|Closed head injuries|Head Injuries, Closed; Alzheimer Disease|Alzheimer's Disease|Cerebral Amyloid Angiopathy; Brain Ischemia|Hemorrhage; Alzheimer Disease|Dementia; Cholesterol, LDL; cholelithiasis; Severe Malaria; cholesterol, HDL; cholesterol, LDL; lathosterol; cognitive ability; early onset ischemic heart disease.; Nerve Degeneration; Brain Edema|Cerebral Hemorrhage|; Cardiovascular Diseases|Obesity; Birth Weight; Confusion|Epilepsy, Temporal Lobe|Sclerosis|Seizures; Birth Weight|Congenital Abnormalities|Heart Defects, Congenital|Postoperative Complications|Syndrome; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Alzheimer Disease|Alzheimer's Disease|Atrophy; Heart Arrest; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure|kidney; failure; Fetal Nutrition Disorders|Hypercholesterolemia; Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Cerebral Hemorrhages; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular|Lewy Body Disease|Neurodegenerative Diseases; Brain Injuries|Dementia; diabetes, type 2; diabetic nephropathy; atherosclerosis, coronary; lipoprotein; Hyperhomocysteinemia|Lewy Body Disease|Psychomotor Disorders; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Heart Diseases|Hypercholesterolemia|Hypertension; Anticipation, Genetic|Myocardial Ischemia; Cardiovascular Diseases|Lupus Erythematosus, Systemic; Epilepsy, Temporal Lobe; Coronary Disease|Coronary heart disease|Familial type 3 hyperlipoproteinaemia|Hyperinsulinism|Hyperlipoproteinemia Type III|Peripheral Vascular Diseases; Dementia|Disease Susceptibility; Coronary Restenosis|Myocardial Infarction|Thrombosis; heart disease, ischemic; Ischaemic Stroke; diabetes, type 1; carotid atherosclerosis; Encephalitis; Fatty Liver|Hepatitis; Glaucoma, Open-Angle; cognitive performance; Dementia|Hyperhomocysteinemia|Vascular Diseases; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; prostate cancer; Xanthomatosis; Gallbladder Diseases; apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]; chronic obstructive pulmonary disease/COPD; neuropathy, Alzheimer's disease related; sporadic inclusion body myositis; hypertriglyceridemia; memory decline; Lead Poisoning, Nervous System, Adult; obstructive sleep apnea; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular; Perceptual Disorders; Carotid artery stenosis|Carotid Stenosis; Sleep Apnea, Obstructive; Alzheimer Disease|Alzheimer's Disease|Aphasia, Primary Progressive|Dementia|Memory Disorders|Neurodegenerative Diseases; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Myocardial Infarction|Shock, Cardiogenic; Hepatitis C, Chronic; Alcohol Amnestic Disorder|Alcohol-Related Disorders|Alcoholism|Substance Withdrawal Syndrome; triglycerides; life expectancy; hepatitis C; cholesterol, HDL; cholesterol, LDL; cholesterol, total; frontotemporal lobar degeneration; cardiovascular disease; periodontal disease; Alzheimer Disease; Lewy Body Disease; Coronary Disease|Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Alzheimer Disease|Alzheimer's Disease; Heart Diseases; Hyperhomocysteinemia|Hyperlipidemias; Plaque, Amyloid; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; autism; hypercholesterolemia; cholesterol, LDL; Dementia|Olfaction Disorders; Atrophy|Multiple Sclerosis, Relapsing-Remitting; Leukemia, Lymphocytic, Chronic, B-Cell; plasma lipoprotein traits; Coronary Disease|Coronary heart disease; Atrial Fibrillation|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Neuropathies; exfoliation syndrome; Alzheimer's disease apolipoprotein E levels; Coronary Artery Disease|; memory function; Insulin Resistance|Obesity; Brain Ischemia|Cerebral Infarction|Intracranial Aneurysm|Subarachnoid Hemorrhage; Alzheimer Disease|Dementia|Hypothyroidism|Memory Disorders; Coronary Stenosis|Hypertrophy, Left Ventricular|Sclerosis; Schizophrenia; Alzheimer Disease|Alzheimer's Disease|Dementia|Dementia, Vascular|Neurodegenerative Diseases; Spina Bifida Cystica; Brain Ischemia|Dementia; Angina pectoris; Body Weight; Colonic Neoplasms|Colorectal Neoplasms|Rectal Neoplasms; Cardiovascular Diseases|Dementia|Diabetes mellitus|Hypercholesterolemia|Pancreatitis; Dyslipidemias|Metabolic Syndrome X|Obesity; increased wall thickness of carotid and femoral arteries; Diabetes Mellitus, Type 2; Dementia|Memory Disorders; Autism; Apoplexy|Myocardial Infarction|Myocardial ischemia|Stroke; Apoplexy|Myocardial ischemia|Stroke; Cholelithiasis; Down Syndrome|Trisomy; Dementia|Hyperlipidemias; Hypertriglyceridemia|Pre-Eclampsia; retinopathy, diabetic; glaucoma; early onset temporal lobe epilepsy.; Cardiovascular Diseases|Diabetes Mellitus, Type 2|Hypercholesterolemia|Hyperlipidemias|Hypertension|Obesity; Sjogren's Syndrome; Severe type III hyperlipoproteinemia; episodic memory; Hypertension|Pregnancy Complications, Cardiovascular; Epilepsy, Post-Traumatic|Seizures; Alzheimer Disease|Alzheimer's Disease|Myocardial ischemia; Alzheimer Disease|Alzheimer's Disease|Dementia|Memory Disorders; Brain Injuries|Seizures; Cerebral Infarction; differential expansion rates of small abdominal aortic aneurysms; glaucoma, primary open-angle; anti-atherogenic lipoprotein profile; attention deficit disorder conduct disorder oppositional defiant disorder; Selenium; Colonic Neoplasms|Microsatellite Instability; Herpesviridae Infections; mild cognitive impairment; Apoplexy|Atherosclerosis|Cerebral Infarction|Stroke; Congenital Heart Defects|Heart Defects, Congenital; Coronary Disease|Coronary heart disease|Dyslipidemias; Hyperlipidemia, Familial Combined|Mixed hyperlipidemia; Aortic Valve Stenosis|Calcinosis|Diabetes mellitus|Hyperlipidemias|Hypertension|Mitral Valve Stenosis; lipoprotein distribution of ApoC-I; spinal muscular atrophy; cerebral amyloid angiopathy; lipoprotein; type III hyperlipoproteinemia; Dementia|; Subarachnoid Hemorrhage; Alzheimer Disease|Atrophy; Angina pectoris|Coronary Disease|Coronary heart disease|Myocardial Infarction; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperlipidemias; Apoplexy|Brain Ischemia|Cerebral Hemorrhage|Cerebral Hemorrhages|Stroke; Kidney Failure|kidney; failure; Alcohol Withdrawal Seizures|Alcoholism|Recurrence; Atherosclerosis|Chronic renal failure|Kidney Failure, Chronic; Hypertriglyceridemia|Metabolic Syndrome X; bulbar-onset motor neuron disease; angiographic coronary artery disease; Parkinson's disease; Alzheimer`s Disease; Hypertriglyceridemia|Pancreatitis|Recurrence; rapid motor decline; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; Metabolic Syndrome X|Obesity, Abdominal; Alzheimer Disease|Alzheimer's Disease|Brain Infarction|Cerebrovascular Disorders; dominant type III hyperlipoproteinemia; Stroke; lipid levels; Coronary Artery Disease; Alzheimer Disease|Alzheimer's Disease|Cardiovascular Diseases|Chronic Disease; Diarrhea; Athletic Injuries|Brain Concussion; Amyloidosis|Arthritis, Rheumatoid|Rheumatoid Arthritis; Alcoholism; Chronic progressive chorea|Huntington Disease; anticholinergic challenge-induced memory impairment; serum lipids; posterior cortical atrophy; smoking; cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; Temporal Lobe Epilepsy; Alzheimer`s disease; Hypertriglyceridemia; Alzheimer Disease|Cerebrovascular Disorders|; inflammatory bowel disease; Aneurysm, Ruptured|Intracranial Aneurysm|Recurrence|Subarachnoid Hemorrhage; Hearing Loss, Sensorineural|Sensorineural Hearing Loss; Acquired Immunodeficiency Syndrome|Kaposi Sarcoma|Lymphoma, AIDS-Related|Sarcoma, Kaposi; Dyslipidemias Mutations at this locus cause diet-induced hypercholesterolemia and atherosclerosis. Homozygous null mutants also develop foam-cell rich deposits in proximal aorta, impaired blood-nerve and blood-brain barriers, and many xanthomatous lesions. Retinoid metabolism and transport GO:0000302;response to reactive oxygen species;NAS|GO:0001523;retinoid metabolic process;TAS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002021;response to dietary excess;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IDA|GO:0006707;cholesterol catabolic process;IBA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007271;synaptic transmission, cholinergic;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010544;negative regulation of platelet activation;IDA|GO:0010873;positive regulation of cholesterol esterification;IDA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0010877;lipid transport involved in lipid storage;ISS|GO:0010976;positive regulation of neuron projection development;IDA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0015909;long-chain fatty acid transport;IDA|GO:0017038;protein import;IDA|GO:0019068;virion assembly;IMP|GO:0019433;triglyceride catabolic process;IBA|GO:0019934;cGMP-mediated signaling;IDA|GO:0030195;negative regulation of blood coagulation;IDA|GO:0030516;regulation of axon extension;TAS|GO:0030828;positive regulation of cGMP biosynthetic process;IDA|GO:0031102;neuron projection regeneration;IBA|GO:0032269;negative regulation of cellular protein metabolic process;IGI|GO:0032489;regulation of Cdc42 protein signal transduction;IDA|GO:0032805;positive regulation of low-density lipoprotein particle receptor catabolic process;IDA|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034371;chylomicron remodeling;TAS|GO:0034372;very-low-density lipoprotein particle remodeling;IDA|GO:0034374;low-density lipoprotein particle remodeling;IEA|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0034378;chylomicron assembly;TAS|GO:0034380;high-density lipoprotein particle assembly;IDA|GO:0034382;chylomicron remnant clearance;TAS|GO:0034384;high-density lipoprotein particle clearance;IDA|GO:0034447;very-low-density lipoprotein particle clearance;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042159;lipoprotein catabolic process;IBA|GO:0042311;vasodilation;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0042982;amyloid precursor protein metabolic process;IDA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IBA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0043687;post-translational protein modification;TAS|GO:0043691;reverse cholesterol transport;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0044794;positive regulation by host of viral process;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IDA|GO:0045807;positive regulation of endocytosis;IDA|GO:0046889;positive regulation of lipid biosynthetic process;IDA|GO:0046907;intracellular transport;TAS|GO:0048168;regulation of neuronal synaptic plasticity;TAS|GO:0048844;artery morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;IC|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051651;maintenance of location in cell;IEA|GO:0055088;lipid homeostasis;IEA|GO:0055089;fatty acid homeostasis;IDA|GO:0060999;positive regulation of dendritic spine development;IDA|GO:0070328;triglyceride homeostasis;ISS|GO:0072358;cardiovascular system development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0097006;regulation of plasma lipoprotein particle levels;IEA|GO:0097113;AMPA glutamate receptor clustering;IDA|GO:0097114;NMDA glutamate receptor clustering;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1900221;regulation of beta-amyloid clearance;IDA|GO:1900272;negative regulation of long-term synaptic potentiation;IDA|GO:1901215;negative regulation of neuron death;IDA|GO:1901628;positive regulation of postsynaptic membrane organization;IDA|GO:1901630;negative regulation of presynaptic membrane organization;IDA|GO:1902430;negative regulation of beta-amyloid formation;IDA|GO:1902952;positive regulation of dendritic spine maintenance;IDA|GO:1902995;positive regulation of phospholipid efflux;IDA|GO:1903002;positive regulation of lipid transport across blood brain barrier;IDA|GO:1905855;positive regulation of heparan sulfate binding;IDA|GO:1905860;positive regulation of heparan sulfate proteoglycan binding;IDA|GO:1905890;regulation of cellular response to very-low-density lipoprotein particle stimulus;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005623;cell;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005769;early endosome;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030425;dendrite;NAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031012;extracellular matrix;IDA|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034362;low-density lipoprotein particle;IDA|GO:0034363;intermediate-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0043025;neuronal cell body;NAS|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA GO:0001540;beta-amyloid binding;IDA|GO:0005319;lipid transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IDA|GO:0008289;lipid binding;IDA|GO:0015485;cholesterol binding;IBA|GO:0016209;antioxidant activity;IDA|GO:0017127;cholesterol transporter activity;IBA|GO:0042802;identical protein binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046911;metal chelating activity;IDA|GO:0048156;tau protein binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IDA|GO:0060228;phosphatidylcholine-sterol O-acyltransferase activator activity;IDA|GO:0070326;very-low-density lipoprotein particle receptor binding;IDA|GO:0071813;lipoprotein particle binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOE https://www.uniprot.org/uniprot/P02649 https://hpo.jax.org/app/browse/search?q=APOE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107741 http://www.informatics.jax.org/searchtool/Search.do?query=APOE&submit=Quick%0D%6331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOE rs440446 0.626198 0 0.5873 0.14 1 7 exonic intronic exonic APOE APOE ENSG00000130203 nonsynonymous SNV Na unknown APOE:NM_001302688:exon1:c.C42G:p.N14K, Na UNKNOWN Het;C>G 532;49|27 Het;C>G 723;25|33 Hom;C>G 1275;1|49 N N - 19 45496303 45496303 T C snp nonsynonymous SNV T650C M217T hydrophobic,neutral polar,hydrophilic,neutral CLPTM1 Clptm1 ENSG00000104853 CLPTM1, transmembrane protein chr19:45457842-45496599 cleft lip with cleft palate; cleft lip without cleft palate; cleft palate; oral clefts; Cleft Lip|Cleft Palate; cleft lip with cleft palate; cleft lip without cleft palate; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity GO:0007275;multicellular organism development;TAS|GO:0030154;cell differentiation;IEA|GO:0033081;regulation of T cell differentiation in thymus;ISS GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;ISS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLPTM1 https://www.uniprot.org/uniprot/O96005 https://www.ncbi.nlm.nih.gov/omim/?term=604783 http://www.informatics.jax.org/searchtool/Search.do?query=CLPTM1&submit=Quick%0D%3179ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLPTM1 rs9193 0.872604 0.8913 0.8554 0.25 1 4 UTR3 exonic exonic CLPTM1(NM_001282176:c.*148T>C,NM_001282175:c.*148T>C,NM_001294:c.*148T>C) CLPTM1 ENSG00000104853 Na nonsynonymous SNV unknown Na CLPTM1:uc021uvo.1:exon2:c.T650C:p.M217T, UNKNOWN Het;T>C 93;5|4 Ref Hom;T>C 77;0|3 N N - 19 45853413 45853413 T C snp UTR3 *1474A>G ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs238419 0.665535 0 0 1 0 0 intronic intronic UTR3 KLC3 KLC3 ENSG00000104884(ENST00000391945:c.*1474A>G) Na Na Na Na Na Na Het;T>C 49;1|2 Ref Hom;T>C 134;0|4 N N - 19 45853517 45853518 CA C indel UTR3 *1370_*1369delinsG ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs61513187 0.616214 0 0 1 0 0 intronic intronic UTR3 KLC3 KLC3 ENSG00000104884(ENST00000391945:c.*1370_*1369delinsG) Na Na Na Na Na Na Het;-A 233;6|15 Het;-A 87;8|8 Hom;-A 355;2|19 N N - 19 45856468 45856468 G C snp intronic ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs238417 0.634385 0.6785 0.5959 1 0 0 intronic intronic intronic ERCC2 ERCC2 ENSG00000104884 Na Na Na Na Na Na Het;G>C 2603;123|119 Het;G>C 2343;117|106 Hom;G>C 6713;3|252 N N - 19 45857820 45857820 G A snp intronic ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs238414 0.420327 0 0 1 0 0 intronic intronic intronic ERCC2 ERCC2 ENSG00000104884 Na Na Na Na Na Na Het;G>A 99;5|4 Het;G>A 137;2|5 Hom;G>A 201;0|6 N N - 19 45867216 45867216 T TG indel intronic ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs3916815 0.438099 0.3478 0.2810 1 0 0 intronic intronic intronic ERCC2 ERCC2 ENSG00000104884 Na Na Na Na Na Na Het;+G 841;24|34 Het;+G 224;43|14 Hom;+G 1398;2|50 N N - 19 45873942 45873942 G C snp UTR5 -519C>G ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs3810366 0.575479 0 0 1 0 0 upstream upstream UTR5 ERCC2 ERCC2 ENSG00000104884(ENST00000391941:c.-519C>G) Na Na Na Na Na Na Het;G>C 148;9|5 Het;G>C 117;7|5 Hom;G>C 261;0|10 N N - 19 46141677 46141677 A G snp intronic EML2 Eml2 ENSG00000125746 echinoderm microtubule associated protein like 2 chr19:46110252-46148887 GO:0007601;visual perception;TAS|GO:0007605;sensory perception of sound;TAS|GO:0010968;regulation of microtubule nucleation;IDA|GO:0031115;negative regulation of microtubule polymerization;IDA GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0072686;mitotic spindle;IDA GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008022;protein C-terminus binding;IEA|GO:0015631;tubulin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EML2 https://www.uniprot.org/uniprot/O95834 https://www.ncbi.nlm.nih.gov/omim/?term=617494 http://www.informatics.jax.org/searchtool/Search.do?query=EML2&submit=Quick%0D%5827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EML2 rs6509227 0.44369 0 0 1 0 0 intronic intronic intronic EML2 EML2 ENSG00000125746 Na Na Na Na Na Na Het;A>G 871;23|31 Het;A>G 335;14|14 Hom;A>G 1010;0|31 N N - 19 46185217 46185217 C A snp UTR3 *24C>A GIPR Gipr ENSG00000010310 gastric inhibitory polypeptide receptor chr19:46171502-46186982 This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011] Hyperparathyroidism, Secondary; Body Weight|Glucose Intolerance|Insulin Resistance|Obesity; Multiple Sclerosis; diabetes, type 2; Body Mass Index; two-hour glucose challenge ; Glucose Tolerance Test; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Obesity Homozygous inactivation of this gene results in mild glucose intolerance due to impaired glucose-stimulated insulin secretion. Glucagon-type ligand receptors GO:0002029;desensitization of G-protein coupled receptor protein signaling pathway;IEA|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;TAS|GO:0009749;response to glucose;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0038192;gastric inhibitory peptide signaling pathway;IEA|GO:0048678;response to axon injury;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051592;response to calcium ion;IEA|GO:0070542;response to fatty acid;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016519;gastric inhibitory peptide receptor activity;IEA|GO:0017046;peptide hormone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GIPR https://www.uniprot.org/uniprot/P48546 https://www.ncbi.nlm.nih.gov/omim/?term=137241 http://www.informatics.jax.org/searchtool/Search.do?query=GIPR&submit=Quick%0D%519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GIPR rs12709891 0.260184 0.2079 0.2970 1 0 0 UTR3 UTR3 UTR3 GIPR(NM_000164:c.*24C>A) GIPR(uc002pct.1:c.*248C>A,uc002pcu.1:c.*24C>A,uc010xxp.1:c.*24C>A) ENSG00000010310(ENST00000590918:c.*24C>A,ENST00000263281:c.*248C>A,ENST00000585889:c.*496C>A,ENST00000304207:c.*24C>A) Na Na Na Na Na Na Het;C>A 60;10|4 Ref Hom;C>A 530;0|21 N N - 19 46191021 46191021 A G snp intronic SNRPD2 Snrpd2 ENSG00000125743 small nuclear ribonucleoprotein D2 polypeptide chr19:46190712-46195827 The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] mRNA Splicing - Minor Pathway GO:0000245;spliceosomal complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;TAS|GO:0051170;nuclear import;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005682;U5 snRNP;IBA|GO:0005685;U1 snRNP;IDA|GO:0005686;U2 snRNP;IBA|GO:0005687;U4 snRNP;IDA|GO:0005689;U12-type spliceosomal complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030532;small nuclear ribonucleoprotein complex;TAS|GO:0034709;methylosome;IDA|GO:0034715;pICln-Sm protein complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA|GO:0070062;extracellular exosome;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNRPD2 https://www.uniprot.org/uniprot/P62316 https://www.ncbi.nlm.nih.gov/omim/?term=601061 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPD2&submit=Quick%0D%5825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPD2 rs2075142 0.260783 0.2183 0.2710 1 0 0 intronic intronic intronic SNRPD2 SNRPD2 ENSG00000125743 Na Na Na Na Na Na Het;A>G 835;32|34 Het;A>G 364;17|16 Hom;A>G 825;0|27 N N - 19 46195051 46195051 G GC indel intronic SNRPD2 Snrpd2 ENSG00000125743 small nuclear ribonucleoprotein D2 polypeptide chr19:46190712-46195827 The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] mRNA Splicing - Minor Pathway GO:0000245;spliceosomal complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;TAS|GO:0051170;nuclear import;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005682;U5 snRNP;IBA|GO:0005685;U1 snRNP;IDA|GO:0005686;U2 snRNP;IBA|GO:0005687;U4 snRNP;IDA|GO:0005689;U12-type spliceosomal complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030532;small nuclear ribonucleoprotein complex;TAS|GO:0034709;methylosome;IDA|GO:0034715;pICln-Sm protein complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA|GO:0070062;extracellular exosome;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNRPD2 https://www.uniprot.org/uniprot/P62316 https://www.ncbi.nlm.nih.gov/omim/?term=601061 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPD2&submit=Quick%0D%5825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPD2 rs397937545 0.200679 0.2047 0 1 0 0 intronic intronic intronic SNRPD2 SNRPD2 ENSG00000125743 Na Na Na Na Na Na Het;+C 781;59|39 Het;+C 428;32|22 Hom;+C 1549;4|68 N N - 19 46313825 46313825 A T snp intronic RSPH6A Rsph6a ENSG00000104941 radial spoke head 6 homolog A chr19:46298968-46318577 The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008] Death, Sudden, Cardiac Male mice homozygous for a null mutation display infertility with immotile sperm, and abnormal sperm heads and tails. GO:0005622;intracellular;IDA http://www.genecards.org/index.php?path=/Search/keyword/RSPH6A https://www.uniprot.org/uniprot/Q9H0K4 https://www.ncbi.nlm.nih.gov/omim/?term=607548 http://www.informatics.jax.org/searchtool/Search.do?query=RSPH6A&submit=Quick%0D%3207ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSPH6A rs10407137 0.785343 0.7882 0.7539 1 0 0 intronic intronic intronic RSPH6A RSPH6A ENSG00000104941 Na Na Na Na Na Na Het;A>T 618;31|26 Het;A>T 587;17|27 Hom;A>T 1171;0|45 N N - 19 46318677 46318678 TC T indel upstream;downstream ENSG00000104941 rs375416228 0 0 0 1 0 0 upstream;downstream upstream;downstream upstream;downstream RSPH6A;SYMPK RSPH6A;SYMPK ENSG00000104941;ENSG00000125755 Na Na Na Na Na Na Het;-C 289;3|11 Ref Hom;-C 202;0|6 N N - 19 46318963 46318963 C A snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs3810331 0.865815 0.8902 0.8637 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;C>A 469;20|19 Het;C>A 581;14|23 Hom;C>A 1173;0|46 N N - 19 46321539 46321539 G C snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs11670843 0.854832 0 0 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;G>C 272;3|8 Het;G>C 121;3|4 Hom;G>C 319;0|9 N N - 19 46326200 46326200 A G snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs12976060 0.854832 0 0 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;A>G 311;10|11 Het;A>G 154;6|7 Hom;A>G 318;0|12 N N - 19 46327185 46327185 G C snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs7252416 0.854832 0.8709 0.8454 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;G>C 609;22|25 Het;G>C 753;20|21 Hom;G>C 1405;0|42 N N - 19 46327209 46327210 CT C indel intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs11284049 0 0 0 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;-T 506;14|17 Het;-T 184;18|8 Hom;-T 1012;0|28 N N - 19 46329387 46329387 C G snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs12459063 0.854832 0 0 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;C>G 196;5|6 Ref Hom;C>G 247;0|9 N N - 19 46329438 46329438 G A snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs7246155 0.855032 0.8672 0.8389 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;G>A 291;20|13 Ref Hom;G>A 583;0|21 N N - 19 46331302 46331302 C G snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs4239535 0.852236 0 0 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;C>G 337;10|12 Het;C>G 266;4|8 Hom;C>G 291;0|8 N N - 19 46332194 46332194 C T snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs3745929 0.854832 0.8664 0.8446 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;C>T 834;35|31 Het;C>T 535;27|23 Hom;C>T 1591;0|53 N N - 19 46333632 46333632 G A snp ncRNA_exonic AC092301.1 rs4516331 0.854832 0 0 1 0 0 intronic intronic ncRNA_exonic SYMPK SYMPK ENSG00000269148 Na Na Na Na Na Na Het;G>A 220;3|7 Het;G>A 31;6|2 Hom;G>A 226;0|7 N N - 19 46334553 46334553 G A snp UTR3 *85C>T SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs4803865 0.838858 0 0 1 0 0 intronic UTR3 intronic SYMPK SYMPK(uc002pdq.2:c.*85C>T) ENSG00000125755 Na Na Na Na Na Na Het;G>A 105;16|6 Het;G>A 141;9|7 Hom;G>A 156;0|5 N N - 19 46334955 46334955 C T snp intronic SYMPK Sympk ENSG00000125755 symplekin chr19:46318668-46366548 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Crohn Disease|Crohn's disease Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0007155;cell adhesion;IEA|GO:0031124;mRNA 3'-end processing;TAS|GO:0035307;positive regulation of protein dephosphorylation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0097165;nuclear stress granule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYMPK https://www.uniprot.org/uniprot/Q92797 https://www.ncbi.nlm.nih.gov/omim/?term=602388 http://www.informatics.jax.org/searchtool/Search.do?query=SYMPK&submit=Quick%0D%5829ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYMPK rs4803866 0.855032 0 0 1 0 0 intronic intronic intronic SYMPK SYMPK ENSG00000125755 Na Na Na Na Na Na Het;C>T 391;18|15 Het;C>T 359;12|15 Hom;C>T 971;0|28 N N - 19 463810 463811 GC G indel UTR3 *34_*33delinsC ODF3L2 Odf3l2 ENSG00000181781 outer dense fiber of sperm tails 3 like 2 chr19:463346-474983 GO:0005881;cytoplasmic microtubule;IDA http://www.genecards.org/index.php?path=/Search/keyword/ODF3L2 http://www.informatics.jax.org/searchtool/Search.do?query=ODF3L2&submit=Quick%0D%14668ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3L2 rs398079668 0.890775 0.8250 0.8591 1 0 0 UTR3 UTR3 UTR3 ODF3L2(NM_182577:c.*34_*33delinsC) ODF3L2(uc002lor.3:c.*34_*33delinsC,uc010drp.3:c.*34_*33delinsC) ENSG00000181781(ENST00000315489:c.*34_*33delinsC,ENST00000382696:c.*34_*33delinsC) Na Na Na Na Na Na Het;-C 283;18|13 Het;-C 133;8|7 Hom;-C 337;0|12 N N - 19 464310 464310 A G snp nonsynonymous SNV T404C V135A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ODF3L2 Odf3l2 ENSG00000181781 outer dense fiber of sperm tails 3 like 2 chr19:463346-474983 GO:0005881;cytoplasmic microtubule;IDA http://www.genecards.org/index.php?path=/Search/keyword/ODF3L2 http://www.informatics.jax.org/searchtool/Search.do?query=ODF3L2&submit=Quick%0D%14668ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3L2 rs34551779 0.436901 0.3579 0.4168 0.08 1 13 exonic exonic exonic ODF3L2 ODF3L2 ENSG00000181781 nonsynonymous SNV nonsynonymous SNV unknown ODF3L2:NM_182577:exon4:c.T404C:p.V135A, ODF3L2:uc002lor.3:exon4:c.T404C:p.V135A,ODF3L2:uc010drp.3:exon3:c.T296C:p.V99A, UNKNOWN Het;A>G 1456;66|58 Het;A>G 1107;51|42 Hom;A>G 2545;0|82 N N - 19 464612 464612 C A snp intronic ODF3L2 Odf3l2 ENSG00000181781 outer dense fiber of sperm tails 3 like 2 chr19:463346-474983 GO:0005881;cytoplasmic microtubule;IDA http://www.genecards.org/index.php?path=/Search/keyword/ODF3L2 http://www.informatics.jax.org/searchtool/Search.do?query=ODF3L2&submit=Quick%0D%14668ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3L2 rs4919890 0.878794 0 0 1 0 0 intronic intronic intronic ODF3L2 ODF3L2 ENSG00000181781 Na Na Na Na Na Na Het;C>A 82;1|4 Ref Hom;C>A 71;0|4 N N - 19 46714904 46714904 G A snp ncRNA_exonic DKFZp434J0226 rs62111781 0.321086 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;G>A 936;44|48 Het;G>A 879;51|45 Hom;G>A 1834;0|71 N N - 19 46715309 46715310 AT A indel ncRNA_intronic DKFZp434J0226 rs3214328 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;-T 339;27|20 Het;-T 337;13|18 Hom;-T 1203;0|48 N N - 19 46715970 46715970 T TTCTC indel ncRNA_intronic DKFZp434J0226 rs3059263 0.42492 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;+TCTC 165;9|7 Ref Hom;+TCTC 188;0|5 N N - 19 46716716 46716716 A G snp ncRNA_exonic DKFZp434J0226 rs12971702 0.353435 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;A>G 1298;53|57 Het;A>G 1404;31|62 Hom;A>G 1548;0|56 N N - 19 46718107 46718107 T C snp downstream AC006262.1 rs4803908 0.322684 0 0 1 0 0 downstream downstream downstream DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;T>C 538;24|26 Het;T>C 458;36|25 Hom;T>C 1493;0|54 N N - 19 46718150 46718150 G A snp downstream AC006262.1 rs34252383 0.415735 0 0 1 0 0 downstream downstream downstream DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;G>A 431;14|15 Het;G>A 359;12|12 Hom;G>A 797;0|20 N N - 19 46718211 46718211 A C snp downstream AC006262.1 rs28434013 0.544928 0 0 1 0 0 downstream downstream downstream DKFZp434J0226 DKFZp434J0226 ENSG00000268460 Na Na Na Na Na Na Het;A>C 148;3|6 Het;A>C 129;4|5 Hom;A>C 140;0|4 N N - 19 46733912 46733912 A G snp ncRNA_intronic RNU6-66P rs2286802 0.53754 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic RNU6-66P RNU6-66P ENSG00000188293 Na Na Na Na Na Na Het;A>G 230;12|7 Het;A>G 243;4|7 Hom;A>G 436;0|11 N N - 19 46733916 46733916 G A snp ncRNA_intronic RNU6-66P rs2286803 0.536342 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic RNU6-66P RNU6-66P ENSG00000188293 Na Na Na Na Na Na Het;G>A 230;12|7 Het;G>A 246;3|7 Hom;G>A 411;0|10 N N - 19 46734255 46734255 A C snp UTR3 *168A>C IGFL1 ENSG00000188293 IGF like family member 1 chr19:46733009-46734500 The protein encoded by this gene is a member of the insulin-like growth factor family of signaling molecules. The encoded protein is synthesized as a precursor protein and is proteolytically cleaved to form a secreted mature peptide. The mature peptide binds to a receptor, which in mouse was found on the cell surface of T cells. Increased expression of this gene may be linked to psoriasis. [provided by RefSeq, Aug 2016] GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IGFL1 https://www.ncbi.nlm.nih.gov/omim/?term=610544 http://www.informatics.jax.org/searchtool/Search.do?query=IGFL1&submit=Quick%0D%16004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFL1 rs2286804 0.461861 0 0 1 0 0 ncRNA_intronic ncRNA_intronic UTR3 RNU6-66P RNU6-66P ENSG00000188293(ENST00000437936:c.*168A>C) Na Na Na Na Na Na Het;A>C 150;11|7 Ref Hom;A>C 119;0|4 N N - 19 46811857 46811857 C T snp intronic HIF3A Hif3a ENSG00000124440 hypoxia inducible factor 3 alpha subunit chr19:46800303-46846690 The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] Mice homozygous for a knock-out allele display impaired lung remodeling resulting in hypertrophy of the heart right ventricle and pulmonary hyperplasia. Neddylation GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0016567;protein ubiquitination;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIF3A https://www.uniprot.org/uniprot/Q9Y2N7 https://www.ncbi.nlm.nih.gov/omim/?term=609976 http://www.informatics.jax.org/searchtool/Search.do?query=HIF3A&submit=Quick%0D%5656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIF3A rs73059757 0.277756 0 0 1 0 0 intronic intronic intronic HIF3A HIF3A ENSG00000124440 Na Na Na Na Na Na Het;C>T 400;38|18 Het;C>T 498;24|22 Hom;C>T 1422;0|49 N N - 19 46972967 46972967 G C snp intronic PNMAL1 Pnmal1 rs2288916 0.408147 0.3745 0.4718 1 0 0 intronic intronic intronic PNMAL1 PNMAL1 ENSG00000182013 Na Na Na Na Na Na Het;G>C 530;33|22 Het;G>C 822;32|37 Hom;G>C 1692;0|57 N N - 19 47342867 47342867 A C snp nonsynonymous SNV T164G I55S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral AP2S1 Ap2s1 ENSG00000042753 adaptor related protein complex 2 sigma 1 subunit chr19:47341393-47354249 One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE III LDL clearance GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006897;endocytosis;IEA|GO:0007018;microtubule-based movement;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030100;regulation of endocytosis;TAS|GO:0032802;low-density lipoprotein particle receptor catabolic process;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048268;clathrin coat assembly;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061024;membrane organization;TAS|GO:0072583;clathrin-dependent endocytosis;TAS GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030122;AP-2 adaptor complex;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0036020;endolysosome membrane;TAS GO:0005215;transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0035615;clathrin adaptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AP2S1 https://www.uniprot.org/uniprot/P53680 https://hpo.jax.org/app/browse/search?q=AP2S1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602242 http://www.informatics.jax.org/searchtool/Search.do?query=AP2S1&submit=Quick%0D%837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP2S1 rs312185 0.590655 0.5104 0.4941 0.25 1 4 exonic intronic exonic AP2S1 AP2S1 ENSG00000042753 nonsynonymous SNV Na unknown AP2S1:NM_001301078:exon3:c.T164G:p.I55S, Na UNKNOWN Het;A>C 998;72|45 Het;A>C 1459;43|67 Hom;A>C 2996;0|112 N N - 19 47549602 47549602 C A snp intronic TMEM160 Tmem160 ENSG00000130748 transmembrane protein 160 chr19:47549165-47551888 GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM160 https://www.uniprot.org/uniprot/Q9NX00 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM160&submit=Quick%0D%6432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM160 rs73566537 0.119409 0 0 1 0 0 intronic intronic intronic TMEM160 TMEM160 ENSG00000130748 Na Na Na Na Na Na Het;C>A 226;11|11 Ref Hom;C>A 291;0|10 N N - 19 47549962 47549962 G A snp intronic TMEM160 Tmem160 ENSG00000130748 transmembrane protein 160 chr19:47549165-47551888 GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM160 https://www.uniprot.org/uniprot/Q9NX00 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM160&submit=Quick%0D%6432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM160 rs73566538 0.125399 0.1458 0.1263 1 0 0 intronic intronic intronic TMEM160 TMEM160 ENSG00000130748 Na Na Na Na Na Na Het;G>A 1282;104|60 Ref Hom;G>A 4736;0|176 N N - 19 47770032 47770032 C T snp synonymous SNV C885T A295A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC9 Ccdc9 ENSG00000105321 coiled-coil domain containing 9 chr19:47759237-47775210 GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC9 https://www.uniprot.org/uniprot/Q9Y3X0 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9 rs60383222 0.138578 0.1410 0.1742 1 0 0 exonic exonic exonic CCDC9 CCDC9 ENSG00000105321 synonymous SNV synonymous SNV unknown CCDC9:NM_015603:exon8:c.C885T:p.A295A, CCDC9:uc010xym.2:exon8:c.C885T:p.A295A, UNKNOWN Het;C>T 1494;63|65 Ref Hom;C>T 2738;2|99 N N - 19 47978671 47978671 G A snp UTR3 *2C>T KPTN Kptn ENSG00000118162 kaptin, actin binding protein chr19:47978401-47987525 This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] Macrocephaly Neurodevelopmental Delay and Seizures Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis. GO:0007015;actin filament organization;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0042149;cellular response to glucose starvation;IMP|GO:0061462;protein localization to lysosome;IMP|GO:1904262;negative regulation of TORC1 signaling;IMP GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0030027;lamellipodium;IDA|GO:0030426;growth cone;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0098871;postsynaptic actin cytoskeleton;IDA|GO:0140007;KICSTOR complex;IDA GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KPTN https://www.uniprot.org/uniprot/Q9Y664 https://hpo.jax.org/app/browse/search?q=KPTN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615620 http://www.informatics.jax.org/searchtool/Search.do?query=KPTN&submit=Quick%0D%4946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPTN rs2272295 0.180511 0.1297 0.1513 1 0 0 UTR3 UTR3 UTR3 KPTN(NM_007059:c.*2C>T,NM_001291296:c.*2C>T) KPTN(uc002pgy.3:c.*2C>T) ENSG00000118162(ENST00000338134:c.*2C>T,ENST00000536339:c.*2C>T,ENST00000594208:c.*947C>T) Na Na Na Na Na Na Het;G>A 1333;123|68 Ref Hom;G>A 4132;0|156 N N - 19 47986924 47986924 A G snp intronic KPTN Kptn ENSG00000118162 kaptin, actin binding protein chr19:47978401-47987525 This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] Macrocephaly Neurodevelopmental Delay and Seizures Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis. GO:0007015;actin filament organization;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0042149;cellular response to glucose starvation;IMP|GO:0061462;protein localization to lysosome;IMP|GO:1904262;negative regulation of TORC1 signaling;IMP GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0030027;lamellipodium;IDA|GO:0030426;growth cone;IEA|GO:0031941;filamentous actin;IDA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0098871;postsynaptic actin cytoskeleton;IDA|GO:0140007;KICSTOR complex;IDA GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KPTN https://www.uniprot.org/uniprot/Q9Y664 https://hpo.jax.org/app/browse/search?q=KPTN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615620 http://www.informatics.jax.org/searchtool/Search.do?query=KPTN&submit=Quick%0D%4946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPTN rs16972230 0.180511 0 0 1 0 0 intronic intronic intronic KPTN KPTN ENSG00000118162 Na Na Na Na Na Na Het;A>G 303;21|12 Ref Hom;A>G 967;0|29 N N - 19 47991451 47991451 A G snp ncRNA_intronic NAPA-AS1 rs10853789 0.199681 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NAPA-AS1 NAPA-AS1 ENSG00000268061 Na Na Na Na Na Na Het;A>G 2107;124|90 Ref Hom;A>G 4246;3|154 N N - 19 48017957 48017957 C T snp intronic NAPA Napa ENSG00000105402 NSF attachment protein alpha chr19:47990894-48018497 This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011] The homozygous null mutation is embryonic lethal while partial loss of function homozygous mutants develop hydrocephalus and die postnatally. These mutants also display central nervous system abnormalities and impaired motor capabilities. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;TAS|GO:0007420;brain development;IEA|GO:0010807;regulation of synaptic vesicle priming;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0030182;neuron differentiation;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035494;SNARE complex disassembly;IBA|GO:0045176;apical protein localization;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061025;membrane fusion;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005774;vacuolar membrane;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0031201;SNARE complex;IBA|GO:0043195;terminal bouton;IEA|GO:0043209;myelin sheath;IEA|GO:0070044;synaptobrevin 2-SNAP-25-syntaxin-1a complex;IEA|GO:0070062;extracellular exosome;IDA GO:0000149;SNARE binding;ISS|GO:0005483;soluble NSF attachment protein activity;IBA|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA|GO:0032403;protein complex binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NAPA https://www.uniprot.org/uniprot/P54920 https://www.ncbi.nlm.nih.gov/omim/?term=603215 http://www.informatics.jax.org/searchtool/Search.do?query=NAPA&submit=Quick%0D%3299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAPA rs34206657 0.180312 0 0 1 0 0 intronic intronic intronic NAPA NAPA ENSG00000105402 Na Na Na Na Na Na Het;C>T 65;4|3 Ref Hom;C>T 96;0|4 N N - 19 48032946 48032946 G C snp intronic ZNF541 Zfp541 ENSG00000118156 zinc finger protein 541 chr19:48023942-48059113 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF541 https://www.uniprot.org/uniprot/Q9H0D2 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541 rs3810319 0.147963 0.0999 0.1227 1 0 0 intronic intronic intronic ZNF541 ZNF541 ENSG00000118156 Na Na Na Na Na Na Het;G>C 600;22|26 Ref Hom;G>C 1135;0|41 N N - 19 48042976 48042976 C T snp nonsynonymous SNV G2782A G928R aliphatic,neutral polar,hydrophilic,charged(+) ZNF541 Zfp541 ENSG00000118156 zinc finger protein 541 chr19:48023942-48059113 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF541 https://www.uniprot.org/uniprot/Q9H0D2 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541 rs12972658 0.148562 0.0999 0.1495 0.46 6 13 exonic exonic exonic ZNF541 ZNF541 ENSG00000118156 nonsynonymous SNV nonsynonymous SNV unknown ZNF541:NM_001277075:exon6:c.G2782A:p.G928R, ZNF541:uc010xyt.3:exon6:c.G2782A:p.G928R,ZNF541:uc010eli.4:exon4:c.G2224A:p.G742R,ZNF541:uc002phg.5:exon6:c.G2782A:p.G928R, UNKNOWN Het;C>T 1393;75|64 Ref Hom;C>T 2742;4|100 N N - 19 48043647 48043647 C T snp intronic ZNF541 Zfp541 ENSG00000118156 zinc finger protein 541 chr19:48023942-48059113 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF541 https://www.uniprot.org/uniprot/Q9H0D2 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541 rs34156544 0.147764 0 0 1 0 0 intronic intronic intronic ZNF541 ZNF541 ENSG00000118156 Na Na Na Na Na Na Het;C>T 491;22|24 Ref Hom;C>T 1321;2|48 N N - 19 48047278 48047278 T C snp intronic ZNF541 Zfp541 ENSG00000118156 zinc finger protein 541 chr19:48023942-48059113 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF541 https://www.uniprot.org/uniprot/Q9H0D2 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541 rs2081893 0.148762 0 0 1 0 0 intronic intronic intronic ZNF541 ZNF541 ENSG00000118156 Na Na Na Na Na Na Het;T>C 568;9|17 Ref Hom;T>C 474;0|14 N N - 19 48047821 48047821 C T snp synonymous SNV G1965A A655A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF541 Zfp541 ENSG00000118156 zinc finger protein 541 chr19:48023942-48059113 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF541 https://www.uniprot.org/uniprot/Q9H0D2 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF541&submit=Quick%0D%4944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF541 rs3826836 0.148562 0.1001 0.1247 1 0 0 exonic exonic exonic ZNF541 ZNF541 ENSG00000118156 synonymous SNV synonymous SNV unknown ZNF541:NM_001277075:exon3:c.G1965A:p.A655A, ZNF541:uc010xyt.3:exon3:c.G1965A:p.A655A,ZNF541:uc010elh.4:exon1:c.G1407A:p.A469A,ZNF541:uc010eli.4:exon1:c.G1407A:p.A469A,ZNF541:uc002phg.5:exon3:c.G1965A:p.A655A, UNKNOWN Het;C>T 2400;86|102 Ref Hom;C>T 4977;0|184 N N - 19 48221980 48221980 T C snp ncRNA_intronic AC010519.1 rs112058314 0 0 0 1 0 0 intronic intronic ncRNA_intronic EHD2 EHD2 ENSG00000268746 Na Na Na Na Na Na Het;T>C 151;5|6 Ref Hom;T>C 157;0|5 N N - 19 48229169 48229169 A G snp synonymous SNV A603G S201S polar,hydrophilic,neutral polar,hydrophilic,neutral EHD2 Ehd2 ENSG00000024422 EH domain containing 2 chr19:48216600-48246391 This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008] Factors involved in megakaryocyte development and platelet production GO:0006897;endocytosis;IEA|GO:0007596;blood coagulation;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0032456;endocytic recycling;IGI|GO:0072659;protein localization to plasma membrane;ISS|GO:0097320;plasma membrane tubulation;ISS|GO:1901741;positive regulation of myoblast fusion;ISS|GO:2001137;positive regulation of endocytic recycling;ISS GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0045171;intercellular bridge;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHD2 https://www.uniprot.org/uniprot/Q9NZN4 https://www.ncbi.nlm.nih.gov/omim/?term=605890 http://www.informatics.jax.org/searchtool/Search.do?query=EHD2&submit=Quick%0D%694ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD2 rs8111184 0.110024 0.1632 0.1280 1 0 0 exonic exonic exonic EHD2 EHD2 ENSG00000024422 synonymous SNV synonymous SNV unknown EHD2:NM_014601:exon4:c.A603G:p.S201S, EHD2:uc010xyu.2:exon3:c.A195G:p.S65S,EHD2:uc002phj.4:exon4:c.A603G:p.S201S, UNKNOWN Het;A>G 2860;131|125 Het;A>G 3247;144|148 Hom;A>G 8121;2|299 N N - 19 48239557 48239557 T G snp intronic EHD2 Ehd2 ENSG00000024422 EH domain containing 2 chr19:48216600-48246391 This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008] Factors involved in megakaryocyte development and platelet production GO:0006897;endocytosis;IEA|GO:0007596;blood coagulation;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0032456;endocytic recycling;IGI|GO:0072659;protein localization to plasma membrane;ISS|GO:0097320;plasma membrane tubulation;ISS|GO:1901741;positive regulation of myoblast fusion;ISS|GO:2001137;positive regulation of endocytic recycling;ISS GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS|GO:0045171;intercellular bridge;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHD2 https://www.uniprot.org/uniprot/Q9NZN4 https://www.ncbi.nlm.nih.gov/omim/?term=605890 http://www.informatics.jax.org/searchtool/Search.do?query=EHD2&submit=Quick%0D%694ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD2 rs11669035 0.470447 0 0 1 0 0 intronic intronic intronic EHD2 EHD2 ENSG00000024422 Na Na Na Na Na Na Het;T>G 960;19|25 Het;T>G 553;12|14 Hom;T>G 1028;0|28 N N - 19 48248834 48248834 T C snp synonymous SNV T18C S6S polar,hydrophilic,neutral polar,hydrophilic,neutral GLTSCR2 Gltscr2 rs10404034 0.0601038 0.1077 0.1100 1 0 0 exonic exonic exonic GLTSCR2 GLTSCR2 ENSG00000105373 synonymous SNV synonymous SNV unknown GLTSCR2:NM_015710:exon1:c.T18C:p.S6S, GLTSCR2:uc002phm.2:exon1:c.T18C:p.S6S, UNKNOWN Het;T>C 1385;53|60 Het;T>C 937;46|44 Hom;T>C 3028;0|108 N N - 19 48317250 48317250 T C snp intronic TPRX1 ENSG00000178928 tetrapeptide repeat homeobox 1 chr19:48304500-48322308 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPRX1 https://www.ncbi.nlm.nih.gov/omim/?term=611166 http://www.informatics.jax.org/searchtool/Search.do?query=TPRX1&submit=Quick%0D%14254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRX1 rs10424504 0.142772 0 0 1 0 0 intergenic intergenic intronic TPRX1(dist=10389),CRX(dist=7849) TPRX1(dist=10320),CRX(dist=7849) ENSG00000178928 Na Na Na Na Na Na Het;T>C 38;2|4 Ref Hom;T>C 186;0|8 N N - 19 484712 484712 G A snp intergenic ODF3L2 Odf3l2 ENSG00000181781 outer dense fiber of sperm tails 3 like 2 chr19:463346-474983 GO:0005881;cytoplasmic microtubule;IDA http://www.genecards.org/index.php?path=/Search/keyword/ODF3L2 http://www.informatics.jax.org/searchtool/Search.do?query=ODF3L2&submit=Quick%0D%14668ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3L2 rs758500 0.573283 0 0 1 0 0 intergenic intergenic intergenic ODF3L2(dist=9729),MADCAM1(dist=11778) ODF3L2(dist=9729),MADCAM1(dist=11778) ENSG00000181781(dist=9729),ENSG00000099866(dist=4464) Na Na Na Na Na Na Het;G>A 47;4|4 Het;G>A 43;1|2 Hom;G>A 96;0|5 N N - 19 48484150 48484150 G A snp intronic BSPH1 Bsph1 ENSG00000188334 binder of sperm protein homolog 1 chr19:48471303-48495427 GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IEA GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IEA GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BSPH1 https://www.ncbi.nlm.nih.gov/omim/?term=612213 http://www.informatics.jax.org/searchtool/Search.do?query=BSPH1&submit=Quick%0D%16015ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSPH1 rs10422554 0.395168 0 0.4372 1 0 0 intronic intronic intronic BSPH1 BSPH1 ENSG00000188334 Na Na Na Na Na Na Het;G>A 231;20|14 Het;G>A 253;15|13 Hom;G>A 475;0|21 N N - 19 48525507 48525507 G A snp nonsynonymous SNV G595A E199K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ELSPBP1 ENSG00000169393 epididymal sperm binding protein 1 chr19:48497908-48528410 The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008] Intelligence; Body Mass Index GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA GO:0008201;heparin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1 https://www.ncbi.nlm.nih.gov/omim/?term=607443 http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1 rs2303690 0.685304 0.5827 0.6144 0.08 1 13 exonic exonic exonic ELSPBP1 ELSPBP1 ENSG00000169393 nonsynonymous SNV nonsynonymous SNV unknown ELSPBP1:NM_022142:exon6:c.G595A:p.E199K, ELSPBP1:uc002pht.3:exon6:c.G595A:p.E199K, UNKNOWN Het;G>A 1648;95|78 Ref Hom;G>A 3615;0|130 N N - 19 48601350 48601350 T C snp UTR3 *14A>G PLA2G4C Pla2g4c ENSG00000105499 phospholipase A2 group IVC chr19:48551100-48614074 This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] schizophrenia; HIV; Type 2 Diabetes| edema | rosiglitazone; Premature Birth Hydrolysis of LPE GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0046475;glycerophospholipid catabolic process;IDA GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005543;phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4C https://www.uniprot.org/uniprot/Q9UP65 https://www.ncbi.nlm.nih.gov/omim/?term=603602 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4C&submit=Quick%0D%3318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4C rs251685 0.6252 0.6260 0.6100 1 0 0 intronic UTR3 intronic PLA2G4C PLA2G4C(uc002phy.4:c.*14A>G) ENSG00000105499 Na Na Na Na Na Na Het;T>C 442;7|16 Ref Hom;T>C 1022;0|39 N N - 19 48601454 48601454 T C snp synonymous SNV A510G P170P hydrophobic,neutral hydrophobic,neutral PLA2G4C Pla2g4c ENSG00000105499 phospholipase A2 group IVC chr19:48551100-48614074 This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] schizophrenia; HIV; Type 2 Diabetes| edema | rosiglitazone; Premature Birth Hydrolysis of LPE GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0046475;glycerophospholipid catabolic process;IDA GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005543;phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4C https://www.uniprot.org/uniprot/Q9UP65 https://www.ncbi.nlm.nih.gov/omim/?term=603602 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4C&submit=Quick%0D%3318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4C rs251684 0.663938 0.6515 0.6131 1 0 0 exonic exonic exonic PLA2G4C PLA2G4C ENSG00000105499 synonymous SNV synonymous SNV unknown PLA2G4C:NM_003706:exon6:c.A510G:p.P170P,PLA2G4C:NM_001159323:exon6:c.A510G:p.P170P,PLA2G4C:NM_001159322:exon6:c.A540G:p.P180P, PLA2G4C:uc010xzd.2:exon6:c.A540G:p.P180P,PLA2G4C:uc002phy.4:exon6:c.A510G:p.P170P,PLA2G4C:uc002phw.3:exon4:c.A315G:p.P105P,PLA2G4C:uc010elr.3:exon6:c.A510G:p.P170P,PLA2G4C:uc002phx.3:exon6:c.A510G:p.P170P, UNKNOWN Het;T>C 934;27|44 Ref Hom;T>C 1546;0|62 N N - 19 48601528 48601528 G T snp intronic PLA2G4C Pla2g4c ENSG00000105499 phospholipase A2 group IVC chr19:48551100-48614074 This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] schizophrenia; HIV; Type 2 Diabetes| edema | rosiglitazone; Premature Birth Hydrolysis of LPE GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0046475;glycerophospholipid catabolic process;IDA GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005543;phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4C https://www.uniprot.org/uniprot/Q9UP65 https://www.ncbi.nlm.nih.gov/omim/?term=603602 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4C&submit=Quick%0D%3318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4C rs251683 0.660343 0.6490 0.6109 1 0 0 intronic intronic intronic PLA2G4C PLA2G4C ENSG00000105499 Na Na Na Na Na Na Het;G>T 701;27|29 Ref Hom;G>T 1094;0|40 N N - 19 48601593 48601593 A AT indel intronic PLA2G4C Pla2g4c ENSG00000105499 phospholipase A2 group IVC chr19:48551100-48614074 This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] schizophrenia; HIV; Type 2 Diabetes| edema | rosiglitazone; Premature Birth Hydrolysis of LPE GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0046475;glycerophospholipid catabolic process;IDA GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005543;phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0047499;calcium-independent phospholipase A2 activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4C https://www.uniprot.org/uniprot/Q9UP65 https://www.ncbi.nlm.nih.gov/omim/?term=603602 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4C&submit=Quick%0D%3318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4C rs11432234 0.638379 0 0 1 0 0 intronic intronic intronic PLA2G4C PLA2G4C ENSG00000105499 Na Na Na Na Na Na Het;+T 102;11|7 Ref Hom;+T 258;0|12 N N - 19 48640625 48640625 A C snp intronic LIG1 Lig1 ENSG00000105486 DNA ligase 1 chr19:48618702-48673860 This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Graft vs Host Disease; Chronic renal failure|Kidney Failure, Chronic; Colorectal Neoplasms; breast cancer; head and neck cancer lung cancer; benzene haematotoxicity; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Breast Neoplasms|; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Head and Neck Neoplasms|Lung Neoplasms|Neoplasm of lung ; Brain Neoplasms|Glioma; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; lung cancer ; Leukemia, Myeloid, Chronic-Phase; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; esophageal adenocarcinoma; epithelial ovarian cancer ; Neoplasms; bladder cancer; Hematologic Neoplasms; lung cancer; chronic obstructive pulmonary disease Mice homozygous for a null allele exhibit impaired fetal hematopoiesis, develop anemia, and die by E16.5. Processive synthesis on the lagging strand GO:0006259;DNA metabolic process;TAS|GO:0006260;DNA replication;IEA|GO:0006266;DNA ligation;TAS|GO:0006281;DNA repair;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006284;base-excision repair;IDA|GO:0006297;nucleotide-excision repair, DNA gap filling;TAS|GO:0006298;mismatch repair;TAS|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0051103;DNA ligation involved in DNA repair;IEA|GO:0051301;cell division;IEA|GO:0071897;DNA biosynthetic process;IEA|GO:1903461;Okazaki fragment processing involved in mitotic DNA replication;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0003909;DNA ligase activity;TAS|GO:0003910;DNA ligase (ATP) activity;IBA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIG1 https://www.uniprot.org/uniprot/P18858 https://www.ncbi.nlm.nih.gov/omim/?term=126391 http://www.informatics.jax.org/searchtool/Search.do?query=LIG1&submit=Quick%0D%3315ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIG1 rs419664 0.71865 0 0 1 0 0 intronic intronic intronic LIG1 LIG1 ENSG00000105486 Na Na Na Na Na Na Het;A>C 75;5|3 Ref Hom;A>C 64;0|3 N N - 19 48711789 48711789 T G snp UTR3 *3471A>C CARD8 ENSG00000105483 caspase recruitment domain family member 8 chr19:48684027-48759203 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CARD8 https://www.uniprot.org/uniprot/Q9Y2G2 https://www.ncbi.nlm.nih.gov/omim/?term=609051 http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8 rs1968441 0.782548 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CARD8(NM_001184902:c.*3471A>C,NM_001184901:c.*3178A>C,NM_001184903:c.*3471A>C,NM_014959:c.*3178A>C,NM_001184900:c.*3178A>C) CARD8(uc010els.3:c.*3471A>C,uc010xzk.2:c.*3178A>C,uc010xzj.2:c.*3178A>C,uc002pie.4:c.*3178A>C,uc002pif.4:c.*3471A>C,uc021uwq.1:c.*3178A>C,uc021uwr.1:c.*3471A>C,uc002pig.4:c.*3178A>C,uc031rlm.1:c.*3178A>C,uc002pih.4:c.*3178A>C,uc010xzl.2:c.*3178A>C,uc010xzm.2:c.*3471A>C,uc002pii.4:c.*3471A>C) ENSG00000268583 Na Na Na Na Na Na Het;T>G 1756;96|77 Het;T>G 1357;82|64 Hom;T>G 5341;1|195 N N - 19 48711902 48711902 A G snp UTR3 *3358T>C CARD8 ENSG00000105483 caspase recruitment domain family member 8 chr19:48684027-48759203 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CARD8 https://www.uniprot.org/uniprot/Q9Y2G2 https://www.ncbi.nlm.nih.gov/omim/?term=609051 http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8 rs1968440 0.778954 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CARD8(NM_001184902:c.*3358T>C,NM_001184901:c.*3065T>C,NM_001184903:c.*3358T>C,NM_014959:c.*3065T>C,NM_001184900:c.*3065T>C) CARD8(uc010els.3:c.*3358T>C,uc010xzk.2:c.*3065T>C,uc010xzj.2:c.*3065T>C,uc002pie.4:c.*3065T>C,uc002pif.4:c.*3358T>C,uc021uwq.1:c.*3065T>C,uc021uwr.1:c.*3358T>C,uc002pig.4:c.*3065T>C,uc031rlm.1:c.*3065T>C,uc002pih.4:c.*3065T>C,uc010xzl.2:c.*3065T>C,uc010xzm.2:c.*3358T>C,uc002pii.4:c.*3358T>C) ENSG00000268583 Na Na Na Na Na Na Het;A>G 902;47|40 Het;A>G 771;54|33 Hom;A>G 3675;1|95 N N - 19 48712614 48712614 G C snp UTR3 *2646C>G CARD8 ENSG00000105483 caspase recruitment domain family member 8 chr19:48684027-48759203 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Leukemia, Lymphocytic, Chronic, B-Cell; Arthritis, Rheumatoid; Alzheimer's disease ; Crohn Disease|; Crohn Disease|Crohn's disease; longevity; antibody formation Crohn's disease ulcerative colitis; colorectal cancer; Arthritis; rheumatoid arthritis; esophageal adenocarcinoma; Tobacco Use Disorder; Bacterial Infections; Crohn's disease ulcerative colitis Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0072559;NLRP3 inflammasome complex;IDA GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0032089;NACHT domain binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CARD8 https://www.uniprot.org/uniprot/Q9Y2G2 https://www.ncbi.nlm.nih.gov/omim/?term=609051 http://www.informatics.jax.org/searchtool/Search.do?query=CARD8&submit=Quick%0D%3314ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARD8 rs1971785 0.831669 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CARD8(NM_001184902:c.*2646C>G,NM_001184901:c.*2353C>G,NM_001184903:c.*2646C>G,NM_014959:c.*2353C>G,NM_001184900:c.*2353C>G) CARD8(uc010els.3:c.*2646C>G,uc010xzk.2:c.*2353C>G,uc010xzj.2:c.*2353C>G,uc002pie.4:c.*2353C>G,uc002pif.4:c.*2646C>G,uc021uwq.1:c.*2353C>G,uc021uwr.1:c.*2646C>G,uc002pig.4:c.*2353C>G,uc031rlm.1:c.*2353C>G,uc002pih.4:c.*2353C>G,uc010xzl.2:c.*2353C>G,uc010xzm.2:c.*2646C>G,uc002pii.4:c.*2646C>G) ENSG00000268583 Na Na Na Na Na Na Het;G>C 614;14|22 Het;G>C 229;16|10 Hom;G>C 1017;0|35 N N - 19 48715269 48715269 T C snp ncRNA_intronic AC011466.1 rs2008521 0.816893 0.8512 0.8695 1 0 0 intronic intronic ncRNA_intronic CARD8 CARD8 ENSG00000268583 Na Na Na Na Na Na Het;T>C 305;21|12 Het;T>C 472;12|19 Hom;T>C 949;0|34 N N - 19 48800338 48800338 A G snp synonymous SNV T1908C S636S polar,hydrophilic,neutral polar,hydrophilic,neutral CCDC114 Ccdc114 ENSG00000105479 coiled-coil domain containing 114 chr19:48799714-48825151 This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013] Type 2 Diabetes| edema | rosiglitazone GO:0003341;cilium movement;IMP|GO:0036158;outer dynein arm assembly;IMP GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0036157;outer dynein arm;IMP|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC114 https://www.uniprot.org/uniprot/Q96M63 https://hpo.jax.org/app/browse/search?q=CCDC114&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615038 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC114&submit=Quick%0D%3313ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC114 rs7252988 0.464657 0.6226 0.5703 1 0 0 exonic exonic exonic CCDC114 CCDC114 ENSG00000105479 synonymous SNV synonymous SNV unknown CCDC114:NM_144577:exon14:c.T1908C:p.S636S, CCDC114:uc002pir.2:exon14:c.T1908C:p.S636S,CCDC114:uc002piq.2:exon8:c.T1335C:p.S445S, UNKNOWN Het;A>G 2167;124|95 Ref Hom;A>G 5284;2|193 N N - 19 49102399 49102399 C T snp synonymous SNV C789T C263C polar,hydrophobic,neutral polar,hydrophobic,neutral SULT2B1 Sult2b1 ENSG00000088002 sulfotransferase family 2B member 1 chr19:49055332-49102682 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Myocardial Infarction; breast cancer; drug-related genes ; hepatitis C; Waist Circumference Mice homozygous for a knock-out allele lack cholesterol sulfate in the dermis but otherwise appear to have normal lipid metabolism. Cytosolic sulfonation of small molecules GO:0000103;sulfate assimilation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0008202;steroid metabolic process;IDA|GO:0050427;3'-phosphoadenosine 5'-phosphosulfate metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IMP|GO:0004027;alcohol sulfotransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008146;sulfotransferase activity;IEA|GO:0015485;cholesterol binding;IDA|GO:0016740;transferase activity;IEA|GO:0050294;steroid sulfotransferase activity;TAS|GO:1990239;steroid hormone binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/SULT2B1 https://www.uniprot.org/uniprot/O00204 https://hpo.jax.org/app/browse/search?q=SULT2B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604125 http://www.informatics.jax.org/searchtool/Search.do?query=SULT2B1&submit=Quick%0D%1986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULT2B1 rs1132054 0.36222 0.4546 0.5551 1 0 0 exonic exonic exonic SULT2B1 SULT2B1 ENSG00000088002 synonymous SNV synonymous SNV unknown SULT2B1:NM_004605:exon6:c.C789T:p.C263C,SULT2B1:NM_177973:exon7:c.C834T:p.C278C, SULT2B1:uc002pjl.3:exon7:c.C834T:p.C278C,SULT2B1:uc002pjm.3:exon6:c.C789T:p.C263C, UNKNOWN Het;C>T 652;56|35 Ref Hom;C>T 2240;2|91 N N - 19 49140809 49140809 A C snp upstream;downstream DBP Dbp ENSG00000105516 D-box binding PAR bZIP transcription factor chr19:49133287-49140695 The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014] Kidney Failure, Chronic; chronic obstructive pulmonary disease/COPD; diabetes, type 2; schizophrenia | bipolar disorder; multiple sclerosis; bipolar disorder; Graves' disease; Sleep Disorders; Fractures, Bone|Osteoporosis; obesity; bone density; diabetes, type 1; depression; Fractures, Spontaneous|Osteoporosis, Postmenopausal; null Mice homozygous for a null mutation display a shortened circadian period and decreased acvtivity during the dark phase. BMAL1:CLOCK,NPAS2 activates circadian gene expression GO:0001889;liver development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IBA|GO:0007623;circadian rhythm;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048511;rhythmic process;IEA GO:0005634;nucleus;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBP https://www.uniprot.org/uniprot/Q10586 https://www.ncbi.nlm.nih.gov/omim/?term=124097 http://www.informatics.jax.org/searchtool/Search.do?query=DBP&submit=Quick%0D%3323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBP rs8102492 0.679313 0 0 1 0 0 upstream;downstream upstream;downstream upstream;downstream DBP,SEC1P;CA11 DBP,SEC1P;CA11 ENSG00000105516,ENSG00000232871;ENSG00000063180 Na Na Na Na Na Na Het;A>C 106;12|7 Het;A>C 84;5|5 Hom;A>C 120;0|6 N N - 19 49141406 49141410 AAGAC A indel ncRNA_intronic SEC1P rs137896889 0.421326 0.5585 0.5828 1 0 0 ncRNA_intronic intronic ncRNA_intronic SEC1P CA11,SEC1P ENSG00000232871 Na Na Na Na Na Na Het;-AGAC 1288;59|37 Het;-AGAC 1598;50|43 Hom;-AGAC 4429;0|101 N N - 19 49148781 49148781 C T snp ncRNA_intronic SEC1P rs10426317 0.421526 0.5888 0.6471 1 0 0 ncRNA_intronic intronic ncRNA_intronic SEC1P CA11,SEC1P ENSG00000232871 Na Na Na Na Na Na Het;C>T 2037;70|94 Het;C>T 1250;97|67 Hom;C>T 3532;0|131 N N - 19 49259973 49259973 T G snp intronic FGF21 Fgf21 ENSG00000105550 fibroblast growth factor 21 chr19:49258816-49261587 Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016] Hypertension Mice homozygous for a null allele exhibit decreased circulating glucose levels, oxygen consumption, and gluconeogenesis in fasted mice and increased circulating ketone levels in fed mice. Assembly of active LPL and LIPC lipase complexes GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0010898;positive regulation of triglyceride catabolic process;IEA|GO:0010988;regulation of low-density lipoprotein particle clearance;NAS|GO:0014823;response to activity;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035690;cellular response to drug;IEA|GO:0045716;positive regulation of low-density lipoprotein particle receptor biosynthetic process;NAS|GO:0046326;positive regulation of glucose import;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0072577;endothelial cell apoptotic process;IEA|GO:0090080;positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1904640;response to methionine;IEA|GO:2000352;negative regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FGF21 https://www.uniprot.org/uniprot/Q9NSA1 https://www.ncbi.nlm.nih.gov/omim/?term=609436 http://www.informatics.jax.org/searchtool/Search.do?query=FGF21&submit=Quick%0D%3330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF21 rs35650232 0.394768 0 0 1 0 0 intronic intronic intronic FGF21 FGF21 ENSG00000105550 Na Na Na Na Na Na Het;T>G 121;2|5 Ref Hom;T>G 63;0|2 N N - 19 49377319 49377319 A G snp nonsynonymous SNV A829G K277E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) PPP1R15A Ppp1r15a ENSG00000087074 protein phosphatase 1 regulatory subunit 15A chr19:49375649-49379314 This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; longevity Homozygous mutant mice show abnormal cellular responses to either ER- or oxidative- stress. Downregulation of TGF-beta receptor signaling GO:0006417;regulation of translation;IEA|GO:0006915;apoptotic process;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007050;cell cycle arrest;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0032058;positive regulation of translational initiation in response to stress;IC|GO:0032515;negative regulation of phosphoprotein phosphatase activity;IDA|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0036496;regulation of translational initiation by eIF2 alpha dephosphorylation;IDA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IEA|GO:0060734;regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;TAS|GO:0070262;peptidyl-serine dephosphorylation;IEA|GO:0070972;protein localization to endoplasmic reticulum;IMP|GO:1902310;positive regulation of peptidyl-serine dephosphorylation;IDA|GO:1903573;negative regulation of response to endoplasmic reticulum stress;IEA|GO:1903898;negative regulation of PERK-mediated unfolded protein response;TAS|GO:1903912;negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation;IEA|GO:1903917;positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation;IDA|GO:1990441;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IEA GO:0000164;protein phosphatase type 1 complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;NAS|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IDA|GO:0019888;protein phosphatase regulator activity;IC|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;IEA|GO:0072542;protein phosphatase activator activity;IC http://www.genecards.org/index.php?path=/Search/keyword/PPP1R15A https://www.uniprot.org/uniprot/O75807 https://www.ncbi.nlm.nih.gov/omim/?term=611048 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R15A&submit=Quick%0D%1945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R15A rs610308 0.444888 0.4842 0.3678 0.08 1 13 exonic exonic exonic PPP1R15A PPP1R15A ENSG00000087074 nonsynonymous SNV nonsynonymous SNV unknown PPP1R15A:NM_014330:exon2:c.A829G:p.K277E, PPP1R15A:uc002pky.4:exon2:c.A829G:p.K277E, UNKNOWN Het;A>G 2934;99|120 Ref Hom;A>G 5319;0|188 N N - 19 49416936 49416936 C T snp ncRNA_intronic NUCB1-AS1 rs746075 0.235623 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic NUCB1-AS1 NUCB1 ENSG00000235191 Na Na Na Na Na Na Het;C>T 349;7|11 Ref Hom;C>T 353;0|10 N N - 19 49421966 49421966 T C snp unknown NUCB1 Nucb1 ENSG00000104805 nucleobindin 1 chr19:49403307-49426629 This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010] Attention Deficit Disorder with Hyperactivity Post-translational protein phosphorylation GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0072718;response to cisplatin;IEA|GO:1903533;regulation of protein targeting;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;IEA|GO:0005801;cis-Golgi network;IEA|GO:0005802;trans-Golgi network;IEA|GO:0016020;membrane;IDA|GO:0032580;Golgi cisterna membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0090498;extrinsic component of Golgi membrane;IEA|GO:0098547;lumenal side of Golgi membrane;IEA GO:0001965;G-protein alpha-subunit binding;IEA|GO:0003677;DNA binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUCB1 https://www.uniprot.org/uniprot/Q02818 https://www.ncbi.nlm.nih.gov/omim/?term=601323 http://www.informatics.jax.org/searchtool/Search.do?query=NUCB1&submit=Quick%0D%3166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUCB1 rs2287836 0.611422 0.6478 0.7198 1 0 0 ncRNA_exonic intronic exonic NUCB1-AS1 NUCB1 ENSG00000104805 Na Na unknown Na Na UNKNOWN Het;T>C 496;21|20 Het;T>C 408;16|18 Hom;T>C 1095;0|38 N N - 19 49540093 49540093 A C snp UTR5 -13260T>G AC008687.1 rs10853805 0.649161 0 0 1 0 0 UTR5 UTR5 UTR5 CGB1(NM_033377:c.-125T>G) CGB1(uc002plx.3:c.-125T>G) ENSG00000267335(ENST00000591656:c.-13260T>G,ENST00000604577:c.-125T>G),ENSG00000267631(ENST00000601167:c.-560T>G) Na Na Na Na Na Na Het;A>C 333;25|15 Het;A>C 134;16|7 Hom;A>C 520;0|18 N N - 19 49573438 49573438 A G snp nonsynonymous SNV T1253C M418T hydrophobic,neutral polar,hydrophilic,neutral KCNA7 Kcna7 ENSG00000104848 potassium voltage-gated channel subfamily A member 7 chr19:49570675-49576198 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008] diabetes, type 2 Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNA7 https://www.uniprot.org/uniprot/Q96RP8 https://www.ncbi.nlm.nih.gov/omim/?term=176268 http://www.informatics.jax.org/searchtool/Search.do?query=KCNA7&submit=Quick%0D%3177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNA7 rs1017219 0.366014 0.3853 0.3678 0.31 4 13 exonic exonic exonic KCNA7 KCNA7 ENSG00000104848 nonsynonymous SNV nonsynonymous SNV unknown KCNA7:NM_031886:exon2:c.T1253C:p.M418T, KCNA7:uc002pmg.3:exon2:c.T1253C:p.M418T, UNKNOWN Het;A>G 1460;65|65 Het;A>G 1118;74|55 Hom;A>G 2648;0|98 N N - 19 49574125 49574125 G C snp nonsynonymous SNV C566G P189R hydrophobic,neutral polar,hydrophilic,charged(+) KCNA7 Kcna7 ENSG00000104848 potassium voltage-gated channel subfamily A member 7 chr19:49570675-49576198 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008] diabetes, type 2 Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNA7 https://www.uniprot.org/uniprot/Q96RP8 https://www.ncbi.nlm.nih.gov/omim/?term=176268 http://www.informatics.jax.org/searchtool/Search.do?query=KCNA7&submit=Quick%0D%3177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNA7 rs1611775 0.367212 0.3841 0.3740 0.23 3 13 exonic exonic exonic KCNA7 KCNA7 ENSG00000104848 nonsynonymous SNV nonsynonymous SNV unknown KCNA7:NM_031886:exon2:c.C566G:p.P189R, KCNA7:uc002pmg.3:exon2:c.C566G:p.P189R, UNKNOWN Het;G>C 1050;59|48 Het;G>C 946;43|45 Hom;G>C 2550;0|94 N N - 19 49644858 49644858 A AGT indel intronic PPFIA3 Ppfia3 ENSG00000177380 PTPRF interacting protein alpha 3 chr19:49622646-49654283 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008] Receptor-type tyrosine-protein phosphatases GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS|GO:0048172;regulation of short-term neuronal synaptic plasticity;ISS GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0048786;presynaptic active zone;TAS|GO:0098875;epididymosome;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPFIA3 https://www.ncbi.nlm.nih.gov/omim/?term=603144 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA3&submit=Quick%0D%14014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA3 rs147872140 0 0 0 1 0 0 intronic intronic intronic PPFIA3 PPFIA3 ENSG00000177380 Na Na Na Na Na Na Het;+GT 305;1|10 Ref Hom;+GT 290;0|9 N N - 19 49654421 49654421 C T snp downstream HRC Hrc ENSG00000130528 histidine rich calcium binding protein chr19:49654455-49658681 This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008] Arrhythmias, Cardiac|Cardiomyopathy, Dilated|Death, Sudden, Cardiac| Homozygous mutation of this gene results in impaired weight gain and weight loss around 1 year of age and increased susceptibility to induced cardiac hypertrophy. Post-translational protein phosphorylation GO:0002027;regulation of heart rate;IMP|GO:0006936;muscle contraction;TAS|GO:0008016;regulation of heart contraction;IEA|GO:0010460;positive regulation of heart rate;IGI|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IGI|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0033135;regulation of peptidyl-serine phosphorylation;IGI|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045823;positive regulation of heart contraction;IGI|GO:0051480;regulation of cytosolic calcium ion concentration;IGI|GO:0051481;negative regulation of cytosolic calcium ion concentration;IEA|GO:0055074;calcium ion homeostasis;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;IGI|GO:1901844;regulation of cell communication by electrical coupling involved in cardiac conduction;IGI|GO:1901899;positive regulation of relaxation of cardiac muscle;IGI|GO:1902081;negative regulation of calcium ion import into sarcoplasmic reticulum;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IGI GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030018;Z disc;IDA|GO:0033017;sarcoplasmic reticulum membrane;IEA|GO:0033018;sarcoplasmic reticulum lumen;TAS GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;IPI|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HRC https://www.uniprot.org/uniprot/P23327 https://www.ncbi.nlm.nih.gov/omim/?term=142705 http://www.informatics.jax.org/searchtool/Search.do?query=HRC&submit=Quick%0D%6385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HRC rs2278004 0.42512 0 0 1 0 0 downstream downstream downstream HRC,PPFIA3 HRC,PPFIA3 ENSG00000130528,ENSG00000177380 Na Na Na Na Na Na Het;C>T 367;1|12 Ref Hom;C>T 121;0|4 N N - 19 49794028 49794028 G T snp intronic SLC6A16 Slc6a16 ENSG00000063127 solute carrier family 6 member 16 chr19:49792895-49828482 SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008] GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005622;intracellular;NAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005326;neurotransmitter transporter activity;NAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A16 https://www.uniprot.org/uniprot/Q9GZN6 https://www.ncbi.nlm.nih.gov/omim/?term=607972 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A16&submit=Quick%0D%1098ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A16 rs45549132 0.352636 0.2865 0.3113 1 0 0 intronic intronic intronic SLC6A16 SLC6A16 ENSG00000063127 Na Na Na Na Na Na Het;G>T 660;48|34 Het;G>T 924;43|44 Hom;G>T 2252;0|87 N N - 19 49812403 49812403 G T snp intronic SLC6A16 Slc6a16 ENSG00000063127 solute carrier family 6 member 16 chr19:49792895-49828482 SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008] GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005622;intracellular;NAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005326;neurotransmitter transporter activity;NAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A16 https://www.uniprot.org/uniprot/Q9GZN6 https://www.ncbi.nlm.nih.gov/omim/?term=607972 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A16&submit=Quick%0D%1098ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A16 rs2278405 0.305112 0.2417 0.2575 1 0 0 intronic intronic intronic SLC6A16 SLC6A16 ENSG00000063127 Na Na Na Na Na Na Het;G>T 980;66|40 Het;G>T 1184;33|49 Hom;G>T 3538;0|119 N N - 19 49845895 49845895 C T snp intronic TEAD2 Tead2 ENSG00000074219 TEA domain transcription factor 2 chr19:49843852-49865714 Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a functionally null allele of this gene exhibit no gross abnormalities and are fertile. RUNX3 regulates YAP1-mediated transcription GO:0001570;vasculogenesis;IEA|GO:0001843;neural tube closure;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;IMP|GO:0030903;notochord development;IEA|GO:0035329;hippo signaling;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0048339;paraxial mesoderm development;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0048568;embryonic organ development;IBA|GO:0060548;negative regulation of cell death;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:2000736;regulation of stem cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0071149;TEAD-2-YAP complex;IDA GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001134;transcription factor activity, transcription factor recruiting;IMP|GO:0001223;transcription coactivator binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046982;protein heterodimerization activity;IPI|GO:0097718;disordered domain specific binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/TEAD2 https://www.uniprot.org/uniprot/Q15562 https://www.ncbi.nlm.nih.gov/omim/?term=601729 http://www.informatics.jax.org/searchtool/Search.do?query=TEAD2&submit=Quick%0D%1495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEAD2 rs8108669 0.323283 0.2780 0.2974 1 0 0 intronic intronic intronic TEAD2 TEAD2 ENSG00000074219 Na Na Na Na Na Na Het;C>T 705;42|35 Het;C>T 763;28|33 Hom;C>T 1527;0|57 N N - 19 49869051 49869051 T G snp nonsynonymous SNV T101G M34R hydrophobic,neutral polar,hydrophilic,charged(+) DKKL1 Dkkl1 ENSG00000104901 dickkopf like acrosomal protein 1 chr19:49865040-49878373 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Multiple Sclerosis Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo. GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0004871;signal transducer activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DKKL1 https://www.uniprot.org/uniprot/Q9UK85 https://www.ncbi.nlm.nih.gov/omim/?term=605418 http://www.informatics.jax.org/searchtool/Search.do?query=DKKL1&submit=Quick%0D%38ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKKL1 rs2303759 0.318291 0.2725 0.2947 0.46 6 13 exonic exonic exonic DKKL1 DKKL1 ENSG00000104901 nonsynonymous SNV nonsynonymous SNV unknown DKKL1:NM_001197302:exon4:c.T101G:p.M34R,DKKL1:NM_014419:exon4:c.T326G:p.M109R, DKKL1:uc021uxk.1:exon4:c.T101G:p.M34R,DKKL1:uc002pnk.3:exon4:c.T326G:p.M109R, UNKNOWN Het;T>G 1321;61|55 Het;T>G 1265;62|53 Hom;T>G 3026;4|105 N N - 19 49872085 49872085 G A snp ncRNA_exonic LOC101928295 rs4802597 0.367412 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928295 DKKL1 ENSG00000268686 Na Na Na Na Na Na Het;G>A 729;45|37 Het;G>A 694;29|34 Hom;G>A 2157;0|82 N N - 19 49873279 49873279 A G snp ncRNA_exonic LOC101928295 rs3786562 0.602236 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928295 DKKL1 ENSG00000268686 Na Na Na Na Na Na Het;A>G 1232;51|51 Het;A>G 650;39|30 Hom;A>G 2648;0|94 N N - 19 49878115 49878115 G A snp nonsynonymous SNV G334A G112S aliphatic,neutral polar,hydrophilic,neutral DKKL1 Dkkl1 ENSG00000104901 dickkopf like acrosomal protein 1 chr19:49865040-49878373 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Multiple Sclerosis Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo. GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0004871;signal transducer activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DKKL1 https://www.uniprot.org/uniprot/Q9UK85 https://www.ncbi.nlm.nih.gov/omim/?term=605418 http://www.informatics.jax.org/searchtool/Search.do?query=DKKL1&submit=Quick%0D%38ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKKL1 rs1054770 0.316094 0.2659 0.2958 0.08 1 13 exonic exonic exonic DKKL1 DKKL1 ENSG00000104901 nonsynonymous SNV nonsynonymous SNV unknown DKKL1:NM_001197302:exon5:c.G334A:p.G112S,DKKL1:NM_014419:exon5:c.G559A:p.G187S,DKKL1:NM_001197301:exon4:c.G466A:p.G156S, DKKL1:uc021uxk.1:exon5:c.G334A:p.G112S,DKKL1:uc002pnk.3:exon5:c.G559A:p.G187S,DKKL1:uc021uxl.1:exon4:c.G466A:p.G156S, UNKNOWN Het;G>A 1881;61|72 Het;G>A 1758;64|79 Hom;G>A 3430;2|126 N N - 19 49878196 49878196 G A snp nonsynonymous SNV G415A E139K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) DKKL1 Dkkl1 ENSG00000104901 dickkopf like acrosomal protein 1 chr19:49865040-49878373 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Multiple Sclerosis Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo. GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0045600;positive regulation of fat cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0004871;signal transducer activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DKKL1 https://www.uniprot.org/uniprot/Q9UK85 https://www.ncbi.nlm.nih.gov/omim/?term=605418 http://www.informatics.jax.org/searchtool/Search.do?query=DKKL1&submit=Quick%0D%38ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKKL1 rs2288481 0.258387 0.2204 0.2498 0.38 5 13 exonic exonic exonic DKKL1 DKKL1 ENSG00000104901 nonsynonymous SNV nonsynonymous SNV unknown DKKL1:NM_001197302:exon5:c.G415A:p.E139K,DKKL1:NM_014419:exon5:c.G640A:p.E214K,DKKL1:NM_001197301:exon4:c.G547A:p.E183K, DKKL1:uc021uxk.1:exon5:c.G415A:p.E139K,DKKL1:uc002pnk.3:exon5:c.G640A:p.E214K,DKKL1:uc021uxl.1:exon4:c.G547A:p.E183K, UNKNOWN Het;G>A 2541;95|113 Het;G>A 2461;99|110 Hom;G>A 6218;2|228 N N - 19 49891091 49891091 T C snp ncRNA_exonic LOC101928295 rs35768917 0.317492 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic LOC101928295 CCDC155 ENSG00000268686 Na Na Na Na Na Na Het;T>C 157;2|5 Ref Hom;T>C 209;0|6 N N - 19 49891280 49891280 A G snp ncRNA_exonic LOC101928295 rs7251212 0.542931 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic LOC101928295 CCDC155 ENSG00000268686 Na Na Na Na Na Na Het;A>G 1211;69|58 Het;A>G 1348;56|65 Hom;A>G 2640;0|101 N N - 19 49891314 49891314 C A snp ncRNA_exonic LOC101928295 rs10411630 0.314696 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic LOC101928295 CCDC155 ENSG00000268686 Na Na Na Na Na Na Het;C>A 1082;46|51 Het;C>A 995;44|52 Hom;C>A 1920;0|73 N N - 19 49894027 49894027 T TC indel intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs61018355 0 0 0 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;+C 451;5|12 Het;+C 188;9|6 Hom;+C 188;0|5 N N - 19 49894028 49894028 T C snp intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs57104627 0 0 0 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;T>C 460;5|12 Het;T>C 197;9|6 Hom;T>C 197;0|5 N N - 19 49894152 49894152 C T snp synonymous SNV C12T P4P hydrophobic,neutral hydrophobic,neutral CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs7256629 0.507788 0.4907 0.5113 1 0 0 exonic exonic exonic CCDC155 CCDC155 ENSG00000161609 synonymous SNV synonymous SNV unknown CCDC155:NM_144688:exon2:c.C12T:p.P4P, CCDC155:uc002pnl.2:exon3:c.C12T:p.P4P,CCDC155:uc002pnm.2:exon2:c.C12T:p.P4P, UNKNOWN Het;C>T 1460;57|62 Het;C>T 1276;58|61 Hom;C>T 2999;0|114 N N - 19 49894217 49894217 G T snp intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs7256984 0.507788 0.4867 0.5092 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;G>T 1285;52|62 Het;G>T 944;37|48 Hom;G>T 2003;1|79 N N - 19 49897949 49897949 T C snp intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs4802602 0.630791 0 0 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;T>C 385;11|18 Het;T>C 463;11|20 Hom;T>C 974;0|33 N N - 19 49899076 49899076 G A snp nonsynonymous SNV G386A R129Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs10405154 0.529153 0.5331 0.5963 0.08 1 13 exonic exonic exonic CCDC155 CCDC155 ENSG00000161609 nonsynonymous SNV nonsynonymous SNV unknown CCDC155:NM_144688:exon5:c.G386A:p.R129Q, CCDC155:uc002pnl.2:exon6:c.G386A:p.R129Q,CCDC155:uc002pnm.2:exon5:c.G386A:p.R129Q,CCDC155:uc010emx.2:exon3:c.G305A:p.R102Q, UNKNOWN Het;G>A 724;52|38 Het;G>A 812;43|41 Hom;G>A 2781;0|102 N N - 19 49900877 49900877 A G snp intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs9304688 0.571885 0.5707 0.5459 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;A>G 1129;60|47 Het;A>G 853;56|42 Hom;A>G 2070;2|75 N N - 19 49901125 49901125 C T snp intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs12977735 0.528954 0 0 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;C>T 625;15|22 Het;C>T 150;17|8 Hom;C>T 589;0|18 N N - 19 49901318 49901318 T C snp synonymous SNV T547C L183L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs10421748 0.571885 0.5702 0.5466 1 0 0 exonic exonic exonic CCDC155 CCDC155 ENSG00000161609 synonymous SNV synonymous SNV unknown CCDC155:NM_144688:exon7:c.T547C:p.L183L, CCDC155:uc002pnl.2:exon8:c.T547C:p.L183L,CCDC155:uc002pnm.2:exon7:c.T547C:p.L183L,CCDC155:uc010emx.2:exon5:c.T466C:p.L156L, UNKNOWN Het;T>C 1508;52|67 Het;T>C 826;63|40 Hom;T>C 2413;0|86 N N - 19 49901484 49901484 T C snp intronic CCDC155 Ccdc155 ENSG00000161609 coiled-coil domain containing 155 chr19:49891475-49921251 Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks. GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0007015;actin filament organization;IEA|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0034397;telomere localization;IEA|GO:0048477;oogenesis;IEA|GO:0051225;spindle assembly;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0090220;chromosome localization to nuclear envelope involved in homologous chromosome segregation;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034993;LINC complex;IEA|GO:0090619;meiotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC155 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC155&submit=Quick%0D%10587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC155 rs12980364 0.630192 0 0 1 0 0 intronic intronic intronic CCDC155 CCDC155 ENSG00000161609 Na Na Na Na Na Na Het;T>C 133;4|5 Het;T>C 203;4|8 Hom;T>C 350;0|11 N N - 19 50321981 50321981 G C snp intronic MED25 Med25 ENSG00000104973 mediator complex subunit 25 chr19:50321539-50342073 This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B2 Transcriptional regulation of white adipocyte differentiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0035563;positive regulation of chromatin binding;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048147;negative regulation of fibroblast proliferation;IMP|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:2001178;positive regulation of mediator complex assembly;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0044798;nuclear transcription factor complex;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0042974;retinoic acid receptor binding;IPI|GO:0046965;retinoid X receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MED25 https://www.uniprot.org/uniprot/Q71SY5 https://hpo.jax.org/app/browse/search?q=MED25&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610197 http://www.informatics.jax.org/searchtool/Search.do?query=MED25&submit=Quick%0D%3218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED25 rs1674132 0.549521 0 0 1 0 0 intronic intronic intronic MED25 MED25 ENSG00000104973 Na Na Na Na Na Na Het;G>C 153;16|8 Ref Hom;G>C 202;0|8 N N - 19 50331678 50331679 CT C indel intronic MED25 Med25 ENSG00000104973 mediator complex subunit 25 chr19:50321539-50342073 This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B2 Transcriptional regulation of white adipocyte differentiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0035563;positive regulation of chromatin binding;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048147;negative regulation of fibroblast proliferation;IMP|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:2001178;positive regulation of mediator complex assembly;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0044798;nuclear transcription factor complex;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0042974;retinoic acid receptor binding;IPI|GO:0046965;retinoid X receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MED25 https://www.uniprot.org/uniprot/Q71SY5 https://hpo.jax.org/app/browse/search?q=MED25&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610197 http://www.informatics.jax.org/searchtool/Search.do?query=MED25&submit=Quick%0D%3218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED25 rs5828413 0.516374 0.5210 0.5368 1 0 0 intronic intronic intronic MED25 MED25 ENSG00000104973 Na Na Na Na Na Na Het;-T 340;20|12 Ref Hom;-T 1193;0|32 N N - 19 50335872 50335872 A G snp intronic MED25 Med25 ENSG00000104973 mediator complex subunit 25 chr19:50321539-50342073 This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B2 Transcriptional regulation of white adipocyte differentiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0035563;positive regulation of chromatin binding;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048147;negative regulation of fibroblast proliferation;IMP|GO:0071158;positive regulation of cell cycle arrest;IMP|GO:2001178;positive regulation of mediator complex assembly;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0044798;nuclear transcription factor complex;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0042974;retinoic acid receptor binding;IPI|GO:0046965;retinoid X receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MED25 https://www.uniprot.org/uniprot/Q71SY5 https://hpo.jax.org/app/browse/search?q=MED25&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610197 http://www.informatics.jax.org/searchtool/Search.do?query=MED25&submit=Quick%0D%3218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED25 rs1290652 0.552716 0 0 1 0 0 intronic intronic intronic MED25 MED25 ENSG00000104973 Na Na Na Na Na Na Het;A>G 251;7|9 Ref Hom;A>G 291;0|8 N N - 19 50358170 50358170 T C snp ncRNA_intronic AC018766.1 rs1290657 0.738818 0.7080 0.7066 1 0 0 intronic intronic ncRNA_intronic PTOV1 PTOV1 ENSG00000268047 Na Na Na Na Na Na Het;T>C 834;44|35 Ref Hom;T>C 2113;0|65 N N - 19 5041316 5041316 T G snp intronic KDM4B Kdm4b ENSG00000127663 lysine demethylase 4B chr19:4969125-5153606 Iron; Tobacco Use Disorder; Heart Rate Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4B https://www.uniprot.org/uniprot/O94953 https://www.ncbi.nlm.nih.gov/omim/?term=609765 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B rs2240679 0.300919 0 0 1 0 0 intronic intronic intronic KDM4B KDM4B ENSG00000127663 Na Na Na Na Na Na Het;T>G 1649;40|73 Het;T>G 1505;53|66 Hom;T>G 2137;0|72 N N - 19 505071 505071 T C snp UTR3 *106T>C MADCAM1 ENSG00000099866 mucosal vascular addressin cell adhesion molecule 1 chr19:489176-505347 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] cholangitis, sclerosing; Graft vs Host Disease Mice homozygous for a knock-out allele exhibit small Peyer's patches and decreased homing of IgA-secreting plasma cells in the lamina propria. Integrin cell surface interactions GO:0002687;positive regulation of leukocyte migration;IBA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IDA|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;IDA|GO:0007568;aging;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0034113;heterotypic cell-cell adhesion;IMP|GO:0043113;receptor clustering;IDA|GO:0050776;regulation of immune response;TAS|GO:0050901;leukocyte tethering or rolling;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0098640;integrin binding involved in cell-matrix adhesion;IDA http://www.genecards.org/index.php?path=/Search/keyword/MADCAM1 https://www.uniprot.org/uniprot/Q13477 https://www.ncbi.nlm.nih.gov/omim/?term=102670 http://www.informatics.jax.org/searchtool/Search.do?query=MADCAM1&submit=Quick%0D%2345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MADCAM1 rs1140823 0.632987 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic MADCAM1(NM_130762:c.*106T>C,NM_130760:c.*106T>C) MADCAM1(uc002los.3:c.*106T>C,uc002lot.3:c.*106T>C,uc010drq.3:c.*106T>C) ENSG00000266933 Na Na Na Na Na Na Het;T>C 420;6|12 Het;T>C 101;9|4 Hom;T>C 270;0|7 N N - 19 50760934 50760934 A G snp intronic MYH14 Myh14 ENSG00000105357 myosin heavy chain 14 chr19:50691443-50813802 This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence. RHO GTPases activate PAKs GO:0003009;skeletal muscle contraction;IMP|GO:0007519;skeletal muscle tissue development;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008360;regulation of cell shape;IEA|GO:0019228;neuronal action potential;IMP|GO:0030048;actin filament-based movement;IEA|GO:0031032;actomyosin structure organization;IDA|GO:0070584;mitochondrion morphogenesis;IMP|GO:0071625;vocalization behavior;IMP GO:0001725;stress fiber;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0016460;myosin II complex;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042641;actomyosin;IDA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0097513;myosin II filament;IDA GO:0000146;microfilament motor activity;IEA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IDA|GO:0030898;actin-dependent ATPase activity;IDA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MYH14 https://www.uniprot.org/uniprot/Q7Z406 https://hpo.jax.org/app/browse/search?q=MYH14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608568 http://www.informatics.jax.org/searchtool/Search.do?query=MYH14&submit=Quick%0D%3281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH14 rs393368 0.572684 0 0 1 0 0 intronic intronic intronic MYH14 MYH14 ENSG00000105357 Na Na Na Na Na Na Het;A>G 81;3|3 Het;A>G 70;7|3 Hom;A>G 106;0|4 N N - 19 51070306 51070306 G C snp intronic LRRC4B Lrrc4b ENSG00000131409 leucine rich repeat containing 4B chr19:51020149-51071302 Body Mass Index; Platelet Count Receptor-type tyrosine-protein phosphatases GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0051965;positive regulation of synapse assembly;ISS GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0044300;cerebellar mossy fiber;IEA|GO:0045202;synapse;IEA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRRC4B https://www.uniprot.org/uniprot/Q9NT99 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC4B&submit=Quick%0D%6539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC4B rs2892238 0.689896 0 0 1 0 0 intronic intronic intronic LRRC4B LRRC4B ENSG00000131409 Na Na Na Na Na Na Het;G>C 121;5|6 Het;G>C 43;2|2 Hom;G>C 98;0|3 N N - 19 5108117 5108117 T C snp intronic KDM4B Kdm4b ENSG00000127663 lysine demethylase 4B chr19:4969125-5153606 Iron; Tobacco Use Disorder; Heart Rate Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4B https://www.uniprot.org/uniprot/O94953 https://www.ncbi.nlm.nih.gov/omim/?term=609765 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B rs1010466 0.45607 0 0 1 0 0 intronic intronic intronic KDM4B KDM4B ENSG00000127663 Na Na Na Na Na Na Het;T>C 34;2|2 Ref Hom;T>C 94;0|4 N N - 19 5119422 5119422 G A snp intronic KDM4B Kdm4b ENSG00000127663 lysine demethylase 4B chr19:4969125-5153606 Iron; Tobacco Use Disorder; Heart Rate Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4B https://www.uniprot.org/uniprot/O94953 https://www.ncbi.nlm.nih.gov/omim/?term=609765 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B rs2291145 0.273163 0 0 1 0 0 intronic intronic intronic KDM4B KDM4B ENSG00000127663 Na Na Na Na Na Na Het;G>A 53;2|4 Ref Hom;G>A 45;0|3 N N - 19 5119544 5119544 C T snp intronic KDM4B Kdm4b ENSG00000127663 lysine demethylase 4B chr19:4969125-5153606 Iron; Tobacco Use Disorder; Heart Rate Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4B https://www.uniprot.org/uniprot/O94953 https://www.ncbi.nlm.nih.gov/omim/?term=609765 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B rs2256523 0.340855 0 0 1 0 0 intronic intronic intronic KDM4B KDM4B ENSG00000127663 Na Na Na Na Na Na Het;C>T 220;5|8 Ref Hom;C>T 172;0|5 N N - 19 5134096 5134096 C T snp intronic KDM4B Kdm4b ENSG00000127663 lysine demethylase 4B chr19:4969125-5153606 Iron; Tobacco Use Disorder; Heart Rate Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IEA|GO:0033169;histone H3-K9 demethylation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;IEA|GO:0032454;histone demethylase activity (H3-K9 specific);IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4B https://www.uniprot.org/uniprot/O94953 https://www.ncbi.nlm.nih.gov/omim/?term=609765 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4B&submit=Quick%0D%6062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4B rs2251561 0.320288 0.2518 0.2730 1 0 0 intronic intronic intronic KDM4B KDM4B ENSG00000127663 Na Na Na Na Na Na Het;C>T 539;51|28 Het;C>T 523;32|28 Hom;C>T 1481;0|51 N N - 19 51447065 51447065 T C snp intronic KLK5 Klk5 ENSG00000167754 kallikrein related peptidase 5 chr19:51446559-51456349 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] prostate cancer Formation of the cornified envelope GO:0002803;positive regulation of antibacterial peptide production;IMP|GO:0006508;proteolysis;IEA|GO:0008544;epidermis development;TAS|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0070268;cornification;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IMP|GO:0005829;cytosol;TAS|GO:0097209;epidermal lamellar body;IDA GO:0004175;endopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;TAS|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLK5 https://www.ncbi.nlm.nih.gov/omim/?term=605643 http://www.informatics.jax.org/searchtool/Search.do?query=KLK5&submit=Quick%0D%12102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK5 rs1701949 0.808706 0.7062 0.7021 1 0 0 intronic intronic intronic KLK5 KLK5 ENSG00000167754 Na Na Na Na Na Na Het;T>C 1017;40|47 Het;T>C 644;44|33 Hom;T>C 1835;0|69 N N - 19 51519364 51519364 T G snp synonymous SNV A318C G106G aliphatic,neutral aliphatic,neutral KLK10 Klk10 ENSG00000129451 kallikrein related peptidase 10 chr19:51515995-51523431 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] ovarian cancer; prostate cancer; prostate breast testicular and ovarian cancers; breast cancer; prostate cancer; testicular cancer; ovarian cancer; epithelial ovarian cancer GO:0006508;proteolysis;IEA|GO:0007049;cell cycle;IEA GO:0005576;extracellular region;TAS GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLK10 https://www.uniprot.org/uniprot/O43240 https://www.ncbi.nlm.nih.gov/omim/?term=602673 http://www.informatics.jax.org/searchtool/Search.do?query=KLK10&submit=Quick%0D%6248ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK10 rs2075688 0.689097 0.7202 0.6385 1 0 0 exonic exonic exonic KLK10 KLK10 ENSG00000129451 synonymous SNV synonymous SNV unknown KLK10:NM_001077500:exon4:c.A318C:p.G106G,KLK10:NM_145888:exon4:c.A318C:p.G106G,KLK10:NM_002776:exon4:c.A318C:p.G106G, KLK10:uc002puz.3:exon4:c.A318C:p.G106G,KLK10:uc002pva.3:exon4:c.A318C:p.G106G,KLK10:uc002puy.3:exon4:c.A318C:p.G106G, UNKNOWN Het;T>G 2256;93|100 Ref Hom;T>G 5364;0|201 N N - 19 51520487 51520487 A C snp nonsynonymous SNV T148G S50A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KLK10 Klk10 ENSG00000129451 kallikrein related peptidase 10 chr19:51515995-51523431 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] ovarian cancer; prostate cancer; prostate breast testicular and ovarian cancers; breast cancer; prostate cancer; testicular cancer; ovarian cancer; epithelial ovarian cancer GO:0006508;proteolysis;IEA|GO:0007049;cell cycle;IEA GO:0005576;extracellular region;TAS GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLK10 https://www.uniprot.org/uniprot/O43240 https://www.ncbi.nlm.nih.gov/omim/?term=602673 http://www.informatics.jax.org/searchtool/Search.do?query=KLK10&submit=Quick%0D%6248ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK10 rs3745535 0.694289 0.7364 0.6449 0.17 2 12 exonic exonic exonic KLK10 KLK10 ENSG00000129451 nonsynonymous SNV nonsynonymous SNV unknown KLK10:NM_001077500:exon3:c.T148G:p.S50A,KLK10:NM_145888:exon3:c.T148G:p.S50A,KLK10:NM_002776:exon3:c.T148G:p.S50A, KLK10:uc002puz.3:exon3:c.T148G:p.S50A,KLK10:uc002pva.3:exon3:c.T148G:p.S50A,KLK10:uc002puy.3:exon3:c.T148G:p.S50A, UNKNOWN Het;A>C 1394;81|67 Ref Hom;A>C 3470;0|133 N N - 19 51522291 51522291 G C snp intronic KLK10 Klk10 ENSG00000129451 kallikrein related peptidase 10 chr19:51515995-51523431 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] ovarian cancer; prostate cancer; prostate breast testicular and ovarian cancers; breast cancer; prostate cancer; testicular cancer; ovarian cancer; epithelial ovarian cancer GO:0006508;proteolysis;IEA|GO:0007049;cell cycle;IEA GO:0005576;extracellular region;TAS GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLK10 https://www.uniprot.org/uniprot/O43240 https://www.ncbi.nlm.nih.gov/omim/?term=602673 http://www.informatics.jax.org/searchtool/Search.do?query=KLK10&submit=Quick%0D%6248ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK10 rs2304157 0.678714 0.6169 0.6551 1 0 0 intronic intronic intronic KLK10 KLK10 ENSG00000129451 Na Na Na Na Na Na Het;G>C 421;28|18 Ref Hom;G>C 694;0|25 N N - 19 51560195 51560195 T C snp intronic KLK13 Klk13 ENSG00000167759 kallikrein related peptidase 13 chr19:51559463-51568371 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] prostate cancer Formation of the cornified envelope GO:0006508;proteolysis;IEA|GO:0016485;protein processing;IBA|GO:0070268;cornification;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0030141;secretory granule;IEA|GO:0070062;extracellular exosome;IDA GO:0004175;endopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/KLK13 https://www.ncbi.nlm.nih.gov/omim/?term=605505 http://www.informatics.jax.org/searchtool/Search.do?query=KLK13&submit=Quick%0D%12105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK13 rs10416060 0.258387 0 0 1 0 0 intronic intronic intronic KLK13 KLK13 ENSG00000167759 Na Na Na Na Na Na Het;T>C 88;3|4 Ref Hom;T>C 192;0|6 N N - 19 51688815 51688815 T G snp ncRNA_exonic SIGLEC20P rs59266985 0.181709 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928517(dist=3593),MIR8074(dist=21370) BC045766(dist=3593),CD33(dist=39520) ENSG00000268336 Na Na Na Na Na Na Het;T>G 829;15|36 Ref Hom;T>G 1750;0|68 N N - 19 51688842 51688842 G C snp ncRNA_exonic SIGLEC20P rs10404091 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928517(dist=3620),MIR8074(dist=21343) BC045766(dist=3620),CD33(dist=39493) ENSG00000268336 Na Na Na Na Na Na Het;G>C 1165;24|53 Ref Hom;G>C 2118;0|83 N N - 19 51689088 51689088 T C snp ncRNA_intronic SIGLEC20P rs10405784 0.33147 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101928517(dist=3866),MIR8074(dist=21097) BC045766(dist=3866),CD33(dist=39247) ENSG00000268336 Na Na Na Na Na Na Het;T>C 270;14|10 Ref Hom;T>C 430;0|14 N N - 19 51689204 51689204 A C snp ncRNA_exonic SIGLEC20P rs10404245 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928517(dist=3982),MIR8074(dist=20981) BC045766(dist=3982),CD33(dist=39131) ENSG00000268336 Na Na Na Na Na Na Het;A>C 1289;50|61 Ref Hom;A>C 2643;0|103 N N - 19 51689959 51689959 C T snp ncRNA_intronic SIGLEC20P rs67836621 0.197284 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101928517(dist=4737),MIR8074(dist=20226) BC045766(dist=4737),CD33(dist=38376) ENSG00000268336 Na Na Na Na Na Na Het;C>T 39;2|2 Ref Hom;C>T 169;0|5 N N - 19 51694100 51694100 A G snp downstream SIGLEC20P rs7245847 0.264177 0 0 1 0 0 intergenic intergenic downstream LOC101928517(dist=8878),MIR8074(dist=16085) BC045766(dist=8878),CD33(dist=34235) ENSG00000268336 Na Na Na Na Na Na Het;A>G 142;10|7 Ref Hom;A>G 520;0|19 N N - 19 51739226 51739226 A G snp UTR3 *140A>G CD33 Siglecf ENSG00000105383 CD33 molecule chr19:51728320-51747115 Tobacco Use Disorder; Leukemia, Myeloid, Acute|Neoplasm, Residual; Alzheimer Disease; Alzheimer's disease Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation. Neutrophil degranulation GO:0007155;cell adhesion;NAS|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0050776;regulation of immune response;TAS GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD33 https://www.uniprot.org/uniprot/P20138 https://www.ncbi.nlm.nih.gov/omim/?term=159590 http://www.informatics.jax.org/searchtool/Search.do?query=CD33&submit=Quick%0D%3292ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD33 rs10409348 0.546526 0 0 1 0 0 intronic UTR3 UTR3 CD33 CD33(uc010eos.1:c.*140A>G) ENSG00000105383(ENST00000436584:c.*199A>G) Na Na Na Na Na Na Het;A>G 159;3|5 Ref Hom;A>G 228;0|6 N N - 19 51767205 51767205 C T snp UTR5 -122C>T SIGLECL1 Gm2511 ENSG00000179213 SIGLEC family like 1 chr19:51749603-51772584 Mice homozygous for a knock-out allele or a knock-in allele that destroys the sialic acid binding site exhibit increased neutrophil and macrophage recruitment in an LPS-induced model of acute lung ariway inflammation. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIGLECL1 http://www.informatics.jax.org/searchtool/Search.do?query=SIGLECL1&submit=Quick%0D%14309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLECL1 rs6509523 0.576478 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic SIGLECL1(NM_173635:c.-122C>T) SIGLECL1(uc002pwb.1:c.-122C>T,uc010ycw.1:c.-122C>T) ENSG00000268595 Na Na Na Na Na Na Het;C>T 1074;67|51 Ref Hom;C>T 2439;0|84 N N - 19 51767485 51767485 A G snp ncRNA_intronic AC063977.3 rs875283 0.594449 0 0 1 0 0 intronic intronic ncRNA_intronic SIGLECL1 SIGLECL1 ENSG00000268595 Na Na Na Na Na Na Het;A>G 151;4|6 Ref Hom;A>G 261;0|8 N N - 19 51774396 51774396 T G snp ncRNA_exonic AC063977.3 rs7249916 0.224641 0 0 1 0 0 intergenic intergenic ncRNA_exonic SIGLECL1(dist=1814),IGLON5(dist=40706) SIGLECL1(dist=1814),IGLON5(dist=40706) ENSG00000268595 Na Na Na Na Na Na Het;T>G 333;6|12 Ref Hom;T>G 436;0|13 N N - 19 51774538 51774538 A G snp ncRNA_exonic LINC01872 rs7249149 0.227636 0 0 1 0 0 intergenic intergenic ncRNA_exonic SIGLECL1(dist=1956),IGLON5(dist=40564) SIGLECL1(dist=1956),IGLON5(dist=40564) ENSG00000268318 Na Na Na Na Na Na Het;A>G 1739;63|74 Ref Hom;A>G 3441;2|125 N N - 19 51774613 51774613 G A snp ncRNA_exonic LINC01872 rs7249595 0.227037 0 0 1 0 0 intergenic intergenic ncRNA_exonic SIGLECL1(dist=2031),IGLON5(dist=40489) SIGLECL1(dist=2031),IGLON5(dist=40489) ENSG00000268318 Na Na Na Na Na Na Het;G>A 1829;80|83 Ref Hom;G>A 3861;2|146 N N - 19 51774806 51774806 C T snp ncRNA_exonic LINC01872 rs10408324 0.225439 0 0 1 0 0 intergenic intergenic ncRNA_exonic SIGLECL1(dist=2224),IGLON5(dist=40296) SIGLECL1(dist=2224),IGLON5(dist=40296) ENSG00000268318 Na Na Na Na Na Na Het;C>T 909;28|36 Ref Hom;C>T 2138;0|79 N N - 19 51820101 51820101 T C snp intronic IGLON5 Iglon5 ENSG00000142549 IgLON family member 5 chr19:51815102-51833608 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGLON5 https://www.uniprot.org/uniprot/A6NGN9 http://www.informatics.jax.org/searchtool/Search.do?query=IGLON5&submit=Quick%0D%8301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLON5 rs8103884 0.605431 0 0 1 0 0 intronic intronic intronic IGLON5 IGLON5 ENSG00000142549 Na Na Na Na Na Na Het;T>C 79;3|4 Het;T>C 127;2|6 Hom;T>C 247;0|10 N N - 19 51828487 51828487 T C snp intronic IGLON5 Iglon5 ENSG00000142549 IgLON family member 5 chr19:51815102-51833608 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGLON5 https://www.uniprot.org/uniprot/A6NGN9 http://www.informatics.jax.org/searchtool/Search.do?query=IGLON5&submit=Quick%0D%8301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLON5 rs10403450 0.563898 0 0 1 0 0 intronic intronic intronic IGLON5 IGLON5 ENSG00000142549 Na Na Na Na Na Na Het;T>C 399;15|15 Het;T>C 198;12|8 Hom;T>C 583;0|19 N N - 19 51828848 51828848 G A snp intronic IGLON5 Iglon5 ENSG00000142549 IgLON family member 5 chr19:51815102-51833608 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGLON5 https://www.uniprot.org/uniprot/A6NGN9 http://www.informatics.jax.org/searchtool/Search.do?query=IGLON5&submit=Quick%0D%8301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLON5 rs12979633 0.121605 0 0 1 0 0 intronic intronic intronic IGLON5 IGLON5 ENSG00000142549 Na Na Na Na Na Na Het;G>A 352;2|13 Ref Hom;G>A 490;0|15 N N - 19 51843162 51843162 G A snp intronic VSIG10L Vsig10l ENSG00000186806 V-set and immunoglobulin domain containing 10 like chr19:51834790-51845378 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/VSIG10L http://www.informatics.jax.org/searchtool/Search.do?query=VSIG10L&submit=Quick%0D%15710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSIG10L rs12982441 0.318291 0 0 1 0 0 intronic intronic intronic VSIG10L VSIG10L ENSG00000186806 Na Na Na Na Na Na Het;G>A 76;6|5 Ref Hom;G>A 184;0|8 N N - 19 51850290 51850290 G A snp nonsynonymous SNV C461T T154M polar,hydrophilic,neutral hydrophobic,neutral ETFB Etfb ENSG00000105379 electron transfer flavoprotein beta subunit chr19:51848423-51869672 This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Lipid Metabolism Disorders|Muscular Diseases Protein methylation GO:0006479;protein methylation;TAS|GO:0022904;respiratory electron transport chain;TAS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ETFB https://www.uniprot.org/uniprot/P38117 https://hpo.jax.org/app/browse/search?q=ETFB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=130410 http://www.informatics.jax.org/searchtool/Search.do?query=ETFB&submit=Quick%0D%3291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETFB rs1130426 0.419728 0.5418 0.4980 0.62 8 13 exonic exonic exonic ETFB ETFB ENSG00000105379 nonsynonymous SNV nonsynonymous SNV unknown ETFB:NM_001014763:exon4:c.C734T:p.T245M,ETFB:NM_001985:exon5:c.C461T:p.T154M, ETFB:uc002pwh.3:exon5:c.C461T:p.T154M,ETFB:uc002pwg.3:exon4:c.C734T:p.T245M, UNKNOWN Het;G>A 815;36|38 Het;G>A 858;58|45 Hom;G>A 2803;0|106 N N - 19 51856619 51856619 T C snp intronic ETFB Etfb ENSG00000105379 electron transfer flavoprotein beta subunit chr19:51848423-51869672 This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Lipid Metabolism Disorders|Muscular Diseases Protein methylation GO:0006479;protein methylation;TAS|GO:0022904;respiratory electron transport chain;TAS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ETFB https://www.uniprot.org/uniprot/P38117 https://hpo.jax.org/app/browse/search?q=ETFB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=130410 http://www.informatics.jax.org/searchtool/Search.do?query=ETFB&submit=Quick%0D%3291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETFB rs2004309 0.776358 0 0 1 0 0 intronic intronic intronic ETFB ETFB ENSG00000105379,ENSG00000269403 Na Na Na Na Na Na Het;T>C 1393;32|40 Ref Hom;T>C 2230;0|55 N N - 19 51856631 51856631 G A snp intronic ETFB Etfb ENSG00000105379 electron transfer flavoprotein beta subunit chr19:51848423-51869672 This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Lipid Metabolism Disorders|Muscular Diseases Protein methylation GO:0006479;protein methylation;TAS|GO:0022904;respiratory electron transport chain;TAS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ETFB https://www.uniprot.org/uniprot/P38117 https://hpo.jax.org/app/browse/search?q=ETFB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=130410 http://www.informatics.jax.org/searchtool/Search.do?query=ETFB&submit=Quick%0D%3291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETFB rs3889312 0.775359 0 0 1 0 0 intronic intronic intronic ETFB ETFB ENSG00000105379,ENSG00000269403 Na Na Na Na Na Na Het;G>A 1126;29|28 Ref Hom;G>A 1887;0|42 N N - 19 51856641 51856641 G C snp intronic ETFB Etfb ENSG00000105379 electron transfer flavoprotein beta subunit chr19:51848423-51869672 This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Lipid Metabolism Disorders|Muscular Diseases Protein methylation GO:0006479;protein methylation;TAS|GO:0022904;respiratory electron transport chain;TAS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ETFB https://www.uniprot.org/uniprot/P38117 https://hpo.jax.org/app/browse/search?q=ETFB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=130410 http://www.informatics.jax.org/searchtool/Search.do?query=ETFB&submit=Quick%0D%3291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETFB rs3889313 0.776158 0 0 1 0 0 intronic intronic intronic ETFB ETFB ENSG00000105379,ENSG00000269403 Na Na Na Na Na Na Het;G>C 1017;23|25 Ref Hom;G>C 1592;0|34 N N - 19 518686 518686 A G snp intronic TPGS1 Tpgs1 ENSG00000141933 tubulin polyglutamylase complex subunit 1 chr19:507299-519654 Male mice homozygous for a gene trapped allele are sterile due to abnormal development of the spermatid flagellum. Adult males display a striking deficit in intermale aggression and reduced body fat, not due to an altered resting metabolic rate or hypophagia. Carboxyterminal post-translational modifications of tubulin GO:0007268;chemical synaptic transmission;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0018095;protein polyglutamylation;IEA|GO:0030154;cell differentiation;IEA|GO:0030534;adult behavior;IEA|GO:0051648;vesicle localization;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA GO:0008017;microtubule binding;IEA|GO:0015631;tubulin binding;IEA|GO:0070740;tubulin-glutamic acid ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPGS1 https://www.uniprot.org/uniprot/Q6ZTW0 http://www.informatics.jax.org/searchtool/Search.do?query=TPGS1&submit=Quick%0D%8231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPGS1 rs4919838 0.644768 0 0 1 0 0 intronic intronic intronic TPGS1 TPGS1 ENSG00000141933 Na Na Na Na Na Na Het;A>G 114;8|5 Het;A>G 48;5|3 Hom;A>G 357;0|11 N N - 19 51869346 51869346 G A snp intronic ETFB Etfb ENSG00000105379 electron transfer flavoprotein beta subunit chr19:51848423-51869672 This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Lipid Metabolism Disorders|Muscular Diseases Protein methylation GO:0006479;protein methylation;TAS|GO:0022904;respiratory electron transport chain;TAS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ETFB https://www.uniprot.org/uniprot/P38117 https://hpo.jax.org/app/browse/search?q=ETFB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=130410 http://www.informatics.jax.org/searchtool/Search.do?query=ETFB&submit=Quick%0D%3291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETFB rs3786625 0.366214 0 0 1 0 0 intronic intronic intronic ETFB ETFB ENSG00000105379,ENSG00000269403 Na Na Na Na Na Na Het;G>A 38;2|2 Ref Hom;G>A 152;0|5 N N - 19 51871195 51871195 G A snp synonymous SNV C255T C85C polar,hydrophobic,neutral polar,hydrophobic,neutral CLDND2 Cldnd2 ENSG00000160318 claudin domain containing 2 chr19:51870352-51872257 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLDND2 http://www.informatics.jax.org/searchtool/Search.do?query=CLDND2&submit=Quick%0D%10451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLDND2 rs3745403 0.193291 0.3001 0.3296 1 0 0 exonic exonic exonic CLDND2 CLDND2 ENSG00000160318,ENSG00000269403 synonymous SNV synonymous SNV unknown CLDND2:NM_152353:exon2:c.C255T:p.C85C, CLDND2:uc002pwi.1:exon2:c.C255T:p.C85C, UNKNOWN Het;G>A 2764;138|127 Ref Hom;G>A 5566;2|205 N N - 19 52095083 52095083 A G snp ncRNA_exonic LINC01530 rs4802820 0.525559 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01530 AX748312 ENSG00000167765(ENST00000301439:c.*806T>C) Na Na Na Na Na Na Het;A>G 485;11|13 Het;A>G 212;11|7 Hom;A>G 1556;0|37 N N - 19 52095107 52095107 C T snp ncRNA_exonic LINC01530 rs4802821 0.599241 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01530 AX748312 ENSG00000167765(ENST00000301439:c.*782G>A) Na Na Na Na Na Na Het;C>T 362;10|9 Het;C>T 149;10|5 Hom;C>T 987;0|19 N N - 19 52095228 52095228 G A snp ncRNA_exonic LINC01530 rs7259387 0.838658 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01530 AX748312 ENSG00000167765(ENST00000301439:c.*661C>T) Na Na Na Na Na Na Het;G>A 201;7|8 Het;G>A 108;1|4 Hom;G>A 219;0|6 N N - 19 52095264 52095264 C G snp ncRNA_exonic LINC01530 rs7259184 0.808307 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01530 AX748312 ENSG00000167765(ENST00000301439:c.*625G>C) Na Na Na Na Na Na Het;C>G 335;7|14 Het;C>G 177;2|8 Hom;C>G 314;0|13 N N - 19 52095577 52095577 A G snp ncRNA_exonic LINC01530 rs7259469 0.842652 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 LINC01530 AX748312 ENSG00000167765(ENST00000301439:c.*312T>C) Na Na Na Na Na Na Het;A>G 663;42|28 Het;A>G 1181;36|48 Hom;A>G 1794;0|62 N N - 19 52101918 52101918 T C snp ncRNA_exonic AC018755.3 rs1868947 0.727835 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01530(dist=4285),SIGLEC5(dist=12838) FLJ30403(dist=4285),SIGLEC5(dist=12838) ENSG00000269388 Na Na Na Na Na Na Het;T>C 209;15|11 Ref Hom;T>C 642;0|24 N N - 19 52104489 52104489 C G snp ncRNA_exonic AC018755.3 rs8113451 0.63778 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01530(dist=6856),SIGLEC5(dist=10267) FLJ30403(dist=6856),SIGLEC5(dist=10267) ENSG00000269388 Na Na Na Na Na Na Het;C>G 923;12|37 Het;C>G 728;21|29 Hom;C>G 1229;0|45 N N - 19 52104560 52104560 T C snp ncRNA_exonic AC018755.3 rs3752127 0.914936 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01530(dist=6927),SIGLEC5(dist=10196) FLJ30403(dist=6927),SIGLEC5(dist=10196) ENSG00000269388 Na Na Na Na Na Na Het;T>C 832;16|35 Het;T>C 988;11|45 Hom;T>C 937;0|32 N N - 19 52104713 52104713 G C snp ncRNA_exonic AC018755.3 rs3752126 0.872604 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01530(dist=7080),SIGLEC5(dist=10043) FLJ30403(dist=7080),SIGLEC5(dist=10043) ENSG00000269388 Na Na Na Na Na Na Het;G>C 423;10|20 Het;G>C 507;4|22 Hom;G>C 550;0|21 N N - 19 52220077 52220077 C T snp intronic HAS1 Has1 ENSG00000105509 hyaluronan synthase 1 chr19:52216365-52227247 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] macroglobulinemia Mice homozygous for a knock-out allele are viable and appear grossly normal. Hyaluronan biosynthesis and export GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0007155;cell adhesion;TAS|GO:0010764;negative regulation of fibroblast migration;IMP|GO:0030213;hyaluronan biosynthetic process;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IDA|GO:0044849;estrous cycle;IEA|GO:0045226;extracellular polysaccharide biosynthetic process;IEA|GO:0085029;extracellular matrix assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050501;hyaluronan synthase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAS1 https://www.uniprot.org/uniprot/Q92839 https://www.ncbi.nlm.nih.gov/omim/?term=601463 http://www.informatics.jax.org/searchtool/Search.do?query=HAS1&submit=Quick%0D%3321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAS1 rs11084110 0.691094 0 0 1 0 0 intronic intronic intronic HAS1 HAS1 ENSG00000105509 Na Na Na Na Na Na Het;C>T 44;2|2 Ref Hom;C>T 147;0|5 N N - 19 52223121 52223121 A G snp nonsynonymous SNV T61C C21R polar,hydrophobic,neutral polar,hydrophilic,charged(+) HAS1 Has1 ENSG00000105509 hyaluronan synthase 1 chr19:52216365-52227247 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] macroglobulinemia Mice homozygous for a knock-out allele are viable and appear grossly normal. Hyaluronan biosynthesis and export GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0007155;cell adhesion;TAS|GO:0010764;negative regulation of fibroblast migration;IMP|GO:0030213;hyaluronan biosynthetic process;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IDA|GO:0044849;estrous cycle;IEA|GO:0045226;extracellular polysaccharide biosynthetic process;IEA|GO:0085029;extracellular matrix assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050501;hyaluronan synthase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAS1 https://www.uniprot.org/uniprot/Q92839 https://www.ncbi.nlm.nih.gov/omim/?term=601463 http://www.informatics.jax.org/searchtool/Search.do?query=HAS1&submit=Quick%0D%3321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAS1 rs7248778 0.812101 0.7509 0.7920 0.08 1 13 exonic exonic exonic HAS1 HAS1 ENSG00000105509 nonsynonymous SNV nonsynonymous SNV unknown HAS1:NM_001297436:exon2:c.T37C:p.C13R,HAS1:NM_001523:exon2:c.T40C:p.C14R, HAS1:uc002pxn.1:exon1:c.T61C:p.C21R,HAS1:uc002pxo.1:exon2:c.T40C:p.C14R,HAS1:uc002pxp.1:exon2:c.T37C:p.C13R, UNKNOWN Het;A>G 1001;34|47 Ref Hom;A>G 1875;0|73 N N - 19 52223266 52223266 T C snp intronic HAS1 Has1 ENSG00000105509 hyaluronan synthase 1 chr19:52216365-52227247 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] macroglobulinemia Mice homozygous for a knock-out allele are viable and appear grossly normal. Hyaluronan biosynthesis and export GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0007155;cell adhesion;TAS|GO:0010764;negative regulation of fibroblast migration;IMP|GO:0030213;hyaluronan biosynthetic process;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IDA|GO:0044849;estrous cycle;IEA|GO:0045226;extracellular polysaccharide biosynthetic process;IEA|GO:0085029;extracellular matrix assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050501;hyaluronan synthase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAS1 https://www.uniprot.org/uniprot/Q92839 https://www.ncbi.nlm.nih.gov/omim/?term=601463 http://www.informatics.jax.org/searchtool/Search.do?query=HAS1&submit=Quick%0D%3321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAS1 rs57088533 0.812899 0 0 1 0 0 intronic intronic intronic HAS1 HAS1 ENSG00000105509 Na Na Na Na Na Na Het;T>C 131;7|6 Ref Hom;T>C 446;0|11 N N - 19 52249702 52249702 G T snp synonymous SNV C546A P182P hydrophobic,neutral hydrophobic,neutral FPR1 Fpr1 ENSG00000171051 formyl peptide receptor 1 chr19:52248425-52307363 This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010] periodontitis; Periodontitis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation; Aggressive Periodontitis|Periodontal Attachment Loss|Periodontal Pocket; inflammation; HIV Targeted null mice are viable and developmentally normal but show increased susceptibility to L. monocytogenes challenge, as shown by increased mortality and bacterial burden in liver/spleen early post-infection. Mutant neutrophils fail to respond to fMLF either in calcium flux or chemotaxis assays. Neutrophil degranulation GO:0000187;activation of MAPK activity;TAS|GO:0002430;complement receptor mediated signaling pathway;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IBA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IBA|GO:0007263;nitric oxide mediated signal transduction;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0050900;leukocyte migration;IBA|GO:0060326;cell chemotaxis;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0004871;signal transducer activity;IEA|GO:0004875;complement receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004982;N-formyl peptide receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0050786;RAGE receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FPR1 https://www.ncbi.nlm.nih.gov/omim/?term=136537 http://www.informatics.jax.org/searchtool/Search.do?query=FPR1&submit=Quick%0D%12836ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FPR1 rs2070746 0.351038 0.2891 0.3285 1 0 0 exonic exonic exonic FPR1 FPR1 ENSG00000171051 synonymous SNV synonymous SNV unknown FPR1:NM_002029:exon2:c.C546A:p.P182P,FPR1:NM_001193306:exon3:c.C546A:p.P182P, FPR1:uc021uyn.1:exon3:c.C546A:p.P182P,FPR1:uc002pxq.3:exon2:c.C546A:p.P182P,FPR1:uc021uyo.1:exon1:c.C546A:p.P182P, UNKNOWN Het;G>T 1777;100|79 Ref Hom;G>T 3225;0|112 N N - 19 52249947 52249947 C G snp nonsynonymous SNV G301C V101L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FPR1 Fpr1 ENSG00000171051 formyl peptide receptor 1 chr19:52248425-52307363 This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010] periodontitis; Periodontitis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation; Aggressive Periodontitis|Periodontal Attachment Loss|Periodontal Pocket; inflammation; HIV Targeted null mice are viable and developmentally normal but show increased susceptibility to L. monocytogenes challenge, as shown by increased mortality and bacterial burden in liver/spleen early post-infection. Mutant neutrophils fail to respond to fMLF either in calcium flux or chemotaxis assays. Neutrophil degranulation GO:0000187;activation of MAPK activity;TAS|GO:0002430;complement receptor mediated signaling pathway;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IBA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IBA|GO:0007263;nitric oxide mediated signal transduction;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0050900;leukocyte migration;IBA|GO:0060326;cell chemotaxis;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0004871;signal transducer activity;IEA|GO:0004875;complement receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004982;N-formyl peptide receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0050786;RAGE receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FPR1 https://www.ncbi.nlm.nih.gov/omim/?term=136537 http://www.informatics.jax.org/searchtool/Search.do?query=FPR1&submit=Quick%0D%12836ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FPR1 rs2070745 0.39377 0.3432 0.3891 0.15 2 13 exonic exonic exonic FPR1 FPR1 ENSG00000171051 nonsynonymous SNV nonsynonymous SNV unknown FPR1:NM_002029:exon2:c.G301C:p.V101L,FPR1:NM_001193306:exon3:c.G301C:p.V101L, FPR1:uc021uyn.1:exon3:c.G301C:p.V101L,FPR1:uc002pxq.3:exon2:c.G301C:p.V101L,FPR1:uc021uyo.1:exon1:c.G301C:p.V101L, UNKNOWN Het;C>G 2002;98|83 Ref Hom;C>G 4461;2|154 N N - 19 52937100 52937100 G T snp intronic ZNF534 ENSG00000198633 zinc finger protein 534 chr19:52932440-52955568 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF534 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF534&submit=Quick%0D%16946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF534 rs2560996 0.363618 0 0.3965 1 0 0 intronic intronic intronic ZNF534 ZNF534 ENSG00000198633 Na Na Na Na Na Na Het;G>T 99;12|5 Het;G>T 77;9|4 Hom;G>T 612;2|24 N N - 19 53489867 53489867 T C snp ncRNA_exonic ZNF702P rs329695 0.547324 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ZNF702P ZNF702P ENSG00000242779 Na Na Na Na Na Na Het;T>C 602;28|30 Het;T>C 370;45|19 Hom;T>C 1593;0|57 N N - 19 53507265 53507265 C T snp ncRNA_intronic ZNF702P rs1661910 0.486621 0 0 1 0 0 intergenic intergenic ncRNA_intronic ZNF702P(dist=10481),ERVV-1(dist=10079) ZNF702P(dist=10481),AK127846(dist=3500) ENSG00000242779 Na Na Na Na Na Na Het;C>T 39;2|2 Ref Hom;C>T 327;0|9 N N - 19 53792794 53792794 G C snp downstream BIRC8 Xiap ENSG00000163098 baculoviral IAP repeat containing 8 chr19:53792856-53794875 longevity Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product. GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IBA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BIRC8 http://www.informatics.jax.org/searchtool/Search.do?query=BIRC8&submit=Quick%0D%10878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC8 rs8106055 0.404353 0 0 1 0 0 downstream downstream downstream BIRC8 BIRC8 ENSG00000163098 Na Na Na Na Na Na Het;G>C 100;4|4 Ref Hom;G>C 353;0|9 N N - 19 53793042 53793042 G A snp nonsynonymous SNV C586T H196Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic BIRC8 Xiap ENSG00000163098 baculoviral IAP repeat containing 8 chr19:53792856-53794875 longevity Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product. GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IBA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BIRC8 http://www.informatics.jax.org/searchtool/Search.do?query=BIRC8&submit=Quick%0D%10878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC8 rs8109165 0.5623 0.5961 0.5600 0.17 2 12 exonic exonic exonic BIRC8 BIRC8 ENSG00000163098 nonsynonymous SNV nonsynonymous SNV unknown BIRC8:NM_033341:exon1:c.C586T:p.H196Y, BIRC8:uc002qbk.3:exon1:c.C586T:p.H196Y, UNKNOWN Het;G>A 1930;61|80 Het;G>A 1612;72|74 Hom;G>A 3335;0|114 N N - 19 53793574 53793574 A G snp synonymous SNV T54C V18V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BIRC8 Xiap ENSG00000163098 baculoviral IAP repeat containing 8 chr19:53792856-53794875 longevity Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product. GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IBA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BIRC8 http://www.informatics.jax.org/searchtool/Search.do?query=BIRC8&submit=Quick%0D%10878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC8 rs2865248 0.602436 0.6399 0.5758 1 0 0 exonic exonic exonic BIRC8 BIRC8 ENSG00000163098 synonymous SNV synonymous SNV unknown BIRC8:NM_033341:exon1:c.T54C:p.V18V, BIRC8:uc002qbk.3:exon1:c.T54C:p.V18V, UNKNOWN Het;A>G 1377;44|53 Het;A>G 927;50|35 Hom;A>G 2063;0|70 N N - 19 53793911 53793911 T A snp UTR5 -284A>T BIRC8 Xiap ENSG00000163098 baculoviral IAP repeat containing 8 chr19:53792856-53794875 longevity Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product. GO:0006915;apoptotic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IBA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BIRC8 http://www.informatics.jax.org/searchtool/Search.do?query=BIRC8&submit=Quick%0D%10878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC8 rs7260390 0.492212 0 0 1 0 0 UTR5 UTR5 UTR5 BIRC8(NM_033341:c.-284A>T) BIRC8(uc002qbk.3:c.-284A>T) ENSG00000163098(ENST00000426466:c.-284A>T) Na Na Na Na Na Na Het;T>A 184;7|8 Ref Hom;T>A 198;0|8 N N - 19 53818564 53818564 C T snp ncRNA_exonic VN1R6P rs73055190 0.255391 0 0 1 0 0 intergenic intergenic ncRNA_exonic BIRC8(dist=23689),ZNF845(dist=18438) BIRC8(dist=23689),ZNF845(dist=18438) ENSG00000174677 Na Na Na Na Na Na Het;C>T 283;7|10 Ref Hom;C>T 464;0|14 N N - 19 53818603 53818603 G A snp ncRNA_exonic VN1R6P rs10439122 0.242212 0 0 1 0 0 intergenic intergenic ncRNA_exonic BIRC8(dist=23728),ZNF845(dist=18399) BIRC8(dist=23728),ZNF845(dist=18399) ENSG00000174677 Na Na Na Na Na Na Het;G>A 275;5|9 Ref Hom;G>A 449;0|14 N N - 19 53837110 53837110 G A snp intronic ZNF845 Gm31526 ENSG00000213799 zinc finger protein 845 chr19:53837002-53858122 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF845 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF845&submit=Quick%0D%18168ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF845 rs7256521 0.496805 0 0 1 0 0 intronic intronic intronic ZNF845 ZNF845 ENSG00000213799 Na Na Na Na Na Na Het;G>A 149;4|8 Het;G>A 123;3|6 Hom;G>A 71;0|4 N N - 19 54185311 54185311 C T snp upstream MIR520F rs28653280 0.495008 0 0 1 0 0 upstream upstream upstream MIR520F MIR520F ENSG00000207555 Na Na Na Na Na Na Het;C>T 146;2|6 Ref Hom;C>T 235;0|9 N N - 19 54296751 54296751 C T snp downstream NLRP12 Nlrp12 ENSG00000142405 NLR family pyrin domain containing 12 chr19:54296857-54327648 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Type 2 Diabetes| edema | rosiglitazone; Crohn Disease|Crohn's disease; Monocytes; dermatitis and eczema Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors. GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0007165;signal transduction;NAS|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0009968;negative regulation of signal transduction;IDA|GO:0031953;negative regulation of protein autophosphorylation;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0036336;dendritic cell migration;IEA|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045345;positive regulation of MHC class I biosynthetic process;IDA|GO:0045381;regulation of interleukin-18 biosynthetic process;NAS|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045751;negative regulation of Toll signaling pathway;IDA|GO:0050710;negative regulation of cytokine secretion;IDA|GO:0050711;negative regulation of interleukin-1 secretion;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;NAS|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050729;positive regulation of inflammatory response;NAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IEA GO:0005737;cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS http://www.genecards.org/index.php?path=/Search/keyword/NLRP12 https://www.uniprot.org/uniprot/P59046 https://hpo.jax.org/app/browse/search?q=NLRP12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609648 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP12&submit=Quick%0D%8279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP12 rs10403867 0.200879 0 0 1 0 0 downstream downstream downstream NLRP12 NLRP12 ENSG00000142405 Na Na Na Na Na Na Het;C>T 50;2|2 Ref Hom;C>T 375;0|8 N N - 19 54296771 54296771 A C snp downstream NLRP12 Nlrp12 ENSG00000142405 NLR family pyrin domain containing 12 chr19:54296857-54327648 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Type 2 Diabetes| edema | rosiglitazone; Crohn Disease|Crohn's disease; Monocytes; dermatitis and eczema Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors. GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0007165;signal transduction;NAS|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0009968;negative regulation of signal transduction;IDA|GO:0031953;negative regulation of protein autophosphorylation;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0036336;dendritic cell migration;IEA|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045345;positive regulation of MHC class I biosynthetic process;IDA|GO:0045381;regulation of interleukin-18 biosynthetic process;NAS|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045751;negative regulation of Toll signaling pathway;IDA|GO:0050710;negative regulation of cytokine secretion;IDA|GO:0050711;negative regulation of interleukin-1 secretion;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;NAS|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050729;positive regulation of inflammatory response;NAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IEA GO:0005737;cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS http://www.genecards.org/index.php?path=/Search/keyword/NLRP12 https://www.uniprot.org/uniprot/P59046 https://hpo.jax.org/app/browse/search?q=NLRP12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609648 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP12&submit=Quick%0D%8279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP12 rs10403690 0.200679 0 0 1 0 0 downstream downstream downstream NLRP12 NLRP12 ENSG00000142405 Na Na Na Na Na Na Het;A>C 50;2|2 Ref Hom;A>C 448;0|12 N N - 19 54312796 54312796 C G snp intronic NLRP12 Nlrp12 ENSG00000142405 NLR family pyrin domain containing 12 chr19:54296857-54327648 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Type 2 Diabetes| edema | rosiglitazone; Crohn Disease|Crohn's disease; Monocytes; dermatitis and eczema Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors. GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0007165;signal transduction;NAS|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0009968;negative regulation of signal transduction;IDA|GO:0031953;negative regulation of protein autophosphorylation;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0036336;dendritic cell migration;IEA|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043281;regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045345;positive regulation of MHC class I biosynthetic process;IDA|GO:0045381;regulation of interleukin-18 biosynthetic process;NAS|GO:0045409;negative regulation of interleukin-6 biosynthetic process;IDA|GO:0045751;negative regulation of Toll signaling pathway;IDA|GO:0050710;negative regulation of cytokine secretion;IDA|GO:0050711;negative regulation of interleukin-1 secretion;IDA|GO:0050718;positive regulation of interleukin-1 beta secretion;NAS|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050729;positive regulation of inflammatory response;NAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IEA GO:0005737;cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS http://www.genecards.org/index.php?path=/Search/keyword/NLRP12 https://www.uniprot.org/uniprot/P59046 https://hpo.jax.org/app/browse/search?q=NLRP12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609648 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP12&submit=Quick%0D%8279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP12 rs58572468 0 0.2752 0.1099 1 0 0 intronic intronic intronic NLRP12 NLRP12 ENSG00000142405 Na Na Na Na Na Na Het;C>G 856;14|25 Ref Hom;C>G 2325;0|64 N N - 19 54494507 54494507 C T snp intergenic CACNG8 Cacng8 ENSG00000142408 calcium voltage-gated channel auxiliary subunit gamma 8 chr19:54466294-54493469 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010] Targeted null mutations of this gene result in altered hippocampal AMPA receptor number, distribution and synaptic plasticity. Mice homozygous for one knock-out allele exhibit significantly impaired long term potentiation in hippocampal CA1 synapses. LGI-ADAM interactions GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0019226;transmission of nerve impulse;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:2000311;regulation of AMPA receptor activity;IDA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;NAS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0032281;AMPA glutamate receptor complex;IBA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;NAS|GO:0005262;calcium channel activity;IEA|GO:0016247;channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CACNG8 https://www.uniprot.org/uniprot/Q8WXS5 https://www.ncbi.nlm.nih.gov/omim/?term=606900 http://www.informatics.jax.org/searchtool/Search.do?query=CACNG8&submit=Quick%0D%8280ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNG8 rs56362146 0.21865 0 0 1 0 0 intergenic intergenic intergenic CACNG8(dist=1038),CACNG6(dist=1035) CACNG8(dist=1038),CACNG6(dist=1035) ENSG00000142408(dist=1038),ENSG00000130433(dist=1035) Na Na Na Na Na Na Het;C>T 116;14|7 Ref Hom;C>T 576;0|22 N N - 19 54631911 54631911 A G snp intronic PRPF31 Prpf31 ENSG00000277953 pre-mRNA processing factor 31 chr19:54618837-54635140 This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009] Retinitis Pigmentosa; Retinal Diseases; retinitis pigmentosa; Triglycerides Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced. mRNA Splicing - Major Pathway GO:0000244;spliceosomal tri-snRNP complex assembly;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0071166;ribonucleoprotein complex localization;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005684;U2-type spliceosomal complex;IC|GO:0005687;U4 snRNP;IDA|GO:0005690;U4atac snRNP;TAS|GO:0015030;Cajal body;IDA|GO:0016607;nuclear speck;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0046540;U4/U6 x U5 tri-snRNP complex;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071339;MLL1 complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030621;U4 snRNA binding;IDA|GO:0030622;U4atac snRNA binding;IDA|GO:0043021;ribonucleoprotein complex binding;IDA|GO:0070990;snRNP binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRPF31 https://www.uniprot.org/uniprot/Q8WWY3 https://hpo.jax.org/app/browse/search?q=PRPF31&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606419 http://www.informatics.jax.org/searchtool/Search.do?query=PRPF31&submit=Quick%0D%21934ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPF31 rs2668840 0.497404 0 0 1 0 0 intronic intronic intronic PRPF31 PRPF31 ENSG00000105618 Na Na Na Na Na Na Het;A>G 147;5|5 Ref Hom;A>G 108;0|4 N N - 19 54704760 54704760 A C snp UTR5 -293A>C RPS9 Rps9 ENSG00000278270 ribosomal protein S9 chr19:54704610-54752862 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0019083;viral transcription;TAS|GO:0045903;positive regulation of translational fidelity;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0045182;translation regulator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RPS9 https://www.ncbi.nlm.nih.gov/omim/?term=603631 http://www.informatics.jax.org/searchtool/Search.do?query=RPS9&submit=Quick%0D%22005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS9 rs3810232 0.29373 0 0 1 0 0 intronic intronic UTR5 RPS9 RPS9 ENSG00000170889(ENST00000436445:c.-293A>C,ENST00000445961:c.-293A>C,ENST00000402367:c.-293A>C,ENST00000391752:c.-293A>C) Na Na Na Na Na Na Het;A>C 638;24|31 Ref Hom;A>C 1746;0|44 N N - 19 54705317 54705317 C G snp intronic RPS9 Rps9 ENSG00000278270 ribosomal protein S9 chr19:54704610-54752862 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0019083;viral transcription;TAS|GO:0045903;positive regulation of translational fidelity;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0045182;translation regulator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RPS9 https://www.ncbi.nlm.nih.gov/omim/?term=603631 http://www.informatics.jax.org/searchtool/Search.do?query=RPS9&submit=Quick%0D%22005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS9 rs158366 0.291933 0.2959 0.3405 1 0 0 intronic intronic intronic RPS9 RPS9 ENSG00000170889 Na Na Na Na Na Na Het;C>G 746;40|32 Ref Hom;C>G 1213;1|47 N N - 19 54705340 54705340 C G snp intronic RPS9 Rps9 ENSG00000278270 ribosomal protein S9 chr19:54704610-54752862 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0019083;viral transcription;TAS|GO:0045903;positive regulation of translational fidelity;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0045182;translation regulator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RPS9 https://www.ncbi.nlm.nih.gov/omim/?term=603631 http://www.informatics.jax.org/searchtool/Search.do?query=RPS9&submit=Quick%0D%22005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS9 rs2304524 0.291534 0.2962 0.3416 1 0 0 intronic intronic intronic RPS9 RPS9 ENSG00000170889 Na Na Na Na Na Na Het;C>G 664;48|32 Ref Hom;C>G 1296;1|51 N N - 19 54705588 54705588 A G snp intronic RPS9 Rps9 ENSG00000278270 ribosomal protein S9 chr19:54704610-54752862 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0019083;viral transcription;TAS|GO:0045903;positive regulation of translational fidelity;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0045182;translation regulator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RPS9 https://www.ncbi.nlm.nih.gov/omim/?term=603631 http://www.informatics.jax.org/searchtool/Search.do?query=RPS9&submit=Quick%0D%22005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS9 rs17305304 0.291933 0 0 1 0 0 intronic intronic intronic RPS9 RPS9 ENSG00000170889 Na Na Na Na Na Na Het;A>G 411;17|17 Ref Hom;A>G 697;0|25 N N - 19 54705641 54705641 T C snp intronic RPS9 Rps9 ENSG00000278270 ribosomal protein S9 chr19:54704610-54752862 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0019083;viral transcription;TAS|GO:0045903;positive regulation of translational fidelity;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0045182;translation regulator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RPS9 https://www.ncbi.nlm.nih.gov/omim/?term=603631 http://www.informatics.jax.org/searchtool/Search.do?query=RPS9&submit=Quick%0D%22005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS9 rs17305311 0.292133 0 0 1 0 0 intronic intronic intronic RPS9 RPS9 ENSG00000170889 Na Na Na Na Na Na Het;T>C 157;5|6 Ref Hom;T>C 216;0|6 N N - 19 54711590 54711590 C CACTTCAGGGTGAT indel downstream RPS9 Rps9 ENSG00000278270 ribosomal protein S9 chr19:54704610-54752862 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0019083;viral transcription;TAS|GO:0045903;positive regulation of translational fidelity;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0015935;small ribosomal subunit;IEA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA|GO:0045182;translation regulator activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RPS9 https://www.ncbi.nlm.nih.gov/omim/?term=603631 http://www.informatics.jax.org/searchtool/Search.do?query=RPS9&submit=Quick%0D%22005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS9 rs3217432 0.296326 0 0 1 0 0 downstream downstream intronic RPS9 RPS9 ENSG00000170889 Na Na Na Na Na Na Het;+ACTTCAGGGTGAT 238;10|8 Ref Hom;+ACTTCAGGGTGAT 801;0|20 N N - 19 54723813 54723813 G C snp intronic LILRB3 Pirb ENSG00000277816 leukocyte immunoglobulin like receptor B3 chr19:54720147-54746602 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LILRB3 https://www.ncbi.nlm.nih.gov/omim/?term=604820 http://www.informatics.jax.org/searchtool/Search.do?query=LILRB3&submit=Quick%0D%21910ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB3 rs8101337 0.388778 0 0.1449 1 0 0 intronic intronic intronic LILRB3 LILRA6,LILRB3 ENSG00000170889,ENSG00000204577,ENSG00000244482 Na Na Na Na Na Na Het;G>C 300;17|10 Ref Hom;G>C 463;0|12 N N - 19 54723822 54723822 G A snp intronic LILRB3 Pirb ENSG00000277816 leukocyte immunoglobulin like receptor B3 chr19:54720147-54746602 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LILRB3 https://www.ncbi.nlm.nih.gov/omim/?term=604820 http://www.informatics.jax.org/searchtool/Search.do?query=LILRB3&submit=Quick%0D%21910ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB3 rs2885369 0.379193 0 0.0904 1 0 0 intronic intronic intronic LILRB3 LILRA6,LILRB3 ENSG00000170889,ENSG00000204577,ENSG00000244482 Na Na Na Na Na Na Het;G>A 300;17|8 Ref Hom;G>A 423;0|8 N N - 19 54723823 54723823 T C snp intronic LILRB3 Pirb ENSG00000277816 leukocyte immunoglobulin like receptor B3 chr19:54720147-54746602 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LILRB3 https://www.ncbi.nlm.nih.gov/omim/?term=604820 http://www.informatics.jax.org/searchtool/Search.do?query=LILRB3&submit=Quick%0D%21910ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB3 rs2885368 0.399161 0 0.0964 1 0 0 intronic intronic intronic LILRB3 LILRA6,LILRB3 ENSG00000170889,ENSG00000204577,ENSG00000244482 Na Na Na Na Na Na Het;T>C 300;17|8 Ref Hom;T>C 374;0|8 N N - 19 54723829 54723829 C T snp intronic LILRB3 Pirb ENSG00000277816 leukocyte immunoglobulin like receptor B3 chr19:54720147-54746602 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LILRB3 https://www.ncbi.nlm.nih.gov/omim/?term=604820 http://www.informatics.jax.org/searchtool/Search.do?query=LILRB3&submit=Quick%0D%21910ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB3 rs4023903 0.369409 0 0.0633 1 0 0 intronic intronic intronic LILRB3 LILRA6,LILRB3 ENSG00000170889,ENSG00000204577,ENSG00000244482 Na Na Na Na Na Na Het;C>T 260;16|8 Ref Hom;C>T 332;0|8 N N - 19 547491 547491 C T snp intronic GZMM Gzmm ENSG00000197540 granzyme M chr19:544034-549919 Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Mice homozygous for a knock-in allele display normal immune homeostasis, normal NK cell cytotoxicity and a normal response to ectromelia virus infection, but show a transient but significant increase in susceptibility to infection with the murine cytomegalovirus. Alternative complement activation GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0008219;cell death;IEA|GO:0019835;cytolysis;IEA|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;IEA|GO:0016020;membrane;IDA GO:0004175;endopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GZMM https://www.ncbi.nlm.nih.gov/omim/?term=600311 http://www.informatics.jax.org/searchtool/Search.do?query=GZMM&submit=Quick%0D%16651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMM rs2070795 0.457069 0 0 1 0 0 intronic intronic intronic GZMM GZMM ENSG00000197540 Na Na Na Na Na Na Het;C>T 499;25|21 Het;C>T 556;12|25 Hom;C>T 892;0|30 N N - 19 55175596 55175596 T TGTGGGAG indel intronic LILRB4 Lilrb4a ENSG00000278555 leukocyte immunoglobulin like receptor B4 chr19:55155340-55181810 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] atopy; Atopy; Glucose Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LILRB4 https://www.ncbi.nlm.nih.gov/omim/?term=604821 http://www.informatics.jax.org/searchtool/Search.do?query=LILRB4&submit=Quick%0D%22077ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB4 rs111643703 0.861621 0 0.8245 1 0 0 intronic intronic intronic LILRB4 LILRB4 ENSG00000186818 Na Na Na Na Na Na Het;+GTGGGAG 436;24|13 Het;+GTGGGAG 389;12|10 Hom;+GTGGGAG 852;0|19 N N - 19 55176262 55176262 A G snp nonsynonymous SNV A755G D252G polar,hydrophilic,charged(-) aliphatic,neutral LILRB4 Lilrb4a ENSG00000278555 leukocyte immunoglobulin like receptor B4 chr19:55155340-55181810 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] atopy; Atopy; Glucose Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LILRB4 https://www.ncbi.nlm.nih.gov/omim/?term=604821 http://www.informatics.jax.org/searchtool/Search.do?query=LILRB4&submit=Quick%0D%22077ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LILRB4 rs731170 0.61901 0.6061 0.6687 1 0 0 exonic exonic exonic LILRB4 LILRB4 ENSG00000186818 nonsynonymous SNV nonsynonymous SNV unknown LILRB4:NM_001278429:exon4:c.A755G:p.D252G,LILRB4:NM_001278430:exon5:c.A668G:p.D223G,LILRB4:NM_001278428:exon5:c.A668G:p.D223G,LILRB4:NM_001278426:exon5:c.A668G:p.D223G,LILRB4:NM_001278427:exon5:c.A668G:p.D223G, LILRB4:uc010eru.3:exon4:c.A755G:p.D252G,LILRB4:uc002qgq.3:exon5:c.A668G:p.D223G,LILRB4:uc002qgp.3:exon5:c.A668G:p.D223G,LILRB4:uc010ers.1:exon4:c.A407G:p.D136G,LILRB4:uc010ert.3:exon5:c.A791G:p.D264G, UNKNOWN Het;A>G 1012;100|51 Het;A>G 1652;74|76 Hom;A>G 3425;0|131 N N - 19 55183977 55183977 T C snp ncRNA_exonic AC243962.1 rs1654656 0.427915 0 0 1 0 0 intergenic intergenic ncRNA_exonic LILRB4(dist=2167),LILRP2(dist=35723) LILRB4(dist=4131),LILRP2(dist=35624) ENSG00000225370 Na Na Na Na Na Na Het;T>C 114;7|7 Ref Hom;T>C 247;0|10 N N - 19 55255124 55255124 T TGA indel ncRNA_intronic AC245128.1 rs760308559 0 0 0 1 0 0 intronic intronic ncRNA_intronic KIR2DL3 KIR2DL1,KIR2DL3 ENSG00000215765 Na Na Na Na Na Na Het;+GA 212;2|7 Ref Hom;+GA 207;2|6 N N - 19 55328959 55328959 G T snp intronic KIR3DL1 ENSG00000284589 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 chr19:55235969-55378448 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis; Hepatitis C, Chronic; HIV Infections; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; normal variation; Hematologic Neoplasms; pregnancy loss; HIV Infections|[X]Human immunodeficiency virus disease; Leukemia, Large Granular Lymphocytic|Lymphocytosis; Graves disease; Chorioretinitis|; hepatitis C; liver cancer; spontaneous abortion; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Multiple Sclerosis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; cervical cancer; polyangiitis; Sjogren's Syndrome; Hepatitis C|HIV Infections; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Autoimmune Diseases|Gastritis; Neuroblastoma; acute GVHD; Leptospirosis|Swamp fever; Cytomegalovirus Infections|Postoperative Complications; Leprosy; systemic lupus erythematosus; celiac disease; Wegener's granulomatosis; cervical cancer; diabetes, type 1 ; Diabetes Mellitus, Type 1; Uveomeningoencephalitic Syndrome; Malaria; Psoriasis; Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; systemic lupus erythematosus ; Osteoarthritis|Spondylitis, Ankylosing; HIV; ankylosing spondylitis; neuroblastoma; Graft vs Host Disease|Leukemia, Myeloid, Acute; graft-versus-host disease; leukemia; Rheumatoid spondylitis|Spondylitis, Ankylosing; null; respiratory papillomatosis; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms|Recurrence; Leukemia|Lymphatic Diseases; Vogt-Koyanagi-Harada syndrome; Abortion, Habitual|Abortion, Spontaneous|Autoimmune Diseases; Hemorrhagic Fever, Ebola; Familial Mediterranean Fever|; Behcet Syndrome; graft versus host disease; Spondylitis, Ankylosing; Axial Spondyloarthropathy; Diabetes Mellitus, Type 1|; Hepatitis B, Chronic; bladder cancer colorectal cancer laryngeal cancer http://www.genecards.org/index.php?path=/Search/keyword/KIR3DL1 https://www.ncbi.nlm.nih.gov/omim/?term=604946 http://www.informatics.jax.org/searchtool/Search.do?query=KIR3DL1&submit=Quick%0D%23066ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIR3DL1 rs620031 0 0 0.2621 1 0 0 intronic intronic intronic KIR3DL1 KIR2DS4,KIR3DL1 ENSG00000167633 Na Na Na Na Na Na Het;G>T 130;2|6 Ref Hom;G>T 348;0|12 N N - 19 55346409 55346409 T A snp intronic KIR2DS4 ENSG00000284408 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 chr19:55344131-55360024 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] Graft vs Host Disease|Leukemia, Myeloid, Acute; Spondylitis, Ankylosing; pregnancy loss; Malaria; Behcet Syndrome; Abortion, Habitual|Abortion, Spontaneous|Autoimmune Diseases; Leptospirosis|Swamp fever; leukemia; Hepatitis B, Chronic; rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Vogt-Koyanagi-Harada syndrome; Diabetes Mellitus, Type 1|; Hepatitis C|Substance Abuse, Intravenous; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Osteoarthritis|Spondylitis, Ankylosing; Cytomegalovirus Infections|Postoperative Complications; Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; normal variation; Uveomeningoencephalitic Syndrome; diabetes, type 1 ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diabetes, type 2; Sjogren's Syndrome; HIV Infections|[X]Human immunodeficiency virus disease; respiratory papillomatosis; Familial Mediterranean Fever|; null; Multiple Sclerosis; Hepatitis C|HIV Infections; Leprosy; Graves disease; Autoimmune Diseases|Gastritis; Psoriasis; systemic lupus erythematosus ; spontaneous abortion; Hepatitis C, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms|Recurrence; bladder cancer colorectal cancer laryngeal cancer; acute GVHD; Cytomegalovirus Infections|Epstein-Barr Virus Infections|Polyomavirus Infections|Recurrence|Tumor Virus Infections; Chorioretinitis|; Graft vs Host Disease|Leukemia|Leukemia, Myeloid|Myeloid Leukemia|Neoplasm Recurrence, Local; neuroblastoma; systemic lupus erythematosus; cervical cancer; Axial Spondyloarthropathy; Hemorrhagic Fever, Ebola http://www.genecards.org/index.php?path=/Search/keyword/KIR2DS4 https://www.ncbi.nlm.nih.gov/omim/?term=604955 http://www.informatics.jax.org/searchtool/Search.do?query=KIR2DS4&submit=Quick%0D%23009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIR2DS4 rs4806584 0.790335 0 0 1 0 0 intronic intronic intronic KIR2DS4 KIR2DS4,KIR3DL1 ENSG00000167633,ENSG00000221957 Na Na Na Na Na Na Het;T>A 584;2|19 Ref Hom;T>A 607;0|21 N N - 19 55420801 55420801 C A snp synonymous SNV C553A R185R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NCR1 Ncr1 ENSG00000284208 natural cytotoxicity triggering receptor 1 chr19:55417508-55427508 Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. http://www.genecards.org/index.php?path=/Search/keyword/NCR1 https://www.ncbi.nlm.nih.gov/omim/?term=604530 http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1 rs3765013 0.483227 0.3631 0.3390 1 0 0 exonic exonic exonic NCR1 NCR1 ENSG00000189430 synonymous SNV synonymous SNV unknown NCR1:NM_001145457:exon4:c.C553A:p.R185R,NCR1:NM_004829:exon4:c.C553A:p.R185R,NCR1:NM_001145458:exon4:c.C553A:p.R185R,NCR1:NM_001242357:exon3:c.C268A:p.R90R,NCR1:NM_001242356:exon3:c.C268A:p.R90R, NCR1:uc002qib.2:exon4:c.C553A:p.R185R,NCR1:uc002qid.2:exon3:c.C268A:p.R90R,NCR1:uc010esj.2:exon2:c.C232A:p.R78R,NCR1:uc002qif.2:exon3:c.C268A:p.R90R,NCR1:uc002qie.2:exon4:c.C553A:p.R185R,NCR1:uc002qic.2:exon4:c.C553A:p.R185R, UNKNOWN Het;C>A 2769;168|129 Ref Hom;C>A 6756;0|243 N N - 19 55420924 55420924 C G snp intronic NCR1 Ncr1 ENSG00000284208 natural cytotoxicity triggering receptor 1 chr19:55417508-55427508 Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. http://www.genecards.org/index.php?path=/Search/keyword/NCR1 https://www.ncbi.nlm.nih.gov/omim/?term=604530 http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1 rs3765014 0.415535 0.2993 0.2733 1 0 0 intronic intronic intronic NCR1 NCR1 ENSG00000189430 Na Na Na Na Na Na Het;C>G 1101;63|47 Ref Hom;C>G 2349;2|80 N N - 19 55423488 55423488 T C snp intronic NCR1 Ncr1 ENSG00000284208 natural cytotoxicity triggering receptor 1 chr19:55417508-55427508 Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. http://www.genecards.org/index.php?path=/Search/keyword/NCR1 https://www.ncbi.nlm.nih.gov/omim/?term=604530 http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1 rs73619967 0.407149 0.2616 0.2707 1 0 0 intronic intronic intronic NCR1 NCR1 ENSG00000189430 Na Na Na Na Na Na Het;T>C 793;41|34 Ref Hom;T>C 971;1|33 N N - 19 55423530 55423530 C T snp intronic NCR1 Ncr1 ENSG00000284208 natural cytotoxicity triggering receptor 1 chr19:55417508-55427508 Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. http://www.genecards.org/index.php?path=/Search/keyword/NCR1 https://www.ncbi.nlm.nih.gov/omim/?term=604530 http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1 rs73619969 0.391773 0.2513 0.2516 1 0 0 intronic intronic intronic NCR1 NCR1 ENSG00000189430 Na Na Na Na Na Na Het;C>T 1352;71|60 Ref Hom;C>T 3033;1|117 N N - 19 55423763 55423763 A G snp intronic NCR1 Ncr1 ENSG00000284208 natural cytotoxicity triggering receptor 1 chr19:55417508-55427508 Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. http://www.genecards.org/index.php?path=/Search/keyword/NCR1 https://www.ncbi.nlm.nih.gov/omim/?term=604530 http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1 rs3826880 0.405351 0 0 1 0 0 intronic intronic intronic NCR1 NCR1 ENSG00000189430 Na Na Na Na Na Na Het;A>G 144;5|5 Ref Hom;A>G 141;0|4 N N - 19 55434739 55434739 C T snp downstream NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs550931 0.540735 0 0 1 0 0 downstream downstream downstream NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;C>T 32;7|2 Het;C>T 86;4|3 Hom;C>T 152;0|4 N N - 19 55438831 55438831 G T snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269931 0.591853 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;G>T 82;4|2 Het;G>T 95;1|3 Hom;G>T 194;0|4 N N - 19 55438850 55438850 A G snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269932 0.592652 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;A>G 82;4|3 Het;A>G 130;1|4 Hom;A>G 268;0|7 N N - 19 55438940 55438944 AAAAC A indel intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs104895515 0.591254 0.5454 0.5819 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;-AAAC 677;14|18 Het;-AAAC 658;15|19 Hom;-AAAC 1259;0|30 N N - 19 55439166 55439166 T C snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269933 0.592652 0.5464 0.5813 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;T>C 1082;41|47 Het;T>C 471;35|22 Hom;T>C 1447;2|51 N N - 19 55439197 55439197 A C snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269934 0.592652 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;A>C 676;23|28 Het;A>C 93;30|7 Hom;A>C 838;1|30 N N - 19 55439838 55439838 A G snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269939 0.592652 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;A>G 132;42|12 Het;A>G 651;30|32 Hom;A>G 1309;0|50 N N - 19 55440357 55440357 G A snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269940 0.592452 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;G>A 379;26|19 Het;G>A 154;24|11 Hom;G>A 332;2|16 N N - 19 55441769 55441769 G A snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269949 0.590056 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;G>A 148;4|5 Het;G>A 50;2|2 Hom;G>A 175;0|5 N N - 19 55441902 55441902 T C snp synonymous SNV A2775G A925A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269950 0.590056 0.5443 0.5819 1 0 0 exonic exonic exonic NLRP7 NLRP7 ENSG00000167634 synonymous SNV synonymous SNV unknown NLRP7:NM_206828:exon9:c.A2775G:p.A925A,NLRP7:NM_139176:exon9:c.A2691G:p.A897A,NLRP7:NM_001127255:exon9:c.A2775G:p.A925A, NLRP7:uc002qii.4:exon9:c.A2775G:p.A925A,NLRP7:uc002qig.4:exon9:c.A2691G:p.A897A,NLRP7:uc010esk.3:exon9:c.A2775G:p.A925A,NLRP7:uc010esl.3:exon11:c.A2859G:p.A953A,NLRP7:uc002qih.4:exon9:c.A2775G:p.A925A, UNKNOWN Het;T>C 755;35|35 Het;T>C 559;31|25 Hom;T>C 2153;0|79 N N - 19 55441995 55441995 A G snp synonymous SNV T2682C Y894Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269951 0.590455 0.5441 0.5815 1 0 0 exonic exonic exonic NLRP7 NLRP7 ENSG00000167634 synonymous SNV synonymous SNV unknown NLRP7:NM_206828:exon9:c.T2682C:p.Y894Y,NLRP7:NM_139176:exon9:c.T2598C:p.Y866Y,NLRP7:NM_001127255:exon9:c.T2682C:p.Y894Y, NLRP7:uc002qii.4:exon9:c.T2682C:p.Y894Y,NLRP7:uc002qig.4:exon9:c.T2598C:p.Y866Y,NLRP7:uc010esk.3:exon9:c.T2682C:p.Y894Y,NLRP7:uc010esl.3:exon11:c.T2766C:p.Y922Y,NLRP7:uc002qih.4:exon9:c.T2682C:p.Y894Y, UNKNOWN Het;A>G 1150;51|52 Het;A>G 781;48|37 Hom;A>G 2672;0|102 N N - 19 55443424 55443424 A G snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs269955 0.739417 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;A>G 1309;69|61 Het;A>G 1126;46|53 Hom;A>G 3695;0|139 N N - 19 55443467 55443467 G A snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs28545394 0.360024 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;G>A 1157;57|53 Het;G>A 1090;47|54 Hom;G>A 3329;0|127 N N - 19 55443578 55443578 T C snp intronic NLRP7 Nlrp2 ENSG00000278173 NLR family pyrin domain containing 7 chr19:55434877-55477680 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] longevity; Crohn Disease|Crohn's disease GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP7 https://hpo.jax.org/app/browse/search?q=NLRP7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609661 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP7&submit=Quick%0D%21979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP7 rs28499462 0.359824 0 0 1 0 0 intronic intronic intronic NLRP7 NLRP7 ENSG00000167634 Na Na Na Na Na Na Het;T>C 187;6|6 Het;T>C 104;9|4 Hom;T>C 438;0|12 N N - 19 55558568 55558568 G A snp ncRNA_intronic AC011476.2 rs775821 0.292732 0 0 1 0 0 intronic intronic ncRNA_intronic RDH13 RDH13 ENSG00000267149,ENSG00000267265 Na Na Na Na Na Na Het;G>A 1914;44|81 Het;G>A 995;33|45 Hom;G>A 2803;0|101 N N - 19 55660537 55660537 T C snp UTR5 -2012A>G TNNT1 Tnnt1 ENSG00000105048 troponin T1, slow skeletal type chr19:55644162-55660722 This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null or hypomorphic allele show small and loss of type I slow skeletal muscle fibers with compensatory hypertrophy of type II fast fibers and reduced contractile force and tolerance of skeletal muscle fibers. Striated Muscle Contraction GO:0003009;skeletal muscle contraction;IMP|GO:0006937;regulation of muscle contraction;IEA|GO:0014883;transition between fast and slow fiber;IEA|GO:0030049;muscle filament sliding;TAS|GO:0031444;slow-twitch skeletal muscle fiber contraction;IEA|GO:0045932;negative regulation of muscle contraction;IDA GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA GO:0005515;protein binding;IPI|GO:0005523;tropomyosin binding;IMP|GO:0031014;troponin T binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNNT1 https://www.uniprot.org/uniprot/P13805 https://hpo.jax.org/app/browse/search?q=TNNT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191041 http://www.informatics.jax.org/searchtool/Search.do?query=TNNT1&submit=Quick%0D%3226ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNT1 rs9636153 0.810104 0 0.8315 1 0 0 UTR5 UTR5 UTR5 TNNT1(NM_001291774:c.-2012A>G,NM_001126132:c.-2012A>G,NM_001126133:c.-2012A>G,NM_003283:c.-2012A>G) TNNT1(uc002qjb.4:c.-2012A>G,uc002qjc.4:c.-2012A>G,uc002qje.4:c.-2012A>G,uc002qjd.4:c.-2012A>G,uc002qjf.2:c.-2012A>G) ENSG00000105048(ENST00000536926:c.-2012A>G,ENST00000588981:c.-2012A>G,ENST00000588426:c.-2037A>G,ENST00000291901:c.-2012A>G,ENST00000356783:c.-2012A>G,ENST00000587758:c.-2012A>G,ENST00000588147:c.-2012A>G) Na Na Na Na Na Na Het;T>C 1058;36|47 Het;T>C 384;37|21 Hom;T>C 1638;2|66 N N - 19 55913038 55913038 C T snp synonymous SNV G435A A145A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral UBE2S Ube2s ENSG00000108106 ubiquitin conjugating enzyme E2 S chr19:55912652-55919145 This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0006464;cellular protein modification process;TAS|GO:0007049;cell cycle;IEA|GO:0010458;exit from mitosis;IDA|GO:0010994;free ubiquitin chain polymerization;IDA|GO:0016567;protein ubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;IDA|GO:0035519;protein K29-linked ubiquitination;IDA|GO:0044314;protein K27-linked ubiquitination;IDA|GO:0051301;cell division;IEA|GO:0070534;protein K63-linked ubiquitination;IDA|GO:0070979;protein K11-linked ubiquitination;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;IDA GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0061631;ubiquitin conjugating enzyme activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBE2S https://www.uniprot.org/uniprot/Q16763 https://www.ncbi.nlm.nih.gov/omim/?term=610309 http://www.informatics.jax.org/searchtool/Search.do?query=UBE2S&submit=Quick%0D%3680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2S rs7608 0.580871 0 0.6431 1 0 0 exonic exonic exonic UBE2S UBE2S ENSG00000108106 synonymous SNV synonymous SNV unknown UBE2S:NM_014501:exon4:c.G435A:p.A145A, UBE2S:uc002qkx.1:exon4:c.G435A:p.A145A, UNKNOWN Het;C>T 175;11|9 Het;C>T 319;6|11 Hom;C>T 275;0|11 N N - 19 56153868 56153868 G A snp UTR5 -7G>A ZNF580 Zfp580 ENSG00000213015 zinc finger protein 580 chr19:56146382-56154835 Coronary Disease GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0002690;positive regulation of leukocyte chemotaxis;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0070301;cellular response to hydrogen peroxide;IDA GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF580 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF580&submit=Quick%0D%18074ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF580 rs310475 0.485423 0.5875 0.6103 1 0 0 UTR5 UTR5 UTR5 ZNF580(NM_207115:c.-7G>A,NM_016202:c.-7G>A,NM_001163423:c.-7G>A) ZNF580(uc002qlo.3:c.-7G>A,uc002qlp.3:c.-7G>A,uc010ygd.2:c.-7G>A) ENSG00000213015(ENST00000592881:c.-7G>A,ENST00000325333:c.-7G>A,ENST00000590190:c.-7G>A,ENST00000543039:c.-7G>A,ENST00000545125:c.-7G>A,ENST00000592461:c.-7G>A) Na Na Na Na Na Na Het;G>A 341;8|15 Ref Hom;G>A 1022;0|37 N N - 19 56154518 56154521 GTTT G indel UTR3 *125_*128delinsG ZNF580 Zfp580 ENSG00000213015 zinc finger protein 580 chr19:56146382-56154835 Coronary Disease GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0002690;positive regulation of leukocyte chemotaxis;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0070301;cellular response to hydrogen peroxide;IDA GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF580 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF580&submit=Quick%0D%18074ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF580 rs34506180 0.716454 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF580(NM_207115:c.*125_*128delinsG,NM_016202:c.*125_*128delinsG,NM_001163423:c.*125_*128delinsG) ZNF580(uc002qlo.3:c.*125_*128delinsG,uc002qlp.3:c.*125_*128delinsG,uc010ygd.2:c.*125_*128delinsG) ENSG00000213015(ENST00000325333:c.*125_*128delinsG,ENST00000543039:c.*125_*128delinsG,ENST00000545125:c.*125_*128delinsG) Na Na Na Na Na Na Het;-TTT 167;2|5 Ref Hom;-TTT 188;0|5 N N - 19 56372613 56372613 A C snp intronic NLRP4 Nlrp4e ENSG00000160505 NLR family pyrin domain containing 4 chr19:56347944-56393220 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] Heart Failure; Crohn Disease|Crohn's disease; Leukemia, Lymphocytic, Chronic, B-Cell IRF3-mediated induction of type I IFN GO:0006954;inflammatory response;IEA|GO:0032479;regulation of type I interferon production;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP4 https://www.ncbi.nlm.nih.gov/omim/?term=609645 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP4&submit=Quick%0D%10476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP4 rs4801634 0.509185 0 0 1 0 0 intronic intronic intronic NLRP4 NLRP4 ENSG00000160505 Na Na Na Na Na Na Het;A>C 564;29|22 Ref Hom;A>C 858;0|30 N N - 19 56372705 56372705 C T snp intronic NLRP4 Nlrp4e ENSG00000160505 NLR family pyrin domain containing 4 chr19:56347944-56393220 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] Heart Failure; Crohn Disease|Crohn's disease; Leukemia, Lymphocytic, Chronic, B-Cell IRF3-mediated induction of type I IFN GO:0006954;inflammatory response;IEA|GO:0032479;regulation of type I interferon production;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP4 https://www.ncbi.nlm.nih.gov/omim/?term=609645 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP4&submit=Quick%0D%10476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP4 rs4801635 0.51278 0.4336 0.4773 1 0 0 intronic intronic intronic NLRP4 NLRP4 ENSG00000160505 Na Na Na Na Na Na Het;C>T 1346;82|61 Ref Hom;C>T 2581;2|90 N N - 19 56435521 56435521 C G snp intronic NLRP13 ENSG00000173572 NLR family pyrin domain containing 13 chr19:56403065-56443702 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] Crohn Disease|Crohn's disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP13 https://www.ncbi.nlm.nih.gov/omim/?term=609660 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP13&submit=Quick%0D%13384ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP13 rs142434950 0.0219649 0 0 1 0 0 intronic intronic intronic NLRP13 NLRP13 ENSG00000173572 Na Na Na Na Na Na Het;C>G 252;10|8 Ref Hom;C>G 220;0|7 N N - 19 56477710 56477710 T C snp nonsynonymous SNV T2345C V782A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NLRP8 ENSG00000179709 NLR family pyrin domain containing 8 chr19:56459198-56499995 This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Crohn Disease|Crohn's disease; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell GO:0070997;neuron death;IMP GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP8 https://www.ncbi.nlm.nih.gov/omim/?term=609659 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP8&submit=Quick%0D%14375ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP8 rs306496 0.658546 0.5931 0.5843 0.08 1 12 exonic exonic exonic NLRP8 NLRP8 ENSG00000179709 nonsynonymous SNV nonsynonymous SNV unknown NLRP8:NM_176811:exon5:c.T2345C:p.V782A, NLRP8:uc010etg.3:exon5:c.T2345C:p.V782A,NLRP8:uc002qmh.3:exon5:c.T2345C:p.V782A, UNKNOWN Het;T>C 1601;69|74 Het;T>C 1236;78|54 Hom;T>C 3200;0|115 N N - 19 56515334 56515334 C T snp synonymous SNV C315T N105N polar,hydrophilic,neutral polar,hydrophilic,neutral NLRP5 Nlrp5 ENSG00000171487 chr19:56511092-56573179 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP5 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5 rs1560691 0.201078 0.1323 0.1621 1 0 0 exonic exonic exonic NLRP5 NLRP5 ENSG00000171487 synonymous SNV synonymous SNV unknown NLRP5:NM_153447:exon2:c.C315T:p.N105N, NLRP5:uc002qmj.3:exon2:c.C315T:p.N105N,NLRP5:uc002qmi.3:exon2:c.C315T:p.N105N, UNKNOWN Het;C>T 1780;76|81 Ref Hom;C>T 3786;0|138 N N - 19 56515594 56515594 T C snp intronic NLRP5 Nlrp5 ENSG00000171487 chr19:56511092-56573179 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP5 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5 rs4801658 0.217053 0 0 1 0 0 intronic intronic intronic NLRP5 NLRP5 ENSG00000171487 Na Na Na Na Na Na Het;T>C 127;3|5 Ref Hom;T>C 365;0|9 N N - 19 56588609 56588609 G A snp ncRNA_exonic LOC101928886 rs505187 0.218251 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928886 NLRP5(dist=15435),ZNF787(dist=10123) ENSG00000267522 Na Na Na Na Na Na Het;G>A 1925;65|80 Ref Hom;G>A 3293;0|120 N N - 19 56688669 56688669 A G snp intronic GALP Galp ENSG00000197487 galanin like peptide chr19:56687389-56697144 This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014] Alzheimer's disease; Alzheimer's disease Mice homozygous for a knock-out allele exhibit resistance to diet induced obesity. GO:0007218;neuropeptide signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0009725;response to hormone;IEA|GO:0032098;regulation of appetite;IEA|GO:0032868;response to insulin;IEA|GO:0042595;behavioral response to starvation;IEA|GO:0042742;defense response to bacterium;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALP https://www.ncbi.nlm.nih.gov/omim/?term=611178 http://www.informatics.jax.org/searchtool/Search.do?query=GALP&submit=Quick%0D%16641ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALP rs4801681 0.302915 0 0 1 0 0 intronic intronic intronic GALP GALP ENSG00000197487 Na Na Na Na Na Na Het;A>G 571;18|21 Ref Hom;A>G 500;0|14 N N - 19 56693620 56693620 C G snp nonsynonymous SNV C216G I72M aliphatic,hydrophobic,neutral hydrophobic,neutral GALP Galp ENSG00000197487 galanin like peptide chr19:56687389-56697144 This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014] Alzheimer's disease; Alzheimer's disease Mice homozygous for a knock-out allele exhibit resistance to diet induced obesity. GO:0007218;neuropeptide signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0009725;response to hormone;IEA|GO:0032098;regulation of appetite;IEA|GO:0032868;response to insulin;IEA|GO:0042595;behavioral response to starvation;IEA|GO:0042742;defense response to bacterium;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALP https://www.ncbi.nlm.nih.gov/omim/?term=611178 http://www.informatics.jax.org/searchtool/Search.do?query=GALP&submit=Quick%0D%16641ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALP rs3745833 0.325479 0.3541 0.3435 0.33 4 12 exonic exonic exonic GALP GALP ENSG00000197487 nonsynonymous SNV nonsynonymous SNV unknown GALP:NM_033106:exon4:c.C216G:p.I72M, GALP:uc002qmo.1:exon4:c.C216G:p.I72M, UNKNOWN Het;C>G 630;41|29 Ref Hom;C>G 1688;0|64 N N - 19 56728605 56728605 G A snp ncRNA_exonic AC011506.1 rs7250818 0.534345 0 0 1 0 0 intergenic intergenic ncRNA_exonic ZSCAN5B(dist=24184),ZSCAN5A(dist=4074) ZSCAN5B(dist=24184),ZSCAN5A(dist=4074) ENSG00000242411 Na Na Na Na Na Na Het;G>A 79;4|4 Ref Hom;G>A 154;0|6 N N - 19 56758220 56758220 G A snp unknown ZSCAN5DP rs3972669 0.914936 0 0.9277 0.17 1 6 intergenic intronic exonic ZSCAN5A(dist=18561),ZNF542P(dist=121248) ZSCAN5A ENSG00000267908 Na Na unknown Na Na UNKNOWN Het;G>A 149;6|8 Het;G>A 113;1|8 Hom;G>A 217;0|10 N N - 19 56901293 56901293 C T snp intronic ZNF582 Gm3854 ENSG00000018869 zinc finger protein 582 chr19:56887413-56904914 The protein encoded by this gene is a zing finger protein and putative transcription factor that is highly methylated in cervical cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF582 https://www.uniprot.org/uniprot/Q96NG8 https://www.ncbi.nlm.nih.gov/omim/?term=615600 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF582&submit=Quick%0D%643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF582 rs6509995 0.829673 0 0 1 0 0 intronic intronic intronic ZNF582 ZNF582 ENSG00000018869 Na Na Na Na Na Na Het;C>T 187;8|8 Het;C>T 257;15|9 Hom;C>T 713;0|25 N N - 19 56918560 56918560 T A snp intronic ZNF583 Zfp583 ENSG00000198440 zinc finger protein 583 chr19:56909335-56947404 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF583 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF583&submit=Quick%0D%16894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF583 rs4801159 0.887181 0.8379 0 1 0 0 intronic intronic intronic ZNF583 ZNF583 ENSG00000198440 Na Na Na Na Na Na Het;T>A 808;47|35 Het;T>A 666;43|35 Hom;T>A 1860;0|68 N N - 19 56918574 56918574 T C snp intronic ZNF583 Zfp583 ENSG00000198440 zinc finger protein 583 chr19:56909335-56947404 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF583 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF583&submit=Quick%0D%16894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF583 rs2288862 0.887181 0.8382 0 1 0 0 intronic intronic intronic ZNF583 ZNF583 ENSG00000198440 Na Na Na Na Na Na Het;T>C 762;36|31 Het;T>C 671;33|32 Hom;T>C 1497;0|52 N N - 19 56918598 56918598 T C snp intronic ZNF583 Zfp583 ENSG00000198440 zinc finger protein 583 chr19:56909335-56947404 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF583 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF583&submit=Quick%0D%16894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF583 rs2288863 0.883187 0 0 1 0 0 intronic intronic intronic ZNF583 ZNF583 ENSG00000198440 Na Na Na Na Na Na Het;T>C 642;23|22 Het;T>C 481;15|20 Hom;T>C 930;0|31 N N - 19 56918661 56918661 T G snp intronic ZNF583 Zfp583 ENSG00000198440 zinc finger protein 583 chr19:56909335-56947404 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF583 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF583&submit=Quick%0D%16894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF583 rs4801160 0.887181 0 0 1 0 0 intronic intronic intronic ZNF583 ZNF583 ENSG00000198440 Na Na Na Na Na Na Het;T>G 371;7|11 Het;T>G 156;3|5 Hom;T>G 332;0|9 N N - 19 57060573 57060573 C T snp ncRNA_intronic BX647249 rs2074941 0.602636 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic ZFP28 BX647249 ENSG00000269696 Na Na Na Na Na Na Het;C>T 66;4|3 Het;C>T 172;3|7 Hom;C>T 274;0|8 N N - 19 57175484 57175484 A G snp synonymous SNV T1083C P361P hydrophobic,neutral hydrophobic,neutral ZNF835 ENSG00000127903 zinc finger protein 835 chr19:57174020-57183151 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF835 https://www.uniprot.org/uniprot/Q9Y2P0 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF835&submit=Quick%0D%6076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF835 rs7250003 0.474042 0.4194 0.3797 1 0 0 exonic exonic exonic ZNF835 ZNF835 ENSG00000127903 synonymous SNV synonymous SNV unknown ZNF835:NM_001005850:exon2:c.T1083C:p.P361P, ZNF835:uc010ygn.2:exon2:c.T1083C:p.P361P,ZNF835:uc031rne.1:exon1:c.T1083C:p.P361P, UNKNOWN Het;A>G 1148;35|50 Ref Hom;A>G 1773;0|64 N N - 19 57176198 57176198 T G snp synonymous SNV A369C S123S polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF835 ENSG00000127903 zinc finger protein 835 chr19:57174020-57183151 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF835 https://www.uniprot.org/uniprot/Q9Y2P0 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF835&submit=Quick%0D%6076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF835 rs8108756 0.465256 0.4180 0.3732 1 0 0 exonic exonic exonic ZNF835 ZNF835 ENSG00000127903 synonymous SNV synonymous SNV unknown ZNF835:NM_001005850:exon2:c.A369C:p.S123S, ZNF835:uc010ygn.2:exon2:c.A369C:p.S123S,ZNF835:uc031rne.1:exon1:c.A369C:p.S123S, UNKNOWN Het;T>G 1802;132|88 Ref Hom;T>G 5073;0|189 N N - 19 57176304 57176304 T G snp nonsynonymous SNV A263C E88A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral ZNF835 ENSG00000127903 zinc finger protein 835 chr19:57174020-57183151 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF835 https://www.uniprot.org/uniprot/Q9Y2P0 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF835&submit=Quick%0D%6076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF835 rs12460400 0.400759 0.3286 0.3510 0.08 1 12 exonic exonic exonic ZNF835 ZNF835 ENSG00000127903 nonsynonymous SNV nonsynonymous SNV unknown ZNF835:NM_001005850:exon2:c.A263C:p.E88A, ZNF835:uc010ygn.2:exon2:c.A263C:p.E88A,ZNF835:uc031rne.1:exon1:c.A263C:p.E88A, UNKNOWN Het;T>G 2298;124|101 Ref Hom;T>G 5317;0|189 N N - 19 57176482 57176482 C T snp nonsynonymous SNV G85A E29K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ZNF835 ENSG00000127903 zinc finger protein 835 chr19:57174020-57183151 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF835 https://www.uniprot.org/uniprot/Q9Y2P0 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF835&submit=Quick%0D%6076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF835 rs12462469 0.41234 0.3396 0.3553 0.08 1 12 exonic exonic exonic ZNF835 ZNF835 ENSG00000127903 nonsynonymous SNV nonsynonymous SNV unknown ZNF835:NM_001005850:exon2:c.G85A:p.E29K, ZNF835:uc010ygn.2:exon2:c.G85A:p.E29K,ZNF835:uc031rne.1:exon1:c.G85A:p.E29K, UNKNOWN Het;C>T 3004;109|129 Ref Hom;C>T 5844;0|214 N N - 19 57226109 57226109 C T snp ncRNA_intronic FJ997633 rs62133210 0.352636 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic ZNF835(dist=42986),ZIM2-AS1(dist=50581) FJ997633 ENSG00000269793 Na Na Na Na Na Na Het;C>T 104;26|5 Ref Hom;C>T 746;0|26 N N - 19 57293394 57293394 A G snp synonymous SNV T573C S191S polar,hydrophilic,neutral polar,hydrophilic,neutral ZIM2 ENSG00000269699 zinc finger imprinted 2 chr19:57285920-57352097 In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZIM2 http://www.informatics.jax.org/searchtool/Search.do?query=ZIM2&submit=Quick%0D%20772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZIM2 rs2286751 0.747204 0.7690 0.7915 1 0 0 exonic exonic exonic ZIM2 ZIM2 ENSG00000269699 synonymous SNV synonymous SNV unknown ZIM2:NM_001146327:exon10:c.T573C:p.S191S,ZIM2:NM_015363:exon9:c.T573C:p.S191S,ZIM2:NM_001146326:exon10:c.T573C:p.S191S, ZIM2:uc010ygs.1:exon9:c.T573C:p.S191S,ZIM2:uc002qnr.2:exon9:c.T573C:p.S191S,ZIM2:uc010etp.2:exon10:c.T573C:p.S191S,ZIM2:uc002qnq.2:exon10:c.T573C:p.S191S, UNKNOWN Het;A>G 1268;47|56 Het;A>G 977;64|50 Hom;A>G 4303;0|159 N N - 19 578239 578239 C T snp intronic BSG Bsg ENSG00000172270 basigin (Ok blood group) chr19:571297-583493 The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Most homozygous null mutants die near the time of implantation. Half of the survivors die prior to 1 month of age from interstitial pneumonia. The remaining mice are small, sterile, have retinal abnormalities, and perform poorly in behavioral tests. Pyruvate metabolism GO:0006090;pyruvate metabolic process;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007566;embryo implantation;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043434;response to peptide hormone;IEA|GO:0046689;response to mercury ion;IEA|GO:0046697;decidualization;IEA|GO:0050900;leukocyte migration;TAS|GO:0051591;response to cAMP;IEA|GO:0072661;protein targeting to plasma membrane;ISS|GO:0006090;pyruvate metabolic process;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007566;embryo implantation;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043434;response to peptide hormone;IEA|GO:0046689;response to mercury ion;IEA|GO:0046697;decidualization;IEA|GO:0050900;leukocyte migration;TAS|GO:0051591;response to cAMP;IEA|GO:0072661;protein targeting to plasma membrane;ISS GO:0000139;Golgi membrane;TAS|GO:0002080;acrosomal membrane;IEA|GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA|GO:0042470;melanosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IEA|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0030246;carbohydrate binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BSG https://www.uniprot.org/uniprot/P35613 https://www.ncbi.nlm.nih.gov/omim/?term=109480 http://www.informatics.jax.org/searchtool/Search.do?query=BSG&submit=Quick%0D%221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSG rs2283571 0.530751 0 0 1 0 0 intronic intronic intronic BSG BSG ENSG00000172270 Na Na Na Na Na Na Het;C>T 190;17|9 Het;C>T 123;8|5 Hom;C>T 198;0|8 N N - 19 57865082 57865082 T C snp intronic ZNF304 ENSG00000131845 zinc finger protein 304 chr19:57862675-57871266 This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing of target genes. Expression of this gene is upregulated in colorectal, ovarian and breast cancer, and this gene may promote cancer cell survival, growth and invasion. [provided by RefSeq, Jul 2016] Generic Transcription Pathway GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007265;Ras protein signal transduction;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0035562;negative regulation of chromatin binding;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IMP|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:1900114;positive regulation of histone H3-K9 trimethylation;IMP|GO:1902466;positive regulation of histone H3-K27 trimethylation;IMP|GO:2000811;negative regulation of anoikis;IMP GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ZNF304 https://www.uniprot.org/uniprot/Q9HCX3 https://www.ncbi.nlm.nih.gov/omim/?term=613840 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF304&submit=Quick%0D%6595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF304 rs862703 0.755791 0.6733 0.7573 1 0 0 intronic intronic intronic ZNF304 ZNF304 ENSG00000131845 Na Na Na Na Na Na Het;T>C 714;30|32 Het;T>C 646;21|28 Hom;T>C 1788;0|62 N N - 19 58027471 58027471 C T snp UTR3 *3035C>T ZNF773 Zfp772 ENSG00000152439 zinc finger protein 773 chr19:58011283-58029772 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF773 https://www.uniprot.org/uniprot/Q6PK81 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF773&submit=Quick%0D%9547ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF773 rs6510087 0.171526 0 0 1 0 0 intergenic UTR3 UTR3 ZNF773(dist=2952),ZNF549(dist=11222) ZNF773(uc021vcl.1:c.*3035C>T) ENSG00000152439(ENST00000599847:c.*3035C>T,ENST00000597061:c.*133C>T) Na Na Na Na Na Na Het;C>T 133;2|7 Het;C>T 129;2|7 Hom;C>T 159;0|7 N N - 19 582468 582468 A G snp intronic BSG Bsg ENSG00000172270 basigin (Ok blood group) chr19:571297-583493 The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Most homozygous null mutants die near the time of implantation. Half of the survivors die prior to 1 month of age from interstitial pneumonia. The remaining mice are small, sterile, have retinal abnormalities, and perform poorly in behavioral tests. Pyruvate metabolism GO:0006090;pyruvate metabolic process;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007566;embryo implantation;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043434;response to peptide hormone;IEA|GO:0046689;response to mercury ion;IEA|GO:0046697;decidualization;IEA|GO:0050900;leukocyte migration;TAS|GO:0051591;response to cAMP;IEA|GO:0072661;protein targeting to plasma membrane;ISS|GO:0006090;pyruvate metabolic process;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007566;embryo implantation;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043434;response to peptide hormone;IEA|GO:0046689;response to mercury ion;IEA|GO:0046697;decidualization;IEA|GO:0050900;leukocyte migration;TAS|GO:0051591;response to cAMP;IEA|GO:0072661;protein targeting to plasma membrane;ISS GO:0000139;Golgi membrane;TAS|GO:0002080;acrosomal membrane;IEA|GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA|GO:0042470;melanosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IEA|GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0030246;carbohydrate binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BSG https://www.uniprot.org/uniprot/P35613 https://www.ncbi.nlm.nih.gov/omim/?term=109480 http://www.informatics.jax.org/searchtool/Search.do?query=BSG&submit=Quick%0D%221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSG rs2074962 0.716454 0.5728 0.5751 1 0 0 intronic intronic intronic BSG BSG ENSG00000172270 Na Na Na Na Na Na Het;A>G 178;10|8 Ref Hom;A>G 507;0|18 N N - 19 58514715 58514715 C G snp UTR5 -2028G>C ZNF606 Zfp606 ENSG00000166704 zinc finger protein 606 chr19:58488421-58514717 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF606 https://www.ncbi.nlm.nih.gov/omim/?term=613905 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF606&submit=Quick%0D%11848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF606 rs4801540 0.434904 0 0.5479 1 0 0 ncRNA_intronic intronic UTR5 LOC100128398 LOC100128398 ENSG00000166704(ENST00000341164:c.-2028G>C) Na Na Na Na Na Na Het;C>G 644;46|30 Het;C>G 738;34|32 Hom;C>G 2366;0|90 N N - 19 58514815 58514815 T G snp ncRNA_intronic LOC100128398 rs4801244 0.435703 0 0 1 0 0 ncRNA_intronic intronic intronic LOC100128398 LOC100128398 ENSG00000176593 Na Na Na Na Na Na Het;T>G 77;14|4 Het;T>G 163;17|8 Hom;T>G 562;0|17 N N - 19 58517681 58517681 C T snp ncRNA_exonic LOC100128398 rs12462562 0.433307 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LOC100128398 LOC100128398(uc021vcs.2:c.*314C>T) ENSG00000176593(ENST00000550135:c.*314C>T,ENST00000546949:c.*1892C>T,ENST00000313957:c.*686C>T) Na Na Na Na Na Na Het;C>T 1241;71|52 Het;C>T 1085;49|48 Hom;C>T 2675;1|95 N N - 19 5867913 5867913 G A snp intronic FUT5 ENSG00000130383 fucosyltransferase 5 chr19:5865837-5903798 GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0036065;fucosylation;IEA|GO:0042355;L-fucose catabolic process;NAS GO:0000139;Golgi membrane;IBA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA GO:0008417;fucosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017060;3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity;IEA|GO:0046920;alpha-(1->3)-fucosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FUT5 https://www.uniprot.org/uniprot/Q11128 https://www.ncbi.nlm.nih.gov/omim/?term=136835 http://www.informatics.jax.org/searchtool/Search.do?query=FUT5&submit=Quick%0D%6364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FUT5 rs778972 0.803714 0 0 1 0 0 intronic intronic intronic FUT5 FUT5 ENSG00000130383,ENSG00000267740 Na Na Na Na Na Na Het;G>A 52;6|3 Het;G>A 107;1|4 Hom;G>A 203;0|6 N N - 19 58968875 58968875 A C snp UTR3 *929A>C ZNF324B Zfp324 ENSG00000249471 zinc finger protein 324B chr19:58962971-58969200 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF324B http://www.informatics.jax.org/searchtool/Search.do?query=ZNF324B&submit=Quick%0D%19923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF324B rs1077420 0.492812 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF324B(NM_207395:c.*929A>C) ZNF324B(uc002qsu.1:c.*929A>C,uc002qsv.1:c.*929A>C,uc010euq.1:c.*929A>C) ENSG00000249471(ENST00000336614:c.*929A>C,ENST00000391696:c.*929A>C) Na Na Na Na Na Na Het;A>C 163;3|6 Ref Hom;A>C 442;0|11 N N - 19 58989495 58989495 A C snp nonsynonymous SNV A574C N192H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) ZNF446 Zfp446 ENSG00000083838 zinc finger protein 446 chr19:58985384-58992597 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF446 https://www.uniprot.org/uniprot/Q9NWS9 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF446&submit=Quick%0D%1843ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF446 rs893185 0.440296 0.5117 0.4349 0.08 1 13 exonic exonic exonic ZNF446 ZNF446 ENSG00000083838 nonsynonymous SNV nonsynonymous SNV unknown ZNF446:NM_001304453:exon3:c.A574C:p.N192H,ZNF446:NM_017908:exon4:c.A574C:p.N192H, ZNF446:uc002qsz.3:exon4:c.A574C:p.N192H,ZNF446:uc002qta.3:exon4:c.A574C:p.N192H,ZNF446:uc010eur.3:exon4:c.A574C:p.N192H, UNKNOWN Het;A>C 3673;165|157 Ref Hom;A>C 7914;4|292 N N - 19 58991479 58991479 G A snp UTR3 *954C>T SLC27A5 Slc27a5 ENSG00000083807 solute carrier family 27 member 5 chr19:58990879-59023780 The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008] Fatty Liver|Insulin Resistance|Metabolic Syndrome X; diabetes, type 2 Mice homozygous for a null allele exhibit altered lipid homeostasis. Synthesis of bile acids and bile salts via 24-hydroxycholesterol GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006642;triglyceride mobilization;IEA|GO:0006699;bile acid biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0008206;bile acid metabolic process;IEA|GO:0015721;bile acid and bile salt transport;TAS|GO:0015908;fatty acid transport;IEA|GO:0015911;plasma membrane long-chain fatty acid transport;IEA|GO:0046951;ketone body biosynthetic process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IEA|GO:0005524;ATP binding;IEA|GO:0015245;fatty acid transporter activity;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0047747;cholate-CoA ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC27A5 https://www.uniprot.org/uniprot/Q9Y2P5 https://www.ncbi.nlm.nih.gov/omim/?term=603314 http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A5&submit=Quick%0D%1838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A5 rs882609 0.450479 0 0 1 0 0 intronic intronic UTR3 ZNF446 ZNF446 ENSG00000083807(ENST00000595851:c.*954C>T) Na Na Na Na Na Na Het;G>A 446;14|19 Ref Hom;G>A 675;0|24 N N - 19 5903807 5903807 G T snp UTR5 -36071C>A FUT5 ENSG00000130383 fucosyltransferase 5 chr19:5865837-5903798 GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0036065;fucosylation;IEA|GO:0042355;L-fucose catabolic process;NAS GO:0000139;Golgi membrane;IBA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA GO:0008417;fucosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0017060;3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity;IEA|GO:0046920;alpha-(1->3)-fucosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FUT5 https://www.uniprot.org/uniprot/Q11128 https://www.ncbi.nlm.nih.gov/omim/?term=136835 http://www.informatics.jax.org/searchtool/Search.do?query=FUT5&submit=Quick%0D%6364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FUT5 rs8108064 0.68151 0 0.6750 1 0 0 UTR5 UTR5 upstream NDUFA11(NM_001193375:c.-88C>A,NM_175614:c.-88C>A) FUT5(uc010duo.3:c.-36071C>A),NDUFA11(uc002mdp.2:c.-88C>A,uc002mdq.2:c.-88C>A) ENSG00000130383,ENSG00000174886,ENSG00000267740 Na Na Na Na Na Na Het;G>T 2117;75|96 Het;G>T 1319;81|63 Hom;G>T 4488;0|161 N N - 19 5905141 5905141 G A snp intronic VMAC Vmac ENSG00000187650 vimentin type intermediate filament associated coiled-coil protein chr19:5904869-5910864 GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/VMAC https://www.ncbi.nlm.nih.gov/omim/?term=617204 http://www.informatics.jax.org/searchtool/Search.do?query=VMAC&submit=Quick%0D%15864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VMAC rs10406399 0.680911 0.7190 0.7323 1 0 0 intronic intronic intronic VMAC VMAC ENSG00000187650,ENSG00000267314 Na Na Na Na Na Na Het;G>A 160;4|7 Het;G>A 180;6|7 Hom;G>A 217;0|8 N N - 19 59085089 59085089 A G snp ncRNA_exonic MZF1-AS1 rs55800631 0.757388 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic MZF1-AS1 LOC100131691(uc002qtm.4:c.*685A>G) ENSG00000267858 Na Na Na Na Na Na Het;A>G 3282;160|137 Het;A>G 2309;115|93 Hom;A>G 7211;0|243 N N - 19 59093239 59093239 T C snp ncRNA_exonic CENPBD1P1 rs10448 0.549521 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic CENPBD1P1 MGC2752(uc010eux.4:c.-150T>C) ENSG00000213753 Na Na Na Na Na Na Het;T>C 3023;118|129 Ref Hom;T>C 4712;0|161 N N - 19 59093464 59093464 C T snp stopgain C76T Q26X polar,hydrophilic,neutral MGC2752 rs7910 0.541933 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic CENPBD1P1 MGC2752 ENSG00000213753,ENSG00000268784 Na stopgain Na Na MGC2752:uc010eux.4:exon2:c.C76T:p.Q26X, Na Het;C>T 5310;136|146 Ref Hom;C>T 6976;0|168 N N - 19 59093484 59093484 G T snp synonymous SNV G96T G32G aliphatic,neutral aliphatic,neutral MGC2752 rs3499 0.58746 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic CENPBD1P1 MGC2752 ENSG00000213753,ENSG00000268784 Na synonymous SNV Na Na MGC2752:uc010eux.4:exon2:c.G96T:p.G32G, Na Het;G>T 4949;129|133 Ref Hom;G>T 6626;0|157 N N - 19 59094453 59094453 A C snp ncRNA_exonic CENPBD1P1 rs3211055 0.546725 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic CENPBD1P1 MGC2752(uc010eux.4:c.*477A>C) ENSG00000213753 Na Na Na Na Na Na Het;A>C 3378;130|134 Ref Hom;A>C 6882;0|244 N N - 19 59094709 59094709 C G snp ncRNA_exonic CENPBD1P1 rs3752108 0.547324 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic CENPBD1P1 MGC2752(uc010eux.4:c.*733C>G) ENSG00000213753 Na Na Na Na Na Na Het;C>G 1992;64|70 Ref Hom;C>G 3533;0|118 N N - 19 59095126 59095126 G T snp ncRNA_exonic CENPBD1P1 rs8110595 0.758586 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic CENPBD1P1 MGC2752(uc010eux.4:c.*1150G>T) ENSG00000213753 Na Na Na Na Na Na Het;G>T 2278;122|104 Het;G>T 1642;70|76 Hom;G>T 4522;0|159 N N - 19 59102857 59102857 G T snp ncRNA_intronic CENPBD1P1 rs77897007 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic CENPBD1P1(dist=7095),NONE(dist=NONE) MGC2752(dist=7095),NONE(dist=NONE) ENSG00000213753 Na Na Na Na Na Na Het;G>T 196;29|7 Ref Hom;G>T 197;0|5 N N - 19 59102859 59102859 T TCTC indel ncRNA_intronic CENPBD1P1 rs200695243 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic CENPBD1P1(dist=7097),NONE(dist=NONE) MGC2752(dist=7097),NONE(dist=NONE) ENSG00000213753 Na Na Na Na Na Na Het;+CTC 229;30|7 Ref Hom;+CTC 223;0|5 N N - 19 613827 613828 AC A indel intronic HCN2 Hcn2 ENSG00000099822 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 chr19:589893-617159 Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM, Jul 2010] Seizures, Febrile; Type 2 Diabetes| edema | rosiglitazone; Epilepsy, Generalized; seizures, febrile Mice homozygous for mutant alleles exhibit decreased body weight, behavioral/neurological abnormalities, and tremors or absence seizures. HCN channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007267;cell-cell signaling;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0071320;cellular response to cAMP;IDA|GO:0071321;cellular response to cGMP;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IC|GO:0098719;sodium ion import across plasma membrane;IDA|GO:1990573;potassium ion import across plasma membrane;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0098855;HCN channel complex;IDA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005222;intracellular cAMP activated cation channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IMP|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0030552;cAMP binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HCN2 https://www.uniprot.org/uniprot/Q9UL51 https://www.ncbi.nlm.nih.gov/omim/?term=602781 http://www.informatics.jax.org/searchtool/Search.do?query=HCN2&submit=Quick%0D%2339ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HCN2 rs397897595 0.239617 0 0.3169 1 0 0 intronic intronic intronic HCN2 HCN2 ENSG00000099822 Na Na Na Na Na Na Het;-C 571;15|24 Ref Hom;-C 1857;0|62 N N - 19 616509 616509 G A snp UTR3 *35G>A HCN2 Hcn2 ENSG00000099822 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 chr19:589893-617159 Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM, Jul 2010] Seizures, Febrile; Type 2 Diabetes| edema | rosiglitazone; Epilepsy, Generalized; seizures, febrile Mice homozygous for mutant alleles exhibit decreased body weight, behavioral/neurological abnormalities, and tremors or absence seizures. HCN channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007267;cell-cell signaling;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0071320;cellular response to cAMP;IDA|GO:0071321;cellular response to cGMP;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IC|GO:0098719;sodium ion import across plasma membrane;IDA|GO:1990573;potassium ion import across plasma membrane;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0098855;HCN channel complex;IDA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005222;intracellular cAMP activated cation channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;IMP|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005272;sodium channel activity;IEA|GO:0030552;cAMP binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HCN2 https://www.uniprot.org/uniprot/Q9UL51 https://www.ncbi.nlm.nih.gov/omim/?term=602781 http://www.informatics.jax.org/searchtool/Search.do?query=HCN2&submit=Quick%0D%2339ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HCN2 rs55810748 0.202676 0 0.4375 1 0 0 UTR3 UTR3 ncRNA_intronic HCN2(NM_001194:c.*35G>A) HCN2(uc002lpe.3:c.*35G>A) ENSG00000266939 Na Na Na Na Na Na Het;G>A 128;12|8 Ref Hom;G>A 451;0|18 N N - 19 617195 617195 C T snp upstream;downstream ENSG00000266939 rs11670098 0.228634 0 0 1 0 0 downstream downstream upstream;downstream HCN2,POLRMT HCN2,POLRMT ENSG00000266939;ENSG00000099821,ENSG00000099822 Na Na Na Na Na Na Het;C>T 541;11|20 Ref Hom;C>T 561;0|12 N N - 19 617614 617614 G A snp synonymous SNV C3537T I1179I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs41551212 0.0908546 0.1310 0.1355 1 0 0 exonic exonic exonic POLRMT POLRMT ENSG00000099821 synonymous SNV synonymous SNV unknown POLRMT:NM_005035:exon19:c.C3537T:p.I1179I, POLRMT:uc002lpf.1:exon19:c.C3537T:p.I1179I, UNKNOWN Het;G>A 1616;66|69 Ref Hom;G>A 4022;1|140 N N - 19 617963 617963 T G snp intronic POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs41546612 0.219848 0 0 1 0 0 intronic intronic intronic POLRMT POLRMT ENSG00000099821 Na Na Na Na Na Na Het;T>G 487;9|15 Ref Hom;T>G 455;0|12 N N - 19 618854 618854 G A snp intronic POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs11668261 0.207268 0 0 1 0 0 intronic intronic intronic POLRMT POLRMT ENSG00000099821 Na Na Na Na Na Na Het;G>A 219;9|9 Ref Hom;G>A 316;0|11 N N - 19 621063 621063 A G snp synonymous SNV T2635C L879L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs76890343 0.221446 0.1569 0.1990 1 0 0 exonic exonic exonic POLRMT POLRMT ENSG00000099821 synonymous SNV synonymous SNV unknown POLRMT:NM_005035:exon10:c.T2635C:p.L879L, POLRMT:uc002lpf.1:exon10:c.T2635C:p.L879L, UNKNOWN Het;A>G 677;31|19 Ref Hom;A>G 1405;0|31 N N - 19 621070 621070 G A snp synonymous SNV C2628T D876D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs77809401 0.204872 0.1628 0.1941 1 0 0 exonic exonic exonic POLRMT POLRMT ENSG00000099821 synonymous SNV synonymous SNV unknown POLRMT:NM_005035:exon10:c.C2628T:p.D876D, POLRMT:uc002lpf.1:exon10:c.C2628T:p.D876D, UNKNOWN Het;G>A 708;31|20 Ref Hom;G>A 1454;0|34 N N - 19 623003 623003 G A snp intronic POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs2017580 0.0898562 0.1265 0.1415 1 0 0 intronic intronic intronic POLRMT POLRMT ENSG00000099821 Na Na Na Na Na Na Het;G>A 836;43|35 Ref Hom;G>A 2252;0|85 N N - 19 623080 623080 A AT indel intronic POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs398048311 0.201078 0 0 1 0 0 intronic intronic intronic POLRMT POLRMT ENSG00000099821 Na Na Na Na Na Na Het;+T 305;12|11 Ref Hom;+T 754;0|22 N N - 19 629503 629503 G A snp intronic POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs2283577 0.207668 0.1705 0.1931 1 0 0 intronic intronic intronic POLRMT POLRMT ENSG00000099821 Na Na Na Na Na Na Het;G>A 72;18|5 Ref Hom;G>A 556;0|19 N N - 19 629846 629846 G A snp synonymous SNV C516T A172A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral POLRMT Polrmt ENSG00000099821 RNA polymerase mitochondrial chr19:617223-633597 This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; bladder cancer Mice homozygous for a null mutation die before organogenesis. Transcriptional activation of mitochondrial biogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0034245;mitochondrial DNA-directed RNA polymerase complex;IBA|GO:0042645;mitochondrial nucleoid;IDA GO:0000997;mitochondrial RNA polymerase core promoter sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/POLRMT https://www.uniprot.org/uniprot/O00411 https://www.ncbi.nlm.nih.gov/omim/?term=601778 http://www.informatics.jax.org/searchtool/Search.do?query=POLRMT&submit=Quick%0D%2338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLRMT rs11550305 0.0982428 0.1378 0.1569 1 0 0 exonic exonic exonic POLRMT POLRMT ENSG00000099821 synonymous SNV synonymous SNV unknown POLRMT:NM_005035:exon3:c.C516T:p.A172A, POLRMT:uc002lpf.1:exon3:c.C516T:p.A172A, UNKNOWN Het;G>A 809;48|36 Ref Hom;G>A 1745;1|64 N N - 19 6333476 6333476 G A snp synonymous SNV C87T Y29Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic ACER1 Acer1 ENSG00000167769 alkaline ceramidase 1 chr19:6306153-6333640 Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010] Mice homozygous for a null allele show increased ceramide levels, hair shaft abnormalities, cyclic alopecia, epidermal hyperplasia, sebaceous gland and infundibulum expansion, increased epidermal water loss, and hypermetabolism along with decreased body weight and adipose tissue depots during aging. Sphingolipid de novo biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006672;ceramide metabolic process;IEA|GO:0008544;epidermis development;IEP|GO:0010446;response to alkaline pH;IDA|GO:0019216;regulation of lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0030154;cell differentiation;IMP|GO:0030216;keratinocyte differentiation;IEP|GO:0046512;sphingosine biosynthetic process;IDA|GO:0046514;ceramide catabolic process;IEA|GO:0071277;cellular response to calcium ion;IDA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0017040;ceramidase activity;TAS|GO:0071633;dihydroceramidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACER1 https://www.ncbi.nlm.nih.gov/omim/?term=613491 http://www.informatics.jax.org/searchtool/Search.do?query=ACER1&submit=Quick%0D%12109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACER1 rs16993553 0.0900559 0.0697 0.1689 1 0 0 exonic exonic exonic ACER1 ACER1 ENSG00000167769 synonymous SNV synonymous SNV unknown ACER1:NM_133492:exon1:c.C87T:p.Y29Y, ACER1:uc002mel.2:exon1:c.C87T:p.Y29Y, UNKNOWN Het;G>A 230;10|12 Het;G>A 394;15|20 Hom;G>A 876;0|35 N N - 19 6433889 6433889 T A snp upstream SLC25A41 Slc25a41 ENSG00000181240 solute carrier family 25 member 41 chr19:6426048-6433790 SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015866;ADP transport;IEA|GO:0015867;ATP transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005347;ATP transmembrane transporter activity;IBA|GO:0015217;ADP transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A41 https://www.ncbi.nlm.nih.gov/omim/?term=610822 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A41&submit=Quick%0D%14597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A41 rs142693265 0.00399361 0 0 1 0 0 upstream upstream upstream SLC25A41 SLC25A41 ENSG00000181240 Na Na Na Na Na Na Het;T>A 227;10|10 Het;T>A 127;12|7 Hom;T>A 295;0|11 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6685983 6685983 G C snp intronic C3 C3 ENSG00000125730 complement C3 chr19:6677715-6730573 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015] cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. Regulation of Complement cascade GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C3 https://www.uniprot.org/uniprot/P01024 https://hpo.jax.org/app/browse/search?q=C3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120700 http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3 rs2241392 0.467851 0 0 1 0 0 intronic intronic intronic C3 C3 ENSG00000125730 Na Na Na Na Na Na Het;G>C 243;10|8 Het;G>C 311;1|11 Hom;G>C 738;0|20 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6693654 6693654 G C snp intronic C3 C3 ENSG00000125730 complement C3 chr19:6677715-6730573 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015] cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. Regulation of Complement cascade GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C3 https://www.uniprot.org/uniprot/P01024 https://hpo.jax.org/app/browse/search?q=C3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120700 http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3 rs11569491 0.0341454 0 0 1 0 0 intronic intronic intronic C3 C3 ENSG00000125730 Na Na Na Na Na Na Het;G>C 204;3|8 Ref Hom;G>C 165;0|6 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6694399 6694399 G A snp intronic C3 C3 ENSG00000125730 complement C3 chr19:6677715-6730573 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015] cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. Regulation of Complement cascade GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C3 https://www.uniprot.org/uniprot/P01024 https://hpo.jax.org/app/browse/search?q=C3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120700 http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3 rs385791 0.0593051 0.0430 0.0328 1 0 0 intronic intronic intronic C3 C3 ENSG00000125730 Na Na Na Na Na Na Het;G>A 322;14|11 Het;G>A 441;12|17 Hom;G>A 433;0|13 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6709848 6709848 C T snp synonymous SNV G1692A V564V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C3 C3 ENSG00000125730 complement C3 chr19:6677715-6730573 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015] cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. Regulation of Complement cascade GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C3 https://www.uniprot.org/uniprot/P01024 https://hpo.jax.org/app/browse/search?q=C3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120700 http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3 rs2230204 0.435304 0.3604 0.3520 1 0 0 exonic exonic exonic C3 C3 ENSG00000125730 synonymous SNV synonymous SNV unknown C3:NM_000064:exon14:c.G1692A:p.V564V, C3:uc002mfm.3:exon14:c.G1692A:p.V564V, UNKNOWN Het;C>T 1685;79|81 Het;C>T 1042;62|51 Hom;C>T 2320;0|89 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6736607 6736607 A G snp nonsynonymous SNV T236C L79P aliphatic,hydrophobic,neutral hydrophobic,neutral GPR108 Gpr108 ENSG00000125734 G protein-coupled receptor 108 chr19:6729925-6737614 Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Mice homozygous for a null allele exhibit increased LPS-induced mortality. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR108 https://www.uniprot.org/uniprot/Q9NPR9 http://www.informatics.jax.org/searchtool/Search.do?query=GPR108&submit=Quick%0D%5821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR108 rs4807897 0.0091853 0.0086 0.0128 0.00 0 13 exonic exonic exonic GPR108 GPR108 ENSG00000125734 nonsynonymous SNV nonsynonymous SNV unknown GPR108:NM_001080452:exon2:c.T236C:p.L79P, GPR108:uc002mfp.3:exon2:c.T236C:p.L79P, UNKNOWN Het;A>G 703;29|31 Het;A>G 603;34|28 Hom;A>G 2459;0|89 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6744903 6744903 A C snp synonymous SNV A882C A294A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRIP10 Trip10 ENSG00000125733 thyroid hormone receptor interactor 10 chr19:6737936-6751537 Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0007154;cell communication;NAS|GO:0007165;signal transduction;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0061024;membrane organization;TAS GO:0001891;phagocytic cup;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRIP10 https://www.uniprot.org/uniprot/Q15642 https://www.ncbi.nlm.nih.gov/omim/?term=604504 http://www.informatics.jax.org/searchtool/Search.do?query=TRIP10&submit=Quick%0D%5820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP10 rs62125118 0.00958466 0.0103 0.0126 1 0 0 exonic exonic exonic TRIP10 TRIP10 ENSG00000125733 synonymous SNV synonymous SNV unknown TRIP10:NM_001288963:exon9:c.A882C:p.A294A,TRIP10:NM_001288962:exon9:c.A882C:p.A294A,TRIP10:NM_004240:exon9:c.A882C:p.A294A, TRIP10:uc002mfr.3:exon9:c.A882C:p.A294A,TRIP10:uc002mfs.3:exon9:c.A882C:p.A294A,TRIP10:uc010dux.2:exon9:c.A882C:p.A294A, UNKNOWN Het;A>C 1845;97|82 Het;A>C 1221;89|57 Hom;A>C 4233;0|149 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6744953 6744953 G A snp nonsynonymous SNV G932A R311Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral TRIP10 Trip10 ENSG00000125733 thyroid hormone receptor interactor 10 chr19:6737936-6751537 Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0007154;cell communication;NAS|GO:0007165;signal transduction;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0061024;membrane organization;TAS GO:0001891;phagocytic cup;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRIP10 https://www.uniprot.org/uniprot/Q15642 https://www.ncbi.nlm.nih.gov/omim/?term=604504 http://www.informatics.jax.org/searchtool/Search.do?query=TRIP10&submit=Quick%0D%5820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP10 rs148404026 0 7.7e-05 0.0001 0.46 6 13 exonic exonic exonic TRIP10 TRIP10 ENSG00000125733 nonsynonymous SNV nonsynonymous SNV unknown TRIP10:NM_001288963:exon9:c.G932A:p.R311Q,TRIP10:NM_001288962:exon9:c.G932A:p.R311Q,TRIP10:NM_004240:exon9:c.G932A:p.R311Q, TRIP10:uc002mfr.3:exon9:c.G932A:p.R311Q,TRIP10:uc002mfs.3:exon9:c.G932A:p.R311Q,TRIP10:uc010dux.2:exon9:c.G932A:p.R311Q, UNKNOWN Het;G>A 1386;75|65 Het;G>A 1060;76|53 Hom;G>A 3107;2|123 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6906321 6906321 T C snp intronic ADGRE1 Adgre1 rs447684 0.31869 0 0 1 0 0 intronic intronic intronic ADGRE1 EMR1 ENSG00000174837 Na Na Na Na Na Na Het;T>C 134;6|5 Ref Hom;T>C 214;0|7 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6925013 6925013 G A snp intronic ADGRE1 Adgre1 rs10424159 0.523562 0 0 1 0 0 intronic intronic intronic ADGRE1 EMR1 ENSG00000174837 Na Na Na Na Na Na Het;G>A 144;4|5 Het;G>A 138;4|5 Hom;G>A 80;0|3 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6926355 6926355 T C snp intronic ADGRE1 Adgre1 rs4807915 0.308706 0.3645 0.2749 1 0 0 intronic intronic intronic ADGRE1 EMR1 ENSG00000174837 Na Na Na Na Na Na Het;T>C 584;18|16 Het;T>C 821;8|21 Hom;T>C 1250;0|29 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6926378 6926378 T C snp nonsynonymous SNV T1457C M486T hydrophobic,neutral polar,hydrophilic,neutral EMR1 rs2228539 0.319688 0.3793 0.2768 0.25 3 12 exonic exonic exonic ADGRE1 EMR1 ENSG00000174837 nonsynonymous SNV nonsynonymous SNV unknown ADGRE1:NM_001256252:exon15:c.T1832C:p.M611T,ADGRE1:NM_001256254:exon13:c.T1565C:p.M522T,ADGRE1:NM_001256253:exon15:c.T1793C:p.M598T,ADGRE1:NM_001974:exon16:c.T1988C:p.M663T,ADGRE1:NM_001256255:exon13:c.T1457C:p.M486T, EMR1:uc010xjj.3:exon13:c.T1457C:p.M486T,EMR1:uc010dvb.4:exon15:c.T1832C:p.M611T,EMR1:uc002mfw.4:exon16:c.T1988C:p.M663T,EMR1:uc010dvc.4:exon15:c.T1793C:p.M598T,EMR1:uc010xji.3:exon13:c.T1565C:p.M522T, UNKNOWN Het;T>C 729;26|22 Het;T>C 825;10|22 Hom;T>C 1535;0|40 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6937172 6937172 C A snp intronic ADGRE1 Adgre1 rs12981770 0.10603 0 0 1 0 0 intronic intronic intronic ADGRE1 EMR1 ENSG00000174837 Na Na Na Na Na Na Het;C>A 499;12|18 Het;C>A 224;6|9 Hom;C>A 498;0|15 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 6953167 6953167 C G snp ncRNA_exonic ADGRE4P rs11085208 0.223842 0 0.2102 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic ADGRE4P EMR4P(uc010xjk.2:c.*37G>C) ENSG00000268758 Na Na Na Na Na Na Het;C>G 2396;118|105 Het;C>G 2393;130|114 Hom;C>G 4143;6|146 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7005634 7005634 C A snp ncRNA_exonic FLJ25758 rs62126093 0.252596 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FLJ25758 FLJ25758 ENSG00000269761 Na Na Na Na Na Na Het;C>A 2045;108|87 Het;C>A 1070;73|42 Hom;C>A 4892;0|164 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7083629 7083629 A G snp synonymous SNV A1167G S389S polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF557 ENSG00000130544 zinc finger protein 557 chr19:7069455-7087979 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF557 https://www.uniprot.org/uniprot/Q8N988 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF557&submit=Quick%0D%6389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF557 rs966591 0.445687 0.4260 0.4150 1 0 0 exonic exonic exonic ZNF557 ZNF557 ENSG00000130544 synonymous SNV synonymous SNV unknown ZNF557:NM_001044387:exon8:c.A1167G:p.S389S,ZNF557:NM_024341:exon8:c.A1167G:p.S389S,ZNF557:NM_001044388:exon8:c.A1146G:p.S382S, ZNF557:uc002mgc.3:exon8:c.A1167G:p.S389S,ZNF557:uc002mga.3:exon8:c.A1167G:p.S389S,ZNF557:uc002mgb.3:exon8:c.A1146G:p.S382S, UNKNOWN Het;A>G 1458;65|63 Het;A>G 1520;54|63 Hom;A>G 3895;0|136 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7083761 7083761 A G snp UTR3 *6A>G ZNF557 ENSG00000130544 zinc finger protein 557 chr19:7069455-7087979 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF557 https://www.uniprot.org/uniprot/Q8N988 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF557&submit=Quick%0D%6389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF557 rs8110740 0.445687 0.4265 0.4189 1 0 0 UTR3 UTR3 UTR3 ZNF557(NM_024341:c.*6A>G,NM_001044388:c.*6A>G,NM_001044387:c.*6A>G) ZNF557(uc002mga.3:c.*6A>G,uc002mgb.3:c.*6A>G,uc002mgc.3:c.*6A>G) ENSG00000130544(ENST00000252840:c.*6A>G,ENST00000414706:c.*6A>G,ENST00000439035:c.*6A>G) Na Na Na Na Na Na Het;A>G 1236;64|57 Het;A>G 1469;64|65 Hom;A>G 3337;0|123 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7443940 7443940 A G snp intronic AC119396.1 rs72992629 0.448083 0 0 1 0 0 intergenic intergenic intronic INSR(dist=149929),ARHGEF18(dist=16059) INSR(dist=149929),ARHGEF18(dist=3780) ENSG00000263264 Na Na Na Na Na Na Het;A>G 791;50|34 Het;A>G 861;40|37 Hom;A>G 1803;2|70 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7532576 7532576 C T snp intronic ARHGEF18 Arhgef18 ENSG00000104880 Rho/Rac guanine nucleotide exchange factor 18 chr19:7459999-7537363 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] Mice homozygous for a gene trap insertion exhibit greatly reduced viability. G alpha (12/13) signalling events GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18 https://www.uniprot.org/uniprot/Q6ZSZ5 https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616432 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18 rs2303143 0.240815 0 0.1785 1 0 0 intronic intronic intronic ARHGEF18 ARHGEF18 ENSG00000104880,ENSG00000268861 Na Na Na Na Na Na Het;C>T 683;15|18 Het;C>T 624;16|17 Hom;C>T 1356;0|31 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7532577 7532577 G A snp intronic ARHGEF18 Arhgef18 ENSG00000104880 Rho/Rac guanine nucleotide exchange factor 18 chr19:7459999-7537363 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] Mice homozygous for a gene trap insertion exhibit greatly reduced viability. G alpha (12/13) signalling events GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18 https://www.uniprot.org/uniprot/Q6ZSZ5 https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616432 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18 rs2303144 0.241014 0 0.1777 1 0 0 intronic intronic intronic ARHGEF18 ARHGEF18 ENSG00000104880,ENSG00000268861 Na Na Na Na Na Na Het;G>A 683;15|18 Het;G>A 624;17|17 Hom;G>A 1356;0|31 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7537808 7537808 G A snp nonsynonymous SNV C440T S147L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral LOC100128573 Na 0 0 0 1 0 0 ncRNA_exonic exonic downstream LOC100128573 LOC100128573 ENSG00000104880 Na nonsynonymous SNV Na Na LOC100128573:uc010xjn.2:exon1:c.C440T:p.S147L, Na Het;G>A 214;13|9 Het;G>A 150;7|8 Hom;G>A 460;0|17 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7539640 7539644 AGTGT A indel intergenic LOC100128573 Na 0 0 0 1 0 0 intergenic intergenic intergenic LOC100128573(dist=1393),PEX11G(dist=2112) LOC100128573(dist=1393),PEX11G(dist=2112) ENSG00000104880(dist=2277),ENSG00000104883(dist=2117) Na Na Na Na Na Na Het;-GTGT 387;4|12 Ref Hom;-GTGT 98;0|3 N N - 19 756985 756985 T G snp synonymous SNV T39G P13P hydrophobic,neutral hydrophobic,neutral MISP Misp ENSG00000099812 mitotic spindle positioning chr19:751126-764319 The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016] GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MISP https://www.uniprot.org/uniprot/Q8IVT2 https://www.ncbi.nlm.nih.gov/omim/?term=615289 http://www.informatics.jax.org/searchtool/Search.do?query=MISP&submit=Quick%0D%2335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MISP rs8110536 0.1877 0.1350 0.2533 1 0 0 exonic exonic exonic MISP MISP ENSG00000099812 synonymous SNV synonymous SNV unknown MISP:NM_173481:exon2:c.T39G:p.P13P, MISP:uc002lpo.3:exon2:c.T39G:p.P13P, UNKNOWN Het;T>G 1234;35|52 Ref Hom;T>G 2963;0|109 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7625864 7625864 G GC indel intronic PNPLA6 Pnpla6 ENSG00000032444 patatin like phospholipase domain containing 6 chr19:7598890-7626650 This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] drug-related genes Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. Glycerophospholipid catabolism GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0032502;developmental process;IBA|GO:0046470;phosphatidylcholine metabolic process;IEA|GO:0046475;glycerophospholipid catabolic process;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004622;lysophospholipase activity;EXP|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNPLA6 https://www.uniprot.org/uniprot/Q8IY17 https://hpo.jax.org/app/browse/search?q=PNPLA6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603197 http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA6&submit=Quick%0D%748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA6 rs35902090 0.183307 0.1623 0.2269 1 0 0 intronic intronic intronic PNPLA6 PNPLA6 ENSG00000032444 Na Na Na Na Na Na Het;+C 402;9|17 Het;+C 334;4|14 Hom;+C 511;0|18 N N - 19 764389 764389 A G snp downstream MISP Misp ENSG00000099812 mitotic spindle positioning chr19:751126-764319 The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016] GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MISP https://www.uniprot.org/uniprot/Q8IVT2 https://www.ncbi.nlm.nih.gov/omim/?term=615289 http://www.informatics.jax.org/searchtool/Search.do?query=MISP&submit=Quick%0D%2335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MISP rs6510945 0.832668 0 0 1 0 0 downstream downstream downstream MISP MISP ENSG00000099812 Na Na Na Na Na Na Het;A>G 415;31|21 Het;A>G 639;20|28 Hom;A>G 990;0|34 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7647541 7647541 C T snp intergenic PNPLA6 Pnpla6 ENSG00000032444 patatin like phospholipase domain containing 6 chr19:7598890-7626650 This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] drug-related genes Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. Glycerophospholipid catabolism GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0032502;developmental process;IBA|GO:0046470;phosphatidylcholine metabolic process;IEA|GO:0046475;glycerophospholipid catabolic process;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004622;lysophospholipase activity;EXP|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNPLA6 https://www.uniprot.org/uniprot/Q8IY17 https://hpo.jax.org/app/browse/search?q=PNPLA6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603197 http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA6&submit=Quick%0D%748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA6 rs74948735 0.0878594 0 0 1 0 0 intergenic intergenic intergenic PNPLA6(dist=20888),CAMSAP3(dist=13247) PNPLA6(dist=20888),CAMSAP3(dist=13247) ENSG00000032444(dist=20891),ENSG00000076826(dist=13247) Na Na Na Na Na Na Het;C>T 38;2|2 Ref Hom;C>T 96;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7688838 7688838 A G snp intronic XAB2 Xab2 ENSG00000076924 XPA binding protein 2 chr19:7684411-7694451 multiple sclerosis Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001824;blastocyst development;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IDA|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008380;RNA splicing;IEA|GO:0021987;cerebral cortex development;IEA GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/XAB2 https://www.uniprot.org/uniprot/Q9HCS7 https://www.ncbi.nlm.nih.gov/omim/?term=610850 http://www.informatics.jax.org/searchtool/Search.do?query=XAB2&submit=Quick%0D%1598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XAB2 rs732457 0.296725 0 0 1 0 0 intronic intronic intronic XAB2 XAB2 ENSG00000076924 Na Na Na Na Na Na Het;A>G 150;16|7 Het;A>G 310;7|11 Hom;A>G 832;0|29 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7693231 7693231 C T snp intronic XAB2 Xab2 ENSG00000076924 XPA binding protein 2 chr19:7684411-7694451 multiple sclerosis Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001824;blastocyst development;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IDA|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008380;RNA splicing;IEA|GO:0021987;cerebral cortex development;IEA GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/XAB2 https://www.uniprot.org/uniprot/Q9HCS7 https://www.ncbi.nlm.nih.gov/omim/?term=610850 http://www.informatics.jax.org/searchtool/Search.do?query=XAB2&submit=Quick%0D%1598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XAB2 rs4134819 0.171526 0.0482 0.0755 1 0 0 intronic intronic intronic XAB2 XAB2 ENSG00000076924 Na Na Na Na Na Na Het;C>T 1277;59|57 Het;C>T 1042;46|47 Hom;C>T 2593;0|91 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7694662 7694662 T C snp UTR5 -58T>C PET100 Pet100 ENSG00000229833 PET100 homolog chr19:7694623-7696842 Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] MITOCHONDRIAL COMPLEX IV DEFICIENCY GO:0033617;mitochondrial respiratory chain complex IV assembly;IBA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PET100 https://hpo.jax.org/app/browse/search?q=PET100&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614770 http://www.informatics.jax.org/searchtool/Search.do?query=PET100&submit=Quick%0D%18936ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PET100 rs3760675 0.172125 0 0 1 0 0 upstream upstream UTR5 PET100,XAB2 PET100,XAB2 ENSG00000229833(ENST00000594797:c.-58T>C) Na Na Na Na Na Na Het;T>C 1486;81|66 Het;T>C 1230;52|60 Hom;T>C 4101;0|153 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7712417 7712417 A G snp UTR3 *1094A>G STXBP2 Stxbp2 ENSG00000076944 syntaxin binding protein 2 chr19:7701767-7712759 This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013] HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 5 Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. Platelet degranulation GO:0001909;leukocyte mediated cytotoxicity;IMP|GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043304;regulation of mast cell degranulation;ISS|GO:0043312;neutrophil degranulation;IEP GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0042589;zymogen granule membrane;IEA|GO:0044194;cytolytic granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0030348;syntaxin-3 binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP2 https://www.uniprot.org/uniprot/Q15833 https://hpo.jax.org/app/browse/search?q=STXBP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601717 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP2&submit=Quick%0D%1600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP2 rs2303113 0.196086 0.0636 0.0832 1 0 0 intronic UTR3 intronic STXBP2 STXBP2(uc002mhe.1:c.*1094A>G) ENSG00000076944 Na Na Na Na Na Na Het;A>G 2344;116|104 Het;A>G 1658;114|79 Hom;A>G 5088;2|184 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7829891 7829891 G A snp intronic CLEC4M Cd209a ENSG00000104938 C-type lectin domain family 4 member M chr19:7828035-7834491 This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] mother-to-child transmission of HIV-1; Cell Adhesion Molecules; Hepatitis C|HIV Infections; Severe Acute Respiratory Syndrome; SARS infection; clinical courses of HIV; HIV Infections|Sexually Transmitted Diseases; null; HIV Infections; HIV; hepatitis C; Communicable Diseases|Severe Acute Respiratory Syndrome; Coronary Artery Disease; Hepatitis C|Remission, Spontaneous Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite altered lymphocyte numbers and increased inflammatory response.. GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006897;endocytosis;IEA|GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0009988;cell-cell recognition;TAS|GO:0010468;regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;TAS|GO:0019062;virion attachment to host cell;TAS|GO:0019079;viral genome replication;NAS|GO:0019882;antigen processing and presentation;NAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0045087;innate immune response;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046968;peptide antigen transport;NAS|GO:0075733;intracellular transport of virus;TAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;NAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IDA|GO:0004872;receptor activity;NAS|GO:0005537;mannose binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030369;ICAM-3 receptor activity;NAS|GO:0042605;peptide antigen binding;NAS|GO:0046790;virion binding;TAS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLEC4M https://www.uniprot.org/uniprot/Q9H2X3 https://www.ncbi.nlm.nih.gov/omim/?term=605872 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC4M&submit=Quick%0D%3206ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC4M rs55731794 0.348642 0 0 1 0 0 intronic intronic intronic CLEC4M CLEC4M ENSG00000104938 Na Na Na Na Na Na Het;G>A 126;5|5 Het;G>A 139;4|5 Hom;G>A 363;0|11 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7832664 7832664 T C snp UTR3 *1536T>C CLEC4M Cd209a ENSG00000104938 C-type lectin domain family 4 member M chr19:7828035-7834491 This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] mother-to-child transmission of HIV-1; Cell Adhesion Molecules; Hepatitis C|HIV Infections; Severe Acute Respiratory Syndrome; SARS infection; clinical courses of HIV; HIV Infections|Sexually Transmitted Diseases; null; HIV Infections; HIV; hepatitis C; Communicable Diseases|Severe Acute Respiratory Syndrome; Coronary Artery Disease; Hepatitis C|Remission, Spontaneous Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite altered lymphocyte numbers and increased inflammatory response.. GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006897;endocytosis;IEA|GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0009988;cell-cell recognition;TAS|GO:0010468;regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;TAS|GO:0019062;virion attachment to host cell;TAS|GO:0019079;viral genome replication;NAS|GO:0019882;antigen processing and presentation;NAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0045087;innate immune response;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046968;peptide antigen transport;NAS|GO:0075733;intracellular transport of virus;TAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;NAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IDA|GO:0004872;receptor activity;NAS|GO:0005537;mannose binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030369;ICAM-3 receptor activity;NAS|GO:0042605;peptide antigen binding;NAS|GO:0046790;virion binding;TAS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLEC4M https://www.uniprot.org/uniprot/Q9H2X3 https://www.ncbi.nlm.nih.gov/omim/?term=605872 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC4M&submit=Quick%0D%3206ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC4M rs2161525 0.398762 0 0 1 0 0 intronic UTR3 intronic CLEC4M CLEC4M(uc002mhy.2:c.*1536T>C) ENSG00000104938 Na Na Na Na Na Na Het;T>C 235;7|7 Het;T>C 92;1|4 Hom;T>C 143;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7853275 7853275 G A snp ncRNA_exonic CLEC4GP1 rs77872764 0.086262 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic CLEC4GP1 CLEC4GP1 ENSG00000268297 Na Na Na Na Na Na Het;G>A 2718;101|125 Het;G>A 1618;111|83 Hom;G>A 4255;2|169 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7853716 7853716 C G snp ncRNA_exonic CLEC4GP1 rs36056976 0.0864617 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CLEC4GP1 CLEC4GP1 ENSG00000268297 Na Na Na Na Na Na Het;C>G 1519;54|66 Het;C>G 1145;48|51 Hom;C>G 2121;2|83 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7987801 7987801 T G snp UTR3 *152T>G SNAPC2 Snapc2 ENSG00000104976 small nuclear RNA activating complex polypeptide 2 chr19:7985201-7988135 This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] Mice homozygous for a knock-out allele show complete embryonic lethality before implantation associated with abnormal morula morphology, increased cell death, and failure of blastocyst formation. RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0009301;snRNA transcription;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SNAPC2 https://www.uniprot.org/uniprot/Q13487 https://www.ncbi.nlm.nih.gov/omim/?term=605076 http://www.informatics.jax.org/searchtool/Search.do?query=SNAPC2&submit=Quick%0D%3220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPC2 rs9654 0.108427 0 0 1 0 0 UTR3 UTR3 UTR3 SNAPC2(NM_003083:c.*152T>G) SNAPC2(uc002miw.2:c.*152T>G) ENSG00000104976(ENST00000221573:c.*152T>G,ENST00000597584:c.*152T>G) Na Na Na Na Na Na Het;T>G 2299;126|100 Het;T>G 1499;87|67 Hom;T>G 3688;0|137 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 7992816 7992816 C T snp intronic TIMM44 Timm44 ENSG00000104980 translocase of inner mitochondrial membrane 44 chr19:7991603-8008805 This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial protein import GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0051087;chaperone binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TIMM44 https://www.uniprot.org/uniprot/O43615 https://www.ncbi.nlm.nih.gov/omim/?term=605058 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM44&submit=Quick%0D%3222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM44 rs530574570 0.000199681 0 0 1 0 0 intronic intronic intronic TIMM44 TIMM44 ENSG00000104980 Na Na Na Na Na Na Het;C>T 278;16|10 Het;C>T 214;6|7 Hom;C>T 413;0|12 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8120997 8120997 T C snp intronic CCL25 Ccl25 ENSG00000131142 C-C motif chemokine ligand 25 chr19:8117651-8127534 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Hyperparathyroidism, Secondary; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit impaired accumulation of antigen-specific CD8+ T lymphocytes within both lamina propria and epithelium of the small intestine. G alpha (i) signalling events GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0050900;leukocyte migration;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005179;hormone activity;TAS|GO:0008009;chemokine activity;IDA|GO:0031735;CCR10 chemokine receptor binding;IDA|GO:0042379;chemokine receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCL25 https://www.uniprot.org/uniprot/O15444 https://www.ncbi.nlm.nih.gov/omim/?term=602565 http://www.informatics.jax.org/searchtool/Search.do?query=CCL25&submit=Quick%0D%6502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL25 rs62124690 0.0389377 0.0600 0.0661 1 0 0 intronic intronic intronic CCL25 CCL25 ENSG00000131142 Na Na Na Na Na Na Het;T>C 173;28|10 Het;T>C 492;24|20 Hom;T>C 1071;0|35 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8121360 8121360 A G snp nonsynonymous SNV A302G H101R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CCL25 Ccl25 ENSG00000131142 C-C motif chemokine ligand 25 chr19:8117651-8127534 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Hyperparathyroidism, Secondary; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit impaired accumulation of antigen-specific CD8+ T lymphocytes within both lamina propria and epithelium of the small intestine. G alpha (i) signalling events GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0050900;leukocyte migration;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005179;hormone activity;TAS|GO:0008009;chemokine activity;IDA|GO:0031735;CCR10 chemokine receptor binding;IDA|GO:0042379;chemokine receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCL25 https://www.uniprot.org/uniprot/O15444 https://www.ncbi.nlm.nih.gov/omim/?term=602565 http://www.informatics.jax.org/searchtool/Search.do?query=CCL25&submit=Quick%0D%6502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL25 rs2032887 0.217652 0.2446 0.2323 0.08 1 13 exonic exonic exonic CCL25 CCL25 ENSG00000131142 nonsynonymous SNV nonsynonymous SNV unknown CCL25:NM_005624:exon4:c.A302G:p.H101R,CCL25:NM_001201359:exon4:c.A302G:p.H101R, CCL25:uc002mjc.4:exon4:c.A302G:p.H101R,CCL25:uc002mjd.3:exon4:c.A302G:p.H101R, UNKNOWN Het;A>G 481;46|24 Het;A>G 511;24|25 Hom;A>G 1404;0|46 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8122927 8122927 G A snp intronic CCL25 Ccl25 ENSG00000131142 C-C motif chemokine ligand 25 chr19:8117651-8127534 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Hyperparathyroidism, Secondary; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit impaired accumulation of antigen-specific CD8+ T lymphocytes within both lamina propria and epithelium of the small intestine. G alpha (i) signalling events GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0050900;leukocyte migration;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005179;hormone activity;TAS|GO:0008009;chemokine activity;IDA|GO:0031735;CCR10 chemokine receptor binding;IDA|GO:0042379;chemokine receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCL25 https://www.uniprot.org/uniprot/O15444 https://www.ncbi.nlm.nih.gov/omim/?term=602565 http://www.informatics.jax.org/searchtool/Search.do?query=CCL25&submit=Quick%0D%6502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL25 rs2303166 0.167931 0 0 1 0 0 intronic intronic intronic CCL25 CCL25 ENSG00000131142 Na Na Na Na Na Na Het;G>A 695;16|25 Het;G>A 383;18|16 Hom;G>A 844;0|24 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8137902 8137902 C T snp intronic FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs7254691 0.575479 0.6431 0.5526 1 0 0 intronic intronic intronic FBN3 FBN3 ENSG00000142449 Na Na Na Na Na Na Het;C>T 344;15|10 Het;C>T 227;12|7 Hom;C>T 557;0|13 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8137908 8137908 C T snp intronic FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs28657412 0.575479 0.6297 0.5534 1 0 0 intronic intronic intronic FBN3 FBN3 ENSG00000142449 Na Na Na Na Na Na Het;C>T 341;17|10 Het;C>T 257;13|8 Hom;C>T 582;0|14 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8138054 8138054 C A snp nonsynonymous SNV G7830T E2610D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs7257948 0.579473 0.6438 0.5465 0.15 2 13 exonic exonic exonic FBN3 FBN3 ENSG00000142449 nonsynonymous SNV nonsynonymous SNV unknown FBN3:NM_032447:exon61:c.G7830T:p.E2610D, FBN3:uc002mjf.3:exon61:c.G7830T:p.E2610D,FBN3:uc002mje.3:exon12:c.G1218T:p.E406D, UNKNOWN Het;C>A 1159;64|60 Het;C>A 784;55|40 Hom;C>A 2900;0|110 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8145921 8145921 C T snp synonymous SNV G7419A P2473P hydrophobic,neutral hydrophobic,neutral FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs2303168 0.563299 0.6256 0.5378 1 0 0 exonic exonic exonic FBN3 FBN3 ENSG00000142449 synonymous SNV synonymous SNV unknown FBN3:NM_032447:exon58:c.G7419A:p.P2473P, FBN3:uc002mjf.3:exon58:c.G7419A:p.P2473P,FBN3:uc002mje.3:exon10:c.G936A:p.P312P, UNKNOWN Het;C>T 1730;76|78 Het;C>T 1135;76|56 Hom;C>T 3719;0|142 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8146114 8146114 T C snp intronic FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs2303169 0.563099 0 0 1 0 0 intronic intronic intronic FBN3 FBN3 ENSG00000142449 Na Na Na Na Na Na Het;T>C 612;15|20 Het;T>C 226;16|8 Hom;T>C 941;0|28 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8146510 8146510 G A snp intronic FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs35618038 0.563299 0 0 1 0 0 intronic intronic intronic FBN3 FBN3 ENSG00000142449 Na Na Na Na Na Na Het;G>A 169;2|6 Het;G>A 76;1|3 Hom;G>A 358;0|10 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8148042 8148042 G C snp intronic FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs17160147 0.335863 0 0 1 0 0 intronic intronic intronic FBN3 FBN3 ENSG00000142449 Na Na Na Na Na Na Het;G>C 492;18|17 Het;G>C 426;31|16 Hom;G>C 1421;0|46 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8148314 8148314 A C snp intronic FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 rs17160149 0.320687 0 0 1 0 0 intronic intronic intronic FBN3 FBN3 ENSG00000142449 Na Na Na Na Na Na Het;A>C 1098;37|44 Het;A>C 1071;39|45 Hom;A>C 2055;0|69 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8389774 8389774 G A snp intronic KANK3 Kank3 ENSG00000186994 KN motif and ankyrin repeat domains 3 chr19:8387468-8408146 http://www.genecards.org/index.php?path=/Search/keyword/KANK3 https://www.ncbi.nlm.nih.gov/omim/?term=614611 http://www.informatics.jax.org/searchtool/Search.do?query=KANK3&submit=Quick%0D%15754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK3 Na 0 0 0 1 0 0 intronic intronic intronic KANK3 KANK3 ENSG00000186994 Na Na Na Na Na Na Het;G>A 1259;57|52 Het;G>A 1152;40|43 Hom;G>A 2670;2|93 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8503345 8503345 G C snp nonsynonymous SNV G656C R219P polar,hydrophilic,charged(+) hydrophobic,neutral MARCH2 March2 ENSG00000099785 membrane associated ring-CH-type finger 2 chr19:8478154-8503901 MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010] GO:0006897;endocytosis;IEA|GO:0016567;protein ubiquitination;IDA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MARCH2 https://www.uniprot.org/uniprot/Q9P0N8 https://www.ncbi.nlm.nih.gov/omim/?term=613332 http://www.informatics.jax.org/searchtool/Search.do?query=MARCH2&submit=Quick%0D%2329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCH2 rs34099346 0.0934505 0.1049 0.1551 0.15 2 13 exonic exonic exonic MARCH2 MARCH2 ENSG00000099785 nonsynonymous SNV nonsynonymous SNV unknown MARCH2:NM_001005416:exon4:c.G446C:p.R149P,MARCH2:NM_001005415:exon5:c.G656C:p.R219P,MARCH2:NM_016496:exon6:c.G656C:p.R219P, MARCH2:uc002mjv.3:exon6:c.G656C:p.R219P,MARCH2:uc002mjx.3:exon4:c.G446C:p.R149P,MARCH2:uc002mjw.3:exon5:c.G656C:p.R219P, UNKNOWN Het;G>C 2124;102|94 Het;G>C 1537;102|77 Hom;G>C 4815;0|182 N N - 19 872255 872255 G A snp intronic MED16 Med16 ENSG00000282092 mediator complex subunit 16 chr19:867962-893218 http://www.genecards.org/index.php?path=/Search/keyword/MED16 https://www.ncbi.nlm.nih.gov/omim/?term=604062 http://www.informatics.jax.org/searchtool/Search.do?query=MED16&submit=Quick%0D%22400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED16 rs891206 0.441693 0 0 1 0 0 intronic intronic intronic MED16 MED16 ENSG00000175221 Na Na Na Na Na Na Het;G>A 172;4|6 Ref Hom;G>A 126;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8932524 8932524 T C snp UTR5 -635A>G ZNF558 Zfp558 ENSG00000167785 zinc finger protein 558 chr19:8920380-8943004 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF558 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF558&submit=Quick%0D%12118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF558 rs12978839 0.148363 0 0 1 0 0 UTR5 intronic ncRNA_intronic ZNF558(NM_001304350:c.-635A>G) ZNF558 ENSG00000269300 Na Na Na Na Na Na Het;T>C 117;3|4 Ref Hom;T>C 209;0|6 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 8943242 8943242 A C snp upstream ZNF558 Zfp558 ENSG00000167785 zinc finger protein 558 chr19:8920380-8943004 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF558 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF558&submit=Quick%0D%12118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF558 rs11666419 0.165535 0 0 1 0 0 upstream upstream intronic ZNF558 ZNF558 ENSG00000170948 Na Na Na Na Na Na Het;A>C 88;2|5 Ref Hom;A>C 195;0|9 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9005674 9005674 G A snp synonymous SNV C39732T D13244D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs4804091 0.220447 0.2649 0.2636 1 0 0 exonic exonic exonic MUC16 MUC16 ENSG00000181143 synonymous SNV synonymous SNV unknown MUC16:NM_024690:exon46:c.C39732T:p.D13244D, MUC16:uc002mkp.3:exon46:c.C39732T:p.D13244D,MUC16:uc010dwj.3:exon3:c.C183T:p.D61D, UNKNOWN Het;G>A 2241;95|100 Het;G>A 1968;107|97 Hom;G>A 5136;0|195 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9020154 9020154 A G snp synonymous SNV T37341C S12447S polar,hydrophilic,neutral polar,hydrophilic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs11882881 0.446486 0.3819 0.4251 1 0 0 exonic exonic exonic MUC16 MUC16 ENSG00000181143 synonymous SNV synonymous SNV unknown MUC16:NM_024690:exon21:c.T37341C:p.S12447S, MUC16:uc002mkp.3:exon21:c.T37341C:p.S12447S, UNKNOWN Het;A>G 125;7|8 Het;A>G 88;1|4 Hom;A>G 330;0|12 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9068374 9068374 A G snp nonsynonymous SNV T19072C S6358P polar,hydrophilic,neutral hydrophobic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs61732552 0.0181709 0.0224 0.0286 0.08 1 12 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon3:c.T19072C:p.S6358P, MUC16:uc002mkp.3:exon3:c.T19072C:p.S6358P, UNKNOWN Het;A>G 2278;73|92 Het;A>G 2127;100|92 Hom;A>G 5284;0|183 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9071562 9071562 C T snp nonsynonymous SNV G15884A G5295E aliphatic,neutral polar,hydrophilic,charged(-) MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs116866749 0.0169728 0.0221 0.0272 0.08 1 12 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon3:c.G15884A:p.G5295E, MUC16:uc002mkp.3:exon3:c.G15884A:p.G5295E, UNKNOWN Het;C>T 1585;83|73 Het;C>T 1547;98|68 Hom;C>T 4116;0|149 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9083143 9083143 G A snp nonsynonymous SNV C8672T T2891I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs7245949 0.226438 0.3097 0.2933 0.33 4 12 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon1:c.C8672T:p.T2891I, MUC16:uc002mkp.3:exon1:c.C8672T:p.T2891I, UNKNOWN Het;G>A 1471;77|66 Het;G>A 1648;79|75 Hom;G>A 3441;0|121 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9083174 9083174 G A snp nonsynonymous SNV C8641T P2881S hydrophobic,neutral polar,hydrophilic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs7245960 0.226637 0.3087 0.2948 0.17 2 12 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon1:c.C8641T:p.P2881S, MUC16:uc002mkp.3:exon1:c.C8641T:p.P2881S, UNKNOWN Het;G>A 1644;78|69 Het;G>A 1549;80|63 Hom;G>A 3269;0|112 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9084183 9084183 G A snp synonymous SNV C7632T P2544P hydrophobic,neutral hydrophobic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs1609460 0.416334 0.4491 0.4874 1 0 0 exonic exonic exonic MUC16 MUC16 ENSG00000181143 synonymous SNV synonymous SNV unknown MUC16:NM_024690:exon1:c.C7632T:p.P2544P, MUC16:uc002mkp.3:exon1:c.C7632T:p.P2544P, UNKNOWN Het;G>A 1287;68|55 Het;G>A 1267;60|54 Hom;G>A 3754;0|132 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9084216 9084216 T C snp synonymous SNV A7599G A2533A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs1609459 0.226438 0.3046 0.2918 1 0 0 exonic exonic exonic MUC16 MUC16 ENSG00000181143 synonymous SNV synonymous SNV unknown MUC16:NM_024690:exon1:c.A7599G:p.A2533A, MUC16:uc002mkp.3:exon1:c.A7599G:p.A2533A, UNKNOWN Het;T>C 1401;58|58 Het;T>C 1137;58|52 Hom;T>C 3574;0|129 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9084299 9084299 T C snp nonsynonymous SNV A7516G T2506A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs1609458 0.416733 0.4530 0.4880 0.30 3 10 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon1:c.A7516G:p.T2506A, MUC16:uc002mkp.3:exon1:c.A7516G:p.T2506A, UNKNOWN Het;T>C 1488;50|62 Het;T>C 1485;40|56 Hom;T>C 3134;0|106 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9084481 9084481 C T snp nonsynonymous SNV G7334A G2445D aliphatic,neutral polar,hydrophilic,charged(-) MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs28641623 0.0225639 0.0233 0.0069 0.27 3 11 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon1:c.G7334A:p.G2445D, MUC16:uc002mkp.3:exon1:c.G7334A:p.G2445D, UNKNOWN Het;C>T 1256;43|52 Het;C>T 1638;34|65 Hom;C>T 3168;1|112 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9086123 9086123 A C snp nonsynonymous SNV T5692G Y1898D aromatic,polar,hydrophobic polar,hydrophilic,charged(-) MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs10402812 0.226438 0.3095 0.2920 0.30 3 10 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon1:c.T5692G:p.Y1898D, MUC16:uc002mkp.3:exon1:c.T5692G:p.Y1898D, UNKNOWN Het;A>C 1325;69|55 Het;A>C 1219;81|57 Hom;A>C 3723;0|130 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9088017 9088017 T G snp nonsynonymous SNV A3798C K1266N polar,hydrophilic,charged(+) polar,hydrophilic,neutral MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs1596797 0.796326 0.7692 0.7434 0.08 1 12 exonic exonic exonic MUC16 MUC16 ENSG00000181143 nonsynonymous SNV nonsynonymous SNV unknown MUC16:NM_024690:exon1:c.A3798C:p.K1266N, MUC16:uc002mkp.3:exon1:c.A3798C:p.K1266N, UNKNOWN Het;T>G 2079;96|87 Het;T>G 2083;77|87 Hom;T>G 4406;0|153 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9090531 9090531 T C snp synonymous SNV A1284G E428E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MUC16 Muc16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 rs12976721 0.216054 0.3050 0.284 1 0 0 exonic exonic exonic MUC16 MUC16 ENSG00000181143 synonymous SNV synonymous SNV unknown MUC16:NM_024690:exon1:c.A1284G:p.E428E, MUC16:uc002mkp.3:exon1:c.A1284G:p.E428E, UNKNOWN Het;T>C 2272;70|90 Het;T>C 1997;95|84 Hom;T>C 4036;1|141 N N - 19 917526 917526 A G snp synonymous SNV A24G G8G aliphatic,neutral aliphatic,neutral KISS1R Kiss1r ENSG00000116014 KISS1 receptor chr19:917287-921015 The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008] Puberty, Precocious; Bone Mineral Density; hypogonaotropic hypogonadism; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; age at menarche; hypogonadotropic hypogonadism Homozygous null mutations result in male and female infertility associated with abnormal sexual maturation and hypogonadotropic hypogonadism. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IBA|GO:0007218;neuropeptide signaling pathway;IEA GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;IDA|GO:0008528;G-protein coupled peptide receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KISS1R https://www.uniprot.org/uniprot/Q969F8 https://hpo.jax.org/app/browse/search?q=KISS1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604161 http://www.informatics.jax.org/searchtool/Search.do?query=KISS1R&submit=Quick%0D%4690ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KISS1R rs10407968 0.186302 0.1212 0.2591 1 0 0 exonic exonic exonic KISS1R KISS1R ENSG00000116014 synonymous SNV synonymous SNV unknown KISS1R:NM_032551:exon1:c.A24G:p.G8G, KISS1R:uc002lqk.4:exon1:c.A24G:p.G8G, UNKNOWN Het;A>G 443;28|17 Ref Hom;A>G 1076;0|34 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9237746 9237750 TTTTC T indel upstream OR7G3 Olfr834 ENSG00000170920 olfactory receptor family 7 subfamily G member 3 chr19:9236688-9237626 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7G3 http://www.informatics.jax.org/searchtool/Search.do?query=OR7G3&submit=Quick%0D%12807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G3 rs751738977 0 0 0 1 0 0 upstream upstream upstream OR7G3 OR7G3 ENSG00000170920 Na Na Na Na Na Na Het;-TTTC 192;5|6 Het;-TTTC 67;1|3 Hom;-TTTC 138;0|4 N N - 19 929481 929481 C CGTG indel UTR5 -48C>CGTG ARID3A Arid3a ENSG00000116017 AT-rich interaction domain 3A chr19:925781-975939 This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] Optic Disk; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E13.5 due to impaired erythropoiesis. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARID3A https://www.uniprot.org/uniprot/Q99856 https://www.ncbi.nlm.nih.gov/omim/?term=603265 http://www.informatics.jax.org/searchtool/Search.do?query=ARID3A&submit=Quick%0D%4692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARID3A rs538787230 0.00499201 0.0173 0.0131 1 0 0 UTR5 UTR5 UTR5 ARID3A(NM_005224:c.-48C>CGTG) ARID3A(uc002lql.3:c.-48C>CGTG) ENSG00000116017(ENST00000263620:c.-48C>CGTG) Na Na Na Na Na Na Het;+GTG 107;5|3 Ref Hom;+GTG 171;0|4 19_20.212_38.212 Chr19:6565245-15124834 0.429 19 9582092 9582096 TAAAA T indel intronic ZNF560 Zfp560 ENSG00000198028 zinc finger protein 560 chr19:9577183-9609283 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF560 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF560&submit=Quick%0D%16790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF560 rs3068759 0.363219 0 0.4009 1 0 0 intronic intronic intronic ZNF560 ZNF560 ENSG00000198028 Na Na Na Na Na Na Het;-AAAA 998;10|51 Het;-AAAA 1218;8|58 Hom;-AAAA 1296;3|60 N N - 1 100316765 100316765 C T snp intronic AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs663848 0.76258 0 0 1 0 0 intronic intronic intronic AGL AGL ENSG00000162688 Na Na Na Na Na Na Het;C>T 461;11|16 Het;C>T 325;4|11 Hom;C>T 653;0|21 N N - 1 100329889 100329889 G C snp intronic AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs535461 0.739617 0 0 1 0 0 intronic intronic intronic AGL AGL ENSG00000162688 Na Na Na Na Na Na Het;G>C 779;39|33 Het;G>C 798;20|30 Hom;G>C 1895;0|61 N N - 1 100330237 100330237 A G snp intronic AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs538389 0.76258 0 0 1 0 0 intronic intronic intronic AGL AGL ENSG00000162688 Na Na Na Na Na Na Het;A>G 312;6|10 Het;A>G 179;4|6 Hom;A>G 367;1|11 N N - 1 100336361 100336361 C T snp synonymous SNV C843T L281L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs2230306 0.76258 0.7671 0.7214 1 0 0 exonic exonic exonic AGL AGL ENSG00000162688 synonymous SNV synonymous SNV synonymous SNV AGL:NM_000645:exon5:c.C843T:p.L281L,AGL:NM_000646:exon7:c.C846T:p.L282L,AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L, AGL:uc001dsj.1:exon7:c.C894T:p.L298L,AGL:uc001dsk.1:exon7:c.C894T:p.L298L,AGL:uc001dsl.1:exon7:c.C894T:p.L298L,AGL:uc001dsi.1:exon7:c.C894T:p.L298L,AGL:uc001dsm.1:exon7:c.C846T:p.L282L,AGL:uc001dsn.1:exon5:c.C843T:p.L281L, ENSG00000162688:ENST00000361522:exon5:c.C843T:p.L281L,ENSG00000162688:ENST00000294724:exon7:c.C894T:p.L298L,ENSG00000162688:ENST00000370161:exon6:c.C846T:p.L282L,ENSG00000162688:ENST00000361915:exon7:c.C894T:p.L298L,ENSG00000162688:ENST00000361302:exon7:c.C846T:p.L282L,ENSG00000162688:ENST00000370163:exon7:c.C894T:p.L298L,ENSG00000162688:ENST00000370165:exon7:c.C894T:p.L298L, Het;C>T 486;45|27 Het;C>T 884;51|45 Hom;C>T 2550;0|98 N N - 1 100340225 100340225 G A snp intronic AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs634880 0.743411 0.7483 0.7314 1 0 0 intronic intronic intronic AGL AGL ENSG00000162688 Na Na Na Na Na Na Het;G>A 1898;118|84 Het;G>A 1612;72|72 Hom;G>A 4130;0|146 N N - 1 100353675 100353675 G A snp intronic AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs555929 0.68111 0.6549 0.6898 1 0 0 intronic intronic intronic AGL AGL ENSG00000162688 Na Na Na Na Na Na Het;G>A 369;17|17 Ref Hom;G>A 1861;0|63 N N - 1 100358200 100358200 G A snp intronic AGL Agl ENSG00000162688 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase chr1:100315640-100389579 This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Asthma; Macular Degeneration; glycogen storage disease type IIIA; glycogen storage disease type III; glycogen storage disease; Tobacco Use Disorder; longevity Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. Glycogen breakdown (glycogenolysis) GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009725;response to hormone;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0034774;secretory granule lumen;TAS|GO:0043033;isoamylase complex;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0004133;glycogen debranching enzyme activity;TAS|GO:0004134;4-alpha-glucanotransferase activity;EXP|GO:0004135;amylo-alpha-1,6-glucosidase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA|GO:0031593;polyubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGL https://hpo.jax.org/app/browse/search?q=AGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610860 http://www.informatics.jax.org/searchtool/Search.do?query=AGL&submit=Quick%0D%10769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGL rs594249 0.68151 0.6550 0.6912 1 0 0 intronic intronic intronic AGL AGL ENSG00000162688 Na Na Na Na Na Na Het;G>A 788;14|29 Ref Hom;G>A 1572;0|55 N N - 1 100733207 100733207 G GT indel intronic RTCA Rtca ENSG00000137996 RNA 3'-terminal phosphate cyclase chr1:100731763-100758325 This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Mice homozygous for a hypomorphic allele exhibit incomplete prenatal lethality and enhanced retinal ganglion cell axon regeneration after optic nerve crush injury. GO:0006396;RNA processing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;TAS|GO:0003824;catalytic activity;IEA|GO:0003963;RNA-3'-phosphate cyclase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RTCA https://www.uniprot.org/uniprot/O00442 https://www.ncbi.nlm.nih.gov/omim/?term=611286 http://www.informatics.jax.org/searchtool/Search.do?query=RTCA&submit=Quick%0D%7647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTCA rs397742472 0.741014 0 0 1 0 0 intronic intronic intronic RTCA RTCA ENSG00000137996 Na Na Na Na Na Na Het;+T 805;9|45 Het;+T 892;9|51 Hom;+T 1387;5|69 N N - 1 101253828 101253828 T C snp intergenic VCAM1 Vcam1 ENSG00000162692 vascular cell adhesion molecule 1 chr1:101185298-101204601 This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010] pulse wave velocity; stroke; sickle cell anemia; lung cancer ; Thrombosis; Inflammation|Venous Thromboembolism; Multiple Sclerosis; Meningeal Neoplasms|meningioma; Cardiovascular Diseases|; myocardial infarct; respiratory syncytial virus bronchiolitis; Brain Ischemia|Stroke; respiratory syncytial virus; multiple sclerosis; Hypercholesterolemia|LDLC levels; Lymphedema; Lymphoma, Large B-Cell, Diffuse; Migraine Disorders; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; benzene haematotoxicity; HIV; Heart Diseases|Inflammation|Myocardial Infarction; cerebrovascular disease; sickle cell anemia; Biliary Tract Neoplasms|Inflammation; Atherosclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Brain Ischemia|Inflammation|Stroke; bladder cancer; diabetes, type 2; Leukemia, Lymphocytic, Chronic, B-Cell; Chronic renal failure|Kidney Failure, Chronic; lung cancer; stroke; Type 2 Diabetes| edema | rosiglitazone; Multiple Myeloma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; atherosclerosis; Alzheimer's disease ; chronic obstructive pulmonary disease; Lymphoma, Non-Hodgkin; Coronary Artery Disease|Inflammation; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; benzene toxicity; vascular disease; Arthritis, Rheumatoid; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Type 2 diabetes; Erythema Nodosum|Sarcoidosis Most homozygous null mutants die by embryonic day 12.5 due to defective placenta and failure of chorion/allantois fusion, and heart developmental anomalies. Survivors are generally normal, but have high numbers of circulating blood mononuclear leukocytes. Interferon gamma signaling GO:0001666;response to hypoxia;IEA|GO:0002526;acute inflammatory response;IEA|GO:0002544;chronic inflammatory response;IEA|GO:0007155;cell adhesion;IDA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007160;cell-matrix adhesion;IDA|GO:0007568;aging;IEA|GO:0007584;response to nutrient;IEA|GO:0009308;amine metabolic process;IDA|GO:0010043;response to zinc ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0016032;viral process;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022614;membrane to membrane docking;IEP|GO:0030183;B cell differentiation;IC|GO:0030198;extracellular matrix organization;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0035094;response to nicotine;IEA|GO:0035584;calcium-mediated signaling using intracellular calcium source;IGI|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IEA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045471;response to ethanol;IEA|GO:0050776;regulation of immune response;TAS|GO:0050901;leukocyte tethering or rolling;IEP|GO:0055114;oxidation-reduction process;IEA|GO:0060326;cell chemotaxis;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0071356;cellular response to tumor necrosis factor;IEA GO:0002102;podosome;IDA|GO:0005615;extracellular space;IDA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030175;filopodium;IDA|GO:0042383;sarcolemma;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA GO:0005178;integrin binding;IDA|GO:0008131;primary amine oxidase activity;IDA|GO:0050839;cell adhesion molecule binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/VCAM1 https://www.ncbi.nlm.nih.gov/omim/?term=192225 http://www.informatics.jax.org/searchtool/Search.do?query=VCAM1&submit=Quick%0D%10770ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VCAM1 rs3934246 0.510583 0 0 1 0 0 intergenic intergenic intergenic VCAM1(dist=49227),EXTL2(dist=84100) VCAM1(dist=49227),EXTL2(dist=84100) ENSG00000162692(dist=49227),ENSG00000162694(dist=84115) Na Na Na Na Na Na Het;T>C 162;8|9 Ref Hom;T>C 101;0|4 N N - 1 101789562 101789562 C T snp ncRNA_intronic LINC01307 rs6577237 0.836062 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01307 Mir_584(dist=42989),RNU6-31P(dist=16863) ENSG00000231671 Na Na Na Na Na Na Het;C>T 107;3|5 Ref Hom;C>T 281;0|11 N N - 1 103262903 103262903 A G snp ncRNA_intronic AC099567.1 rs672809 0.858227 0 0 1 0 0 intergenic intergenic ncRNA_intronic OLFM3(dist=800113),COL11A1(dist=79120) OLFM3(dist=800113),COL11A1(dist=79120) ENSG00000230864 Na Na Na Na Na Na Het;A>G 193;8|8 Het;A>G 391;8|13 Hom;A>G 1223;0|43 N N - 1 103354138 103354138 A G snp nonsynonymous SNV T4486C S1496P polar,hydrophilic,neutral hydrophobic,neutral COL11A1 Col11a1 ENSG00000060718 collagen type XI alpha 1 chain chr1:103342023-103574052 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. Collagen chain trimerization GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL11A1 https://www.uniprot.org/uniprot/P12107 https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120280 http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1 rs1676486 0.782947 0.8070 0.7942 0.31 4 13 exonic exonic exonic COL11A1 COL11A1 ENSG00000060718 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P, COL11A1:uc001dun.3:exon61:c.T4486C:p.S1496P,COL11A1:uc001dul.3:exon62:c.T4603C:p.S1535P,COL11A1:uc001dum.3:exon62:c.T4639C:p.S1547P,COL11A1:uc009weh.3:exon60:c.T4255C:p.S1419P,COL11A1:uc001duk.3:exon59:c.T2191C:p.S731P, ENSG00000060718:ENST00000370096:exon62:c.T4603C:p.S1535P,ENSG00000060718:ENST00000512756:exon60:c.T4255C:p.S1419P,ENSG00000060718:ENST00000353414:exon61:c.T4486C:p.S1496P,ENSG00000060718:ENST00000358392:exon62:c.T4639C:p.S1547P, Het;A>G 862;36|34 Het;A>G 436;42|24 Hom;A>G 2426;0|89 N N - 1 103354428 103354428 A G snp synonymous SNV T4395C G1465G aliphatic,neutral aliphatic,neutral COL11A1 Col11a1 ENSG00000060718 collagen type XI alpha 1 chain chr1:103342023-103574052 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. Collagen chain trimerization GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL11A1 https://www.uniprot.org/uniprot/P12107 https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120280 http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1 rs1763347 0.622604 0.6229 0.7239 1 0 0 exonic exonic exonic COL11A1 COL11A1 ENSG00000060718 synonymous SNV synonymous SNV synonymous SNV COL11A1:NM_001190709:exon59:c.T4395C:p.G1465G,COL11A1:NM_080630:exon58:c.T4164C:p.G1388G,COL11A1:NM_080629:exon60:c.T4548C:p.G1516G,COL11A1:NM_001854:exon60:c.T4512C:p.G1504G, COL11A1:uc001dun.3:exon59:c.T4395C:p.G1465G,COL11A1:uc001dul.3:exon60:c.T4512C:p.G1504G,COL11A1:uc001dum.3:exon60:c.T4548C:p.G1516G,COL11A1:uc009weh.3:exon58:c.T4164C:p.G1388G,COL11A1:uc001duk.3:exon57:c.T2100C:p.G700G, ENSG00000060718:ENST00000370096:exon60:c.T4512C:p.G1504G,ENSG00000060718:ENST00000512756:exon58:c.T4164C:p.G1388G,ENSG00000060718:ENST00000353414:exon59:c.T4395C:p.G1465G,ENSG00000060718:ENST00000358392:exon60:c.T4548C:p.G1516G, Het;A>G 701;46|31 Het;A>G 1019;39|42 Hom;A>G 3633;0|132 N N - 1 103356168 103356168 A C snp intronic COL11A1 Col11a1 ENSG00000060718 collagen type XI alpha 1 chain chr1:103342023-103574052 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. Collagen chain trimerization GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL11A1 https://www.uniprot.org/uniprot/P12107 https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120280 http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1 rs1085 0.626797 0 0 1 0 0 intronic intronic intronic COL11A1 COL11A1 ENSG00000060718 Na Na Na Na Na Na Het;A>C 557;26|22 Het;A>C 436;31|17 Hom;A>C 2733;0|86 N N - 1 103400491 103400491 G A snp intronic COL11A1 Col11a1 ENSG00000060718 collagen type XI alpha 1 chain chr1:103342023-103574052 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. Collagen chain trimerization GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL11A1 https://www.uniprot.org/uniprot/P12107 https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120280 http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1 rs11164641 0.777556 0 0 1 0 0 intronic intronic intronic COL11A1 COL11A1 ENSG00000060718 Na Na Na Na Na Na Het;G>A 137;1|4 Het;G>A 34;3|1 Hom;G>A 274;0|6 N N - 1 103400492 103400492 A T snp intronic COL11A1 Col11a1 ENSG00000060718 collagen type XI alpha 1 chain chr1:103342023-103574052 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. Collagen chain trimerization GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL11A1 https://www.uniprot.org/uniprot/P12107 https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120280 http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1 rs11164642 0.777556 0 0 1 0 0 intronic intronic intronic COL11A1 COL11A1 ENSG00000060718 Na Na Na Na Na Na Het;A>T 137;1|4 Het;A>T 34;3|2 Hom;A>T 274;0|7 N N - 1 103496805 103496806 GA G indel intronic COL11A1 Col11a1 ENSG00000060718 collagen type XI alpha 1 chain chr1:103342023-103574052 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] colorectal cancer; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Hemoglobin A, Glycosylated; osteoarthritis; protein quantitative trait loci; Intervertebral Disk Displacement; Cleft Lip|Cleft Palate Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. Collagen chain trimerization GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0002063;chondrocyte development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030198;extracellular matrix organization;NAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0035989;tendon development;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IMP|GO:0051216;cartilage development;IEA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005592;collagen type XI trimer;IDA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030674;protein binding, bridging;NAS|GO:0046872;metal ion binding;IEA|GO:0050840;extracellular matrix binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL11A1 https://www.uniprot.org/uniprot/P12107 https://hpo.jax.org/app/browse/search?q=COL11A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120280 http://www.informatics.jax.org/searchtool/Search.do?query=COL11A1&submit=Quick%0D%1067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL11A1 rs36076089 0.477436 0 0.6075 1 0 0 intronic intronic intronic COL11A1 COL11A1 ENSG00000060718 Na Na Na Na Na Na Het;-A 1002;11|55 Het;-A 1194;11|61 Hom;-A 1226;7|63 N N - 1 106161733 106161733 T C snp upstream BC043293 rs12030280 0.709065 0 0 1 0 0 upstream upstream upstream LOC101928476 BC043293 ENSG00000230768 Na Na Na Na Na Na Het;T>C 168;2|6 Het;T>C 219;4|8 Hom;T>C 272;0|9 N N - 1 108292260 108292260 A G snp intronic VAV3 Vav3 ENSG00000134215 vav guanine nucleotide exchange factor 3 chr1:108113782-108507766 This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Sodium; Hypothyroidism; Exercise Test; Waist-Hip Ratio; Cholesterol, HDL; coronary spastic angina; platelet signaling; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Glaucoma, Angle-Closure|Glaucoma, Open-Angle Homozygous mutation of this gene results in tachycardia, systemic arterial hypertension, cardiovascular remodeling, hyperactivity of sympathetic neurons and thus high catecholamine levels, and increased levels of kidney-related hormones. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0006906;vesicle fusion;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0008361;regulation of cell size;IGI|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042493;response to drug;IMP|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050853;B cell receptor signaling pathway;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV3 https://www.uniprot.org/uniprot/Q9UKW4 https://www.ncbi.nlm.nih.gov/omim/?term=605541 http://www.informatics.jax.org/searchtool/Search.do?query=VAV3&submit=Quick%0D%6931ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV3 rs6672483 0.77476 0.6313 0.7028 1 0 0 intronic intronic intronic VAV3 VAV3 ENSG00000134215 Na Na Na Na Na Na Het;A>G 426;24|17 Het;A>G 624;28|28 Hom;A>G 1808;0|57 N N - 1 108765278 108765278 A G snp downstream NBPF4 ENSG00000196427 NBPF member 4 chr1:108765963-108786689 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/NBPF4 https://www.ncbi.nlm.nih.gov/omim/?term=613994 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF4&submit=Quick%0D%16360ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF4 rs12129033 0.463059 0 0 1 0 0 downstream downstream downstream NBPF4 NBPF4 ENSG00000196427 Na Na Na Na Na Na Het;A>G 875;27|37 Het;A>G 603;15|27 Hom;A>G 1578;0|60 N N - 1 108766133 108766133 A G snp UTR3 *194T>C NBPF4 ENSG00000196427 NBPF member 4 chr1:108765963-108786689 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/NBPF4 https://www.ncbi.nlm.nih.gov/omim/?term=613994 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF4&submit=Quick%0D%16360ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF4 rs3870737 0.444089 0 0 1 0 0 UTR3 UTR3 UTR3 NBPF4(NM_001143989:c.*194T>C) NBPF4(uc009weo.2:c.*194T>C) ENSG00000196427(ENST00000415641:c.*194T>C) Na Na Na Na Na Na Het;A>G 1970;82|84 Het;A>G 1419;81|65 Hom;A>G 3339;11|129 N N - 1 108766424 108766424 A G snp intronic NBPF4 ENSG00000196427 NBPF member 4 chr1:108765963-108786689 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/NBPF4 https://www.ncbi.nlm.nih.gov/omim/?term=613994 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF4&submit=Quick%0D%16360ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF4 rs3879436 0.404553 0 0 1 0 0 intronic intronic intronic NBPF4 NBPF4 ENSG00000196427 Na Na Na Na Na Na Het;A>G 827;24|33 Het;A>G 304;33|16 Hom;A>G 1006;0|36 N N - 1 109268573 109268573 T C snp nonsynonymous SNV T359C V120A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FNDC7 Fndc7 ENSG00000143107 fibronectin type III domain containing 7 chr1:109255279-109285365 Hip GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/FNDC7 https://www.uniprot.org/uniprot/Q5VTL7 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC7&submit=Quick%0D%8363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC7 rs4494160 0.592851 0.7391 0.6521 0.23 3 13 exonic exonic exonic FNDC7 FNDC7 ENSG00000143107 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FNDC7:NM_001144937:exon6:c.T1058C:p.V353A, FNDC7:uc010ova.2:exon2:c.T359C:p.V120A,FNDC7:uc001dvx.3:exon6:c.T1058C:p.V353A, ENSG00000143107:ENST00000370017:exon6:c.T1058C:p.V353A,ENSG00000143107:ENST00000271311:exon5:c.T1061C:p.V354A, Het;T>C 1319;56|56 Ref Hom;T>C 3283;0|114 N N - 1 109395105 109395105 C T snp nonsynonymous SNV G182A S61N polar,hydrophilic,neutral polar,hydrophilic,neutral AKNAD1 Aknad1 ENSG00000162641 AKNA domain containing 1 chr1:109358520-109506106 This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Fibrinogen; Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/AKNAD1 http://www.informatics.jax.org/searchtool/Search.do?query=AKNAD1&submit=Quick%0D%10758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNAD1 rs1277207 0.867013 0.8332 0.8324 0.08 1 13 exonic exonic exonic AKNAD1 AKNAD1 ENSG00000162641 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV AKNAD1:NM_152763:exon2:c.G182A:p.S61N, AKNAD1:uc001dwa.4:exon2:c.G182A:p.S61N, ENSG00000162641:ENST00000369994:exon1:c.G182A:p.S61N,ENSG00000162641:ENST00000461774:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000370001:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000472781:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000369995:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000474186:exon3:c.G182A:p.S61N, Het;C>T 2008;95|89 Het;C>T 2385;102|103 Hom;C>T 4203;2|156 N N - 1 109584880 109584880 T G snp upstream WDR47 Wdr47 ENSG00000085433 WD repeat domain 47 chr1:109512836-109584850 GO:0007275;multicellular organism development;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR47 https://www.uniprot.org/uniprot/O94967 https://www.ncbi.nlm.nih.gov/omim/?term=615734 http://www.informatics.jax.org/searchtool/Search.do?query=WDR47&submit=Quick%0D%1887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR47 rs170896 0.894169 0 0 1 0 0 upstream upstream upstream WDR47 WDR47 ENSG00000085433 Na Na Na Na Na Na Het;T>G 80;1|4 Het;T>G 83;2|3 Hom;T>G 80;0|3 N N - 1 109732080 109732080 C T snp intronic KIAA1324 5330417C22Rik ENSG00000116299 KIAA1324 chr1:109656301-109749401 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324 https://www.uniprot.org/uniprot/Q6UXG2 https://www.ncbi.nlm.nih.gov/omim/?term=611298 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324 rs603285 0.705072 0 0 1 0 0 intronic intronic intronic KIAA1324 KIAA1324 ENSG00000116299 Na Na Na Na Na Na Het;C>T 304;6|10 Het;C>T 32;6|3 Hom;C>T 240;0|7 N N - 1 109734157 109734157 T C snp intronic KIAA1324 5330417C22Rik ENSG00000116299 KIAA1324 chr1:109656301-109749401 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324 https://www.uniprot.org/uniprot/Q6UXG2 https://www.ncbi.nlm.nih.gov/omim/?term=611298 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324 rs606066 0.764377 0 0 1 0 0 intronic intronic intronic KIAA1324 KIAA1324 ENSG00000116299 Na Na Na Na Na Na Het;T>C 583;42|28 Het;T>C 714;28|29 Hom;T>C 1314;1|45 N N - 1 109734225 109734225 G T snp intronic KIAA1324 5330417C22Rik ENSG00000116299 KIAA1324 chr1:109656301-109749401 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324 https://www.uniprot.org/uniprot/Q6UXG2 https://www.ncbi.nlm.nih.gov/omim/?term=611298 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324 rs643785 0.73123 0 0 1 0 0 intronic intronic intronic KIAA1324 KIAA1324 ENSG00000116299 Na Na Na Na Na Na Het;G>T 536;21|19 Het;G>T 292;9|12 Hom;G>T 416;0|13 N N - 1 109735298 109735298 T C snp synonymous SNV T1488C G496G aliphatic,neutral aliphatic,neutral KIAA1324 5330417C22Rik ENSG00000116299 KIAA1324 chr1:109656301-109749401 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324 https://www.uniprot.org/uniprot/Q6UXG2 https://www.ncbi.nlm.nih.gov/omim/?term=611298 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324 rs658779 0.741613 0.6365 0.7832 1 0 0 exonic exonic exonic KIAA1324 KIAA1324 ENSG00000116299 synonymous SNV synonymous SNV synonymous SNV KIAA1324:NM_001267048:exon12:c.T1488C:p.G496G,KIAA1324:NM_020775:exon14:c.T1749C:p.G583G,KIAA1324:NM_001284352:exon13:c.T1443C:p.G481G,KIAA1324:NM_001284353:exon7:c.T735C:p.G245G, KIAA1324:uc009wey.3:exon12:c.T1488C:p.G496G,KIAA1324:uc031pnl.1:exon7:c.T735C:p.G245G,KIAA1324:uc001dwr.3:exon6:c.T699C:p.G233G,KIAA1324:uc009wex.2:exon13:c.T1599C:p.G533G,KIAA1324:uc021orb.1:exon14:c.T1749C:p.G583G,KIAA1324:uc010ovg.3:exon13:c.T1443C:p.G481G, ENSG00000116299:ENST00000529753:exon12:c.T1488C:p.G496G,ENSG00000116299:ENST00000457623:exon13:c.T1599C:p.G533G,ENSG00000116299:ENST00000369939:exon14:c.T1749C:p.G583G, Het;T>C 1565;77|67 Het;T>C 1556;67|66 Hom;T>C 2695;0|92 N N - 1 109735416 109735416 A C snp nonsynonymous SNV A1606C T536P polar,hydrophilic,neutral hydrophobic,neutral KIAA1324 5330417C22Rik ENSG00000116299 KIAA1324 chr1:109656301-109749401 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324 https://www.uniprot.org/uniprot/Q6UXG2 https://www.ncbi.nlm.nih.gov/omim/?term=611298 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324 rs659543 0.740016 0.6363 0.7829 0.08 1 13 exonic exonic exonic KIAA1324 KIAA1324 ENSG00000116299 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_001284353:exon7:c.A853C:p.T285P, KIAA1324:uc009wey.3:exon12:c.A1606C:p.T536P,KIAA1324:uc031pnl.1:exon7:c.A853C:p.T285P,KIAA1324:uc001dwr.3:exon6:c.A817C:p.T273P,KIAA1324:uc009wex.2:exon13:c.A1717C:p.T573P,KIAA1324:uc021orb.1:exon14:c.A1867C:p.T623P,KIAA1324:uc010ovg.3:exon13:c.A1561C:p.T521P, ENSG00000116299:ENST00000529753:exon12:c.A1606C:p.T536P,ENSG00000116299:ENST00000457623:exon13:c.A1717C:p.T573P,ENSG00000116299:ENST00000369939:exon14:c.A1867C:p.T623P, Het;A>C 1310;69|58 Het;A>C 1419;81|61 Hom;A>C 3962;2|143 N N - 1 109735504 109735504 T C snp intronic KIAA1324 5330417C22Rik ENSG00000116299 KIAA1324 chr1:109656301-109749401 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Cholesterol, LDL; Tobacco Use Disorder; Lipoproteins, VLDL; Natriuretic Peptide, Brain Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0009267;cellular response to starvation;IMP|GO:0044090;positive regulation of vacuole organization;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1324 https://www.uniprot.org/uniprot/Q6UXG2 https://www.ncbi.nlm.nih.gov/omim/?term=611298 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1324&submit=Quick%0D%4735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1324 rs659659 0.741414 0.6366 0.7835 1 0 0 intronic intronic intronic KIAA1324 KIAA1324 ENSG00000116299 Na Na Na Na Na Na Het;T>C 687;27|26 Het;T>C 728;27|30 Hom;T>C 1736;0|60 N N - 1 110295772 110295772 T C snp synonymous SNV A1167G S389S polar,hydrophilic,neutral polar,hydrophilic,neutral EPS8L3 Eps8l3 ENSG00000198758 EPS8 like 3 chr1:110292702-110306649 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] Paget's disease; Osteitis Deformans; Parkinson Disease GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPS8L3 https://hpo.jax.org/app/browse/search?q=EPS8L3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614989 http://www.informatics.jax.org/searchtool/Search.do?query=EPS8L3&submit=Quick%0D%16994ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPS8L3 rs1887547 0.770168 0.6893 0.6614 1 0 0 exonic exonic exonic EPS8L3 EPS8L3 ENSG00000198758 synonymous SNV synonymous SNV synonymous SNV EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S, EPS8L3:uc001dyr.2:exon13:c.A1167G:p.S389S,EPS8L3:uc001dyq.2:exon13:c.A1170G:p.S390S,EPS8L3:uc009wfn.2:exon13:c.A1092G:p.S364S,EPS8L3:uc001dys.2:exon13:c.A1167G:p.S389S,EPS8L3:uc009wfm.2:exon12:c.A1068G:p.S356S,EPS8L3:uc009wfo.2:exon12:c.A1008G:p.S336S, ENSG00000198758:ENST00000369805:exon13:c.A1170G:p.S390S,ENSG00000198758:ENST00000361852:exon13:c.A1167G:p.S389S,ENSG00000198758:ENST00000361965:exon13:c.A1167G:p.S389S, Het;T>C 753;26|37 Het;T>C 860;35|42 Hom;T>C 1896;0|76 N N - 1 110295890 110295890 C G snp ncRNA_intronic AL158847.1 rs1887548 0.767173 0 0 1 0 0 intronic intronic ncRNA_intronic EPS8L3 EPS8L3 ENSG00000241720 Na Na Na Na Na Na Het;C>G 193;7|11 Het;C>G 182;12|8 Hom;C>G 622;0|18 N N - 1 110300441 110300441 G A snp nonsynonymous SNV C877T H293Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic EPS8L3 Eps8l3 ENSG00000198758 EPS8 like 3 chr1:110292702-110306649 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] Paget's disease; Osteitis Deformans; Parkinson Disease GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPS8L3 https://hpo.jax.org/app/browse/search?q=EPS8L3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614989 http://www.informatics.jax.org/searchtool/Search.do?query=EPS8L3&submit=Quick%0D%16994ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPS8L3 rs3818562 0.473243 0.4034 0.4843 0.08 1 13 exonic exonic exonic EPS8L3 EPS8L3 ENSG00000198758 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y, EPS8L3:uc001dyr.2:exon10:c.C877T:p.H293Y,EPS8L3:uc001dyq.2:exon10:c.C880T:p.H294Y,EPS8L3:uc009wfn.2:exon10:c.C802T:p.H268Y,EPS8L3:uc001dys.2:exon10:c.C877T:p.H293Y,EPS8L3:uc009wfm.2:exon9:c.C778T:p.H260Y,EPS8L3:uc009wfo.2:exon9:c.C718T:p.H240Y, ENSG00000198758:ENST00000369805:exon10:c.C880T:p.H294Y,ENSG00000198758:ENST00000361852:exon10:c.C877T:p.H293Y,ENSG00000198758:ENST00000361965:exon10:c.C877T:p.H293Y, Het;G>A 643;47|31 Het;G>A 713;27|35 Hom;G>A 2423;0|92 N N - 1 110827472 110827472 C G snp intergenic KCNC4 Kcnc4 ENSG00000116396 potassium voltage-gated channel subfamily C member 4 chr1:110753965-110825722 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] Hemoglobins Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0046928;regulation of neurotransmitter secretion;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043679;axon terminus;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNC4 https://www.uniprot.org/uniprot/Q03721 https://www.ncbi.nlm.nih.gov/omim/?term=176265 http://www.informatics.jax.org/searchtool/Search.do?query=KCNC4&submit=Quick%0D%4740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNC4 rs3849184 0.399161 0 0 1 0 0 intergenic intergenic intergenic KCNC4(dist=50798),LOC440600(dist=1527) SNORA25(dist=12243),LOC440600(dist=1527) ENSG00000200536(dist=12243),ENSG00000227963(dist=1525) Na Na Na Na Na Na Het;C>G 51;1|3 Ref Hom;C>G 71;0|4 N N - 1 111436857 111436857 T G snp intronic CD53 Cd53 ENSG00000143119 CD53 molecule chr1:111415775-111442550 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Hemoglobin A, Glycosylated; Body Mass Index; Alcoholism; Cytomegalovirus Vaccines; Type 2 Diabetes| edema | rosiglitazone B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. Neutrophil degranulation GO:0007165;signal transduction;NAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0043312;neutrophil degranulation;TAS|GO:1901741;positive regulation of myoblast fusion;IEA GO:0001772;immunological synapse;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005911;cell-cell junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CD53 https://www.uniprot.org/uniprot/P19397 https://www.ncbi.nlm.nih.gov/omim/?term=151525 http://www.informatics.jax.org/searchtool/Search.do?query=CD53&submit=Quick%0D%8365ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD53 rs1578956 0.559704 0 0 1 0 0 intronic intronic intronic CD53 CD53 ENSG00000143119 Na Na Na Na Na Na Het;T>G 399;8|10 Ref Hom;T>G 556;0|13 N N - 1 111436858 111436858 C T snp intronic CD53 Cd53 ENSG00000143119 CD53 molecule chr1:111415775-111442550 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Hemoglobin A, Glycosylated; Body Mass Index; Alcoholism; Cytomegalovirus Vaccines; Type 2 Diabetes| edema | rosiglitazone B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. Neutrophil degranulation GO:0007165;signal transduction;NAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0043312;neutrophil degranulation;TAS|GO:1901741;positive regulation of myoblast fusion;IEA GO:0001772;immunological synapse;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005911;cell-cell junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CD53 https://www.uniprot.org/uniprot/P19397 https://www.ncbi.nlm.nih.gov/omim/?term=151525 http://www.informatics.jax.org/searchtool/Search.do?query=CD53&submit=Quick%0D%8365ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD53 rs1936943 0.559704 0 0 1 0 0 intronic intronic intronic CD53 CD53 ENSG00000143119 Na Na Na Na Na Na Het;C>T 399;8|11 Ref Hom;C>T 556;0|13 N N - 1 111441829 111441829 C T snp UTR3 *12C>T CD53 Cd53 ENSG00000143119 CD53 molecule chr1:111415775-111442550 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Hemoglobin A, Glycosylated; Body Mass Index; Alcoholism; Cytomegalovirus Vaccines; Type 2 Diabetes| edema | rosiglitazone B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. Neutrophil degranulation GO:0007165;signal transduction;NAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0043312;neutrophil degranulation;TAS|GO:1901741;positive regulation of myoblast fusion;IEA GO:0001772;immunological synapse;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005911;cell-cell junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CD53 https://www.uniprot.org/uniprot/P19397 https://www.ncbi.nlm.nih.gov/omim/?term=151525 http://www.informatics.jax.org/searchtool/Search.do?query=CD53&submit=Quick%0D%8365ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD53 rs1803259 0.556709 0.6364 0.6871 1 0 0 UTR3 UTR3 UTR3 CD53(NM_001040033:c.*12C>T,NM_000560:c.*12C>T) CD53(uc001dzw.3:c.*12C>T,uc001dzx.3:c.*12C>T,uc010owa.2:c.*12C>T) ENSG00000143119(ENST00000429072:c.*12C>T,ENST00000271324:c.*12C>T) Na Na Na Na Na Na Het;C>T 821;16|36 Ref Hom;C>T 924;0|34 N N - 1 111726026 111726026 G A snp intronic CEPT1 Cept1 ENSG00000134255 choline/ethanolamine phosphotransferase 1 chr1:111682249-111727724 This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] Tobacco Use Disorder; gamma-Glutamyltransferase Conditional homozygous knockout in skeletal muscle leads to improved glucose tolerance, increased insulin sensitivity and muscle weakness in mice fed a high fat diet. Synthesis of PE GO:0006629;lipid metabolic process;TAS|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;IEA|GO:0008654;phospholipid biosynthetic process;IEA GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0031965;nuclear membrane;IEA GO:0004142;diacylglycerol cholinephosphotransferase activity;TAS|GO:0004307;ethanolaminephosphotransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016780;phosphotransferase activity, for other substituted phosphate groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEPT1 https://www.uniprot.org/uniprot/Q9Y6K0 https://www.ncbi.nlm.nih.gov/omim/?term=616751 http://www.informatics.jax.org/searchtool/Search.do?query=CEPT1&submit=Quick%0D%6942ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEPT1 rs2243393 0.488219 0 0 1 0 0 intronic intronic intronic CEPT1 CEPT1 ENSG00000134255 Na Na Na Na Na Na Het;G>A 134;10|7 Ref Hom;G>A 1025;0|33 N N - 1 111726213 111726213 A G snp intronic CEPT1 Cept1 ENSG00000134255 choline/ethanolamine phosphotransferase 1 chr1:111682249-111727724 This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] Tobacco Use Disorder; gamma-Glutamyltransferase Conditional homozygous knockout in skeletal muscle leads to improved glucose tolerance, increased insulin sensitivity and muscle weakness in mice fed a high fat diet. Synthesis of PE GO:0006629;lipid metabolic process;TAS|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;IEA|GO:0008654;phospholipid biosynthetic process;IEA GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0031965;nuclear membrane;IEA GO:0004142;diacylglycerol cholinephosphotransferase activity;TAS|GO:0004307;ethanolaminephosphotransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016780;phosphotransferase activity, for other substituted phosphate groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEPT1 https://www.uniprot.org/uniprot/Q9Y6K0 https://www.ncbi.nlm.nih.gov/omim/?term=616751 http://www.informatics.jax.org/searchtool/Search.do?query=CEPT1&submit=Quick%0D%6942ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEPT1 rs694180 0.754992 0.7101 0.7003 1 0 0 intronic intronic intronic CEPT1 CEPT1 ENSG00000134255 Na Na Na Na Na Na Het;A>G 849;32|37 Ref Hom;A>G 3046;0|110 N N - 1 111730901 111730901 C T snp synonymous SNV G1182A E394E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) DENND2D Dennd2d ENSG00000162777 DENN domain containing 2D chr1:111729796-111747157 Triglycerides RAB GEFs exchange GTP for GDP on RABs GO:0043547;positive regulation of GTPase activity;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DENND2D https://www.ncbi.nlm.nih.gov/omim/?term=615111 http://www.informatics.jax.org/searchtool/Search.do?query=DENND2D&submit=Quick%0D%10801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2D rs608881 0.146965 0.2033 0.1833 1 0 0 exonic exonic exonic DENND2D DENND2D ENSG00000162777 synonymous SNV synonymous SNV synonymous SNV DENND2D:NM_001271833:exon11:c.G1182A:p.E394E,DENND2D:NM_024901:exon11:c.G1191A:p.E397E, DENND2D:uc001eak.2:exon11:c.G1191A:p.E397E,DENND2D:uc001eal.2:exon11:c.G1182A:p.E394E, ENSG00000162777:ENST00000357640:exon11:c.G1191A:p.E397E,ENSG00000162777:ENST00000369752:exon11:c.G1182A:p.E394E, Het;C>T 584;43|28 Ref Hom;C>T 1967;4|79 N N - 1 111737183 111737183 C T snp intronic DENND2D Dennd2d ENSG00000162777 DENN domain containing 2D chr1:111729796-111747157 Triglycerides RAB GEFs exchange GTP for GDP on RABs GO:0043547;positive regulation of GTPase activity;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DENND2D https://www.ncbi.nlm.nih.gov/omim/?term=615111 http://www.informatics.jax.org/searchtool/Search.do?query=DENND2D&submit=Quick%0D%10801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND2D rs660173 0.767971 0.7241 0.7169 1 0 0 intronic intronic intronic DENND2D DENND2D ENSG00000162777 Na Na Na Na Na Na Het;C>T 803;23|33 Het;C>T 691;24|33 Hom;C>T 1416;0|53 N N - 1 111827898 111827898 G A snp ncRNA_exonic CHIAP2 rs41281400 0.303315 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CHIAP2 CHIAP2 ENSG00000203878 Na Na Na Na Na Na Het;G>A 2208;110|95 Het;G>A 2046;82|89 Hom;G>A 4291;3|160 N N - 1 111854207 111854207 T C snp intronic CHIA Chia1 ENSG00000134216 chitinase, acidic chr1:111833484-111863188 The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged. Digestion of dietary carbohydrate GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CHIA https://www.uniprot.org/uniprot/Q9BZP6 https://www.ncbi.nlm.nih.gov/omim/?term=606080 http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA rs4839122 0.686701 0 0 1 0 0 intronic intronic intronic CHIA CHIA ENSG00000134216 Na Na Na Na Na Na Het;T>C 488;21|15 Ref Hom;T>C 1185;0|30 N N - 1 112020222 112020223 GC G indel intronic C1orf162 I830077J02Rik ENSG00000143110 chromosome 1 open reading frame 162 chr1:112016414-112021134 Hemoglobin A, Glycosylated GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C1orf162 https://www.uniprot.org/uniprot/Q8NEQ5 http://www.informatics.jax.org/searchtool/Search.do?query=C1orf162&submit=Quick%0D%8364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf162 rs3831358 0.000199681 0.6891 0.7178 1 0 0 intronic intronic intronic C1orf162 C1orf162 ENSG00000143110 Na Na Na Na Na Na Het;-C 889;12|23 Ref Hom;-C 2117;0|45 N N - 1 112020224 112020224 C A snp intronic C1orf162 I830077J02Rik ENSG00000143110 chromosome 1 open reading frame 162 chr1:112016414-112021134 Hemoglobin A, Glycosylated GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C1orf162 https://www.uniprot.org/uniprot/Q8NEQ5 http://www.informatics.jax.org/searchtool/Search.do?query=C1orf162&submit=Quick%0D%8364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf162 rs115634476 0 0 0.7121 1 0 0 intronic intronic intronic C1orf162 C1orf162 ENSG00000143110 Na Na Na Na Na Na Het;C>A 898;11|23 Ref Hom;C>A 2126;0|46 N N - 1 112297773 112297773 C T snp ncRNA_intronic BC041890 rs527587973 0.00119808 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic LOC101928718 BC041890 ENSG00000197852 Na Na Na Na Na Na Het;C>T 100;5|5 Ref Hom;C>T 84;0|3 N N - 1 114196495 114196495 A G snp synonymous SNV A2484G T828T polar,hydrophilic,neutral polar,hydrophilic,neutral MAGI3 Magi3 ENSG00000081026 membrane associated guanylate kinase, WW and PDZ domain containing 3 chr1:113933371-114228545 Glucose; Tobacco Use Disorder GO:0006915;apoptotic process;NAS|GO:0007165;signal transduction;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0046037;GMP metabolic process;IEA|GO:0046328;regulation of JNK cascade;IEA|GO:0046710;GDP metabolic process;IEA GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0000166;nucleotide binding;IEA|GO:0004385;guanylate kinase activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAGI3 https://www.uniprot.org/uniprot/Q5TCQ9 https://www.ncbi.nlm.nih.gov/omim/?term=615943 http://www.informatics.jax.org/searchtool/Search.do?query=MAGI3&submit=Quick%0D%1754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI3 rs2359173 0.194289 0.2238 0.2628 1 0 0 exonic exonic exonic MAGI3 MAGI3 ENSG00000081026 synonymous SNV synonymous SNV synonymous SNV MAGI3:NM_152900:exon15:c.A2484G:p.T828T,MAGI3:NM_001142782:exon15:c.A2484G:p.T828T, MAGI3:uc001edi.4:exon15:c.A2484G:p.T828T,MAGI3:uc001edj.3:exon11:c.A1647G:p.T549T,MAGI3:uc010owm.2:exon16:c.A2559G:p.T853T,MAGI3:uc001edh.3:exon16:c.A2559G:p.T853T,MAGI3:uc001edk.3:exon15:c.A2484G:p.T828T, ENSG00000081026:ENST00000369617:exon16:c.A2559G:p.T853T,ENSG00000081026:ENST00000307546:exon15:c.A2484G:p.T828T,ENSG00000081026:ENST00000369615:exon15:c.A2484G:p.T828T,ENSG00000081026:ENST00000369611:exon15:c.A2484G:p.T828T, Het;A>G 341;35|18 Het;A>G 464;38|28 Hom;A>G 1113;0|43 N N - 1 114201994 114201996 CTG C indel intronic MAGI3 Magi3 ENSG00000081026 membrane associated guanylate kinase, WW and PDZ domain containing 3 chr1:113933371-114228545 Glucose; Tobacco Use Disorder GO:0006915;apoptotic process;NAS|GO:0007165;signal transduction;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0046037;GMP metabolic process;IEA|GO:0046328;regulation of JNK cascade;IEA|GO:0046710;GDP metabolic process;IEA GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0000166;nucleotide binding;IEA|GO:0004385;guanylate kinase activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAGI3 https://www.uniprot.org/uniprot/Q5TCQ9 https://www.ncbi.nlm.nih.gov/omim/?term=615943 http://www.informatics.jax.org/searchtool/Search.do?query=MAGI3&submit=Quick%0D%1754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI3 rs35373114 0.194888 0 0 1 0 0 intronic intronic intronic MAGI3 MAGI3 ENSG00000081026 Na Na Na Na Na Na Het;-TG 501;11|14 Het;-TG 303;11|9 Hom;-TG 938;0|24 N N - 1 114247446 114247446 G A snp intronic PHTF1 Phtf1 ENSG00000116793 putative homeodomain transcription factor 1 chr1:114239453-114302111 type 1 diabetes; Tobacco Use Disorder; Diabetes Mellitus, Type 1 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005801;cis-Golgi network;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/PHTF1 https://www.uniprot.org/uniprot/Q9UMS5 https://www.ncbi.nlm.nih.gov/omim/?term=604950 http://www.informatics.jax.org/searchtool/Search.do?query=PHTF1&submit=Quick%0D%4795ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHTF1 rs56275921 0.0722843 0.0838 0.1024 1 0 0 intronic intronic intronic PHTF1 PHTF1 ENSG00000116793 Na Na Na Na Na Na Het;G>A 758;38|36 Het;G>A 357;30|20 Hom;G>A 1465;0|55 N N - 1 114397799 114397799 C T snp ncRNA_intronic AP4B1-AS1 rs3789609 0.195487 0 0 1 0 0 ncRNA_intronic intronic intronic AP4B1-AS1 PTPN22 ENSG00000134242 Na Na Na Na Na Na Het;C>T 313;8|10 Het;C>T 96;10|5 Hom;C>T 522;0|17 N N - 1 115080517 115080517 G A snp downstream PKMP1 rs6674801 0.406949 0 0 1 0 0 intergenic intergenic downstream TRIM33(dist=26736),BCAS2(dist=29664) NONE(dist=NONE),NONE(dist=NONE) ENSG00000236480 Na Na Na Na Na Na Het;G>A 73;6|4 Het;G>A 139;10|7 Hom;G>A 336;0|12 N N - 1 115110683 115110683 A C snp UTR3 *68T>G BCAS2 Bcas2 ENSG00000116752 BCAS2, pre-mRNA processing factor chr1:115110178-115124260 Mice homozygous for a knock-out allele exhibit complete lethality. Pups of dams homozygous for a conditional allele activated in oocytes exhibit lethality of pups associated with defects in DNA damage repair and DNA replication. mRNA Splicing - Major Pathway GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0000974;Prp19 complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005662;DNA replication factor A complex;IDA|GO:0005681;spliceosomal complex;IDA|GO:0005730;nucleolus;IEA|GO:0005813;centrosome;IDA|GO:0016607;nuclear speck;IDA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BCAS2 https://www.uniprot.org/uniprot/O75934 https://www.ncbi.nlm.nih.gov/omim/?term=605783 http://www.informatics.jax.org/searchtool/Search.do?query=BCAS2&submit=Quick%0D%4786ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAS2 rs8128 0.470048 0 0 1 0 0 UTR3 UTR3 UTR3 BCAS2(NM_005872:c.*68T>G) BCAS2(uc001efa.3:c.*68T>G) ENSG00000116752(ENST00000369541:c.*68T>G) Na Na Na Na Na Na Het;A>C 1114;62|50 Het;A>C 1624;66|74 Hom;A>C 4005;0|154 N N - 1 116459331 116459331 A T snp downstream AL357137.1 rs10127518 0.265775 0 0 1 0 0 intergenic intergenic downstream NHLH2(dist=75584),LOC101928995(dist=2666) NHLH2(dist=75584),BC043254(dist=2666) ENSG00000271143 Na Na Na Na Na Na Het;A>T 193;6|9 Het;A>T 255;4|13 Hom;A>T 56;0|3 N N - 1 116468230 116468230 G A snp ncRNA_exonic LOC101928995 rs6695053 0.246605 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928995 BC043254 ENSG00000228127 Na Na Na Na Na Na Het;G>A 1871;114|86 Het;G>A 1773;82|81 Hom;G>A 3290;0|117 N N - 1 116519957 116519957 C T snp intronic SLC22A15 Slc22a15 ENSG00000163393 solute carrier family 22 member 15 chr1:116519119-116612675 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004] Tobacco Use Disorder Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A15 https://www.ncbi.nlm.nih.gov/omim/?term=608275 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A15&submit=Quick%0D%10953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A15 rs2452551 0.451278 0 0 1 0 0 intronic intronic intronic SLC22A15 SLC22A15 ENSG00000163393 Na Na Na Na Na Na Het;C>T 361;28|18 Het;C>T 506;11|22 Hom;C>T 1736;0|62 N N - 1 116534952 116534952 G T snp intronic SLC22A15 Slc22a15 ENSG00000163393 solute carrier family 22 member 15 chr1:116519119-116612675 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004] Tobacco Use Disorder Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A15 https://www.ncbi.nlm.nih.gov/omim/?term=608275 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A15&submit=Quick%0D%10953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A15 rs10923941 0.260982 0 0 1 0 0 intronic intronic intronic SLC22A15 SLC22A15 ENSG00000163393 Na Na Na Na Na Na Het;G>T 623;7|16 Het;G>T 200;8|6 Hom;G>T 737;0|17 N N - 1 116534953 116534953 C T snp intronic SLC22A15 Slc22a15 ENSG00000163393 solute carrier family 22 member 15 chr1:116519119-116612675 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004] Tobacco Use Disorder Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A15 https://www.ncbi.nlm.nih.gov/omim/?term=608275 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A15&submit=Quick%0D%10953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A15 rs10923942 0.260982 0 0 1 0 0 intronic intronic intronic SLC22A15 SLC22A15 ENSG00000163393 Na Na Na Na Na Na Het;C>T 623;7|16 Het;C>T 200;6|6 Hom;C>T 737;0|17 N N - 1 116710945 116710945 C A snp intergenic MAB21L3 Mab21l3 ENSG00000173212 mab-21 like 3 chr1:116654376-116677861 Hemoglobin A, Glycosylated; Myocardial Infarction GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAB21L3 http://www.informatics.jax.org/searchtool/Search.do?query=MAB21L3&submit=Quick%0D%13312ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAB21L3 rs28693860 0.454473 0 0 1 0 0 intergenic intergenic intergenic MAB21L3(dist=33084),ATP1A1(dist=204850) MAB21L3(dist=33084),U3(dist=110283) ENSG00000235933(dist=2083),ENSG00000221040(dist=110283) Na Na Na Na Na Na Het;C>A 82;2|5 Het;C>A 48;1|3 Hom;C>A 107;0|5 N N - 1 116948712 116948712 G A snp ncRNA_exonic ATP1A1-AS1 rs850610 0.418131 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ATP1A1-AS1 ATP1A1OS ENSG00000203865 Na Na Na Na Na Na Het;G>A 2340;99|104 Het;G>A 1450;76|73 Hom;G>A 4256;2|147 N N - 1 117256697 117256697 A C snp ncRNA_exonic GAPDHP64 rs9887785 0.578474 0 0 1 0 0 intergenic intergenic ncRNA_exonic C1orf137(dist=7472),CD2(dist=40389) MIR320B1(dist=42248),CD2(dist=40389) ENSG00000231072 Na Na Na Na Na Na Het;A>C 210;17|11 Ref Hom;A>C 506;0|17 N N - 1 117569390 117569390 C T snp ncRNA_exonic LOC101929099 rs2764878 0.558906 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101929099 CD101 ENSG00000236137 Na Na Na Na Na Na Het;C>T 1308;75|61 Ref Hom;C>T 3216;0|119 N N - 1 117686492 117686492 C A snp UTR3 *1401G>T VTCN1 Vtcn1 ENSG00000134258 V-set domain containing T-cell activation inhibitor 1 chr1:117686209-117753556 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Hip; Arthritis, Juvenile Rheumatoid; breast cancer ; Blood Pressure; Arthritis (juvenile idiopathic) Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal. GO:0001562;response to protozoan;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:1900042;positive regulation of interleukin-2 secretion;IEA GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VTCN1 https://www.uniprot.org/uniprot/Q7Z7D3 https://www.ncbi.nlm.nih.gov/omim/?term=608162 http://www.informatics.jax.org/searchtool/Search.do?query=VTCN1&submit=Quick%0D%6944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VTCN1 rs13505 0.789936 0 0 1 0 0 UTR3 UTR3 UTR3 VTCN1(NM_001253849:c.*1401G>T,NM_024626:c.*1401G>T,NM_001253850:c.*1401G>T) VTCN1(uc021osn.1:c.*1401G>T,uc001ehb.3:c.*1401G>T,uc001ehc.3:c.*1401G>T,uc009whf.2:c.*1401G>T) ENSG00000134258(ENST00000328189:c.*1401G>T,ENST00000369458:c.*1401G>T,ENST00000359008:c.*1401G>T) Na Na Na Na Na Na Het;C>A 955;50|40 Het;C>A 1451;61|64 Hom;C>A 3286;0|113 N N - 1 117686827 117686827 C T snp UTR3 *1066G>A VTCN1 Vtcn1 ENSG00000134258 V-set domain containing T-cell activation inhibitor 1 chr1:117686209-117753556 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Hip; Arthritis, Juvenile Rheumatoid; breast cancer ; Blood Pressure; Arthritis (juvenile idiopathic) Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal. GO:0001562;response to protozoan;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:1900042;positive regulation of interleukin-2 secretion;IEA GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VTCN1 https://www.uniprot.org/uniprot/Q7Z7D3 https://www.ncbi.nlm.nih.gov/omim/?term=608162 http://www.informatics.jax.org/searchtool/Search.do?query=VTCN1&submit=Quick%0D%6944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VTCN1 rs6428679 0.789736 0 0 1 0 0 UTR3 UTR3 UTR3 VTCN1(NM_001253849:c.*1066G>A,NM_024626:c.*1066G>A,NM_001253850:c.*1066G>A) VTCN1(uc021osn.1:c.*1066G>A,uc001ehb.3:c.*1066G>A,uc001ehc.3:c.*1066G>A,uc009whf.2:c.*1066G>A) ENSG00000134258(ENST00000328189:c.*1066G>A,ENST00000369458:c.*1066G>A,ENST00000359008:c.*1066G>A) Na Na Na Na Na Na Het;C>T 1519;97|72 Het;C>T 1167;136|63 Hom;C>T 5267;0|190 N N - 1 117686914 117686914 C T snp UTR3 *979G>A VTCN1 Vtcn1 ENSG00000134258 V-set domain containing T-cell activation inhibitor 1 chr1:117686209-117753556 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Hip; Arthritis, Juvenile Rheumatoid; breast cancer ; Blood Pressure; Arthritis (juvenile idiopathic) Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal. GO:0001562;response to protozoan;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:1900042;positive regulation of interleukin-2 secretion;IEA GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VTCN1 https://www.uniprot.org/uniprot/Q7Z7D3 https://www.ncbi.nlm.nih.gov/omim/?term=608162 http://www.informatics.jax.org/searchtool/Search.do?query=VTCN1&submit=Quick%0D%6944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VTCN1 rs6664759 0.789736 0 0 1 0 0 UTR3 UTR3 UTR3 VTCN1(NM_001253849:c.*979G>A,NM_024626:c.*979G>A,NM_001253850:c.*979G>A) VTCN1(uc021osn.1:c.*979G>A,uc001ehb.3:c.*979G>A,uc001ehc.3:c.*979G>A,uc009whf.2:c.*979G>A) ENSG00000134258(ENST00000328189:c.*979G>A,ENST00000369458:c.*979G>A,ENST00000359008:c.*979G>A) Na Na Na Na Na Na Het;C>T 1331;64|60 Het;C>T 1126;106|58 Hom;C>T 4791;0|172 N N - 1 117687125 117687125 A T snp UTR3 *768T>A VTCN1 Vtcn1 ENSG00000134258 V-set domain containing T-cell activation inhibitor 1 chr1:117686209-117753556 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Hip; Arthritis, Juvenile Rheumatoid; breast cancer ; Blood Pressure; Arthritis (juvenile idiopathic) Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal. GO:0001562;response to protozoan;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0050868;negative regulation of T cell activation;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0072643;interferon-gamma secretion;IEA|GO:1900042;positive regulation of interleukin-2 secretion;IEA GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VTCN1 https://www.uniprot.org/uniprot/Q7Z7D3 https://www.ncbi.nlm.nih.gov/omim/?term=608162 http://www.informatics.jax.org/searchtool/Search.do?query=VTCN1&submit=Quick%0D%6944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VTCN1 rs1937956 0.790136 0 0 1 0 0 UTR3 UTR3 UTR3 VTCN1(NM_001253849:c.*768T>A,NM_024626:c.*768T>A,NM_001253850:c.*768T>A) VTCN1(uc021osn.1:c.*768T>A,uc001ehb.3:c.*768T>A,uc001ehc.3:c.*768T>A,uc009whf.2:c.*768T>A) ENSG00000134258(ENST00000328189:c.*768T>A,ENST00000369458:c.*768T>A,ENST00000359008:c.*768T>A) Na Na Na Na Na Na Het;A>T 1666;53|72 Het;A>T 1471;80|67 Hom;A>T 3574;0|124 N N - 1 118165691 118165691 C T snp synonymous SNV C201T H67H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) FAM46C Fam46c ENSG00000183508 family with sequence similarity 46 member C chr1:118148556-118170994 Respiratory Function Tests Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM46C https://www.ncbi.nlm.nih.gov/omim/?term=613952 http://www.informatics.jax.org/searchtool/Search.do?query=FAM46C&submit=Quick%0D%15002ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM46C rs1630312 0.207069 0.3063 0.2641 1 0 0 exonic exonic exonic FAM46C FAM46C ENSG00000183508 synonymous SNV synonymous SNV synonymous SNV FAM46C:NM_017709:exon2:c.C201T:p.H67H, FAM46C:uc001ehe.3:exon2:c.C201T:p.H67H,FAM46C:uc021osq.1:exon1:c.C201T:p.H67H, ENSG00000183508:ENST00000369448:exon2:c.C201T:p.H67H, Het;C>T 1361;87|61 Ref Hom;C>T 4203;1|149 N N - 1 118526592 118526592 G A snp intronic SPAG17 Spag17 ENSG00000155761 sperm associated antigen 17 chr1:118496484-118727846 Lipoproteins, VLDL; Body Height; Height; Cholesterol, HDL; Adiponectin; Crohn Disease|Crohn's disease|Growth Disorders; Lipoproteins; Thyroid Neoplasms; height Homozygous null mice exhibit immotile respiratory cilia with axoneme structural defects, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelium, enlarged brain ventricles consistent with evolving hydrocephalus, failure to suckle, and neonatal lethality. GO:0003351;epithelial cilium movement;IEA|GO:0030030;cell projection organization;IEA|GO:1904158;axonemal central apparatus assembly;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:1990716;axonemal central apparatus;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPAG17 https://www.uniprot.org/uniprot/Q6Q759 https://www.ncbi.nlm.nih.gov/omim/?term=616554 http://www.informatics.jax.org/searchtool/Search.do?query=SPAG17&submit=Quick%0D%9898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAG17 rs4347199 0.850439 0 0 1 0 0 intronic intronic intronic SPAG17 SPAG17 ENSG00000155761 Na Na Na Na Na Na Het;G>A 247;6|10 Het;G>A 653;14|24 Hom;G>A 836;0|28 N N - 1 118823147 118823147 A G snp intergenic SPAG17 Spag17 ENSG00000155761 sperm associated antigen 17 chr1:118496484-118727846 Lipoproteins, VLDL; Body Height; Height; Cholesterol, HDL; Adiponectin; Crohn Disease|Crohn's disease|Growth Disorders; Lipoproteins; Thyroid Neoplasms; height Homozygous null mice exhibit immotile respiratory cilia with axoneme structural defects, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelium, enlarged brain ventricles consistent with evolving hydrocephalus, failure to suckle, and neonatal lethality. GO:0003351;epithelial cilium movement;IEA|GO:0030030;cell projection organization;IEA|GO:1904158;axonemal central apparatus assembly;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:1990716;axonemal central apparatus;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPAG17 https://www.uniprot.org/uniprot/Q6Q759 https://www.ncbi.nlm.nih.gov/omim/?term=616554 http://www.informatics.jax.org/searchtool/Search.do?query=SPAG17&submit=Quick%0D%9898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAG17 rs7515420 0.604832 0 0 1 0 0 intergenic intergenic intergenic SPAG17(dist=95299),TBX15(dist=602519) SPAG17(dist=95299),TBX15(dist=602519) ENSG00000222209(dist=16035),ENSG00000226126(dist=333809) Na Na Na Na Na Na Het;A>G 257;10|8 Ref Hom;A>G 350;0|9 N N - 1 119466275 119466275 A G snp intronic TBX15 Tbx15 ENSG00000092607 T-box 15 chr1:119425669-119532179 This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009] Waist-Hip Ratio; Cleft Lip|Cleft Palate; Tobacco Use Disorder Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IEA|GO:0070722;Tle3-Aes complex;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001106;RNA polymerase II transcription corepressor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBX15 https://www.uniprot.org/uniprot/Q96SF7 https://hpo.jax.org/app/browse/search?q=TBX15&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604127 http://www.informatics.jax.org/searchtool/Search.do?query=TBX15&submit=Quick%0D%2197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX15 rs4659129 0.641573 0.6510 0.6598 1 0 0 intronic intronic intronic TBX15 TBX15 ENSG00000092607 Na Na Na Na Na Na Het;A>G 807;13|32 Het;A>G 676;29|29 Hom;A>G 1486;0|54 N N - 1 119466374 119466374 G T snp intronic TBX15 Tbx15 ENSG00000092607 T-box 15 chr1:119425669-119532179 This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009] Waist-Hip Ratio; Cleft Lip|Cleft Palate; Tobacco Use Disorder Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IEA|GO:0070722;Tle3-Aes complex;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001106;RNA polymerase II transcription corepressor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBX15 https://www.uniprot.org/uniprot/Q96SF7 https://hpo.jax.org/app/browse/search?q=TBX15&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604127 http://www.informatics.jax.org/searchtool/Search.do?query=TBX15&submit=Quick%0D%2197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX15 rs1766793 0.674321 0 0 1 0 0 intronic intronic intronic TBX15 TBX15 ENSG00000092607 Na Na Na Na Na Na Het;G>T 151;1|5 Ref Hom;G>T 165;0|5 N N - 1 119725525 119725525 C T snp ncRNA_exonic LOC101929147 rs35670734 0.519169 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101929147 BC043601 ENSG00000231365 Na Na Na Na Na Na Het;C>T 567;31|28 Het;C>T 765;21|32 Hom;C>T 2149;0|80 N N - 1 120057246 120057246 C A snp nonsynonymous SNV C1100A T367N polar,hydrophilic,neutral polar,hydrophilic,neutral HSD3B1 Hsd3b6 ENSG00000203857 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 chr1:120049821-120057681 The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016] menarche menopause; Type 2 Diabetes| edema | rosiglitazone; breast cancer; hereditary and sporadic prostate cancer susceptibility.; Hypertension; bladder cancer; Maduromycosis|Mycetoma; body mass; esophageal adenocarcinoma; prostatic hyperplasia; polycystic ovary syndrome; Acquired Immunodeficiency Syndrome|Disease Progression; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; patent ductus arteriosus; blood pressure; Bone Mineral Density; Lymphoma, Non-Hodgkin; breast cancer|prostate cancer; lung cancer ; hypertension; Breast Neoplasms|Mammary Neoplasms; chronic obstructive pulmonary disease; Diabetes Mellitus, Type 2|Uremia; lung cancer; prostate cancer Glucocorticoid biosynthesis GO:0006694;steroid biosynthetic process;IEA|GO:0006702;androgen biosynthetic process;TAS|GO:0006703;estrogen biosynthetic process;TAS|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030868;smooth endoplasmic reticulum membrane;ISS|GO:0031966;mitochondrial membrane;IEA GO:0003824;catalytic activity;IEA|GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0004769;steroid delta-isomerase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSD3B1 https://www.ncbi.nlm.nih.gov/omim/?term=109715 http://www.informatics.jax.org/searchtool/Search.do?query=HSD3B1&submit=Quick%0D%17153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD3B1 rs1047303 0.833466 0.7492 0.7554 0.15 2 13 exonic exonic exonic HSD3B1 HSD3B1 ENSG00000203857 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV HSD3B1:NM_000862:exon4:c.C1100A:p.T367N, HSD3B1:uc031pnt.1:exon3:c.C1100A:p.T367N,HSD3B1:uc001ehv.1:exon4:c.C1100A:p.T367N, ENSG00000203857:ENST00000235547:exon4:c.C1106A:p.T369N,ENSG00000203857:ENST00000528909:exon3:c.C1100A:p.T367N,ENSG00000203857:ENST00000369413:exon4:c.C1100A:p.T367N, Het;C>A 166;14|7 Ref Hom;C>A 296;0|10 N N - 1 120088557 120088557 A G snp downstream HSD3BP3 rs1977208 0.832468 0 0 1 0 0 intergenic intergenic downstream HSD3B1(dist=30876),HSD3BP4(dist=17946) HSD3B1(dist=30876),HSD3BP4(dist=17946) ENSG00000249798 Na Na Na Na Na Na Het;A>G 262;11|11 Ref Hom;A>G 796;0|32 N N - 1 120109785 120109785 A G snp ncRNA_exonic HSD3BP4 rs2008694 0.75 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;A>G 247;63|21 Het;A>G 480;43|26 Hom;A>G 1458;0|56 N N - 1 120111002 120111002 A G snp ncRNA_exonic HSD3BP4 rs10802113 0.685503 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;A>G 901;39|39 Het;A>G 1318;42|58 Hom;A>G 2012;0|71 N N - 1 120111383 120111383 T C snp ncRNA_exonic HSD3BP4 rs4659206 0.782348 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;T>C 134;12|5 Het;T>C 158;8|8 Hom;T>C 340;0|12 N N - 1 120111468 120111468 A G snp ncRNA_exonic HSD3BP4 rs4659207 0.75619 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;A>G 325;16|12 Het;A>G 139;15|7 Hom;A>G 795;0|24 N N - 1 120111662 120111662 T C snp ncRNA_exonic HSD3BP4 rs2885796 0.721046 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;T>C 1428;80|70 Het;T>C 1492;78|72 Hom;T>C 3479;0|132 N N - 1 120113504 120113504 G T snp ncRNA_exonic HSD3BP4 rs10733104 0.788538 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;G>T 1401;72|61 Het;G>T 1568;61|71 Hom;G>T 4308;0|121 N N - 1 120114879 120114879 T C snp ncRNA_exonic HSD3BP4 rs3862258 0.74401 0 0 1 0 0 ncRNA_exonic ncRNA_exonic downstream HSD3BP4 HSD3BP4 ENSG00000203855 Na Na Na Na Na Na Het;T>C 1827;66|71 Het;T>C 1615;73|67 Hom;T>C 4451;0|155 N N - 1 120254506 120254506 A G snp UTR5 -12931A>G PHGDH Phgdh ENSG00000092621 phosphoglycerate dehydrogenase chr1:120202421-120286838 This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] schizophrenia; Chronic renal failure|Kidney Failure, Chronic; Tunica Media; Metabolism Mice homozygous for a null allele die by E13.5 and exhibit abnormal neural development. Serine biosynthesis GO:0006541;glutamine metabolic process;IEA|GO:0006544;glycine metabolic process;IEA|GO:0006563;L-serine metabolic process;IEA|GO:0006564;L-serine biosynthetic process;IEA|GO:0006566;threonine metabolic process;IEA|GO:0007420;brain development;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0019530;taurine metabolic process;IEA|GO:0021510;spinal cord development;IEA|GO:0021782;glial cell development;IEA|GO:0021915;neural tube development;IEA|GO:0022008;neurogenesis;IEA|GO:0031175;neuron projection development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070314;G1 to G0 transition;IEA GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0004617;phosphoglycerate dehydrogenase activity;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0030060;L-malate dehydrogenase activity;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHGDH https://www.uniprot.org/uniprot/O43175 https://hpo.jax.org/app/browse/search?q=PHGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606879 http://www.informatics.jax.org/searchtool/Search.do?query=PHGDH&submit=Quick%0D%2198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHGDH rs561931 0.698283 0 0 1 0 0 UTR5 UTR5 upstream PHGDH(NM_006623:c.-140A>G) PHGDH(uc009whl.3:c.-12931A>G,uc001ehz.3:c.-140A>G,uc009whm.3:c.-13035A>G) ENSG00000092621 Na Na Na Na Na Na Het;A>G 739;26|29 Ref Hom;A>G 2061;5|64 N N - 1 120254545 120254545 G C snp UTR5 -101G>C PHGDH Phgdh ENSG00000092621 phosphoglycerate dehydrogenase chr1:120202421-120286838 This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] schizophrenia; Chronic renal failure|Kidney Failure, Chronic; Tunica Media; Metabolism Mice homozygous for a null allele die by E13.5 and exhibit abnormal neural development. Serine biosynthesis GO:0006541;glutamine metabolic process;IEA|GO:0006544;glycine metabolic process;IEA|GO:0006563;L-serine metabolic process;IEA|GO:0006564;L-serine biosynthetic process;IEA|GO:0006566;threonine metabolic process;IEA|GO:0007420;brain development;TAS|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009448;gamma-aminobutyric acid metabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0019530;taurine metabolic process;IEA|GO:0021510;spinal cord development;IEA|GO:0021782;glial cell development;IEA|GO:0021915;neural tube development;IEA|GO:0022008;neurogenesis;IEA|GO:0031175;neuron projection development;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070314;G1 to G0 transition;IEA GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0004617;phosphoglycerate dehydrogenase activity;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0030060;L-malate dehydrogenase activity;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHGDH https://www.uniprot.org/uniprot/O43175 https://hpo.jax.org/app/browse/search?q=PHGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606879 http://www.informatics.jax.org/searchtool/Search.do?query=PHGDH&submit=Quick%0D%2198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHGDH rs562038 0.817492 0 0 1 0 0 UTR5 UTR5 UTR5 PHGDH(NM_006623:c.-101G>C) PHGDH(uc009whl.3:c.-12892G>C,uc001ehz.3:c.-101G>C,uc009whm.3:c.-12996G>C) ENSG00000092621(ENST00000369409:c.-101G>C) Na Na Na Na Na Na Het;G>C 828;31|31 Het;G>C 792;37|36 Hom;G>C 1915;1|66 N N - 1 120935661 120935661 T C snp ncRNA_exonic AC244453.3 rs827371 0 0 0 1 0 0 intronic intronic ncRNA_exonic FCGR1B FCGR1B ENSG00000234998 Na Na Na Na Na Na Het;T>C 238;9|9 Het;T>C 217;7|8 Hom;T>C 335;0|10 N N - 1 121116933 121116933 T C snp ncRNA_intronic SRGAP2C ENSG00000171943 SLIT-ROBO Rho GTPase activating protein 2C chr1:121107124-121129949 This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012] GO:0007399;nervous system development;IEA|GO:0021816;extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration;IDA|GO:0030336;negative regulation of cell migration;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051490;negative regulation of filopodium assembly;IDA|GO:0061000;negative regulation of dendritic spine development;IDA|GO:2001224;positive regulation of neuron migration;IDA GO:0005737;cytoplasm;IBA GO:0005096;GTPase activator activity;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0048365;Rac GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SRGAP2C https://www.ncbi.nlm.nih.gov/omim/?term=614704 http://www.informatics.jax.org/searchtool/Search.do?query=SRGAP2C&submit=Quick%0D%13049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRGAP2C rs61806692 0.60024 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic SRGAP2-AS1,SRGAP2D SRGAP2D ENSG00000171943,ENSG00000230806 Na Na Na Na Na Na Het;T>C 384;9|13 Het;T>C 43;13|3 Hom;T>C 517;0|13 N N - 1 121116953 121116953 A G snp ncRNA_intronic SRGAP2C ENSG00000171943 SLIT-ROBO Rho GTPase activating protein 2C chr1:121107124-121129949 This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012] GO:0007399;nervous system development;IEA|GO:0021816;extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration;IDA|GO:0030336;negative regulation of cell migration;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051490;negative regulation of filopodium assembly;IDA|GO:0061000;negative regulation of dendritic spine development;IDA|GO:2001224;positive regulation of neuron migration;IDA GO:0005737;cytoplasm;IBA GO:0005096;GTPase activator activity;IBA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0048365;Rac GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SRGAP2C https://www.ncbi.nlm.nih.gov/omim/?term=614704 http://www.informatics.jax.org/searchtool/Search.do?query=SRGAP2C&submit=Quick%0D%13049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRGAP2C rs2993862 0.654553 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic SRGAP2-AS1,SRGAP2D SRGAP2D ENSG00000171943,ENSG00000230806 Na Na Na Na Na Na Het;A>G 353;7|11 Het;A>G 42;11|3 Hom;A>G 293;0|8 N N - 1 121131009 121131009 G A snp ncRNA_exonic SRGAP2D rs1048832 0.594649 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_intronic SRGAP2D SRGAP2D(dist=1182),NONE(dist=NONE) ENSG00000230806 Na Na Na Na Na Na Het;G>A 94;14|5 Het;G>A 272;13|12 Hom;G>A 694;0|25 N N - 1 121131036 121131036 C T snp ncRNA_exonic SRGAP2D rs12083751 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_intronic SRGAP2D SRGAP2D(dist=1209),NONE(dist=NONE) ENSG00000230806 Na Na Na Na Na Na Het;C>T 125;10|5 Het;C>T 177;8|8 Hom;C>T 541;0|17 N N - 1 121311799 121311799 G A snp ncRNA_exonic EMBP1 rs11249395 0.472843 0 0 1 0 0 ncRNA_exonic UTR3 intergenic EMBP1 EMBP1(uc009wht.1:c.*1208G>A) ENSG00000231752(dist=1208),ENSG00000224857(dist=3945) Na Na Na Na Na Na Het;G>A 1321;52|59 Het;G>A 2210;79|100 Hom;G>A 5738;0|219 N N - 1 121312687 121312687 A G snp ncRNA_exonic EMBP1 rs17842570 0.480431 0 0 1 0 0 ncRNA_exonic UTR3 intergenic EMBP1 EMBP1(uc009wht.1:c.*2096A>G) ENSG00000231752(dist=2096),ENSG00000224857(dist=3057) Na Na Na Na Na Na Het;A>G 1087;85|46 Het;A>G 1535;72|67 Hom;A>G 4186;0|145 N N - 1 12655930 12655930 C T snp intronic DHRS3 Dhrs3 ENSG00000162496 dehydrogenase/reductase 3 chr1:12627939-12677737 Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder Mice homozygous for a targeted mutation die before weaning age. Mice homozygous for a gene trap allele exhibit perinatal lethality, altered retinoid metabolism and heart, craniofacial and skeletal defects. RA biosynthesis pathway GO:0001523;retinoid metabolic process;TAS|GO:0003151;outflow tract morphogenesis;IEA|GO:0007601;visual perception;TAS|GO:0030278;regulation of ossification;IEA|GO:0042572;retinol metabolic process;TAS|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060021;palate development;IEA|GO:0060349;bone morphogenesis;IEA|GO:0060411;cardiac septum morphogenesis;IEA GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042622;photoreceptor outer segment membrane;TAS GO:0000166;nucleotide binding;TAS|GO:0004745;retinol dehydrogenase activity;IEA|GO:0009055;electron carrier activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0052650;NADP-retinol dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DHRS3 https://www.ncbi.nlm.nih.gov/omim/?term=612830 http://www.informatics.jax.org/searchtool/Search.do?query=DHRS3&submit=Quick%0D%10717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHRS3 rs77184154 0.409545 0 0 1 0 0 intronic intronic intronic DHRS3 DHRS3 ENSG00000162496 Na Na Na Na Na Na Het;C>T 203;7|7 Het;C>T 134;1|7 Hom;C>T 110;0|5 N N - 1 142834421 142834421 G T snp ncRNA_intronic BC029473 rs112107323 0.561901 0 0 1 0 0 intergenic ncRNA_intronic intergenic ANKRD20A12P(dist=120816),LOC102723769(dist=300182) BC029473,BC053679,CR936796 ENSG00000232745(dist=7186),ENSG00000231182(dist=116564) Na Na Na Na Na Na Het;G>T 3753;40|162 Het;G>T 2135;30|101 Hom;G>T 3140;0|124 N N - 1 143135595 143135595 A G snp ncRNA_exonic LOC102723769 rs71251255 0.349441 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic LOC102723769 AK056396,CR936796 ENSG00000232274 Na Na Na Na Na Na Het;A>G 322;4|10 Ref Hom;A>G 324;0|10 N N - 1 143159358 143159358 C T snp ncRNA_intronic AK056396 rs72631777 0.336462 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC102723769 AK056396,CR936796 ENSG00000230850,ENSG00000232274,ENSG00000237291 Na Na Na Na Na Na Het;C>T 962;33|47 Ref Hom;C>T 1616;0|63 N N - 1 143230544 143230544 T C snp ncRNA_intronic CR936796 rs192791881 0.344848 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic LOC102723769(dist=28305),MIR6077(dist=442377) CR936796 ENSG00000225278,ENSG00000230850 Na Na Na Na Na Na Het;T>C 136;4|5 Ref Hom;T>C 174;0|6 N N - 1 143270284 143270284 C T snp intergenic LOC102723769 rs71661923 0.348243 0 0 1 0 0 intergenic intergenic intergenic LOC102723769(dist=68045),MIR6077(dist=402637) CR936796(dist=12521),DQ587539(dist=16672) ENSG00000234654(dist=24074),ENSG00000225010(dist=72560) Na Na Na Na Na Na Het;C>T 613;39|26 Ref Hom;C>T 1592;1|57 N N - 1 143270842 143270842 A C snp intergenic LOC102723769 rs61787329 0.449081 0 0 1 0 0 intergenic intergenic intergenic LOC102723769(dist=68603),MIR6077(dist=402079) CR936796(dist=13079),DQ587539(dist=16114) ENSG00000234654(dist=24632),ENSG00000225010(dist=72002) Na Na Na Na Na Na Het;A>C 443;20|19 Ref Hom;A>C 786;0|29 N N - 1 143283350 143283350 T C snp intergenic LOC102723769 rs61786766 0 0 0 1 0 0 intergenic intergenic intergenic LOC102723769(dist=81111),MIR6077(dist=389571) CR936796(dist=25587),DQ587539(dist=3606) ENSG00000234654(dist=37140),ENSG00000225010(dist=59494) Na Na Na Na Na Na Het;T>C 166;9|6 Ref Hom;T>C 152;0|4 N N - 1 143283360 143283360 G T snp intergenic LOC102723769 Na 0 0 0 1 0 0 intergenic intergenic intergenic LOC102723769(dist=81121),MIR6077(dist=389561) CR936796(dist=25597),DQ587539(dist=3596) ENSG00000234654(dist=37150),ENSG00000225010(dist=59484) Na Na Na Na Na Na Het;G>T 102;9|4 Ref Hom;G>T 152;0|4 N N - 1 144521239 144521239 G T snp ncRNA_exonic ENSG00000236943 rs79414006 0.481829 0 0 1 0 0 intronic ncRNA_intronic ncRNA_exonic NBPF20 LOC728875 ENSG00000236943 Na Na Na Na Na Na Het;G>T 631;22|29 Ref Hom;G>T 1425;1|52 N N - 1 144521257 144521257 C A snp ncRNA_exonic ENSG00000236943 rs150001675 0.490216 0 0 1 0 0 intronic ncRNA_intronic ncRNA_exonic NBPF20 LOC728875 ENSG00000236943 Na Na Na Na Na Na Het;C>A 702;20|26 Ref Hom;C>A 1383;0|49 N N - 1 144604202 144604202 G A snp ncRNA_exonic BC073801 rs4649475 0.309904 0 0 1 0 0 intronic ncRNA_exonic ncRNA_intronic NBPF20 BC073801 ENSG00000225241 Na Na Na Na Na Na Het;G>A 106;1|4 Ref Hom;G>A 120;0|4 N N - 1 144612558 144612558 T C snp ncRNA_exonic PFN1P2 rs12093282 0.288139 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PFN1P2 PFN1P2 ENSG00000203843,ENSG00000225241 Na Na Na Na Na Na Het;T>C 1603;55|68 Ref Hom;T>C 3563;1|134 N N - 1 144615250 144615250 G GAA indel frameshift substitution 116_116delinsGAA NBPF8 rs10625215 0.0992412 0 0.0548 1 0 0 exonic exonic ncRNA_exonic NBPF8,NBPF9 NBPF8,NBPF9 ENSG00000225241 unknown frameshift substitution Na UNKNOWN NBPF8:uc031pny.1:exon2:c.116_116delinsGAA,NBPF9:uc031pnx.1:exon3:c.116_116delinsGAA,NBPF9:uc009wig.2:exon3:c.116_116delinsGAA, Na Het;+AA 1258;32|58 Ref Hom;+AA 4072;7|98 N N - 1 144855532 144855532 T C snp intronic NBPF20 ENSG00000162825 NBPF member 20 chr1:148250249-148347506 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014] http://www.genecards.org/index.php?path=/Search/keyword/NBPF20 https://www.ncbi.nlm.nih.gov/omim/?term=614007 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20 rs1699755 0 0 0 1 0 0 intronic intronic intronic NBPF20,NBPF9,PDE4DIP LOC100288142,LOC653513,NBPF9,PDE4DIP ENSG00000178104 Na Na Na Na Na Na Het;T>C 149;6|6 Ref Hom;T>C 92;1|3 N N - 1 144992126 144992126 G A snp intronic NBPF20 ENSG00000162825 NBPF member 20 chr1:148250249-148347506 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014] http://www.genecards.org/index.php?path=/Search/keyword/NBPF20 https://www.ncbi.nlm.nih.gov/omim/?term=614007 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20 rs2590126 0 0 0 1 0 0 intronic intronic intronic NBPF20,NBPF9,PDE4DIP LOC100288142,LOC653513,NBPF9,PDE4DIP ENSG00000178104 Na Na Na Na Na Na Het;G>A 50;2|2 Ref Hom;G>A 63;0|2 N N - 1 144992142 144992142 T C snp intronic NBPF20 ENSG00000162825 NBPF member 20 chr1:148250249-148347506 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014] http://www.genecards.org/index.php?path=/Search/keyword/NBPF20 https://www.ncbi.nlm.nih.gov/omim/?term=614007 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20 rs1664015 0 0 0 1 0 0 intronic intronic intronic NBPF20,NBPF9,PDE4DIP LOC100288142,LOC653513,NBPF9,PDE4DIP ENSG00000178104 Na Na Na Na Na Na Het;T>C 50;2|2 Ref Hom;T>C 63;0|2 N N - 1 145017834 145017834 T C snp ncRNA_intronic BX647792 rs55689644 0 0 0 1 0 0 intronic ncRNA_intronic intronic NBPF20,NBPF9,PDE4DIP BX647792 ENSG00000178104 Na Na Na Na Na Na Het;T>C 33;1|2 Ref Hom;T>C 156;0|5 N N - 1 145209612 145209632 GCCCCGCCAACCGCCGGGGTT G indel intronic NBPF20 ENSG00000162825 NBPF member 20 chr1:148250249-148347506 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014] http://www.genecards.org/index.php?path=/Search/keyword/NBPF20 https://www.ncbi.nlm.nih.gov/omim/?term=614007 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF20&submit=Quick%0D%10810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF20 rs587749761 0.421925 0 0 1 0 0 intronic intronic intronic NBPF20,NBPF9,NOTCH2NL LOC100288142,NBPF10,NBPF9,NOTCH2NL ENSG00000213240,ENSG00000255168 Na Na Na Na Na Na Het;-CCCCGCCAACCGCCGGGGTT 423;1|11 Het;-CCCCGCCAACCGCCGGGGTT 235;1|7 Hom;-CCCCGCCAACCGCCGGGGTT 191;0|5 N N - 1 145296478 145296478 G T snp nonsynonymous SNV G400T D134Y polar,hydrophilic,charged(-) aromatic,polar,hydrophobic NBPF10 ENSG00000271425 NBPF member 10 chr1:145289772-145370303 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/NBPF10 https://www.ncbi.nlm.nih.gov/omim/?term=614000 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF10&submit=Quick%0D%20838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF10 rs6663523 0 0 0.5104 0.14 1 7 exonic exonic exonic NBPF10 NBPF10 ENSG00000163386 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV NBPF10:NM_001302371:exon3:c.G400T:p.D134Y,NBPF10:NM_001039703:exon3:c.G400T:p.D134Y, NBPF10:uc021ouk.1:exon8:c.G400T:p.D134Y,NBPF10:uc031poc.1:exon3:c.G400T:p.D134Y,NBPF10:uc021oul.2:exon3:c.G400T:p.D134Y, ENSG00000163386:ENST00000342960:exon3:c.G400T:p.D134Y,ENSG00000163386:ENST00000490598:exon3:c.G400T:p.D134Y, Het;G>T 3593;110|149 Het;G>T 1153;176|67 Hom;G>T 4589;9|175 N N - 1 146515813 146515813 A G snp ncRNA_intronic NBPF13P rs11240120 0.342851 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC728989(dist=1214),RNVU1-8(dist=40350) LOC728989(dist=1214),TRNA_His(dist=28960) ENSG00000227242 Na Na Na Na Na Na Het;A>G 41;3|2 Ref Hom;A>G 227;0|7 N N - 1 146515859 146515860 TA T indel ncRNA_intronic NBPF13P rs11332586 0.390974 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC728989(dist=1260),RNVU1-8(dist=40303) LOC728989(dist=1260),TRNA_His(dist=28913) ENSG00000227242 Na Na Na Na Na Na Het;-A 127;4|10 Ref Hom;-A 370;0|18 N N - 1 146516128 146516128 T C snp ncRNA_intronic NBPF13P rs4950483 0.342851 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC728989(dist=1529),RNVU1-8(dist=40035) LOC728989(dist=1529),TRNA_His(dist=28645) ENSG00000227242 Na Na Na Na Na Na Het;T>C 391;8|18 Ref Hom;T>C 223;0|9 N N - 1 146516199 146516199 G T snp ncRNA_intronic NBPF13P rs4950484 0.342851 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC728989(dist=1600),RNVU1-8(dist=39964) LOC728989(dist=1600),TRNA_His(dist=28574) ENSG00000227242 Na Na Na Na Na Na Het;G>T 34;2|2 Ref Hom;G>T 276;0|8 N N - 1 146571046 146571046 C T snp downstream NBPF13P rs6672322 0.701478 0 0 1 0 0 downstream downstream ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;C>T 2100;86|93 Ref Hom;C>T 4752;0|177 N N - 1 146571244 146571244 T C snp ncRNA_exonic NBPF13P rs10900314 0.69988 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;T>C 1973;78|79 Ref Hom;T>C 4669;2|162 N N - 1 146576094 146576094 C A snp ncRNA_intronic NBPF13P rs4950368 0.612021 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;C>A 249;6|8 Ref Hom;C>A 132;0|4 N N - 1 146576113 146576113 G A snp ncRNA_intronic NBPF13P rs6593734 0.317492 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;G>A 116;10|8 Ref Hom;G>A 152;0|4 N N - 1 146576120 146576120 G C snp ncRNA_intronic NBPF13P rs4950369 0.699081 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;G>C 327;8|8 Ref Hom;G>C 152;0|4 N N - 1 146576122 146576122 T C snp ncRNA_intronic NBPF13P rs4950370 0.699081 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;T>C 284;8|8 Ref Hom;T>C 152;0|4 N N - 1 146576133 146576133 C G snp ncRNA_intronic NBPF13P rs6593735 0.699681 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;C>G 197;9|6 Ref Hom;C>G 193;0|5 N N - 1 146576167 146576167 C T snp ncRNA_intronic NBPF13P rs6593736 0.318291 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;C>T 108;10|7 Ref Hom;C>T 127;0|4 N N - 1 146586688 146586688 G A snp upstream NBPF13P rs12095010 0.698682 0 0 1 0 0 upstream upstream ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;G>A 102;3|4 Ref Hom;G>A 156;0|5 N N - 1 146586703 146586703 G T snp upstream NBPF13P rs12095014 0.698083 0 0 1 0 0 upstream upstream ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;G>T 252;4|7 Ref Hom;G>T 197;0|5 N N - 1 146586705 146586705 A C snp upstream NBPF13P rs12060049 0.698083 0 0 1 0 0 upstream upstream ncRNA_intronic NBPF13P NBPF13P ENSG00000227242 Na Na Na Na Na Na Het;A>C 252;4|7 Ref Hom;A>C 197;0|5 N N - 1 146627405 146627405 C G snp UTR3 *3739G>C PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs1047140 0.716853 0 0 1 0 0 UTR3 UTR3 UTR3 PRKAB2(NM_005399:c.*3739G>C) PRKAB2(uc001epe.3:c.*3739G>C,uc010ozm.2:c.*3739G>C,uc010ozn.2:c.*3843G>C) ENSG00000131791(ENST00000254101:c.*3739G>C) Na Na Na Na Na Na Het;C>G 193;39|11 Ref Hom;C>G 2721;2|96 N N - 1 146628407 146628407 T C snp UTR3 *2737A>G PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs1442760 0.714457 0 0 1 0 0 UTR3 UTR3 UTR3 PRKAB2(NM_005399:c.*2737A>G) PRKAB2(uc001epe.3:c.*2737A>G,uc010ozm.2:c.*2737A>G,uc010ozn.2:c.*2841A>G) ENSG00000131791(ENST00000254101:c.*2737A>G) Na Na Na Na Na Na Het;T>C 862;48|36 Ref Hom;T>C 4078;0|141 N N - 1 146628635 146628635 A G snp UTR3 *2509T>C PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs1837983 0.716254 0 0 1 0 0 UTR3 UTR3 UTR3 PRKAB2(NM_005399:c.*2509T>C) PRKAB2(uc001epe.3:c.*2509T>C,uc010ozm.2:c.*2509T>C,uc010ozn.2:c.*2613T>C) ENSG00000131791(ENST00000254101:c.*2509T>C) Na Na Na Na Na Na Het;A>G 249;21|12 Ref Hom;A>G 1275;0|47 N N - 1 146628742 146628742 T G snp UTR3 *2402A>C PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs1837984 0.668131 0 0 1 0 0 UTR3 UTR3 UTR3 PRKAB2(NM_005399:c.*2402A>C) PRKAB2(uc001epe.3:c.*2402A>C,uc010ozm.2:c.*2402A>C,uc010ozn.2:c.*2506A>C) ENSG00000131791(ENST00000254101:c.*2402A>C) Na Na Na Na Na Na Het;T>G 405;28|22 Ref Hom;T>G 1722;0|61 N N - 1 146629400 146629401 GC G indel UTR3 *1744_*1743delinsC PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs3214715 0.600639 0 0 1 0 0 UTR3 UTR3 UTR3 PRKAB2(NM_005399:c.*1744_*1743delinsC) PRKAB2(uc001epe.3:c.*1744_*1743delinsC,uc010ozm.2:c.*1744_*1743delinsC,uc010ozn.2:c.*1848_*1847delinsC) ENSG00000131791(ENST00000254101:c.*1744_*1743delinsC) Na Na Na Na Na Na Het;-C 1097;34|36 Ref Hom;-C 5049;0|137 N N - 1 146629916 146629916 C T snp UTR3 *1228G>A PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs10900321 0.600639 0 0 1 0 0 UTR3 UTR3 UTR3 PRKAB2(NM_005399:c.*1228G>A) PRKAB2(uc001epe.3:c.*1228G>A,uc010ozm.2:c.*1228G>A,uc010ozn.2:c.*1332G>A) ENSG00000131791(ENST00000254101:c.*1228G>A) Na Na Na Na Na Na Het;C>T 1380;61|61 Ref Hom;C>T 7205;2|261 N N - 1 146633933 146633933 G A snp intronic PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs1036852 0.714457 0 0 1 0 0 intronic intronic intronic PRKAB2 PRKAB2 ENSG00000131791 Na Na Na Na Na Na Het;G>A 150;2|6 Ref Hom;G>A 981;0|31 N N - 1 146643555 146643555 A G snp intronic PRKAB2 Prkab2 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 chr1:146626685-146644129 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease ; Waist-Hip Ratio; diabetes, type 2; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2 Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006853;carnitine shuttle;TAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0016236;macroautophagy;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0042304;regulation of fatty acid biosynthetic process;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031588;nucleotide-activated protein kinase complex;IDA GO:0004679;AMP-activated protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAB2 https://www.uniprot.org/uniprot/O43741 https://www.ncbi.nlm.nih.gov/omim/?term=602741 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAB2&submit=Quick%0D%6590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAB2 rs1348316 0.669529 0.4903 0.5236 1 0 0 intronic intronic intronic PRKAB2 PRKAB2 ENSG00000131791 Na Na Na Na Na Na Het;A>G 691;29|29 Ref Hom;A>G 1351;1|53 N N - 1 146651530 146651531 TA T indel downstream PDIA3P1 rs71678783 0.639577 0 0 1 0 0 downstream downstream ncRNA_intronic PDIA3P1 PDIA3P ENSG00000237188,ENSG00000273071 Na Na Na Na Na Na Het;-A 705;57|53 Ref Hom;-A 1872;5|89 N N - 1 147083744 147083744 C T snp intronic BCL9 Bcl9 ENSG00000116128 B-cell CLL/lymphoma 9 chr1:147013182-147098017 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] Hip; Blood Flow Velocity; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Type 2 Diabetes| edema | rosiglitazone Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis. Deactivation of the beta-catenin transactivating complex GO:0014908;myotube differentiation involved in skeletal muscle regeneration;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;IDA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCL9 https://www.uniprot.org/uniprot/O00512 https://www.ncbi.nlm.nih.gov/omim/?term=602597 http://www.informatics.jax.org/searchtool/Search.do?query=BCL9&submit=Quick%0D%4705ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL9 rs677977 0.305911 0.2871 0 1 0 0 intronic intronic intronic BCL9 BCL9 ENSG00000116128 Na Na Na Na Na Na Het;C>T 700;41|34 Ref Hom;C>T 2228;1|84 N N - 1 147760815 147760815 G C snp ncRNA_exonic AK023809 rs2999714 0.906949 0 0 1 0 0 intronic ncRNA_exonic ncRNA_intronic NBPF8 AK023809 ENSG00000228626 Na Na Na Na Na Na Het;G>C 168;2|5 Ref Hom;G>C 166;0|7 N N - 1 147760966 147760966 G C snp ncRNA_exonic AK023809 rs4950522 0.790535 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic NBPF8 AK023809 ENSG00000228626 Na Na Na Na Na Na Het;G>C 79;7|5 Ref Hom;G>C 368;0|16 N N - 1 147779090 147779090 A G snp intronic NBPF8 rs1832116 0.536941 0 0 1 0 0 intronic intronic intergenic NBPF8 NBPF8 ENSG00000238107(dist=9427),ENSG00000235988(dist=10709) Na Na Na Na Na Na Het;A>G 439;12|18 Het;A>G 180;10|7 Hom;A>G 562;0|19 N N - 1 147786724 147786724 A G snp intronic NBPF8 rs2992453 0.640575 0 0 1 0 0 intronic intronic intergenic NBPF8 NBPF8 ENSG00000238107(dist=17061),ENSG00000235988(dist=3075) Na Na Na Na Na Na Het;A>G 232;3|10 Het;A>G 237;4|10 Hom;A>G 169;0|6 N N - 1 147787038 147787038 A G snp intronic NBPF8 rs6693699 0.535144 0 0 1 0 0 intronic intronic intergenic NBPF8 NBPF8 ENSG00000238107(dist=17375),ENSG00000235988(dist=2761) Na Na Na Na Na Na Het;A>G 308;8|12 Het;A>G 392;14|18 Hom;A>G 965;0|37 N N - 1 147787062 147787062 T C snp intronic NBPF8 rs6687978 0.535144 0 0 1 0 0 intronic intronic intergenic NBPF8 NBPF8 ENSG00000238107(dist=17399),ENSG00000235988(dist=2737) Na Na Na Na Na Na Het;T>C 471;9|20 Het;T>C 382;16|18 Hom;T>C 966;0|39 N N - 1 147787536 147787536 G A snp intronic NBPF8 rs6702576 0.535144 0 0 1 0 0 intronic intronic intergenic NBPF8 NBPF8 ENSG00000238107(dist=17873),ENSG00000235988(dist=2263) Na Na Na Na Na Na Het;G>A 119;1|5 Het;G>A 141;8|7 Hom;G>A 124;0|5 N N - 1 147789875 147789875 C T snp ncRNA_exonic AC245100.5 rs558833 0.859625 0 0 1 0 0 intronic intronic ncRNA_exonic NBPF8 NBPF8 ENSG00000235988 Na Na Na Na Na Na Het;C>T 381;11|15 Het;C>T 277;12|15 Hom;C>T 728;0|28 N N - 1 147789920 147789920 G A snp ncRNA_exonic AC245100.5 rs558062 0.854832 0 0 1 0 0 intronic intronic ncRNA_exonic NBPF8 NBPF8 ENSG00000235988 Na Na Na Na Na Na Het;G>A 179;9|8 Het;G>A 200;9|11 Hom;G>A 238;0|8 N N - 1 147790021 147790021 G A snp ncRNA_exonic AC245100.5 rs557110 0.8127 0 0 1 0 0 intronic intronic ncRNA_exonic NBPF8 NBPF8 ENSG00000235988 Na Na Na Na Na Na Het;G>A 287;7|8 Het;G>A 281;9|8 Hom;G>A 242;0|6 N N - 1 147790031 147790031 G A snp ncRNA_exonic AC245100.5 rs557088 0.858027 0 0 1 0 0 intronic intronic ncRNA_exonic NBPF8 NBPF8 ENSG00000235988 Na Na Na Na Na Na Het;G>A 327;5|9 Het;G>A 281;9|8 Hom;G>A 267;0|7 N N - 1 149606043 149606043 T C snp ncRNA_exonic RNVU1-20 rs78395210 0 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic RNVU1-20 LINC00623,LINC00869 ENSG00000202496 Na Na Na Na Na Na Het;T>C 3182;42|84 Het;T>C 2471;42|62 Hom;T>C 3609;0|86 N N - 1 149606094 149606094 T C snp ncRNA_intronic LINC00623 rs145016637 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00623,LINC00869,LOC103091866 LINC00623,LINC00869 ENSG00000232151,ENSG00000269501 Na Na Na Na Na Na Het;T>C 1451;34|67 Het;T>C 1342;41|65 Hom;T>C 1943;0|77 N N - 1 149606129 149606129 C T snp ncRNA_intronic LINC00623 rs141958634 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00623,LINC00869,LOC103091866 LINC00623,LINC00869 ENSG00000232151,ENSG00000269501 Na Na Na Na Na Na Het;C>T 758;20|34 Het;C>T 956;20|41 Hom;C>T 1271;0|50 N N - 1 149647518 149647518 A T snp ncRNA_exonic LINC00869 rs3795676 0.454673 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00869 AB007962 ENSG00000239903 Na Na Na Na Na Na Het;A>T 1578;76|75 Het;A>T 1118;63|57 Hom;A>T 3477;0|135 N N - 1 149719221 149719221 G C snp ncRNA_exonic AC243772.3 rs633047 0 0 0 1 0 0 intergenic upstream ncRNA_exonic LOC103091866(dist=46238),HIST2H2BF(dist=35024) TRNA_Glu ENSG00000234232 Na Na Na Na Na Na Het;G>C 1330;53|64 Het;G>C 735;81|43 Hom;G>C 1811;3|78 N N - 1 150203082 150203082 C CT indel intronic ANP32E Anp32e ENSG00000143401 acidic nuclear phosphoprotein 32 family member E chr1:150190717-150208504 Mice homozygous for a gene trapped allele exhibit mild neurological deficits. Mice homozygous for a knock-out allele are phenotypically normal. GO:0016569;covalent chromatin modification;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043486;histone exchange;IDA GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0019212;phosphatase inhibitor activity;IEA|GO:0042393;histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANP32E https://www.uniprot.org/uniprot/Q9BTT0 https://www.ncbi.nlm.nih.gov/omim/?term=609611 http://www.informatics.jax.org/searchtool/Search.do?query=ANP32E&submit=Quick%0D%8436ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANP32E rs11412482 0.360024 0 0 1 0 0 intronic intronic intronic ANP32E ANP32E ENSG00000143401 Na Na Na Na Na Na Het;+T 84;3|8 Ref Hom;+T 240;0|12 N N - 1 150528090 150528090 G GACAC indel ncRNA_intronic AL356356.1 rs10687239 0 0.6075 0.6596 1 0 0 intronic intronic ncRNA_intronic ADAMTSL4 ADAMTSL4 ENSG00000237781 Na Na Na Na Na Na Het;+ACAC 654;33|19 Het;+ACAC 1304;22|34 Hom;+ACAC 2147;0|50 N N - 1 150528118 150528118 T TACAC indel ncRNA_intronic AL356356.1 rs10687240 0.689097 0 0 1 0 0 intronic intronic ncRNA_intronic ADAMTSL4 ADAMTSL4 ENSG00000237781 Na Na Na Na Na Na Het;+ACAC 206;17|7 Het;+ACAC 647;10|17 Hom;+ACAC 938;0|23 N N - 1 150528175 150528177 GCA G indel ncRNA_intronic AL356356.1 rs35233292 0.714657 0 0 1 0 0 intronic intronic ncRNA_intronic ADAMTSL4 ADAMTSL4 ENSG00000237781 Na Na Na Na Na Na Het;-CA 78;3|3 Het;-CA 200;5|6 Hom;-CA 133;0|4 N N - 1 150531380 150531380 T C snp intronic ADAMTSL4 Adamtsl4 ENSG00000143382 ADAMTS like 4 chr1:150521884-150533413 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014] ECTOPIA LENTIS ET PUPILLAE O-glycosylation of TSR domain-containing proteins GO:0002064;epithelial cell development;IEA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0036066;protein O-linked fucosylation;TAS|GO:0043065;positive regulation of apoptotic process;IDA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0002020;protease binding;IPI|GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL4 https://www.uniprot.org/uniprot/Q6UY14 https://hpo.jax.org/app/browse/search?q=ADAMTSL4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610113 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL4&submit=Quick%0D%8430ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL4 rs11204664 0.524161 0 0 1 0 0 intronic intronic intronic ADAMTSL4 ADAMTSL4 ENSG00000143382 Na Na Na Na Na Na Het;T>C 453;22|18 Het;T>C 181;8|8 Hom;T>C 364;0|11 N N - 1 151263782 151263782 A G snp UTR3 *97A>G ZNF687 Zfp687 ENSG00000143373 zinc finger protein 687 chr1:151254094-151264656 This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF687 https://www.uniprot.org/uniprot/Q8N1G0 https://hpo.jax.org/app/browse/search?q=ZNF687&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610568 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF687&submit=Quick%0D%8425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF687 rs10788803 0.570487 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF687(NM_001304764:c.*97A>G,NM_020832:c.*97A>G,NM_001304763:c.*97A>G) ZNF687(uc001exq.3:c.*97A>G,uc009wmo.3:c.*97A>G,uc009wmp.3:c.*560A>G) ENSG00000143373(ENST00000336715:c.*97A>G,ENST00000449313:c.*1113A>G,ENST00000324048:c.*97A>G,ENST00000368879:c.*560A>G,ENST00000426871:c.*560A>G,ENST00000436614:c.*435A>G) Na Na Na Na Na Na Het;A>G 677;29|25 Het;A>G 460;22|15 Hom;A>G 1258;0|35 N N - 1 151288172 151288172 G A snp synonymous SNV C786T D262D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PI4KB Pi4kb ENSG00000143393 phosphatidylinositol 4-kinase beta chr1:151264273-151300191 Magnesium; Alzheimer's disease Synthesis of PIPs at the Golgi membrane GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005768;endosome;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030867;rough endoplasmic reticulum membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PI4KB https://www.uniprot.org/uniprot/Q9UBF8 https://www.ncbi.nlm.nih.gov/omim/?term=602758 http://www.informatics.jax.org/searchtool/Search.do?query=PI4KB&submit=Quick%0D%8434ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KB rs1056847 0.509585 0.5454 0.5932 1 0 0 exonic exonic exonic PI4KB PI4KB ENSG00000143393 synonymous SNV synonymous SNV synonymous SNV PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D, PI4KB:uc001exu.3:exon2:c.C786T:p.D262D,PI4KB:uc001ext.3:exon2:c.C786T:p.D262D,PI4KB:uc001exr.3:exon3:c.C822T:p.D274D,PI4KB:uc001exs.3:exon4:c.C786T:p.D262D, ENSG00000143393:ENST00000368874:exon2:c.C786T:p.D262D,ENSG00000143393:ENST00000368872:exon4:c.C786T:p.D262D,ENSG00000143393:ENST00000368875:exon3:c.C822T:p.D274D,ENSG00000143393:ENST00000368873:exon2:c.C786T:p.D262D,ENSG00000143393:ENST00000271657:exon2:c.C822T:p.D274D,ENSG00000143393:ENST00000438243:exon3:c.C786T:p.D262D, Het;G>A 1281;55|55 Het;G>A 1087;54|48 Hom;G>A 2611;0|99 N N - 1 151313774 151313774 A G snp UTR3 *888T>C RFX5 Rfx5 ENSG00000143390 regulatory factor X5 chr1:151313116-151319833 A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008] Macular Degeneration Homozygous null mice have absent or decreased expression of MHC-II complexes on antigen presenting cells, which leads to reduced numbers of CD4+ thymocytes and T cells. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA GO:0005634;nucleus;TAS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RFX5 https://www.uniprot.org/uniprot/P48382 https://hpo.jax.org/app/browse/search?q=RFX5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601863 http://www.informatics.jax.org/searchtool/Search.do?query=RFX5&submit=Quick%0D%8433ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFX5 rs7552906 0.627995 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic RFX5(NM_000449:c.*888T>C,NM_001025603:c.*888T>C) RFX5(uc001exv.1:c.*888T>C,uc001exw.1:c.*888T>C,uc010pcx.1:c.*888T>C) ENSG00000224645 Na Na Na Na Na Na Het;A>G 177;12|7 Het;A>G 151;10|8 Hom;A>G 595;0|23 N N - 1 151337788 151337788 A G snp intronic SELENBP1 Selenbp2 ENSG00000143416 selenium binding protein 1 chr1:151336778-151345209 This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] schizophrenia; ovarian cancer Mice homozygous for a knock-out allele exhibit sex-specific changes in organ weights. Mice homozygous for a different allele lack methanethiol oxidase activity and exhibit an increase in dimethylsulfide and dimethyl-sulfone serum levels. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0001650;fibrillar center;IDA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008430;selenium binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SELENBP1 https://www.uniprot.org/uniprot/Q13228 https://hpo.jax.org/app/browse/search?q=SELENBP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604188 http://www.informatics.jax.org/searchtool/Search.do?query=SELENBP1&submit=Quick%0D%8439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SELENBP1 rs10788804 0.508387 0.5261 0.5995 1 0 0 intronic intronic intronic SELENBP1 SELENBP1 ENSG00000143416 Na Na Na Na Na Na Het;A>G 824;25|31 Het;A>G 608;15|29 Hom;A>G 965;0|35 N N - 1 151372138 151372138 G A snp synonymous SNV G75A P25P hydrophobic,neutral hydrophobic,neutral PSMB4 Psmb4 ENSG00000159377 proteasome subunit beta 4 chr1:151372010-151374420 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; depression Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0002862;negative regulation of inflammatory response to antigenic stimulus;IEA|GO:0006508;proteolysis;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;ISS|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;IEA|GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMB4 https://hpo.jax.org/app/browse/search?q=PSMB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602177 http://www.informatics.jax.org/searchtool/Search.do?query=PSMB4&submit=Quick%0D%10330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMB4 rs7172 0.493011 0.6741 0.6746 1 0 0 exonic exonic exonic PSMB4 PSMB4 ENSG00000159377 synonymous SNV synonymous SNV synonymous SNV PSMB4:NM_002796:exon1:c.G75A:p.P25P, PSMB4:uc010pda.2:exon1:c.G75A:p.P25P,PSMB4:uc001eyc.1:exon1:c.G75A:p.P25P, ENSG00000159377:ENST00000290541:exon1:c.G75A:p.P25P, Het;G>A 1575;65|70 Het;G>A 1408;81|73 Hom;G>A 4493;0|172 N N - 1 151381320 151381321 GA G indel intronic POGZ Pogz ENSG00000143442 pogo transposable element derived with ZNF domain chr1:151375200-151431941 The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Tobacco Use Disorder Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0051301;cell division;IEA|GO:0051382;kinetochore assembly;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POGZ https://www.uniprot.org/uniprot/Q7Z3K3 https://hpo.jax.org/app/browse/search?q=POGZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614787 http://www.informatics.jax.org/searchtool/Search.do?query=POGZ&submit=Quick%0D%8445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POGZ rs3831142 0.492013 0.6729 0.6753 1 0 0 intronic intronic intronic POGZ POGZ ENSG00000143442 Na Na Na Na Na Na Het;-A 801;61|41 Het;-A 855;66|44 Hom;-A 2302;0|84 N N - 1 151384711 151384711 A G snp intronic POGZ Pogz ENSG00000143442 pogo transposable element derived with ZNF domain chr1:151375200-151431941 The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Tobacco Use Disorder Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0051301;cell division;IEA|GO:0051382;kinetochore assembly;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POGZ https://www.uniprot.org/uniprot/Q7Z3K3 https://hpo.jax.org/app/browse/search?q=POGZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614787 http://www.informatics.jax.org/searchtool/Search.do?query=POGZ&submit=Quick%0D%8445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POGZ rs1887545 0.784145 0 0 1 0 0 intronic intronic intronic POGZ POGZ ENSG00000143442 Na Na Na Na Na Na Het;A>G 209;21|9 Het;A>G 144;9|7 Hom;A>G 524;2|21 N N - 1 151384733 151384733 G A snp intronic POGZ Pogz ENSG00000143442 pogo transposable element derived with ZNF domain chr1:151375200-151431941 The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Tobacco Use Disorder Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0051301;cell division;IEA|GO:0051382;kinetochore assembly;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POGZ https://www.uniprot.org/uniprot/Q7Z3K3 https://hpo.jax.org/app/browse/search?q=POGZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614787 http://www.informatics.jax.org/searchtool/Search.do?query=POGZ&submit=Quick%0D%8445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POGZ rs3748550 0.784145 0.8252 0.8001 1 0 0 intronic intronic intronic POGZ POGZ ENSG00000143442 Na Na Na Na Na Na Het;G>A 324;32|15 Het;G>A 276;12|12 Hom;G>A 749;2|30 N N - 1 151395782 151395782 T C snp intronic POGZ Pogz ENSG00000143442 pogo transposable element derived with ZNF domain chr1:151375200-151431941 The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Tobacco Use Disorder Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0051301;cell division;IEA|GO:0051382;kinetochore assembly;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POGZ https://www.uniprot.org/uniprot/Q7Z3K3 https://hpo.jax.org/app/browse/search?q=POGZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614787 http://www.informatics.jax.org/searchtool/Search.do?query=POGZ&submit=Quick%0D%8445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POGZ rs2274533 0.552516 0 0 1 0 0 intronic intronic intronic POGZ POGZ ENSG00000143442 Na Na Na Na Na Na Het;T>C 159;12|6 Het;T>C 112;5|4 Hom;T>C 379;0|10 N N - 1 151400942 151400942 A C snp intronic POGZ Pogz ENSG00000143442 pogo transposable element derived with ZNF domain chr1:151375200-151431941 The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Tobacco Use Disorder Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0051301;cell division;IEA|GO:0051382;kinetochore assembly;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POGZ https://www.uniprot.org/uniprot/Q7Z3K3 https://hpo.jax.org/app/browse/search?q=POGZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614787 http://www.informatics.jax.org/searchtool/Search.do?query=POGZ&submit=Quick%0D%8445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POGZ rs11204811 0.503195 0 0 1 0 0 intronic intronic intronic POGZ POGZ ENSG00000143442 Na Na Na Na Na Na Het;A>C 975;37|35 Het;A>C 601;18|23 Hom;A>C 1534;1|51 N N - 1 151402045 151402045 A G snp intronic POGZ Pogz ENSG00000143442 pogo transposable element derived with ZNF domain chr1:151375200-151431941 The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] Tobacco Use Disorder Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0051301;cell division;IEA|GO:0051382;kinetochore assembly;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POGZ https://www.uniprot.org/uniprot/Q7Z3K3 https://hpo.jax.org/app/browse/search?q=POGZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614787 http://www.informatics.jax.org/searchtool/Search.do?query=POGZ&submit=Quick%0D%8445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POGZ rs6587577 0.758986 0.8019 0.7931 1 0 0 intronic intronic intronic POGZ POGZ ENSG00000143442 Na Na Na Na Na Na Het;A>G 469;24|23 Het;A>G 256;26|15 Hom;A>G 1186;0|40 N N - 1 152084175 152084175 T TTGCTGCTCGCGCCTCTCC indel nonframeshift substitution 1518_1518delinsGGAGAGGCGCGAGCAGCAA TCHH ENSG00000159450 trichohyalin chr1:152078793-152086556 Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009] hair morphology; straight hair Formation of the cornified envelope GO:0008150;biological_process;ND|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS GO:0005509;calcium ion binding;TAS|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCHH https://hpo.jax.org/app/browse/search?q=TCHH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190370 http://www.informatics.jax.org/searchtool/Search.do?query=TCHH&submit=Quick%0D%10340ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCHH rs752560318 0 0 0.2054 1 0 0 exonic exonic exonic TCHH TCHH ENSG00000159450 nonframeshift substitution nonframeshift substitution nonframeshift substitution TCHH:NM_007113:exon3:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA, TCHH:uc009wne.1:exon3:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA,TCHH:uc001ezp.3:exon3:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA, ENSG00000159450:ENST00000368804:exon2:c.1518_1518delinsGGAGAGGCGCGAGCAGCAA, Het;+TGCTGCTCGCGCCTCTCC 429;12|10 Ref Hom;+TGCTGCTCGCGCCTCTCC 804;0|17 N N - 1 152129065 152129101 GTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA G indel nonframeshift substitution 474_510C RPTN Rptn ENSG00000215853 repetin chr1:152126071-152131704 HIV Infections|[X]Human immunodeficiency virus disease Formation of the cornified envelope GO:0070268;cornification;TAS GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005829;cytosol;TAS GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPTN https://www.ncbi.nlm.nih.gov/omim/?term=613259 http://www.informatics.jax.org/searchtool/Search.do?query=RPTN&submit=Quick%0D%18362ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPTN rs765213852 0 0 0.2423 1 0 0 exonic exonic exonic RPTN RPTN ENSG00000215853 nonframeshift substitution nonframeshift substitution nonframeshift substitution RPTN:NM_001122965:exon3:c.474_510C, RPTN:uc001ezs.1:exon3:c.474_510C, ENSG00000215853:ENST00000316073:exon3:c.474_510C, Het;-TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA 6161;261|173 Ref Hom;-TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA 13879;6|334 N N - 1 152185750 152185750 G A snp synonymous SNV C8355T Y2785Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic HRNR ENSG00000197915 hornerin chr1:152184558-152196669 Dermatitis, Atopic| Neutrophil degranulation GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HRNR https://www.ncbi.nlm.nih.gov/omim/?term=616293 http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR rs12729662 0.342652 0 0.2651 1 0 0 exonic exonic exonic HRNR HRNR ENSG00000197915 synonymous SNV synonymous SNV synonymous SNV HRNR:NM_001009931:exon3:c.C8355T:p.Y2785Y, HRNR:uc001ezt.2:exon3:c.C8355T:p.Y2785Y, ENSG00000197915:ENST00000368801:exon3:c.C8355T:p.Y2785Y, Het;G>A 746;20|32 Ref Hom;G>A 1803;0|71 N N - 1 152195579 152195579 G A snp ncRNA_intronic FLG-AS1 rs74127901 0.330671 0.1432 0.2552 1 0 0 intronic intronic ncRNA_intronic HRNR HRNR ENSG00000237975 Na Na Na Na Na Na Het;G>A 639;25|28 Ref Hom;G>A 2069;0|75 N N - 1 152277168 152277168 A G snp synonymous SNV T10194C S3398S polar,hydrophilic,neutral polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs3091276 0.473642 0.2627 0.2896 1 0 0 exonic exonic exonic FLG FLG ENSG00000143631 synonymous SNV synonymous SNV synonymous SNV FLG:NM_002016:exon3:c.T10194C:p.S3398S, FLG:uc001ezu.1:exon3:c.T10194C:p.S3398S, ENSG00000143631:ENST00000368799:exon3:c.T10194C:p.S3398S, Het;A>G 46;7|3 Ref Hom;A>G 342;0|13 N N - 1 152277396 152277396 T C snp synonymous SNV A9966G Q3322Q polar,hydrophilic,neutral polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs6681433 0.341054 0.1560 0.2611 1 0 0 exonic exonic exonic FLG FLG ENSG00000143631 synonymous SNV synonymous SNV synonymous SNV FLG:NM_002016:exon3:c.A9966G:p.Q3322Q, FLG:uc001ezu.1:exon3:c.A9966G:p.Q3322Q, ENSG00000143631:ENST00000368799:exon3:c.A9966G:p.Q3322Q, Het;T>C 75;7|5 Ref Hom;T>C 192;0|7 N N - 1 152278689 152278689 C A snp synonymous SNV G8673T V2891V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs57672167 0.396366 0.1802 0.2692 1 0 0 exonic exonic exonic FLG FLG ENSG00000143631 synonymous SNV synonymous SNV synonymous SNV FLG:NM_002016:exon3:c.G8673T:p.V2891V, FLG:uc001ezu.1:exon3:c.G8673T:p.V2891V, ENSG00000143631:ENST00000368799:exon3:c.G8673T:p.V2891V, Het;C>A 2061;19|80 Ref Hom;C>A 4723;0|154 N N - 1 152279729 152279729 C T snp nonsynonymous SNV G7633A G2545R aliphatic,neutral polar,hydrophilic,charged(+) FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs3126072 0.47484 0.2812 0.2974 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.G7633A:p.G2545R, FLG:uc001ezu.1:exon3:c.G7633A:p.G2545R, ENSG00000143631:ENST00000368799:exon3:c.G7633A:p.G2545R, Het;C>T 3525;128|160 Ref Hom;C>T 6278;0|236 N N - 1 152279841 152279841 G C snp nonsynonymous SNV C7521G H2507Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs3126074 0.46226 0.2698 0.2943 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.C7521G:p.H2507Q, FLG:uc001ezu.1:exon3:c.C7521G:p.H2507Q, ENSG00000143631:ENST00000368799:exon3:c.C7521G:p.H2507Q, Het;G>C 1354;76|59 Ref Hom;G>C 2160;0|73 N N - 1 152279920 152279920 A G snp nonsynonymous SNV T7442C L2481S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs55650366 0.342452 0.1576 0.2608 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.T7442C:p.L2481S, FLG:uc001ezu.1:exon3:c.T7442C:p.L2481S, ENSG00000143631:ENST00000368799:exon3:c.T7442C:p.L2481S, Het;A>G 877;46|33 Ref Hom;A>G 1423;0|47 N N - 1 152280032 152280032 T C snp nonsynonymous SNV A7330G K2444E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs71625200 0.343051 0.1543 0.2608 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.A7330G:p.K2444E, FLG:uc001ezu.1:exon3:c.A7330G:p.K2444E, ENSG00000143631:ENST00000368799:exon3:c.A7330G:p.K2444E, Het;T>C 650;38|31 Ref Hom;T>C 994;0|35 N N - 1 152280170 152280170 C G snp nonsynonymous SNV G7192C E2398Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs71625201 0.330471 0.1545 0.2585 0.17 2 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.G7192C:p.E2398Q, FLG:uc001ezu.1:exon3:c.G7192C:p.E2398Q, ENSG00000143631:ENST00000368799:exon3:c.G7192C:p.E2398Q, Het;C>G 135;5|6 Ref Hom;C>G 193;0|7 N N - 1 152280782 152280782 A G snp nonsynonymous SNV T6580C Y2194H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs2184953 0.539736 0 0.3176 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.T6580C:p.Y2194H, FLG:uc001ezu.1:exon3:c.T6580C:p.Y2194H, ENSG00000143631:ENST00000368799:exon3:c.T6580C:p.Y2194H, Het;A>G 3090;55|79 Ref Hom;A>G 6140;2|147 N N - 1 152280864 152280864 A G snp synonymous SNV T6498C S2166S polar,hydrophilic,neutral polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs2184954 0.463658 0.2698 0.2946 1 0 0 exonic exonic exonic FLG FLG ENSG00000143631 synonymous SNV synonymous SNV synonymous SNV FLG:NM_002016:exon3:c.T6498C:p.S2166S, FLG:uc001ezu.1:exon3:c.T6498C:p.S2166S, ENSG00000143631:ENST00000368799:exon3:c.T6498C:p.S2166S, Het;A>G 1134;34|42 Ref Hom;A>G 1875;0|62 N N - 1 152281479 152281479 G T snp nonsynonymous SNV C5883A H1961Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs3126079 0.538139 0.3469 0.3173 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.C5883A:p.H1961Q, FLG:uc001ezu.1:exon3:c.C5883A:p.H1961Q, ENSG00000143631:ENST00000368799:exon3:c.C5883A:p.H1961Q, Het;G>T 577;15|19 Ref Hom;G>T 438;0|14 N N - 1 152283236 152283236 T C snp nonsynonymous SNV A4126G R1376G polar,hydrophilic,charged(+) aliphatic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs11581433 0.343051 0.1571 0.2614 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.A4126G:p.R1376G, FLG:uc001ezu.1:exon3:c.A4126G:p.R1376G, ENSG00000143631:ENST00000368799:exon3:c.A4126G:p.R1376G, Het;T>C 168;8|7 Ref Hom;T>C 403;0|15 N N - 1 152283862 152283862 G C snp nonsynonymous SNV C3500G A1167G aliphatic,hydrophobic,neutral aliphatic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs58001094 0.534145 0.3102 0.3040 0.17 2 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.C3500G:p.A1167G, FLG:uc001ezu.1:exon3:c.C3500G:p.A1167G, ENSG00000143631:ENST00000368799:exon3:c.C3500G:p.A1167G, Het;G>C 803;53|35 Ref Hom;G>C 1229;4|46 N N - 1 152283975 152283975 A G snp synonymous SNV T3387C S1129S polar,hydrophilic,neutral polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs66831674 0.463059 0.2636 0.2943 1 0 0 exonic exonic exonic FLG FLG ENSG00000143631 synonymous SNV synonymous SNV synonymous SNV FLG:NM_002016:exon3:c.T3387C:p.S1129S, FLG:uc001ezu.1:exon3:c.T3387C:p.S1129S, ENSG00000143631:ENST00000368799:exon3:c.T3387C:p.S1129S, Het;A>G 401;18|18 Ref Hom;A>G 508;0|19 N N - 1 152285099 152285099 C T snp nonsynonymous SNV G2263A E755K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs74129461 0.327676 0.1392 0.2559 0.25 3 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.G2263A:p.E755K, FLG:uc001ezu.1:exon3:c.G2263A:p.E755K, ENSG00000143631:ENST00000368799:exon3:c.G2263A:p.E755K, Het;C>T 218;15|9 Ref Hom;C>T 654;0|22 N N - 1 152285930 152285930 G A snp nonsynonymous SNV C1432T P478S hydrophobic,neutral polar,hydrophilic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs11584340 0.344649 0.1583 0.2613 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.C1432T:p.P478S, FLG:uc001ezu.1:exon3:c.C1432T:p.P478S, ENSG00000143631:ENST00000368799:exon3:c.C1432T:p.P478S, Het;G>A 426;4|16 Ref Hom;G>A 456;0|17 N N - 1 152286002 152286002 T C snp nonsynonymous SNV A1360G T454A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs2011331 0.464058 0.2706 0.2949 0.08 1 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.A1360G:p.T454A, FLG:uc001ezu.1:exon3:c.A1360G:p.T454A, ENSG00000143631:ENST00000368799:exon3:c.A1360G:p.T454A, Het;T>C 343;22|14 Ref Hom;T>C 830;0|24 N N - 1 152286367 152286367 C A snp nonsynonymous SNV G995T G332V aliphatic,neutral aliphatic,hydrophobic,neutral FLG ENSG00000143631 filaggrin chr1:152274651-152297679 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] asthma eczema; asthma; Dermatitis, Contact|Hand Dermatoses; Arthritis, Rheumatoid|Rheumatoid Arthritis; Ichthyosis; Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds; longevity; Exploratory Behavior; Asthma|Eczema|Food Hypersensitivity; Dermatitis, Allergic Contact|Hand Dermatoses; Dermatitis, Allergic Contact; Asthma|Eczema|; dermatitis and eczema; dermatitis and eczema ichthyosis vulgaris; Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal; Eczema; Ichthyosis Vulgaris; Hearing Loss; Dermatitis, Atopic|; psoriasis; eczema; Dermatitis, Irritant|Dermatitis, Occupational|; Dermatitis, Atopic|Eczema allergic; Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; null; humoral responses to early food allergens in children; Asthma|Dermatitis, Atopic|; Hypersensitivity; inflammatory bowel disease ; Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal; atopic dermatitis; Asthma; Dermatitis, Atopic|Kaposi Varicelliform Eruption; Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses; Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris; Asthma|Eczema|Rhinitis, Allergic, Seasonal; Body Weight; skin condition; Dermatitis, Atopic; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Dermatitis, Atopic|Ichthyosis Vulgaris; Psoriasis; Body Mass Index Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. Formation of the cornified envelope GO:0007275;multicellular organism development;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;TAS|GO:0061436;establishment of skin barrier;IEP|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;NAS|GO:0036457;keratohyalin granule;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005198;structural molecule activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030280;structural constituent of epidermis;IDA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG https://www.uniprot.org/uniprot/P20930 https://hpo.jax.org/app/browse/search?q=FLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135940 http://www.informatics.jax.org/searchtool/Search.do?query=FLG&submit=Quick%0D%8490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG rs41267154 0.340655 0.1558 0.2603 0.42 5 12 exonic exonic exonic FLG FLG ENSG00000143631 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FLG:NM_002016:exon3:c.G995T:p.G332V, FLG:uc001ezu.1:exon3:c.G995T:p.G332V, ENSG00000143631:ENST00000368799:exon3:c.G995T:p.G332V, Het;C>A 462;18|17 Ref Hom;C>A 893;0|31 N N - 1 152287341 152287342 CT C indel ncRNA_exonic FLG-AS1 rs34224823 0.350839 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FLG-AS1 AK056431 ENSG00000237975 Na Na Na Na Na Na Het;-T 633;39|37 Ref Hom;-T 1876;12|97 N N - 1 152328411 152328411 A G snp synonymous SNV T1851C S617S polar,hydrophilic,neutral polar,hydrophilic,neutral FLG2 ENSG00000143520 filaggrin family member 2 chr1:152321211-152332482 The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa. [provided by RefSeq, Dec 2015] Dermatitis, Atopic|; Hemoglobins Neutrophil degranulation GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS GO:0005198;structural molecule activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FLG2 https://www.uniprot.org/uniprot/Q5D862 https://hpo.jax.org/app/browse/search?q=FLG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616284 http://www.informatics.jax.org/searchtool/Search.do?query=FLG2&submit=Quick%0D%8465ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLG2 rs6679449 0.483227 0.3322 0.2941 1 0 0 exonic exonic exonic FLG2 FLG2 ENSG00000143520 synonymous SNV synonymous SNV synonymous SNV FLG2:NM_001014342:exon3:c.T1851C:p.S617S, FLG2:uc001ezw.4:exon3:c.T1851C:p.S617S, ENSG00000143520:ENST00000388718:exon3:c.T1851C:p.S617S, Het;A>G 219;10|10 Ref Hom;A>G 353;0|10 N N - 1 152331533 152331533 T G snp ncRNA_intronic AK056431 rs2275264 0.48123 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FLG-AS1 AK056431 ENSG00000237975 Na Na Na Na Na Na Het;T>G 41;3|2 Ref Hom;T>G 151;0|5 N N - 1 152538358 152538358 G C snp UTR3 *48C>G LCE3E ENSG00000185966 late cornified envelope 3E chr1:152538130-152539248 Benzodiazepines; Psoriasis Formation of the cornified envelope GO:0008544;epidermis development;IEA|GO:0018149;peptide cross-linking;IBA|GO:0030216;keratinocyte differentiation;IBA|GO:0031424;keratinization;IEA GO:0001533;cornified envelope;IBA|GO:0005737;cytoplasm;IBA GO:0005198;structural molecule activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LCE3E https://www.ncbi.nlm.nih.gov/omim/?term=612617 http://www.informatics.jax.org/searchtool/Search.do?query=LCE3E&submit=Quick%0D%15537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCE3E rs17659359 0.258586 0.2240 0.2650 1 0 0 UTR3 UTR3 UTR3 LCE3E(NM_178435:c.*48C>G) LCE3E(uc001faa.4:c.*48C>G) ENSG00000185966(ENST00000368789:c.*48C>G) Na Na Na Na Na Na Het;G>C 1007;36|39 Ref Hom;G>C 2303;0|79 N N - 1 152552461 152552461 C A snp intronic LCE3D ENSG00000163202 late cornified envelope 3D chr1:152551857-152552980 Psoriasis; psoriasis Formation of the cornified envelope GO:0008544;epidermis development;IEA|GO:0018149;peptide cross-linking;IBA|GO:0030216;keratinocyte differentiation;IBA|GO:0031424;keratinization;IEA|GO:0070268;cornification;TAS GO:0001533;cornified envelope;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0005198;structural molecule activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LCE3D https://www.ncbi.nlm.nih.gov/omim/?term=612616 http://www.informatics.jax.org/searchtool/Search.do?query=LCE3D&submit=Quick%0D%10903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCE3D rs4845313 0.232228 0.2147 0.2798 1 0 0 intronic intronic intronic LCE3D LCE3D ENSG00000163202 Na Na Na Na Na Na Het;C>A 1361;67|59 Ref Hom;C>A 2247;1|81 N N - 1 152732106 152732106 A T snp nonsynonymous SNV A42T Q14H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) KPRP Kprp ENSG00000203786 keratinocyte proline rich protein chr1:152730506-152734529 This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016] GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPRP https://www.ncbi.nlm.nih.gov/omim/?term=613260 http://www.informatics.jax.org/searchtool/Search.do?query=KPRP&submit=Quick%0D%17142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPRP rs17612167 0.177117 0.1682 0.2249 0.20 2 10 exonic exonic exonic KPRP KPRP ENSG00000203786 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV KPRP:NM_001025231:exon2:c.A42T:p.Q14H, KPRP:uc021ozf.1:exon1:c.A42T:p.Q14H,KPRP:uc001fal.1:exon2:c.A42T:p.Q14H, ENSG00000203786:ENST00000368773:exon2:c.A42T:p.Q14H,ENSG00000203786:ENST00000606109:exon1:c.A42T:p.Q14H, Het;A>T 2848;106|124 Ref Hom;A>T 5133;2|189 N N - 1 153410822 153410822 C A snp nonsynonymous SNV G17T G6V aliphatic,neutral aliphatic,hydrophobic,neutral S100A7L2 ENSG00000197364 S100 calcium binding protein A7 like 2 chr1:153409534-153412425 GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/S100A7L2 http://www.informatics.jax.org/searchtool/Search.do?query=S100A7L2&submit=Quick%0D%16606ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=S100A7L2 rs10888561 0.614217 0.6674 0.6923 0.22 2 9 exonic exonic exonic S100A7L2 S100A7L2 ENSG00000197364 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV S100A7L2:NM_001045479:exon2:c.G17T:p.G6V, S100A7L2:uc010pdx.2:exon2:c.G17T:p.G6V, ENSG00000197364:ENST00000368725:exon2:c.G17T:p.G6V, Het;C>A 1061;66|48 Ref Hom;C>A 3082;2|119 N N - 1 153921483 153921484 AC A indel intronic CRTC2 Crtc2 ENSG00000160741 CREB regulated transcription coactivator 2 chr1:153920145-153931101 This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010] Type 2 diabetes; HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a knock-out allele exhibit decreased circulating corticosterone levels, hepatocyte secretion of glucose in response to glucagon, and glycogen levels in liver and muscle cells. Circadian Clock GO:0006094;gluconeogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016032;viral process;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043970;histone H3-K9 acetylation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051289;protein homotetramerization;IEA|GO:1901998;toxin transport;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008140;cAMP response element binding protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CRTC2 https://www.ncbi.nlm.nih.gov/omim/?term=608972 http://www.informatics.jax.org/searchtool/Search.do?query=CRTC2&submit=Quick%0D%10501ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTC2 rs111395902 0.258786 0 0 1 0 0 intronic intronic intronic CRTC2 CRTC2 ENSG00000160741 Na Na Na Na Na Na Het;-C 402;9|15 Ref Hom;-C 376;0|12 N N - 1 153940739 153940739 A C snp UTR5 -263A>C CREB3L4 Creb3l4 ENSG00000143578 cAMP responsive element binding protein 3 like 4 chr1:153940010-153946839 This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility. CREB3 factors activate genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006986;response to unfolded protein;IEA|GO:0007283;spermatogenesis;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0035497;cAMP response element binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CREB3L4 https://www.uniprot.org/uniprot/Q8TEY5 https://www.ncbi.nlm.nih.gov/omim/?term=607138 http://www.informatics.jax.org/searchtool/Search.do?query=CREB3L4&submit=Quick%0D%8479ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB3L4 rs6661009 0.673123 0 0 1 0 0 UTR5 UTR5 UTR5 CREB3L4(NM_001255979:c.-263A>C,NM_001255981:c.-263A>C) CREB3L4(uc010peg.2:c.-263A>C,uc001fdr.3:c.-263A>C,uc001fdq.3:c.-263A>C) ENSG00000143578(ENST00000368603:c.-263A>C,ENST00000368601:c.-263A>C,ENST00000368600:c.-263A>C) Na Na Na Na Na Na Het;A>C 652;15|23 Ref Hom;A>C 657;0|22 N N - 1 153941514 153941514 C T snp nonsynonymous SNV C283T P95S hydrophobic,neutral polar,hydrophilic,neutral CREB3L4 Creb3l4 ENSG00000143578 cAMP responsive element binding protein 3 like 4 chr1:153940010-153946839 This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility. CREB3 factors activate genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006986;response to unfolded protein;IEA|GO:0007283;spermatogenesis;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0035497;cAMP response element binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CREB3L4 https://www.uniprot.org/uniprot/Q8TEY5 https://www.ncbi.nlm.nih.gov/omim/?term=607138 http://www.informatics.jax.org/searchtool/Search.do?query=CREB3L4&submit=Quick%0D%8479ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB3L4 rs11264743 0.256989 0.2291 0.3076 0.69 9 13 exonic exonic exonic CREB3L4 CREB3L4 ENSG00000143578 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CREB3L4:NM_001255981:exon3:c.C223T:p.P75S,CREB3L4:NM_130898:exon3:c.C283T:p.P95S,CREB3L4:NM_001255980:exon3:c.C223T:p.P75S,CREB3L4:NM_001255978:exon3:c.C283T:p.P95S,CREB3L4:NM_001255979:exon3:c.C283T:p.P95S, CREB3L4:uc001fdm.2:exon3:c.C283T:p.P95S,CREB3L4:uc001fdn.4:exon3:c.C283T:p.P95S,CREB3L4:uc001fdr.3:exon3:c.C283T:p.P95S,CREB3L4:uc010peg.2:exon3:c.C283T:p.P95S,CREB3L4:uc001fdq.3:exon3:c.C223T:p.P75S,CREB3L4:uc001fdo.4:exon3:c.C223T:p.P75S, ENSG00000143578:ENST00000368603:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000449724:exon3:c.C223T:p.P75S,ENSG00000143578:ENST00000368607:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000368601:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000431292:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000271889:exon3:c.C283T:p.P95S,ENSG00000143578:ENST00000368600:exon3:c.C223T:p.P75S, Het;C>T 1519;86|70 Ref Hom;C>T 3647;0|131 N N - 1 154112167 154112167 A C snp intronic NUP210L Nup210l ENSG00000143552 nucleoporin 210 like chr1:153965161-154127592 Mice homozygous for a transgene insertion exhibit male infertility, asthenozoospermia, teratozoospermia, azoospermia, and seminiferous tubule degeneration. GO:0007286;spermatid development;IEA|GO:0060009;Sertoli cell development;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUP210L https://www.uniprot.org/uniprot/Q5VU65 http://www.informatics.jax.org/searchtool/Search.do?query=NUP210L&submit=Quick%0D%8472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP210L rs2500223 0 0 0 1 0 0 intronic intronic intronic NUP210L NUP210L ENSG00000143552 Na Na Na Na Na Na Het;A>C 80;3|5 Ref Hom;A>C 129;0|4 N N - 1 154285052 154285052 G A snp intergenic HAX1 Hax1 ENSG00000143575 HCLS1 associated protein X-1 chr1:154244987-154248351 The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Myelodysplastic Syndromes Mice homozygous for deletion of this gene fail to survive beyond 14 weeks of age. Apoptosis of neurons in the striatum and cerebellum occurs as does loss of lymphocytes and neutrophiles. GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0030854;positive regulation of granulocyte differentiation;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0071345;cellular response to cytokine stimulus;IMP|GO:1903146;regulation of mitophagy;TAS|GO:1903214;regulation of protein targeting to mitochondrion;TAS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP GO:0000932;P-body;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005783;endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030027;lamellipodium;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA GO:0005515;protein binding;IPI|GO:0019966;interleukin-1 binding;IDA|GO:0047485;protein N-terminus binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HAX1 https://www.uniprot.org/uniprot/O00165 https://hpo.jax.org/app/browse/search?q=HAX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605998 http://www.informatics.jax.org/searchtool/Search.do?query=HAX1&submit=Quick%0D%8478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAX1 rs11265530 0.321286 0 0 1 0 0 intergenic intergenic intergenic HAX1(dist=36697),AQP10(dist=8540) HAX1(dist=36697),AQP10(dist=8540) ENSG00000222457(dist=14828),ENSG00000143595(dist=8540) Na Na Na Na Na Na Het;G>A 435;33|24 Ref Hom;G>A 1117;2|45 N N - 1 154285078 154285078 T G snp intergenic HAX1 Hax1 ENSG00000143575 HCLS1 associated protein X-1 chr1:154244987-154248351 The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Myelodysplastic Syndromes Mice homozygous for deletion of this gene fail to survive beyond 14 weeks of age. Apoptosis of neurons in the striatum and cerebellum occurs as does loss of lymphocytes and neutrophiles. GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030833;regulation of actin filament polymerization;IMP|GO:0030854;positive regulation of granulocyte differentiation;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0042981;regulation of apoptotic process;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0071345;cellular response to cytokine stimulus;IMP|GO:1903146;regulation of mitophagy;TAS|GO:1903214;regulation of protein targeting to mitochondrion;TAS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IMP GO:0000932;P-body;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005783;endoplasmic reticulum;TAS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;ISS|GO:0016020;membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030027;lamellipodium;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA GO:0005515;protein binding;IPI|GO:0019966;interleukin-1 binding;IDA|GO:0047485;protein N-terminus binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HAX1 https://www.uniprot.org/uniprot/O00165 https://hpo.jax.org/app/browse/search?q=HAX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605998 http://www.informatics.jax.org/searchtool/Search.do?query=HAX1&submit=Quick%0D%8478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAX1 rs11581043 0.465655 0 0 1 0 0 intergenic intergenic intergenic HAX1(dist=36723),AQP10(dist=8514) HAX1(dist=36723),AQP10(dist=8514) ENSG00000222457(dist=14854),ENSG00000143595(dist=8514) Na Na Na Na Na Na Het;T>G 199;22|10 Het;T>G 433;25|20 Hom;T>G 580;2|25 N N - 1 154293675 154293675 G A snp nonsynonymous SNV G44A R15Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral AQP10 ENSG00000143595 aquaporin 10 chr1:154293566-154297801 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Cell Adhesion Molecules; Coronary Disease|Coronary heart disease|Myocardial Infarction; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone Passive transport by Aquaporins GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0009636;response to toxic substance;IDA|GO:0015793;glycerol transport;IEA|GO:0071918;urea transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;EXP|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/AQP10 https://www.uniprot.org/uniprot/Q96PS8 https://www.ncbi.nlm.nih.gov/omim/?term=606578 http://www.informatics.jax.org/searchtool/Search.do?query=AQP10&submit=Quick%0D%8481ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP10 rs6668968 0.273163 0.2847 0.2921 0.23 3 13 exonic exonic exonic AQP10 AQP10 ENSG00000143595 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV AQP10:NM_080429:exon1:c.G44A:p.R15Q, AQP10:uc001feu.3:exon1:c.G44A:p.R15Q, ENSG00000143595:ENST00000324978:exon1:c.G44A:p.R15Q,ENSG00000143595:ENST00000484864:exon1:c.G44A:p.R15Q, Het;G>A 1587;74|67 Het;G>A 1426;73|67 Hom;G>A 2875;0|104 N N - 1 154294656 154294656 T C snp intronic AQP10 ENSG00000143595 aquaporin 10 chr1:154293566-154297801 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Cell Adhesion Molecules; Coronary Disease|Coronary heart disease|Myocardial Infarction; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone Passive transport by Aquaporins GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0009636;response to toxic substance;IDA|GO:0015793;glycerol transport;IEA|GO:0071918;urea transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;EXP|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/AQP10 https://www.uniprot.org/uniprot/Q96PS8 https://www.ncbi.nlm.nih.gov/omim/?term=606578 http://www.informatics.jax.org/searchtool/Search.do?query=AQP10&submit=Quick%0D%8481ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP10 rs1194607 0.577476 0 0 1 0 0 intronic intronic intronic AQP10 AQP10 ENSG00000143595 Na Na Na Na Na Na Het;T>C 172;6|7 Het;T>C 190;6|7 Hom;T>C 394;0|11 N N - 1 154295592 154295592 C T snp nonsynonymous SNV C367T H123Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic AQP10 ENSG00000143595 aquaporin 10 chr1:154293566-154297801 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Cell Adhesion Molecules; Coronary Disease|Coronary heart disease|Myocardial Infarction; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone Passive transport by Aquaporins GO:0006810;transport;IEA|GO:0006833;water transport;TAS|GO:0009636;response to toxic substance;IDA|GO:0015793;glycerol transport;IEA|GO:0071918;urea transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015250;water channel activity;EXP|GO:0015254;glycerol channel activity;EXP|GO:0015265;urea channel activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/AQP10 https://www.uniprot.org/uniprot/Q96PS8 https://www.ncbi.nlm.nih.gov/omim/?term=606578 http://www.informatics.jax.org/searchtool/Search.do?query=AQP10&submit=Quick%0D%8481ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP10 rs6685323 0.293331 0.2999 0.2972 0.31 4 13 exonic exonic exonic AQP10 AQP10 ENSG00000143595 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV AQP10:NM_080429:exon3:c.C367T:p.H123Y, AQP10:uc001feu.3:exon3:c.C367T:p.H123Y, ENSG00000143595:ENST00000324978:exon3:c.C367T:p.H123Y,ENSG00000143595:ENST00000484864:exon3:c.C367T:p.H123Y, Het;C>T 938;49|42 Het;C>T 770;43|36 Hom;C>T 1771;4|70 N N - 1 154303705 154303705 C T snp intronic ATP8B2 Atp8b2 ENSG00000143515 ATPase phospholipid transporting 8B2 chr1:154298029-154323783 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B2 https://www.uniprot.org/uniprot/P98198 https://www.ncbi.nlm.nih.gov/omim/?term=605867 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B2&submit=Quick%0D%8464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B2 rs12727865 0.291334 0 0 1 0 0 intronic intronic intronic ATP8B2 ATP8B2 ENSG00000143515 Na Na Na Na Na Na Het;C>T 297;7|10 Het;C>T 222;4|8 Hom;C>T 394;0|14 N N - 1 154303976 154303976 T C snp synonymous SNV T360C N120N polar,hydrophilic,neutral polar,hydrophilic,neutral ATP8B2 Atp8b2 ENSG00000143515 ATPase phospholipid transporting 8B2 chr1:154298029-154323783 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B2 https://www.uniprot.org/uniprot/P98198 https://www.ncbi.nlm.nih.gov/omim/?term=605867 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B2&submit=Quick%0D%8464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B2 rs6702754 0.291334 0.2999 0.2966 1 0 0 exonic exonic exonic ATP8B2 ATP8B2 ENSG00000143515 synonymous SNV synonymous SNV synonymous SNV ATP8B2:NM_001005855:exon6:c.T360C:p.N120N,ATP8B2:NM_020452:exon6:c.T459C:p.N153N, ATP8B2:uc001fex.3:exon6:c.T459C:p.N153N,ATP8B2:uc001few.3:exon6:c.T360C:p.N120N,ATP8B2:uc001fey.1:exon5:c.T417C:p.N139N, ENSG00000143515:ENST00000368487:exon6:c.T360C:p.N120N,ENSG00000143515:ENST00000341822:exon5:c.T417C:p.N139N,ENSG00000143515:ENST00000368489:exon6:c.T459C:p.N153N, Het;T>C 1388;74|63 Het;T>C 1063;51|48 Hom;T>C 2119;2|81 N N - 1 154305190 154305190 G C snp intronic ATP8B2 Atp8b2 ENSG00000143515 ATPase phospholipid transporting 8B2 chr1:154298029-154323783 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B2 https://www.uniprot.org/uniprot/P98198 https://www.ncbi.nlm.nih.gov/omim/?term=605867 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B2&submit=Quick%0D%8464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B2 rs12077870 0.291334 0.2957 0.3567 1 0 0 intronic intronic intronic ATP8B2 ATP8B2 ENSG00000143515 Na Na Na Na Na Na Het;G>C 904;38|40 Het;G>C 997;35|42 Hom;G>C 2178;0|80 N N - 1 154310223 154310223 G GA indel UTR3 *73G>GA ATP8B2 Atp8b2 ENSG00000143515 ATPase phospholipid transporting 8B2 chr1:154298029-154323783 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B2 https://www.uniprot.org/uniprot/P98198 https://www.ncbi.nlm.nih.gov/omim/?term=605867 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B2&submit=Quick%0D%8464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B2 rs11448687 0.310304 0 0 1 0 0 UTR3 UTR3 UTR3 ATP8B2(NM_001005855:c.*73G>GA) ATP8B2(uc001few.3:c.*73G>GA) ENSG00000143515(ENST00000368487:c.*73G>GA) Na Na Na Na Na Na Het;+A 176;6|9 Ref Hom;+A 342;0|14 N N - 1 154317281 154317281 G A snp intronic ATP8B2 Atp8b2 ENSG00000143515 ATPase phospholipid transporting 8B2 chr1:154298029-154323783 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B2 https://www.uniprot.org/uniprot/P98198 https://www.ncbi.nlm.nih.gov/omim/?term=605867 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B2&submit=Quick%0D%8464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B2 rs9660850 0.137979 0.1378 0.1626 1 0 0 intronic intronic intronic ATP8B2 ATP8B2 ENSG00000143515 Na Na Na Na Na Na Het;G>A 1142;61|53 Ref Hom;G>A 2577;2|92 N N - 1 154318172 154318172 A G snp intronic ATP8B2 Atp8b2 ENSG00000143515 ATPase phospholipid transporting 8B2 chr1:154298029-154323783 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B2 https://www.uniprot.org/uniprot/P98198 https://www.ncbi.nlm.nih.gov/omim/?term=605867 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B2&submit=Quick%0D%8464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B2 rs1979575 0.138978 0 0 1 0 0 intronic intronic intronic ATP8B2 ATP8B2 ENSG00000143515 Na Na Na Na Na Na Het;A>G 270;17|11 Ref Hom;A>G 719;0|22 N N - 1 154437896 154437896 T C snp UTR3 *40T>C IL6R Il6ra ENSG00000160712 interleukin 6 receptor chr1:154377669-154441926 This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011] chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing. Interleukin-4 and 13 signaling GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL6R https://www.ncbi.nlm.nih.gov/omim/?term=147880 http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R rs2229238 0.796925 0.8035 0.7975 1 0 0 UTR3 UTR3 UTR3 IL6R(NM_000565:c.*40T>C,NM_181359:c.*255T>C) IL6R(uc001fez.2:c.*40T>C,uc001ffa.2:c.*255T>C) ENSG00000160712(ENST00000368485:c.*40T>C,ENST00000344086:c.*255T>C) Na Na Na Na Na Na Het;T>C 829;43|33 Het;T>C 904;23|34 Hom;T>C 1650;0|48 N N - 1 154580458 154580458 C A snp intronic ADAR Adar ENSG00000160710 adenosine deaminase, RNA specific chr1:154554538-154600475 This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] Hepatitis B, Chronic; Tobacco Use Disorder; hepatitis B; Hepatitis C, Chronic|Liver Cirrhosis; colorectal cancer; Dengue Hemorrhagic Fever; Multiple Sclerosis, Relapsing-Remitting; Asthma; hepatitis C, chronic Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. Interferon alpha/beta signaling GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0002376;immune system process;IEA|GO:0002566;somatic diversification of immune receptors via somatic mutation;IEA|GO:0006382;adenosine to inosine editing;TAS|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0009615;response to virus;IMP|GO:0016553;base conversion or substitution editing;IDA|GO:0030218;erythrocyte differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0031054;pre-miRNA processing;IDA|GO:0035196;production of miRNAs involved in gene silencing by miRNA;IEA|GO:0035280;miRNA loading onto RISC involved in gene silencing by miRNA;IDA|GO:0035455;response to interferon-alpha;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IDA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045071;negative regulation of viral genome replication;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060216;definitive hemopoiesis;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0060339;negative regulation of type I interferon-mediated signaling pathway;IEA|GO:0061484;hematopoietic stem cell homeostasis;IEA|GO:0098586;cellular response to virus;IEA|GO:1900369;negative regulation of RNA interference;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0044530;supraspliceosomal complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003726;double-stranded RNA adenosine deaminase activity;TAS|GO:0004000;adenosine deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAR https://hpo.jax.org/app/browse/search?q=ADAR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=146920 http://www.informatics.jax.org/searchtool/Search.do?query=ADAR&submit=Quick%0D%10497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAR rs58655370 0.304712 0.2792 0.2584 1 0 0 intronic intronic intronic ADAR ADAR ENSG00000160710 Na Na Na Na Na Na Het;C>A 268;13|13 Het;C>A 332;15|17 Hom;C>A 765;0|30 N N - 1 154744807 154744807 C G snp synonymous SNV G1092C L364L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KCNN3 Kcnn3 ENSG00000143603 potassium calcium-activated channel subfamily N member 3 chr1:154669931-154842756 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] bipolar disorder; Tobacco Use Disorder; Atrioventricular Block|Myotonic Dystrophy; psychosis; Atrial Fibrillation; migraine; migraine with aura; Coronary Artery Disease; Schizophrenia; Atrial fibrillation ; anorexia nervosa; schizophrenia; schizoaffective disorder; bipolar disorder; schizophrenia; Sodium; Bulimia; bipolar affective disorder; patent ductus arteriosus; Autism; schizophrenia; bipolar disorder Mice homozygous for an insertion of a tetracycline-regulated gene switch display no overt phenotype when expression is abolished by doxycycline treatment; in contrast, untreated homozygotes show abnormal respiratory responses to hypoxia, impaired parturition, and pregnancy-related premature death. Ca2+ activated K+ channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IBA GO:0005516;calmodulin binding;IEA|GO:0015269;calcium-activated potassium channel activity;IEA|GO:0016286;small conductance calcium-activated potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNN3 https://www.uniprot.org/uniprot/Q9UGI6 https://www.ncbi.nlm.nih.gov/omim/?term=602983 http://www.informatics.jax.org/searchtool/Search.do?query=KCNN3&submit=Quick%0D%8482ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNN3 rs1051614 0.535343 0.5816 0.5813 1 0 0 exonic exonic exonic KCNN3 KCNN3 ENSG00000143603 synonymous SNV synonymous SNV synonymous SNV KCNN3:NM_001204087:exon3:c.G1092C:p.L364L,KCNN3:NM_170782:exon3:c.G177C:p.L59L,KCNN3:NM_002249:exon3:c.G1092C:p.L364L, KCNN3:uc021pah.1:exon3:c.G1092C:p.L364L,KCNN3:uc001ffo.3:exon3:c.G177C:p.L59L,KCNN3:uc001ffp.3:exon3:c.G1092C:p.L364L,KCNN3:uc031ppq.1:exon3:c.G153C:p.L51L,KCNN3:uc009wox.1:exon3:c.G1092C:p.L364L, ENSG00000143603:ENST00000271915:exon3:c.G1092C:p.L364L,ENSG00000143603:ENST00000361147:exon3:c.G177C:p.L59L,ENSG00000143603:ENST00000358505:exon3:c.G153C:p.L51L, Het;C>G 2537;106|107 Het;C>G 1778;84|71 Hom;C>G 5163;6|182 N N - 1 155178782 155178782 A T snp nonsynonymous SNV A187T T63S polar,hydrophilic,neutral polar,hydrophilic,neutral MTX1 Mtx1 ENSG00000173171 metaxin 1 chr1:155178490-155183615 Acquired Immunodeficiency Syndrome|Disease Progression Cristae formation GO:0006626;protein targeting to mitochondrion;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTX1 https://www.ncbi.nlm.nih.gov/omim/?term=600605 http://www.informatics.jax.org/searchtool/Search.do?query=MTX1&submit=Quick%0D%13303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTX1 rs760077 0.666733 0.6294 0.6688 1 0 0 exonic exonic exonic MTX1 MTX1 ENSG00000173171 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MTX1:NM_198883:exon1:c.A187T:p.T63S,MTX1:NM_002455:exon1:c.A187T:p.T63S, MTX1:uc001fjb.3:exon1:c.A187T:p.T63S,MTX1:uc001fjc.3:exon1:c.A187T:p.T63S, ENSG00000173171:ENST00000368376:exon1:c.A187T:p.T63S,ENSG00000173171:ENST00000316721:exon1:c.A187T:p.T63S, Het;A>T 447;41|22 Ref Hom;A>T 2322;0|82 N N - 1 155184975 155184975 A G snp ncRNA_exonic GBAP1 rs2990223 0.664537 0 0.6369 1 0 0 ncRNA_intronic intronic ncRNA_exonic GBAP1 GBAP1 ENSG00000160766 Na Na Na Na Na Na Het;A>G 1117;82|52 Ref Hom;A>G 3576;1|128 N N - 1 155715641 155715641 G A snp nonsynonymous SNV G22A V8M aliphatic,hydrophobic,neutral hydrophobic,neutral MSTO2P rs11264409 0.349441 0 0.4694 1 0 0 ncRNA_exonic exonic ncRNA_exonic MSTO2P MSTO2P ENSG00000203761 Na nonsynonymous SNV Na Na MSTO2P:uc010pgn.2:exon1:c.G22A:p.V8M,MSTO2P:uc010pgo.2:exon1:c.G22A:p.V8M, Na Het;G>A 575;18|27 Ref Hom;G>A 1285;0|47 N N - 1 155723297 155723297 T C snp intronic GON4L Gon4l ENSG00000116580 gon-4 like chr1:155719508-155829191 Tobacco Use Disorder Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030183;B cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GON4L https://www.uniprot.org/uniprot/Q3T8J9 https://www.ncbi.nlm.nih.gov/omim/?term=610393 http://www.informatics.jax.org/searchtool/Search.do?query=GON4L&submit=Quick%0D%4754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GON4L rs6427286 0.552316 0 0 1 0 0 intronic intronic intronic GON4L GON4L,YY1AP1 ENSG00000116580 Na Na Na Na Na Na Het;T>C 214;18|8 Ref Hom;T>C 594;0|20 N N - 1 155735012 155735012 T C snp nonsynonymous SNV A4252G M1418V hydrophobic,neutral aliphatic,hydrophobic,neutral GON4L Gon4l ENSG00000116580 gon-4 like chr1:155719508-155829191 Tobacco Use Disorder Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030183;B cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GON4L https://www.uniprot.org/uniprot/Q3T8J9 https://www.ncbi.nlm.nih.gov/omim/?term=610393 http://www.informatics.jax.org/searchtool/Search.do?query=GON4L&submit=Quick%0D%4754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GON4L rs2297775 0.354233 0.2710 0.3344 0.15 2 13 exonic exonic exonic GON4L GON4L ENSG00000116580 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV GON4L:NM_032292:exon21:c.A4252G:p.M1418V,GON4L:NM_001282858:exon21:c.A4252G:p.M1418V,GON4L:NM_001282856:exon21:c.A4252G:p.M1418V,GON4L:NM_001282860:exon21:c.A4252G:p.M1418V,GON4L:NM_001282861:exon21:c.A4252G:p.M1418V, GON4L:uc001fly.1:exon21:c.A4252G:p.M1418V,GON4L:uc001fmb.4:exon6:c.A1840G:p.M614V,GON4L:uc009wrh.1:exon21:c.A4252G:p.M1418V,GON4L:uc009wri.3:exon20:c.A3010G:p.M1004V,GON4L:uc001fma.1:exon21:c.A4252G:p.M1418V,GON4L:uc001fmd.4:exon21:c.A4252G:p.M1418V,GON4L:uc001fmc.3:exon21:c.A4252G:p.M1418V,GON4L:uc001flz.2:exon21:c.A4252G:p.M1418V, ENSG00000116580:ENST00000271883:exon21:c.A4252G:p.M1418V,ENSG00000116580:ENST00000368331:exon21:c.A4252G:p.M1418V,ENSG00000116580:ENST00000437809:exon21:c.A4252G:p.M1418V,ENSG00000116580:ENST00000361040:exon21:c.A4252G:p.M1418V, Het;T>C 2800;92|108 Ref Hom;T>C 4410;1|149 N N - 1 155829511 155829511 C T snp UTR5 -42C>T SYT11 Syt11 ENSG00000132718 synaptotagmin 11 chr1:155829300-155854990 This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010] Weight Gain; Parkinson's disease Homozygous mutation of this gene results in no obvious abnormal phenotype. Clathrin-mediated endocytosis GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IBA|GO:0009611;response to wounding;IEA|GO:0046929;negative regulation of neurotransmitter secretion;TAS|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0051289;protein homotetramerization;IEA|GO:1900165;negative regulation of interleukin-6 secretion;IEA|GO:1900186;negative regulation of clathrin-dependent endocytosis;IEA|GO:1900243;negative regulation of synaptic vesicle endocytosis;IEA|GO:1900424;regulation of defense response to bacterium;IEA|GO:1904468;negative regulation of tumor necrosis factor secretion;IEA|GO:1905154;negative regulation of membrane invagination;IEA|GO:1905162;regulation of phagosome maturation;IC|GO:1905171;positive regulation of protein localization to phagocytic vesicle;IEA|GO:1905469;negative regulation of clathrin-coated pit assembly;IEA|GO:1990927;calcium ion regulated lysosome exocytosis;IEA GO:0001891;phagocytic cup;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005886;plasma membrane;IBA|GO:0005887;integral component of plasma membrane;IEA|GO:0008021;synaptic vesicle;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IEA|GO:0032009;early phagosome;IEA|GO:0043005;neuron projection;IDA|GO:0043195;terminal bouton;IEA|GO:0043197;dendritic spine;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0045335;phagocytic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0048787;presynaptic active zone membrane;IEA|GO:0055037;recycling endosome;IEA|GO:0060076;excitatory synapse;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098793;presynapse;IEA GO:0000149;SNARE binding;IEA|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0031369;translation initiation factor binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0048487;beta-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SYT11 https://www.uniprot.org/uniprot/Q9BT88 https://www.ncbi.nlm.nih.gov/omim/?term=608741 http://www.informatics.jax.org/searchtool/Search.do?query=SYT11&submit=Quick%0D%6732ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT11 rs3820594 0.348842 0.2602 0.3281 1 0 0 UTR5 UTR5 UTR5 SYT11(NM_152280:c.-42C>T) SYT11(uc001fmg.3:c.-42C>T,uc010pgq.2:c.-20840C>T) ENSG00000132718(ENST00000368324:c.-42C>T,ENST00000539162:c.-20840C>T) Na Na Na Na Na Na Het;C>T 228;12|12 Ref Hom;C>T 759;0|31 N N - 1 155870416 155870416 G A snp intronic RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs1749409 0.779752 0.7934 0.8772 1 0 0 intronic intronic intronic RIT1 RIT1 ENSG00000143622 Na Na Na Na Na Na Het;G>A 709;32|28 Het;G>A 302;18|13 Hom;G>A 1445;0|52 N N - 1 155872152 155872152 C CA indel intronic RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs199556134 0.325479 0 0 1 0 0 intronic intronic intronic RIT1 RIT1 ENSG00000143622 Na Na Na Na Na Na Het;+A 138;18|13 Ref Hom;+A 437;2|21 N N - 1 155880159 155880159 T C snp intronic RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs867549 0.380192 0 0 1 0 0 intronic intronic intronic RIT1 RIT1 ENSG00000143622 Na Na Na Na Na Na Het;T>C 462;16|15 Ref Hom;T>C 512;0|16 N N - 1 155880391 155880391 T C snp intronic RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs867550 0.374002 0 0 1 0 0 intronic intronic intronic RIT1 RIT1 ENSG00000143622 Na Na Na Na Na Na Het;T>C 1318;29|47 Ref Hom;T>C 1188;1|37 N N - 1 155880573 155880573 C G snp nonsynonymous SNV G31C E11Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs493446 0.779952 0.7952 0.8775 0.11 1 9 exonic exonic exonic RIT1 RIT1 ENSG00000143622 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV RIT1:NM_001256821:exon2:c.G31C:p.E11Q, RIT1:uc031pqc.1:exon2:c.G31C:p.E11Q, ENSG00000143622:ENST00000368322:exon2:c.G31C:p.E11Q, Het;C>G 1735;67|73 Het;C>G 1340;78|61 Hom;C>G 4731;0|173 N N - 1 155880760 155880760 C CA indel intronic RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs79437610 0.754992 0 0 1 0 0 intronic intronic intronic RIT1 RIT1 ENSG00000143622 Na Na Na Na Na Na Het;+A 422;16|14 Het;+A 313;8|10 Hom;+A 1053;0|27 N N - 1 155904177 155904177 T C snp UTR5 -13A>G KIAA0907 2810403A07Rik ENSG00000132680 KIAA0907 chr1:155882834-155904191 GO:0005634;nucleus;IBA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIAA0907 https://www.uniprot.org/uniprot/Q7Z7F0 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0907&submit=Quick%0D%6721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0907 rs2275079 0.779553 0.7935 0.8771 1 0 0 UTR5 UTR5 UTR5 KIAA0907(NM_014949:c.-13A>G) KIAA0907(uc001fmi.1:c.-13A>G,uc001fmj.1:c.-13A>G,uc001fml.1:c.-13A>G,uc001fmm.3:c.-13A>G,uc001fmo.3:c.-13A>G) ENSG00000132680(ENST00000368321:c.-13A>G,ENST00000368320:c.-13A>G) Na Na Na Na Na Na Het;T>C 1539;70|70 Het;T>C 726;44|38 Hom;T>C 2851;0|108 N N - 1 155917880 155917880 T A snp intronic ARHGEF2 Arhgef2 ENSG00000116584 Rho/Rac guanine nucleotide exchange factor 2 chr1:155916630-155976861 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] breast cancer; coronary spastic angina Mice homozygous for a gene trap allele exhibit impaired response to viral infection. G alpha (12/13) signalling events GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2 https://www.uniprot.org/uniprot/Q92974 https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607560 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2 rs1010033 0.773163 0 0 1 0 0 intronic intronic intronic ARHGEF2 ARHGEF2 ENSG00000116584 Na Na Na Na Na Na Het;T>A 182;25|10 Het;T>A 349;18|14 Hom;T>A 1347;0|47 N N - 1 155927752 155927752 G A snp intronic ARHGEF2 Arhgef2 ENSG00000116584 Rho/Rac guanine nucleotide exchange factor 2 chr1:155916630-155976861 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] breast cancer; coronary spastic angina Mice homozygous for a gene trap allele exhibit impaired response to viral infection. G alpha (12/13) signalling events GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2 https://www.uniprot.org/uniprot/Q92974 https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607560 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2 rs2364403 0.364417 0 0 1 0 0 intronic intronic intronic ARHGEF2 ARHGEF2 ENSG00000116584 Na Na Na Na Na Na Het;G>A 353;12|13 Ref Hom;G>A 465;0|18 N N - 1 155928232 155928232 T C snp intronic ARHGEF2 Arhgef2 ENSG00000116584 Rho/Rac guanine nucleotide exchange factor 2 chr1:155916630-155976861 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] breast cancer; coronary spastic angina Mice homozygous for a gene trap allele exhibit impaired response to viral infection. G alpha (12/13) signalling events GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2 https://www.uniprot.org/uniprot/Q92974 https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607560 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2 rs2364404 0.773962 0.7874 0.8758 1 0 0 intronic intronic intronic ARHGEF2 ARHGEF2 ENSG00000116584 Na Na Na Na Na Na Het;T>C 503;37|26 Het;T>C 774;29|23 Hom;T>C 2077;2|51 N N - 1 155928242 155928242 C T snp intronic ARHGEF2 Arhgef2 ENSG00000116584 Rho/Rac guanine nucleotide exchange factor 2 chr1:155916630-155976861 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] breast cancer; coronary spastic angina Mice homozygous for a gene trap allele exhibit impaired response to viral infection. G alpha (12/13) signalling events GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2 https://www.uniprot.org/uniprot/Q92974 https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607560 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2 rs2886069 0.780351 0.8075 0 1 0 0 intronic intronic intronic ARHGEF2 ARHGEF2 ENSG00000116584 Na Na Na Na Na Na Het;C>T 719;31|20 Het;C>T 714;27|20 Hom;C>T 1924;0|41 N N - 1 155935244 155935244 C A snp intronic ARHGEF2 Arhgef2 ENSG00000116584 Rho/Rac guanine nucleotide exchange factor 2 chr1:155916630-155976861 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] breast cancer; coronary spastic angina Mice homozygous for a gene trap allele exhibit impaired response to viral infection. G alpha (12/13) signalling events GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000902;cell morphogenesis;IMP|GO:0002376;immune system process;IEA|GO:0006886;intracellular protein transport;NAS|GO:0007015;actin filament organization;IMP|GO:0007026;negative regulation of microtubule depolymerization;IMP|GO:0007049;cell cycle;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0035023;regulation of Rho protein signal transduction;NAS|GO:0035556;intracellular signal transduction;IEA|GO:0042127;regulation of cell proliferation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051301;cell division;IEA|GO:0060546;negative regulation of necroptotic process;ISS|GO:0071225;cellular response to muramyl dipeptide;IDA|GO:0071356;cellular response to tumor necrosis factor;ISS|GO:0071474;cellular hyperosmotic response;ISS|GO:0071802;negative regulation of podosome assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;ISS|GO:1902219;negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;ISS GO:0002102;podosome;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043234;protein complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0008134;transcription factor binding;ISS|GO:0008270;zinc ion binding;NAS|GO:0017048;Rho GTPase binding;IDA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF2 https://www.uniprot.org/uniprot/Q92974 https://hpo.jax.org/app/browse/search?q=ARHGEF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607560 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF2&submit=Quick%0D%4755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF2 rs2297649 0.363419 0.2458 0.3089 1 0 0 intronic intronic intronic ARHGEF2 ARHGEF2 ENSG00000116584 Na Na Na Na Na Na Het;C>A 888;52|36 Ref Hom;C>A 1685;0|64 N N - 1 156213257 156213257 G A snp UTR3 *663C>T PAQR6 Paqr6 ENSG00000160781 progestin and adipoQ receptor family member 6 chr1:156213206-156217881 GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0048545;response to steroid hormone;IBA GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003707;steroid hormone receptor activity;IBA|GO:0005496;steroid binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PAQR6 https://www.ncbi.nlm.nih.gov/omim/?term=614579 http://www.informatics.jax.org/searchtool/Search.do?query=PAQR6&submit=Quick%0D%10506ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAQR6 rs759330 0.772963 0 0 1 0 0 UTR3 UTR3 UTR3 PAQR6(NM_001272113:c.*395C>T,NM_001272112:c.*395C>T,NM_198406:c.*663C>T,NM_001272108:c.*663C>T,NM_001272105:c.*663C>T,NM_001272106:c.*395C>T,NM_024897:c.*395C>T,NM_001272111:c.*395C>T,NM_001272104:c.*663C>T,NM_001272107:c.*663C>T,NM_001272110:c.*395C>T,NM_001272109:c.*395C>T) PAQR6(uc031pqe.1:c.*395C>T,uc001fnu.2:c.*663C>T,uc010phf.2:c.*395C>T,uc031pqf.1:c.*395C>T,uc001fny.2:c.*395C>T,uc031pqg.1:c.*395C>T,uc001fnx.2:c.*663C>T,uc010phh.2:c.*663C>T,uc001fnv.2:c.*663C>T,uc010phg.2:c.*663C>T,uc031pqh.1:c.*395C>T,uc001fob.2:c.*395C>T,uc031pqi.1:c.*663C>T,uc001foa.2:c.*663C>T,uc001fnz.2:c.*395C>T) ENSG00000160781(ENST00000292291:c.*663C>T,ENST00000356983:c.*395C>T,ENST00000335852:c.*395C>T,ENST00000340183:c.*663C>T,ENST00000368270:c.*663C>T) Na Na Na Na Na Na Het;G>A 1367;66|57 Het;G>A 1116;53|52 Hom;G>A 2899;0|98 N N - 1 156287403 156287403 T C snp intronic CCT3 Cct3 ENSG00000163468 chaperonin containing TCP1 subunit 3 chr1:156278759-156337664 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010] Cleft Lip|Cleft Palate Mice homozygous for a transgenic gene disruption may exhibit lethality at E8. Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046931;pore complex assembly;IEA|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;TAS|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0044183;protein binding involved in protein folding;IPI|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CCT3 https://www.ncbi.nlm.nih.gov/omim/?term=600114 http://www.informatics.jax.org/searchtool/Search.do?query=CCT3&submit=Quick%0D%10974ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT3 rs2296374 0.455471 0 0 1 0 0 intronic intronic intronic CCT3 CCT3 ENSG00000163468 Na Na Na Na Na Na Het;T>C 330;14|12 Het;T>C 168;15|7 Hom;T>C 772;0|24 N N - 1 156304782 156304782 A G snp intronic CCT3 Cct3 ENSG00000163468 chaperonin containing TCP1 subunit 3 chr1:156278759-156337664 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010] Cleft Lip|Cleft Palate Mice homozygous for a transgenic gene disruption may exhibit lethality at E8. Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0046931;pore complex assembly;IEA|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;TAS|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0044183;protein binding involved in protein folding;IPI|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CCT3 https://www.ncbi.nlm.nih.gov/omim/?term=600114 http://www.informatics.jax.org/searchtool/Search.do?query=CCT3&submit=Quick%0D%10974ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT3 rs3762281 0.457069 0.3723 0 1 0 0 intronic intronic intronic CCT3 CCT3 ENSG00000163468 Na Na Na Na Na Na Het;A>G 442;16|16 Het;A>G 361;9|11 Hom;A>G 981;0|30 N N - 1 156314627 156314627 A G snp intronic TSACC Tsacc ENSG00000163467 TSSK6 activating cochaperone chr1:156307105-156316786 GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSACC http://www.informatics.jax.org/searchtool/Search.do?query=TSACC&submit=Quick%0D%10973ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSACC rs2274226 0.466454 0 0 1 0 0 intronic intronic intronic TSACC TSACC ENSG00000163467,ENSG00000163468 Na Na Na Na Na Na Het;A>G 224;7|8 Het;A>G 162;2|6 Hom;A>G 373;0|10 N N - 1 156368885 156368885 T C snp intergenic RHBG Rhbg ENSG00000132677 Rh family B glycoprotein (gene/pseudogene) chr1:156339003-156355011 This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells. Rhesus glycoproteins mediate ammonium transport. GO:0006810;transport;IEA|GO:0015695;organic cation transport;IBA|GO:0015696;ammonium transport;IDA|GO:0070634;transepithelial ammonium transport;IDA|GO:0072488;ammonium transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014731;spectrin-associated cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0046658;anchored component of plasma membrane;IMP GO:0008519;ammonium transmembrane transporter activity;TAS|GO:0030506;ankyrin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RHBG https://www.uniprot.org/uniprot/Q9H310 https://www.ncbi.nlm.nih.gov/omim/?term=607079 http://www.informatics.jax.org/searchtool/Search.do?query=RHBG&submit=Quick%0D%6720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBG rs7539553 0.709065 0 0 1 0 0 intergenic intergenic intergenic RHBG(dist=13872),C1orf61(dist=5170) RHBG(dist=13872),BC016978(dist=5164) ENSG00000237390(dist=3484),ENSG00000125462(dist=5159) Na Na Na Na Na Na Het;T>C 53;2|4 Ref Hom;T>C 161;0|6 N N - 1 156617968 156617968 G A snp ncRNA_intronic AL590666.2 rs2277873 0.359425 0 0 1 0 0 intronic intronic ncRNA_intronic BCAN BCAN ENSG00000229953 Na Na Na Na Na Na Het;G>A 701;27|26 Het;G>A 658;21|23 Hom;G>A 1109;0|37 N N - 1 156618768 156618768 T G snp ncRNA_intronic AL590666.2 rs4661209 0.610423 0 0 1 0 0 intronic intronic ncRNA_intronic BCAN BCAN ENSG00000229953 Na Na Na Na Na Na Het;T>G 81;1|3 Het;T>G 37;2|2 Hom;T>G 166;0|5 N N - 1 156622252 156622252 G A snp nonsynonymous SNV G1510A E504K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) BCAN Bcan ENSG00000132692 brevican chr1:156611182-156629324 This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Brain Ischemia|Stroke Homozygous mutation of this gene results in impaired LTP maintenance, but mutant animals show normal behavior and spatial learning capabilities. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA|GO:0021766;hippocampus development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005796;Golgi lumen;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCAN https://www.uniprot.org/uniprot/Q96GW7 https://www.ncbi.nlm.nih.gov/omim/?term=600347 http://www.informatics.jax.org/searchtool/Search.do?query=BCAN&submit=Quick%0D%6724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAN rs1056695 0.374201 0.3390 0.3953 0.15 2 13 exonic exonic exonic BCAN BCAN ENSG00000132692 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV BCAN:NM_198427:exon8:c.G1510A:p.E504K,BCAN:NM_021948:exon8:c.G1510A:p.E504K, BCAN:uc001fpo.3:exon8:c.G1510A:p.E504K,BCAN:uc001fpp.3:exon8:c.G1510A:p.E504K, ENSG00000132692:ENST00000361588:exon8:c.G1510A:p.E504K,ENSG00000132692:ENST00000329117:exon8:c.G1510A:p.E504K, Het;G>A 1315;81|60 Het;G>A 1256;92|64 Hom;G>A 4075;0|153 N N - 1 157567751 157567751 A G snp UTR5 -17T>C FCRL4 ENSG00000163518 Fc receptor like 4 chr1:157543539-157567870 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009] Chronic renal failure|Kidney Failure, Chronic; Stroke; Tobacco Use Disorder GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FCRL4 https://www.ncbi.nlm.nih.gov/omim/?term=605876 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL4&submit=Quick%0D%10993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL4 rs1361889 0.796126 0.7370 0.7766 1 0 0 UTR5 UTR5 UTR5 FCRL4(NM_031282:c.-17T>C) FCRL4(uc001fqw.3:c.-17T>C) ENSG00000163518(ENST00000271532:c.-17T>C) Na Na Na Na Na Na Het;A>G 1432;56|69 Ref Hom;A>G 3999;0|155 N N - 1 158057691 158057691 A C snp intronic KIRREL Kirrel ENSG00000183853 kirre like nephrin family adhesion molecule 1 chr1:157963063-158070052 NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008] Diabetes Mellitus, Type 1|Diabetic Nephropathies; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0007411;axon guidance;TAS|GO:0007588;excretion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031295;T cell costimulation;TAS GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043198;dendritic shaft;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIRREL https://www.ncbi.nlm.nih.gov/omim/?term=607428 http://www.informatics.jax.org/searchtool/Search.do?query=KIRREL&submit=Quick%0D%15096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIRREL rs3820676 0.395168 0.4287 0.3479 1 0 0 intronic intronic intronic KIRREL KIRREL ENSG00000183853 Na Na Na Na Na Na Het;A>C 1579;56|64 Ref Hom;A>C 2571;0|93 N N - 1 158747492 158747492 A G snp upstream OR6N2 Olfr430 ENSG00000188340 olfactory receptor family 6 subfamily N member 2 chr1:158746472-158747425 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Waist Circumference Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR6N2 http://www.informatics.jax.org/searchtool/Search.do?query=OR6N2&submit=Quick%0D%16017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N2 rs857835 0.150958 0 0 1 0 0 upstream upstream upstream OR6N2 OR6N2 ENSG00000188340 Na Na Na Na Na Na Het;A>G 354;5|11 Ref Hom;A>G 628;0|18 N N - 1 158986477 158986477 G C snp nonsynonymous SNV G536C S179T polar,hydrophilic,neutral polar,hydrophilic,neutral IFI16 Pyhin1 ENSG00000163565 interferon gamma inducible protein 16 chr1:158969758-159024945 This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011] Tobacco Use Disorder; Autoimmune Diseases; Blood Proteins; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; ovarian cancer IRF3-mediated induction of type I IFN GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001819;positive regulation of cytokine production;TAS|GO:0002218;activation of innate immune response;IDA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0008283;cell proliferation;NAS|GO:0010506;regulation of autophagy;IEP|GO:0030097;hemopoiesis;NAS|GO:0030099;myeloid cell differentiation;NAS|GO:0030224;monocyte differentiation;IDA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032731;positive regulation of interleukin-1 beta production;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042149;cellular response to glucose starvation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0045824;negative regulation of innate immune response;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051607;defense response to virus;IMP|GO:0071479;cellular response to ionizing radiation;IDA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:0097202;activation of cysteine-type endopeptidase activity;IMP|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/IFI16 https://www.ncbi.nlm.nih.gov/omim/?term=147586 http://www.informatics.jax.org/searchtool/Search.do?query=IFI16&submit=Quick%0D%11011ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI16 rs866484 0.636182 0.6712 0.7286 0.08 1 12 exonic exonic exonic IFI16 IFI16 ENSG00000163565 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV IFI16:NM_005531:exon4:c.G536C:p.S179T, IFI16:uc001ftg.3:exon4:c.G536C:p.S179T,IFI16:uc010pit.2:exon3:c.G536C:p.S179T,IFI16:uc001ftf.1:exon5:c.G536C:p.S179T, ENSG00000163565:ENST00000447473:exon5:c.G536C:p.S179T,ENSG00000163565:ENST00000368131:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000448393:exon3:c.G536C:p.S179T,ENSG00000163565:ENST00000340979:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000474473:exon2:c.G62C:p.S21T,ENSG00000163565:ENST00000295809:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000368132:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000567661:exon2:c.G62C:p.S21T, Het;G>C 3025;121|126 Ref Hom;G>C 7074;0|256 N N - 1 159776366 159776366 G A snp intronic FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs61821626 0.0636981 0.1037 0.0980 1 0 0 intronic intronic intronic FCRL6 FCRL6 ENSG00000181036 Na Na Na Na Na Na Het;G>A 933;43|45 Ref Hom;G>A 2290;0|87 N N - 1 159778572 159778572 A G snp UTR3 *267A>G FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs6656168 0.260383 0 0 1 0 0 intronic UTR3 intronic FCRL6 FCRL6(uc010pix.1:c.*267A>G) ENSG00000181036 Na Na Na Na Na Na Het;A>G 117;4|4 Ref Hom;A>G 191;0|6 N N - 1 159778910 159778910 G A snp nonsynonymous SNV G479A G160D aliphatic,neutral polar,hydrophilic,charged(-) FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs72700615 0.0642971 0.1057 0.0987 0.08 1 13 exonic exonic exonic FCRL6 FCRL6 ENSG00000181036 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FCRL6:NM_001284217:exon5:c.G500A:p.G167D,FCRL6:NM_001004310:exon4:c.G479A:p.G160D, FCRL6:uc009wta.3:exon4:c.G479A:p.G160D,FCRL6:uc001fuc.2:exon5:c.G500A:p.G167D,FCRL6:uc001fud.4:exon4:c.G479A:p.G160D, ENSG00000181036:ENST00000321935:exon5:c.G500A:p.G167D,ENSG00000181036:ENST00000368106:exon4:c.G479A:p.G160D,ENSG00000181036:ENST00000339348:exon4:c.G479A:p.G160D, Het;G>A 3069;159|140 Ref Hom;G>A 7324;0|270 N N - 1 159778983 159778983 T C snp synonymous SNV T573C P191P hydrophobic,neutral hydrophobic,neutral FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs12083967 0.271565 0.2793 0.2157 1 0 0 exonic exonic exonic FCRL6 FCRL6 ENSG00000181036 synonymous SNV synonymous SNV synonymous SNV FCRL6:NM_001284217:exon5:c.T573C:p.P191P,FCRL6:NM_001004310:exon4:c.T552C:p.P184P, FCRL6:uc009wta.3:exon4:c.T552C:p.P184P,FCRL6:uc001fuc.2:exon5:c.T573C:p.P191P,FCRL6:uc001fud.4:exon4:c.T552C:p.P184P, ENSG00000181036:ENST00000321935:exon5:c.T573C:p.P191P,ENSG00000181036:ENST00000368106:exon4:c.T552C:p.P184P,ENSG00000181036:ENST00000339348:exon4:c.T552C:p.P184P, Het;T>C 2019;90|88 Ref Hom;T>C 4774;0|175 N N - 1 159783148 159783148 C T snp intronic FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs55650803 0.232228 0 0 1 0 0 intronic intronic intronic FCRL6 FCRL6 ENSG00000181036 Na Na Na Na Na Na Het;C>T 377;11|13 Ref Hom;C>T 158;0|5 N N - 1 159784141 159784141 G A snp intronic FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs61821659 0.0611022 0.1003 0 1 0 0 intronic intronic intronic FCRL6 FCRL6 ENSG00000181036 Na Na Na Na Na Na Het;G>A 542;21|17 Ref Hom;G>A 1223;0|30 N N - 1 159784160 159784160 T C snp intronic FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs61823160 0.0579073 0 0 1 0 0 intronic intronic intronic FCRL6 FCRL6 ENSG00000181036 Na Na Na Na Na Na Het;T>C 464;17|13 Ref Hom;T>C 1092;0|24 N N - 1 159785413 159785413 C T snp stopgain C1267T Q423X polar,hydrophilic,neutral FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs61823162 0.0577077 0.1008 0.0987 0.25 1 4 exonic exonic exonic FCRL6 FCRL6 ENSG00000181036 stopgain stopgain stopgain FCRL6:NM_001004310:exon10:c.C1267T:p.Q423X, FCRL6:uc001fud.4:exon10:c.C1267T:p.Q423X, ENSG00000181036:ENST00000368106:exon10:c.C1267T:p.Q423X, Het;C>T 999;83|50 Ref Hom;C>T 3265;0|118 N N - 1 159785425 159785425 A G snp nonsynonymous SNV A1279G S427G polar,hydrophilic,neutral aliphatic,neutral FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs4443889 0.253195 0.2787 0.2072 0.08 1 12 exonic exonic exonic FCRL6 FCRL6 ENSG00000181036 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FCRL6:NM_001004310:exon10:c.A1279G:p.S427G, FCRL6:uc001fud.4:exon10:c.A1279G:p.S427G, ENSG00000181036:ENST00000368106:exon10:c.A1279G:p.S427G, Het;A>G 1089;84|53 Ref Hom;A>G 3137;0|116 N N - 1 159785477 159785477 G A snp UTR3 *105G>A FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs61823163 0.0613019 0.1039 0.0997 1 0 0 UTR3 UTR3 UTR3 FCRL6(NM_001284217:c.*105G>A,NM_001004310:c.*26G>A) FCRL6(uc001fuc.2:c.*105G>A,uc001fud.4:c.*26G>A,uc009wsz.1:c.*105G>A,uc009wta.3:c.*105G>A) ENSG00000181036(ENST00000321935:c.*105G>A,ENST00000339348:c.*105G>A) Na Na Na Na Na Na Het;G>A 1195;55|34 Ref Hom;G>A 2440;0|69 N N - 1 159785518 159785518 G C snp UTR3 *146G>C FCRL6 Fcrl6 ENSG00000181036 Fc receptor like 6 chr1:159770301-159786041 GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRL6 https://www.ncbi.nlm.nih.gov/omim/?term=613562 http://www.informatics.jax.org/searchtool/Search.do?query=FCRL6&submit=Quick%0D%14576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRL6 rs61823164 0.0613019 0 0 1 0 0 UTR3 UTR3 UTR3 FCRL6(NM_001284217:c.*146G>C,NM_001004310:c.*67G>C) FCRL6(uc001fuc.2:c.*146G>C,uc001fud.4:c.*67G>C,uc009wsz.1:c.*146G>C,uc009wta.3:c.*146G>C) ENSG00000181036(ENST00000321935:c.*146G>C,ENST00000339348:c.*146G>C) Na Na Na Na Na Na Het;G>C 408;33|20 Ref Hom;G>C 848;0|30 N N - 1 159942456 159942456 C T snp ncRNA_intronic LOC100505633 rs2789424 0.629992 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01133 LOC100505633 ENSG00000224259 Na Na Na Na Na Na Het;C>T 148;1|5 Ref Hom;C>T 134;0|5 N N - 1 159946750 159946750 G GAA indel ncRNA_exonic LINC01133 rs5778142 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01133 LOC100505633 ENSG00000224259 Na Na Na Na Na Na Het;+AA 227;5|7 Ref Hom;+AA 604;0|14 N N - 1 160147148 160147148 A G snp intronic ATP1A4 Atp1a4 ENSG00000132681 ATPase Na+/K+ transporting subunit alpha 4 chr1:160121360-160156767 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Potassium Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007283;spermatogenesis;IEA|GO:0009566;fertilization;IEA|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015991;ATP hydrolysis coupled proton transport;TAS|GO:0030317;flagellated sperm motility;IDA|GO:0030641;regulation of cellular pH;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0042391;regulation of membrane potential;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005890;sodium:potassium-exchanging ATPase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005391;sodium:potassium-exchanging ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP1A4 https://www.uniprot.org/uniprot/Q13733 https://www.ncbi.nlm.nih.gov/omim/?term=607321 http://www.informatics.jax.org/searchtool/Search.do?query=ATP1A4&submit=Quick%0D%6722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP1A4 rs1408664 0.409944 0 0 1 0 0 intronic intronic intronic ATP1A4 ATP1A4 ENSG00000132681 Na Na Na Na Na Na Het;A>G 39;4|2 Ref Hom;A>G 114;0|5 N N - 1 160319055 160319055 T C snp intronic NCSTN Ncstn ENSG00000162736 nicastrin chr1:160313062-160328742 This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014] Alzheimer's disease ; Glucose; Alzheimers disease; memory disturbance; cognitive ability; Alzheimer's disease; Alzheimer's Disease Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. Neutrophil degranulation GO:0002262;myeloid cell homeostasis;IEA|GO:0006508;proteolysis;NAS|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0016485;protein processing;IDA|GO:0031293;membrane protein intracellular domain proteolysis;TAS|GO:0034205;beta-amyloid formation;IMP|GO:0042098;T cell proliferation;IEA|GO:0042982;amyloid precursor protein metabolic process;IDA|GO:0042987;amyloid precursor protein catabolic process;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050435;beta-amyloid metabolic process;IEA|GO:0050673;epithelial cell proliferation;IEA GO:0005765;lysosomal membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042470;melanosome;IEA|GO:0070062;extracellular exosome;IDA|GO:0070765;gamma-secretase complex;IDA GO:0004175;endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCSTN https://hpo.jax.org/app/browse/search?q=NCSTN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605254 http://www.informatics.jax.org/searchtool/Search.do?query=NCSTN&submit=Quick%0D%10786ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCSTN rs12239946 0.149561 0 0 1 0 0 intronic intronic intronic NCSTN NCSTN ENSG00000162736 Na Na Na Na Na Na Het;T>C 363;11|14 Ref Hom;T>C 289;1|11 N N - 1 160319074 160319074 A T snp intronic NCSTN Ncstn ENSG00000162736 nicastrin chr1:160313062-160328742 This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014] Alzheimer's disease ; Glucose; Alzheimers disease; memory disturbance; cognitive ability; Alzheimer's disease; Alzheimer's Disease Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. Neutrophil degranulation GO:0002262;myeloid cell homeostasis;IEA|GO:0006508;proteolysis;NAS|GO:0006509;membrane protein ectodomain proteolysis;IDA|GO:0007219;Notch signaling pathway;TAS|GO:0007220;Notch receptor processing;TAS|GO:0016485;protein processing;IDA|GO:0031293;membrane protein intracellular domain proteolysis;TAS|GO:0034205;beta-amyloid formation;IMP|GO:0042098;T cell proliferation;IEA|GO:0042982;amyloid precursor protein metabolic process;IDA|GO:0042987;amyloid precursor protein catabolic process;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050435;beta-amyloid metabolic process;IEA|GO:0050673;epithelial cell proliferation;IEA GO:0005765;lysosomal membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042470;melanosome;IEA|GO:0070062;extracellular exosome;IDA|GO:0070765;gamma-secretase complex;IDA GO:0004175;endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCSTN https://hpo.jax.org/app/browse/search?q=NCSTN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605254 http://www.informatics.jax.org/searchtool/Search.do?query=NCSTN&submit=Quick%0D%10786ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCSTN rs41266883 0.072484 0 0 1 0 0 intronic intronic intronic NCSTN NCSTN ENSG00000162736 Na Na Na Na Na Na Het;A>T 160;9|7 Ref Hom;A>T 160;0|6 N N - 1 160582213 160582213 C A snp intronic SLAMF1 Slamf1 ENSG00000117090 signaling lymphocytic activation molecule family member 1 chr1:160577890-160617085 lung cancer ; lung cancer; Schizophrenia; chronic obstructive pulmonary disease; bladder cancer; Tobacco Use Disorder; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; EBV-associated lymphoproliferative disease Homozygous null mice are fertile and display impaired T cell and macrophage cytokine production. GO:0001779;natural killer cell differentiation;IEA|GO:0001787;natural killer cell proliferation;IEA|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002250;adaptive immune response;IEA|GO:0002277;myeloid dendritic cell activation involved in immune response;IDA|GO:0002376;immune system process;IEA|GO:0002725;negative regulation of T cell cytokine production;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0016032;viral process;IEA|GO:0031338;regulation of vesicle fusion;IEA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0035744;T-helper 1 cell cytokine production;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0046649;lymphocyte activation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1902714;negative regulation of interferon-gamma secretion;IEA|GO:1902715;positive regulation of interferon-gamma secretion;IEA|GO:2000349;negative regulation of CD40 signaling pathway;IDA|GO:2000510;positive regulation of dendritic cell chemotaxis;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045335;phagocytic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0003823;antigen binding;TAS|GO:0004872;receptor activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLAMF1 https://www.uniprot.org/uniprot/Q13291 https://www.ncbi.nlm.nih.gov/omim/?term=603492 http://www.informatics.jax.org/searchtool/Search.do?query=SLAMF1&submit=Quick%0D%4833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLAMF1 rs2025515 0.400359 0 0 1 0 0 intronic intronic intronic SLAMF1 SLAMF1 ENSG00000117090 Na Na Na Na Na Na Het;C>A 235;10|12 Het;C>A 138;9|7 Hom;C>A 485;0|16 N N - 1 160582248 160582248 C G snp intronic SLAMF1 Slamf1 ENSG00000117090 signaling lymphocytic activation molecule family member 1 chr1:160577890-160617085 lung cancer ; lung cancer; Schizophrenia; chronic obstructive pulmonary disease; bladder cancer; Tobacco Use Disorder; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; EBV-associated lymphoproliferative disease Homozygous null mice are fertile and display impaired T cell and macrophage cytokine production. GO:0001779;natural killer cell differentiation;IEA|GO:0001787;natural killer cell proliferation;IEA|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002250;adaptive immune response;IEA|GO:0002277;myeloid dendritic cell activation involved in immune response;IDA|GO:0002376;immune system process;IEA|GO:0002725;negative regulation of T cell cytokine production;IEA|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010759;positive regulation of macrophage chemotaxis;IEA|GO:0016032;viral process;IEA|GO:0031338;regulation of vesicle fusion;IEA|GO:0032695;negative regulation of interleukin-12 production;IDA|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0035744;T-helper 1 cell cytokine production;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0045087;innate immune response;IEA|GO:0046330;positive regulation of JNK cascade;IDA|GO:0046649;lymphocyte activation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1902714;negative regulation of interferon-gamma secretion;IEA|GO:1902715;positive regulation of interferon-gamma secretion;IEA|GO:2000349;negative regulation of CD40 signaling pathway;IDA|GO:2000510;positive regulation of dendritic cell chemotaxis;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045335;phagocytic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0003823;antigen binding;TAS|GO:0004872;receptor activity;IEA|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLAMF1 https://www.uniprot.org/uniprot/Q13291 https://www.ncbi.nlm.nih.gov/omim/?term=603492 http://www.informatics.jax.org/searchtool/Search.do?query=SLAMF1&submit=Quick%0D%4833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLAMF1 rs11265449 0.400359 0.3462 0.4769 1 0 0 intronic intronic intronic SLAMF1 SLAMF1 ENSG00000117090 Na Na Na Na Na Na Het;C>G 466;22|20 Het;C>G 283;23|15 Hom;C>G 1144;0|34 N N - 1 160640680 160640680 A T snp ncRNA_exonic AL121985.1 rs72708882 0.0249601 0 0 1 0 0 intergenic intergenic ncRNA_exonic SLAMF1(dist=23579),CD48(dist=7856) SLAMF1(dist=23599),CD48(dist=7856) ENSG00000228863,ENSG00000235101 Na Na Na Na Na Na Het;A>T 78;6|5 Ref Hom;A>T 100;0|4 N N - 1 161681661 161681661 C G snp nonsynonymous SNV C71G P24R hydrophobic,neutral polar,hydrophilic,charged(+) FCRLA Fcrla ENSG00000132185 Fc receptor like A chr1:161676762-161684142 This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Cholesterol, HDL; Neuroblastoma Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells. GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/FCRLA https://www.uniprot.org/uniprot/Q7L513 https://www.ncbi.nlm.nih.gov/omim/?term=606891 http://www.informatics.jax.org/searchtool/Search.do?query=FCRLA&submit=Quick%0D%6633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRLA rs1105238 0.449081 0 0 1 0 0 intronic exonic intronic FCRLA FCRLA ENSG00000132185 Na nonsynonymous SNV Na Na FCRLA:uc031prb.1:exon2:c.C71G:p.P24R, Na Het;C>G 288;20|11 Ref Hom;C>G 494;0|16 N N - 1 161681780 161681780 A G snp nonsynonymous SNV A190G S64G polar,hydrophilic,neutral aliphatic,neutral FCRLA Fcrla ENSG00000132185 Fc receptor like A chr1:161676762-161684142 This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Cholesterol, HDL; Neuroblastoma Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells. GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/FCRLA https://www.uniprot.org/uniprot/Q7L513 https://www.ncbi.nlm.nih.gov/omim/?term=606891 http://www.informatics.jax.org/searchtool/Search.do?query=FCRLA&submit=Quick%0D%6633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRLA rs2275603 0.477037 0.3679 0.3139 0.15 2 13 exonic exonic exonic FCRLA FCRLA ENSG00000132185 nonsynonymous SNV nonsynonymous SNV unknown FCRLA:NM_001184867:exon3:c.A340G:p.S114G,FCRLA:NM_032738:exon4:c.A607G:p.S203G,FCRLA:NM_001184870:exon3:c.A205G:p.S69G,FCRLA:NM_001184872:exon2:c.A187G:p.S63G,FCRLA:NM_001184866:exon5:c.A625G:p.S209G, FCRLA:uc031prb.1:exon2:c.A190G:p.S64G,FCRLA:uc001gbd.3:exon4:c.A607G:p.S203G,FCRLA:uc009wuo.3:exon3:c.A205G:p.S69G,FCRLA:uc001gbg.3:exon2:c.A187G:p.S63G,FCRLA:uc001gbe.3:exon5:c.A625G:p.S209G,FCRLA:uc001gbf.3:exon3:c.A340G:p.S114G, UNKNOWN Het;A>G 1051;82|50 Ref Hom;A>G 3894;2|144 N N - 1 161697072 161697072 G C snp nonsynonymous SNV G797C S266T polar,hydrophilic,neutral polar,hydrophilic,neutral FCRLB Fcrlb ENSG00000162746 Fc receptor like B chr1:161691353-161697933 FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008] Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Neuroblastoma Mice homozygous for a knock-out allele exhibit an enhanced antibody response to a T-dependent antigen. GO:0050777;negative regulation of immune response;IEA GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCRLB https://www.ncbi.nlm.nih.gov/omim/?term=609251 http://www.informatics.jax.org/searchtool/Search.do?query=FCRLB&submit=Quick%0D%10790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCRLB rs72704099 0.3125 0.2365 0.1548 0.23 3 13 exonic exonic exonic FCRLB FCRLB ENSG00000162746 nonsynonymous SNV nonsynonymous SNV unknown FCRLB:NM_001288832:exon5:c.G776C:p.S259T,FCRLB:NM_001288830:exon5:c.G735C:p.Q245H,FCRLB:NM_001002901:exon8:c.G901C:p.A301P,FCRLB:NM_001288831:exon6:c.G797C:p.S266T,FCRLB:NM_001288829:exon6:c.G756C:p.Q252H, FCRLB:uc001gbk.3:exon6:c.G797C:p.S266T,FCRLB:uc009wus.3:exon7:c.G901C:p.A301P,FCRLB:uc001gbm.3:exon5:c.G776C:p.S259T,FCRLB:uc001gbl.3:exon5:c.G735C:p.Q245H,FCRLB:uc001gbh.3:exon8:c.G901C:p.A301P,FCRLB:uc001gbi.3:exon6:c.G901C:p.A301P,FCRLB:uc001gbj.3:exon6:c.G756C:p.Q252H,FCRLB:uc001gbn.4:exon2:c.G908C:p.S303T, UNKNOWN Het;G>C 1103;62|45 Ref Hom;G>C 2096;1|71 N N - 1 161721707 161721707 C T snp synonymous SNV C510T Y170Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic DUSP12 Dusp12 ENSG00000081721 dual specificity phosphatase 12 chr1:161719548-161727028 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008] Neuroblastoma; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2 GO:0006464;cellular protein modification process;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IDA|GO:0033133;positive regulation of glucokinase activity;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0003676;nucleic acid binding;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0019900;kinase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DUSP12 https://www.uniprot.org/uniprot/Q9UNI6 https://www.ncbi.nlm.nih.gov/omim/?term=604835 http://www.informatics.jax.org/searchtool/Search.do?query=DUSP12&submit=Quick%0D%1776ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP12 rs1063178 0.360024 0.3540 0.3399 1 0 0 exonic exonic exonic DUSP12 DUSP12 ENSG00000081721 synonymous SNV synonymous SNV unknown DUSP12:NM_007240:exon3:c.C510T:p.Y170Y, DUSP12:uc001gbo.3:exon3:c.C510T:p.Y170Y, UNKNOWN Het;C>T 2595;142|118 Het;C>T 2032;131|100 Hom;C>T 5530;0|211 N N - 1 162177522 162177522 C T snp intronic NOS1AP Nos1ap ENSG00000198929 nitric oxide synthase 1 adaptor protein chr1:162039564-162353321 This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009] QT interval prolongation; Arrhythmias, Cardiac|Death, Sudden|Long QT Syndrome; Lipids; cardiac repolarization; Schizophrenia; Electrocardiographic traits ; Diabetes Mellitus, Type 2; Platelet Aggregation; Arrhythmias, Cardiac|Long QT Syndrome; Bipolar Disorder; Type 2 Diabetes| edema | rosiglitazone; Death, Sudden, Cardiac|Heart Diseases; Psychiatric Disorders; schizophrenia; cardiac death QT interval; Long QT Syndrome; Death, Sudden, Cardiac; atherosclerosis; sudden cardiac death; diabetes, type 2; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome; null; QT interval; Type 2 diabetes; Cardiovascular Diseases; Tobacco Use Disorder; Electrocardiography; QT interval|Type 2 diabetes; Diabetes Mellitus, Type 2|Diabetic Angiopathies|Long QT Syndrome|Myocardial Infarction; Sudden Infant Death; Diabetes Mellitus; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; Neutrophils Mice homozygous for a knock-out allele exhibit oxidative stress induced ventricular arrhythmia and increased induced mortality associated with impairment cardiac function. GO:0003062;regulation of heart rate by chemical signal;IMP|GO:0010628;positive regulation of gene expression;ISS|GO:0010750;positive regulation of nitric oxide mediated signal transduction;ISS|GO:0042981;regulation of apoptotic process;NAS|GO:0045428;regulation of nitric oxide biosynthetic process;NAS|GO:0045429;positive regulation of nitric oxide biosynthetic process;ISS|GO:0050999;regulation of nitric-oxide synthase activity;NAS|GO:0051000;positive regulation of nitric-oxide synthase activity;ISS|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0098901;regulation of cardiac muscle cell action potential;ISS|GO:1901381;positive regulation of potassium ion transmembrane transport;ISS|GO:1901841;regulation of high voltage-gated calcium channel activity;ISS|GO:1902261;positive regulation of delayed rectifier potassium channel activity;ISS|GO:1902514;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:1903762;positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;ISS|GO:2000170;positive regulation of peptidyl-cysteine S-nitrosylation;ISS GO:0005634;nucleus;ISS|GO:0005739;mitochondrion;ISS|GO:0005829;cytosol;ISS|GO:0005901;caveola;ISS|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0031965;nuclear membrane;ISS|GO:0033017;sarcoplasmic reticulum membrane;ISS|GO:0042383;sarcolemma;ISS|GO:0048471;perinuclear region of cytoplasm;ISS|GO:1902937;inward rectifier potassium channel complex;ISS|GO:1990454;L-type voltage-gated calcium channel complex;ISS GO:0005515;protein binding;IPI|GO:0050998;nitric-oxide synthase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NOS1AP https://www.ncbi.nlm.nih.gov/omim/?term=605551 http://www.informatics.jax.org/searchtool/Search.do?query=NOS1AP&submit=Quick%0D%17084ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOS1AP rs4233386 0.817292 0 0 1 0 0 intronic intronic intronic NOS1AP NOS1AP ENSG00000198929 Na Na Na Na Na Na Het;C>T 973;81|51 Het;C>T 1165;67|58 Hom;C>T 3181;0|118 N N - 1 162557578 162557578 C T snp intronic UAP1 Uap1 ENSG00000117143 UDP-N-acetylglucosamine pyrophosphorylase 1 chr1:162531323-162569627 Glucose; Hypertension Synthesis of UDP-N-acetyl-glucosamine GO:0006047;UDP-N-acetylglucosamine metabolic process;IEA|GO:0006048;UDP-N-acetylglucosamine biosynthetic process;TAS|GO:0008152;metabolic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA GO:0003977;UDP-N-acetylglucosamine diphosphorylase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0070569;uridylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UAP1 https://www.uniprot.org/uniprot/Q16222 https://www.ncbi.nlm.nih.gov/omim/?term=602862 http://www.informatics.jax.org/searchtool/Search.do?query=UAP1&submit=Quick%0D%4841ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UAP1 rs41271987 0.0738818 0 0 1 0 0 intronic intronic intronic UAP1 UAP1 ENSG00000117143 Na Na Na Na Na Na Het;C>T 196;8|8 Ref Hom;C>T 631;0|19 N N - 1 162558705 162558705 C T snp intronic UAP1 Uap1 ENSG00000117143 UDP-N-acetylglucosamine pyrophosphorylase 1 chr1:162531323-162569627 Glucose; Hypertension Synthesis of UDP-N-acetyl-glucosamine GO:0006047;UDP-N-acetylglucosamine metabolic process;IEA|GO:0006048;UDP-N-acetylglucosamine biosynthetic process;TAS|GO:0008152;metabolic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA GO:0003977;UDP-N-acetylglucosamine diphosphorylase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042802;identical protein binding;IPI|GO:0070569;uridylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UAP1 https://www.uniprot.org/uniprot/Q16222 https://www.ncbi.nlm.nih.gov/omim/?term=602862 http://www.informatics.jax.org/searchtool/Search.do?query=UAP1&submit=Quick%0D%4841ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UAP1 rs12022205 0.228435 0 0 1 0 0 intronic intronic intronic UAP1 UAP1 ENSG00000117143 Na Na Na Na Na Na Het;C>T 727;44|33 Ref Hom;C>T 1870;2|66 N N - 1 163291453 163291453 T G snp ncRNA_exonic RGS5 Rgs5 ENSG00000143248 regulator of G protein signaling 5 chr1:163080911-163291577 This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011] bladder cancer; chronic obstructive pulmonary disease; lung cancer; Schizophrenia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Bipolar Disorder; Tunica Media; Heart Failure; Hypertension; lung cancer ; esophageal adenocarcinoma; Erythrocyte Count; Tobacco Use Disorder Mice homozygous for a targeted mutation appear normal. G alpha (i) signalling events GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RGS5 https://www.uniprot.org/uniprot/O15539 https://www.ncbi.nlm.nih.gov/omim/?term=603276 http://www.informatics.jax.org/searchtool/Search.do?query=RGS5&submit=Quick%0D%8397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS5 rs78066836 0.0395367 0 0 1 0 0 UTR5 UTR5 ncRNA_exonic RGS5(NM_001254748:c.-169054A>C) RGS5(uc021pdu.1:c.-169054A>C) ENSG00000232995 Na Na Na Na Na Na Het;T>G 2550;98|105 Ref Hom;T>G 5102;3|180 N N - 1 165623355 165623355 C T snp intronic MGST3 Mgst3 ENSG00000143198 microsomal glutathione S-transferase 3 chr1:165600098-165631033 This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011] diabetes, type 2; Hypertension; Tobacco Use Disorder; Alzheimer Disease; drug-related genes ; Osteoporosis Aflatoxin activation and detoxification GO:0006629;lipid metabolic process;TAS|GO:0006805;xenobiotic metabolic process;TAS|GO:0007165;signal transduction;TAS|GO:0010243;response to organonitrogen compound;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS GO:0005635;nuclear envelope;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA GO:0004364;glutathione transferase activity;TAS|GO:0004601;peroxidase activity;TAS|GO:0004602;glutathione peroxidase activity;IBA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGST3 https://www.uniprot.org/uniprot/O14880 https://www.ncbi.nlm.nih.gov/omim/?term=604564 http://www.informatics.jax.org/searchtool/Search.do?query=MGST3&submit=Quick%0D%8389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGST3 rs4147603 0.421725 0 0 1 0 0 intronic intronic intronic MGST3 MGST3 ENSG00000143198 Na Na Na Na Na Na Het;C>T 114;4|4 Het;C>T 106;5|4 Hom;C>T 139;0|4 N N - 1 166486005 166486005 A G snp intergenic FAM78B Fam78b ENSG00000188859 family with sequence similarity 78 member B chr1:166026674-166136206 Echocardiography; Osteoporosis; Arteries; Calcium; Alkaline Phosphatase; Cholesterol; Cholesterol, LDL; Lipoproteins, VLDL; Erythrocyte Indices; Neuroblastoma; Hypertension http://www.genecards.org/index.php?path=/Search/keyword/FAM78B http://www.informatics.jax.org/searchtool/Search.do?query=FAM78B&submit=Quick%0D%16127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM78B rs6659985 0.447085 0 0 1 0 0 intergenic intergenic intergenic FAM78B(dist=350047),FMO9P(dist=87148) FAM78B(dist=350047),FMO9P(dist=87148) ENSG00000234142(dist=26729),ENSG00000238087(dist=49410) Na Na Na Na Na Na Het;A>G 292;17|13 Ref Hom;A>G 808;0|30 N N - 1 166644487 166644487 G A snp ncRNA_exonic FMO10P rs12082938 0.554313 0 0 1 0 0 intergenic intergenic ncRNA_exonic FMO9P(dist=50014),POGK(dist=164237) FMO9P(dist=50014),POGK(dist=164237) ENSG00000234984 Na Na Na Na Na Na Het;G>A 118;17|8 Het;G>A 86;32|9 Hom;G>A 833;0|32 N N - 1 166693545 166693545 T C snp intergenic FMO9P rs1855834 0.421925 0 0 1 0 0 intergenic intergenic intergenic FMO9P(dist=99072),POGK(dist=115179) FMO9P(dist=99072),POGK(dist=115179) ENSG00000234984(dist=42112),ENSG00000232341(dist=23071) Na Na Na Na Na Na Het;T>C 245;21|15 Het;T>C 496;12|24 Hom;T>C 1272;0|49 N N - 1 166829320 166829320 C CT indel intronic TADA1 Tada1 ENSG00000152382 transcriptional adaptor 1 chr1:166825747-166845564 TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] diabetes, type 1 ; Hypertension; Osteoporosis HATs acetylate histones GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TADA1 https://www.uniprot.org/uniprot/Q96BN2 https://www.ncbi.nlm.nih.gov/omim/?term=612763 http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1 rs3215444 0.355431 0 0 1 0 0 intronic intronic intronic TADA1 TADA1 ENSG00000152382 Na Na Na Na Na Na Het;+T 119;12|6 Ref Hom;+T 174;0|5 N N - 1 166831404 166831404 A C snp intronic TADA1 Tada1 ENSG00000152382 transcriptional adaptor 1 chr1:166825747-166845564 TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] diabetes, type 1 ; Hypertension; Osteoporosis HATs acetylate histones GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TADA1 https://www.uniprot.org/uniprot/Q96BN2 https://www.ncbi.nlm.nih.gov/omim/?term=612763 http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1 rs2075947 0.353834 0.3802 0.3578 1 0 0 intronic intronic intronic TADA1 TADA1 ENSG00000152382 Na Na Na Na Na Na Het;A>C 1095;53|44 Ref Hom;A>C 2407;0|86 N N - 1 166831703 166831703 C CA indel UTR5 -150G>TG TADA1 Tada1 ENSG00000152382 transcriptional adaptor 1 chr1:166825747-166845564 TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] diabetes, type 1 ; Hypertension; Osteoporosis HATs acetylate histones GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TADA1 https://www.uniprot.org/uniprot/Q96BN2 https://www.ncbi.nlm.nih.gov/omim/?term=612763 http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1 rs35181816 0.353834 0 0 1 0 0 intronic UTR5 intronic TADA1 TADA1(uc001gdv.3:c.-150G>TG) ENSG00000152382 Na Na Na Na Na Na Het;+A 575;9|22 Ref Hom;+A 461;0|15 N N - 1 166833199 166833199 C A snp intronic TADA1 Tada1 ENSG00000152382 transcriptional adaptor 1 chr1:166825747-166845564 TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] diabetes, type 1 ; Hypertension; Osteoporosis HATs acetylate histones GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0043966;histone H3 acetylation;IDA GO:0000124;SAGA complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IDA|GO:0030914;STAGA complex;IDA|GO:0070461;SAGA-type complex;IEA GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TADA1 https://www.uniprot.org/uniprot/Q96BN2 https://www.ncbi.nlm.nih.gov/omim/?term=612763 http://www.informatics.jax.org/searchtool/Search.do?query=TADA1&submit=Quick%0D%9540ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TADA1 rs2272793 0.353235 0.3780 0.3572 1 0 0 intronic intronic intronic TADA1 TADA1 ENSG00000152382 Na Na Na Na Na Na Het;C>A 800;37|38 Ref Hom;C>A 2157;0|78 N N - 1 166899807 166899807 T C snp intronic ILDR2 Ildr2 ENSG00000143195 immunoglobulin like domain containing receptor 2 chr1:166882443-166944719 Erythrocyte Count; Hypertension; Hemoglobins; Osteoporosis; Tobacco Use Disorder Mice homozygous for an ENU-induced stop mutation at threonine-87 display a reduced pancreatic beta-cell replication rate, decreased beta-cell mass, reduced insulin/glucose ratio in blood, impaired glucose tolerance, and persistent mild hypoinsulinemia. GO:0009749;response to glucose;IEA|GO:0030073;insulin secretion;IEA|GO:0030154;cell differentiation;IEA|GO:0031016;pancreas development;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ILDR2 https://www.uniprot.org/uniprot/Q71H61 http://www.informatics.jax.org/searchtool/Search.do?query=ILDR2&submit=Quick%0D%8387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ILDR2 rs2013526 0.526757 0 0 1 0 0 intronic intronic intronic ILDR2 ILDR2 ENSG00000143195 Na Na Na Na Na Na Het;T>C 474;16|19 Ref Hom;T>C 950;0|34 N N - 1 166961857 166961857 G A snp intronic MAEL Mael ENSG00000143194 maelstrom spermatogenic transposon silencer chr1:166958346-166991451 Hypertension; Tobacco Use Disorder; Hemoglobins; Erythrocyte Count; Osteoporosis Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis. PIWI-interacting RNA (piRNA) biogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007140;male meiotic nuclear division;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IBA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009566;fertilization;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;IBA|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IBA|GO:0046620;regulation of organ growth;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000785;chromatin;IEA|GO:0001741;XY body;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0030849;autosome;IEA|GO:0033391;chromatoid body;IEA|GO:0043186;P granule;IBA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071547;piP-body;ISS GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MAEL https://www.uniprot.org/uniprot/Q96JY0 https://www.ncbi.nlm.nih.gov/omim/?term=611368 http://www.informatics.jax.org/searchtool/Search.do?query=MAEL&submit=Quick%0D%8386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAEL rs7511933 0.292332 0 0 1 0 0 intronic intronic intronic MAEL MAEL ENSG00000143194 Na Na Na Na Na Na Het;G>A 247;5|10 Ref Hom;G>A 386;0|11 N N - 1 166963234 166963234 T C snp intronic MAEL Mael ENSG00000143194 maelstrom spermatogenic transposon silencer chr1:166958346-166991451 Hypertension; Tobacco Use Disorder; Hemoglobins; Erythrocyte Count; Osteoporosis Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis. PIWI-interacting RNA (piRNA) biogenesis GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007129;synapsis;IEA|GO:0007140;male meiotic nuclear division;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IBA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0009566;fertilization;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;IBA|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IBA|GO:0046620;regulation of organ growth;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000785;chromatin;IEA|GO:0001741;XY body;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0030849;autosome;IEA|GO:0033391;chromatoid body;IEA|GO:0043186;P granule;IBA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0071547;piP-body;ISS GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MAEL https://www.uniprot.org/uniprot/Q96JY0 https://www.ncbi.nlm.nih.gov/omim/?term=611368 http://www.informatics.jax.org/searchtool/Search.do?query=MAEL&submit=Quick%0D%8386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAEL rs3736988 0.38119 0.4349 0.3667 1 0 0 intronic intronic intronic MAEL MAEL ENSG00000143194 Na Na Na Na Na Na Het;T>C 658;23|30 Ref Hom;T>C 2708;0|94 N N - 1 167385178 167385178 G GA indel UTR3 *131G>GA POU2F1 Pou2f1 ENSG00000143190 POU class 2 homeobox 1 chr1:167190066-167396582 The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010] plasma levels of liver enzymes; Osteoporosis; Erythrocyte Count; Type 2 diabetes; Tobacco Use Disorder; Alzheimer's Disease; Celiac Disease|; Crohn Disease|Crohn's disease; Colitis, Ulcerative|Crohn Disease|; null; Hypertension; Crohn Disease|Rectal Fistula Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size. RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IC|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005783;endoplasmic reticulum;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0090575;RNA polymerase II transcription factor complex;IMP GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IMP|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IMP|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/POU2F1 https://www.uniprot.org/uniprot/P14859 https://www.ncbi.nlm.nih.gov/omim/?term=164175 http://www.informatics.jax.org/searchtool/Search.do?query=POU2F1&submit=Quick%0D%8385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POU2F1 rs35216157 0 0 0 1 0 0 UTR3 UTR3 UTR3 POU2F1(NM_002697:c.*131G>GA,NM_001198786:c.*131G>GA,NM_001198783:c.*131G>GA) POU2F1(uc001gec.3:c.*131G>GA,uc001gee.3:c.*131G>GA,uc010plh.2:c.*131G>GA,uc001ged.3:c.*131G>GA,uc001gef.3:c.*131G>GA) ENSG00000143190(ENST00000367866:c.*131G>GA,ENST00000271411:c.*2359G>GA,ENST00000541643:c.*131G>GA,ENST00000367862:c.*131G>GA) Na Na Na Na Na Na Het;+A 416;8|23 Ref Hom;+A 461;3|26 N N - 1 168510122 168510122 T A snp UTR3 *68A>T XCL2 ENSG00000143185 X-C motif chemokine ligand 2 chr1:168510003-168513235 Mice homozygous for a knock-out allele exhibit decreased stimulated cytotoxic T cell cytolysis. G alpha (q) signalling events GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0008015;blood circulation;TAS|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS|GO:0048020;CCR chemokine receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/XCL2 https://www.uniprot.org/uniprot/Q9UBD3 https://www.ncbi.nlm.nih.gov/omim/?term=604828 http://www.informatics.jax.org/searchtool/Search.do?query=XCL2&submit=Quick%0D%8384ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XCL2 rs470733 0.627596 0 0 1 0 0 UTR3 UTR3 UTR3 XCL2(NM_003175:c.*68A>T) XCL2(uc001gfn.4:c.*68A>T) ENSG00000143185(ENST00000367819:c.*68A>T) Na Na Na Na Na Na Het;T>A 506;21|20 Het;T>A 227;29|12 Hom;T>A 1140;1|37 N N - 1 168511155 168511155 T C snp intronic XCL2 ENSG00000143185 X-C motif chemokine ligand 2 chr1:168510003-168513235 Mice homozygous for a knock-out allele exhibit decreased stimulated cytotoxic T cell cytolysis. G alpha (q) signalling events GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0008015;blood circulation;TAS|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS|GO:0048020;CCR chemokine receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/XCL2 https://www.uniprot.org/uniprot/Q9UBD3 https://www.ncbi.nlm.nih.gov/omim/?term=604828 http://www.informatics.jax.org/searchtool/Search.do?query=XCL2&submit=Quick%0D%8384ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XCL2 rs76400946 0.661741 0 0 1 0 0 intronic intronic intronic XCL2 XCL2 ENSG00000143185 Na Na Na Na Na Na Het;T>C 387;21|16 Het;T>C 250;12|11 Hom;T>C 1016;0|33 N N - 1 168670213 168670213 T C snp intronic DPT Dpt ENSG00000143196 dermatopontin chr1:168664697-168698502 Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008] Waist Circumference; Cardiovascular Diseases; Hypertension; morbidity-free survival; Osteoporosis Homozygotes for a targeted null mutation exhibit skin with increased elasticity, decreased thickness, and reduced collagen content, and possess more subcutaneous adipose tissue. Corneal thickness is reduced as well. GO:0007155;cell adhesion;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0030199;collagen fibril organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/DPT https://www.uniprot.org/uniprot/Q07507 https://www.ncbi.nlm.nih.gov/omim/?term=125597 http://www.informatics.jax.org/searchtool/Search.do?query=DPT&submit=Quick%0D%8388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPT rs116690380 0.0231629 0.0330 0.0232 1 0 0 intronic intronic intronic DPT DPT ENSG00000143196 Na Na Na Na Na Na Het;T>C 121;9|5 Ref Hom;T>C 574;2|19 N N - 1 169272451 169272451 A T snp intronic NME7 Nme7 ENSG00000143156 NME/NM23 family member 7 chr1:169101769-169337205 This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] fibrin fragment D; Celiac Disease|; Osteoporosis; Hypertension; Tobacco Use Disorder; Stroke Homozygous mice exhibit hydrocephaly, domed skulls and 50% exhibit situs inversus. Interconversion of nucleotide di- and triphosphates GO:0006165;nucleoside diphosphate phosphorylation;IEA|GO:0006183;GTP biosynthetic process;IEA|GO:0006228;UTP biosynthetic process;IEA|GO:0006241;CTP biosynthetic process;IEA|GO:0009117;nucleotide metabolic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004550;nucleoside diphosphate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NME7 https://www.uniprot.org/uniprot/Q9Y5B8 https://www.ncbi.nlm.nih.gov/omim/?term=613465 http://www.informatics.jax.org/searchtool/Search.do?query=NME7&submit=Quick%0D%8373ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NME7 rs10800427 0.982029 0.9624 0.9608 1 0 0 intronic intronic intronic NME7 NME7 ENSG00000143156 Na Na Na Na Na Na Het;A>T 265;42|10 Het;A>T 512;16|14 Hom;A>T 1808;0|41 N N - 1 169272453 169272453 G A snp intronic NME7 Nme7 ENSG00000143156 NME/NM23 family member 7 chr1:169101769-169337205 This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] fibrin fragment D; Celiac Disease|; Osteoporosis; Hypertension; Tobacco Use Disorder; Stroke Homozygous mice exhibit hydrocephaly, domed skulls and 50% exhibit situs inversus. Interconversion of nucleotide di- and triphosphates GO:0006165;nucleoside diphosphate phosphorylation;IEA|GO:0006183;GTP biosynthetic process;IEA|GO:0006228;UTP biosynthetic process;IEA|GO:0006241;CTP biosynthetic process;IEA|GO:0009117;nucleotide metabolic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004550;nucleoside diphosphate kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NME7 https://www.uniprot.org/uniprot/Q9Y5B8 https://www.ncbi.nlm.nih.gov/omim/?term=613465 http://www.informatics.jax.org/searchtool/Search.do?query=NME7&submit=Quick%0D%8373ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NME7 rs10800428 0.982827 0.9626 0.9607 1 0 0 intronic intronic intronic NME7 NME7 ENSG00000143156 Na Na Na Na Na Na Het;G>A 265;42|10 Het;G>A 512;16|14 Hom;G>A 1808;0|40 N N - 1 169481121 169481121 T A snp downstream F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs6427194 0.91254 0 0 1 0 0 downstream downstream intergenic F5 F5 ENSG00000213062(dist=24275),ENSG00000198734(dist=2283) Na Na Na Na Na Na Het;T>A 167;10|7 Het;T>A 384;6|15 Hom;T>A 419;0|13 N N - 1 169481176 169481176 A T snp downstream F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs6427195 0.91254 0 0 1 0 0 downstream downstream intergenic F5 F5 ENSG00000213062(dist=24330),ENSG00000198734(dist=2228) Na Na Na Na Na Na Het;A>T 338;23|18 Het;A>T 746;32|35 Hom;A>T 1954;0|72 N N - 1 169481223 169481223 C G snp UTR3 *2328G>C F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs6427196 0.91234 0 0 1 0 0 UTR3 UTR3 intergenic F5(NM_000130:c.*2328G>C) F5(uc001ggg.1:c.*2328G>C) ENSG00000213062(dist=24377),ENSG00000198734(dist=2181) Na Na Na Na Na Na Het;C>G 385;42|23 Het;C>G 995;66|51 Hom;C>G 2723;0|105 N N - 1 16948474 16948474 C G snp ncRNA_intronic CROCCP2 rs2781579 0.746206 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CROCCP2 CROCCP2 ENSG00000215908 Na Na Na Na Na Na Het;C>G 12906;55|385 Het;C>G 12623;51|364 Hom;C>G 11292;41|352 N N - 1 169498834 169498834 T C snp intronic F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs6009 0.936302 0.9163 0.9326 1 0 0 intronic intronic intronic F5 F5 ENSG00000198734 Na Na Na Na Na Na Het;T>C 1200;46|48 Het;T>C 1045;44|44 Hom;T>C 2800;0|97 N N - 1 16971866 16971866 G T snp upstream CROCCP2 rs2224812 0.721645 0 0 1 0 0 upstream upstream upstream MST1P2 CROCCP2,FLJ00313,MST1P2 ENSG00000186301,ENSG00000215908 Na Na Na Na Na Na Het;G>T 418;2|12 Het;G>T 218;4|7 Hom;G>T 370;0|10 N N - 1 169947146 169947146 C CA indel intronic KIFAP3 Kifap3 ENSG00000075945 kinesin associated protein 3 chr1:169890467-170054349 The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Amyotrophic lateral sclerosis; prostate cancer; Amyotrophic Lateral Sclerosis; Osteoporosis About 70% of homozygotes for a knock-out mutation die of heart failure shortly after birth due to massive cardiomyocyte apoptosis triggered by cardiovascular overload. Neonatal thymocytes and developing neuronal cells undergo apoptosis while cultured thymocytes are susceptible to apoptotic inducers. Kinesins GO:0006461;protein complex assembly;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007017;microtubule-based process;IEA|GO:0007018;microtubule-based movement;TAS|GO:0007165;signal transduction;TAS|GO:0008104;protein localization;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0046587;positive regulation of calcium-dependent cell-cell adhesion;IEA|GO:0072383;plus-end-directed vesicle transport along microtubule;TAS GO:0000794;condensed nuclear chromosome;IDA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005871;kinesin complex;IEA|GO:0005876;spindle microtubule;IDA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016939;kinesin II complex;IDA|GO:0030990;intraciliary transport particle;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:1990075;periciliary membrane compartment;IEA GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIFAP3 https://www.uniprot.org/uniprot/Q92845 https://www.ncbi.nlm.nih.gov/omim/?term=601836 http://www.informatics.jax.org/searchtool/Search.do?query=KIFAP3&submit=Quick%0D%1569ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIFAP3 rs11396984 0.697883 0 0 1 0 0 intronic intronic intronic KIFAP3 KIFAP3 ENSG00000075945 Na Na Na Na Na Na Het;+A 243;14|14 Het;+A 334;22|19 Hom;+A 771;3|33 N N - 1 17030849 17030849 C T snp ncRNA_intronic ESPNP rs4661411 0 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic ESPNP ESPNP ENSG00000268869 Na Na Na Na Na Na Het;C>T 90;6|4 Ref Hom;C>T 71;0|4 N N - 1 17031276 17031276 T C snp ncRNA_intronic ESPNP rs11260892 0 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic ESPNP ESPNP ENSG00000268869 Na Na Na Na Na Na Het;T>C 87;5|6 Ref Hom;T>C 71;0|4 N N - 1 170522667 170522667 T A snp UTR3 *1064T>A GORAB Gorab ENSG00000120370 golgin, RAB6 interacting chr1:170501270-170522587 This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] GERODERMA OSTEODYSPLASTICUM Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. GO:0031069;hair follicle morphogenesis;IEA|GO:1901622;positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GORAB https://www.uniprot.org/uniprot/Q5T7V8 https://hpo.jax.org/app/browse/search?q=GORAB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607983 http://www.informatics.jax.org/searchtool/Search.do?query=GORAB&submit=Quick%0D%5204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GORAB rs6427262 0.326478 0 0.3545 1 0 0 UTR3 UTR3 downstream GORAB(NM_152281:c.*1064T>A) GORAB(uc009wvx.2:c.*1064T>A,uc001gha.2:c.*1064T>A,uc001ghb.2:c.*1064T>A,uc001ghc.2:c.*1064T>A,uc001ghd.2:c.*1064T>A) ENSG00000120370 Na Na Na Na Na Na Het;T>A 788;20|30 Ref Hom;T>A 1628;1|56 N N - 1 170959029 170959029 C T snp synonymous SNV C913T L305L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MROH9 Mroh9 ENSG00000117501 maestro heat like repeat family member 9 chr1:170904612-171033906 http://www.genecards.org/index.php?path=/Search/keyword/MROH9 https://www.uniprot.org/uniprot/Q5TGP6 http://www.informatics.jax.org/searchtool/Search.do?query=MROH9&submit=Quick%0D%4887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH9 rs16863922 0.20607 0.2552 0.1925 1 0 0 exonic exonic exonic MROH9 MROH9 ENSG00000117501 synonymous SNV synonymous SNV unknown MROH9:NM_025063:exon11:c.C913T:p.L305L,MROH9:NM_001163629:exon11:c.C913T:p.L305L, MROH9:uc010plz.2:exon11:c.C913T:p.L305L,MROH9:uc001ghg.3:exon11:c.C913T:p.L305L,MROH9:uc009wvy.3:exon11:c.C334T:p.L112L, UNKNOWN Het;C>T 1263;88|59 Ref Hom;C>T 4450;0|163 N N - 1 170959088 170959088 C T snp synonymous SNV C972T C324C polar,hydrophobic,neutral polar,hydrophobic,neutral MROH9 Mroh9 ENSG00000117501 maestro heat like repeat family member 9 chr1:170904612-171033906 http://www.genecards.org/index.php?path=/Search/keyword/MROH9 https://www.uniprot.org/uniprot/Q5TGP6 http://www.informatics.jax.org/searchtool/Search.do?query=MROH9&submit=Quick%0D%4887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH9 rs28634500 0.221446 0.2687 0.1968 1 0 0 exonic exonic exonic MROH9 MROH9 ENSG00000117501 synonymous SNV synonymous SNV unknown MROH9:NM_025063:exon11:c.C972T:p.C324C,MROH9:NM_001163629:exon11:c.C972T:p.C324C, MROH9:uc010plz.2:exon11:c.C972T:p.C324C,MROH9:uc001ghg.3:exon11:c.C972T:p.C324C,MROH9:uc009wvy.3:exon11:c.C393T:p.C131C, UNKNOWN Het;C>T 1672;95|74 Ref Hom;C>T 5128;2|191 N N - 1 170993444 170993444 G GGT indel intronic MROH9 Mroh9 ENSG00000117501 maestro heat like repeat family member 9 chr1:170904612-171033906 http://www.genecards.org/index.php?path=/Search/keyword/MROH9 https://www.uniprot.org/uniprot/Q5TGP6 http://www.informatics.jax.org/searchtool/Search.do?query=MROH9&submit=Quick%0D%4887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH9 rs3077629 0 0 0 1 0 0 intronic intronic intronic MROH9 MROH9 ENSG00000117501 Na Na Na Na Na Na Het;+GT 501;3|19 Het;+GT 379;8|15 Hom;+GT 411;1|15 N N - 1 171491264 171491264 T A snp intronic PRRC2C Prrc2c ENSG00000117523 proline rich coiled-coil 2C chr1:171454651-171562650 GO:0002244;hematopoietic progenitor cell differentiation;IEA GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRRC2C https://www.uniprot.org/uniprot/Q9Y520 https://www.ncbi.nlm.nih.gov/omim/?term=617373 http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2C&submit=Quick%0D%4890ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2C rs3736679 0.530351 0 0.5321 1 0 0 intronic intronic intronic PRRC2C PRRC2C ENSG00000117523 Na Na Na Na Na Na Het;T>A 281;8|12 Het;T>A 365;5|14 Hom;T>A 606;0|20 N N - 1 171511442 171511442 A G snp intronic PRRC2C Prrc2c ENSG00000117523 proline rich coiled-coil 2C chr1:171454651-171562650 GO:0002244;hematopoietic progenitor cell differentiation;IEA GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRRC2C https://www.uniprot.org/uniprot/Q9Y520 https://www.ncbi.nlm.nih.gov/omim/?term=617373 http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2C&submit=Quick%0D%4890ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2C rs2272810 0.43151 0 0 1 0 0 intronic intronic intronic PRRC2C PRRC2C ENSG00000117523 Na Na Na Na Na Na Het;A>G 640;11|22 Het;A>G 494;6|15 Hom;A>G 941;0|28 N N - 1 17214180 17214180 A G snp downstream BX284668.5 rs9325650 0.848642 0 0 1 0 0 intergenic intronic downstream MIR3675(dist=28664),CROCC(dist=34265) CROCC ENSG00000238142 Na Na Na Na Na Na Het;A>G 68;1|3 Ref Hom;A>G 260;0|11 N N - 1 175046488 175046488 G A snp intronic TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs2072033 0.571286 0 0 1 0 0 intronic intronic intronic TNN TNN ENSG00000120332 Na Na Na Na Na Na Het;G>A 212;17|9 Het;G>A 389;10|13 Hom;G>A 590;0|20 N N - 1 175046789 175046789 A G snp nonsynonymous SNV A235G R79G polar,hydrophilic,charged(+) aliphatic,neutral TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs2072032 0.571486 0.5944 0.5148 0.08 1 13 exonic exonic exonic TNN TNN ENSG00000120332 nonsynonymous SNV nonsynonymous SNV unknown TNN:NM_022093:exon2:c.A235G:p.R79G, TNN:uc010pmx.1:exon1:c.A235G:p.R79G,TNN:uc001gkl.1:exon2:c.A235G:p.R79G, UNKNOWN Het;A>G 2322;131|103 Het;A>G 2878;96|127 Hom;A>G 6298;1|224 N N - 1 175053101 175053101 A T snp intronic TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs2072030 0.544329 0.5653 0.5086 1 0 0 intronic intronic intronic TNN TNN ENSG00000120332 Na Na Na Na Na Na Het;A>T 805;30|22 Het;A>T 696;32|34 Hom;A>T 2777;2|77 N N - 1 175054548 175054548 C T snp synonymous SNV C1242T H414H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs1573758 0.541134 0.5627 0.5108 1 0 0 exonic exonic exonic TNN TNN ENSG00000120332 synonymous SNV synonymous SNV unknown TNN:NM_022093:exon6:c.C1242T:p.H414H, TNN:uc010pmx.1:exon5:c.C1242T:p.H414H,TNN:uc001gkl.1:exon6:c.C1242T:p.H414H, UNKNOWN Het;C>T 496;28|25 Het;C>T 451;26|25 Hom;C>T 853;0|33 N N - 1 175087677 175087677 G A snp intronic TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs6656284 0.475839 0.5693 0.4225 1 0 0 intronic intronic intronic TNN TNN ENSG00000120332 Na Na Na Na Na Na Het;G>A 1061;59|51 Het;G>A 1103;38|47 Hom;G>A 2835;2|109 N N - 1 175087729 175087729 T C snp nonsynonymous SNV T2419C W807R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs6696455 0.473243 0.5707 0.4237 0.08 1 13 exonic exonic exonic TNN TNN ENSG00000120332 nonsynonymous SNV nonsynonymous SNV unknown TNN:NM_022093:exon11:c.T2419C:p.W807R, TNN:uc001gkl.1:exon11:c.T2419C:p.W807R, UNKNOWN Het;T>C 1940;89|88 Het;T>C 1632;76|75 Hom;T>C 4544;4|174 N N - 1 175092707 175092707 C T snp nonsynonymous SNV C2822T T941M polar,hydrophilic,neutral hydrophobic,neutral TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs10798333 0.300319 0.4128 0.3428 0.46 6 13 exonic exonic exonic TNN TNN ENSG00000120332 nonsynonymous SNV nonsynonymous SNV unknown TNN:NM_022093:exon12:c.C2822T:p.T941M, TNN:uc001gkl.1:exon12:c.C2822T:p.T941M, UNKNOWN Het;C>T 1240;42|46 Ref Hom;C>T 2291;0|82 N N - 1 175097991 175097991 C T snp intronic TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs10798335 0.484824 0 0 1 0 0 intronic intronic intronic TNN TNN ENSG00000120332 Na Na Na Na Na Na Het;C>T 479;14|18 Ref Hom;C>T 745;0|26 N N - 1 175293424 175293424 T C snp ncRNA_intronic Z94057.1 rs2213635 0.766174 0 0 1 0 0 intronic intronic ncRNA_intronic TNR TNR ENSG00000260990 Na Na Na Na Na Na Het;T>C 154;5|6 Het;T>C 248;10|8 Hom;T>C 538;0|17 N N - 1 175299301 175299301 T C snp synonymous SNV A3702G Q1234Q polar,hydrophilic,neutral polar,hydrophilic,neutral TNR Tnr ENSG00000116147 tenascin R chr1:175284330-175712906 This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. ECM proteoglycans GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNR https://www.uniprot.org/uniprot/Q92752 https://www.ncbi.nlm.nih.gov/omim/?term=601995 http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR rs2027867 0.765974 0.7510 0.7452 1 0 0 exonic exonic exonic TNR TNR ENSG00000116147 synonymous SNV synonymous SNV unknown TNR:NM_003285:exon21:c.A3702G:p.Q1234Q, TNR:uc001gkp.1:exon19:c.A3702G:p.Q1234Q,TNR:uc009wwu.1:exon21:c.A3702G:p.Q1234Q, UNKNOWN Het;T>C 879;41|42 Het;T>C 532;39|27 Hom;T>C 2458;0|95 N N - 1 175323446 175323446 A G snp intronic TNR Tnr ENSG00000116147 tenascin R chr1:175284330-175712906 This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. ECM proteoglycans GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNR https://www.uniprot.org/uniprot/Q92752 https://www.ncbi.nlm.nih.gov/omim/?term=601995 http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR rs2301432 0.748203 0 0 1 0 0 intronic intronic intronic TNR TNR ENSG00000116147 Na Na Na Na Na Na Het;A>G 446;32|20 Het;A>G 565;27|23 Hom;A>G 1544;0|51 N N - 1 175324518 175324520 GCA G indel intronic TNR Tnr ENSG00000116147 tenascin R chr1:175284330-175712906 This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. ECM proteoglycans GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNR https://www.uniprot.org/uniprot/Q92752 https://www.ncbi.nlm.nih.gov/omim/?term=601995 http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR rs55715761 0.678315 0 0 1 0 0 intronic intronic intronic TNR TNR ENSG00000116147 Na Na Na Na Na Na Het;-CA 345;5|10 Het;-CA 83;2|3 Hom;-CA 143;0|4 N N - 1 175324521 175324521 A T snp intronic TNR Tnr ENSG00000116147 tenascin R chr1:175284330-175712906 This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. ECM proteoglycans GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNR https://www.uniprot.org/uniprot/Q92752 https://www.ncbi.nlm.nih.gov/omim/?term=601995 http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR rs55973835 0.678315 0 0 1 0 0 intronic intronic intronic TNR TNR ENSG00000116147 Na Na Na Na Na Na Het;A>T 354;6|10 Het;A>T 92;2|3 Hom;A>T 152;0|4 N N - 1 175335412 175335412 A C snp intronic TNR Tnr ENSG00000116147 tenascin R chr1:175284330-175712906 This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. ECM proteoglycans GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNR https://www.uniprot.org/uniprot/Q92752 https://www.ncbi.nlm.nih.gov/omim/?term=601995 http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR rs1385540 0.79393 0 0 1 0 0 intronic intronic intronic TNR TNR ENSG00000116147 Na Na Na Na Na Na Het;A>C 248;7|8 Het;A>C 127;5|5 Hom;A>C 309;0|8 N N - 1 175425767 175425768 AT A indel intronic TNR Tnr ENSG00000116147 tenascin R chr1:175284330-175712906 This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] schizophrenia; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; breast cancer ; tonometry; iloperidone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Adiponectin; Glomerulonephritis, IGA; Blood Pressure In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. ECM proteoglycans GO:0007155;cell adhesion;NAS|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007411;axon guidance;NAS|GO:0008306;associative learning;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0022408;negative regulation of cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030517;negative regulation of axon extension;IEA|GO:0035641;locomotory exploration behavior;IEA|GO:0048692;negative regulation of axon extension involved in regeneration;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060291;long-term synaptic potentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA|GO:0045121;membrane raft;IEA|GO:0072534;perineuronal net;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNR https://www.uniprot.org/uniprot/Q92752 https://www.ncbi.nlm.nih.gov/omim/?term=601995 http://www.informatics.jax.org/searchtool/Search.do?query=TNR&submit=Quick%0D%4710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNR rs11305391 0.639377 0 0 1 0 0 intronic intronic intronic TNR TNR ENSG00000116147 Na Na Na Na Na Na Het;-T 54;2|4 Ref Hom;-T 380;0|15 N N - 1 176145277 176145277 T C snp intronic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs471534 0.715655 0 0 1 0 0 intronic intronic intronic RFWD2 RFWD2 ENSG00000143207 Na Na Na Na Na Na Het;T>C 165;2|5 Het;T>C 77;3|3 Hom;T>C 185;0|5 N N - 1 176153658 176153658 T C snp intronic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs791744 0.714856 0 0 1 0 0 intronic intronic intronic RFWD2 RFWD2 ENSG00000143207 Na Na Na Na Na Na Het;T>C 108;4|4 Het;T>C 412;8|12 Hom;T>C 306;0|9 N N - 1 176225134 176225135 CT C indel intergenic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs35427630 0.296326 0 0 1 0 0 intergenic intergenic intergenic RFWD2(dist=48754),PAPPA2(dist=207172) RFWD2(dist=48764),PAPPA2(dist=207172) ENSG00000253025(dist=11969),ENSG00000227815(dist=16484) Na Na Na Na Na Na Het;-T 341;7|23 Het;-T 568;30|34 Hom;-T 1312;3|64 N N - 1 176225204 176225204 G A snp intergenic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs796125394 0 0 0 1 0 0 intergenic intergenic intergenic RFWD2(dist=48824),PAPPA2(dist=207103) RFWD2(dist=48834),PAPPA2(dist=207103) ENSG00000253025(dist=12039),ENSG00000227815(dist=16415) Na Na Na Na Na Na Het;G>A 222;5|8 Het;G>A 98;14|4 Hom;G>A 386;0|10 N N - 1 176225211 176225214 TTAA T indel intergenic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs151306351 0 0 0 1 0 0 intergenic intergenic intergenic RFWD2(dist=48831),PAPPA2(dist=207093) RFWD2(dist=48841),PAPPA2(dist=207093) ENSG00000253025(dist=12046),ENSG00000227815(dist=16405) Na Na Na Na Na Na Het;-TAA 245;3|7 Het;-TAA 53;11|3 Hom;-TAA 368;0|8 N N - 1 176225220 176225221 CT C indel intergenic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs570906606 0.453674 0 0 1 0 0 intergenic intergenic intergenic RFWD2(dist=48840),PAPPA2(dist=207086) RFWD2(dist=48850),PAPPA2(dist=207086) ENSG00000253025(dist=12055),ENSG00000227815(dist=16398) Na Na Na Na Na Na Het;-T 248;3|7 Het;-T 62;4|4 Hom;-T 278;0|7 N N - 1 176375962 176375962 C T snp intergenic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs2938150 0.363618 0 0 1 0 0 intergenic intergenic intergenic RFWD2(dist=199582),PAPPA2(dist=56345) RFWD2(dist=199592),PAPPA2(dist=56345) ENSG00000225904(dist=38425),ENSG00000116183(dist=56345) Na Na Na Na Na Na Het;C>T 102;6|4 Ref Hom;C>T 118;0|4 N N - 1 176376119 176376119 A G snp intergenic RFWD2 Rfwd2 ENSG00000143207 ring finger and WD repeat domain 2 chr1:175913967-176176629 Tobacco Use Disorder; Narcolepsy; Breath Tests Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. Neddylation GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043687;post-translational protein modification;TAS GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IEA GO:0004842;ubiquitin-protein transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/RFWD2 https://www.uniprot.org/uniprot/Q8NHY2 https://www.ncbi.nlm.nih.gov/omim/?term=608067 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD2&submit=Quick%0D%8391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD2 rs2504475 0.486621 0 0 1 0 0 intergenic intergenic intergenic RFWD2(dist=199739),PAPPA2(dist=56188) RFWD2(dist=199749),PAPPA2(dist=56188) ENSG00000225904(dist=38582),ENSG00000116183(dist=56188) Na Na Na Na Na Na Het;A>G 1523;34|64 Het;A>G 975;63|51 Hom;A>G 3316;2|129 N N - 1 17683326 17683326 C T snp intronic PADI4 Padi4 ENSG00000280908 peptidyl arginine deiminase 4 chr1:17634690-17690499 This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008] Basal cell carcinoma (cutaneous); schizophrenia; Arthritis, Rheumatoid; rheumatoid arthritis; Arthritis, Rheumatoid|; diabetes, type 1; Autoimmune Diseases|Graft vs Host Disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatoid spondylitis|Spondylitis, Ankylosing; anti-cyclic citrullinated peptide antibodies rheumatoid arthritis; Arthritis, Rheumatoid|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Rheumatoid Arthritis; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; polyarthritis; Rheumatic Diseases|Rheumatism; smoking; multiple sclerosis; rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease Homozygous mice are viable albeit reduced number than expected were born from heterozygous crosses, and shows decreased antibacterial immune responses. Mice homozygous for a different knock-out allele exhibit decreased weight loss in response to viral infection. Chromatin modifying enzymes GO:0002376;immune system process;IEA|GO:0006325;chromatin organization;TAS|GO:0006334;nucleosome assembly;ISS|GO:0006338;chromatin remodeling;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006464;cellular protein modification process;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0018101;protein citrullination;IEA|GO:0019546;arginine deiminase pathway;IMP|GO:0019827;stem cell population maintenance;ISS|GO:0036413;histone H3-R26 citrullination;IDA|GO:0036414;histone citrullination;IDA|GO:0045087;innate immune response;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IMP GO:0004668;protein-arginine deiminase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016990;arginine deiminase activity;IDA|GO:0034618;arginine binding;IMP|GO:0042803;protein homodimerization activity;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PADI4 https://www.ncbi.nlm.nih.gov/omim/?term=605347 http://www.informatics.jax.org/searchtool/Search.do?query=PADI4&submit=Quick%0D%22253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PADI4 rs4920601 0.466853 0 0 1 0 0 intronic intronic intronic PADI4 PADI4 ENSG00000159339 Na Na Na Na Na Na Het;C>T 38;2|4 Ref Hom;C>T 334;0|9 N N - 1 177975225 177975225 A T snp downstream LOC730102 rs12073281 0.378395 0 0 1 0 0 downstream intronic ncRNA_intronic LOC730102 SEC16B ENSG00000254154 Na Na Na Na Na Na Het;A>T 63;7|3 Ref Hom;A>T 180;0|5 N N - 1 177976497 177976497 T G snp ncRNA_exonic LOC730102 rs41267166 0.0922524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC730102 LOC730102 ENSG00000242193 Na Na Na Na Na Na Het;T>G 2270;59|92 Het;T>G 1872;79|81 Hom;T>G 4404;0|152 N N - 1 178006840 178006840 C T snp ncRNA_exonic LOC730102 rs11581088 0.180312 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC730102 LOC730102 ENSG00000242193,ENSG00000254154 Na Na Na Na Na Na Het;C>T 327;19|16 Het;C>T 321;20|15 Hom;C>T 963;0|34 N N - 1 183077296 183077296 A AG indel intronic LAMC1 Lamc1 ENSG00000135862 laminin subunit gamma 1 chr1:182992595-183114727 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. Post-translational protein phosphorylation GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IMP http://www.genecards.org/index.php?path=/Search/keyword/LAMC1 https://www.uniprot.org/uniprot/P11047 https://www.ncbi.nlm.nih.gov/omim/?term=150290 http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1 rs3835273 0.53135 0 0 1 0 0 intronic intronic intronic LAMC1 LAMC1 ENSG00000135862 Na Na Na Na Na Na Het;+G 104;3|4 Het;+G 140;3|5 Hom;+G 125;0|4 N N - 1 183079509 183079509 C T snp intronic LAMC1 Lamc1 ENSG00000135862 laminin subunit gamma 1 chr1:182992595-183114727 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. Post-translational protein phosphorylation GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IMP http://www.genecards.org/index.php?path=/Search/keyword/LAMC1 https://www.uniprot.org/uniprot/P11047 https://www.ncbi.nlm.nih.gov/omim/?term=150290 http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1 rs2296291 0.531749 0 0 1 0 0 intronic intronic intronic LAMC1 LAMC1 ENSG00000135862 Na Na Na Na Na Na Het;C>T 40;3|2 Het;C>T 197;1|6 Hom;C>T 96;0|3 N N - 1 183112041 183112041 G C snp UTR3 *116G>C LAMC1 Lamc1 ENSG00000135862 laminin subunit gamma 1 chr1:182992595-183114727 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. Post-translational protein phosphorylation GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IMP http://www.genecards.org/index.php?path=/Search/keyword/LAMC1 https://www.uniprot.org/uniprot/P11047 https://www.ncbi.nlm.nih.gov/omim/?term=150290 http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1 rs3359 0.576278 0 0 1 0 0 UTR3 UTR3 UTR3 LAMC1(NM_002293:c.*116G>C) LAMC1(uc001gpy.4:c.*116G>C) ENSG00000135862(ENST00000258341:c.*116G>C) Na Na Na Na Na Na Het;G>C 72;8|4 Het;G>C 171;2|6 Hom;G>C 185;0|5 N N - 1 183253213 183253213 G A snp intronic NMNAT2 Nmnat2 ENSG00000157064 nicotinamide nucleotide adenylyltransferase 2 chr1:183217372-183387737 This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Heart Failure; Tobacco Use Disorder; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus Mice homozygous for a gene trap or transposon inserted allele exhibit perinatal lethality, distended bladders, atelectasis and loss of axon integrity. Nicotinate metabolism GO:0009058;biosynthetic process;IEA|GO:0009435;NAD biosynthetic process;IC|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019674;NAD metabolic process;TAS|GO:0034628;'de novo' NAD biosynthetic process from aspartate;IBA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IEA|GO:0045202;synapse;IEA GO:0000166;nucleotide binding;IEA|GO:0000309;nicotinamide-nucleotide adenylyltransferase activity;TAS|GO:0003824;catalytic activity;IEA|GO:0004515;nicotinate-nucleotide adenylyltransferase activity;EXP|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NMNAT2 https://www.ncbi.nlm.nih.gov/omim/?term=608701 http://www.informatics.jax.org/searchtool/Search.do?query=NMNAT2&submit=Quick%0D%10050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NMNAT2 rs607332 0.344649 0.3641 0.3465 1 0 0 intronic intronic intronic NMNAT2 NMNAT2 ENSG00000157064 Na Na Na Na Na Na Het;G>A 680;15|34 Het;G>A 420;20|20 Hom;G>A 1157;0|42 N N - 1 183895435 183895435 A C snp UTR3 *9A>C RGL1 Rgl1 ENSG00000143344 ral guanine nucleotide dissociation stimulator like 1 chr1:183605220-183897665 Tobacco Use Disorder; Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Antidepressive Agents PPARA activates gene expression GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;NAS|GO:0019216;regulation of lipid metabolic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008321;Ral guanyl-nucleotide exchange factor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/RGL1 https://www.uniprot.org/uniprot/Q9NZL6 https://www.ncbi.nlm.nih.gov/omim/?term=605667 http://www.informatics.jax.org/searchtool/Search.do?query=RGL1&submit=Quick%0D%8417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGL1 rs4382680 0.0385383 0.0670 0.0693 1 0 0 UTR3 UTR3 UTR3 RGL1(NM_001297669:c.*9A>C,NM_001297670:c.*9A>C,NM_015149:c.*9A>C,NM_001297672:c.*9A>C,NM_001297671:c.*9A>C) RGL1(uc001gqm.3:c.*9A>C,uc010pog.2:c.*9A>C,uc010poh.2:c.*9A>C,uc001gqo.3:c.*9A>C,uc010poi.2:c.*9A>C) ENSG00000143344(ENST00000304685:c.*9A>C,ENST00000536277:c.*9A>C,ENST00000360851:c.*9A>C,ENST00000539189:c.*9A>C) Na Na Na Na Na Na Het;A>C 198;30|10 Het;A>C 511;11|20 Hom;A>C 644;0|19 N N - 1 183908222 183908222 C T snp intronic COLGALT2 Colgalt2 ENSG00000198756 collagen beta(1-O)galactosyltransferase 2 chr1:183898796-184006863 Attention deficit hyperactivity disorder and conduct disorder; Body Height; Parkinson Disease; Tobacco Use Disorder; height; Parkinson's disease ; Height Collagen biosynthesis and modifying enzymes GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/COLGALT2 https://www.ncbi.nlm.nih.gov/omim/?term=617533 http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT2&submit=Quick%0D%16993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT2 rs3010040 0.174321 0.1562 0.2002 1 0 0 intronic intronic intronic COLGALT2 COLGALT2 ENSG00000198756 Na Na Na Na Na Na Het;C>T 912;21|37 Het;C>T 596;36|27 Hom;C>T 1544;0|55 N N - 1 183909717 183909717 G A snp synonymous SNV C1602T P534P hydrophobic,neutral hydrophobic,neutral COLGALT2 Colgalt2 ENSG00000198756 collagen beta(1-O)galactosyltransferase 2 chr1:183898796-184006863 Attention deficit hyperactivity disorder and conduct disorder; Body Height; Parkinson Disease; Tobacco Use Disorder; height; Parkinson's disease ; Height Collagen biosynthesis and modifying enzymes GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/COLGALT2 https://www.ncbi.nlm.nih.gov/omim/?term=617533 http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT2&submit=Quick%0D%16993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT2 rs2296713 0.172324 0.1576 0.1984 1 0 0 exonic exonic exonic COLGALT2 COLGALT2 ENSG00000198756 synonymous SNV synonymous SNV unknown COLGALT2:NM_015101:exon11:c.C1602T:p.P534P,COLGALT2:NM_001303421:exon11:c.C1242T:p.P414P,COLGALT2:NM_001303420:exon11:c.C1602T:p.P534P, COLGALT2:uc001gqs.3:exon11:c.C1242T:p.P414P,COLGALT2:uc001gqr.3:exon11:c.C1602T:p.P534P,COLGALT2:uc001gqp.3:exon3:c.C426T:p.P142P,COLGALT2:uc010poj.1:exon11:c.C1602T:p.P534P,COLGALT2:uc001gqq.3:exon6:c.C813T:p.P271P, UNKNOWN Het;G>A 1512;61|64 Het;G>A 1002;49|47 Hom;G>A 2839;1|105 N N - 1 183909934 183909934 G A snp intronic COLGALT2 Colgalt2 ENSG00000198756 collagen beta(1-O)galactosyltransferase 2 chr1:183898796-184006863 Attention deficit hyperactivity disorder and conduct disorder; Body Height; Parkinson Disease; Tobacco Use Disorder; height; Parkinson's disease ; Height Collagen biosynthesis and modifying enzymes GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0050211;procollagen galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/COLGALT2 https://www.ncbi.nlm.nih.gov/omim/?term=617533 http://www.informatics.jax.org/searchtool/Search.do?query=COLGALT2&submit=Quick%0D%16993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COLGALT2 rs1887278 0.172324 0.1572 0.1984 1 0 0 intronic intronic intronic COLGALT2 COLGALT2 ENSG00000198756 Na Na Na Na Na Na Het;G>A 931;37|36 Het;G>A 832;31|36 Hom;G>A 2101;0|72 N N - 1 186159947 186159947 A G snp UTR3 *937A>G HMCN1 Hmcn1 ENSG00000143341 hemicentin 1 chr1:185703683-186160085 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN1 https://www.uniprot.org/uniprot/Q96RW7 https://www.ncbi.nlm.nih.gov/omim/?term=608548 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1 rs41317509 0.0189696 0 0 1 0 0 ncRNA_intronic ncRNA_intronic UTR3 MIR548F1 MIR548F1 ENSG00000143341(ENST00000367492:c.*937A>G,ENST00000271588:c.*937A>G) Na Na Na Na Na Na Het;A>G 1260;50|55 Het;A>G 543;66|32 Hom;A>G 2783;0|100 N N - 1 186908385 186908385 C T snp intronic PLA2G4A Pla2g4a ENSG00000116711 phospholipase A2 group IVA chr1:186798085-186958113 This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Lipoproteins; depressive disorder, major; bipolar disorder; schizophrenia; null; Body Mass Index; depression; bipolar disorder; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; patent ductus arteriosus; knee osteoarthritis; Tobacco Use Disorder; Inflammation|Premature Birth; Osteoarthritis, Knee; Premature Birth; HIV; diabetes, type 2; lipids; glucose; asthma; Type 2 Diabetes| edema | rosiglitazone; Body Composition Mice homozygouse for disruptions in this gene display reduced allergic and autoimmune reactions. They also display an increased incidence of insulin and reduced female reproductive performance. COPI-independent Golgi-to-ER retrograde traffic GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006663;platelet activating factor biosynthetic process;NAS|GO:0006690;icosanoid metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;TAS|GO:0035965;cardiolipin acyl-chain remodeling;TAS|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0046456;icosanoid biosynthetic process;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0071236;cellular response to antibiotic;IEA GO:0005737;cytoplasm;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IDA|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4A https://www.uniprot.org/uniprot/P47712 https://www.ncbi.nlm.nih.gov/omim/?term=600522 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4A&submit=Quick%0D%4775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4A rs2307200 0.365815 0.3145 0.2410 1 0 0 intronic intronic intronic PLA2G4A PLA2G4A ENSG00000116711 Na Na Na Na Na Na Het;C>T 648;37|29 Het;C>T 1311;36|51 Hom;C>T 2382;0|79 N N - 1 186925169 186925169 G T snp intronic PLA2G4A Pla2g4a ENSG00000116711 phospholipase A2 group IVA chr1:186798085-186958113 This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Lipoproteins; depressive disorder, major; bipolar disorder; schizophrenia; null; Body Mass Index; depression; bipolar disorder; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; Cholesterol, LDL; Alzheimer's disease; Alzheimer's disease ; patent ductus arteriosus; knee osteoarthritis; Tobacco Use Disorder; Inflammation|Premature Birth; Osteoarthritis, Knee; Premature Birth; HIV; diabetes, type 2; lipids; glucose; asthma; Type 2 Diabetes| edema | rosiglitazone; Body Composition Mice homozygouse for disruptions in this gene display reduced allergic and autoimmune reactions. They also display an increased incidence of insulin and reduced female reproductive performance. COPI-independent Golgi-to-ER retrograde traffic GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006663;platelet activating factor biosynthetic process;NAS|GO:0006690;icosanoid metabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;TAS|GO:0035965;cardiolipin acyl-chain remodeling;TAS|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0046456;icosanoid biosynthetic process;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0071236;cellular response to antibiotic;IEA GO:0005737;cytoplasm;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IDA|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4A https://www.uniprot.org/uniprot/P47712 https://www.ncbi.nlm.nih.gov/omim/?term=600522 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4A&submit=Quick%0D%4775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4A rs35183959 0.131589 0 0 1 0 0 intronic intronic intronic PLA2G4A PLA2G4A ENSG00000116711 Na Na Na Na Na Na Het;G>T 487;30|18 Het;G>T 564;16|22 Hom;G>T 1608;0|32 N N - 1 188296585 188296585 C G snp intergenic LINC01036 rs6425170 0.828674 0 0 1 0 0 intergenic intergenic intergenic LINC01036(dist=967209),BRINP3(dist=1770212) C1orf99(dist=683597),FAM5C(dist=1770212) ENSG00000224278(dist=84776),ENSG00000225006(dist=181084) Na Na Na Na Na Na Het;C>G 397;12|12 Het;C>G 233;6|8 Hom;C>G 490;0|14 N N - 1 188396384 188396384 T C snp intergenic LINC01036 rs10753051 0.822883 0 0 1 0 0 intergenic intergenic intergenic LINC01036(dist=1067008),BRINP3(dist=1670413) C1orf99(dist=783396),FAM5C(dist=1670413) ENSG00000224278(dist=184575),ENSG00000225006(dist=81285) Na Na Na Na Na Na Het;T>C 620;22|17 Het;T>C 1146;39|31 Hom;T>C 3959;0|111 N N - 1 189896505 189896505 C T snp intergenic NONE rs12122878 0.267372 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),BRINP3(dist=170292) NONE(dist=NONE),FAM5C(dist=170292) ENSG00000238270(dist=58847),ENSG00000230987(dist=62195) Na Na Na Na Na Na Het;C>T 141;5|5 Het;C>T 167;2|6 Hom;C>T 431;0|16 N N - 1 192580856 192580859 ATTC A indel intergenic RGS1 Rgs1 ENSG00000090104 regulator of G protein signaling 1 chr1:192544857-192549161 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Bulimia; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; diabetes, type 1 ; Celiac Disease|; coeliac disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; multiple sclerosis Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in B cells and immature dendritic cells, and decreased antibody secreting cell numbers. G alpha (i) signalling events GO:0006955;immune response;TAS|GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0061737;leukotriene signaling pathway;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA GO:0001965;G-protein alpha-subunit binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005516;calmodulin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RGS1 https://www.uniprot.org/uniprot/Q08116 https://www.ncbi.nlm.nih.gov/omim/?term=600323 http://www.informatics.jax.org/searchtool/Search.do?query=RGS1&submit=Quick%0D%2088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS1 rs10590696 0.423922 0 0 1 0 0 intergenic intergenic intergenic RGS1(dist=31697),RGS13(dist=24409) RGS1(dist=31697),RGS13(dist=24409) ENSG00000090104(dist=31695),ENSG00000127074(dist=24416) Na Na Na Na Na Na Het;-TTC 649;20|18 Het;-TTC 449;16|13 Hom;-TTC 2031;0|48 N N - 1 192581100 192581100 G A snp intergenic RGS1 Rgs1 ENSG00000090104 regulator of G protein signaling 1 chr1:192544857-192549161 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Bulimia; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; diabetes, type 1 ; Celiac Disease|; coeliac disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; multiple sclerosis Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in B cells and immature dendritic cells, and decreased antibody secreting cell numbers. G alpha (i) signalling events GO:0006955;immune response;TAS|GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0061737;leukotriene signaling pathway;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA GO:0001965;G-protein alpha-subunit binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005516;calmodulin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RGS1 https://www.uniprot.org/uniprot/Q08116 https://www.ncbi.nlm.nih.gov/omim/?term=600323 http://www.informatics.jax.org/searchtool/Search.do?query=RGS1&submit=Quick%0D%2088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS1 rs7554685 0.423922 0 0 1 0 0 intergenic intergenic intergenic RGS1(dist=31941),RGS13(dist=24168) RGS1(dist=31941),RGS13(dist=24168) ENSG00000090104(dist=31939),ENSG00000127074(dist=24175) Na Na Na Na Na Na Het;G>A 319;11|10 Het;G>A 401;11|12 Hom;G>A 1206;0|34 N N - 1 192581115 192581115 A G snp intergenic RGS1 Rgs1 ENSG00000090104 regulator of G protein signaling 1 chr1:192544857-192549161 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Bulimia; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Celiac Disease|Chronic Childhood Arthritis|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; diabetes, type 1 ; Celiac Disease|; coeliac disease; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; multiple sclerosis Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in B cells and immature dendritic cells, and decreased antibody secreting cell numbers. G alpha (i) signalling events GO:0006955;immune response;TAS|GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0061737;leukotriene signaling pathway;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA GO:0001965;G-protein alpha-subunit binding;IPI|GO:0005096;GTPase activator activity;TAS|GO:0005516;calmodulin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RGS1 https://www.uniprot.org/uniprot/Q08116 https://www.ncbi.nlm.nih.gov/omim/?term=600323 http://www.informatics.jax.org/searchtool/Search.do?query=RGS1&submit=Quick%0D%2088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS1 rs7544573 0.424121 0 0 1 0 0 intergenic intergenic intergenic RGS1(dist=31956),RGS13(dist=24153) RGS1(dist=31956),RGS13(dist=24153) ENSG00000090104(dist=31954),ENSG00000127074(dist=24160) Na Na Na Na Na Na Het;A>G 170;11|6 Het;A>G 369;9|11 Hom;A>G 775;0|20 N N - 1 193045324 193045324 A G snp intronic TROVE2 Trove2 ENSG00000116747 TROVE domain family member 2 chr1:193028552-193060907 Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. GO:0002520;immune system development;IEA|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0009411;response to UV;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;TAS GO:0003723;RNA binding;TAS|GO:0030620;U2 snRNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TROVE2 https://www.uniprot.org/uniprot/P10155 https://www.ncbi.nlm.nih.gov/omim/?term=600063 http://www.informatics.jax.org/searchtool/Search.do?query=TROVE2&submit=Quick%0D%4783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TROVE2 rs7542466 0.596046 0 0 1 0 0 intronic intronic intronic TROVE2 TROVE2 ENSG00000116747 Na Na Na Na Na Na Het;A>G 145;2|5 Ref Hom;A>G 167;0|5 N N - 1 193051685 193051685 G A snp intronic TROVE2 Trove2 ENSG00000116747 TROVE domain family member 2 chr1:193028552-193060907 Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. GO:0002520;immune system development;IEA|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0009411;response to UV;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;TAS GO:0003723;RNA binding;TAS|GO:0030620;U2 snRNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TROVE2 https://www.uniprot.org/uniprot/P10155 https://www.ncbi.nlm.nih.gov/omim/?term=600063 http://www.informatics.jax.org/searchtool/Search.do?query=TROVE2&submit=Quick%0D%4783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TROVE2 rs2275444 0.59345 0.6685 0.6761 1 0 0 intronic intronic intronic TROVE2 TROVE2 ENSG00000116747 Na Na Na Na Na Na Het;G>A 482;15|18 Het;G>A 286;10|11 Hom;G>A 645;0|22 N N - 1 193074371 193074371 A G snp intronic GLRX2 Glrx2 ENSG00000023572 glutaredoxin 2 chr1:193065598-193075244 The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006749;glutathione metabolic process;TAS|GO:0006915;apoptotic process;NAS|GO:0007568;aging;IEA|GO:0009266;response to temperature stimulus;NAS|GO:0009966;regulation of signal transduction;NAS|GO:0010033;response to organic substance;IDA|GO:0030154;cell differentiation;NAS|GO:0042262;DNA protection;NAS|GO:0042542;response to hydrogen peroxide;IDA|GO:0045454;cell redox homeostasis;TAS|GO:0051775;response to redox state;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071451;cellular response to superoxide;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003756;protein disulfide isomerase activity;TAS|GO:0008794;arsenate reductase (glutaredoxin) activity;TAS|GO:0009055;electron carrier activity;NAS|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX2 https://www.uniprot.org/uniprot/Q9NS18 https://www.ncbi.nlm.nih.gov/omim/?term=606820 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX2&submit=Quick%0D%685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX2 rs10801175 0.681709 0.7689 0.7072 1 0 0 intronic intronic intronic GLRX2 GLRX2 ENSG00000023572 Na Na Na Na Na Na Het;A>G 77;4|4 Het;A>G 129;10|7 Hom;A>G 207;0|9 N N - 1 193074651 193074651 T A snp nonsynonymous SNV A118T R40W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral GLRX2 Glrx2 ENSG00000023572 glutaredoxin 2 chr1:193065598-193075244 The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006749;glutathione metabolic process;TAS|GO:0006915;apoptotic process;NAS|GO:0007568;aging;IEA|GO:0009266;response to temperature stimulus;NAS|GO:0009966;regulation of signal transduction;NAS|GO:0010033;response to organic substance;IDA|GO:0030154;cell differentiation;NAS|GO:0042262;DNA protection;NAS|GO:0042542;response to hydrogen peroxide;IDA|GO:0045454;cell redox homeostasis;TAS|GO:0051775;response to redox state;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071451;cellular response to superoxide;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003756;protein disulfide isomerase activity;TAS|GO:0008794;arsenate reductase (glutaredoxin) activity;TAS|GO:0009055;electron carrier activity;NAS|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX2 https://www.uniprot.org/uniprot/Q9NS18 https://www.ncbi.nlm.nih.gov/omim/?term=606820 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX2&submit=Quick%0D%685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX2 rs10921310 0.680711 0.7369 0.7636 0.08 1 12 exonic exonic exonic GLRX2 GLRX2 ENSG00000023572 nonsynonymous SNV nonsynonymous SNV unknown GLRX2:NM_016066:exon1:c.A118T:p.R40W, GLRX2:uc001gta.2:exon1:c.A118T:p.R40W, UNKNOWN Het;T>A 1148;40|52 Het;T>A 609;22|26 Hom;T>A 1414;0|53 N N - 1 193094375 193094375 T C snp intronic CDC73 Cdc73 ENSG00000134371 cell division cycle 73 chr1:193091147-193223031 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] Osteoporosis; Body Weights and Measures; Pancreatic Neoplasms; Blood Flow Velocity; primary hyperparathyroidism; hyperparathyroidism; parathyroid cancer Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation. E3 ubiquitin ligases ubiquitinate target proteins GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001558;regulation of cell growth;IEA|GO:0001711;endodermal cell fate commitment;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010390;histone monoubiquitination;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016570;histone modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0031442;positive regulation of mRNA 3'-end processing;IMP|GO:0031648;protein destabilization;IMP|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0033523;histone H2B ubiquitination;IDA|GO:0034402;recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex;IBA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048147;negative regulation of fibroblast proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016593;Cdc73/Paf1 complex;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0001076;transcription factor activity, RNA polymerase II transcription factor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDC73 https://www.uniprot.org/uniprot/Q6P1J9 https://hpo.jax.org/app/browse/search?q=CDC73&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607393 http://www.informatics.jax.org/searchtool/Search.do?query=CDC73&submit=Quick%0D%6970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC73 rs4466634 0.590256 0.6339 0.6567 1 0 0 intronic intronic intronic CDC73 CDC73 ENSG00000134371 Na Na Na Na Na Na Het;T>C 1229;104|59 Het;T>C 1045;37|46 Hom;T>C 3548;0|126 N N - 1 193104827 193104827 G A snp intronic CDC73 Cdc73 ENSG00000134371 cell division cycle 73 chr1:193091147-193223031 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] Osteoporosis; Body Weights and Measures; Pancreatic Neoplasms; Blood Flow Velocity; primary hyperparathyroidism; hyperparathyroidism; parathyroid cancer Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation. E3 ubiquitin ligases ubiquitinate target proteins GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001558;regulation of cell growth;IEA|GO:0001711;endodermal cell fate commitment;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010390;histone monoubiquitination;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016570;histone modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0031442;positive regulation of mRNA 3'-end processing;IMP|GO:0031648;protein destabilization;IMP|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0033523;histone H2B ubiquitination;IDA|GO:0034402;recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex;IBA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048147;negative regulation of fibroblast proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016593;Cdc73/Paf1 complex;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0001076;transcription factor activity, RNA polymerase II transcription factor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDC73 https://www.uniprot.org/uniprot/Q6P1J9 https://hpo.jax.org/app/browse/search?q=CDC73&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607393 http://www.informatics.jax.org/searchtool/Search.do?query=CDC73&submit=Quick%0D%6970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC73 rs10921318 0.576078 0 0 1 0 0 intronic intronic intronic CDC73 CDC73 ENSG00000134371 Na Na Na Na Na Na Het;G>A 286;7|10 Het;G>A 248;3|8 Hom;G>A 371;0|11 N N - 1 193205272 193205272 T A snp intronic CDC73 Cdc73 ENSG00000134371 cell division cycle 73 chr1:193091147-193223031 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] Osteoporosis; Body Weights and Measures; Pancreatic Neoplasms; Blood Flow Velocity; primary hyperparathyroidism; hyperparathyroidism; parathyroid cancer Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation. E3 ubiquitin ligases ubiquitinate target proteins GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001558;regulation of cell growth;IEA|GO:0001711;endodermal cell fate commitment;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010390;histone monoubiquitination;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016567;protein ubiquitination;TAS|GO:0016570;histone modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0031442;positive regulation of mRNA 3'-end processing;IMP|GO:0031648;protein destabilization;IMP|GO:0032968;positive regulation of transcription elongation from RNA polymerase II promoter;IDA|GO:0033523;histone H2B ubiquitination;IDA|GO:0034402;recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex;IBA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048147;negative regulation of fibroblast proliferation;IMP|GO:0050680;negative regulation of epithelial cell proliferation;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016593;Cdc73/Paf1 complex;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0001076;transcription factor activity, RNA polymerase II transcription factor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDC73 https://www.uniprot.org/uniprot/Q6P1J9 https://hpo.jax.org/app/browse/search?q=CDC73&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607393 http://www.informatics.jax.org/searchtool/Search.do?query=CDC73&submit=Quick%0D%6970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC73 rs3738244 0.648363 0 0 1 0 0 intronic intronic intronic CDC73 CDC73 ENSG00000134371 Na Na Na Na Na Na Het;T>A 324;12|12 Het;T>A 199;11|8 Hom;T>A 705;0|24 N N - 1 197478756 197478757 AT A indel UTR3 *834_*833delinsT DENND1B Dennd1b ENSG00000213047 DENN domain containing 1B chr1:197473878-197744826 Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] asthma; obesity|asthma; Crohn Disease; Crohn Disease|Crohn's disease; Coronary Artery Disease Homozygous KO results in enhanced allergic responses to aerosolized antigen challenges caused by delayed TCR down-modulation following receptor activation in T helper 2 cells. RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0032456;endocytic recycling;IEA|GO:0035745;T-helper 2 cell cytokine production;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050776;regulation of immune response;IEA|GO:0050852;T cell receptor signaling pathway;IMP|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DENND1B https://www.ncbi.nlm.nih.gov/omim/?term=613292 http://www.informatics.jax.org/searchtool/Search.do?query=DENND1B&submit=Quick%0D%18081ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND1B rs33927647 0 0 0 1 0 0 UTR3 UTR3 UTR3 DENND1B(NM_001195215:c.*834_*833delinsT) DENND1B(uc021pgu.1:c.*834_*833delinsT) ENSG00000213047(ENST00000391979:c.*834_*833delinsT) Na Na Na Na Na Na Het;-T 491;6|31 Ref Hom;-T 1606;4|83 N N - 1 198687114 198687115 AC A indel intronic PTPRC Ptprc ENSG00000262418 protein tyrosine phosphatase, receptor type C chr1:198607801-198726545 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012] kidney transplant complications; hepatitis, autoimmune; Alzheimer's Disease; hepatitis B; Graves' disease; thyroiditis, Hashimoto's; Arthritis, Rheumatoid|Rheumatoid Arthritis; systemic sclerosis; autoimmune nephritis; Ascariasis|Diabetes Mellitus, Type 1|Graves Disease|Hepatitis C; abnormal splicing; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; multiple sclerosis; Scleroderma, Systemic; diabetes, type 1; Graves' disease; Inflammatory Bowel Diseases; hepatitis, autoimmune; hepatitis, chronic; rheumatoid arthritis; Arthritis, Rheumatoid|; SClD; cardiomyopathy; HIV; HTLV-1 associated myelopathy/tropical spastic; paraparesis; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1; null; lupus erythematosus; sclerosis, systemic; Multiple Sclerosis Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death. Neutrophil degranulation GO:0001915;negative regulation of T cell mediated cytotoxicity;ISS|GO:0001960;negative regulation of cytokine-mediated signaling pathway;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IMP|GO:0002378;immunoglobulin biosynthetic process;IMP|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;ISS|GO:0006933;negative regulation of cell adhesion involved in substrate-bound cell migration;IMP|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0016311;dephosphorylation;ISS|GO:0030217;T cell differentiation;ISS|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042100;B cell proliferation;ISS|GO:0042102;positive regulation of T cell proliferation;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0044770;cell cycle phase transition;IMP|GO:0045860;positive regulation of protein kinase activity;NAS|GO:0048539;bone marrow development;IMP|GO:0048864;stem cell development;IMP|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;ISS|GO:0050857;positive regulation of antigen receptor-mediated signaling pathway;ISS|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0051607;defense response to virus;ISS|GO:0051726;regulation of cell cycle;ISS|GO:2000473;positive regulation of hematopoietic stem cell migration;IMP|GO:2000648;positive regulation of stem cell proliferation;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;ISS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRC https://www.uniprot.org/uniprot/P08575 https://hpo.jax.org/app/browse/search?q=PTPRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=151460 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRC&submit=Quick%0D%20478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRC rs34800651 0.0589058 0 0 1 0 0 intronic intronic intronic PTPRC PTPRC ENSG00000081237 Na Na Na Na Na Na Het;-C 397;9|10 Ref Hom;-C 188;0|5 N N - 1 198687125 198687125 A G snp intronic PTPRC Ptprc ENSG00000262418 protein tyrosine phosphatase, receptor type C chr1:198607801-198726545 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012] kidney transplant complications; hepatitis, autoimmune; Alzheimer's Disease; hepatitis B; Graves' disease; thyroiditis, Hashimoto's; Arthritis, Rheumatoid|Rheumatoid Arthritis; systemic sclerosis; autoimmune nephritis; Ascariasis|Diabetes Mellitus, Type 1|Graves Disease|Hepatitis C; abnormal splicing; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; multiple sclerosis; Scleroderma, Systemic; diabetes, type 1; Graves' disease; Inflammatory Bowel Diseases; hepatitis, autoimmune; hepatitis, chronic; rheumatoid arthritis; Arthritis, Rheumatoid|; SClD; cardiomyopathy; HIV; HTLV-1 associated myelopathy/tropical spastic; paraparesis; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1; null; lupus erythematosus; sclerosis, systemic; Multiple Sclerosis Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death. Neutrophil degranulation GO:0001915;negative regulation of T cell mediated cytotoxicity;ISS|GO:0001960;negative regulation of cytokine-mediated signaling pathway;ISS|GO:0002244;hematopoietic progenitor cell differentiation;IMP|GO:0002378;immunoglobulin biosynthetic process;IMP|GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;ISS|GO:0006933;negative regulation of cell adhesion involved in substrate-bound cell migration;IMP|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0016311;dephosphorylation;ISS|GO:0030217;T cell differentiation;ISS|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042100;B cell proliferation;ISS|GO:0042102;positive regulation of T cell proliferation;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0044770;cell cycle phase transition;IMP|GO:0045860;positive regulation of protein kinase activity;NAS|GO:0048539;bone marrow development;IMP|GO:0048864;stem cell development;IMP|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;ISS|GO:0050857;positive regulation of antigen receptor-mediated signaling pathway;ISS|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0051607;defense response to virus;ISS|GO:0051726;regulation of cell cycle;ISS|GO:2000473;positive regulation of hematopoietic stem cell migration;IMP|GO:2000648;positive regulation of stem cell proliferation;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;ISS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRC https://www.uniprot.org/uniprot/P08575 https://hpo.jax.org/app/browse/search?q=PTPRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=151460 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRC&submit=Quick%0D%20478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRC rs12407767 0.0555112 0 0 1 0 0 intronic intronic intronic PTPRC PTPRC ENSG00000081237 Na Na Na Na Na Na Het;A>G 553;10|15 Ref Hom;A>G 247;0|7 N N - 1 200243064 200243065 TA T indel intergenic NR5A2 Nr5a2 ENSG00000116833 nuclear receptor subfamily 5 group A member 2 chr1:199996730-200146552 The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone; Creatinine; Tobacco Use Disorder; Hemoglobins; Neuroblastoma; Body Weight; Bone Density; osteoporosis; pancreatic cancer; Erythrocyte Count; Pancreatic Neoplasms Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length. Nuclear Receptor transcription pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0008206;bile acid metabolic process;IEA|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0009790;embryo development;TAS|GO:0009888;tissue development;IBA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042592;homeostatic process;NAS|GO:0042632;cholesterol homeostasis;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0061113;pancreas morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0008206;bile acid metabolic process;IEA|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0009790;embryo development;TAS|GO:0009888;tissue development;IBA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042592;homeostatic process;NAS|GO:0042632;cholesterol homeostasis;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0061113;pancreas morphogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0090575;RNA polymerase II transcription factor complex;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0008289;lipid binding;IEA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NR5A2 https://www.uniprot.org/uniprot/O00482 https://www.ncbi.nlm.nih.gov/omim/?term=604453 http://www.informatics.jax.org/searchtool/Search.do?query=NR5A2&submit=Quick%0D%121ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NR5A2 Na 0 0 0 1 0 0 intergenic intergenic intergenic NR5A2(dist=96514),LINC00862(dist=68607) NR5A2(dist=96514),LINC00862(dist=68607) ENSG00000233827(dist=59421),ENSG00000273093(dist=41498) Na Na Na Na Na Na Het;-A 108;12|6 Het;-A 137;1|5 Hom;-A 88;0|3 N N - 1 200243066 200243066 T TCTTC indel intergenic NR5A2 Nr5a2 ENSG00000116833 nuclear receptor subfamily 5 group A member 2 chr1:199996730-200146552 The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone; Creatinine; Tobacco Use Disorder; Hemoglobins; Neuroblastoma; Body Weight; Bone Density; osteoporosis; pancreatic cancer; Erythrocyte Count; Pancreatic Neoplasms Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length. Nuclear Receptor transcription pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0008206;bile acid metabolic process;IEA|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0009790;embryo development;TAS|GO:0009888;tissue development;IBA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042592;homeostatic process;NAS|GO:0042632;cholesterol homeostasis;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0061113;pancreas morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0008206;bile acid metabolic process;IEA|GO:0009755;hormone-mediated signaling pathway;IBA|GO:0009790;embryo development;TAS|GO:0009888;tissue development;IBA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042592;homeostatic process;NAS|GO:0042632;cholesterol homeostasis;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0061113;pancreas morphogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0090575;RNA polymerase II transcription factor complex;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0008289;lipid binding;IEA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NR5A2 https://www.uniprot.org/uniprot/O00482 https://www.ncbi.nlm.nih.gov/omim/?term=604453 http://www.informatics.jax.org/searchtool/Search.do?query=NR5A2&submit=Quick%0D%121ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NR5A2 Na 0 0 0 1 0 0 intergenic intergenic intergenic NR5A2(dist=96516),LINC00862(dist=68606) NR5A2(dist=96516),LINC00862(dist=68606) ENSG00000233827(dist=59423),ENSG00000273093(dist=41497) Na Na Na Na Na Na Het;+CTTC 189;9|8 Het;+CTTC 138;1|5 Hom;+CTTC 88;0|3 N N - 1 200312546 200312547 CA C indel ncRNA_intronic LINC00862 rs397982587 0 0 0.4906 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00862 LINC00862 ENSG00000203721 Na Na Na Na Na Na Het;-A 558;6|32 Ref Hom;-A 659;0|31 N N - 1 200550166 200550166 C T snp intronic KIF14 Kif14 ENSG00000118193 kinesin family member 14 chr1:200520628-200589862 This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] Meckel syndrome 12 Mice homozygous for a spontaneous mutation or targeted allele exhibit severe brain malformations, neurological defects and hypomyelination. RHO GTPases activate CIT GO:0001558;regulation of cell growth;IMP|GO:0007018;microtubule-based movement;IBA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IMP|GO:0021685;cerebellar granular layer structural organization;IEA|GO:0021693;cerebellar Purkinje cell layer structural organization;IEA|GO:0021695;cerebellar cortex development;IEA|GO:0021766;hippocampus development;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021846;cell proliferation in forebrain;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030155;regulation of cell adhesion;IMP|GO:0030334;regulation of cell migration;IMP|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0031641;regulation of myelination;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0032487;regulation of Rap protein signal transduction;IMP|GO:0033624;negative regulation of integrin activation;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045184;establishment of protein localization;IDA|GO:0051301;cell division;IEA|GO:1903047;mitotic cell cycle process;IMP|GO:1903429;regulation of cell maturation;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IPI|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0051233;spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IEA|GO:0015631;tubulin binding;IEA|GO:0016887;ATPase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0030165;PDZ domain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIF14 https://www.uniprot.org/uniprot/Q15058 https://hpo.jax.org/app/browse/search?q=KIF14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611279 http://www.informatics.jax.org/searchtool/Search.do?query=KIF14&submit=Quick%0D%4948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF14 rs12093062 0.257987 0 0 1 0 0 intronic intronic intronic KIF14 KIF14 ENSG00000118193 Na Na Na Na Na Na Het;C>T 39;3|2 Ref Hom;C>T 179;0|5 N N - 1 200578219 200578219 T C snp intronic KIF14 Kif14 ENSG00000118193 kinesin family member 14 chr1:200520628-200589862 This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] Meckel syndrome 12 Mice homozygous for a spontaneous mutation or targeted allele exhibit severe brain malformations, neurological defects and hypomyelination. RHO GTPases activate CIT GO:0001558;regulation of cell growth;IMP|GO:0007018;microtubule-based movement;IBA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IMP|GO:0021685;cerebellar granular layer structural organization;IEA|GO:0021693;cerebellar Purkinje cell layer structural organization;IEA|GO:0021695;cerebellar cortex development;IEA|GO:0021766;hippocampus development;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021846;cell proliferation in forebrain;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030155;regulation of cell adhesion;IMP|GO:0030334;regulation of cell migration;IMP|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0031641;regulation of myelination;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0032487;regulation of Rap protein signal transduction;IMP|GO:0033624;negative regulation of integrin activation;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045184;establishment of protein localization;IDA|GO:0051301;cell division;IEA|GO:1903047;mitotic cell cycle process;IMP|GO:1903429;regulation of cell maturation;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IPI|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0051233;spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IEA|GO:0015631;tubulin binding;IEA|GO:0016887;ATPase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0030165;PDZ domain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KIF14 https://www.uniprot.org/uniprot/Q15058 https://hpo.jax.org/app/browse/search?q=KIF14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611279 http://www.informatics.jax.org/searchtool/Search.do?query=KIF14&submit=Quick%0D%4948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF14 rs57254772 0.26258 0 0 1 0 0 intronic intronic intronic KIF14 KIF14 ENSG00000118193 Na Na Na Na Na Na Het;T>C 72;4|3 Ref Hom;T>C 183;0|5 N N - 1 201104341 201104341 T TA indel UTR3 *450A>TA TMEM9 Tmem9 ENSG00000116857 transmembrane protein 9 chr1:201103900-201140702 Hip; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0008150;biological_process;ND GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM9 https://www.uniprot.org/uniprot/Q9P0T7 https://www.ncbi.nlm.nih.gov/omim/?term=616877 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM9&submit=Quick%0D%4802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM9 rs35874939 0.334465 0 0 1 0 0 UTR3 UTR3 UTR3 TMEM9(NM_016456:c.*450A>TA,NM_001288570:c.*450A>TA,NM_001288568:c.*450A>TA,NM_001288569:c.*450A>TA,NM_001288567:c.*450A>TA,NM_001288566:c.*450A>TA,NM_001288571:c.*450A>TA,NM_001288565:c.*450A>TA,NM_001288564:c.*450A>TA) TMEM9(uc001gvx.3:c.*450A>TA,uc001gvy.3:c.*450A>TA,uc010ppo.2:c.*450A>TA,uc001gvz.3:c.*450A>TA,uc001gwa.3:c.*450A>TA) ENSG00000116857(ENST00000367333:c.*450A>TA,ENST00000367334:c.*450A>TA,ENST00000367332:c.*450A>TA,ENST00000367330:c.*450A>TA) Na Na Na Na Na Na Het;+A 2606;97|91 Het;+A 2411;87|82 Hom;+A 5375;0|157 N N - 1 201104589 201104589 A G snp UTR3 *202T>C TMEM9 Tmem9 ENSG00000116857 transmembrane protein 9 chr1:201103900-201140702 Hip; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0008150;biological_process;ND GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM9 https://www.uniprot.org/uniprot/Q9P0T7 https://www.ncbi.nlm.nih.gov/omim/?term=616877 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM9&submit=Quick%0D%4802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM9 rs1059625 0.335663 0 0 1 0 0 UTR3 UTR3 UTR3 TMEM9(NM_016456:c.*202T>C,NM_001288570:c.*202T>C,NM_001288568:c.*202T>C,NM_001288569:c.*202T>C,NM_001288567:c.*202T>C,NM_001288566:c.*202T>C,NM_001288571:c.*202T>C,NM_001288565:c.*202T>C,NM_001288564:c.*202T>C) TMEM9(uc001gvx.3:c.*202T>C,uc001gvy.3:c.*202T>C,uc010ppo.2:c.*202T>C,uc001gvz.3:c.*202T>C,uc001gwa.3:c.*202T>C) ENSG00000116857(ENST00000367333:c.*202T>C,ENST00000367334:c.*202T>C,ENST00000367332:c.*202T>C,ENST00000367330:c.*202T>C) Na Na Na Na Na Na Het;A>G 1734;108|77 Het;A>G 833;69|40 Hom;A>G 3656;0|129 N N - 1 201190732 201190732 G A snp synonymous SNV G10059A V3353V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IGFN1 Igfn1 ENSG00000163395 immunoglobulin-like and fibronectin type III domain containing 1 chr1:201159953-201198080 Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGFN1 https://www.ncbi.nlm.nih.gov/omim/?term=617309 http://www.informatics.jax.org/searchtool/Search.do?query=IGFN1&submit=Quick%0D%10955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFN1 rs3738269 0.220647 0.2334 0.2617 1 0 0 exonic exonic exonic IGFN1 IGFN1 ENSG00000163395 synonymous SNV synonymous SNV unknown IGFN1:NM_001164586:exon19:c.G10059A:p.V3353V, IGFN1:uc001gwc.3:exon19:c.G10059A:p.V3353V, UNKNOWN Het;G>A 1908;129|92 Het;G>A 1653;113|80 Hom;G>A 4818;2|173 N N - 1 201195296 201195296 G A snp intronic IGFN1 Igfn1 ENSG00000163395 immunoglobulin-like and fibronectin type III domain containing 1 chr1:201159953-201198080 Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030018;Z disc;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGFN1 https://www.ncbi.nlm.nih.gov/omim/?term=617309 http://www.informatics.jax.org/searchtool/Search.do?query=IGFN1&submit=Quick%0D%10955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFN1 rs3738271 0.188898 0.1613 0.1740 1 0 0 intronic intronic intronic IGFN1 IGFN1 ENSG00000163395 Na Na Na Na Na Na Het;G>A 145;14|8 Het;G>A 382;20|16 Hom;G>A 1177;0|39 N N - 1 201252866 201252866 C T snp synonymous SNV C36T Y12Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic PKP1 Pkp1 ENSG00000081277 plakophilin 1 chr1:201252580-201302121 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Cholesterol; Asthma; Body Weight; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; Body Mass Index; Panic Disorder; Heart Diseases; panic disorder; Hip; smoking cessation Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation. Formation of the cornified envelope GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0031424;keratinization;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045110;intermediate filament bundle assembly;IDA|GO:0070268;cornification;TAS|GO:1902373;negative regulation of mRNA catabolic process;IMP GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;TAS|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS|GO:1990124;messenger ribonucleoprotein complex;IDA GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IDA|GO:0019215;intermediate filament binding;NAS|GO:0030280;structural constituent of epidermis;NAS http://www.genecards.org/index.php?path=/Search/keyword/PKP1 https://www.uniprot.org/uniprot/Q13835 https://hpo.jax.org/app/browse/search?q=PKP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601975 http://www.informatics.jax.org/searchtool/Search.do?query=PKP1&submit=Quick%0D%1768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKP1 rs2268147 0.180312 0.1736 0.1217 1 0 0 exonic exonic exonic PKP1 PKP1 ENSG00000081277 synonymous SNV synonymous SNV unknown PKP1:NM_001005337:exon1:c.C36T:p.Y12Y,PKP1:NM_000299:exon1:c.C36T:p.Y12Y, PKP1:uc001gwe.3:exon1:c.C36T:p.Y12Y,PKP1:uc001gwd.3:exon1:c.C36T:p.Y12Y, UNKNOWN Het;C>T 1058;61|49 Het;C>T 1039;57|50 Hom;C>T 3136;1|119 N N - 1 202566200 202566200 T C snp intronic SYT2 Syt2 ENSG00000143858 synaptotagmin 2 chr1:202559724-202679545 This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Presynaptic congenital myasthenic syndromes Mice homozygous for an ENU-induced allele are viable but sterile, weigh less and show ataxia and altered spontaneous and Ca2+-evoked neurotransmitter release. Mice homozygous for a null allele die at weaning showing growth arrest, motor dysfunction and impaired Ca2+-evoked neurotransmitter release. Clathrin-mediated endocytosis GO:0006906;vesicle fusion;IBA|GO:0007269;neurotransmitter secretion;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061024;membrane organization;TAS|GO:1903861;positive regulation of dendrite extension;IDA GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SYT2 https://www.uniprot.org/uniprot/Q8N9I0 https://hpo.jax.org/app/browse/search?q=SYT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600104 http://www.informatics.jax.org/searchtool/Search.do?query=SYT2&submit=Quick%0D%8527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT2 rs9633344 0.649161 0 0 1 0 0 intronic intronic intronic SYT2 SYT2 ENSG00000143858 Na Na Na Na Na Na Het;T>C 469;9|20 Het;T>C 72;15|5 Hom;T>C 368;0|13 N N - 1 202572105 202572107 GCC G indel intronic SYT2 Syt2 ENSG00000143858 synaptotagmin 2 chr1:202559724-202679545 This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Presynaptic congenital myasthenic syndromes Mice homozygous for an ENU-induced allele are viable but sterile, weigh less and show ataxia and altered spontaneous and Ca2+-evoked neurotransmitter release. Mice homozygous for a null allele die at weaning showing growth arrest, motor dysfunction and impaired Ca2+-evoked neurotransmitter release. Clathrin-mediated endocytosis GO:0006906;vesicle fusion;IBA|GO:0007269;neurotransmitter secretion;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061024;membrane organization;TAS|GO:1903861;positive regulation of dendrite extension;IDA GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SYT2 https://www.uniprot.org/uniprot/Q8N9I0 https://hpo.jax.org/app/browse/search?q=SYT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600104 http://www.informatics.jax.org/searchtool/Search.do?query=SYT2&submit=Quick%0D%8527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT2 rs397982663 0.636781 0.5808 0.6284 1 0 0 intronic intronic intronic SYT2 SYT2 ENSG00000143858 Na Na Na Na Na Na Het;-CC 569;6|16 Het;-CC 356;12|11 Hom;-CC 684;0|18 N N - 1 202574784 202574784 G A snp synonymous SNV C117T S39S polar,hydrophilic,neutral polar,hydrophilic,neutral SYT2 Syt2 ENSG00000143858 synaptotagmin 2 chr1:202559724-202679545 This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Presynaptic congenital myasthenic syndromes Mice homozygous for an ENU-induced allele are viable but sterile, weigh less and show ataxia and altered spontaneous and Ca2+-evoked neurotransmitter release. Mice homozygous for a null allele die at weaning showing growth arrest, motor dysfunction and impaired Ca2+-evoked neurotransmitter release. Clathrin-mediated endocytosis GO:0006906;vesicle fusion;IBA|GO:0007269;neurotransmitter secretion;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061024;membrane organization;TAS|GO:1903861;positive regulation of dendrite extension;IDA GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0045202;synapse;IEA GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IBA|GO:0019905;syntaxin binding;IBA|GO:0030276;clathrin binding;IBA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SYT2 https://www.uniprot.org/uniprot/Q8N9I0 https://hpo.jax.org/app/browse/search?q=SYT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600104 http://www.informatics.jax.org/searchtool/Search.do?query=SYT2&submit=Quick%0D%8527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT2 rs1968583 0.358826 0.4030 0.4699 1 0 0 exonic exonic exonic SYT2 SYT2 ENSG00000143858 synonymous SNV synonymous SNV unknown SYT2:NM_001136504:exon2:c.C117T:p.S39S,SYT2:NM_177402:exon2:c.C117T:p.S39S, SYT2:uc010pqb.2:exon2:c.C117T:p.S39S,SYT2:uc001gye.3:exon2:c.C117T:p.S39S, UNKNOWN Het;G>A 1478;84|67 Het;G>A 1395;48|66 Hom;G>A 2819;0|106 N N - 1 202993891 202993891 A G snp UTR3 *1723A>G TMEM183A Tmem183a ENSG00000163444 transmembrane protein 183A chr1:202976514-202993976 Hypertension GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM183A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM183A&submit=Quick%0D%10966ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM183A rs1046542 0.146366 0 0 1 0 0 downstream downstream UTR3 TMEM183A TMEM183A ENSG00000163444(ENST00000367242:c.*1723A>G) Na Na Na Na Na Na Het;A>G 605;46|30 Het;A>G 220;47|15 Hom;A>G 2884;0|107 N N - 1 203143395 203143395 T C snp intronic MYBPH Mybph ENSG00000133055 myosin binding protein H chr1:203136939-203144941 Hypertension GO:0006942;regulation of striated muscle contraction;TAS|GO:0007015;actin filament organization;IBA|GO:0007155;cell adhesion;IEA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA|GO:0032982;myosin filament;IEA GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MYBPH https://www.uniprot.org/uniprot/Q13203 https://www.ncbi.nlm.nih.gov/omim/?term=160795 http://www.informatics.jax.org/searchtool/Search.do?query=MYBPH&submit=Quick%0D%6784ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBPH rs3737872 0.207069 0 0 1 0 0 intronic intronic intronic MYBPH MYBPH ENSG00000133055 Na Na Na Na Na Na Het;T>C 38;2|2 Ref Hom;T>C 130;0|4 N N - 1 203274536 203274536 C A snp upstream BTG2 Btg2 ENSG00000159388 BTG anti-proliferation factor 2 chr1:203274619-203278730 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008] Body Height Homozygous null Btg2tm1Wbh mice do not exhibit an overt phenotype. Homozygous null Btg2tm1Spo mice exhibit posterior homeotic transformations of the axial vertebrae. TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006281;DNA repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006479;protein methylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0008306;associative learning;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010033;response to organic substance;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0017148;negative regulation of translation;IDA|GO:0021542;dentate gyrus development;IEA|GO:0021954;central nervous system neuron development;IEA|GO:0030182;neuron differentiation;IEA|GO:0031175;neuron projection development;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0060213;positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:2000178;negative regulation of neural precursor cell proliferation;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTG2 https://www.ncbi.nlm.nih.gov/omim/?term=601597 http://www.informatics.jax.org/searchtool/Search.do?query=BTG2&submit=Quick%0D%10332ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTG2 rs6682221 0.85024 0 0 1 0 0 upstream upstream upstream BTG2,LINC01136 BTG2,LOC730227 ENSG00000159388,ENSG00000233791 Na Na Na Na Na Na Het;C>A 40;8|3 Het;C>A 228;1|7 Hom;C>A 169;0|8 N N - 1 203309752 203309752 T C snp UTR3 *1719A>G FMOD Fmod ENSG00000122176 fibromodulin chr1:203309756-203320617 Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Hypertension; Myopia; Schizophrenia Mice homozygous for a targeted null mutation contain more immature, small diameter collagen fibrils in the tendon and display an increase in age-dependent osteoarthritis and degenerative changes of the articular cartilage. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) GO:0007181;transforming growth factor beta receptor complex assembly;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030199;collagen fibril organization;IEA|GO:0042340;keratan sulfate catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS http://www.genecards.org/index.php?path=/Search/keyword/FMOD https://www.uniprot.org/uniprot/Q06828 https://www.ncbi.nlm.nih.gov/omim/?term=600245 http://www.informatics.jax.org/searchtool/Search.do?query=FMOD&submit=Quick%0D%5389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMOD rs2886220 0.257987 0 0 1 0 0 UTR3 UTR3 downstream FMOD(NM_002023:c.*1719A>G) FMOD(uc001gzr.3:c.*1719A>G) ENSG00000122176 Na Na Na Na Na Na Het;T>C 855;34|33 Het;T>C 714;29|30 Hom;T>C 1564;0|56 N N - 1 203309880 203309880 G A snp UTR3 *1591C>T FMOD Fmod ENSG00000122176 fibromodulin chr1:203309756-203320617 Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Hypertension; Myopia; Schizophrenia Mice homozygous for a targeted null mutation contain more immature, small diameter collagen fibrils in the tendon and display an increase in age-dependent osteoarthritis and degenerative changes of the articular cartilage. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) GO:0007181;transforming growth factor beta receptor complex assembly;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030199;collagen fibril organization;IEA|GO:0042340;keratan sulfate catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS http://www.genecards.org/index.php?path=/Search/keyword/FMOD https://www.uniprot.org/uniprot/Q06828 https://www.ncbi.nlm.nih.gov/omim/?term=600245 http://www.informatics.jax.org/searchtool/Search.do?query=FMOD&submit=Quick%0D%5389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMOD rs7208 0.248003 0 0 1 0 0 UTR3 UTR3 UTR3 FMOD(NM_002023:c.*1591C>T) FMOD(uc001gzr.3:c.*1591C>T) ENSG00000122176(ENST00000354955:c.*1591C>T) Na Na Na Na Na Na Het;G>A 1559;72|66 Het;G>A 1495;79|67 Hom;G>A 3486;0|126 N N - 1 203311216 203311216 T C snp UTR3 *255A>G FMOD Fmod ENSG00000122176 fibromodulin chr1:203309756-203320617 Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Hypertension; Myopia; Schizophrenia Mice homozygous for a targeted null mutation contain more immature, small diameter collagen fibrils in the tendon and display an increase in age-dependent osteoarthritis and degenerative changes of the articular cartilage. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) GO:0007181;transforming growth factor beta receptor complex assembly;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030199;collagen fibril organization;IEA|GO:0042340;keratan sulfate catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS http://www.genecards.org/index.php?path=/Search/keyword/FMOD https://www.uniprot.org/uniprot/Q06828 https://www.ncbi.nlm.nih.gov/omim/?term=600245 http://www.informatics.jax.org/searchtool/Search.do?query=FMOD&submit=Quick%0D%5389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMOD rs3738022 0.257788 0 0 1 0 0 UTR3 UTR3 UTR3 FMOD(NM_002023:c.*255A>G) FMOD(uc001gzr.3:c.*255A>G) ENSG00000122176(ENST00000354955:c.*255A>G) Na Na Na Na Na Na Het;T>C 1345;67|58 Het;T>C 1027;43|43 Hom;T>C 2578;0|88 N N - 1 203667536 203667536 A G snp intronic ATP2B4 Atp2b4 ENSG00000058668 ATPase plasma membrane Ca2+ transporting 4 chr1:203595689-203713209 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Iron; Hypertension; Hemoglobins; Tobacco Use Disorder Homozygous null mice display male infertility with impaired sperm motility. Ion transport by P-type ATPases GO:0003407;neural retina development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IC|GO:0007283;spermatogenesis;IEA|GO:0010751;negative regulation of nitric oxide mediated signal transduction;IDA|GO:0021766;hippocampus development;IEA|GO:0030317;flagellated sperm motility;ISS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0045019;negative regulation of nitric oxide biosynthetic process;IDA|GO:0051001;negative regulation of nitric-oxide synthase activity;IDA|GO:0051599;response to hydrostatic pressure;IMP|GO:0070588;calcium ion transmembrane transport;IMP|GO:0070885;negative regulation of calcineurin-NFAT signaling cascade;IDA|GO:0071872;cellular response to epinephrine stimulus;IDA|GO:0097553;calcium ion transmembrane import into cytosol;IC|GO:0098703;calcium ion import across plasma membrane;IC|GO:0098736;negative regulation of the force of heart contraction;IDA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1900082;negative regulation of arginine catabolic process;IDA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;IDA|GO:1901660;calcium ion export;IEA|GO:1902083;negative regulation of peptidyl-cysteine S-nitrosylation;NAS|GO:1902305;regulation of sodium ion transmembrane transport;IC|GO:1902806;regulation of cell cycle G1/S phase transition;IMP|GO:1903243;negative regulation of cardiac muscle hypertrophy in response to stress;IMP|GO:1903249;negative regulation of citrulline biosynthetic process;IDA|GO:1903779;regulation of cardiac conduction;TAS|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;IDA|GO:0036126;sperm flagellum;ISS|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0043234;protein complex;ISS|GO:0097228;sperm principal piece;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017080;sodium channel regulator activity;ISS|GO:0019901;protein kinase binding;IEA|GO:0030165;PDZ domain binding;IBA|GO:0030346;protein phosphatase 2B binding;IDA|GO:0036487;nitric-oxide synthase inhibitor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0050998;nitric-oxide synthase binding;IPI|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ATP2B4 https://www.uniprot.org/uniprot/P23634 https://www.ncbi.nlm.nih.gov/omim/?term=108732 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B4&submit=Quick%0D%1037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B4 rs6676272 0.391174 0 0 1 0 0 intronic intronic intronic ATP2B4 ATP2B4 ENSG00000058668 Na Na Na Na Na Na Het;A>G 413;21|16 Het;A>G 202;4|7 Hom;A>G 595;0|20 N N - 1 203670128 203670128 A T snp intronic ATP2B4 Atp2b4 ENSG00000058668 ATPase plasma membrane Ca2+ transporting 4 chr1:203595689-203713209 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Iron; Hypertension; Hemoglobins; Tobacco Use Disorder Homozygous null mice display male infertility with impaired sperm motility. Ion transport by P-type ATPases GO:0003407;neural retina development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IC|GO:0007283;spermatogenesis;IEA|GO:0010751;negative regulation of nitric oxide mediated signal transduction;IDA|GO:0021766;hippocampus development;IEA|GO:0030317;flagellated sperm motility;ISS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0045019;negative regulation of nitric oxide biosynthetic process;IDA|GO:0051001;negative regulation of nitric-oxide synthase activity;IDA|GO:0051599;response to hydrostatic pressure;IMP|GO:0070588;calcium ion transmembrane transport;IMP|GO:0070885;negative regulation of calcineurin-NFAT signaling cascade;IDA|GO:0071872;cellular response to epinephrine stimulus;IDA|GO:0097553;calcium ion transmembrane import into cytosol;IC|GO:0098703;calcium ion import across plasma membrane;IC|GO:0098736;negative regulation of the force of heart contraction;IDA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1900082;negative regulation of arginine catabolic process;IDA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;IDA|GO:1901660;calcium ion export;IEA|GO:1902083;negative regulation of peptidyl-cysteine S-nitrosylation;NAS|GO:1902305;regulation of sodium ion transmembrane transport;IC|GO:1902806;regulation of cell cycle G1/S phase transition;IMP|GO:1903243;negative regulation of cardiac muscle hypertrophy in response to stress;IMP|GO:1903249;negative regulation of citrulline biosynthetic process;IDA|GO:1903779;regulation of cardiac conduction;TAS|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;IDA|GO:0036126;sperm flagellum;ISS|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0043234;protein complex;ISS|GO:0097228;sperm principal piece;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017080;sodium channel regulator activity;ISS|GO:0019901;protein kinase binding;IEA|GO:0030165;PDZ domain binding;IBA|GO:0030346;protein phosphatase 2B binding;IDA|GO:0036487;nitric-oxide synthase inhibitor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0050998;nitric-oxide synthase binding;IPI|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ATP2B4 https://www.uniprot.org/uniprot/P23634 https://www.ncbi.nlm.nih.gov/omim/?term=108732 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B4&submit=Quick%0D%1037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B4 rs3820197 0.365216 0 0 1 0 0 intronic intronic intronic ATP2B4 ATP2B4 ENSG00000058668 Na Na Na Na Na Na Het;A>T 424;18|19 Het;A>T 324;22|16 Hom;A>T 737;0|29 N N - 1 203670179 203670179 A G snp intronic ATP2B4 Atp2b4 ENSG00000058668 ATPase plasma membrane Ca2+ transporting 4 chr1:203595689-203713209 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Iron; Hypertension; Hemoglobins; Tobacco Use Disorder Homozygous null mice display male infertility with impaired sperm motility. Ion transport by P-type ATPases GO:0003407;neural retina development;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IC|GO:0007283;spermatogenesis;IEA|GO:0010751;negative regulation of nitric oxide mediated signal transduction;IDA|GO:0021766;hippocampus development;IEA|GO:0030317;flagellated sperm motility;ISS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0045019;negative regulation of nitric oxide biosynthetic process;IDA|GO:0051001;negative regulation of nitric-oxide synthase activity;IDA|GO:0051599;response to hydrostatic pressure;IMP|GO:0070588;calcium ion transmembrane transport;IMP|GO:0070885;negative regulation of calcineurin-NFAT signaling cascade;IDA|GO:0071872;cellular response to epinephrine stimulus;IDA|GO:0097553;calcium ion transmembrane import into cytosol;IC|GO:0098703;calcium ion import across plasma membrane;IC|GO:0098736;negative regulation of the force of heart contraction;IDA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1900082;negative regulation of arginine catabolic process;IDA|GO:1901205;negative regulation of adrenergic receptor signaling pathway involved in heart process;IDA|GO:1901660;calcium ion export;IEA|GO:1902083;negative regulation of peptidyl-cysteine S-nitrosylation;NAS|GO:1902305;regulation of sodium ion transmembrane transport;IC|GO:1902806;regulation of cell cycle G1/S phase transition;IMP|GO:1903243;negative regulation of cardiac muscle hypertrophy in response to stress;IMP|GO:1903249;negative regulation of citrulline biosynthetic process;IDA|GO:1903779;regulation of cardiac conduction;TAS|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030018;Z disc;IDA|GO:0030315;T-tubule;IDA|GO:0036126;sperm flagellum;ISS|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0043234;protein complex;ISS|GO:0097228;sperm principal piece;IEA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017080;sodium channel regulator activity;ISS|GO:0019901;protein kinase binding;IEA|GO:0030165;PDZ domain binding;IBA|GO:0030346;protein phosphatase 2B binding;IDA|GO:0036487;nitric-oxide synthase inhibitor activity;IDA|GO:0046872;metal ion binding;IEA|GO:0050998;nitric-oxide synthase binding;IPI|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ATP2B4 https://www.uniprot.org/uniprot/P23634 https://www.ncbi.nlm.nih.gov/omim/?term=108732 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B4&submit=Quick%0D%1037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B4 rs3766752 0.369209 0 0 1 0 0 intronic intronic intronic ATP2B4 ATP2B4 ENSG00000058668 Na Na Na Na Na Na Het;A>G 312;7|11 Het;A>G 190;10|9 Hom;A>G 230;0|7 N N - 1 203830512 203830515 ACTC A indel upstream SNRPE Snrpert ENSG00000182004 small nuclear ribonucleoprotein polypeptide E chr1:203830731-203839678 The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016] Autosomal-Dominant Hypotrichosis Simplex Mice heterozygous for an ENU-induced mutation display severely decreased testis weight and reduced spermatogenesis. SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs GO:0000245;spliceosomal complex assembly;NAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0008334;histone mRNA metabolic process;TAS|GO:0008380;RNA splicing;IEA|GO:0042633;hair cycle;IMP|GO:0051170;nuclear import;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005683;U7 snRNP;IDA|GO:0005685;U1 snRNP;IDA|GO:0005687;U4 snRNP;IDA|GO:0005689;U12-type spliceosomal complex;IDA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030532;small nuclear ribonucleoprotein complex;NAS|GO:0034709;methylosome;IDA|GO:0034715;pICln-Sm protein complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:1990446;U1 snRNP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNRPE https://hpo.jax.org/app/browse/search?q=SNRPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=128260 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPE&submit=Quick%0D%14702ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPE rs143671677 0 0 0 1 0 0 upstream upstream upstream SNRPE SNRPE ENSG00000182004 Na Na Na Na Na Na Het;-CTC 77;4|3 Ref Hom;-CTC 188;0|5 N N - 1 204621056 204621056 T C snp intronic LRRN2 Lrrn2 ENSG00000170382 leucine rich repeat neuronal 2 chr1:204586298-204654861 The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Cholesterol, LDL Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007409;axonogenesis;IBA GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/LRRN2 https://www.ncbi.nlm.nih.gov/omim/?term=605492 http://www.informatics.jax.org/searchtool/Search.do?query=LRRN2&submit=Quick%0D%12692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRN2 rs61170670 0.373802 0 0 1 0 0 intronic intronic intronic LRRN2 LRRN2 ENSG00000170382 Na Na Na Na Na Na Het;T>C 66;7|4 Het;T>C 81;7|6 Hom;T>C 170;0|8 N N - 1 205814485 205814485 G A snp nonsynonymous SNV C457T R153W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral PM20D1 Pm20d1 ENSG00000162877 peptidase M20 domain containing 1 chr1:205797150-205819260 Parkinson's disease; HIV Infections|[X]Human immunodeficiency virus disease GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0043604;amide biosynthetic process;IDA|GO:0043605;cellular amide catabolic process;IDA|GO:0044255;cellular lipid metabolic process;IDA|GO:0097009;energy homeostasis;IEA|GO:1901215;negative regulation of neuron death;IMP|GO:1990845;adaptive thermogenesis;IEA|GO:2000275;regulation of oxidative phosphorylation uncoupler activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PM20D1 https://www.ncbi.nlm.nih.gov/omim/?term=617124 http://www.informatics.jax.org/searchtool/Search.do?query=PM20D1&submit=Quick%0D%10818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PM20D1 rs1104899 0.2498 0.2337 0.2634 0.69 9 13 exonic exonic exonic PM20D1 PM20D1 ENSG00000162877 nonsynonymous SNV nonsynonymous SNV unknown PM20D1:NM_152491:exon3:c.C457T:p.R153W, PM20D1:uc001hdj.3:exon3:c.C457T:p.R153W, UNKNOWN Het;G>A 1885;85|75 Het;G>A 1317;57|59 Hom;G>A 3137;2|115 N N - 1 206648037 206648037 C G snp intronic IKBKE Ikbke ENSG00000263528 inhibitor of nuclear factor kappa B kinase subunit epsilon chr1:206643791-206670223 IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009] Arthritis, Rheumatoid|; Dengue Hemorrhagic Fever; Cleft Lip|Cleft Palate; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; major depressive disorder and panic disorder Homozygous null mice are viable and fertile. Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007252;I-kappaB phosphorylation;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0010884;positive regulation of lipid storage;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0034340;response to type I interferon;IEA|GO:0035456;response to interferon-beta;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0045087;innate immune response;IBA|GO:0051260;protein homooligomerization;IDA|GO:0098586;cellular response to virus;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;TAS|GO:0016605;PML body;IDA|GO:0031966;mitochondrial membrane;IMP GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036435;K48-linked polyubiquitin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/IKBKE https://www.ncbi.nlm.nih.gov/omim/?term=605048 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKE&submit=Quick%0D%20573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKE rs2297546 0.638379 0 0 1 0 0 intronic intronic intronic IKBKE IKBKE ENSG00000143466 Na Na Na Na Na Na Het;C>G 287;8|9 Het;C>G 217;7|8 Hom;C>G 388;0|10 N N - 1 206649372 206649372 T C snp intronic IKBKE Ikbke ENSG00000263528 inhibitor of nuclear factor kappa B kinase subunit epsilon chr1:206643791-206670223 IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009] Arthritis, Rheumatoid|; Dengue Hemorrhagic Fever; Cleft Lip|Cleft Palate; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; major depressive disorder and panic disorder Homozygous null mice are viable and fertile. Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon GO:0006468;protein phosphorylation;IEA|GO:0006955;immune response;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007252;I-kappaB phosphorylation;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0010884;positive regulation of lipid storage;ISS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0034340;response to type I interferon;IEA|GO:0035456;response to interferon-beta;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0045087;innate immune response;IBA|GO:0051260;protein homooligomerization;IDA|GO:0098586;cellular response to virus;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;TAS|GO:0016605;PML body;IDA|GO:0031966;mitochondrial membrane;IMP GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036435;K48-linked polyubiquitin binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/IKBKE https://www.ncbi.nlm.nih.gov/omim/?term=605048 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKE&submit=Quick%0D%20573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKE rs11117901 0.592652 0 0 1 0 0 intronic intronic intronic IKBKE IKBKE ENSG00000143466 Na Na Na Na Na Na Het;T>C 70;4|3 Het;T>C 162;1|5 Hom;T>C 211;0|6 N N - 1 207143422 207143422 A G snp intronic FCAMR Fcamr ENSG00000162897 Fc fragment of IgA and IgM receptor chr1:207131310-207143970 Tobacco Use Disorder Homozygous null mice have enhanced germinal center formation, affinity maturation and memory induction of IgG3 producing B cells after immunization with T cell-independent antigens. Cell surface interactions at the vascular wall GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;IEA|GO:0050900;leukocyte migration;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001791;IgM binding;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0019862;IgA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCAMR https://www.ncbi.nlm.nih.gov/omim/?term=605484 http://www.informatics.jax.org/searchtool/Search.do?query=FCAMR&submit=Quick%0D%10828ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCAMR rs1856746 0.55012 0.5855 0.4725 1 0 0 intronic intronic intronic FCAMR FCAMR ENSG00000162897 Na Na Na Na Na Na Het;A>G 661;56|34 Het;A>G 584;40|32 Hom;A>G 1862;0|71 N N - 1 207643949 207643949 G A snp intronic CR2 Cr2 ENSG00000117322 complement C3d receptor 2 chr1:207627575-207663240 This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Diabetes Mellitus, Type 2; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; lupus erythematosus; Hypertension; Parkinson's disease ; Macular Degeneration; nasopharyngeal cancer; Lupus Erythematosus, Systemic; Lymphoma, Non-Hodgkin Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. Regulation of Complement cascade GO:0002376;immune system process;IEA|GO:0002430;complement receptor mediated signaling pathway;IEA|GO:0006955;immune response;NAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;IEA|GO:0016032;viral process;IEA|GO:0030183;B cell differentiation;IDA|GO:0030449;regulation of complement activation;TAS|GO:0042100;B cell proliferation;IDA|GO:0045087;innate immune response;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0001848;complement binding;IDA|GO:0003677;DNA binding;IDA|GO:0004875;complement receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CR2 https://www.uniprot.org/uniprot/P20023 https://hpo.jax.org/app/browse/search?q=CR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120650 http://www.informatics.jax.org/searchtool/Search.do?query=CR2&submit=Quick%0D%4862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CR2 rs10863322 0.540735 0 0 1 0 0 intronic intronic intronic CR2 CR2 ENSG00000117322 Na Na Na Na Na Na Het;G>A 295;1|10 Ref Hom;G>A 126;0|4 N N - 1 208440810 208440810 C CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG indel intergenic PLXNA2 Plxna2 ENSG00000076356 plexin A2 chr1:208195587-208417665 This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Parkinson's disease ; bone density fractures, vertebral osteoporosis, postmenopausal; schizophrenia; Cardiovascular Diseases; Cardiomegaly; anxiety depression neuroticism psychological distress; Blood Pressure Determination; Life Expectancy; Triglycerides; Hip; Blood Pressure; Neuroblastoma; Anxiety; Schizophrenia; Myocardial Infarction Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance. Other semaphorin interactions GO:0001756;somitogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0021785;branchiomotor neuron axon guidance;IBA|GO:0021915;neural tube development;IEA|GO:0021935;cerebellar granule cell precursor tangential migration;IEA|GO:0030334;regulation of cell migration;IEA|GO:0048841;regulation of axon extension involved in axon guidance;IBA|GO:0051642;centrosome localization;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060174;limb bud formation;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA GO:0002116;semaphorin receptor complex;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNA2 https://www.uniprot.org/uniprot/O75051 https://www.ncbi.nlm.nih.gov/omim/?term=601054 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNA2&submit=Quick%0D%1583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNA2 Na 0 0 0 1 0 0 intergenic intergenic intergenic PLXNA2(dist=23145),MIR205HG(dist=1161358) PLXNA2(dist=23145),MIR205HG(dist=1161358) ENSG00000226843(dist=12089),ENSG00000261453(dist=339635) Na Na Na Na Na Na Het;+CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG 118;4|3 Ref Hom;+CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG 300;0|7 N N - 1 210407329 210407330 GT G indel ncRNA_exonic SERTAD4-AS1 rs36086035 0.481629 0 0.2031 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic SERTAD4-AS1 SERTAD4-AS1(uc001hhx.4:c.-50_-51delinsC) ENSG00000203706 Na Na Na Na Na Na Het;-T 1490;46|45 Het;-T 1139;9|63 Hom;-T 1456;8|73 N N - 1 210502184 210502184 G T snp intronic HHAT Hhat ENSG00000280680 hedgehog acyltransferase chr1:210501596-210849638 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002] Erythrocyte Indices; Cholesterol; Tobacco Use Disorder Homozygous null mice display neonatal lethality, holoprosencephaly, short-limb dwarfism, and oligodactyly. Hedgehog ligand biogenesis GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0018345;protein palmitoylation;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005525;GTP binding;IEA|GO:0008374;O-acyltransferase activity;TAS|GO:0016409;palmitoyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/HHAT https://www.uniprot.org/uniprot/Q5VTY9 https://hpo.jax.org/app/browse/search?q=HHAT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605743 http://www.informatics.jax.org/searchtool/Search.do?query=HHAT&submit=Quick%0D%22234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HHAT rs12143851 0.0898562 0 0 1 0 0 intronic intronic intronic HHAT HHAT ENSG00000054392 Na Na Na Na Na Na Het;G>T 36;4|2 Ref Hom;G>T 101;0|4 N N - 1 211848035 211848035 C G snp intronic NEK2 Nek2 ENSG00000117650 NIMA related kinase 2 chr1:211836114-211848960 This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011] breast cancer; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder AURKA Activation by TPX2 GO:0000070;mitotic sister chromatid segregation;IEA|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;TAS|GO:0001824;blastocyst development;IEA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007088;regulation of mitotic nuclear division;TAS|GO:0016310;phosphorylation;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0043392;negative regulation of DNA binding;IEA|GO:0046602;regulation of mitotic centrosome separation;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0051225;spindle assembly;TAS|GO:0051299;centrosome separation;IDA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0090307;mitotic spindle assembly;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1903126;negative regulation of centriole-centriole cohesion;IMP|GO:1904355;positive regulation of telomere capping;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0030496;midbody;IEA|GO:0043234;protein complex;IMP GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK2 https://www.uniprot.org/uniprot/P51955 https://hpo.jax.org/app/browse/search?q=NEK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604043 http://www.informatics.jax.org/searchtool/Search.do?query=NEK2&submit=Quick%0D%4913ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK2 rs10494938 0.144369 0 0 1 0 0 intronic intronic intronic NEK2 NEK2 ENSG00000117650 Na Na Na Na Na Na Het;C>G 45;1|2 Ref Hom;C>G 175;0|5 N N - 1 213062158 213062158 T C snp intronic FLVCR1 Mfsd7b ENSG00000162769 feline leukemia virus subgroup C cellular receptor 1 chr1:213031597-213072705 This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011] Blood Pressure; Prostatic Neoplasms; Blood Coagulation Factors; Insulin Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. Iron uptake and transport GO:0001568;blood vessel development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006810;transport;TAS|GO:0006839;mitochondrial transport;IDA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0007275;multicellular organism development;TAS|GO:0015886;heme transport;IMP|GO:0030218;erythrocyte differentiation;IDA|GO:0035108;limb morphogenesis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0046620;regulation of organ growth;IEA|GO:0048536;spleen development;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0055085;transmembrane transport;IEA|GO:0060323;head morphogenesis;IEA|GO:0097037;heme export;IMP GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015232;heme transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FLVCR1 https://hpo.jax.org/app/browse/search?q=FLVCR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609144 http://www.informatics.jax.org/searchtool/Search.do?query=FLVCR1&submit=Quick%0D%10797ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLVCR1 rs10779595 0.445088 0 0 1 0 0 intronic intronic intronic FLVCR1 FLVCR1 ENSG00000162769 Na Na Na Na Na Na Het;T>C 38;6|2 Ref Hom;T>C 190;0|5 N N - 1 216496618 216496620 TTA T indel intronic USH2A Ush2a ENSG00000042781 usherin chr1:215796236-216596738 This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Hemoglobins; Hip; recessive retinitis pigmentosa; Blindness|Retinitis Pigmentosa; Retinitis Pigmentosa; Glucose; Usher Syndromes; smoking cessation; Body Height; hearing loss/deafness; retinal disease; Erythrocyte Count; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; Apolipoproteins C; usher syndrome; Retinal Diseases; Monocytes; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; retinitis pigmentosa; Usher syndrome; Prostatic Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea. GO:0007601;visual perception;IEA|GO:0007605;sensory perception of sound;IMP|GO:0035315;hair cell differentiation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0048496;maintenance of animal organ identity;IMP|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IMP|GO:0060113;inner ear receptor cell differentiation;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0002141;stereocilia ankle link;IEA|GO:0002142;stereocilia ankle link complex;IEA|GO:0005576;extracellular region;IEA|GO:0005604;basement membrane;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0032421;stereocilium bundle;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060171;stereocilium membrane;IEA|GO:1990075;periciliary membrane compartment;IEA|GO:1990696;USH2 complex;IEA GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0017022;myosin binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/USH2A https://www.uniprot.org/uniprot/O75445 https://hpo.jax.org/app/browse/search?q=USH2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608400 http://www.informatics.jax.org/searchtool/Search.do?query=USH2A&submit=Quick%0D%838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USH2A rs67957139 0 0 0 1 0 0 intronic intronic intronic USH2A USH2A ENSG00000042781 Na Na Na Na Na Na Het;-TA 39;1|3 Ref Hom;-TA 133;0|5 N N - 1 22016678 22016678 T TA indel intronic USP48 Usp48 ENSG00000090686 ubiquitin specific peptidase 48 chr1:22004791-22110099 This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Ub-specific processing proteases GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP48 https://www.uniprot.org/uniprot/Q86UV5 https://www.ncbi.nlm.nih.gov/omim/?term=617445 http://www.informatics.jax.org/searchtool/Search.do?query=USP48&submit=Quick%0D%2117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP48 rs11422483 0.482029 0 0 1 0 0 intronic intronic intronic USP48 USP48 ENSG00000090686 Na Na Na Na Na Na Het;+A 215;8|14 Het;+A 160;2|10 Hom;+A 311;0|15 N N - 1 222924147 222924148 CA C indel UTR3 *1365_*1365delinsC FAM177B ENSG00000197520 family with sequence similarity 177 member B chr1:222910549-222924147 Macular Degeneration; Psychomotor Performance http://www.genecards.org/index.php?path=/Search/keyword/FAM177B http://www.informatics.jax.org/searchtool/Search.do?query=FAM177B&submit=Quick%0D%16646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM177B rs397982980 0.623203 0 0 1 0 0 downstream ncRNA_intronic UTR3 FAM177B AK094916 ENSG00000197520(ENST00000391880:c.*1365_*1365delinsC) Na Na Na Na Na Na Het;-A 333;18|26 Het;-A 768;6|42 Hom;-A 689;3|36 N N - 1 231052296 231052296 G A snp intronic TTC13 Ttc13 ENSG00000143643 tetratricopeptide repeat domain 13 chr1:231041989-231114621 Triglycerides http://www.genecards.org/index.php?path=/Search/keyword/TTC13 https://www.uniprot.org/uniprot/Q8NBP0 http://www.informatics.jax.org/searchtool/Search.do?query=TTC13&submit=Quick%0D%8494ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC13 rs74734033 0.0892572 0 0 1 0 0 intronic intronic intronic TTC13 TTC13 ENSG00000143643 Na Na Na Na Na Na Het;G>A 164;6|5 Het;G>A 347;1|9 Hom;G>A 401;0|10 N N - 1 231052306 231052306 G A snp intronic TTC13 Ttc13 ENSG00000143643 tetratricopeptide repeat domain 13 chr1:231041989-231114621 Triglycerides http://www.genecards.org/index.php?path=/Search/keyword/TTC13 https://www.uniprot.org/uniprot/Q8NBP0 http://www.informatics.jax.org/searchtool/Search.do?query=TTC13&submit=Quick%0D%8494ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC13 rs4847026 0.663738 0 0 1 0 0 intronic intronic intronic TTC13 TTC13 ENSG00000143643 Na Na Na Na Na Na Het;G>A 167;5|5 Het;G>A 347;1|9 Hom;G>A 325;0|6 N N - 1 233760106 233760106 A G snp intronic KCNK1 Kcnk1 ENSG00000135750 potassium two pore domain channel subfamily K member 1 chr1:233749750-233808258 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] atherosclerosis Mice homozygous for a null mutation reduced urinary flow rates and on a low phosphate diet display an attenuated ability to increase renal phosphate reabsorption. Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035094;response to nicotine;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0060075;regulation of resting membrane potential;IMP|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IDA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031526;brush border membrane;IEA|GO:0034705;potassium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0055037;recycling endosome;IEA|GO:1902937;inward rectifier potassium channel complex;IEA GO:0005242;inward rectifier potassium channel activity;TAS|GO:0005267;potassium channel activity;TAS|GO:0005272;sodium channel activity;IDA|GO:0022841;potassium ion leak channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/KCNK1 https://www.uniprot.org/uniprot/O00180 https://www.ncbi.nlm.nih.gov/omim/?term=601745 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK1&submit=Quick%0D%7215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK1 rs633860 0.566494 0 0 1 0 0 intronic intronic intronic KCNK1 KCNK1 ENSG00000135750 Na Na Na Na Na Na Het;A>G 45;2|2 Ref Hom;A>G 96;0|3 N N - 1 234091511 234091511 G GT indel intronic SLC35F3 Slc35f3 ENSG00000183780 solute carrier family 35 member F3 chr1:234040679-234460262 Myocardial Infarction; Echocardiography; Albuminuria; Menopause; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Hypertrophy, Left Ventricular; Body Height; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0015888;thiamine transport;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F3 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F3&submit=Quick%0D%15075ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F3 rs551238786 0.290935 0 0 1 0 0 intronic intronic intronic SLC35F3 SLC35F3 ENSG00000183780 Na Na Na Na Na Na Het;+T 197;11|16 Het;+T 457;9|25 Hom;+T 499;4|29 N N - 1 234827677 234827677 C T snp ncRNA_intronic AL160408.3 rs685557 0.454073 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927787(dist=31007),LINC01132(dist=32112) BC032040(dist=31007),LOC100506810(dist=32112) ENSG00000230628 Na Na Na Na Na Na Het;C>T 188;4|6 Ref Hom;C>T 174;0|5 N N - 1 236398938 236398938 C T snp intronic ERO1LB rs1268614 0.251198 0 0 1 0 0 intronic intronic intronic ERO1LB ERO1LB ENSG00000086619 Na Na Na Na Na Na Het;C>T 32;4|2 Ref Hom;C>T 100;0|4 N N - 1 237037828 237037828 G A snp intronic MTR Mtr ENSG00000116984 5-methyltetrahydrofolate-homocysteine methyltransferase chr1:236958610-237067281 This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] cervical cancer; orofacial clefts; recurrent cardiovascular event; Down Syndrome|; Diseases in Twins|Myocardial ischemia; Edema|Malnutrition; leukemia; Autism; Alzheimer's disease|Parkinson's disease; Anemia, Iron-Deficiency|Avitaminosis; Down syndrome; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Congenital Abnormalities|; atherosclerosis, coronary; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; lymphoma, non-Hodgkin; DNA damage; head and neck cancer; Congenital Abnormalities; bipolar disorder schizophrenia; Apoplexy|Brain Ischemia|Stroke; body mass; cholesterol, HDL; insulin; folate; homocysteine; Adenocarcinoma|Stomach Neoplasms; cardiac defects; Coronary Disease|Coronary heart disease; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Chromosome Aberrations|DNA Damage; Coronary Artery Disease|Folic Acid Deficiency; Polycystic Ovary Syndrome; Retinal Neoplasms|Retinoblastoma; obesity; Brain Neoplasms|Glioma|Meningeal Neoplasms|Meningioma; homocysteine metabolism, cognition, and white matter lesions; multiple myeloma; Bipolar Disorder; Acute Coronary Syndrome|; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; homocysteine; Spinal Dysraphism; Venous Thrombosis; esophageal cancer; chromosomal damage; Folic Acid Deficiency; esophageal adenocarcinoma; Myocardial Infarction; Down Syndrome; arsenic metabolism; lung cancer ; Cleft Lip|Cleft Palate; Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Cardiovascular Diseases; breast cancer ; Echocardiography; Hyperhomocysteinemia|Hyperlipidemias; DNA Damage; Crohn Disease; atherosclerosis; Alzheimer's disease ; embryo selection; Lymphoma, Non-Hodgkin; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Parkinson's disease ; Central Nervous System Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Neutropenia; Coronary Stenosis|Hyperhomocysteinemia; depression; Azoospermia|Oligospermia; preterm delivery small-for-gestational age; stomach cancer; chronic obstructive pulmonary disease; Coronary Disease; Marijuana Abuse|Psychoses, Substance-Induced; Multiple Myeloma; Apoplexy|Stroke; breast cancer ovarian cancer; homocysteine rheumatoid arthritis rheumatoid nodulosis; thrombosis, deep vein; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Breast Neoplasms; neural tube defects ; lymphoma; lung cancer; drug hypersensitivity; cleft lip with cleft palate cleft lip without cleft palate; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Cervical Intraepithelial Neoplasia; hyperhomocystinemia; Chronic progressive chorea|Huntington Disease; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss|Vascular Diseases; Lymphoma; methotrexate toxicity; Adenoma|Colorectal Neoplasms; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; brain cancer; Parkinson's disease; breast cancer; myocardial infarction; folate; homocysteine; homocysteine; bladder cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Fetal anticonvulsant syndrome; lymphoma; multiple myeloma; hypertension; Colitis, Ulcerative; null; colorectal cancer; Choroidal Neovascularization|Macular Degeneration; renal graft survival ; neural tube defects; Heart Defects, Congenital|Spinal Dysraphism; Coronary Artery Disease|Lupus Erythematosus, Systemic; Down Syndrome|Micronuclei, Chromosome-Defective; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; atrial fibrillation homocysteine; Intracranial Aneurysm; migraine ; DNA damage associated with exposure to air pollution; lymphoma, malignant; Stroke; Arthritis, Rheumatoid; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Hyperhomocysteinemia; Congenital Heart Defects|Heart Defects, Congenital; colon cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Hypertension; Glomerulonephritis, IGA; Cell Transformation, Neoplastic|Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Colorectal Neoplasms; Birth Weight|Fetal Growth Retardation|Placental Insufficiency|Pre-Eclampsia; non-Hodgkin's lymphoma; Exfoliation Syndrome|Glaucoma; colorectal adenoma; breast cancer estrogen progesterone; heart anomalies, congenital; kidney aging; Adrenoleukodystrophy|Demyelinating Diseases|Metabolic Diseases; infertility, male; patent ductus arteriosus; Epilepsy; Brain Neoplasms|Meningioma; Hyperhomocysteinemia|Phenylketonurias|Vitamin B Deficiency; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; frequency of micronucleated lymphocytes; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Hyperhomocysteinemia|Pre-Eclampsia; Bone Neoplasms|Gastrointestinal Diseases|Hematologic Diseases|Kidney Diseases|Osteosarcoma; Alzheimer's Disease; rheumatoid arthritis; 1-carbon metabolism; cerebrovascular disease, ischemic; plasma homocysteine; Pancreatic Neoplasms Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. Defective MTR causes methylmalonic aciduria and homocystinuria type cblG GO:0000096;sulfur amino acid metabolic process;TAS|GO:0007399;nervous system development;TAS|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS|GO:0031103;axon regeneration;IEA|GO:0032259;methylation;TAS|GO:0042558;pteridine-containing compound metabolic process;IEA|GO:0044237;cellular metabolic process;IEA|GO:0048678;response to axon injury;IEA|GO:0071732;cellular response to nitric oxide;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008705;methionine synthase activity;IMP|GO:0008898;S-adenosylmethionine-homocysteine S-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031419;cobalamin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTR https://www.uniprot.org/uniprot/Q99707 https://hpo.jax.org/app/browse/search?q=MTR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=156570 http://www.informatics.jax.org/searchtool/Search.do?query=MTR&submit=Quick%0D%4819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTR rs4659737 0.641973 0 0 1 0 0 intronic intronic intronic MTR MTR ENSG00000116984 Na Na Na Na Na Na Het;G>A 158;8|6 Het;G>A 223;1|7 Hom;G>A 127;0|4 N N - 1 237754437 237754482 CCTCCTCCTCCCCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCCCTT C indel intronic RYR2 Ryr2 ENSG00000198626 ryanodine receptor 2 chr1:237205505-237997288 This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RYR2 https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180902 http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2 Na 0 0 0 1 0 0 intronic intronic intronic RYR2 RYR2 ENSG00000198626 Na Na Na Na Na Na Het;-CTCCTCCTCCCCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCCCTT 185;6|6 Het;-CTCCTCCTCCCCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCCCTT 383;2|12 Hom;-CTCCTCCTCCCCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCCCTT 413;0|10 N N - 1 237881 237881 G T snp ncRNA_exonic AP006222.1 rs6603779 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC729737(dist=97315),LOC100133331(dist=86011) LOC729737(dist=97315),DQ597235(dist=83203) ENSG00000228463 Na Na Na Na Na Na Het;G>T 2077;87|81 Ref Hom;G>T 2495;2|78 N N - 1 237955678 237955678 T C snp intronic RYR2 Ryr2 ENSG00000198626 ryanodine receptor 2 chr1:237205505-237997288 This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RYR2 https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180902 http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2 rs144369382 0.528155 0 0 1 0 0 intronic intronic intronic RYR2 RYR2 ENSG00000198626 Na Na Na Na Na Na Het;T>C 289;8|8 Het;T>C 168;6|6 Hom;T>C 1057;0|25 N N - 1 237955680 237955680 T C snp intronic RYR2 Ryr2 ENSG00000198626 ryanodine receptor 2 chr1:237205505-237997288 This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] Waist Circumference; Alzheimer Disease; Blood Pressure; Electrocardiography; Lipoproteins, HDL; Leukemia, Lymphoid; Acute lymphoblastic leukemia (childhood); exercise treadmill test traits; Arrhythmias, Cardiac|Death, Sudden, Cardiac|Heart Failure|Sudden Cardiac Death; Leukocyte Count; cardiomyopathy; Insulin Resistance; long QT syndrome; Death, Sudden, Cardiac|Long QT Syndrome|Syncope|Tachycardia, Ventricular; Kidney Diseases; Hyperparathyroidism, Secondary; Pulse; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; hypertension; Multiple Sclerosis; Body Height; Exercise Test; Rhabdomyolysis; Chronic renal failure|Kidney Failure, Chronic Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002027;regulation of heart rate;IMP|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003220;left ventricular cardiac muscle tissue morphogenesis;IEA|GO:0003300;cardiac muscle hypertrophy;IEA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007275;multicellular organism development;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IMP|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0014850;response to muscle activity;IMP|GO:0019722;calcium-mediated signaling;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031000;response to caffeine;IDA|GO:0034220;ion transmembrane transport;TAS|GO:0035584;calcium-mediated signaling using intracellular calcium source;IDA|GO:0035994;response to muscle stretch;IMP|GO:0051209;release of sequestered calcium ion into cytosol;IDA|GO:0051284;positive regulation of sequestering of calcium ion;IDA|GO:0051480;regulation of cytosolic calcium ion concentration;ISS|GO:0051775;response to redox state;IDA|GO:0055085;transmembrane transport;IEA|GO:0055117;regulation of cardiac muscle contraction;IMP|GO:0060048;cardiac muscle contraction;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060401;cytosolic calcium ion transport;IEA|GO:0060402;calcium ion transport into cytosol;IDA|GO:0070296;sarcoplasmic reticulum calcium ion transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071313;cellular response to caffeine;IDA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0072599;establishment of protein localization to endoplasmic reticulum;IDA|GO:0086005;ventricular cardiac muscle cell action potential;IEA|GO:0086029;Purkinje myocyte to ventricular cardiac muscle cell signaling;IEA|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;IC|GO:0097050;type B pancreatic cell apoptotic process;IMP|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:0098904;regulation of AV node cell action potential;IMP|GO:0098907;regulation of SA node cell action potential;IMP|GO:0098910;regulation of atrial cardiac muscle cell action potential;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP|GO:1901896;positive regulation of calcium-transporting ATPase activity;IDA|GO:1903779;regulation of cardiac conduction;TAS GO:0005623;cell;IEA|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IBA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0034704;calcium channel complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005216;ion channel activity;IEA|GO:0005219;ryanodine-sensitive calcium-release channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0015278;calcium-release channel activity;IDA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0034236;protein kinase A catalytic subunit binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0043924;suramin binding;IMP|GO:0044325;ion channel binding;ISS|GO:0048763;calcium-induced calcium release activity;IDA|GO:0097159;organic cyclic compound binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RYR2 https://hpo.jax.org/app/browse/search?q=RYR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180902 http://www.informatics.jax.org/searchtool/Search.do?query=RYR2&submit=Quick%0D%16945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RYR2 rs146659498 0.528155 0 0 1 0 0 intronic intronic intronic RYR2 RYR2 ENSG00000198626 Na Na Na Na Na Na Het;T>C 288;8|8 Het;T>C 168;6|6 Hom;T>C 1056;0|23 N N - 1 242079498 242079498 A G snp ncRNA_exonic RPL23AP20 rs7555402 0.544928 0 0 1 0 0 intergenic intergenic ncRNA_exonic EXO1(dist=26257),BECN2(dist=41571) EXO1(dist=26257),MAP1LC3C(dist=79294) ENSG00000235990 Na Na Na Na Na Na Het;A>G 320;1|12 Ref Hom;A>G 62;0|3 N N - 1 242219688 242219688 G A snp upstream TUBB8P6 rs6702034 0.363618 0 0 1 0 0 intergenic intergenic upstream MAP1LC3C(dist=57303),PLD5(dist=32001) MAP1LC3C(dist=57303),PLD5(dist=32001) ENSG00000224625 Na Na Na Na Na Na Het;G>A 219;10|11 Het;G>A 176;14|10 Hom;G>A 194;0|8 N N - 1 242223171 242223171 G A snp ncRNA_exonic TUBB8P6 rs908969 0.229633 0 0 1 0 0 intergenic intergenic ncRNA_exonic MAP1LC3C(dist=60786),PLD5(dist=28518) MAP1LC3C(dist=60786),PLD5(dist=28518) ENSG00000224625 Na Na Na Na Na Na Het;G>A 137;10|7 Het;G>A 142;8|8 Hom;G>A 594;0|23 N N - 1 242687390 242687390 G A snp synonymous SNV C189T H63H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) PLD5 Pld5 ENSG00000180287 phospholipase D family member 5 chr1:242246288-242687998 autism; Socioeconomic Factors; Multiple Sclerosis; Urinalysis; Tobacco Use Disorder No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLD5 http://www.informatics.jax.org/searchtool/Search.do?query=PLD5&submit=Quick%0D%14457ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLD5 rs2810008 0.289337 0 0.2875 1 0 0 exonic exonic exonic PLD5 PLD5 ENSG00000180287 synonymous SNV synonymous SNV unknown PLD5:NM_152666:exon2:c.C189T:p.H63H, PLD5:uc001hzn.2:exon2:c.C189T:p.H63H, UNKNOWN Het;G>A 878;32|42 Het;G>A 707;33|34 Hom;G>A 2025;0|75 N N - 1 243362331 243362331 C T snp intronic CEP170 Cep170 ENSG00000276725 centrosomal protein 170 chr1:243287730-243418650 The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Tobacco Use Disorder GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0031965;nuclear membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP170 https://www.uniprot.org/uniprot/Q5SW79 https://www.ncbi.nlm.nih.gov/omim/?term=613023 http://www.informatics.jax.org/searchtool/Search.do?query=CEP170&submit=Quick%0D%21669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP170 rs2789172 0.881989 0 0.7834 1 0 0 intronic intronic intronic CEP170 CEP170 ENSG00000143702 Na Na Na Na Na Na Het;C>T 529;23|21 Het;C>T 444;31|20 Hom;C>T 1563;0|53 N N - 1 243449881 243449881 G A snp intronic SDCCAG8 Sdccag8 ENSG00000276111 serologically defined colon cancer antigen 8 chr1:243419320-243663394 This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010] Multiple Sclerosis; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; HIV; Schizophrenia; Body Composition; obesity Homozygotes for a null allele show postnatal lethality, cleft palate, polydactyly, enlarged lateral ventricles and impaired neuronal migration. Homozygotes for a gene trap allele show late-onset nephronophthisis associated with renal cysts and fibrosis, and retinal degeneration leading to blindness. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030010;establishment of cell polarity;ISS|GO:0035148;tube formation;ISS|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0030054;cell junction;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SDCCAG8 https://www.uniprot.org/uniprot/Q86SQ7 https://hpo.jax.org/app/browse/search?q=SDCCAG8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613524 http://www.informatics.jax.org/searchtool/Search.do?query=SDCCAG8&submit=Quick%0D%21527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDCCAG8 rs3818802 0.425919 0 0 1 0 0 intronic intronic intronic SDCCAG8 SDCCAG8 ENSG00000054282 Na Na Na Na Na Na Het;G>A 75;5|4 Het;G>A 133;5|5 Hom;G>A 166;0|5 N N - 1 244268781 244268781 T C snp intergenic ZBTB18 Zbtb18 ENSG00000179456 zinc finger and BTB domain containing 18 chr1:244214585-244220778 This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Cholesterol, LDL; Cholesterol; Iron Mice homozygous for a knock-out allele exhibit neonatal lethality, cortical and hippocampal hypoplasia and laminar disorganization, and abnormal neuron apoptosis and cell cycling. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007519;skeletal muscle tissue development;ISS|GO:0045892;negative regulation of transcription, DNA-templated;ISS GO:0000228;nuclear chromosome;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0045171;intercellular bridge;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZBTB18 https://hpo.jax.org/app/browse/search?q=ZBTB18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608433 http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB18&submit=Quick%0D%14344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB18 rs67041905 0.162939 0 0 1 0 0 intergenic intergenic intergenic ZBTB18(dist=48001),C1orf100(dist=247156) ZBTB18(dist=48001),C1orf100(dist=247156) ENSG00000244066(dist=1271),ENSG00000237759(dist=1886) Na Na Na Na Na Na Het;T>C 788;10|33 Het;T>C 351;13|16 Hom;T>C 1044;0|41 N N - 1 245129972 245129972 A AT indel ncRNA_exonic LOC101928068 rs34304194 0.572684 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928068 HNRNPU(dist=102145),EFCAB2(dist=3199) ENSG00000252073(dist=11707),ENSG00000272195(dist=2680) Na Na Na Na Na Na Het;+T 1149;27|34 Het;+T 615;21|20 Hom;+T 923;0|24 N N - 1 245130641 245130641 T G snp ncRNA_exonic LOC101928068 rs6700087 0.49381 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928068 HNRNPU(dist=102814),EFCAB2(dist=2530) ENSG00000252073(dist=12376),ENSG00000272195(dist=2011) Na Na Na Na Na Na Het;T>G 3232;119|130 Het;T>G 2763;100|116 Hom;T>G 5209;2|178 N N - 1 245131447 245131447 A T snp ncRNA_exonic LOC101928068 rs10927360 0.488618 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101928068 HNRNPU(dist=103620),EFCAB2(dist=1724) ENSG00000252073(dist=13182),ENSG00000272195(dist=1205) Na Na Na Na Na Na Het;A>T 1703;81|70 Het;A>T 751;65|36 Hom;A>T 3674;0|127 N N - 1 245131915 245131915 G A snp ncRNA_exonic LOC101928068 rs56335655 0.495008 0 0 1 0 0 ncRNA_exonic intergenic downstream LOC101928068 HNRNPU(dist=104088),EFCAB2(dist=1256) ENSG00000272195 Na Na Na Na Na Na Het;G>A 254;4|7 Het;G>A 179;1|5 Hom;G>A 459;0|11 N N - 1 245131916 245131916 A T snp ncRNA_exonic LOC101928068 rs55761375 0.495008 0 0 1 0 0 ncRNA_exonic intergenic downstream LOC101928068 HNRNPU(dist=104089),EFCAB2(dist=1255) ENSG00000272195 Na Na Na Na Na Na Het;A>T 254;4|7 Het;A>T 179;1|5 Hom;A>T 459;0|11 N N - 1 245133489 245133489 T G snp nonsynonymous SNV T65G V22G aliphatic,hydrophobic,neutral aliphatic,neutral EFCAB2 Efcab2 ENSG00000203666 EF-hand calcium binding domain 2 chr1:245133007-245290466 The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77) GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2 rs7545078 0.48762 0 0.6193 0.18 2 11 ncRNA_intronic exonic exonic LOC101928068 EFCAB2 ENSG00000203666,ENSG00000272195 Na nonsynonymous SNV unknown Na EFCAB2:uc001ibd.2:exon1:c.T65G:p.V22G, UNKNOWN Het;T>G 66;7|3 Ref Hom;T>G 114;0|4 N N - 1 245133549 245133551 GGC G indel frameshift substitution 125_127G EFCAB2 Efcab2 ENSG00000203666 EF-hand calcium binding domain 2 chr1:245133007-245290466 The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77) GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2 rs10536649 0.482029 0 0.6006 1 0 0 ncRNA_intronic exonic exonic LOC101928068 EFCAB2 ENSG00000203666,ENSG00000272195 Na frameshift substitution unknown Na EFCAB2:uc001ibd.2:exon1:c.125_127G, UNKNOWN Het;-GC 95;8|4 Het;-GC 62;6|3 Hom;-GC 278;0|7 N N - 1 245133623 245133623 T TCCTCC indel frameshift substitution 199_199delinsTCCTCC EFCAB2 Efcab2 ENSG00000203666 EF-hand calcium binding domain 2 chr1:245133007-245290466 The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77) GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2 rs145835471 0.497204 0 0.6146 1 0 0 ncRNA_intronic exonic exonic LOC101928068 EFCAB2 ENSG00000203666,ENSG00000272195 Na frameshift substitution unknown Na EFCAB2:uc001ibd.2:exon1:c.199_199delinsTCCTCC, UNKNOWN Het;+CCTCC 1150;34|30 Het;+CCTCC 908;31|25 Hom;+CCTCC 2106;0|46 N N - 1 245133662 245133662 G C snp nonsynonymous SNV G238C G80R aliphatic,neutral polar,hydrophilic,charged(+) EFCAB2 Efcab2 ENSG00000203666 EF-hand calcium binding domain 2 chr1:245133007-245290466 The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] Tobacco Use Disorder; monocyte chemoattractant protein 1 (66-77) GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB2 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB2&submit=Quick%0D%17116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB2 rs61844237 0.371206 0 0.5119 0.27 3 11 ncRNA_intronic exonic exonic LOC101928068 EFCAB2 ENSG00000203666,ENSG00000272195 Na nonsynonymous SNV unknown Na EFCAB2:uc001ibd.2:exon1:c.G238C:p.G80R, UNKNOWN Het;G>C 943;62|45 Het;G>C 692;39|32 Hom;G>C 2044;0|77 N N - 1 245133940 245133968 TCCGCCCCGCCCCGCCCCGCCTCTCTCCC T indel unknown AL356512.1 rs755215419 0 0 0 1 0 0 ncRNA_intronic intronic exonic LOC101928068 EFCAB2 ENSG00000272195 Na Na unknown Na Na UNKNOWN Het;-CCGCCCCGCCCCGCCCCGCCTCTCTCCC 264;2|8 Het;-CCGCCCCGCCCCGCCCCGCCTCTCTCCC 125;2|4 Hom;-CCGCCCCGCCCCGCCCCGCCTCTCTCCC 171;0|4 N N - 1 245133992 245133992 C G snp unknown AL356512.1 rs113845109 0.500599 0 0.9091 1 0 0 ncRNA_intronic intronic exonic LOC101928068 EFCAB2 ENSG00000272195 Na Na unknown Na Na UNKNOWN Het;C>G 357;3|11 Het;C>G 138;1|4 Hom;C>G 388;0|11 N N - 1 245470154 245470154 C T snp intronic KIF26B Kif26b ENSG00000281216 kinesin family member 26B chr1:245318287-245872733 Echocardiography; Stroke; Body Height; Tobacco Use Disorder; Cholesterol, HDL; Insulin; Coronary Disease Mice homozygous for a knock-out allele exhibit neonatal lethality with impaired kidney development due to loss of cortical nephrogenic zone mesenchyme and failure of ureteric buds to invade and branch into the mesenchyme. GO:0007018;microtubule-based movement;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIF26B https://www.ncbi.nlm.nih.gov/omim/?term=614026 http://www.informatics.jax.org/searchtool/Search.do?query=KIF26B&submit=Quick%0D%22282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF26B rs10802209 0.366214 0 0 1 0 0 intronic intronic intronic KIF26B KIF26B ENSG00000162849 Na Na Na Na Na Na Het;C>T 76;4|4 Ref Hom;C>T 71;0|4 N N - 1 246568004 246568004 A C snp intronic SMYD3 Smyd3 ENSG00000185420 SET and MYND domain containing 3 chr1:245912642-246670614 This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] liver cancer; Diabetic Nephropathies; breast cancer; colorectal cancer; liver cancer; Body Height; Heart Failure; Tobacco Use Disorder; Waist Circumference; Prostatic Neoplasms; Bipolar Disorder; Carcinoma, Squamous Cell|Esophageal Neoplasms; Creatinine No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. PKMTs methylate histone lysines GO:0006334;nucleosome assembly;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0014904;myotube cell development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0006334;nucleosome assembly;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0014904;myotube cell development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000993;RNA polymerase II core binding;IEA|GO:0001162;RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMYD3 https://www.uniprot.org/uniprot/Q9H7B4 https://www.ncbi.nlm.nih.gov/omim/?term=608783 http://www.informatics.jax.org/searchtool/Search.do?query=SMYD3&submit=Quick%0D%236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMYD3 rs78072264 0.0569089 0 0 1 0 0 intronic intronic intronic SMYD3 SMYD3 ENSG00000185420 Na Na Na Na Na Na Het;A>C 57;2|2 Ref Hom;A>C 107;0|3 N N - 1 246568012 246568012 C T snp intronic SMYD3 Smyd3 ENSG00000185420 SET and MYND domain containing 3 chr1:245912642-246670614 This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] liver cancer; Diabetic Nephropathies; breast cancer; colorectal cancer; liver cancer; Body Height; Heart Failure; Tobacco Use Disorder; Waist Circumference; Prostatic Neoplasms; Bipolar Disorder; Carcinoma, Squamous Cell|Esophageal Neoplasms; Creatinine No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. PKMTs methylate histone lysines GO:0006334;nucleosome assembly;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0014904;myotube cell development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0006334;nucleosome assembly;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0014904;myotube cell development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000993;RNA polymerase II core binding;IEA|GO:0001162;RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMYD3 https://www.uniprot.org/uniprot/Q9H7B4 https://www.ncbi.nlm.nih.gov/omim/?term=608783 http://www.informatics.jax.org/searchtool/Search.do?query=SMYD3&submit=Quick%0D%236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMYD3 rs114263146 0.0427316 0 0 1 0 0 intronic intronic intronic SMYD3 SMYD3 ENSG00000185420 Na Na Na Na Na Na Het;C>T 57;2|3 Ref Hom;C>T 107;0|3 N N - 1 246687432 246687432 A G snp ncRNA_intronic LOC255654 rs12403598 0.28095 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC255654 LOC255654 ENSG00000242042 Na Na Na Na Na Na Het;A>G 461;12|19 Het;A>G 142;7|7 Hom;A>G 323;0|11 N N - 1 246692032 246692032 T C snp ncRNA_exonic AL356583.2 rs10754522 0.726238 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC255654(dist=4443),TFB2M(dist=11831) LOC255654(dist=4443),TFB2M(dist=11831) ENSG00000229112 Na Na Na Na Na Na Het;T>C 214;1|6 Het;T>C 74;8|3 Hom;T>C 390;0|12 N N - 1 246707709 246707709 G C snp intronic TFB2M Tfb2m ENSG00000162851 transcription factor B2, mitochondrial chr1:246703862-246729626 Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease ; Cardiomegaly; Parkinson's disease Transcriptional activation of mitochondrial biogenesis GO:0000154;rRNA modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IEA|GO:0006390;transcription from mitochondrial promoter;IDA|GO:0006391;transcription initiation from mitochondrial promoter;TAS|GO:0007005;mitochondrion organization;TAS|GO:0031167;rRNA methylation;IEA|GO:0032259;methylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030054;cell junction;IDA|GO:0042645;mitochondrial nucleoid;IDA GO:0000179;rRNA (adenine-N6,N6-)-dimethyltransferase activity;IBA|GO:0003712;transcription cofactor activity;IDA|GO:0003723;RNA binding;IDA|GO:0008168;methyltransferase activity;IEA|GO:0008649;rRNA methyltransferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TFB2M https://www.ncbi.nlm.nih.gov/omim/?term=607055 http://www.informatics.jax.org/searchtool/Search.do?query=TFB2M&submit=Quick%0D%10814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFB2M rs2275266 0.250599 0 0 1 0 0 intronic intronic intronic TFB2M TFB2M ENSG00000162851 Na Na Na Na Na Na Het;G>C 152;4|5 Ref Hom;G>C 210;0|6 N N - 1 248129240 248129240 G A snp nonsynonymous SNV G607A V203M aliphatic,hydrophobic,neutral hydrophobic,neutral OR2AK2 Olfr320 ENSG00000187080 chr1:248128535-248129641 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2AK2 http://www.informatics.jax.org/searchtool/Search.do?query=OR2AK2&submit=Quick%0D%15773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2AK2 rs4478844 0.43131 0.4895 0.5658 0.42 5 12 exonic exonic exonic OR2AK2 OR2AK2 ENSG00000187080 nonsynonymous SNV nonsynonymous SNV unknown OR2AK2:NM_001004491:exon1:c.G607A:p.V203M, OR2AK2:uc010pzd.2:exon1:c.G607A:p.V203M, UNKNOWN Het;G>A 1484;59|67 Het;G>A 1635;78|73 Hom;G>A 4413;0|159 N N - 1 2496649 2496649 C G snp UTR3 *2091C>G TNFRSF14 Tnfrsf14 ENSG00000273936 TNF receptor superfamily member 14 chr1:2487078-2496821 This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid| Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival. TNFs bind their physiological receptors GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14 https://www.ncbi.nlm.nih.gov/omim/?term=602746 http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14 rs7544646 0.596845 0 0 1 0 0 UTR3 intergenic intergenic TNFRSF14(NM_001297605:c.*2091C>G,NM_003820:c.*1937C>G) TNFRSF14(dist=1382),FAM213B(dist=21250) ENSG00000157873(dist=1381),ENSG00000225931(dist=1200) Na Na Na Na Na Na Het;C>G 156;3|7 Ref Hom;C>G 197;0|5 N N - 1 2535895 2535895 C T snp intronic MMEL1 Mmel1 ENSG00000277131 membrane metalloendopeptidase like 1 chr1:2522078-2564481 The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Celiac disease; Celiac Disease; Arthritis, Rheumatoid|; Wegener's granulomatosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Arthritis, Rheumatoid Homozygous null mice display impaired male fertility. Female fertility is not affected. GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMEL1 https://www.uniprot.org/uniprot/Q495T6 https://hpo.jax.org/app/browse/search?q=MMEL1&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=MMEL1&submit=Quick%0D%21764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMEL1 rs4648653 0.494609 0 0 1 0 0 intronic intronic intronic MMEL1 MMEL1 ENSG00000142606 Na Na Na Na Na Na Het;C>T 165;9|6 Ref Hom;C>T 90;0|4 N N - 1 26608649 26608649 G A snp UTR3 *141C>T UBXN11 Ubxn11 ENSG00000158062 UBX domain protein 11 chr1:26607819-26644854 This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/UBXN11 https://www.ncbi.nlm.nih.gov/omim/?term=609151 http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11 rs12750420 0.187101 0 0 1 0 0 downstream downstream UTR3 SH3BGRL3,UBXN11 SH3BGRL3,UBXN11 ENSG00000158062(ENST00000314675:c.*141C>T) Na Na Na Na Na Na Het;G>A 191;3|8 Ref Hom;G>A 205;0|6 N N - 1 28285501 28285501 A G snp UTR3 *152A>G SMPDL3B Smpdl3b ENSG00000130768 sphingomyelin phosphodiesterase acid like 3B chr1:28261504-28285668 Mice homozygous for a knock-out allele are viable and overtly normal but exhibit an enhanced inflammatory response in models of Toll-like receptor (TLR)-dependent peritonitis. GO:0002376;immune system process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006685;sphingomyelin catabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0008150;biological_process;ND|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0034122;negative regulation of toll-like receptor signaling pathway;IEA|GO:0045087;innate immune response;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0004767;sphingomyelin phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMPDL3B https://www.uniprot.org/uniprot/Q92485 http://www.informatics.jax.org/searchtool/Search.do?query=SMPDL3B&submit=Quick%0D%6440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMPDL3B rs41284296 0.00858626 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic SMPDL3B(NM_001304579:c.*152A>G,NM_014474:c.*152A>G) SMPDL3B(uc001bpg.3:c.*152A>G,uc010ofq.2:c.*152A>G,uc010ofr.2:c.*152A>G) ENSG00000227050 Na Na Na Na Na Na Het;A>G 79;2|3 Ref Hom;A>G 224;0|7 N N - 1 29018316 29018316 T TTTTA indel intronic GMEB1 Gmeb1 ENSG00000162419 glucocorticoid modulatory element binding protein 1 chr1:28995244-29045865 This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GMEB1 https://www.ncbi.nlm.nih.gov/omim/?term=604409 http://www.informatics.jax.org/searchtool/Search.do?query=GMEB1&submit=Quick%0D%10700ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GMEB1 rs374526303 0.104433 0 0 1 0 0 intronic intronic intronic GMEB1 GMEB1 ENSG00000162419 Na Na Na Na Na Na Het;+TTTA 124;2|4 Het;+TTTA 43;1|2 Hom;+TTTA 136;0|4 N N - 1 29633491 29633491 T TCAGCC indel intronic PTPRU Ptpru ENSG00000060656 protein tyrosine phosphatase, receptor type U chr1:29563028-29653325 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010] Heart Rate; Body Weight; Schizophrenia; Blood Pressure; Triglycerides; Bipolar Disorder; Body Mass Index; Heart Failure; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Cholesterol, LDL; Diabetes Mellitus, Type 2; Cholesterol, HDL; Tobacco Use Disorder; Smoking; Chronic renal failure|Kidney Failure, Chronic; Body Height; Dehydroepiandrosterone; Prostatic Neoplasms Signaling by SCF-KIT GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;NAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016311;dephosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IDA|GO:0031100;animal organ regeneration;IEA|GO:0034109;homotypic cell-cell adhesion;IEA|GO:0034394;protein localization to cell surface;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRU https://www.uniprot.org/uniprot/Q92729 https://www.ncbi.nlm.nih.gov/omim/?term=602454 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRU&submit=Quick%0D%1064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRU rs3835409 0.409545 0 0 1 0 0 intronic intronic intronic PTPRU PTPRU ENSG00000060656 Na Na Na Na Na Na Het;+CAGCC 491;6|13 Het;+CAGCC 74;5|3 Hom;+CAGCC 192;0|4 N N - 1 30143294 30143294 G T snp intergenic LOC101928460 rs10915111 0.248003 0 0 1 0 0 intergenic intergenic intergenic LOC101928460(dist=466668),LOC101929406(dist=343505) PTPRU(dist=489969),BC042538(dist=343505) ENSG00000221126(dist=25769),ENSG00000228176(dist=38404) Na Na Na Na Na Na Het;G>T 114;1|5 Ref Hom;G>T 80;0|5 N N - 1 31060334 31060334 A G snp intergenic LOC101929406 rs580753 0.285543 0 0 1 0 0 intergenic intergenic intergenic LOC101929406(dist=549875),MATN1(dist=123790) BC042538(dist=549878),MATN1(dist=123790) ENSG00000231949(dist=166379),ENSG00000162510(dist=123790) Na Na Na Na Na Na Het;A>G 132;3|5 Ref Hom;A>G 119;0|4 N N - 1 31188089 31188089 C T snp synonymous SNV G1275A E425E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MATN1 Matn1 ENSG00000162510 matrilin 1, cartilage matrix protein chr1:31184124-31196434 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008] kidney aging; radiographically evident osteoarthritis; Prognathism; scoliosis; Scoliosis; osteoarthritis Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. ECM proteoglycans GO:0002062;chondrocyte differentiation;IEA|GO:0003429;growth plate cartilage chondrocyte morphogenesis;IEA|GO:0006461;protein complex assembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030500;regulation of bone mineralization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN1 https://www.ncbi.nlm.nih.gov/omim/?term=115437 http://www.informatics.jax.org/searchtool/Search.do?query=MATN1&submit=Quick%0D%10718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN1 rs1065755 0.28754 0.3232 0.3253 1 0 0 exonic exonic exonic MATN1 MATN1 ENSG00000162510 synonymous SNV synonymous SNV synonymous SNV MATN1:NM_002379:exon6:c.G1275A:p.E425E, MATN1:uc001brz.3:exon6:c.G1275A:p.E425E, ENSG00000162510:ENST00000373765:exon6:c.G1275A:p.E425E, Het;C>T 1081;43|52 Het;C>T 797;37|36 Hom;C>T 1773;0|68 N N - 1 31188901 31188901 A G snp synonymous SNV T1062C T354T polar,hydrophilic,neutral polar,hydrophilic,neutral MATN1 Matn1 ENSG00000162510 matrilin 1, cartilage matrix protein chr1:31184124-31196434 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008] kidney aging; radiographically evident osteoarthritis; Prognathism; scoliosis; Scoliosis; osteoarthritis Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. ECM proteoglycans GO:0002062;chondrocyte differentiation;IEA|GO:0003429;growth plate cartilage chondrocyte morphogenesis;IEA|GO:0006461;protein complex assembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030500;regulation of bone mineralization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN1 https://www.ncbi.nlm.nih.gov/omim/?term=115437 http://www.informatics.jax.org/searchtool/Search.do?query=MATN1&submit=Quick%0D%10718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN1 rs20566 0.604233 0.5615 0.5111 1 0 0 exonic exonic exonic MATN1 MATN1 ENSG00000162510 synonymous SNV synonymous SNV synonymous SNV MATN1:NM_002379:exon5:c.T1062C:p.T354T, MATN1:uc001brz.3:exon5:c.T1062C:p.T354T, ENSG00000162510:ENST00000373765:exon5:c.T1062C:p.T354T, Het;A>G 1562;79|68 Het;A>G 1484;70|67 Hom;A>G 3979;2|148 N N - 1 31191093 31191093 G C snp intronic MATN1 Matn1 ENSG00000162510 matrilin 1, cartilage matrix protein chr1:31184124-31196434 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008] kidney aging; radiographically evident osteoarthritis; Prognathism; scoliosis; Scoliosis; osteoarthritis Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. ECM proteoglycans GO:0002062;chondrocyte differentiation;IEA|GO:0003429;growth plate cartilage chondrocyte morphogenesis;IEA|GO:0006461;protein complex assembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030500;regulation of bone mineralization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN1 https://www.ncbi.nlm.nih.gov/omim/?term=115437 http://www.informatics.jax.org/searchtool/Search.do?query=MATN1&submit=Quick%0D%10718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN1 rs1188408 0.576278 0 0 1 0 0 intronic intronic intronic MATN1 MATN1 ENSG00000162510 Na Na Na Na Na Na Het;G>C 177;5|8 Het;G>C 100;10|5 Hom;G>C 414;0|14 N N - 1 31191438 31191438 C A snp ncRNA_exonic MATN1-AS1 rs6663914 0.18111 0 0 1 0 0 intronic intronic ncRNA_exonic MATN1 MATN1 ENSG00000186056 Na Na Na Na Na Na Het;C>A 61;3|3 Ref Hom;C>A 118;0|5 N N - 1 31191516 31191516 G C snp ncRNA_exonic MATN1-AS1 rs10914186 0.289537 0 0 1 0 0 intronic intronic ncRNA_exonic MATN1 MATN1 ENSG00000186056 Na Na Na Na Na Na Het;G>C 378;13|14 Het;G>C 383;8|16 Hom;G>C 490;0|14 N N - 1 31192304 31192304 G T snp ncRNA_exonic MATN1-AS1 rs1149040 0.576877 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MATN1-AS1 MATN1-AS1 ENSG00000186056 Na Na Na Na Na Na Het;G>T 2276;141|102 Het;G>T 2360;135|108 Hom;G>T 7340;0|270 N N - 1 31198733 31198733 A G snp ncRNA_exonic MATN1-AS1 rs1149048 0.616813 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MATN1-AS1 MATN1-AS1 ENSG00000186056 Na Na Na Na Na Na Het;A>G 1891;68|83 Het;A>G 1397;67|64 Hom;A>G 3849;0|141 N N - 1 31206637 31206637 C T snp UTR3 *38G>A LAPTM5 Laptm5 ENSG00000162511 lysosomal protein transmembrane 5 chr1:31205316-31230667 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response. GO:0006810;transport;IEA GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5 https://www.ncbi.nlm.nih.gov/omim/?term=601476 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5 rs3795438 0.106629 0.1811 0.2220 1 0 0 UTR3 UTR3 UTR3 LAPTM5(NM_006762:c.*38G>A) LAPTM5(uc001bsc.2:c.*38G>A) ENSG00000162511(ENST00000294507:c.*38G>A) Na Na Na Na Na Na Het;C>T 971;58|42 Het;C>T 1075;43|46 Hom;C>T 2299;4|88 N N - 1 31206806 31206806 T C snp intronic LAPTM5 Laptm5 ENSG00000162511 lysosomal protein transmembrane 5 chr1:31205316-31230667 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response. GO:0006810;transport;IEA GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5 https://www.ncbi.nlm.nih.gov/omim/?term=601476 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5 rs3795437 0.358027 0.3247 0.3179 1 0 0 intronic intronic intronic LAPTM5 LAPTM5 ENSG00000162511 Na Na Na Na Na Na Het;T>C 1557;44|68 Het;T>C 1116;67|55 Hom;T>C 2642;0|97 N N - 1 31206957 31206957 T C snp intronic LAPTM5 Laptm5 ENSG00000162511 lysosomal protein transmembrane 5 chr1:31205316-31230667 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response. GO:0006810;transport;IEA GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5 https://www.ncbi.nlm.nih.gov/omim/?term=601476 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5 rs12404920 0.357827 0 0 1 0 0 intronic intronic intronic LAPTM5 LAPTM5 ENSG00000162511 Na Na Na Na Na Na Het;T>C 155;3|5 Ref Hom;T>C 223;0|6 N N - 1 31208042 31208042 C T snp nonsynonymous SNV G677A R226K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LAPTM5 Laptm5 ENSG00000162511 lysosomal protein transmembrane 5 chr1:31205316-31230667 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response. GO:0006810;transport;IEA GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5 https://www.ncbi.nlm.nih.gov/omim/?term=601476 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5 rs35351292 0.115415 0.1954 0.1979 0.08 1 13 exonic exonic exonic LAPTM5 LAPTM5 ENSG00000162511 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV LAPTM5:NM_006762:exon7:c.G677A:p.R226K, LAPTM5:uc001bsc.2:exon7:c.G677A:p.R226K, ENSG00000162511:ENST00000294507:exon7:c.G677A:p.R226K, Het;C>T 844;38|38 Het;C>T 687;38|34 Hom;C>T 1948;0|75 N N - 1 31215364 31215364 T C snp synonymous SNV A120G S40S polar,hydrophilic,neutral polar,hydrophilic,neutral LAPTM5 Laptm5 ENSG00000162511 lysosomal protein transmembrane 5 chr1:31205316-31230667 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response. GO:0006810;transport;IEA GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5 https://www.ncbi.nlm.nih.gov/omim/?term=601476 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5 rs1050663 0.604633 0.5231 0.5520 1 0 0 exonic exonic exonic LAPTM5 LAPTM5 ENSG00000162511 synonymous SNV synonymous SNV synonymous SNV LAPTM5:NM_006762:exon2:c.A120G:p.S40S, LAPTM5:uc001bsc.2:exon2:c.A120G:p.S40S, ENSG00000162511:ENST00000294507:exon2:c.A120G:p.S40S, Het;T>C 930;34|41 Het;T>C 1023;26|47 Hom;T>C 1585;4|66 N N - 1 31230668 31230668 C T snp UTR5 -76G>A LAPTM5 Laptm5 ENSG00000162511 lysosomal protein transmembrane 5 chr1:31205316-31230667 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a null allele exhibit increased T cell proliferation, increased IL-2 production and a prolognged type IV hypersensitivity response. GO:0006810;transport;IEA GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM5 https://www.ncbi.nlm.nih.gov/omim/?term=601476 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM5&submit=Quick%0D%10719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM5 rs2273979 0.259185 0 0 1 0 0 UTR5 UTR5 upstream LAPTM5(NM_006762:c.-76G>A) LAPTM5(uc001bsc.2:c.-76G>A) ENSG00000162511 Na Na Na Na Na Na Het;C>T 743;30|33 Het;C>T 194;24|8 Hom;C>T 1403;0|47 N N - 1 31440921 31440921 G A snp intronic PUM1 Pum1 ENSG00000134644 pumilio RNA binding family member 1 chr1:31404353-31538838 This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Lupus Erythematosus, Systemic; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit decreased testes weight and size, decreased body weight, oligozoospermia, reduced male fertility, increased male germ cell apoptosis and small seminiferous tubules. Golgi Associated Vesicle Biogenesis GO:0006417;regulation of translation;IEA|GO:0007283;spermatogenesis;IEA|GO:0008344;adult locomotory behavior;ISS|GO:0010608;posttranscriptional regulation of gene expression;IDA|GO:0016441;posttranscriptional gene silencing;ISS|GO:0030154;cell differentiation;IEA|GO:0043488;regulation of mRNA stability;IDA|GO:0048863;stem cell differentiation;ISS|GO:0051726;regulation of cell cycle;IDA|GO:0051983;regulation of chromosome segregation;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0061157;mRNA destabilization;ISS|GO:1900246;positive regulation of RIG-I signaling pathway;IDA|GO:2000637;positive regulation of gene silencing by miRNA;IDA GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PUM1 https://www.uniprot.org/uniprot/Q14671 https://hpo.jax.org/app/browse/search?q=PUM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607204 http://www.informatics.jax.org/searchtool/Search.do?query=PUM1&submit=Quick%0D%7011ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUM1 rs4317854 0.83127 0 0 1 0 0 intronic intronic intronic PUM1 PUM1 ENSG00000134644 Na Na Na Na Na Na Het;G>A 66;4|3 Ref Hom;G>A 59;0|3 N N - 1 31478638 31478648 AAGAGAGAGAG A indel intronic PUM1 Pum1 ENSG00000134644 pumilio RNA binding family member 1 chr1:31404353-31538838 This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Lupus Erythematosus, Systemic; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit decreased testes weight and size, decreased body weight, oligozoospermia, reduced male fertility, increased male germ cell apoptosis and small seminiferous tubules. Golgi Associated Vesicle Biogenesis GO:0006417;regulation of translation;IEA|GO:0007283;spermatogenesis;IEA|GO:0008344;adult locomotory behavior;ISS|GO:0010608;posttranscriptional regulation of gene expression;IDA|GO:0016441;posttranscriptional gene silencing;ISS|GO:0030154;cell differentiation;IEA|GO:0043488;regulation of mRNA stability;IDA|GO:0048863;stem cell differentiation;ISS|GO:0051726;regulation of cell cycle;IDA|GO:0051983;regulation of chromosome segregation;IDA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0061157;mRNA destabilization;ISS|GO:1900246;positive regulation of RIG-I signaling pathway;IDA|GO:2000637;positive regulation of gene silencing by miRNA;IDA GO:0000932;P-body;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PUM1 https://www.uniprot.org/uniprot/Q14671 https://hpo.jax.org/app/browse/search?q=PUM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607204 http://www.informatics.jax.org/searchtool/Search.do?query=PUM1&submit=Quick%0D%7011ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUM1 rs66522510 0 0 0 1 0 0 intronic intronic intronic PUM1 PUM1 ENSG00000134644 Na Na Na Na Na Na Het;-AGAGAGAGAG 377;7|12 Het;-AGAGAGAGAG 383;16|12 Hom;-AGAGAGAGAG 757;0|18 N N - 1 31905889 31905889 A ACAG indel nonframeshift substitution 1116_1116delinsACAG SERINC2 Serinc2 ENSG00000168528 serine incorporator 2 chr1:31882412-31907525 Serine biosynthesis GO:0006658;phosphatidylserine metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0015825;L-serine transport;IEA|GO:1904219;positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity;IEA|GO:1904222;positive regulation of serine C-palmitoyltransferase activity;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0015194;L-serine transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SERINC2 https://www.ncbi.nlm.nih.gov/omim/?term=614549 http://www.informatics.jax.org/searchtool/Search.do?query=SERINC2&submit=Quick%0D%12293ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERINC2 rs3050461 0.739018 0.8244 0.7309 1 0 0 exonic exonic exonic SERINC2 SERINC2 ENSG00000168528 nonframeshift substitution nonframeshift substitution nonframeshift substitution SERINC2:NM_001199038:exon10:c.1116_1116delinsACAG,SERINC2:NM_001199037:exon9:c.1101_1101delinsACAG,SERINC2:NM_178865:exon9:c.1089_1089delinsACAG,SERINC2:NM_001199039:exon10:c.924_924delinsACAG,SERINC2:NM_018565:exon9:c.1101_1101delinsACAG, SERINC2:uc001bst.3:exon9:c.1089_1089delinsACAG,SERINC2:uc010ogh.2:exon9:c.1101_1101delinsACAG,SERINC2:uc021okm.1:exon10:c.1116_1116delinsACAG,SERINC2:uc010ogg.2:exon9:c.1101_1101delinsACAG,SERINC2:uc001bsu.3:exon10:c.924_924delinsACAG, ENSG00000168528:ENST00000536384:exon9:c.1101_1101delinsACAG,ENSG00000168528:ENST00000373710:exon10:c.1116_1116delinsACAG,ENSG00000168528:ENST00000536859:exon9:c.1101_1101delinsACAG,ENSG00000168528:ENST00000373709:exon9:c.1089_1089delinsACAG, Het;+CAG 6077;12|147 Het;+CAG 2343;74|61 Hom;+CAG 3833;9|144 N N - 1 31988653 31988653 C T snp ncRNA_exonic LINC01226 rs2153275 0.389976 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01226 LOC284551 ENSG00000223907 Na Na Na Na Na Na Het;C>T 2423;104|100 Het;C>T 1807;78|82 Hom;C>T 4229;0|144 N N - 1 31989116 31989116 C T snp ncRNA_exonic LINC01226 rs6687694 0.261981 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01226 LOC284551 ENSG00000223907 Na Na Na Na Na Na Het;C>T 228;9|8 Het;C>T 99;6|4 Hom;C>T 313;0|9 N N - 1 31989237 31989237 A G snp ncRNA_exonic LINC01226 rs41263955 0.346845 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01226 LOC284551 ENSG00000223907 Na Na Na Na Na Na Het;A>G 423;6|15 Het;A>G 568;12|23 Hom;A>G 794;0|22 N N - 1 31989261 31989261 C G snp ncRNA_exonic LINC01226 rs41263957 0.303514 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01226 LOC284551 ENSG00000223907 Na Na Na Na Na Na Het;C>G 655;11|22 Het;C>G 654;15|31 Hom;C>G 1111;0|36 N N - 1 32004150 32004150 T G snp intergenic LINC01226 rs4072885 0.700679 0 0 1 0 0 intergenic intergenic intergenic LINC01226(dist=14304),TINAGL1(dist=37936) LOC284551(dist=14304),TINAGL1(dist=37936) ENSG00000223907(dist=14304),ENSG00000229167(dist=33036) Na Na Na Na Na Na Het;T>G 250;13|10 Het;T>G 41;5|3 Hom;T>G 410;0|17 N N - 1 32149982 32149982 A T snp intronic COL16A1 Col16a1 ENSG00000084636 collagen type XVI alpha 1 chain chr1:32117848-32169920 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Collagen chain trimerization GO:0007155;cell adhesion;IDA|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007565;female pregnancy;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0033622;integrin activation;IDA|GO:0033627;cell adhesion mediated by integrin;IDA|GO:0051894;positive regulation of focal adhesion assembly;IDA|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005597;collagen type XVI trimer;TAS|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005178;integrin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL16A1 https://www.uniprot.org/uniprot/Q07092 https://www.ncbi.nlm.nih.gov/omim/?term=120326 http://www.informatics.jax.org/searchtool/Search.do?query=COL16A1&submit=Quick%0D%1864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL16A1 rs10914466 0.132788 0 0 1 0 0 intronic intronic intronic COL16A1 COL16A1 ENSG00000084636 Na Na Na Na Na Na Het;A>T 167;5|7 Het;A>T 90;7|4 Hom;A>T 362;0|12 N N - 1 32742519 32742519 G A snp intronic LCK Lck ENSG00000182866 LCK proto-oncogene, Src family tyrosine kinase chr1:32716840-32751766 This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016] HIV; diabetes, type 1; Tobacco Use Disorder Mice homozygous for mutations of this gene exhibit thymic atrophy with reduced numbers of peripheral T cells. Null mutants have few double positive and no mature single positive (SP) thymocytes. A hypomorph has decreased expression of CD3epsilon chain onSP thymocytes, whose numbers are reduced. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0006468;protein phosphorylation;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006882;cellular zinc ion homeostasis;IEP|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IMP|GO:0030097;hemopoiesis;NAS|GO:0030168;platelet activation;TAS|GO:0030217;T cell differentiation;IMP|GO:0031295;T cell costimulation;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IDA|GO:0045087;innate immune response;IBA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050862;positive regulation of T cell receptor signaling pathway;NAS|GO:0050870;positive regulation of T cell activation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0051249;regulation of lymphocyte activation;NAS|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IMP GO:0000242;pericentriolar material;IDA|GO:0001772;immunological synapse;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0045121;membrane raft;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0001948;glycoprotein binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IMP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;IPI|GO:0042169;SH2 domain binding;IPI|GO:0042608;T cell receptor binding;IPI|GO:0042609;CD4 receptor binding;IPI|GO:0042610;CD8 receptor binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LCK https://hpo.jax.org/app/browse/search?q=LCK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=153390 http://www.informatics.jax.org/searchtool/Search.do?query=LCK&submit=Quick%0D%14868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCK Na 0 0 0 1 0 0 intronic intronic intronic LCK LCK ENSG00000182866 Na Na Na Na Na Na Het;G>A 144;3|5 Het;G>A 65;1|3 Hom;G>A 91;0|3 N N - 1 33231380 33231380 T G snp nonsynonymous SNV T10G F4V aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KIAA1522 C77080 ENSG00000162522 KIAA1522 chr1:33207486-33240571 GO:0030154;cell differentiation;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1522 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1522&submit=Quick%0D%10724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1522 rs6694085 0.141374 0 0.2085 0.33 4 12 exonic exonic exonic KIAA1522 KIAA1522 ENSG00000162522 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV KIAA1522:NM_001198973:exon1:c.T10G:p.F4V,KIAA1522:NM_001198972:exon1:c.T10G:p.F4V, KIAA1522:uc010ohn.1:exon1:c.T10G:p.F4V,KIAA1522:uc001bvv.2:exon1:c.T10G:p.F4V, ENSG00000162522:ENST00000294521:exon1:c.T10G:p.F4V,ENSG00000162522:ENST00000373480:exon1:c.T10G:p.F4V, Het;T>G 1764;59|49 Het;T>G 1100;45|52 Hom;T>G 2958;2|114 N N - 1 33231403 33231403 G T snp synonymous SNV G33T A11A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KIAA1522 C77080 ENSG00000162522 KIAA1522 chr1:33207486-33240571 GO:0030154;cell differentiation;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIAA1522 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1522&submit=Quick%0D%10724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1522 rs6702519 0.141374 0 0.2087 1 0 0 exonic exonic exonic KIAA1522 KIAA1522 ENSG00000162522 synonymous SNV synonymous SNV synonymous SNV KIAA1522:NM_001198973:exon1:c.G33T:p.A11A,KIAA1522:NM_001198972:exon1:c.G33T:p.A11A, KIAA1522:uc010ohn.1:exon1:c.G33T:p.A11A,KIAA1522:uc001bvv.2:exon1:c.G33T:p.A11A, ENSG00000162522:ENST00000294521:exon1:c.G33T:p.A11A,ENSG00000162522:ENST00000373480:exon1:c.G33T:p.A11A, Het;G>T 1925;61|56 Het;G>T 901;44|46 Hom;G>T 3080;2|119 N N - 1 33256884 33256884 C A snp intronic YARS Yars ENSG00000134684 tyrosyl-tRNA synthetase chr1:33240840-33283754 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008] CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE C Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006437;tyrosyl-tRNA aminoacylation;TAS|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;IEA GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0017101;aminoacyl-tRNA synthetase multienzyme complex;IBA|GO:0017102;methionyl glutamyl tRNA synthetase complex;IBA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004831;tyrosine-tRNA ligase activity;TAS|GO:0004871;signal transducer activity;NAS|GO:0005153;interleukin-8 receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/YARS https://www.uniprot.org/uniprot/P54577 https://hpo.jax.org/app/browse/search?q=YARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603623 http://www.informatics.jax.org/searchtool/Search.do?query=YARS&submit=Quick%0D%7013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YARS rs1765223 0.291134 0.3077 0.3082 1 0 0 intronic intronic intronic YARS YARS ENSG00000134684 Na Na Na Na Na Na Het;C>A 859;39|41 Het;C>A 1023;28|43 Hom;C>A 1947;0|72 N N - 1 33283583 33283583 G C snp UTR5 -738C>G YARS Yars ENSG00000134684 tyrosyl-tRNA synthetase chr1:33240840-33283754 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008] CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE C Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006437;tyrosyl-tRNA aminoacylation;TAS|GO:0006915;apoptotic process;TAS|GO:0007165;signal transduction;IEA GO:0005615;extracellular space;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0017101;aminoacyl-tRNA synthetase multienzyme complex;IBA|GO:0017102;methionyl glutamyl tRNA synthetase complex;IBA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004831;tyrosine-tRNA ligase activity;TAS|GO:0004871;signal transducer activity;NAS|GO:0005153;interleukin-8 receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/YARS https://www.uniprot.org/uniprot/P54577 https://hpo.jax.org/app/browse/search?q=YARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603623 http://www.informatics.jax.org/searchtool/Search.do?query=YARS&submit=Quick%0D%7013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YARS rs3737251 0.141374 0 0 1 0 0 UTR5 UTR5 UTR5 YARS(NM_003680:c.-738C>G) YARS(uc001bvy.1:c.-738C>G) ENSG00000134684(ENST00000373477:c.-738C>G) Na Na Na Na Na Na Het;G>C 775;27|34 Het;G>C 413;18|20 Hom;G>C 1244;0|42 N N - 1 33322690 33322690 C CT indel UTR3 *1051C>CT S100PBP S100pbp ENSG00000116497 S100P binding protein chr1:33282368-33324476 This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0048306;calcium-dependent protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/S100PBP https://www.uniprot.org/uniprot/Q96BU1 https://www.ncbi.nlm.nih.gov/omim/?term=611889 http://www.informatics.jax.org/searchtool/Search.do?query=S100PBP&submit=Quick%0D%4746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=S100PBP rs397960548 0.146366 0 0 1 0 0 UTR3 UTR3 UTR3 S100PBP(NM_001256121:c.*1051C>CT,NM_022753:c.*1051C>CT) S100PBP(uc001bvz.4:c.*1051C>CT,uc001bwc.4:c.*1051C>CT) ENSG00000116497(ENST00000373476:c.*1051C>CT,ENST00000373475:c.*1051C>CT) Na Na Na Na Na Na Het;+T 2081;114|91 Het;+T 2269;74|94 Hom;+T 5228;1|175 N N - 1 33324088 33324088 C G snp UTR3 *2449C>G S100PBP S100pbp ENSG00000116497 S100P binding protein chr1:33282368-33324476 This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0048306;calcium-dependent protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/S100PBP https://www.uniprot.org/uniprot/Q96BU1 https://www.ncbi.nlm.nih.gov/omim/?term=611889 http://www.informatics.jax.org/searchtool/Search.do?query=S100PBP&submit=Quick%0D%4746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=S100PBP rs1284365 0.141374 0 0 1 0 0 UTR3 UTR3 UTR3 S100PBP(NM_001256121:c.*2449C>G,NM_022753:c.*2449C>G) S100PBP(uc001bvz.4:c.*2449C>G,uc001bwc.4:c.*2449C>G) ENSG00000116497(ENST00000373475:c.*2449C>G) Na Na Na Na Na Na Het;C>G 2995;157|128 Het;C>G 3709;149|159 Hom;C>G 11146;3|324 N N - 1 33409551 33409551 C T snp intronic RNF19B Rnf19b ENSG00000116514 ring finger protein 19B chr1:33402046-33430286 This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014] Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and an impaired ability to control introduced tumor cells. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044194;cytolytic granule;IBA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF19B https://www.uniprot.org/uniprot/Q6ZMZ0 https://www.ncbi.nlm.nih.gov/omim/?term=610872 http://www.informatics.jax.org/searchtool/Search.do?query=RNF19B&submit=Quick%0D%4747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF19B rs194644 0.370008 0 0 1 0 0 intronic intronic intronic RNF19B RNF19B ENSG00000116514 Na Na Na Na Na Na Het;C>T 510;21|22 Het;C>T 395;24|21 Hom;C>T 1150;0|42 N N - 1 33409693 33409693 G A snp synonymous SNV C1329T G443G aliphatic,neutral aliphatic,neutral RNF19B Rnf19b ENSG00000116514 ring finger protein 19B chr1:33402046-33430286 This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014] Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and an impaired ability to control introduced tumor cells. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044194;cytolytic granule;IBA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF19B https://www.uniprot.org/uniprot/Q6ZMZ0 https://www.ncbi.nlm.nih.gov/omim/?term=610872 http://www.informatics.jax.org/searchtool/Search.do?query=RNF19B&submit=Quick%0D%4747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF19B rs194645 0.188498 0.1692 0.2301 1 0 0 exonic exonic exonic RNF19B RNF19B ENSG00000116514 synonymous SNV synonymous SNV synonymous SNV RNF19B:NM_001127361:exon6:c.C1329T:p.G443G,RNF19B:NM_001300826:exon6:c.C1329T:p.G443G,RNF19B:NM_153341:exon6:c.C1332T:p.G444G, RNF19B:uc010oho.2:exon6:c.C1332T:p.G444G,RNF19B:uc010ohp.2:exon6:c.C1329T:p.G443G,RNF19B:uc001bwm.4:exon6:c.C1329T:p.G443G, ENSG00000116514:ENST00000373456:exon6:c.C1332T:p.G444G,ENSG00000116514:ENST00000356990:exon6:c.C1329T:p.G443G,ENSG00000116514:ENST00000235150:exon6:c.C1329T:p.G443G, Het;G>A 1340;74|63 Het;G>A 1205;56|57 Hom;G>A 3862;0|140 N N - 1 33416907 33416907 G A snp intronic RNF19B Rnf19b ENSG00000116514 ring finger protein 19B chr1:33402046-33430286 This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014] Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and an impaired ability to control introduced tumor cells. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044194;cytolytic granule;IBA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF19B https://www.uniprot.org/uniprot/Q6ZMZ0 https://www.ncbi.nlm.nih.gov/omim/?term=610872 http://www.informatics.jax.org/searchtool/Search.do?query=RNF19B&submit=Quick%0D%4747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF19B rs194647 0.188299 0 0 1 0 0 intronic intronic intronic RNF19B RNF19B ENSG00000116514 Na Na Na Na Na Na Het;G>A 209;8|10 Het;G>A 88;7|5 Hom;G>A 501;0|18 N N - 1 33475426 33475426 C T snp UTR3 *1004G>A AK2 Ak2 ENSG00000004455 adenylate kinase 2 chr1:33473585-33546597 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] Acquired Immunodeficiency Syndrome|Disease Progression Interconversion of nucleotide di- and triphosphates GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006172;ADP biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046939;nucleotide phosphorylation;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005758;mitochondrial intermembrane space;TAS|GO:0036126;sperm flagellum;IEA|GO:0070062;extracellular exosome;IDA|GO:0097226;sperm mitochondrial sheath;IEA GO:0000166;nucleotide binding;IEA|GO:0004017;adenylate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016776;phosphotransferase activity, phosphate group as acceptor;IEA|GO:0019205;nucleobase-containing compound kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AK2 https://www.uniprot.org/uniprot/P54819 https://hpo.jax.org/app/browse/search?q=AK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=103020 http://www.informatics.jax.org/searchtool/Search.do?query=AK2&submit=Quick%0D%316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AK2 rs998664 0.222045 0 0.2861 1 0 0 UTR3 ncRNA_intronic ncRNA_intronic AK2(NM_013411:c.*1004G>A,NM_001199199:c.*1004G>A) BC036308 ENSG00000236065 Na Na Na Na Na Na Het;C>T 1501;106|65 Het;C>T 1799;81|75 Hom;C>T 3160;3|108 N N - 1 33475791 33475791 A G snp UTR3 *639T>C AK2 Ak2 ENSG00000004455 adenylate kinase 2 chr1:33473585-33546597 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] Acquired Immunodeficiency Syndrome|Disease Progression Interconversion of nucleotide di- and triphosphates GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006172;ADP biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0046033;AMP metabolic process;IEA|GO:0046034;ATP metabolic process;IEA|GO:0046939;nucleotide phosphorylation;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005758;mitochondrial intermembrane space;TAS|GO:0036126;sperm flagellum;IEA|GO:0070062;extracellular exosome;IDA|GO:0097226;sperm mitochondrial sheath;IEA GO:0000166;nucleotide binding;IEA|GO:0004017;adenylate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016776;phosphotransferase activity, phosphate group as acceptor;IEA|GO:0019205;nucleobase-containing compound kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AK2 https://www.uniprot.org/uniprot/P54819 https://hpo.jax.org/app/browse/search?q=AK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=103020 http://www.informatics.jax.org/searchtool/Search.do?query=AK2&submit=Quick%0D%316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AK2 rs6884 0 0 0.5495 1 0 0 UTR3 ncRNA_intronic ncRNA_intronic AK2(NM_013411:c.*639T>C,NM_001199199:c.*639T>C) BC036308 ENSG00000236065 Na Na Na Na Na Na Het;A>G 7847;96|280 Het;A>G 6401;106|201 Hom;A>G 9923;0|303 N N - 1 33547768 33547768 T C snp UTR5 -1751T>C ADC rs1871322 0.315296 0 0 1 0 0 intronic UTR5 intronic AZIN2 ADC(uc001bwx.1:c.-1751T>C) ENSG00000142920 Na Na Na Na Na Na Het;T>C 578;32|25 Het;T>C 283;36|18 Hom;T>C 771;2|31 N N - 1 33631069 33631069 C A snp intronic TRIM62 Trim62 ENSG00000116525 tripartite motif containing 62 chr1:33611003-33647660 Tobacco Use Disorder Mice heterozygous or homozygous for a targeted allele exhibit increased tumorigenesis. Interferon gamma signaling GO:0010719;negative regulation of epithelial to mesenchymal transition;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032897;negative regulation of viral transcription;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045087;innate immune response;IMP|GO:0046596;regulation of viral entry into host cell;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1902186;regulation of viral release from host cell;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRIM62 https://www.uniprot.org/uniprot/Q9BVG3 https://www.ncbi.nlm.nih.gov/omim/?term=616755 http://www.informatics.jax.org/searchtool/Search.do?query=TRIM62&submit=Quick%0D%4749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM62 rs2306257 0.1877 0.1877 0.3338 1 0 0 intronic intronic intronic TRIM62 TRIM62 ENSG00000116525 Na Na Na Na Na Na Het;C>A 1050;28|43 Het;C>A 965;34|42 Hom;C>A 2055;1|78 N N - 1 33741787 33741787 G A snp intronic ZNF362 Zfp362 ENSG00000160094 zinc finger protein 362 chr1:33722146-33766320 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF362 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF362&submit=Quick%0D%10400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF362 rs12743549 0.166733 0.1688 0.2034 1 0 0 intronic intronic intronic ZNF362 ZNF362 ENSG00000160094 Na Na Na Na Na Na Het;G>A 510;23|23 Het;G>A 502;25|20 Hom;G>A 1213;0|45 N N - 1 33741895 33741895 G A snp intronic ZNF362 Zfp362 ENSG00000160094 zinc finger protein 362 chr1:33722146-33766320 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF362 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF362&submit=Quick%0D%10400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF362 rs12743740 0.166534 0 0 1 0 0 intronic intronic intronic ZNF362 ZNF362 ENSG00000160094 Na Na Na Na Na Na Het;G>A 205;21|10 Het;G>A 265;31|14 Hom;G>A 934;2|36 N N - 1 33761014 33761014 C CAAAG indel intronic ZNF362 Zfp362 ENSG00000160094 zinc finger protein 362 chr1:33722146-33766320 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF362 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF362&submit=Quick%0D%10400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF362 rs34749979 0.525359 0 0 1 0 0 intronic intronic intronic ZNF362 ZNF362 ENSG00000160094 Na Na Na Na Na Na Het;+AAAG 565;9|15 Het;+AAAG 341;14|10 Hom;+AAAG 953;0|22 N N - 1 33790496 33790496 G A snp synonymous SNV C942T Y314Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic PHC2 Phc2 ENSG00000134686 polyhomeotic homolog 2 chr1:33789224-33896653 In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. Regulation of PTEN gene transcription GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHC2 https://www.uniprot.org/uniprot/Q8IXK0 https://www.ncbi.nlm.nih.gov/omim/?term=602979 http://www.informatics.jax.org/searchtool/Search.do?query=PHC2&submit=Quick%0D%7014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHC2 rs11554674 0.172923 0.1809 0.2133 1 0 0 exonic exonic exonic PHC2 PHC2 ENSG00000134686 synonymous SNV synonymous SNV synonymous SNV PHC2:NM_004427:exon7:c.C942T:p.Y314Y,PHC2:NM_198040:exon14:c.C2547T:p.Y849Y, PHC2:uc001bxh.1:exon13:c.C2463T:p.Y821Y,PHC2:uc001bxe.1:exon7:c.C942T:p.Y314Y,PHC2:uc001bxg.1:exon14:c.C2547T:p.Y849Y,PHC2:uc009vuh.1:exon15:c.C2550T:p.Y850Y, ENSG00000134686:ENST00000419414:exon15:c.C2550T:p.Y850Y,ENSG00000134686:ENST00000373422:exon8:c.C1365T:p.Y455Y,ENSG00000134686:ENST00000431992:exon13:c.C2460T:p.Y820Y,ENSG00000134686:ENST00000257118:exon14:c.C2547T:p.Y849Y,ENSG00000134686:ENST00000373418:exon7:c.C942T:p.Y314Y, Het;G>A 1254;88|59 Het;G>A 1449;91|70 Hom;G>A 3731;1|143 N N - 1 33794852 33794852 C T snp intronic PHC2 Phc2 ENSG00000134686 polyhomeotic homolog 2 chr1:33789224-33896653 In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. Regulation of PTEN gene transcription GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHC2 https://www.uniprot.org/uniprot/Q8IXK0 https://www.ncbi.nlm.nih.gov/omim/?term=602979 http://www.informatics.jax.org/searchtool/Search.do?query=PHC2&submit=Quick%0D%7014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHC2 rs12040040 0.171326 0 0 1 0 0 intronic intronic intronic PHC2 PHC2 ENSG00000134686 Na Na Na Na Na Na Het;C>T 140;3|5 Het;C>T 105;3|4 Hom;C>T 152;0|4 N N - 1 33799548 33799548 C T snp intronic PHC2 Phc2 ENSG00000134686 polyhomeotic homolog 2 chr1:33789224-33896653 In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. Regulation of PTEN gene transcription GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHC2 https://www.uniprot.org/uniprot/Q8IXK0 https://www.ncbi.nlm.nih.gov/omim/?term=602979 http://www.informatics.jax.org/searchtool/Search.do?query=PHC2&submit=Quick%0D%7014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHC2 rs12044118 0.171326 0 0 1 0 0 intronic intronic intronic PHC2 PHC2 ENSG00000134686 Na Na Na Na Na Na Het;C>T 198;5|7 Ref Hom;C>T 155;0|5 N N - 1 33799900 33799900 G A snp intronic PHC2 Phc2 ENSG00000134686 polyhomeotic homolog 2 chr1:33789224-33896653 In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. Regulation of PTEN gene transcription GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHC2 https://www.uniprot.org/uniprot/Q8IXK0 https://www.ncbi.nlm.nih.gov/omim/?term=602979 http://www.informatics.jax.org/searchtool/Search.do?query=PHC2&submit=Quick%0D%7014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHC2 rs12734630 0.171126 0.1771 0.2100 1 0 0 intronic intronic intronic PHC2 PHC2 ENSG00000134686 Na Na Na Na Na Na Het;G>A 791;44|37 Het;G>A 569;40|29 Hom;G>A 2059;0|71 N N - 1 33820134 33820134 C T snp nonsynonymous SNV G1339A V447M aliphatic,hydrophobic,neutral hydrophobic,neutral PHC2 Phc2 ENSG00000134686 polyhomeotic homolog 2 chr1:33789224-33896653 In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence. Regulation of PTEN gene transcription GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHC2 https://www.uniprot.org/uniprot/Q8IXK0 https://www.ncbi.nlm.nih.gov/omim/?term=602979 http://www.informatics.jax.org/searchtool/Search.do?query=PHC2&submit=Quick%0D%7014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHC2 rs12026290 0.171526 0.1771 0.2117 0.15 2 13 exonic exonic exonic PHC2 PHC2 ENSG00000134686 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PHC2:NM_198040:exon8:c.G1423A:p.V475M, PHC2:uc001bxh.1:exon7:c.G1339A:p.V447M,PHC2:uc001bxg.1:exon8:c.G1423A:p.V475M,PHC2:uc009vuh.1:exon9:c.G1426A:p.V476M, ENSG00000134686:ENST00000419414:exon9:c.G1426A:p.V476M,ENSG00000134686:ENST00000373422:exon2:c.G241A:p.V81M,ENSG00000134686:ENST00000431992:exon7:c.G1336A:p.V446M,ENSG00000134686:ENST00000257118:exon8:c.G1423A:p.V475M, Het;C>T 781;56|37 Het;C>T 952;50|47 Hom;C>T 2148;0|80 N N - 1 33824511 33824511 T C snp ncRNA_exonic LOC101929464 rs12043497 0.171526 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101929464 PHC2 ENSG00000233246 Na Na Na Na Na Na Het;T>C 1265;47|56 Het;T>C 685;66|34 Hom;T>C 3550;0|128 N N - 1 3478290 3478290 T C snp intronic MEGF6 Megf6 ENSG00000162591 multiple EGF like domains 6 chr1:3406484-3528059 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MEGF6 https://www.ncbi.nlm.nih.gov/omim/?term=604266 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF6&submit=Quick%0D%10735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF6 rs74048619 0.0577077 0 0 1 0 0 intronic intronic intronic MEGF6 MEGF6 ENSG00000162591 Na Na Na Na Na Na Het;T>C 93;2|5 Ref Hom;T>C 71;0|4 N N - 1 36202585 36202585 G A snp nonsynonymous SNV C3647T S1216L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CLSPN Clspn ENSG00000092853 claspin chr1:36185819-36235568 The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] breast cancer; Bipolar Disorder Mice homozygous for a null mutation display embryonic lethality during organogenesis. Processing of DNA double-strand break ends GO:0000077;DNA damage checkpoint;IMP|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0033314;mitotic DNA replication checkpoint;IMP|GO:0097194;execution phase of apoptosis;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010997;anaphase-promoting complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLSPN https://www.uniprot.org/uniprot/Q9HAW4 https://www.ncbi.nlm.nih.gov/omim/?term=605434 http://www.informatics.jax.org/searchtool/Search.do?query=CLSPN&submit=Quick%0D%2204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSPN rs35490896 0.0503195 0.0707 0.0563 0.38 5 13 exonic exonic exonic CLSPN CLSPN ENSG00000092853 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CLSPN:NM_001190481:exon23:c.C3647T:p.S1216L,CLSPN:NM_022111:exon24:c.C3839T:p.S1280L, CLSPN:uc009vux.3:exon23:c.C3647T:p.S1216L,CLSPN:uc001bzi.3:exon24:c.C3839T:p.S1280L, ENSG00000092853:ENST00000251195:exon24:c.C3839T:p.S1280L,ENSG00000092853:ENST00000373220:exon23:c.C3647T:p.S1216L,ENSG00000092853:ENST00000520551:exon24:c.C3680T:p.S1227L,ENSG00000092853:ENST00000318121:exon24:c.C3839T:p.S1280L, Het;G>A 1023;49|46 Het;G>A 962;49|45 Hom;G>A 3117;0|111 N N - 1 36203659 36203662 TTTC T indel nonframeshift substitution 3403_3406A CLSPN Clspn ENSG00000092853 claspin chr1:36185819-36235568 The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] breast cancer; Bipolar Disorder Mice homozygous for a null mutation display embryonic lethality during organogenesis. Processing of DNA double-strand break ends GO:0000077;DNA damage checkpoint;IMP|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0031572;G2 DNA damage checkpoint;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0033314;mitotic DNA replication checkpoint;IMP|GO:0097194;execution phase of apoptosis;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0010997;anaphase-promoting complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLSPN https://www.uniprot.org/uniprot/Q9HAW4 https://www.ncbi.nlm.nih.gov/omim/?term=605434 http://www.informatics.jax.org/searchtool/Search.do?query=CLSPN&submit=Quick%0D%2204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSPN rs200760879 0.028155 0.0462 0.0490 1 0 0 exonic exonic exonic CLSPN CLSPN ENSG00000092853 nonframeshift substitution nonframeshift substitution nonframeshift substitution CLSPN:NM_001190481:exon21:c.3403_3406A,CLSPN:NM_022111:exon22:c.3595_3598A, CLSPN:uc009vux.3:exon21:c.3403_3406A,CLSPN:uc001bzi.3:exon22:c.3595_3598A, ENSG00000092853:ENST00000251195:exon22:c.3595_3598A,ENSG00000092853:ENST00000373220:exon21:c.3403_3406A,ENSG00000092853:ENST00000520551:exon22:c.3436_3439A,ENSG00000092853:ENST00000318121:exon22:c.3595_3598A, Het;-TTC 992;21|26 Het;-TTC 1275;25|34 Hom;-TTC 2939;1|68 N N - 1 36291750 36291750 G A snp intronic AGO4 Ago4 ENSG00000134698 argonaute 4, RISC catalytic component chr1:36273773-36323491 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008] Male mice homozygous for a null mutation display oligozoospermia, decreased testis weight, premature entry into meiosis and disruption of sex body formation. However both males and females are fertile. Competing endogenous RNAs (ceRNAs) regulate PTEN translation GO:0006402;mRNA catabolic process;IDA|GO:0006417;regulation of translation;IEA|GO:0007130;synaptonemal complex assembly;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0008584;male gonad development;IEA|GO:0010501;RNA secondary structure unwinding;IDA|GO:0010586;miRNA metabolic process;IEA|GO:0022604;regulation of cell morphogenesis;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0031054;pre-miRNA processing;IDA|GO:0035194;posttranscriptional gene silencing by RNA;TAS|GO:0035196;production of miRNAs involved in gene silencing by miRNA;IMP|GO:0035278;miRNA mediated inhibition of translation;IDA|GO:0035280;miRNA loading onto RISC involved in gene silencing by miRNA;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS GO:0000932;P-body;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016442;RISC complex;IDA|GO:0016604;nuclear body;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0035068;micro-ribonucleoprotein complex;IEA|GO:0070578;RISC-loading complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0003727;single-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AGO4 https://www.uniprot.org/uniprot/Q9HCK5 https://www.ncbi.nlm.nih.gov/omim/?term=607356 http://www.informatics.jax.org/searchtool/Search.do?query=AGO4&submit=Quick%0D%7017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGO4 rs72659690 0.0435304 0 0 1 0 0 intronic intronic intronic AGO4 AGO4 ENSG00000134698 Na Na Na Na Na Na Het;G>A 685;17|28 Het;G>A 201;13|11 Hom;G>A 1274;0|47 N N - 1 36292258 36292258 A G snp intronic AGO4 Ago4 ENSG00000134698 argonaute 4, RISC catalytic component chr1:36273773-36323491 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008] Male mice homozygous for a null mutation display oligozoospermia, decreased testis weight, premature entry into meiosis and disruption of sex body formation. However both males and females are fertile. Competing endogenous RNAs (ceRNAs) regulate PTEN translation GO:0006402;mRNA catabolic process;IDA|GO:0006417;regulation of translation;IEA|GO:0007130;synaptonemal complex assembly;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0008584;male gonad development;IEA|GO:0010501;RNA secondary structure unwinding;IDA|GO:0010586;miRNA metabolic process;IEA|GO:0022604;regulation of cell morphogenesis;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0031054;pre-miRNA processing;IDA|GO:0035194;posttranscriptional gene silencing by RNA;TAS|GO:0035196;production of miRNAs involved in gene silencing by miRNA;IMP|GO:0035278;miRNA mediated inhibition of translation;IDA|GO:0035280;miRNA loading onto RISC involved in gene silencing by miRNA;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS GO:0000932;P-body;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016442;RISC complex;IDA|GO:0016604;nuclear body;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0035068;micro-ribonucleoprotein complex;IEA|GO:0070578;RISC-loading complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0003727;single-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AGO4 https://www.uniprot.org/uniprot/Q9HCK5 https://www.ncbi.nlm.nih.gov/omim/?term=607356 http://www.informatics.jax.org/searchtool/Search.do?query=AGO4&submit=Quick%0D%7017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGO4 rs72659692 0.0435304 0 0 1 0 0 intronic intronic intronic AGO4 AGO4 ENSG00000134698 Na Na Na Na Na Na Het;A>G 243;9|8 Het;A>G 317;5|10 Hom;A>G 283;0|9 N N - 1 36645811 36645811 T G snp intronic MAP7D1 Map7d1 ENSG00000116871 MAP7 domain containing 1 chr1:36621180-36646450 GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0015630;microtubule cytoskeleton;IEA GO:0005198;structural molecule activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MAP7D1 https://www.uniprot.org/uniprot/Q3KQU3 http://www.informatics.jax.org/searchtool/Search.do?query=MAP7D1&submit=Quick%0D%4804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP7D1 rs41267273 0.0541134 0.0875 0.0933 1 0 0 intronic intronic intronic MAP7D1 MAP7D1 ENSG00000116871 Na Na Na Na Na Na Het;T>G 585;22|23 Het;T>G 618;31|27 Hom;T>G 1041;0|36 N N - 1 38155287 38155287 C T snp nonsynonymous SNV G266A G89E aliphatic,neutral polar,hydrophilic,charged(-) C1orf109 9930104L06Rik ENSG00000116922 chromosome 1 open reading frame 109 chr1:38147242-38157914 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C1orf109 https://www.uniprot.org/uniprot/Q9NX04 https://www.ncbi.nlm.nih.gov/omim/?term=614799 http://www.informatics.jax.org/searchtool/Search.do?query=C1orf109&submit=Quick%0D%4812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf109 rs141954200 0.000599042 0.0003 0.0006 0.00 0 12 exonic exonic exonic C1orf109 C1orf109 ENSG00000116922 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV C1orf109:NM_017850:exon2:c.G266A:p.G89E,C1orf109:NM_001303030:exon2:c.G452A:p.G151E,C1orf109:NM_001303031:exon2:c.G455A:p.G152E, C1orf109:uc001cbp.3:exon2:c.G266A:p.G89E,C1orf109:uc010oig.2:exon2:c.G455A:p.G152E,C1orf109:uc001cbo.3:exon2:c.G452A:p.G151E, ENSG00000116922:ENST00000486637:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000491981:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000464085:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000461359:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000358011:exon2:c.G266A:p.G89E,ENSG00000116922:ENST00000477060:exon2:c.G266A:p.G89E, Het;C>T 696;44|31 Het;C>T 941;27|36 Hom;C>T 2415;2|63 N N - 1 38155687 38155687 G GT indel UTR5 -135C>AC C1orf109 9930104L06Rik ENSG00000116922 chromosome 1 open reading frame 109 chr1:38147242-38157914 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C1orf109 https://www.uniprot.org/uniprot/Q9NX04 https://www.ncbi.nlm.nih.gov/omim/?term=614799 http://www.informatics.jax.org/searchtool/Search.do?query=C1orf109&submit=Quick%0D%4812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf109 Na 0 0 0 1 0 0 intronic intronic UTR5 C1orf109 C1orf109 ENSG00000116922(ENST00000486637:c.-135C>AC) Na Na Na Na Na Na Het;+T 74;2|5 Ref Hom;+T 176;0|8 N N - 1 38219761 38219761 C T snp intronic EPHA10 Epha10 ENSG00000183317 EPH receptor A10 chr1:38179552-38230805 Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008] Prostatic Neoplasms EPH-ephrin mediated repulsion of cells GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPHA10 https://www.ncbi.nlm.nih.gov/omim/?term=611123 http://www.informatics.jax.org/searchtool/Search.do?query=EPHA10&submit=Quick%0D%14968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA10 rs681890 0.375799 0 0 1 0 0 intronic intronic intronic EPHA10 EPHA10 ENSG00000183317 Na Na Na Na Na Na Het;C>T 66;2|3 Ref Hom;C>T 107;0|5 N N - 1 38345613 38345613 G A snp intronic INPP5B Inpp5b ENSG00000204084 inositol polyphosphate-5-phosphatase B chr1:38326369-38412729 This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014] Disease Homozygous null male mice are infertile with a disruption in spermatogenesis and a defect in adherens junctions processing. Rho GTPase cycle GO:0001701;in utero embryonic development;IEA|GO:0007165;signal transduction;IEA|GO:0007283;spermatogenesis;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IDA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0070613;regulation of protein processing;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA GO:0004439;phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0052658;inositol-1,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/INPP5B https://www.ncbi.nlm.nih.gov/omim/?term=147264 http://www.informatics.jax.org/searchtool/Search.do?query=INPP5B&submit=Quick%0D%17196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5B rs540593660 0.000798722 0 0 1 0 0 intronic intronic intronic INPP5B INPP5B ENSG00000204084 Na Na Na Na Na Na Het;G>A 97;3|4 Het;G>A 125;3|5 Hom;G>A 117;0|4 N N - 1 38447615 38447615 G T snp intronic SF3A3 Sf3a3 ENSG00000183431 splicing factor 3a subunit 3 chr1:38422647-38456593 This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] mRNA Splicing - Major Pathway GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000389;mRNA 3'-splice site recognition;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;TAS|GO:0008380;RNA splicing;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IDA|GO:0016607;nuclear speck;IEA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SF3A3 https://www.ncbi.nlm.nih.gov/omim/?term=605596 http://www.informatics.jax.org/searchtool/Search.do?query=SF3A3&submit=Quick%0D%14989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SF3A3 rs7533079 0.905551 0 0 1 0 0 intronic intronic intronic SF3A3 SF3A3 ENSG00000183431 Na Na Na Na Na Na Het;G>T 173;5|7 Ref Hom;G>T 199;0|6 N N - 1 38463504 38463504 C T snp synonymous SNV G540A P180P hydrophobic,neutral hydrophobic,neutral FHL3 Fhl3 ENSG00000183386 four and a half LIM domains 3 chr1:38462442-38471278 The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] HIV Infections|[X]Human immunodeficiency virus disease GO:0007517;muscle organ development;TAS|GO:0030036;actin cytoskeleton organization;IEA GO:0001725;stress fiber;IEA|GO:0005634;nucleus;IEA|GO:0005925;focal adhesion;IDA|GO:0030018;Z disc;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FHL3 https://www.ncbi.nlm.nih.gov/omim/?term=602790 http://www.informatics.jax.org/searchtool/Search.do?query=FHL3&submit=Quick%0D%14980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHL3 rs7366048 0.575679 0.4975 0.4748 1 0 0 exonic exonic exonic FHL3 FHL3 ENSG00000183386 synonymous SNV synonymous SNV synonymous SNV FHL3:NM_004468:exon5:c.G540A:p.P180P,FHL3:NM_001243878:exon4:c.G216A:p.P72P, FHL3:uc001cck.3:exon5:c.G540A:p.P180P,FHL3:uc001ccm.3:exon4:c.G216A:p.P72P, ENSG00000183386:ENST00000373016:exon5:c.G540A:p.P180P, Het;C>T 2842;162|130 Het;C>T 1621;114|77 Hom;C>T 5403;4|199 N N - 1 38605066 38605066 G A snp intergenic MIR3659 rs72663635 0.0756789 0 0 1 0 0 intergenic intergenic intergenic MIR3659(dist=50065),LINC01343(dist=69640) MIR3659(dist=50065),LOC339442(dist=69640) ENSG00000224592(dist=20369),ENSG00000237290(dist=69640) Na Na Na Na Na Na Het;G>A 426;15|20 Het;G>A 313;21|15 Hom;G>A 859;0|34 N N - 1 38674880 38674880 C A snp ncRNA_exonic LINC01343 rs72663686 0.00439297 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC01343 LOC339442(uc021olp.1:c.*1668G>T) ENSG00000237290 Na Na Na Na Na Na Het;C>A 2222;113|102 Het;C>A 2114;151|101 Hom;C>A 4849;2|173 N N - 1 38676170 38676170 G A snp ncRNA_exonic LINC01343 rs72663687 0.00439297 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC01343 LOC339442(uc021olp.1:c.*378C>T) ENSG00000237290 Na Na Na Na Na Na Het;G>A 1731;57|66 Het;G>A 1258;63|55 Hom;G>A 3252;0|116 N N - 1 38683866 38683866 G A snp intergenic LINC01343 rs12077263 0.304712 0 0 1 0 0 intergenic intergenic intergenic LINC01343(dist=3427),RRAGC(dist=620003) LOC339442(dist=3427),RRAGC(dist=620003) ENSG00000237290(dist=3427),ENSG00000200796(dist=178465) Na Na Na Na Na Na Het;G>A 120;2|5 Ref Hom;G>A 120;0|6 N N - 1 39457006 39457006 C T snp UTR5 -47C>T AKIRIN1 Akirin1 ENSG00000174574 akirin 1 chr1:39456895-39471731 Mice homozygous for a knock-out allele are viable, healthy and do not exhibit any gross developmental abnormalities. GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0031965;nuclear membrane;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AKIRIN1 https://www.ncbi.nlm.nih.gov/omim/?term=615164 http://www.informatics.jax.org/searchtool/Search.do?query=AKIRIN1&submit=Quick%0D%13546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKIRIN1 rs12043492 0.6252 0 0.7769 1 0 0 UTR5 UTR5 UTR5 AKIRIN1(NM_024595:c.-47C>T,NM_001136275:c.-47C>T) AKIRIN1(uc001ccw.3:c.-47C>T,uc010oip.2:c.-47C>T,uc010oiq.2:c.-47C>T) ENSG00000174574(ENST00000432648:c.-47C>T,ENST00000372984:c.-47C>T,ENST00000446189:c.-47C>T) Na Na Na Na Na Na Het;C>T 116;2|5 Ref Hom;C>T 235;0|9 N N - 1 40315888 40315888 A T snp nonsynonymous SNV T606A F202L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRIT1 Trit1 ENSG00000043514 tRNA isopentenyltransferase 1 chr1:40306723-40349183 This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; lung cancer; breast cancer Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality between implantation and somite formation. tRNA modification in the mitochondrion GO:0008033;tRNA processing;IEA|GO:0009058;biosynthetic process;IEA|GO:0070900;mitochondrial tRNA modification;TAS GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004161;dimethylallyltranstransferase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0052381;tRNA dimethylallyltransferase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/TRIT1 https://www.uniprot.org/uniprot/Q9H3H1 https://hpo.jax.org/app/browse/search?q=TRIT1&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=TRIT1&submit=Quick%0D%847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIT1 rs3738671 0.171126 0.0899 0.1041 0.15 2 13 exonic exonic exonic TRIT1 TRIT1 ENSG00000043514 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV TRIT1:NM_017646:exon5:c.T606A:p.F202L, TRIT1:uc021olz.1:exon5:c.T606A:p.F202L,TRIT1:uc001cem.3:exon3:c.T366A:p.F122L,TRIT1:uc009vvv.3:exon3:c.T183A:p.F61L, ENSG00000043514:ENST00000441669:exon3:c.T366A:p.F122L,ENSG00000043514:ENST00000469476:exon4:c.T414A:p.F138L,ENSG00000043514:ENST00000462797:exon5:c.T606A:p.F202L,ENSG00000043514:ENST00000372818:exon5:c.T606A:p.F202L,ENSG00000043514:ENST00000316891:exon5:c.T606A:p.F202L, Het;A>T 1382;72|67 Het;A>T 1326;80|67 Hom;A>T 3664;2|140 N N - 1 41232194 41232194 T C snp intronic NFYC Nfyc ENSG00000066136 nuclear transcription factor Y subunit gamma chr1:41157320-41237275 This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Carcinoma, Renal Cell|Kidney Neoplasms; Neutrophils ATF6 (ATF6-alpha) activates chaperone genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006457;protein folding;TAS|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016602;CCAAT-binding factor complex;IDA|GO:0032993;protein-DNA complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NFYC https://www.uniprot.org/uniprot/Q13952 https://www.ncbi.nlm.nih.gov/omim/?term=605344 http://www.informatics.jax.org/searchtool/Search.do?query=NFYC&submit=Quick%0D%1209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFYC rs34212676 0.290935 0 0 1 0 0 intronic intronic intronic NFYC NFYC ENSG00000066136 Na Na Na Na Na Na Het;T>C 293;11|12 Ref Hom;T>C 266;0|8 N N - 1 41284509 41284509 C G snp intronic KCNQ4 Kcnq4 ENSG00000117013 potassium voltage-gated channel subfamily Q member 4 chr1:41249684-41306124 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hearing loss, sensorineural nonsyndromic; Hearing Loss, Noise-Induced; hearing loss, age-related; hearing loss, noise-induced Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007605;sensory perception of sound;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNQ4 https://www.uniprot.org/uniprot/P56696 https://hpo.jax.org/app/browse/search?q=KCNQ4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603537 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ4&submit=Quick%0D%4827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ4 rs2361658 0.561701 0 0 1 0 0 intronic intronic intronic KCNQ4 KCNQ4 ENSG00000117013 Na Na Na Na Na Na Het;C>G 85;2|4 Ref Hom;C>G 153;0|6 N N - 1 41284520 41284520 A G snp intronic KCNQ4 Kcnq4 ENSG00000117013 potassium voltage-gated channel subfamily Q member 4 chr1:41249684-41306124 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hearing loss, sensorineural nonsyndromic; Hearing Loss, Noise-Induced; hearing loss, age-related; hearing loss, noise-induced Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007605;sensory perception of sound;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNQ4 https://www.uniprot.org/uniprot/P56696 https://hpo.jax.org/app/browse/search?q=KCNQ4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603537 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ4&submit=Quick%0D%4827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ4 rs2361657 0.560503 0 0 1 0 0 intronic intronic intronic KCNQ4 KCNQ4 ENSG00000117013 Na Na Na Na Na Na Het;A>G 260;2|7 Ref Hom;A>G 176;0|5 N N - 1 41284527 41284527 T G snp intronic KCNQ4 Kcnq4 ENSG00000117013 potassium voltage-gated channel subfamily Q member 4 chr1:41249684-41306124 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] hearing loss, sensorineural nonsyndromic; Hearing Loss, Noise-Induced; hearing loss, age-related; hearing loss, noise-induced Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007605;sensory perception of sound;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009925;basal plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNQ4 https://www.uniprot.org/uniprot/P56696 https://hpo.jax.org/app/browse/search?q=KCNQ4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603537 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ4&submit=Quick%0D%4827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ4 rs2885330 0.5623 0 0 1 0 0 intronic intronic intronic KCNQ4 KCNQ4 ENSG00000117013 Na Na Na Na Na Na Het;T>G 260;2|7 Ref Hom;T>G 141;0|4 N N - 1 41841120 41841144 CAAGAAAGAAAGAAAGAAAGAAAGA C indel ncRNA_intronic AC093151.2 rs148053562 0.89976 0 0 1 0 0 intronic intergenic ncRNA_intronic FOXO6 SCMH1(dist=133305),5S_rRNA(dist=91464) ENSG00000229901 Na Na Na Na Na Na Het;-AAGAAAGAAAGAAAGAAAGAAAGA 567;21|16 Het;-AAGAAAGAAAGAAAGAAAGAAAGA 1264;1|31 Hom;-AAGAAAGAAAGAAAGAAAGAAAGA 1212;3|45 N N - 1 42014212 42014213 GT G indel intronic HIVEP3 Hivep3 ENSG00000127124 human immunodeficiency virus type I enhancer binding protein 3 chr1:41972036-42501596 This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] Mental Competency; Tobacco Use Disorder; Echocardiography; Parkinson's disease; Ocular Physiological Phenomena; Type 2 Diabetes| edema | rosiglitazone; Neuropsychological Tests Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP3 https://www.uniprot.org/uniprot/Q5T1R4 https://www.ncbi.nlm.nih.gov/omim/?term=606649 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP3&submit=Quick%0D%6007ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP3 rs11349352 0 0 0 1 0 0 intronic intronic intronic HIVEP3 HIVEP3 ENSG00000127124 Na Na Na Na Na Na Het;-T 111;2|7 Het;-T 47;3|5 Hom;-T 145;0|8 N N - 1 42050366 42050366 C T snp nonsynonymous SNV G103A V35I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HIVEP3 Hivep3 ENSG00000127124 human immunodeficiency virus type I enhancer binding protein 3 chr1:41972036-42501596 This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] Mental Competency; Tobacco Use Disorder; Echocardiography; Parkinson's disease; Ocular Physiological Phenomena; Type 2 Diabetes| edema | rosiglitazone; Neuropsychological Tests Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP3 https://www.uniprot.org/uniprot/Q5T1R4 https://www.ncbi.nlm.nih.gov/omim/?term=606649 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP3&submit=Quick%0D%6007ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP3 rs2146315 0.309305 0.2550 0.2722 0.15 2 13 exonic exonic exonic HIVEP3 HIVEP3 ENSG00000127124 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV HIVEP3:NM_024503:exon4:c.G103A:p.V35I,HIVEP3:NM_001127714:exon3:c.G103A:p.V35I, HIVEP3:uc001cgz.4:exon4:c.G103A:p.V35I,HIVEP3:uc001cha.4:exon3:c.G103A:p.V35I, ENSG00000127124:ENST00000429157:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000372584:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000247584:exon3:c.G103A:p.V35I,ENSG00000127124:ENST00000372583:exon4:c.G103A:p.V35I, Het;C>T 1819;129|81 Het;C>T 2540;118|113 Hom;C>T 6178;2|224 N N - 1 42250456 42250456 T C snp intronic HIVEP3 Hivep3 ENSG00000127124 human immunodeficiency virus type I enhancer binding protein 3 chr1:41972036-42501596 This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] Mental Competency; Tobacco Use Disorder; Echocardiography; Parkinson's disease; Ocular Physiological Phenomena; Type 2 Diabetes| edema | rosiglitazone; Neuropsychological Tests Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP3 https://www.uniprot.org/uniprot/Q5T1R4 https://www.ncbi.nlm.nih.gov/omim/?term=606649 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP3&submit=Quick%0D%6007ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP3 rs7517484 0.26258 0 0 1 0 0 intronic intronic intronic HIVEP3 HIVEP3 ENSG00000127124 Na Na Na Na Na Na Het;T>C 1065;41|50 Het;T>C 529;62|30 Hom;T>C 2338;2|91 N N - 1 43573193 43573222 CGGTGGGAGGTGGTGGGGGGGCGGGGGGGT C indel intergenic SLC2A1-AS1 Na 0 0 0 1 0 0 intergenic intergenic intergenic SLC2A1-AS1(dist=124164),FAM183A(dist=40372) U6(dist=83885),AK309744(dist=12597) ENSG00000252803(dist=83885),ENSG00000186973(dist=37602) Na Na Na Na Na Na Het;-GGTGGGAGGTGGTGGGGGGGCGGGGGGGT 44;1|2 Ref Hom;-GGTGGGAGGTGGTGGGGGGGCGGGGGGGT 55;0|2 N N - 1 43738340 43738340 A C snp UTR5 -54A>C TMEM125 Tmem125 ENSG00000179178 transmembrane protein 125 chr1:43735665-43739673 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM125 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM125&submit=Quick%0D%14307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM125 rs10890247 0.60004 0 0 1 0 0 UTR5 UTR5 UTR5 TMEM125(NM_144626:c.-54A>C) TMEM125(uc021oml.1:c.-54A>C,uc001cir.3:c.-54A>C) ENSG00000179178(ENST00000439858:c.-54A>C,ENST00000432792:c.-54A>C,ENST00000456751:c.-54A>C) Na Na Na Na Na Na Het;A>C 411;11|12 Het;A>C 349;9|12 Hom;A>C 557;0|18 N N - 1 43891939 43891939 G A snp intronic SZT2 Szt2 ENSG00000198198 SZT2, KICSTOR complex subunit chr1:43855553-43918321 The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011] Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum Mice homozygous for mutations in this gene display increased susceptibility to induced seizures. Mice homozygous for null mutations also display partial penetrance of prenatal lethality. GO:0007417;central nervous system development;ISS|GO:0009791;post-embryonic development;ISS|GO:0021540;corpus callosum morphogenesis;IMP|GO:0031667;response to nutrient levels;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0042149;cellular response to glucose starvation;IMP|GO:0043473;pigmentation;IEA|GO:0061462;protein localization to lysosome;IMP|GO:1901668;regulation of superoxide dismutase activity;ISS|GO:1904262;negative regulation of TORC1 signaling;IMP GO:0005765;lysosomal membrane;IDA|GO:0005777;peroxisome;IEA|GO:0061700;GATOR2 complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0140007;KICSTOR complex;IDA|GO:1990130;GATOR1 complex;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SZT2 https://hpo.jax.org/app/browse/search?q=SZT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615463 http://www.informatics.jax.org/searchtool/Search.do?query=SZT2&submit=Quick%0D%16844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SZT2 rs143492016 0.0173722 0 0 1 0 0 intronic intronic intronic SZT2 SZT2 ENSG00000198198 Na Na Na Na Na Na Het;G>A 193;1|7 Het;G>A 68;7|4 Hom;G>A 140;0|5 N N - 1 44154479 44154479 G C snp intronic KDM4A Kdm4a ENSG00000066135 lysine demethylase 4A chr1:44115829-44171186 This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009] Hypertension Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IDA|GO:0031667;response to nutrient levels;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032452;histone demethylase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0051864;histone demethylase activity (H3-K36 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/KDM4A https://www.uniprot.org/uniprot/O75164 https://www.ncbi.nlm.nih.gov/omim/?term=609764 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4A&submit=Quick%0D%1208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4A rs3791035 0.170327 0 0 1 0 0 intronic intronic intronic KDM4A KDM4A ENSG00000066135 Na Na Na Na Na Na Het;G>C 155;4|5 Het;G>C 179;5|6 Hom;G>C 150;0|5 N N - 1 44158129 44158129 C G snp intronic KDM4A Kdm4a ENSG00000066135 lysine demethylase 4A chr1:44115829-44171186 This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009] Hypertension Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010507;negative regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016577;histone demethylation;IDA|GO:0031667;response to nutrient levels;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048712;negative regulation of astrocyte differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0070544;histone H3-K36 demethylation;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032452;histone demethylase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0051864;histone demethylase activity (H3-K36 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/KDM4A https://www.uniprot.org/uniprot/O75164 https://www.ncbi.nlm.nih.gov/omim/?term=609764 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4A&submit=Quick%0D%1208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4A rs2270972 0.180511 0 0 1 0 0 intronic intronic intronic KDM4A KDM4A ENSG00000066135 Na Na Na Na Na Na Het;C>G 158;2|5 Het;C>G 82;3|3 Hom;C>G 143;0|5 N N - 1 44173423 44173423 G A snp ncRNA_intronic KDM4A-AS1 rs112984125 0.199681 0 0 1 0 0 intronic intronic ncRNA_intronic ST3GAL3 ST3GAL3 ENSG00000236200 Na Na Na Na Na Na Het;G>A 219;21|12 Het;G>A 237;24|12 Hom;G>A 1184;0|43 N N - 1 44345292 44345292 G A snp intronic ST3GAL3 St3gal3 ENSG00000126091 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 chr1:44171495-44396831 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] Tobacco Use Disorder; Longevity Mice homozygous for disruptions in this gene show an apparently normal phenotype. Termination of O-glycan biosynthesis GO:0006486;protein glycosylation;IEA|GO:0009311;oligosaccharide metabolic process;IBA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA GO:0003836;beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;TAS|GO:0008118;N-acetyllactosaminide alpha-2,3-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ST3GAL3 https://www.uniprot.org/uniprot/Q11203 https://hpo.jax.org/app/browse/search?q=ST3GAL3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606494 http://www.informatics.jax.org/searchtool/Search.do?query=ST3GAL3&submit=Quick%0D%5909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ST3GAL3 rs2527776 0.463259 0 0 1 0 0 intronic intronic intronic ST3GAL3 ST3GAL3 ENSG00000126091 Na Na Na Na Na Na Het;G>A 85;8|4 Het;G>A 191;6|7 Hom;G>A 328;0|11 N N - 1 44587895 44587895 C T snp ncRNA_exonic AL356653.1 rs2485646 0.244409 0 0 1 0 0 intronic intronic ncRNA_exonic KLF17 KLF17 ENSG00000233514 Na Na Na Na Na Na Het;C>T 697;32|33 Het;C>T 879;29|39 Hom;C>T 2301;1|84 N N - 1 45797505 45797505 C G snp nonsynonymous SNV G972C Q324H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) MUTYH Mutyh ENSG00000132781 mutY DNA glycosylase chr1:45794835-45806142 This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Endometrial Cancer; breast cancer ; oral cancer; colorectal cancer; Adenomatous Polyposis Coli|Colonic Polyps; multiple sclerosis; Adenomatous Polyposis Coli|; prostate cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; lung cancer; bladder cancer; null; Adenomatous Polyposis Coli|Microsatellite Instability; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; head and neck cancer; Adenomatous Polyposis Coli; Chronic renal failure|Kidney Failure, Chronic; breast cancer; familial adenomatous polyposis; Colorectal Neoplasms|Intestinal Polyposis; Acquired Immunodeficiency Syndrome|Disease Progression; Graft vs Host Disease; colon polyps; esophageal adenocarcinoma; Hematologic Neoplasms; benzene toxicity; colorectal cancer endometrial cancer; germline mutations; lung cancer ; Adenoma|Colorectal Neoplasms; colorectal cancer; colon polyps; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; breast cancer|colorectal cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms; Occupational Diseases|Poisoning; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms, Hereditary Nonpolyposis; Adenomatous Polyposis Coli|Adenomatous Polyps; Colorectal Neoplasms Homozygous mutant mice are viable and show no increase in tumor incidence relative to wild-type through 17 months of age. Displacement of DNA glycosylase by APEX1 GO:0006281;DNA repair;TAS|GO:0006284;base-excision repair;IEA|GO:0006298;mismatch repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA|GO:0045007;depurination;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA GO:0000701;purine-specific mismatch base pair DNA N-glycosylase activity;IMP|GO:0003677;DNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019104;DNA N-glycosylase activity;TAS|GO:0032407;MutSalpha complex binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUTYH https://www.uniprot.org/uniprot/Q9UIF7 https://hpo.jax.org/app/browse/search?q=MUTYH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604933 http://www.informatics.jax.org/searchtool/Search.do?query=MUTYH&submit=Quick%0D%6741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUTYH rs3219489 0.313498 0.2541 0.2967 0.23 3 13 exonic exonic exonic MUTYH MUTYH ENSG00000132781 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H, MUTYH:uc001cnl.3:exon12:c.G972C:p.Q324H,MUTYH:uc001cnm.3:exon12:c.G1005C:p.Q335H,MUTYH:uc009vxo.3:exon13:c.G930C:p.Q310H,MUTYH:uc001cnh.3:exon12:c.G933C:p.Q311H,MUTYH:uc001cno.3:exon12:c.G654C:p.Q218H,MUTYH:uc001cnn.3:exon12:c.G975C:p.Q325H,MUTYH:uc009vxp.3:exon12:c.G1014C:p.Q338H,MUTYH:uc001cng.3:exon12:c.G963C:p.Q321H,MUTYH:uc001cni.3:exon12:c.G930C:p.Q310H,MUTYH:uc001cnj.3:exon12:c.G654C:p.Q218H,MUTYH:uc001cnf.3:exon12:c.G930C:p.Q310H, ENSG00000132781:ENST00000372104:exon13:c.G930C:p.Q310H,ENSG00000132781:ENST00000528013:exon12:c.G972C:p.Q324H,ENSG00000132781:ENST00000448481:exon12:c.G963C:p.Q321H,ENSG00000132781:ENST00000412971:exon7:c.G546C:p.Q182H,ENSG00000132781:ENST00000372115:exon12:c.G972C:p.Q324H,ENSG00000132781:ENST00000372100:exon12:c.G963C:p.Q321H,ENSG00000132781:ENST00000456914:exon12:c.G930C:p.Q310H,ENSG00000132781:ENST00000355498:exon12:c.G930C:p.Q310H,ENSG00000132781:ENST00000372098:exon12:c.G1005C:p.Q335H,ENSG00000132781:ENST00000467459:exon4:c.G347C:p.S116T,ENSG00000132781:ENST00000372110:exon12:c.G975C:p.Q325H,ENSG00000132781:ENST00000450313:exon12:c.G1014C:p.Q338H,ENSG00000132781:ENST00000354383:exon12:c.G933C:p.Q311H, Het;C>G 2197;73|87 Het;C>G 1822;72|72 Hom;C>G 3697;4|135 N N - 1 45807358 45807359 GT G indel intronic TOE1 Toe1 ENSG00000132773 target of EGR1, member 1 (nuclear) chr1:45805342-45809647 Mice homozygous for a null allele exhibit embryonic lethality before E11.5. GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IEA GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0003676;nucleic acid binding;IEA|GO:0004535;poly(A)-specific ribonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOE1 https://www.uniprot.org/uniprot/Q96GM8 https://hpo.jax.org/app/browse/search?q=TOE1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613931 http://www.informatics.jax.org/searchtool/Search.do?query=TOE1&submit=Quick%0D%6739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOE1 rs35345162 0.439497 0 0 1 0 0 intronic intronic intronic TOE1 TOE1 ENSG00000132773 Na Na Na Na Na Na Het;-T 61;4|6 Ref Hom;-T 167;1|9 N N - 1 45810923 45810923 G A snp synonymous SNV C1305T P435P hydrophobic,neutral hydrophobic,neutral TESK2 Tesk2 ENSG00000070759 testis-specific kinase 2 chr1:45809555-45956872 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] GO:0006468;protein phosphorylation;ISS|GO:0007283;spermatogenesis;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035556;intracellular signal transduction;IBA|GO:0048041;focal adhesion assembly;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007283;spermatogenesis;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035556;intracellular signal transduction;IBA|GO:0048041;focal adhesion assembly;ISS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IBA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TESK2 https://www.uniprot.org/uniprot/Q96S53 https://www.ncbi.nlm.nih.gov/omim/?term=604746 http://www.informatics.jax.org/searchtool/Search.do?query=TESK2&submit=Quick%0D%74ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TESK2 rs3893383 0.174121 0.1491 0.1170 1 0 0 exonic exonic exonic TESK2 TESK2 ENSG00000070759 synonymous SNV synonymous SNV synonymous SNV TESK2:NM_007170:exon11:c.C1305T:p.P435P, TESK2:uc010olo.1:exon10:c.C1056T:p.P352P,TESK2:uc009vxr.1:exon9:c.C1218T:p.P406P,TESK2:uc009vxs.1:exon10:c.C681T:p.P227P,TESK2:uc001cns.1:exon11:c.C1305T:p.P435P, ENSG00000070759:ENST00000538496:exon10:c.C1056T:p.P352P,ENSG00000070759:ENST00000372084:exon9:c.C1218T:p.P406P,ENSG00000070759:ENST00000341771:exon10:c.C1218T:p.P406P,ENSG00000070759:ENST00000372086:exon11:c.C1305T:p.P435P, Het;G>A 1528;124|71 Het;G>A 2368;70|96 Hom;G>A 4243;0|147 N N - 1 45813441 45813441 T C snp intronic TESK2 Tesk2 ENSG00000070759 testis-specific kinase 2 chr1:45809555-45956872 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] GO:0006468;protein phosphorylation;ISS|GO:0007283;spermatogenesis;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035556;intracellular signal transduction;IBA|GO:0048041;focal adhesion assembly;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007283;spermatogenesis;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035556;intracellular signal transduction;IBA|GO:0048041;focal adhesion assembly;ISS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IBA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TESK2 https://www.uniprot.org/uniprot/Q96S53 https://www.ncbi.nlm.nih.gov/omim/?term=604746 http://www.informatics.jax.org/searchtool/Search.do?query=TESK2&submit=Quick%0D%74ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TESK2 rs2298018 0.41893 0 0 1 0 0 intronic intronic intronic TESK2 TESK2 ENSG00000070759 Na Na Na Na Na Na Het;T>C 407;17|13 Het;T>C 257;11|10 Hom;T>C 544;0|18 N N - 1 45887288 45887288 T C snp intronic TESK2 Tesk2 ENSG00000070759 testis-specific kinase 2 chr1:45809555-45956872 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] GO:0006468;protein phosphorylation;ISS|GO:0007283;spermatogenesis;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035556;intracellular signal transduction;IBA|GO:0048041;focal adhesion assembly;ISS|GO:0006468;protein phosphorylation;ISS|GO:0007283;spermatogenesis;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;ISS|GO:0035556;intracellular signal transduction;IBA|GO:0048041;focal adhesion assembly;ISS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IBA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004871;signal transducer activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TESK2 https://www.uniprot.org/uniprot/Q96S53 https://www.ncbi.nlm.nih.gov/omim/?term=604746 http://www.informatics.jax.org/searchtool/Search.do?query=TESK2&submit=Quick%0D%74ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TESK2 rs3790582 0.287939 0 0 1 0 0 intronic intronic intronic TESK2 TESK2 ENSG00000070759 Na Na Na Na Na Na Het;T>C 128;7|5 Het;T>C 315;3|10 Hom;T>C 220;0|7 N N - 1 45961327 45961339 CTTTTTTTTTTTT C indel ncRNA_intronic CCDC163P rs750707505 0 0 0 1 0 0 ncRNA_intronic intronic intronic CCDC163P CCDC163P ENSG00000236624 Na Na Na Na Na Na Het;-TTTTTTTTTTTT 111;2|5 Ref Hom;-TTTTTTTTTTTT 145;0|4 N N - 1 45962409 45962409 T C snp ncRNA_intronic CCDC163P rs11211124 0.267971 0 0 1 0 0 ncRNA_intronic intronic intronic CCDC163P CCDC163P ENSG00000236624 Na Na Na Na Na Na Het;T>C 637;12|18 Het;T>C 335;11|10 Hom;T>C 561;0|15 N N - 1 45975166 45975166 A G snp UTR3 *279A>G MMACHC Mmachc ENSG00000132763 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria chr1:45965725-45976739 The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] Homocystinuria|Vitamin B 12 Deficiency; Acquired Immunodeficiency Syndrome|Disease Progression; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors|Hyperhomocysteinemia Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC GO:0006749;glutathione metabolic process;IDA|GO:0009235;cobalamin metabolic process;TAS|GO:0009236;cobalamin biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070988;demethylation;IDA GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;TAS|GO:0031419;cobalamin binding;IEA|GO:0032451;demethylase activity;IDA|GO:0033787;cyanocobalamin reductase (cyanide-eliminating) activity;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043295;glutathione binding;IDA|GO:0071949;FAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MMACHC https://www.uniprot.org/uniprot/Q9Y4U1 https://hpo.jax.org/app/browse/search?q=MMACHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609831 http://www.informatics.jax.org/searchtool/Search.do?query=MMACHC&submit=Quick%0D%6737ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMACHC rs9729395 0.263379 0 0 1 0 0 UTR3 UTR3 UTR3 MMACHC(NM_015506:c.*279A>G) MMACHC(uc009vxv.3:c.*279A>G) ENSG00000132763(ENST00000401061:c.*279A>G) Na Na Na Na Na Na Het;A>G 73;5|3 Het;A>G 205;3|7 Hom;A>G 394;0|10 N N - 1 45984852 45984855 ATGT A indel intronic PRDX1 Prdx1 ENSG00000117450 peroxiredoxin 1 chr1:45976708-45988719 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011] Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length Mutant mice exhibit defects in antioxidant defense that manifest as hemolytic anemia and malignancies. The phenotype is more severe in homozygous mutant mice which die prematurely. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0000302;response to reactive oxygen species;IEA|GO:0001501;skeletal system development;TAS|GO:0001895;retina homeostasis;IEP|GO:0006979;response to oxidative stress;IEA|GO:0008283;cell proliferation;TAS|GO:0019430;removal of superoxide radicals;IEA|GO:0030101;natural killer cell activation;IDA|GO:0032872;regulation of stress-activated MAPK cascade;IEA|GO:0034101;erythrocyte homeostasis;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042267;natural killer cell mediated cytotoxicity;IEA|GO:0042345;regulation of NF-kappaB import into nucleus;IEA|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0005615;extracellular space;IDA|GO:0005623;cell;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0031012;extracellular matrix;IDA|GO:0042470;melanosome;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0004601;peroxidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008379;thioredoxin peroxidase activity;IDA|GO:0016209;antioxidant activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051920;peroxiredoxin activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDX1 https://www.uniprot.org/uniprot/Q06830 https://hpo.jax.org/app/browse/search?q=PRDX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176763 http://www.informatics.jax.org/searchtool/Search.do?query=PRDX1&submit=Quick%0D%4878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDX1 rs3082814 0.263379 0 0 1 0 0 intronic intronic intronic PRDX1 PRDX1 ENSG00000117450 Na Na Na Na Na Na Het;-TGT 533;6|14 Het;-TGT 356;9|10 Hom;-TGT 908;0|21 N N - 1 47124204 47124204 C CA indel intronic ATPAF1 Atpaf1 ENSG00000123472 ATP synthase mitochondrial F1 complex assembly factor 1 chr1:47098409-47139539 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression GO:0006461;protein complex assembly;IEA|GO:0033615;mitochondrial proton-transporting ATP synthase complex assembly;IBA GO:0005739;mitochondrion;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATPAF1 https://www.uniprot.org/uniprot/Q5TC12 https://www.ncbi.nlm.nih.gov/omim/?term=608917 http://www.informatics.jax.org/searchtool/Search.do?query=ATPAF1&submit=Quick%0D%5531ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATPAF1 rs34308534 0.538538 0 0 1 0 0 intronic intronic intronic ATPAF1 ATPAF1 ENSG00000123472 Na Na Na Na Na Na Het;+A 108;9|6 Ref Hom;+A 122;0|5 N N - 1 47207997 47207997 T C snp upstream AL593856.1 rs1971519 0.532149 0 0 1 0 0 intergenic intergenic upstream EFCAB14(dist=23261),CYP4B1(dist=56673) EFCAB14(dist=23261),CYP4B1(dist=56673) ENSG00000236476 Na Na Na Na Na Na Het;T>C 80;1|3 Ref Hom;T>C 114;0|5 N N - 1 47495605 47495605 A G snp intronic CYP4X1 Cyp4x1 ENSG00000186377 cytochrome P450 family 4 subfamily X member 1 chr1:47427036-47516423 This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4X1 https://www.ncbi.nlm.nih.gov/omim/?term=614999 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4X1&submit=Quick%0D%15628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4X1 rs17102977 0.126198 0 0 1 0 0 intronic intronic intronic CYP4X1 CYP4X1 ENSG00000186377 Na Na Na Na Na Na Het;A>G 461;15|18 Het;A>G 373;23|19 Hom;A>G 1192;0|42 N N - 1 47497037 47497037 G A snp intronic CYP4X1 Cyp4x1 ENSG00000186377 cytochrome P450 family 4 subfamily X member 1 chr1:47427036-47516423 This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4X1 https://www.ncbi.nlm.nih.gov/omim/?term=614999 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4X1&submit=Quick%0D%15628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4X1 rs11211420 0.116414 0.0777 0 1 0 0 intronic intronic intronic CYP4X1 CYP4X1 ENSG00000186377 Na Na Na Na Na Na Het;G>A 250;9|10 Het;G>A 155;13|7 Hom;G>A 547;0|19 N N - 1 47515563 47515563 G GA indel intronic CYP4X1 Cyp4x1 ENSG00000186377 cytochrome P450 family 4 subfamily X member 1 chr1:47427036-47516423 This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4X1 https://www.ncbi.nlm.nih.gov/omim/?term=614999 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4X1&submit=Quick%0D%15628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4X1 rs11448645 0.580272 0 0 1 0 0 intronic intronic intronic CYP4X1 CYP4X1 ENSG00000186377 Na Na Na Na Na Na Het;+A 318;5|14 Het;+A 114;4|6 Hom;+A 142;0|6 N N - 1 47515596 47515596 A C snp intronic CYP4X1 Cyp4x1 ENSG00000186377 cytochrome P450 family 4 subfamily X member 1 chr1:47427036-47516423 This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4X1 https://www.ncbi.nlm.nih.gov/omim/?term=614999 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4X1&submit=Quick%0D%15628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4X1 rs1393659 0.583466 0 0 1 0 0 intronic intronic intronic CYP4X1 CYP4X1 ENSG00000186377 Na Na Na Na Na Na Het;A>C 1062;10|33 Het;A>C 500;8|17 Hom;A>C 819;0|22 N N - 1 47534107 47534107 A T snp intronic CYP4Z1 ENSG00000186160 cytochrome P450 family 4 subfamily Z member 1 chr1:47533160-47583991 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1 rs2055500 0.583466 0 0 1 0 0 intronic intronic intronic CYP4Z1 CYP4Z1 ENSG00000186160 Na Na Na Na Na Na Het;A>T 42;2|2 Het;A>T 159;2|5 Hom;A>T 181;0|5 N N - 1 47547972 47547972 C G snp intronic CYP4Z1 ENSG00000186160 cytochrome P450 family 4 subfamily Z member 1 chr1:47533160-47583991 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1 rs1502924 0.102436 0.0640 0.0927 1 0 0 intronic intronic intronic CYP4Z1 CYP4Z1 ENSG00000186160 Na Na Na Na Na Na Het;C>G 602;26|29 Het;C>G 988;41|42 Hom;C>G 1651;3|66 N N - 1 47550145 47550145 C T snp intronic CYP4Z1 ENSG00000186160 cytochrome P450 family 4 subfamily Z member 1 chr1:47533160-47583991 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1 rs113098733 0.206869 0 0 1 0 0 intronic intronic intronic CYP4Z1 CYP4Z1 ENSG00000186160 Na Na Na Na Na Na Het;C>T 62;5|3 Ref Hom;C>T 128;0|5 N N - 1 47550246 47550246 G GA indel intronic CYP4Z1 ENSG00000186160 cytochrome P450 family 4 subfamily Z member 1 chr1:47533160-47583991 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1 rs201981953 0.569289 0.2662 0.3145 1 0 0 intronic intronic intronic CYP4Z1 CYP4Z1 ENSG00000186160 Na Na Na Na Na Na Het;+A 290;47|16 Het;+A 414;60|22 Hom;+A 959;0|29 N N - 1 47560444 47560444 C T snp intronic CYP4Z1 ENSG00000186160 cytochrome P450 family 4 subfamily Z member 1 chr1:47533160-47583991 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4Z1 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4Z1&submit=Quick%0D%15583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4Z1 rs7549836 0.102236 0 0 1 0 0 intronic intronic intronic CYP4Z1 CYP4Z1 ENSG00000186160 Na Na Na Na Na Na Het;C>T 295;21|13 Het;C>T 284;13|10 Hom;C>T 930;0|28 N N - 1 47571943 47571946 CTTT C indel ncRNA_intronic CYP4A22-AS1 rs149137568 0.521765 0 0.3612 1 0 0 intronic intronic ncRNA_intronic CYP4Z1 CYP4Z1 ENSG00000225506 Na Na Na Na Na Na Het;-TTT 930;38|33 Ref Hom;-TTT 2173;0|60 N N - 1 47572046 47572046 C T snp ncRNA_intronic CYP4A22-AS1 rs4926805 0.592851 0 0 1 0 0 intronic intronic ncRNA_intronic CYP4Z1 CYP4Z1 ENSG00000225506 Na Na Na Na Na Na Het;C>T 139;5|5 Ref Hom;C>T 205;0|7 N N - 1 47607785 47607785 G A snp nonsynonymous SNV G388A G130S aliphatic,neutral polar,hydrophilic,neutral CYP4A22 Cyp4a12b ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 chr1:47603107-47615413 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22 https://www.ncbi.nlm.nih.gov/omim/?term=615341 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22 rs2056900 0.336262 0.2105 0.2694 0.62 8 13 exonic exonic exonic CYP4A22 CYP4A22 ENSG00000162365 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CYP4A22:NM_001010969:exon4:c.G388A:p.G130S, CYP4A22:uc009vyp.3:exon4:c.G388A:p.G130S,CYP4A22:uc001cqv.1:exon4:c.G388A:p.G130S,CYP4A22:uc009vyo.3:exon4:c.G388A:p.G130S, ENSG00000162365:ENST00000294337:exon4:c.G388A:p.G130S,ENSG00000162365:ENST00000371890:exon4:c.G388A:p.G130S,ENSG00000162365:ENST00000371891:exon4:c.G388A:p.G130S, Het;G>A 1294;37|37 Het;G>A 615;43|28 Hom;G>A 1353;0|47 N N - 1 47608983 47608983 G T snp nonsynonymous SNV G553T V185F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral CYP4A22 Cyp4a12b ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 chr1:47603107-47615413 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22 https://www.ncbi.nlm.nih.gov/omim/?term=615341 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22 rs4926581 0.335663 0.2105 0.2679 0.38 5 13 exonic exonic exonic CYP4A22 CYP4A22 ENSG00000162365 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CYP4A22:NM_001010969:exon5:c.G553T:p.V185F, CYP4A22:uc009vyp.3:exon5:c.G553T:p.V185F,CYP4A22:uc001cqv.1:exon5:c.G553T:p.V185F,CYP4A22:uc009vyo.3:exon5:c.G553T:p.V185F, ENSG00000162365:ENST00000294337:exon5:c.G553T:p.V185F,ENSG00000162365:ENST00000371890:exon5:c.G553T:p.V185F,ENSG00000162365:ENST00000371891:exon5:c.G553T:p.V185F, Het;G>T 2232;106|100 Het;G>T 1965;80|88 Hom;G>T 4582;2|175 N N - 1 47610065 47610065 A C snp nonsynonymous SNV A672C E224D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CYP4A22 Cyp4a12b ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 chr1:47603107-47615413 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22 https://www.ncbi.nlm.nih.gov/omim/?term=615341 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22 rs6661132 0.141773 0.0667 0.1153 0.23 3 13 exonic exonic exonic CYP4A22 CYP4A22 ENSG00000162365 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CYP4A22:NM_001010969:exon7:c.A827C:p.K276T, CYP4A22:uc009vyp.3:exon6:c.A672C:p.E224D,CYP4A22:uc001cqv.1:exon7:c.A827C:p.K276T,CYP4A22:uc009vyo.3:exon7:c.A827C:p.K276T, ENSG00000162365:ENST00000294337:exon7:c.A827C:p.K276T,ENSG00000162365:ENST00000371890:exon6:c.A672C:p.E224D,ENSG00000162365:ENST00000371891:exon7:c.A827C:p.K276T, Het;A>C 1159;55|52 Het;A>C 1223;53|51 Hom;A>C 2185;2|77 N N - 1 47614434 47614434 C T snp nonsynonymous SNV C1525T L509F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral CYP4A22 Cyp4a12b ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 chr1:47603107-47615413 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22 https://www.ncbi.nlm.nih.gov/omim/?term=615341 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22 rs4926600 0.152556 0.076 0.1224 0.31 4 13 exonic exonic exonic CYP4A22 CYP4A22 ENSG00000162365 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CYP4A22:NM_001010969:exon12:c.C1525T:p.L509F, CYP4A22:uc001cqv.1:exon12:c.C1525T:p.L509F, ENSG00000162365:ENST00000371890:exon10:c.C1231T:p.L411F,ENSG00000162365:ENST00000371891:exon12:c.C1525T:p.L509F, Het;C>T 3273;155|150 Het;C>T 2696;126|124 Hom;C>T 6147;2|229 N N - 1 47644902 47644902 T C snp ncRNA_exonic CYP4A22-AS1 rs2494248 0.560903 0 0 1 0 0 upstream upstream ncRNA_exonic LINC00853 LINC00853 ENSG00000225506 Na Na Na Na Na Na Het;T>C 414;14|17 Het;T>C 96;13|6 Hom;T>C 459;0|18 N N - 1 48459907 48459907 C T snp synonymous SNV G465A A155A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRABD2B Trabd2b ENSG00000269113 TraB domain containing 2B chr1:48226200-48462567 Brain Mapping GO:0006508;proteolysis;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:1904808;positive regulation of protein oxidation;IDA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031301;integral component of organelle membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017147;Wnt-protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRABD2B https://www.ncbi.nlm.nih.gov/omim/?term=614913 http://www.informatics.jax.org/searchtool/Search.do?query=TRABD2B&submit=Quick%0D%20746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRABD2B rs3814006 0.165735 0 0.3003 1 0 0 exonic exonic exonic TRABD2B TRABD2B ENSG00000269113 synonymous SNV synonymous SNV synonymous SNV TRABD2B:NM_001194986:exon2:c.G465A:p.A155A, TRABD2B:uc021ong.1:exon2:c.G465A:p.A155A, ENSG00000269113:ENST00000606738:exon2:c.G465A:p.A155A, Het;C>T 2544;103|110 Het;C>T 2901;109|126 Hom;C>T 5656;2|206 N N - 1 49052933 49052933 T C snp intronic AGBL4 Agbl4 ENSG00000186094 ATP/GTP binding protein like 4 chr1:48998527-50489585 Tobacco Use Disorder; Celiac Disease| Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035608;protein deglutamylation;IEA|GO:0035609;C-terminal protein deglutamylation;IEA|GO:0035610;protein side chain deglutamylation;IEA|GO:0051607;defense response to virus;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL4 https://www.ncbi.nlm.nih.gov/omim/?term=616476 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL4&submit=Quick%0D%15565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL4 rs2803277 0.34365 0 0 1 0 0 intronic intronic intronic AGBL4 AGBL4 ENSG00000186094 Na Na Na Na Na Na Het;T>C 810;26|33 Het;T>C 455;34|22 Hom;T>C 1319;4|52 N N - 1 49056695 49056695 T C snp intronic AGBL4 Agbl4 ENSG00000186094 ATP/GTP binding protein like 4 chr1:48998527-50489585 Tobacco Use Disorder; Celiac Disease| Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035608;protein deglutamylation;IEA|GO:0035609;C-terminal protein deglutamylation;IEA|GO:0035610;protein side chain deglutamylation;IEA|GO:0051607;defense response to virus;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL4 https://www.ncbi.nlm.nih.gov/omim/?term=616476 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL4&submit=Quick%0D%15565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL4 rs7543402 0.341653 0.3845 0.4057 1 0 0 intronic intronic intronic AGBL4 AGBL4 ENSG00000186094 Na Na Na Na Na Na Het;T>C 299;19|14 Het;T>C 238;22|14 Hom;T>C 950;0|37 N N - 1 49224584 49224584 G T snp synonymous SNV C733A R245R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) BEND5 Bend5 ENSG00000162373 BEN domain containing 5 chr1:49193195-49242641 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005794;Golgi apparatus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BEND5 http://www.informatics.jax.org/searchtool/Search.do?query=BEND5&submit=Quick%0D%10682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BEND5 rs1128934 0.689896 0.8061 0.8008 1 0 0 exonic exonic exonic BEND5 BEND5 ENSG00000162373 synonymous SNV synonymous SNV synonymous SNV BEND5:NM_024603:exon3:c.C733A:p.R245R,BEND5:NM_001302082:exon3:c.C226A:p.R76R, BEND5:uc001crw.4:exon3:c.C226A:p.R76R,BEND5:uc001crx.4:exon3:c.C733A:p.R245R, ENSG00000162373:ENST00000371833:exon3:c.C733A:p.R245R, Het;G>T 539;35|21 Het;G>T 961;20|41 Hom;G>T 1982;0|70 N N - 1 49332724 49332724 A C snp intronic AGBL4 Agbl4 ENSG00000186094 ATP/GTP binding protein like 4 chr1:48998527-50489585 Tobacco Use Disorder; Celiac Disease| Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035608;protein deglutamylation;IEA|GO:0035609;C-terminal protein deglutamylation;IEA|GO:0035610;protein side chain deglutamylation;IEA|GO:0051607;defense response to virus;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL4 https://www.ncbi.nlm.nih.gov/omim/?term=616476 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL4&submit=Quick%0D%15565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL4 rs6703833 0.344848 0 0 1 0 0 intronic intronic intronic AGBL4 AGBL4 ENSG00000186094 Na Na Na Na Na Na Het;A>C 216;8|7 Het;A>C 145;7|5 Hom;A>C 486;0|13 N N - 1 49332969 49332969 A G snp intronic AGBL4 Agbl4 ENSG00000186094 ATP/GTP binding protein like 4 chr1:48998527-50489585 Tobacco Use Disorder; Celiac Disease| Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035608;protein deglutamylation;IEA|GO:0035609;C-terminal protein deglutamylation;IEA|GO:0035610;protein side chain deglutamylation;IEA|GO:0051607;defense response to virus;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL4 https://www.ncbi.nlm.nih.gov/omim/?term=616476 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL4&submit=Quick%0D%15565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL4 rs61785986 0.34365 0.5085 0 1 0 0 intronic intronic intronic AGBL4 AGBL4 ENSG00000186094 Na Na Na Na Na Na Het;A>G 739;23|31 Het;A>G 735;19|28 Hom;A>G 1525;0|51 N N - 1 49364791 49364791 A T snp intronic AGBL4 Agbl4 ENSG00000186094 ATP/GTP binding protein like 4 chr1:48998527-50489585 Tobacco Use Disorder; Celiac Disease| Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035608;protein deglutamylation;IEA|GO:0035609;C-terminal protein deglutamylation;IEA|GO:0035610;protein side chain deglutamylation;IEA|GO:0051607;defense response to virus;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0015631;tubulin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL4 https://www.ncbi.nlm.nih.gov/omim/?term=616476 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL4&submit=Quick%0D%15565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL4 rs7546573 0.340455 0 0 1 0 0 intronic intronic intronic AGBL4 AGBL4 ENSG00000186094 Na Na Na Na Na Na Het;A>T 32;4|4 Ref Hom;A>T 120;0|6 N N - 1 50884230 50884230 G C snp UTR3 *107C>G DMRTA2 Dmrta2 ENSG00000142700 DMRT like family A2 chr1:50883222-50889172 Mice homozygous for a targeted allele exhibit telencephalon hypoplasia, reduced cerebral cortex area, absent hippocampus, small olfactory bulb, disorganized medial cortex and decreased cortical neurons due to reduced proliferation of neuronal precursors. GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007420;brain development;IBA|GO:0021796;cerebral cortex regionalization;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0048665;neuron fate specification;IEA|GO:0071542;dopaminergic neuron differentiation;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DMRTA2 https://www.uniprot.org/uniprot/Q96SC8 https://www.ncbi.nlm.nih.gov/omim/?term=614804 http://www.informatics.jax.org/searchtool/Search.do?query=DMRTA2&submit=Quick%0D%8328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DMRTA2 rs1296714 0.891174 0 0 1 0 0 UTR3 UTR3 UTR3 DMRTA2(NM_032110:c.*107C>G) DMRTA2(uc010ona.2:c.*107C>G,uc010onb.2:c.*107C>G) ENSG00000142700(ENST00000404795:c.*107C>G,ENST00000418121:c.*107C>G) Na Na Na Na Na Na Het;G>C 144;2|5 Ref Hom;G>C 130;0|4 N N - 1 53099517 53099517 A G snp intronic FAM159A Fam159a ENSG00000182183 family with sequence similarity 159 member A chr1:53099016-53135355 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM159A http://www.informatics.jax.org/searchtool/Search.do?query=FAM159A&submit=Quick%0D%14739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM159A rs61780593 0.261581 0 0 1 0 0 intronic intronic intronic FAM159A FAM159A ENSG00000182183 Na Na Na Na Na Na Het;A>G 216;8|7 Het;A>G 49;6|3 Hom;A>G 85;0|3 N N - 1 53535478 53535478 G A snp nonsynonymous SNV G38A R13H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) PODN Podn ENSG00000174348 podocan chr1:53527854-53551174 The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016] Type 2 Diabetes| edema | rosiglitazone GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PODN https://www.ncbi.nlm.nih.gov/omim/?term=608661 http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN rs1288386 0.357428 0.3408 0.5010 0.09 1 11 exonic exonic exonic PODN PODN ENSG00000174348 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PODN:NM_001199080:exon4:c.G38A:p.R13H,PODN:NM_001199082:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_153703:exon2:c.G95A:p.R32H, PODN:uc001cuw.3:exon4:c.G38A:p.R13H,PODN:uc010ons.2:exon2:c.G95A:p.R32H,PODN:uc010onr.2:exon3:c.G38A:p.R13H,PODN:uc001cuv.3:exon2:c.G95A:p.R32H, ENSG00000174348:ENST00000371500:exon4:c.G38A:p.R13H,ENSG00000174348:ENST00000395871:exon2:c.G95A:p.R32H,ENSG00000174348:ENST00000312553:exon2:c.G95A:p.R32H, Het;G>A 826;24|33 Het;G>A 725;24|31 Hom;G>A 1247;2|48 N N - 1 53537266 53537266 G A snp synonymous SNV G459A T153T polar,hydrophilic,neutral polar,hydrophilic,neutral PODN Podn ENSG00000174348 podocan chr1:53527854-53551174 The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016] Type 2 Diabetes| edema | rosiglitazone GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PODN https://www.ncbi.nlm.nih.gov/omim/?term=608661 http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN rs1769316 0.55611 0.4872 0.5116 1 0 0 exonic exonic exonic PODN PODN ENSG00000174348 synonymous SNV synonymous SNV synonymous SNV PODN:NM_001199080:exon5:c.G459A:p.T153T,PODN:NM_001199081:exon4:c.G459A:p.T153T,PODN:NM_153703:exon3:c.G516A:p.T172T, PODN:uc001cuw.3:exon5:c.G459A:p.T153T,PODN:uc010onr.2:exon4:c.G459A:p.T153T,PODN:uc001cuv.3:exon3:c.G516A:p.T172T, ENSG00000174348:ENST00000371500:exon5:c.G459A:p.T153T,ENSG00000174348:ENST00000312553:exon3:c.G516A:p.T172T, Het;G>A 2130;107|107 Het;G>A 1776;136|94 Hom;G>A 5623;0|218 N N - 1 54755091 54755091 C A snp intronic SSBP3 Ssbp3 ENSG00000157216 single stranded DNA binding protein 3 chr1:54691105-54879152 Triglycerides; Tobacco Use Disorder; Stroke Embryos homozygous for a gene trap mutation that deletes the proline-rich domain show a severe anterior truncation and a lethal headless phenotype (loss of fore- and midbrain). Embryos homozygous for a gene trap mutation which retains most of the proline-rich domain show normal head development. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006461;protein complex assembly;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0021501;prechordal plate formation;IEA|GO:0021547;midbrain-hindbrain boundary initiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060322;head development;IEA|GO:0060323;head morphogenesis;IEA|GO:2000744;positive regulation of anterior head development;IEA GO:0005634;nucleus;IEA|GO:0043234;protein complex;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SSBP3 https://www.ncbi.nlm.nih.gov/omim/?term=607390 http://www.informatics.jax.org/searchtool/Search.do?query=SSBP3&submit=Quick%0D%10071ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSBP3 rs6697414 0.416334 0 0 1 0 0 intronic intronic intronic SSBP3 SSBP3 ENSG00000157216 Na Na Na Na Na Na Het;C>A 43;3|3 Ref Hom;C>A 69;0|4 N N - 1 55080635 55080635 G A snp intronic ACOT11 Acot11 ENSG00000162390 acyl-CoA thioesterase 11 chr1:55007930-55104865 This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Tobacco Use Disorder; Coronary Artery Disease; Waist Circumference; smoking cessation; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null mutation display resistance to high fat diet induced obesity, inflammation and hepatic steatosis, increased energy expenditure, increased brown adipose tissue amount, and increased food intake. Mitochondrial Fatty Acid Beta-Oxidation GO:0006631;fatty acid metabolic process;NAS|GO:0006637;acyl-CoA metabolic process;TAS|GO:0009266;response to temperature stimulus;ISS|GO:0009409;response to cold;ISS|GO:0035556;intracellular signal transduction;NAS GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0008289;lipid binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOT11 https://www.ncbi.nlm.nih.gov/omim/?term=606803 http://www.informatics.jax.org/searchtool/Search.do?query=ACOT11&submit=Quick%0D%10689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT11 rs1655525 0 0 0 1 0 0 intronic intronic intronic ACOT11,FAM151A ACOT11,FAM151A ENSG00000162390,ENSG00000162391 Na Na Na Na Na Na Het;G>A 329;7|8 Het;G>A 197;9|6 Hom;G>A 467;0|11 N N - 1 55682350 55682350 A C snp ncRNA_exonic LOC100507634 rs67075622 0.131989 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC100507634 LOC100507634 ENSG00000162402(dist=1564),ENSG00000231090(dist=1184) Na Na Na Na Na Na Het;A>C 2009;99|94 Het;A>C 2157;81|95 Hom;A>C 5568;0|201 N N - 1 57395020 57395020 A G snp UTR3 *57T>C C8B C8b ENSG00000021852 complement C8 beta chain chr1:57394883-57431813 This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Meningeal Neoplasms|meningioma; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. Regulation of Complement cascade GO:0002376;immune system process;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/C8B https://www.uniprot.org/uniprot/P07358 https://hpo.jax.org/app/browse/search?q=C8B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120960 http://www.informatics.jax.org/searchtool/Search.do?query=C8B&submit=Quick%0D%669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C8B rs2795 0.367212 0 0 1 0 0 UTR3 UTR3 UTR3 C8B(NM_001278544:c.*57T>C,NM_001278543:c.*57T>C,NM_000066:c.*57T>C) C8B(uc001cyp.3:c.*57T>C,uc010oon.2:c.*57T>C,uc010ooo.2:c.*57T>C) ENSG00000021852(ENST00000371237:c.*57T>C,ENST00000543257:c.*57T>C) Na Na Na Na Na Na Het;A>G 526;64|26 Het;A>G 684;21|30 Hom;A>G 1558;1|57 N N - 1 57395421 57395421 C G snp intronic C8B C8b ENSG00000021852 complement C8 beta chain chr1:57394883-57431813 This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Meningeal Neoplasms|meningioma; Lymphoma, Non-Hodgkin; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. Regulation of Complement cascade GO:0002376;immune system process;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/C8B https://www.uniprot.org/uniprot/P07358 https://hpo.jax.org/app/browse/search?q=C8B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120960 http://www.informatics.jax.org/searchtool/Search.do?query=C8B&submit=Quick%0D%669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C8B rs653804 0.367812 0 0 1 0 0 intronic intronic intronic C8B C8B ENSG00000021852 Na Na Na Na Na Na Het;C>G 159;2|5 Ref Hom;C>G 235;0|7 N N - 1 5945202 5945202 G A snp intronic NPHP4 Nphp4 ENSG00000131697 nephrocystin 4 chr1:5922871-6052533 This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] kidney disease; QT interval; Tobacco Use Disorder Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia. Anchoring of the basal body to the plasma membrane GO:0007165;signal transduction;NAS|GO:0007632;visual behavior;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0030317;flagellated sperm motility;IEA|GO:0035329;hippo signaling;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1903348;positive regulation of bicellular tight junction assembly;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IC|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097470;ribbon synapse;IEA|GO:0097546;ciliary base;IEA|GO:0097730;non-motile cilium;IEA GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPHP4 https://www.uniprot.org/uniprot/O75161 https://hpo.jax.org/app/browse/search?q=NPHP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607215 http://www.informatics.jax.org/searchtool/Search.do?query=NPHP4&submit=Quick%0D%6571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHP4 rs11584452 0.144169 0 0 1 0 0 intronic intronic intronic NPHP4 NPHP4 ENSG00000131697 Na Na Na Na Na Na Het;G>A 88;4|6 Ref Hom;G>A 56;0|4 N N - 1 60888482 60888482 G T snp intergenic C1orf87 Gm12695 ENSG00000162598 chromosome 1 open reading frame 87 chr1:60452941-60539442 Eosinophils; Triglycerides; Thyrotropin; Lipids; Leukocyte Count; Apolipoproteins C; C-Reactive Protein; Cholesterol; Lipoproteins, LDL; Phospholipids; Cholesterol, LDL; Coronary Artery Disease; Body Weight; Hip; Coronary Disease; Basophils; Stroke; Lipoproteins, VLDL; Body Mass Index; Bipolar Disorder; Arthritis, Rheumatoid; Diabetes Mellitus http://www.genecards.org/index.php?path=/Search/keyword/C1orf87 http://www.informatics.jax.org/searchtool/Search.do?query=C1orf87&submit=Quick%0D%10739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf87 rs10493287 0.43151 0 0 1 0 0 intergenic intergenic intergenic C1orf87(dist=349040),LOC101926964(dist=236821) C1orf87(dist=349040),AK097193(dist=236821) ENSG00000238242(dist=273131),ENSG00000226476(dist=117439) Na Na Na Na Na Na Het;G>T 71;2|3 Ref Hom;G>T 160;0|5 N N - 1 61921185 61921185 A AT indel UTR3 *193A>AT NFIA Nfia ENSG00000162599 nuclear factor I A chr1:61330931-61928465 This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Heart Function Tests; Natriuretic Peptide, Brain; Celiac Disease; Stroke; Celiac disease; Body Mass Index; Body Height; Body Weight; Tobacco Use Disorder; Echocardiography Homozygous null mice display perinatal lethality, hydrocephalus, agenesis of the corpus callosum and hippocampal commissure. Fertility is surviving homozygotes is compromised. A decrease in the number of heterozygous animals is associated with a maternal effect. RNA Polymerase III Abortive And Retractive Initiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006260;DNA replication;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0019079;viral genome replication;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0060074;synapse maturation;IEA|GO:0072189;ureter development;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0030054;cell junction;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008134;transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFIA https://hpo.jax.org/app/browse/search?q=NFIA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600727 http://www.informatics.jax.org/searchtool/Search.do?query=NFIA&submit=Quick%0D%10740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFIA rs11423561 0.491414 0 0 1 0 0 UTR3 UTR3 UTR3 NFIA(NM_001145511:c.*193A>AT,NM_001145512:c.*193A>AT,NM_005595:c.*134A>AT,NM_001134673:c.*193A>AT) NFIA(uc001czy.3:c.*193A>AT,uc010oos.2:c.*193A>AT,uc001czw.3:c.*193A>AT,uc001czv.3:c.*134A>AT,uc001czx.3:c.*193A>AT) ENSG00000162599(ENST00000371191:c.*193A>AT,ENST00000407417:c.*193A>AT,ENST00000371189:c.*193A>AT,ENST00000403491:c.*193A>AT,ENST00000371187:c.*134A>AT,ENST00000485903:c.*193A>AT,ENST00000371185:c.*193A>AT,ENST00000357977:c.*193A>AT,ENST00000493627:c.*193A>AT) Na Na Na Na Na Na Het;+T 77;6|6 Het;+T 92;4|7 Hom;+T 298;2|15 N N - 1 62257223 62257223 A G snp intronic INADL rs3790577 0.447284 0 0 1 0 0 intronic intronic intronic INADL INADL ENSG00000132849 Na Na Na Na Na Na Het;A>G 466;10|14 Het;A>G 226;4|7 Hom;A>G 414;0|11 N N - 1 62261168 62261168 A G snp nonsynonymous SNV A1198G I400V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral INADL rs7516332 0.434904 0.4031 0.4909 0.15 2 13 exonic exonic exonic INADL INADL ENSG00000132849 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV INADL:NM_176877:exon10:c.A1198G:p.I400V, INADL:uc001dab.3:exon10:c.A1198G:p.I400V,INADL:uc001dad.3:exon5:c.A289G:p.I97V,INADL:uc001daa.2:exon10:c.A1198G:p.I400V,INADL:uc009waf.1:exon10:c.A1198G:p.I400V, ENSG00000132849:ENST00000316485:exon10:c.A1198G:p.I400V,ENSG00000132849:ENST00000371158:exon10:c.A1198G:p.I400V, Het;A>G 584;31|30 Het;A>G 980;30|44 Hom;A>G 1483;0|55 N N - 1 62274312 62274312 G A snp intronic INADL rs3790576 0.437101 0 0 1 0 0 intronic intronic intronic INADL INADL ENSG00000132849 Na Na Na Na Na Na Het;G>A 220;3|8 Ref Hom;G>A 234;0|7 N N - 1 62380223 62380223 G T snp intronic INADL rs11585422 0.360423 0.4053 0.2882 1 0 0 intronic intronic intronic INADL INADL ENSG00000132849 Na Na Na Na Na Na Het;G>T 355;3|15 Het;G>T 318;12|16 Hom;G>T 1018;0|38 N N - 1 62593893 62593893 T C snp intronic INADL rs2481664 0.340855 0 0 1 0 0 intronic intronic intronic INADL INADL ENSG00000132849 Na Na Na Na Na Na Het;T>C 295;7|10 Het;T>C 175;11|7 Hom;T>C 306;0|10 N N - 1 62594593 62594593 C T snp synonymous SNV C5247T N1749N polar,hydrophilic,neutral polar,hydrophilic,neutral INADL rs2476194 0.330871 0.4261 0.4741 1 0 0 exonic exonic exonic INADL INADL ENSG00000132849 synonymous SNV synonymous SNV synonymous SNV INADL:NM_176877:exon41:c.C5247T:p.N1749N, INADL:uc001dab.3:exon41:c.C5247T:p.N1749N,INADL:uc009wag.3:exon15:c.C1599T:p.N533N, ENSG00000132849:ENST00000371158:exon41:c.C5247T:p.N1749N, Het;C>T 2251;110|105 Het;C>T 2501;97|111 Hom;C>T 5491;1|212 N N - 1 62672546 62672546 G A snp synonymous SNV G246A G82G aliphatic,neutral aliphatic,neutral L1TD1 L1td1 ENSG00000240563 LINE1 type transposase domain containing 1 chr1:62660503-62678000 Mice homozygous for a knock-out allele exhibit normal development and fertility. GO:0032197;transposition, RNA-mediated;IBA GO:0030529;intracellular ribonucleoprotein complex;IBA GO:0003727;single-stranded RNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/L1TD1 http://www.informatics.jax.org/searchtool/Search.do?query=L1TD1&submit=Quick%0D%19625ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=L1TD1 rs2457829 0.880791 0.8841 0.8595 1 0 0 exonic exonic exonic L1TD1 L1TD1 ENSG00000240563 synonymous SNV synonymous SNV synonymous SNV L1TD1:NM_001164835:exon4:c.G246A:p.G82G,L1TD1:NM_019079:exon3:c.G246A:p.G82G, L1TD1:uc021ooc.1:exon4:c.G246A:p.G82G,L1TD1:uc001dae.4:exon3:c.G246A:p.G82G, ENSG00000240563:ENST00000498273:exon3:c.G246A:p.G82G, Het;G>A 1922;113|87 Het;G>A 1082;109|55 Hom;G>A 5369;0|189 N N - 1 63085483 63085483 T TA indel intronic DOCK7 Dock7 ENSG00000116641 dedicator of cytokinesis 7 chr1:62920399-63153969 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] triglycerides; Cholesterol; Triglycerides; Lipids; Cholesterol, LDL; LDL cholesterol; Celiac Disease|; Cholesterol, total; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, LDL; Metabolism; Tobacco Use Disorder Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot. Factors involved in megakaryocyte development and platelet production GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IMP|GO:0022027;interkinetic nuclear migration;ISS|GO:0030154;cell differentiation;IEA|GO:0031175;neuron projection development;IMP|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045200;establishment of neuroblast polarity;IMP|GO:0050767;regulation of neurogenesis;ISS|GO:0090630;activation of GTPase activity;IDA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IMP GO:0005622;intracellular;IEA|GO:0005925;focal adhesion;IDA|GO:0008180;COP9 signalosome;IDA|GO:0030424;axon;TAS|GO:0030426;growth cone;TAS|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;TAS|GO:0045178;basal part of cell;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DOCK7 https://www.uniprot.org/uniprot/Q96N67 https://hpo.jax.org/app/browse/search?q=DOCK7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615730 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK7&submit=Quick%0D%4758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK7 rs34571440 0 0 0 1 0 0 intronic intronic intronic DOCK7 DOCK7 ENSG00000116641 Na Na Na Na Na Na Het;+A 58;9|5 Het;+A 42;6|4 Hom;+A 163;0|8 N N - 1 63920515 63920515 C G snp intronic ITGB3BP Itgb3bp ENSG00000142856 integrin subunit beta 3 binding protein chr1:63906441-64059392 This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Tobacco Use Disorder Mitotic Prometaphase GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/ITGB3BP https://www.uniprot.org/uniprot/Q13352 https://www.ncbi.nlm.nih.gov/omim/?term=605494 http://www.informatics.jax.org/searchtool/Search.do?query=ITGB3BP&submit=Quick%0D%8337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGB3BP rs17319708 0.0872604 0.1658 0.1766 1 0 0 intronic intronic intronic ITGB3BP ITGB3BP ENSG00000142856 Na Na Na Na Na Na Het;C>G 172;1|5 Ref Hom;C>G 150;0|5 N N - 1 65129233 65129234 GA G indel intronic CACHD1 Cachd1 ENSG00000158966 cache domain containing 1 chr1:64936428-65158741 Iron; Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACHD1 http://www.informatics.jax.org/searchtool/Search.do?query=CACHD1&submit=Quick%0D%10273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACHD1 rs11289872 0.477236 0 0 1 0 0 intronic intronic intronic CACHD1 CACHD1 ENSG00000158966 Na Na Na Na Na Na Het;-A 39;4|5 Het;-A 85;2|7 Hom;-A 168;0|10 N N - 1 6610743 6610744 CT C indel intronic NOL9 Nol9 ENSG00000162408 nucleolar protein 9 chr1:6581407-6614595 Major pathway of rRNA processing in the nucleolus and cytosol GO:0000448;cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0000460;maturation of 5.8S rRNA;IMP|GO:0006364;rRNA processing;TAS|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0051731;polynucleotide 5'-hydroxyl-kinase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/NOL9 http://www.informatics.jax.org/searchtool/Search.do?query=NOL9&submit=Quick%0D%10696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOL9 Na 0 0 0 1 0 0 intronic intronic intronic NOL9 NOL9 ENSG00000162408 Na Na Na Na Na Na Het;-T 51;3|5 Ref Hom;-T 77;0|5 N N - 1 6631431 6631431 C T snp intronic TAS1R1 Tas1r1 ENSG00000173662 taste 1 receptor member 1 chr1:6615241-6639817 The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Bulimia; null; Basophils Homozygous mutant mice show diminished behavioral and nervous responses to umami tastants. Response to sweet tastants is unimpaired. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0050917;sensory perception of umami taste;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;IDA|GO:0046982;protein heterodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/TAS1R1 https://www.ncbi.nlm.nih.gov/omim/?term=606225 http://www.informatics.jax.org/searchtool/Search.do?query=TAS1R1&submit=Quick%0D%13404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS1R1 rs11587438 0.741414 0 0 1 0 0 intronic intronic intronic TAS1R1 TAS1R1 ENSG00000173662 Na Na Na Na Na Na Het;C>T 106;3|4 Ref Hom;C>T 210;0|7 N N - 1 67519333 67519333 C G snp intronic SLC35D1 Slc35d1 ENSG00000116704 solute carrier family 35 member D1 chr1:67465015-67519782 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009] Tobacco Use Disorder Mice homozygous for a null allele exhibit neonatal lethality and chondrodystrophy associated with impaired chondroitin sulfate biosynthesis. Transport of nucleotide sugars GO:0006065;UDP-glucuronate biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015781;pyrimidine nucleotide-sugar transport;IEA|GO:0015787;UDP-glucuronic acid transport;IEA|GO:0030206;chondroitin sulfate biosynthetic process;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0090481;pyrimidine nucleotide-sugar transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005461;UDP-glucuronic acid transmembrane transporter activity;TAS|GO:0015165;pyrimidine nucleotide-sugar transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35D1 https://www.uniprot.org/uniprot/Q9NTN3 https://hpo.jax.org/app/browse/search?q=SLC35D1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610804 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35D1&submit=Quick%0D%4774ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35D1 rs2251004 0.695088 0 0 1 0 0 intronic intronic intronic SLC35D1 SLC35D1 ENSG00000116704 Na Na Na Na Na Na Het;C>G 140;2|8 Ref Hom;C>G 232;0|8 N N - 1 73951515 73951515 C T snp intergenic LINC01360 rs9425120 0.635383 0 0 1 0 0 intergenic intergenic intergenic LINC01360(dist=146955),LRRIQ3(dist=540187) BC041341(dist=146955),LRRIQ3(dist=540187) ENSG00000233973(dist=130581),ENSG00000223479(dist=149384) Na Na Na Na Na Na Het;C>T 138;5|5 Ref Hom;C>T 205;0|6 N N - 1 74716515 74716516 CT C indel intronic FPGT-TNNI3K ENSG00000259030 FPGT-TNNI3K readthrough chr1:74663919-75009666 This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010] GO:0002027;regulation of heart rate;IBA|GO:0006468;protein phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:1903779;regulation of cardiac conduction;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA GO:0004672;protein kinase activity;IBA|GO:0004871;signal transducer activity;IBA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FPGT-TNNI3K http://www.informatics.jax.org/searchtool/Search.do?query=FPGT-TNNI3K&submit=Quick%0D%20317ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FPGT-TNNI3K rs543878273 0.0299521 0 0 1 0 0 intronic intronic intronic FPGT-TNNI3K,TNNI3K FPGT-TNNI3K,TNNI3K ENSG00000116783,ENSG00000259030 Na Na Na Na Na Na Het;-T 149;4|5 Het;-T 449;3|12 Hom;-T 351;0|11 N N - 1 75679569 75679569 C CT indel intronic SLC44A5 Slc44a5 ENSG00000137968 solute carrier family 44 member 5 chr1:75667816-76076801 Cardiovascular Diseases; Body Mass Index; Tobacco Use Disorder; Alzheimer Disease Transport of bile salts and organic acids, metal ions and amine compounds GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0015871;choline transport;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015220;choline transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC44A5 https://www.uniprot.org/uniprot/Q8NCS7 http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A5&submit=Quick%0D%7643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A5 rs3831898 0.11242 0.1267 0.1111 1 0 0 intronic intronic intronic SLC44A5 SLC44A5 ENSG00000137968 Na Na Na Na Na Na Het;+T 437;21|24 Het;+T 987;7|46 Hom;+T 1519;3|61 N N - 1 83501999 83501999 A G snp ncRNA_intronic LINC01362 rs2105170 0.128195 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC01361(dist=50108),LOC101927587(dist=539472) U80773(dist=50108),BC043544(dist=409738) ENSG00000230817 Na Na Na Na Na Na Het;A>G 195;21|10 Het;A>G 240;4|10 Hom;A>G 410;0|15 N N - 1 839858 839956 CGCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGTGGCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGTG C indel upstream AL645608.7 Na 0 0 0 1 0 0 intergenic intergenic upstream FAM41C(dist=27676),LOC100130417(dist=12242) FAM41C(dist=27676),AK056486(dist=6859) ENSG00000272438 Na Na Na Na Na Na Het;-GCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGTGGCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGTG 151;2|5 Ref Hom;-GCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGTGGCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGCGGCCGCCTCCTCCTCCGAACGTG 297;1|9 N N - 1 84094411 84094411 G A snp ncRNA_intronic BC036594 rs12563303 0.49381 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927587 BC036594 ENSG00000233008 Na Na Na Na Na Na Het;G>A 488;17|22 Het;G>A 169;21|12 Hom;G>A 870;2|33 N N - 1 84641304 84641304 A C snp intronic PRKACB Prkacb ENSG00000142875 protein kinase cAMP-activated catalytic subunit beta chr1:84543745-84704181 The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014] Alzheimer's disease ; Monocytes; Cholesterol; Cholesterol, HDL; Uric Acid Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation. Factors involved in megakaryocyte development and platelet production GO:0001843;neural tube closure;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0003091;renal water homeostasis;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007165;signal transduction;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007596;blood coagulation;TAS|GO:0016310;phosphorylation;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0051447;negative regulation of meiotic cell cycle;IEA|GO:0070613;regulation of protein processing;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0097338;response to clozapine;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005952;cAMP-dependent protein kinase complex;TAS|GO:0016020;membrane;IEA|GO:0045171;intercellular bridge;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:0097546;ciliary base;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004691;cAMP-dependent protein kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PRKACB https://www.uniprot.org/uniprot/P22694 https://www.ncbi.nlm.nih.gov/omim/?term=176892 http://www.informatics.jax.org/searchtool/Search.do?query=PRKACB&submit=Quick%0D%8341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKACB rs2812001 0.203474 0 0 1 0 0 intronic intronic intronic PRKACB PRKACB ENSG00000142875 Na Na Na Na Na Na Het;A>C 120;2|4 Het;A>C 79;3|3 Hom;A>C 418;0|12 N N - 1 84689790 84689790 C T snp intronic PRKACB Prkacb ENSG00000142875 protein kinase cAMP-activated catalytic subunit beta chr1:84543745-84704181 The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014] Alzheimer's disease ; Monocytes; Cholesterol; Cholesterol, HDL; Uric Acid Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation. Factors involved in megakaryocyte development and platelet production GO:0001843;neural tube closure;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0003091;renal water homeostasis;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007165;signal transduction;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007596;blood coagulation;TAS|GO:0016310;phosphorylation;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0051447;negative regulation of meiotic cell cycle;IEA|GO:0070613;regulation of protein processing;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0097338;response to clozapine;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005952;cAMP-dependent protein kinase complex;TAS|GO:0016020;membrane;IEA|GO:0045171;intercellular bridge;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA|GO:0097546;ciliary base;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004691;cAMP-dependent protein kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PRKACB https://www.uniprot.org/uniprot/P22694 https://www.ncbi.nlm.nih.gov/omim/?term=176892 http://www.informatics.jax.org/searchtool/Search.do?query=PRKACB&submit=Quick%0D%8341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKACB rs12039822 0.184904 0 0 1 0 0 intronic intronic intronic PRKACB PRKACB ENSG00000142875 Na Na Na Na Na Na Het;C>T 53;2|4 Ref Hom;C>T 197;0|8 N N - 1 8616404 8616404 C A snp intronic RERE Rere ENSG00000142599 arginine-glutamic acid dipeptide repeats chr1:8412457-8877702 This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Osteoporosis; Tobacco Use Disorder; Vitiligo; Schizophrenia; Optic Disk; Autoimmune Diseases|melanoma|Vitiligo Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007275;multicellular organism development;IEA|GO:0021549;cerebellum development;IEA|GO:0021691;cerebellar Purkinje cell layer maturation;IEA|GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0021942;radial glia guided migration of Purkinje cell;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048755;branching morphogenesis of a nerve;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0000118;histone deacetylase complex;IEA|GO:0005634;nucleus;TAS GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0001106;RNA polymerase II transcription corepressor activity;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008267;poly-glutamine tract binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RERE https://www.uniprot.org/uniprot/Q9P2R6 https://hpo.jax.org/app/browse/search?q=RERE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605226 http://www.informatics.jax.org/searchtool/Search.do?query=RERE&submit=Quick%0D%8305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RERE rs12122737 0.180711 0 0 1 0 0 intronic intronic intronic RERE RERE ENSG00000142599 Na Na Na Na Na Na Het;C>A 177;5|6 Ref Hom;C>A 133;0|5 N N - 1 86252025 86252025 A G snp intronic COL24A1 Col24a1 ENSG00000171502 collagen type XXIV alpha 1 chain chr1:86194916-86622626 Cholesterol, LDL; Platelet Count; Hip; Osteoporosis; Tobacco Use Disorder; Forced Expiratory Volume; Type 2 Diabetes| edema | rosiglitazone Collagen chain trimerization GO:0002244;hematopoietic progenitor cell differentiation;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL24A1 https://www.ncbi.nlm.nih.gov/omim/?term=610025 http://www.informatics.jax.org/searchtool/Search.do?query=COL24A1&submit=Quick%0D%12949ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL24A1 rs12746325 0.244209 0.4106 0.3852 1 0 0 intronic intronic intronic COL24A1 COL24A1 ENSG00000171502 Na Na Na Na Na Na Het;A>G 1258;38|55 Het;A>G 613;65|34 Hom;A>G 2169;0|77 N N - 1 89520636 89520636 G A snp intronic GBP1 ENSG00000117228 guanylate binding protein 1 chr1:89518002-89531043 Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008] multiple sclerosis Mice homozygous for a targeted allele exhibit increased susceptibility to bacterial infection. Interferon gamma signaling GO:0002376;immune system process;IEA|GO:0050848;regulation of calcium-mediated signaling;IMP|GO:0050860;negative regulation of T cell receptor signaling pathway;IMP|GO:0051260;protein homooligomerization;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IMP|GO:1900041;negative regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903077;negative regulation of protein localization to plasma membrane;IMP GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IDA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0019003;GDP binding;IDA|GO:0019899;enzyme binding;IPI|GO:0019955;cytokine binding;IPI|GO:0030507;spectrin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0051879;Hsp90 protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GBP1 https://www.uniprot.org/uniprot/P32455 https://www.ncbi.nlm.nih.gov/omim/?term=600411 http://www.informatics.jax.org/searchtool/Search.do?query=GBP1&submit=Quick%0D%4852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GBP1 rs10922555 0.717053 0 0 1 0 0 intronic intronic intronic GBP1 GBP1 ENSG00000117228 Na Na Na Na Na Na Het;G>A 739;17|21 Het;G>A 636;1|17 Hom;G>A 901;0|22 N N - 1 89520643 89520643 C T snp intronic GBP1 ENSG00000117228 guanylate binding protein 1 chr1:89518002-89531043 Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008] multiple sclerosis Mice homozygous for a targeted allele exhibit increased susceptibility to bacterial infection. Interferon gamma signaling GO:0002376;immune system process;IEA|GO:0050848;regulation of calcium-mediated signaling;IMP|GO:0050860;negative regulation of T cell receptor signaling pathway;IMP|GO:0051260;protein homooligomerization;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IMP|GO:1900041;negative regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903077;negative regulation of protein localization to plasma membrane;IMP GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IDA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0019003;GDP binding;IDA|GO:0019899;enzyme binding;IPI|GO:0019955;cytokine binding;IPI|GO:0030507;spectrin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0051879;Hsp90 protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GBP1 https://www.uniprot.org/uniprot/P32455 https://www.ncbi.nlm.nih.gov/omim/?term=600411 http://www.informatics.jax.org/searchtool/Search.do?query=GBP1&submit=Quick%0D%4852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GBP1 rs10922556 0.717053 0 0 1 0 0 intronic intronic intronic GBP1 GBP1 ENSG00000117228 Na Na Na Na Na Na Het;C>T 735;15|18 Het;C>T 508;1|12 Hom;C>T 827;0|19 N N - 1 89618472 89618473 GA G indel intronic GBP7 Gbp7 ENSG00000213512 guanylate binding protein 7 chr1:89597434-89641723 Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] Malaria, Falciparum; Cholesterol Interferon gamma signaling GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GBP7 https://www.ncbi.nlm.nih.gov/omim/?term=612468 http://www.informatics.jax.org/searchtool/Search.do?query=GBP7&submit=Quick%0D%18134ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GBP7 rs10710842 0.640176 0 0.3594 1 0 0 intronic intronic intronic GBP7 GBP7 ENSG00000213512 Na Na Na Na Na Na Het;-A 204;3|14 Het;-A 141;3|11 Hom;-A 104;0|6 N N - 1 89756194 89756194 C T snp upstream LOC729930 rs56336717 0.360823 0 0 1 0 0 upstream upstream upstream LOC729930 LOC729930 ENSG00000238081 Na Na Na Na Na Na Het;C>T 103;5|4 Het;C>T 93;4|4 Hom;C>T 197;0|6 N N - 1 91043334 91043334 C T snp intergenic ZNF326 Zfp326 ENSG00000162664 zinc finger protein 326 chr1:90460671-90501090 C-Reactive Protein; Cell Adhesion Molecules; Fibrinogen; Aorta; Antidepressive Agents; Alcoholism; Arteries; Body Height; Atherosclerosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0032784;regulation of DNA-templated transcription, elongation;IMP|GO:0043484;regulation of RNA splicing;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005681;spliceosomal complex;IDA|GO:0016363;nuclear matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044609;DBIRD complex;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF326 https://www.ncbi.nlm.nih.gov/omim/?term=614601 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF326&submit=Quick%0D%10764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF326 rs519486 0.35643 0 0 1 0 0 intergenic intergenic intergenic ZNF326(dist=549240),BARHL2(dist=134245) ZNF326(dist=549240),BARHL2(dist=134245) ENSG00000229201(dist=44305),ENSG00000199666(dist=79973) Na Na Na Na Na Na Het;C>T 297;3|14 Het;C>T 74;3|4 Hom;C>T 132;0|6 N N - 1 9117948 9117948 C T snp intronic SLC2A5 Slc2a5 ENSG00000142583 solute carrier family 2 member 5 chr1:9095166-9148537 The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance. Intestinal hexose absorption GO:0003044;regulation of systemic arterial blood pressure mediated by a chemical signal;IEA|GO:0005975;carbohydrate metabolic process;TAS|GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0009750;response to fructose;IEA|GO:0015755;fructose transport;TAS|GO:0015758;glucose transport;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA|GO:0071332;cellular response to fructose stimulus;IEA|GO:1904659;glucose transmembrane transport;IEA|GO:1990539;fructose import across plasma membrane;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005353;fructose transmembrane transporter activity;TAS|GO:0005355;glucose transmembrane transporter activity;TAS|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0070061;fructose binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SLC2A5 https://www.uniprot.org/uniprot/P22732 https://www.ncbi.nlm.nih.gov/omim/?term=138230 http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A5&submit=Quick%0D%8304ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A5 rs74595111 0.0313498 0 0 1 0 0 intronic intronic intronic SLC2A5 SLC2A5 ENSG00000142583 Na Na Na Na Na Na Het;C>T 92;1|5 Ref Hom;C>T 95;0|4 N N - 1 91447985 91447985 C T snp intronic ZNF644 Zfp644 ENSG00000122482 zinc finger protein 644 chr1:91380859-91487829 The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] MYOPIA 21 AUTOSOMAL DOMINANT Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF644 https://www.uniprot.org/uniprot/Q9H582 https://hpo.jax.org/app/browse/search?q=ZNF644&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614159 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF644&submit=Quick%0D%5415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF644 rs358691 0.954473 0.9252 0 1 0 0 intronic intronic intronic ZNF644 ZNF644 ENSG00000122482 Na Na Na Na Na Na Het;C>T 256;5|11 Het;C>T 183;11|8 Hom;C>T 1063;0|36 N N - 1 91980447 91980447 A G snp synonymous SNV A990G T330T polar,hydrophilic,neutral polar,hydrophilic,neutral CDC7 Cdc7 ENSG00000097046 cell division cycle 7 chr1:91966408-91991321 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008] Blood Pressure; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Body Mass Index Homozygous mutation of this gene results in embryonic lethality between E3.5-E6.5. In conjunction with a Trp53-null allele, double homozygous mutant embryos survive up to E8.5. Activation of the pre-replicative complex GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006909;phagocytosis;IBA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008360;regulation of cell shape;IBA|GO:0010571;positive regulation of nuclear cell cycle DNA replication;IMP|GO:0010971;positive regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0044770;cell cycle phase transition;IMP|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0045171;intercellular bridge;IDA|GO:0072686;mitotic spindle;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IMP|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDC7 https://www.uniprot.org/uniprot/O00311 https://www.ncbi.nlm.nih.gov/omim/?term=603311 http://www.informatics.jax.org/searchtool/Search.do?query=CDC7&submit=Quick%0D%2294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC7 rs483532 0.76897 0.7792 0.7773 1 0 0 exonic exonic exonic CDC7 CDC7 ENSG00000097046 synonymous SNV synonymous SNV synonymous SNV CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T,CDC7:NM_001134419:exon9:c.A990G:p.T330T, CDC7:uc001dof.3:exon9:c.A990G:p.T330T,CDC7:uc010osw.2:exon8:c.A906G:p.T302T,CDC7:uc009wdc.3:exon9:c.A990G:p.T330T,CDC7:uc009wdd.3:exon1:c.A69G:p.T23T,CDC7:uc001doe.3:exon9:c.A990G:p.T330T, ENSG00000097046:ENST00000428239:exon9:c.A990G:p.T330T,ENSG00000097046:ENST00000430031:exon8:c.A906G:p.T302T,ENSG00000097046:ENST00000234626:exon9:c.A990G:p.T330T, Het;A>G 776;40|36 Ref Hom;A>G 3743;0|146 N N - 1 94480037 94480037 C T snp intronic ABCA4 Abca4 ENSG00000198691 ATP binding cassette subfamily A member 4 chr1:94458393-94586688 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008] Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. ABC-family proteins mediated transport GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA4 https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601691 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4 rs2275033 0.327077 0 0 1 0 0 intronic intronic intronic ABCA4 ABCA4 ENSG00000198691 Na Na Na Na Na Na Het;C>T 256;16|10 Het;C>T 237;7|12 Hom;C>T 399;0|13 N N - 1 95428414 95428414 G A snp ncRNA_intronic LOC729970 rs2766005 0.626797 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC729970 LOC729970 ENSG00000235501 Na Na Na Na Na Na Het;G>A 55;9|3 Ref Hom;G>A 303;0|11 N N - 1 95883583 95883583 A G snp intergenic RWDD3 Rwdd3 ENSG00000122481 RWD domain containing 3 chr1:95699711-95712781 Neuroblastoma; Blood Pressure; C-Reactive Protein; Platelet Count; Interleukin-6; Resistin; Body Mass Index; Eosinophils; Pain Measurement; Fibrinogen; Stroke; Blood Coagulation Factors SUMO is transferred from E1 to E2 (UBE2I, UBC9) GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0033235;positive regulation of protein sumoylation;IDA|GO:1902073;positive regulation of hypoxia-inducible factor-1alpha signaling pathway;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RWDD3 https://www.uniprot.org/uniprot/Q9Y3V2 https://www.ncbi.nlm.nih.gov/omim/?term=615875 http://www.informatics.jax.org/searchtool/Search.do?query=RWDD3&submit=Quick%0D%5414ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RWDD3 rs12093925 0.639976 0 0 1 0 0 intergenic intergenic intergenic RWDD3(dist=170802),FLJ31662(dist=56710) RWDD3(dist=170802),FLJ31662(dist=56710) ENSG00000237954(dist=37027),ENSG00000233907(dist=56710) Na Na Na Na Na Na Het;A>G 35;2|2 Ref Hom;A>G 119;0|4 N N - 1 95940864 95940864 A G snp ncRNA_intronic FLJ31662 rs676040 0.860623 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FLJ31662 FLJ31662 ENSG00000233907 Na Na Na Na Na Na Het;A>G 665;51|31 Ref Hom;A>G 2559;1|87 N N - 1 95979971 95979972 CT C indel ncRNA_exonic LOC100996635 rs150499853 0.125998 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100996635 BC067883 ENSG00000228971 Na Na Na Na Na Na Het;-T 815;43|43 Ref Hom;-T 4707;2|189 N N - 1 96081035 96081035 G A snp ncRNA_intronic AL356479.1 rs595311 0.226837 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC100996635(dist=100015),LOC102723661(dist=376589) BC067883(dist=100015),7SK(dist=1080377) ENSG00000228971 Na Na Na Na Na Na Het;G>A 1238;78|61 Ref Hom;G>A 3598;0|138 N N - 1 96380948 96380948 T G snp intergenic LOC100996635 rs4261160 0.180911 0 0 1 0 0 intergenic intergenic intergenic LOC100996635(dist=399928),LOC102723661(dist=76676) BC067883(dist=399928),7SK(dist=780464) ENSG00000221798(dist=28766),NONE(dist=NONE) Na Na Na Na Na Na Het;T>G 124;7|6 Het;T>G 187;1|8 Hom;T>G 416;0|16 N N - 1 96856718 96856718 T A snp ncRNA_exonic AC092393.1 rs10493884 0.0814696 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928241(dist=17037),PTBP2(dist=330443) BC067883(dist=875698),7SK(dist=304694) ENSG00000225923 Na Na Na Na Na Na Het;T>A 281;5|13 Ref Hom;T>A 715;0|27 N N - 20 10006682 10006682 T A snp ncRNA_exonic SNAP25-AS1 rs6057095 0.811302 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SNAP25-AS1 SNAP25-AS1 ENSG00000227906 Na Na Na Na Na Na Het;T>A 32;7|3 Ref Hom;T>A 215;0|7 N N - 20 10329888 10329888 T G snp ncRNA_exonic RPL23AP6 rs362561 0.788938 0 0 1 0 0 intergenic intergenic ncRNA_exonic SNAP25(dist=41822),MKKS(dist=55540) SNAP25(dist=41822),MKKS(dist=55540) ENSG00000214835 Na Na Na Na Na Na Het;T>G 183;1|9 Het;T>G 39;5|3 Hom;T>G 104;0|4 N N - 20 11248314 11248316 ATG A indel ncRNA_exonic LOC339593 rs146266788 0 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_intronic LOC339593 LOC339593(uc002wnx.4:c.*896_*894delinsT) ENSG00000230990 Na Na Na Na Na Na Het;-TG 3361;115|126 Ref Hom;-TG 8794;3|268 N N - 20 13845726 13845726 T C snp intronic SEL1L2 Sel1l2 ENSG00000101251 SEL1L2 ERAD E3 ligase adaptor subunit chr20:13829893-13977089 Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEL1L2 https://www.uniprot.org/uniprot/Q5TEA6 https://www.ncbi.nlm.nih.gov/omim/?term=614289 http://www.informatics.jax.org/searchtool/Search.do?query=SEL1L2&submit=Quick%0D%2692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEL1L2 rs2073292 0.265176 0 0 1 0 0 intronic intronic intronic SEL1L2 SEL1L2 ENSG00000101251 Na Na Na Na Na Na Het;T>C 103;7|5 Ref Hom;T>C 185;0|6 N N - 20 1753882 1753882 T C snp ncRNA_exonic AL109809.1 rs202488 0.88139 0 0 1 0 0 downstream downstream ncRNA_exonic LOC100289473 LOC100289473 ENSG00000232528 Na Na Na Na Na Na Het;T>C 62;7|3 Ref Hom;T>C 138;0|5 N N - 20 2542897 2542897 T C snp intronic TMC2 Tmc2 ENSG00000149488 transmembrane channel like 2 chr20:2517253-2622430 This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015] Lupus Erythematosus, Systemic Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMC2 https://www.uniprot.org/uniprot/Q8TDI7 https://www.ncbi.nlm.nih.gov/omim/?term=606707 http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2 rs4815324 0.673922 0 0 1 0 0 intronic intronic intronic TMC2 TMC2 ENSG00000149488 Na Na Na Na Na Na Het;T>C 42;3|2 Ref Hom;T>C 187;0|6 N N - 20 2552805 2552805 T A snp intronic TMC2 Tmc2 ENSG00000149488 transmembrane channel like 2 chr20:2517253-2622430 This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015] Lupus Erythematosus, Systemic Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060005;vestibular reflex;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032426;stereocilium tip;IEA GO:0005245;voltage-gated calcium channel activity;IEA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMC2 https://www.uniprot.org/uniprot/Q8TDI7 https://www.ncbi.nlm.nih.gov/omim/?term=606707 http://www.informatics.jax.org/searchtool/Search.do?query=TMC2&submit=Quick%0D%9238ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMC2 rs1883981 0.342652 0.4147 0.4581 1 0 0 intronic intronic intronic TMC2 TMC2 ENSG00000149488 Na Na Na Na Na Na Het;T>A 989;8|48 Het;T>A 1135;16|54 Hom;T>A 1220;7|60 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 25740228 25740228 G C snp intergenic ZNF337 ENSG00000130684 zinc finger protein 337 chr20:25654851-25677477 This gene encodes a zinc finger domain containing protein. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF337 https://www.uniprot.org/uniprot/Q9Y3M9 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF337&submit=Quick%0D%6410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF337 rs73347128 0 0 0 1 0 0 intergenic intergenic intergenic ZNF337(dist=62688),FAM182B(dist=3874) ZNF337(dist=62759),FAM182B(dist=3874) ENSG00000226465(dist=6831),ENSG00000175170(dist=3874) Na Na Na Na Na Na Het;G>C 92;2|3 Ref Hom;G>C 87;0|3 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 25860806 25860806 G T snp intergenic LOC101926935 rs78550478 0 0 0 1 0 0 intergenic intergenic intergenic LOC101926935(dist=26149),LOC101926955(dist=75642) FAM182B(dist=12020),BC052952(dist=75647) ENSG00000175170(dist=12020),ENSG00000228593(dist=39329) Na Na Na Na Na Na Het;G>T 97;8|6 Het;G>T 189;2|8 Hom;G>T 177;0|8 N N - 20 259674 259778 CGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGTTGGGACGGA C indel intronic C20orf96 6820408C15Rik ENSG00000196476 chromosome 20 open reading frame 96 chr20:251504-271390 GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/C20orf96 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96 Na 0 0 0 1 0 0 intronic intronic intronic C20orf96 C20orf96 ENSG00000196476 Na Na Na Na Na Na Het;-GGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGTTGGGACGGA 305;12|9 Ref Hom;-GGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGTTGGGACGGA 395;0|11 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 26167547 26167547 G A snp downstream MIR663AHG rs845778 0.573283 0 0 1 0 0 downstream downstream downstream MIR663AHG LOC284801 ENSG00000227195 Na Na Na Na Na Na Het;G>A 148;5|6 Ref Hom;G>A 167;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 26250621 26250621 C T snp intergenic MIR663AHG rs62199345 0 0 0 1 0 0 intergenic intergenic intergenic MIR663AHG(dist=60752),NONE(dist=NONE) LOC284801(dist=60752),NONE(dist=NONE) ENSG00000227195(dist=18459),NONE(dist=NONE) Na Na Na Na Na Na Het;C>T 198;1|6 Ref Hom;C>T 197;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 26250637 26250637 C A snp intergenic MIR663AHG rs77509075 0 0 0 1 0 0 intergenic intergenic intergenic MIR663AHG(dist=60768),NONE(dist=NONE) LOC284801(dist=60768),NONE(dist=NONE) ENSG00000227195(dist=18475),NONE(dist=NONE) Na Na Na Na Na Na Het;C>A 68;3|2 Ref Hom;C>A 197;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 26250641 26250641 T G snp intergenic MIR663AHG rs77562201 0 0 0 1 0 0 intergenic intergenic intergenic MIR663AHG(dist=60772),NONE(dist=NONE) LOC284801(dist=60772),NONE(dist=NONE) ENSG00000227195(dist=18479),NONE(dist=NONE) Na Na Na Na Na Na Het;T>G 47;3|2 Ref Hom;T>G 197;0|4 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 29632925 29632925 A C snp ncRNA_intronic FRG1B rs6057188 0 0 0 1 0 0 ncRNA_intronic intronic intronic FRG1B FRG1B ENSG00000149531 Na Na Na Na Na Na Het;A>C 1203;6|32 Het;A>C 727;3|20 Hom;A>C 635;2|17 N N - 20 3053255 3053255 C A snp downstream OXT Oxt ENSG00000101405 oxytocin/neurophysin I prepropeptide chr20:3052266-3053163 This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013] childhood-onset mood disorders; adult separation anxiety; Bulimia; Hypercholesterolemia|LDLC levels; Irritable Bowel Syndrome; attention deficit disorder conduct disorder oppositional defiant disorder; Autism; alcohol consumption; autism; patent ductus arteriosus; several psychiatric disorders Female homozygotes for targeted null mutations are unable to release milk for their suckling pups, while mutant males fail to develop social memory and are less aggressive. Both genders exhibit increased salt intake. G alpha (q) signalling events GO:0001975;response to amphetamine;IEA|GO:0002027;regulation of heart rate;IEA|GO:0002125;maternal aggressive behavior;IEA|GO:0007165;signal transduction;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007507;heart development;IEA|GO:0007565;female pregnancy;IEA|GO:0007613;memory;IEA|GO:0007625;grooming behavior;IEA|GO:0009744;response to sucrose;IEA|GO:0010701;positive regulation of norepinephrine secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0030431;sleep;IEA|GO:0032094;response to food;IEA|GO:0032308;positive regulation of prostaglandin secretion;IEA|GO:0032355;response to estradiol;IEA|GO:0032526;response to retinoic acid;IEA|GO:0032570;response to progesterone;IEA|GO:0034695;response to prostaglandin E;IEA|GO:0035176;social behavior;IEA|GO:0035811;negative regulation of urine volume;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0042220;response to cocaine;IEA|GO:0042538;hyperosmotic salinity response;IEA|GO:0042711;maternal behavior;IEA|GO:0042713;sperm ejaculation;IEA|GO:0042755;eating behavior;IEA|GO:0042756;drinking behavior;IEA|GO:0043434;response to peptide hormone;IEA|GO:0044058;regulation of digestive system process;IEA|GO:0045472;response to ether;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045777;positive regulation of blood pressure;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045925;positive regulation of female receptivity;IEA|GO:0048545;response to steroid hormone;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0051965;positive regulation of synapse assembly;IEA|GO:0060179;male mating behavior;IEA|GO:0060406;positive regulation of penile erection;IEA|GO:0060450;positive regulation of hindgut contraction;IEA|GO:0060455;negative regulation of gastric acid secretion;IEA|GO:0070474;positive regulation of uterine smooth muscle contraction;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0030141;secretory granule;IEA|GO:0043195;terminal bouton;IEA GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IEA|GO:0005185;neurohypophyseal hormone activity;IEA|GO:0031855;oxytocin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OXT https://www.uniprot.org/uniprot/P01178 https://www.ncbi.nlm.nih.gov/omim/?term=167050 http://www.informatics.jax.org/searchtool/Search.do?query=OXT&submit=Quick%0D%2728ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OXT rs2740210 0.266773 0 0 1 0 0 downstream downstream downstream OXT OXT ENSG00000101405 Na Na Na Na Na Na Het;C>A 83;2|4 Ref Hom;C>A 60;0|3 N N - 20 3091651 3091651 T C snp ncRNA_intronic UBOX5-AS1 rs7268061 0.265575 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic UBOX5-AS1 UBOX5-AS1 ENSG00000235958 Na Na Na Na Na Na Het;T>C 44;3|2 Ref Hom;T>C 113;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31278459 31278459 A G snp ncRNA_exonic BAK1P1 rs28542456 0.186901 0 0 1 0 0 intergenic intergenic ncRNA_exonic C20orf203(dist=38676),COMMD7(dist=12034) NONE(dist=NONE),COMMD7(dist=12034) ENSG00000175730 Na Na Na Na Na Na Het;A>G 109;6|6 Ref Hom;A>G 216;0|6 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31292298 31292299 CA C indel intronic COMMD7 Commd7 ENSG00000149600 COMM domain containing 7 chr20:31290493-31331803 Tobacco Use Disorder Neddylation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0051059;NF-kappaB binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COMMD7 https://www.uniprot.org/uniprot/Q86VX2 https://www.ncbi.nlm.nih.gov/omim/?term=616703 http://www.informatics.jax.org/searchtool/Search.do?query=COMMD7&submit=Quick%0D%9262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COMMD7 rs59379723 0.564297 0 0.3577 1 0 0 intronic intronic intronic COMMD7 COMMD7 ENSG00000149600 Na Na Na Na Na Na Het;-A 468;6|27 Ref Hom;-A 589;4|31 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31315862 31315862 G A snp intronic COMMD7 Commd7 ENSG00000149600 COMM domain containing 7 chr20:31290493-31331803 Tobacco Use Disorder Neddylation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0051059;NF-kappaB binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COMMD7 https://www.uniprot.org/uniprot/Q86VX2 https://www.ncbi.nlm.nih.gov/omim/?term=616703 http://www.informatics.jax.org/searchtool/Search.do?query=COMMD7&submit=Quick%0D%9262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COMMD7 rs2064936 0.215455 0.1544 0.1820 1 0 0 intronic intronic intronic COMMD7 COMMD7 ENSG00000149600 Na Na Na Na Na Na Het;G>A 2950;72|77 Het;G>A 3079;66|80 Hom;G>A 5449;0|123 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31315867 31315867 C T snp intronic COMMD7 Commd7 ENSG00000149600 COMM domain containing 7 chr20:31290493-31331803 Tobacco Use Disorder Neddylation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0051059;NF-kappaB binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COMMD7 https://www.uniprot.org/uniprot/Q86VX2 https://www.ncbi.nlm.nih.gov/omim/?term=616703 http://www.informatics.jax.org/searchtool/Search.do?query=COMMD7&submit=Quick%0D%9262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COMMD7 rs2064937 0.233227 0.1751 0.1879 1 0 0 intronic intronic intronic COMMD7 COMMD7 ENSG00000149600 Na Na Na Na Na Na Het;C>T 2909;70|76 Het;C>T 3004;63|76 Hom;C>T 5327;0|119 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31369136 31369137 AC A indel intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs3835238 0.619409 0.4356 0.5074 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;-C 1487;48|45 Het;-C 1701;37|50 Hom;-C 4336;0|109 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31374259 31374259 C T snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs2424913 0.688099 0.5080 0.5576 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;C>T 500;37|21 Het;C>T 430;11|18 Hom;C>T 1977;0|65 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31374520 31374520 A G snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs2424914 0.767173 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;A>G 1127;48|47 Het;A>G 1097;31|45 Hom;A>G 2382;0|84 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31374991 31374991 G A snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs4911107 0.617612 0.4347 0.5075 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;G>A 795;16|29 Het;G>A 723;19|30 Hom;G>A 2234;0|75 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31375311 31375311 A G snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs4911108 0.55631 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;A>G 677;12|26 Het;A>G 468;26|18 Hom;A>G 971;2|29 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31376490 31376490 T C snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs4911260 0.753994 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;T>C 37;4|3 Het;T>C 78;2|3 Hom;T>C 172;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31379665 31379665 C T snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs910084 0.530751 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;C>T 219;2|7 Het;C>T 49;8|3 Hom;C>T 379;0|12 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31380201 31380201 A T snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs1040555 0.659545 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;A>T 114;2|5 Ref Hom;A>T 171;0|6 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31380309 31380309 G A snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs1474738 0.502995 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;G>A 438;17|17 Het;G>A 303;13|12 Hom;G>A 716;0|20 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31381229 31381229 G A snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs993419 0.658347 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;G>A 267;7|9 Het;G>A 214;3|7 Hom;G>A 204;0|6 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31383353 31383353 T G snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs910085 0.584864 0.4029 0.4836 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;T>G 1584;85|70 Het;T>G 1438;90|68 Hom;T>G 3512;0|124 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31383530 31383530 C T snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs875041 0.658546 0.4806 0.5069 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;C>T 782;55|40 Het;C>T 786;34|35 Hom;C>T 2171;2|82 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31386347 31386347 T C snp synonymous SNV T1512C C504C polar,hydrophobic,neutral polar,hydrophobic,neutral DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs6058891 0.755791 0.5791 0.5806 1 0 0 exonic exonic exonic DNMT3B DNMT3B ENSG00000088305 synonymous SNV synonymous SNV unknown DNMT3B:NM_175848:exon14:c.T1512C:p.C504C,DNMT3B:NM_006892:exon15:c.T1572C:p.C524C,DNMT3B:NM_001207056:exon12:c.T1284C:p.C428C,DNMT3B:NM_175849:exon14:c.T1512C:p.C504C,DNMT3B:NM_175850:exon14:c.T1548C:p.C516C,DNMT3B:NM_001207055:exon13:c.T1386C:p.C462C, DNMT3B:uc002wye.3:exon14:c.T1512C:p.C504C,DNMT3B:uc002wyg.3:exon8:c.T669C:p.C223C,DNMT3B:uc010zua.2:exon12:c.T1284C:p.C428C,DNMT3B:uc002wyd.3:exon14:c.T1512C:p.C504C,DNMT3B:uc010ztz.2:exon13:c.T1386C:p.C462C,DNMT3B:uc002wyf.3:exon14:c.T1548C:p.C516C,DNMT3B:uc002wyc.3:exon15:c.T1572C:p.C524C, UNKNOWN Het;T>C 1299;48|56 Het;T>C 1122;41|52 Hom;T>C 1913;0|70 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31386449 31386449 T C snp synonymous SNV T1614C Y538Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs2424922 0.755791 0.5777 0.5792 1 0 0 exonic exonic exonic DNMT3B DNMT3B ENSG00000088305 synonymous SNV synonymous SNV unknown DNMT3B:NM_175848:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_006892:exon15:c.T1674C:p.Y558Y,DNMT3B:NM_001207056:exon12:c.T1386C:p.Y462Y,DNMT3B:NM_175849:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_175850:exon14:c.T1650C:p.Y550Y,DNMT3B:NM_001207055:exon13:c.T1488C:p.Y496Y, DNMT3B:uc002wye.3:exon14:c.T1614C:p.Y538Y,DNMT3B:uc002wyg.3:exon8:c.T771C:p.Y257Y,DNMT3B:uc010zua.2:exon12:c.T1386C:p.Y462Y,DNMT3B:uc002wyd.3:exon14:c.T1614C:p.Y538Y,DNMT3B:uc010ztz.2:exon13:c.T1488C:p.Y496Y,DNMT3B:uc002wyf.3:exon14:c.T1650C:p.Y550Y,DNMT3B:uc002wyc.3:exon15:c.T1674C:p.Y558Y, UNKNOWN Het;T>C 1171;66|57 Het;T>C 791;34|35 Hom;T>C 1906;0|70 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31387954 31387954 C G snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs1997797 0.714058 0.5340 0.5663 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;C>G 558;33|26 Het;C>G 625;37|31 Hom;C>G 1116;4|47 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31388636 31388636 T C snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs2424928 0.742612 0.5621 0.5737 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;T>C 491;25|24 Het;T>C 432;11|19 Hom;T>C 834;0|32 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31389009 31389009 C T snp intronic DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs2065576 0.742612 0 0 1 0 0 intronic intronic intronic DNMT3B DNMT3B ENSG00000088305 Na Na Na Na Na Na Het;C>T 601;19|24 Het;C>T 329;23|16 Hom;C>T 968;0|32 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31397019 31397020 AT A indel UTR3 *1310_*1311delinsA DNMT3B Dnmt3b ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B rs398088406 0.709265 0 0 1 0 0 UTR3 UTR3 UTR3 DNMT3B(NM_175849:c.*1310_*1311delinsA,NM_175848:c.*1310_*1311delinsA,NM_001207056:c.*1310_*1311delinsA,NM_001207055:c.*1310_*1311delinsA,NM_006892:c.*1310_*1311delinsA,NM_175850:c.*1310_*1311delinsA) DNMT3B(uc002wyc.3:c.*1310_*1311delinsA,uc002wyd.3:c.*1310_*1311delinsA,uc002wye.3:c.*1310_*1311delinsA,uc010ztz.2:c.*1310_*1311delinsA,uc010zua.2:c.*1310_*1311delinsA,uc002wyf.3:c.*1310_*1311delinsA,uc002wyg.3:c.*1310_*1311delinsA,uc010geg.3:c.*1314_*1315delinsA) ENSG00000088305(ENST00000328111:c.*1310_*1311delinsA,ENST00000348286:c.*1310_*1311delinsA,ENST00000353855:c.*1310_*1311delinsA,ENST00000344505:c.*1314_*1315delinsA,ENST00000201963:c.*1310_*1311delinsA) Na Na Na Na Na Na Het;-T 2071;80|99 Het;-T 1793;57|84 Hom;-T 4405;0|165 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31427484 31427488 TTTTG T indel intronic MAPRE1 Mapre1 ENSG00000101367 microtubule associated protein RP/EB family member 1 chr20:31407699-31438211 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008] breast cancer AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0008283;cell proliferation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0031115;negative regulation of microtubule polymerization;IDA|GO:0035372;protein localization to microtubule;IDA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1903033;positive regulation of microtubule plus-end binding;IEA|GO:1904527;negative regulation of microtubule binding;TAS GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030981;cortical microtubule cytoskeleton;IDA|GO:0031253;cell projection membrane;IEA|GO:0035371;microtubule plus-end;IEA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MAPRE1 https://www.uniprot.org/uniprot/Q15691 https://www.ncbi.nlm.nih.gov/omim/?term=603108 http://www.informatics.jax.org/searchtool/Search.do?query=MAPRE1&submit=Quick%0D%2724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPRE1 rs150424676 0.216653 0 0 1 0 0 intronic intronic intronic MAPRE1 MAPRE1 ENSG00000101367 Na Na Na Na Na Na Het;-TTTG 809;26|22 Het;-TTTG 341;28|11 Hom;-TTTG 1202;1|31 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31427635 31427635 C T snp synonymous SNV C570T D190D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MAPRE1 Mapre1 ENSG00000101367 microtubule associated protein RP/EB family member 1 chr20:31407699-31438211 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008] breast cancer AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0008283;cell proliferation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0031115;negative regulation of microtubule polymerization;IDA|GO:0035372;protein localization to microtubule;IDA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1903033;positive regulation of microtubule plus-end binding;IEA|GO:1904527;negative regulation of microtubule binding;TAS GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030981;cortical microtubule cytoskeleton;IDA|GO:0031253;cell projection membrane;IEA|GO:0035371;microtubule plus-end;IEA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MAPRE1 https://www.uniprot.org/uniprot/Q15691 https://www.ncbi.nlm.nih.gov/omim/?term=603108 http://www.informatics.jax.org/searchtool/Search.do?query=MAPRE1&submit=Quick%0D%2724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPRE1 rs2070090 0.310903 0.2401 0.2205 1 0 0 exonic exonic exonic MAPRE1 MAPRE1 ENSG00000101367 synonymous SNV synonymous SNV unknown MAPRE1:NM_012325:exon5:c.C570T:p.D190D, MAPRE1:uc002wyh.3:exon5:c.C570T:p.D190D, UNKNOWN Het;C>T 2195;158|101 Het;C>T 2508;137|128 Hom;C>T 5627;1|215 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31573017 31573017 G C snp intronic SUN5 Sun5 ENSG00000167098 Sad1 and UNC84 domain containing 5 chr20:31571579-31592239 Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis. SPERMATOGENIC FAILURE 16 Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SUN5 https://www.uniprot.org/uniprot/Q8TC36 https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613942 http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5 rs41311306 0.0173722 0.0367 0.0346 1 0 0 intronic intronic intronic SUN5 SUN5 ENSG00000167098 Na Na Na Na Na Na Het;G>C 728;38|34 Het;G>C 827;28|36 Hom;G>C 1195;0|43 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31575716 31575716 T G snp intronic SUN5 Sun5 ENSG00000167098 Sad1 and UNC84 domain containing 5 chr20:31571579-31592239 Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis. SPERMATOGENIC FAILURE 16 Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SUN5 https://www.uniprot.org/uniprot/Q8TC36 https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613942 http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5 rs17123930 0.14996 0 0 1 0 0 intronic intronic intronic SUN5 SUN5 ENSG00000167098 Na Na Na Na Na Na Het;T>G 238;3|9 Het;T>G 67;6|3 Hom;T>G 270;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31585292 31585292 A G snp intronic SUN5 Sun5 ENSG00000167098 Sad1 and UNC84 domain containing 5 chr20:31571579-31592239 Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis. SPERMATOGENIC FAILURE 16 Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SUN5 https://www.uniprot.org/uniprot/Q8TC36 https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613942 http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5 rs221975 0.723642 0 0 1 0 0 intronic intronic intronic SUN5 SUN5 ENSG00000167098 Na Na Na Na Na Na Het;A>G 112;4|4 Ref Hom;A>G 264;0|7 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31585351 31585351 C G snp intronic SUN5 Sun5 ENSG00000167098 Sad1 and UNC84 domain containing 5 chr20:31571579-31592239 Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis. SPERMATOGENIC FAILURE 16 Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SUN5 https://www.uniprot.org/uniprot/Q8TC36 https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613942 http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5 rs452299 0.560703 0 0 1 0 0 intronic intronic intronic SUN5 SUN5 ENSG00000167098 Na Na Na Na Na Na Het;C>G 268;12|13 Het;C>G 168;12|9 Hom;C>G 683;0|24 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31588047 31588047 T A snp intronic SUN5 Sun5 ENSG00000167098 Sad1 and UNC84 domain containing 5 chr20:31571579-31592239 Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis. SPERMATOGENIC FAILURE 16 Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SUN5 https://www.uniprot.org/uniprot/Q8TC36 https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613942 http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5 rs78109895 0.0157748 0 0 1 0 0 intronic intronic intronic SUN5 SUN5 ENSG00000167098 Na Na Na Na Na Na Het;T>A 122;8|6 Het;T>A 38;4|3 Hom;T>A 232;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31647672 31647672 A C snp intronic BPIFB3 Bpifb3 ENSG00000186190 BPI fold containing family B member 3 chr20:31643230-31661434 Mice homozygous for disruptions in this gene display a normal phenotype. GO:0045087;innate immune response;NAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB3 https://www.ncbi.nlm.nih.gov/omim/?term=615717 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB3&submit=Quick%0D%15590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB3 rs13037128 0.0253594 0.0348 0.0432 1 0 0 intronic intronic intronic BPIFB3 BPIFB3 ENSG00000186190 Na Na Na Na Na Na Het;A>C 837;41|38 Het;A>C 470;40|24 Hom;A>C 1337;0|47 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31660489 31660489 T C snp intronic BPIFB3 Bpifb3 ENSG00000186190 BPI fold containing family B member 3 chr20:31643230-31661434 Mice homozygous for disruptions in this gene display a normal phenotype. GO:0045087;innate immune response;NAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB3 https://www.ncbi.nlm.nih.gov/omim/?term=615717 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB3&submit=Quick%0D%15590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB3 rs11700200 0.21266 0.2175 0.2425 1 0 0 intronic intronic intronic BPIFB3 BPIFB3 ENSG00000186190 Na Na Na Na Na Na Het;T>C 469;31|23 Het;T>C 781;25|32 Hom;T>C 1261;0|46 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31671209 31671209 G C snp nonsynonymous SNV G206C R69P polar,hydrophilic,charged(+) hydrophobic,neutral BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs13036385 0.215655 0.2271 0.2422 0.33 4 12 exonic exonic exonic BPIFB4 BPIFB4 ENSG00000186191 nonsynonymous SNV nonsynonymous SNV unknown BPIFB4:NM_182519:exon3:c.G206C:p.R69P, BPIFB4:uc010zue.2:exon3:c.G206C:p.R69P, UNKNOWN Het;G>C 790;51|35 Het;G>C 1227;40|53 Hom;G>C 1919;2|71 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31671599 31671599 A G snp nonsynonymous SNV A596G D199G polar,hydrophilic,charged(-) aliphatic,neutral BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs4339026 0.233227 0.2401 0.2467 0.31 4 13 exonic exonic exonic BPIFB4 BPIFB4 ENSG00000186191 nonsynonymous SNV nonsynonymous SNV unknown BPIFB4:NM_182519:exon3:c.A596G:p.D199G, BPIFB4:uc010zue.2:exon3:c.A596G:p.D199G, UNKNOWN Het;A>G 1514;85|67 Het;A>G 1381;83|64 Hom;A>G 3059;0|108 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31671663 31671663 T C snp synonymous SNV T660C T220T polar,hydrophilic,neutral polar,hydrophilic,neutral BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs2424945 0.379193 0.4184 0.3532 1 0 0 exonic exonic exonic BPIFB4 BPIFB4 ENSG00000186191 synonymous SNV synonymous SNV unknown BPIFB4:NM_182519:exon3:c.T660C:p.T220T, BPIFB4:uc010zue.2:exon3:c.T660C:p.T220T, UNKNOWN Het;T>C 1303;69|61 Het;T>C 1314;66|65 Hom;T>C 2986;0|107 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31671693 31671693 C T snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs3926669 0.239617 0.2317 0.2523 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;C>T 1088;60|51 Het;C>T 1020;52|48 Hom;C>T 2101;0|76 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31671766 31671766 G A snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs1547004 0.232827 0 0 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;G>A 287;16|11 Het;G>A 381;10|15 Hom;G>A 795;0|26 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31671798 31671798 T C snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs2424946 0.372604 0 0 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;T>C 108;7|4 Het;T>C 157;3|6 Hom;T>C 586;0|16 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31672812 31672812 C T snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs71349705 0.0251597 0.0411 0.0485 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;C>T 1487;60|64 Het;C>T 2059;73|91 Hom;C>T 2520;4|95 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31672998 31672998 T C snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs2070321 0.327875 0 0 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;T>C 100;5|4 Het;T>C 125;5|5 Hom;T>C 78;0|3 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31678534 31678534 T C snp synonymous SNV T1072C L358L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs2070326 0.217652 0.2197 0.2444 1 0 0 exonic exonic exonic BPIFB4 BPIFB4 ENSG00000186191 synonymous SNV synonymous SNV unknown BPIFB4:NM_182519:exon8:c.T1072C:p.L358L, BPIFB4:uc010zue.2:exon8:c.T1072C:p.L358L, UNKNOWN Het;T>C 595;37|29 Het;T>C 546;44|28 Hom;T>C 1715;0|65 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31678760 31678760 A G snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs7273967 0.276558 0 0 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;A>G 108;3|4 Ref Hom;A>G 142;0|4 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31680234 31680234 C T snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs2070327 0.271765 0.2969 0.3666 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;C>T 147;9|8 Ref Hom;C>T 508;0|17 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31685405 31685405 C T snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs13041016 0.210663 0.2074 0.2347 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;C>T 539;26|26 Het;C>T 518;16|24 Hom;C>T 752;0|27 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31688241 31688241 T C snp nonsynonymous SNV T1579C F527L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs11699009 0.515775 0.6356 0.5666 0.23 3 13 exonic exonic exonic BPIFB4 BPIFB4 ENSG00000186191 nonsynonymous SNV nonsynonymous SNV unknown BPIFB4:NM_182519:exon12:c.T1579C:p.F527L, BPIFB4:uc010zue.2:exon12:c.T1579C:p.F527L, UNKNOWN Het;T>C 807;53|36 Het;T>C 513;49|30 Hom;T>C 1824;2|66 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31688260 31688260 C T snp nonsynonymous SNV C1598T T533I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs11696307 0.472644 0.5920 0.5539 0.23 3 13 exonic exonic exonic BPIFB4 BPIFB4 ENSG00000186191 nonsynonymous SNV nonsynonymous SNV unknown BPIFB4:NM_182519:exon12:c.C1598T:p.T533I, BPIFB4:uc010zue.2:exon12:c.C1598T:p.T533I, UNKNOWN Het;C>T 788;56|40 Het;C>T 472;66|31 Hom;C>T 1787;2|72 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31688330 31688330 C T snp intronic BPIFB4 Bpifb4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 rs11696310 0.477037 0.5993 0.5550 1 0 0 intronic intronic intronic BPIFB4 BPIFB4 ENSG00000186191 Na Na Na Na Na Na Het;C>T 743;44|39 Het;C>T 191;53|16 Hom;C>T 1363;0|53 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31798163 31798163 A G snp ncRNA_exonic BPIFA4P Na 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic BPIFA4P BPIFA4P ENSG00000183566 Na Na Na Na Na Na Het;A>G 2169;99|87 Het;A>G 2325;92|102 Hom;A>G 5395;2|193 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 31891003 31891003 C T snp intronic BPIFB1 Bpifb1 ENSG00000125999 BPI fold containing family B member 1 chr20:31861286-31897684 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. Antimicrobial peptides GO:0002227;innate immune response in mucosa;IDA|GO:0002376;immune system process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0034144;negative regulation of toll-like receptor 4 signaling pathway;IDA|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB1 https://www.uniprot.org/uniprot/Q8TDL5 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB1&submit=Quick%0D%5898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB1 rs2253335 0.40016 0 0 1 0 0 intronic intronic intronic BPIFB1 BPIFB1 ENSG00000125999 Na Na Na Na Na Na Het;C>T 239;11|10 Het;C>T 137;4|6 Hom;C>T 457;0|15 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 32228115 32228115 G A snp intronic CBFA2T2 Cbfa2t2 ENSG00000078699 CBFA2/RUNX1 translocation partner 2 chr20:32077881-32237842 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0010977;negative regulation of neuron projection development;ISS|GO:0030855;epithelial cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0060575;intestinal epithelial cell differentiation;IEA GO:0005634;nucleus;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CBFA2T2 https://www.uniprot.org/uniprot/O43439 https://www.ncbi.nlm.nih.gov/omim/?term=603672 http://www.informatics.jax.org/searchtool/Search.do?query=CBFA2T2&submit=Quick%0D%1672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBFA2T2 rs144832090 0.00559105 0.0071 0.0102 1 0 0 intronic intronic intronic CBFA2T2 CBFA2T2 ENSG00000078699 Na Na Na Na Na Na Het;G>A 484;18|18 Het;G>A 469;7|19 Hom;G>A 737;0|24 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 32255233 32255233 T C snp UTR5 -71T>C ACTL10 Actl10 ENSG00000182584 actin like 10 chr20:32254304-32256331 http://www.genecards.org/index.php?path=/Search/keyword/ACTL10 http://www.informatics.jax.org/searchtool/Search.do?query=ACTL10&submit=Quick%0D%14819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL10 rs3746459 0.709465 0 0 1 0 0 UTR5 UTR5 UTR5 ACTL10(NM_001024675:c.-71T>C) ACTL10(uc002wzt.3:c.-71T>C) ENSG00000182584(ENST00000330271:c.-71T>C) Na Na Na Na Na Na Het;T>C 244;4|9 Ref Hom;T>C 137;0|4 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 32265513 32265513 A G snp intronic E2F1 E2f1 ENSG00000101412 E2F transcription factor 1 chr20:32263489-32274210 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008] Bone Mineral Density; ovarian cancer; Lung carcinomas; epithelial ovarian cancer Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. Activation of E2F1 target genes at G1/S GO:0000077;DNA damage checkpoint;IMP|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0010628;positive regulation of gene expression;IDA|GO:0030900;forebrain development;IEA|GO:0043276;anoikis;IEA|GO:0043392;negative regulation of DNA binding;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0048255;mRNA stabilization;IDA|GO:0051726;regulation of cell cycle;IEA|GO:0070345;negative regulation of fat cell proliferation;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1990086;lens fiber cell apoptotic process;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/E2F1 https://www.uniprot.org/uniprot/Q01094 https://www.ncbi.nlm.nih.gov/omim/?term=189971 http://www.informatics.jax.org/searchtool/Search.do?query=E2F1&submit=Quick%0D%2730ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F1 rs2071056 0.454473 0 0 1 0 0 intronic intronic intronic E2F1 E2F1 ENSG00000101412 Na Na Na Na Na Na Het;A>G 44;2|2 Ref Hom;A>G 177;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 32266134 32266134 C T snp nonsynonymous SNV G598A G200S aliphatic,neutral polar,hydrophilic,neutral E2F1 E2f1 ENSG00000101412 E2F transcription factor 1 chr20:32263489-32274210 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008] Bone Mineral Density; ovarian cancer; Lung carcinomas; epithelial ovarian cancer Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. Activation of E2F1 target genes at G1/S GO:0000077;DNA damage checkpoint;IMP|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0010628;positive regulation of gene expression;IDA|GO:0030900;forebrain development;IEA|GO:0043276;anoikis;IEA|GO:0043392;negative regulation of DNA binding;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0048255;mRNA stabilization;IDA|GO:0051726;regulation of cell cycle;IEA|GO:0070345;negative regulation of fat cell proliferation;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1990086;lens fiber cell apoptotic process;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/E2F1 https://www.uniprot.org/uniprot/Q01094 https://www.ncbi.nlm.nih.gov/omim/?term=189971 http://www.informatics.jax.org/searchtool/Search.do?query=E2F1&submit=Quick%0D%2730ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F1 rs35385772 0.0127796 0.0195 0.0228 0.00 0 13 exonic exonic exonic E2F1 E2F1 ENSG00000101412 nonsynonymous SNV nonsynonymous SNV unknown E2F1:NM_005225:exon4:c.G598A:p.G200S, E2F1:uc002wzu.4:exon4:c.G598A:p.G200S, UNKNOWN Het;C>T 1155;39|52 Het;C>T 1024;27|49 Hom;C>T 2459;0|91 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 32336709 32336709 C G snp intronic ZNF341 Zfp341 ENSG00000131061 zinc finger protein 341 chr20:32319463-32380075 Body Height GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF341 https://www.uniprot.org/uniprot/Q9BYN7 https://hpo.jax.org/app/browse/search?q=ZNF341&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=ZNF341&submit=Quick%0D%6488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF341 rs142373708 0.00399361 0.0075 0.0085 1 0 0 intronic intronic intronic ZNF341 ZNF341 ENSG00000131061 Na Na Na Na Na Na Het;C>G 703;20|28 Het;C>G 613;22|27 Hom;C>G 1147;2|42 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 32803408 32803408 C T snp ncRNA_exonic XPOTP1 Na 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic EIF2S2(dist=103323),ASIP(dist=44763) EIF2S2(dist=103323),ASIP(dist=44763) ENSG00000214185 Na Na Na Na Na Na Het;C>T 963;44|44 Het;C>T 895;34|38 Hom;C>T 1623;0|59 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33346832 33346833 GT G indel intronic NCOA6 Ncoa6 ENSG00000198646 nuclear receptor coactivator 6 chr20:33284722-33413452 The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] Tobacco Use Disorder; lung cancer; plasma HDL cholesterol (HDL-C) levels; Birth Weight|Diabetes Mellitus Homozygotes for targeted null mutations exhibit retarded embryonic growth and defects of the placenta, heart, liver, and nervous system. Mutants die around midgestation. RUNX3 regulates YAP1-mediated transcription GO:0006260;DNA replication;NAS|GO:0006281;DNA repair;NAS|GO:0006310;DNA recombination;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007420;brain development;ISS|GO:0007507;heart development;ISS|GO:0009725;response to hormone;TAS|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030099;myeloid cell differentiation;IDA|GO:0030520;intracellular estrogen receptor signaling pathway;NAS|GO:0042921;glucocorticoid receptor signaling pathway;NAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;TAS|GO:0005829;cytosol;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003682;chromatin binding;ISS|GO:0003713;transcription coactivator activity;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0030331;estrogen receptor binding;TAS|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IPI|GO:0046965;retinoid X receptor binding;TAS|GO:0046966;thyroid hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NCOA6 https://www.ncbi.nlm.nih.gov/omim/?term=605299 http://www.informatics.jax.org/searchtool/Search.do?query=NCOA6&submit=Quick%0D%16949ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOA6 rs11476500 0.356829 0 0 1 0 0 intronic intronic intronic NCOA6 NCOA6 ENSG00000198646 Na Na Na Na Na Na Het;-T 98;3|7 Het;-T 55;4|5 Hom;-T 104;0|6 N N - 20 3355567 3355567 T C snp intronic C20orf194 4930402H24Rik ENSG00000088854 chromosome 20 open reading frame 194 chr20:3229951-3388272 This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Hepatitis C, Chronic http://www.genecards.org/index.php?path=/Search/keyword/C20orf194 https://www.uniprot.org/uniprot/Q5TEA3 https://www.ncbi.nlm.nih.gov/omim/?term=614146 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf194&submit=Quick%0D%2019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf194 rs2208030 0.511981 0 0 1 0 0 intronic intronic intronic C20orf194 C20orf194 ENSG00000088854 Na Na Na Na Na Na Het;T>C 151;5|5 Het;T>C 214;1|7 Hom;T>C 583;0|16 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33572979 33572979 C T snp intronic MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs3746448 0.135184 0.1375 0.1696 1 0 0 intronic intronic intronic MYH7B MYH7B ENSG00000078814 Na Na Na Na Na Na Het;C>T 1096;21|47 Het;C>T 1099;30|48 Hom;C>T 1301;0|46 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33574765 33574765 T C snp synonymous SNV T1107C N369N polar,hydrophilic,neutral polar,hydrophilic,neutral MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs3746446 0.174521 0.1879 0.1959 1 0 0 exonic exonic exonic MYH7B MYH7B ENSG00000078814 synonymous SNV synonymous SNV unknown MYH7B:NM_020884:exon15:c.T1107C:p.N369N, MYH7B:uc002xbi.2:exon15:c.T1107C:p.N369N, UNKNOWN Het;T>C 1534;89|71 Het;T>C 1290;54|60 Hom;T>C 3075;0|114 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33578251 33578251 A G snp ncRNA_exonic MIR499A rs3746444 0.183506 0.1951 0.2013 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR499A,MIR499B MIR499A,MIR499B ENSG00000207635 Na Na Na Na Na Na Het;A>G 670;31|29 Het;A>G 604;23|27 Hom;A>G 1502;0|50 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33581889 33581889 T C snp intronic MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs7268266 0.17512 0 0 1 0 0 intronic intronic intronic MYH7B MYH7B ENSG00000078814 Na Na Na Na Na Na Het;T>C 173;13|7 Het;T>C 143;11|7 Hom;T>C 577;0|19 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33586193 33586193 C T snp synonymous SNV C3969T S1323S polar,hydrophilic,neutral polar,hydrophilic,neutral MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs3746436 0.171126 0.1792 0.1947 1 0 0 exonic exonic exonic MYH7B MYH7B ENSG00000078814 synonymous SNV synonymous SNV unknown MYH7B:NM_020884:exon33:c.C3969T:p.S1323S, MYH7B:uc002xbi.2:exon33:c.C3969T:p.S1323S, UNKNOWN Het;C>T 2916;93|124 Het;C>T 1893;124|98 Hom;C>T 4948;2|187 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33587198 33587198 G C snp nonsynonymous SNV G4656C K1552N polar,hydrophilic,charged(+) polar,hydrophilic,neutral MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs3746435 0.171526 0.1756 0.2690 0.83 10 12 exonic exonic exonic MYH7B MYH7B ENSG00000078814 nonsynonymous SNV nonsynonymous SNV unknown MYH7B:NM_020884:exon36:c.G4656C:p.K1552N, MYH7B:uc002xbi.2:exon36:c.G4656C:p.K1552N, UNKNOWN Het;G>C 1154;59|48 Het;G>C 979;53|42 Hom;G>C 2344;0|82 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33588698 33588720 TGAGGCTGGGCAAGGGCTGTGGG T indel splicing MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs367622744 0.170927 0.1804 0.1915 1 0 0 splicing splicing splicing MYH7B MYH7B ENSG00000078814 Na Na Na Na Na Na Het;-GAGGCTGGGCAAGGGCTGTGGG 2375;97|67 Het;-GAGGCTGGGCAAGGGCTGTGGG 2062;98|57 Hom;-GAGGCTGGGCAAGGGCTGTGGG 4589;1|111 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33589107 33589107 G A snp synonymous SNV G5661A K1887K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MYH7B Myh7b ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B rs36003887 0.174521 0.1836 0.2172 1 0 0 exonic exonic exonic MYH7B MYH7B ENSG00000078814 synonymous SNV synonymous SNV unknown MYH7B:NM_020884:exon42:c.G5661A:p.K1887K, MYH7B:uc002xbi.2:exon42:c.G5661A:p.K1887K, UNKNOWN Het;G>A 1379;60|58 Het;G>A 1166;51|51 Hom;G>A 2795;0|100 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33592248 33592248 C T snp intronic TRPC4AP Trpc4ap ENSG00000100991 transient receptor potential cation channel subfamily C member 4 associated protein chr20:33590207-33680674 Alzheimer's disease TRP channels GO:0006511;ubiquitin-dependent protein catabolic process;IDA|GO:0016567;protein ubiquitination;IDA|GO:0048820;hair follicle maturation;IEA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRPC4AP https://www.uniprot.org/uniprot/Q8TEL6 https://www.ncbi.nlm.nih.gov/omim/?term=608430 http://www.informatics.jax.org/searchtool/Search.do?query=TRPC4AP&submit=Quick%0D%2633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC4AP rs752448 0.174321 0.1925 0.2488 1 0 0 intronic intronic intronic TRPC4AP TRPC4AP ENSG00000100991 Na Na Na Na Na Na Het;C>T 1423;62|61 Het;C>T 1226;65|56 Hom;C>T 2971;0|113 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33600740 33600740 C T snp intronic TRPC4AP Trpc4ap ENSG00000100991 transient receptor potential cation channel subfamily C member 4 associated protein chr20:33590207-33680674 Alzheimer's disease TRP channels GO:0006511;ubiquitin-dependent protein catabolic process;IDA|GO:0016567;protein ubiquitination;IDA|GO:0048820;hair follicle maturation;IEA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRPC4AP https://www.uniprot.org/uniprot/Q8TEL6 https://www.ncbi.nlm.nih.gov/omim/?term=608430 http://www.informatics.jax.org/searchtool/Search.do?query=TRPC4AP&submit=Quick%0D%2633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC4AP rs1885117 0.174321 0.1951 0 1 0 0 intronic intronic intronic TRPC4AP TRPC4AP ENSG00000100991 Na Na Na Na Na Na Het;C>T 292;14|14 Het;C>T 254;7|11 Hom;C>T 419;0|17 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33645297 33645297 T C snp intronic TRPC4AP Trpc4ap ENSG00000100991 transient receptor potential cation channel subfamily C member 4 associated protein chr20:33590207-33680674 Alzheimer's disease TRP channels GO:0006511;ubiquitin-dependent protein catabolic process;IDA|GO:0016567;protein ubiquitination;IDA|GO:0048820;hair follicle maturation;IEA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRPC4AP https://www.uniprot.org/uniprot/Q8TEL6 https://www.ncbi.nlm.nih.gov/omim/?term=608430 http://www.informatics.jax.org/searchtool/Search.do?query=TRPC4AP&submit=Quick%0D%2633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC4AP rs149376668 0.00199681 0.0047 0.0052 1 0 0 intronic intronic intronic TRPC4AP TRPC4AP ENSG00000100991 Na Na Na Na Na Na Het;T>C 643;36|29 Het;T>C 780;32|39 Hom;T>C 2118;0|77 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33703607 33703607 C T snp nonsynonymous SNV G1366A A456T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral EDEM2 Edem2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 rs3746429 0.113818 0.1284 0.1585 0.08 1 13 exonic exonic exonic EDEM2 EDEM2 ENSG00000088298 nonsynonymous SNV nonsynonymous SNV unknown EDEM2:NM_001145025:exon10:c.G1255A:p.A419T,EDEM2:NM_018217:exon11:c.G1366A:p.A456T, EDEM2:uc002xbo.2:exon11:c.G1366A:p.A456T,EDEM2:uc002xbn.2:exon9:c.G910A:p.A304T,EDEM2:uc002xbq.2:exon10:c.G1255A:p.A419T,EDEM2:uc010zus.1:exon10:c.G703A:p.A235T,EDEM2:uc010zuu.1:exon9:c.G538A:p.A180T,EDEM2:uc010zut.1:exon10:c.G1243A:p.A415T, UNKNOWN Het;C>T 1433;62|64 Het;C>T 1077;46|46 Hom;C>T 2092;0|79 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33730387 33730387 C T snp intronic EDEM2 Edem2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 rs6120849 0.156749 0 0 1 0 0 intronic intronic intronic EDEM2 EDEM2 ENSG00000088298 Na Na Na Na Na Na Het;C>T 736;29|30 Het;C>T 177;25|11 Hom;C>T 1073;0|38 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33730464 33730464 A G snp intronic EDEM2 Edem2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 rs3746427 0.605431 0 0 1 0 0 intronic intronic intronic EDEM2 EDEM2 ENSG00000088298 Na Na Na Na Na Na Het;A>G 254;9|9 Ref Hom;A>G 300;0|8 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33734464 33734464 A G snp intronic EDEM2 Edem2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 rs6058193 0.19349 0 0 1 0 0 intronic intronic intronic EDEM2 EDEM2 ENSG00000088298 Na Na Na Na Na Na Het;A>G 39;3|2 Ref Hom;A>G 217;0|6 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33734493 33734493 G A snp intronic EDEM2 Edem2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 rs1415771 0.449481 0 0 1 0 0 intronic intronic intronic EDEM2 EDEM2 ENSG00000088298 Na Na Na Na Na Na Het;G>A 55;8|3 Ref Hom;G>A 281;0|8 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33734905 33734905 G C snp UTR5 -183C>G EDEM2 Edem2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 rs945959 0.449481 0.4942 0.4362 1 0 0 intronic UTR5 intronic EDEM2 EDEM2(uc010zut.1:c.-183C>G,uc002xbn.2:c.-9189C>G) ENSG00000088298 Na Na Na Na Na Na Het;G>C 2319;151|109 Het;G>C 2298;118|109 Hom;G>C 6006;0|208 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33762489 33762489 C T snp intronic PROCR Procr ENSG00000101000 protein C receptor chr20:33759876-33765165 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] cerebrovascular disease, ischemic; myocardial infarct; atherosclerosis, coronary; Blood Coagulation Factors; Myocardial Infarction; Venous Thromboembolism; stroke; sepsis; Venous Thrombosis; pregnancy loss; fibrin fragment D; cardiovascular risk; thromboembolism, venous; protein C; Blood Coagulation Factor Inhibitors; null; thrombosis, venous; Cerebral Palsy; Anticoagulants; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; pregnancy loss, recurrent; Cerebral Palsy|; beta-thalassemia; fetal loss, late; thrombosis; Type 2 Diabetes| edema | rosiglitazone; thromboembolism, venous; thrombosis, deep vein; Pregnancy Complications, Hematologic|Venous Thrombosis; atherosclerosis, coronary; Hearing Loss, Sudden|Thrombosis; Protein C; unexplained foetal loss ; thrombophilia, venous; plasma coagulation factors Nullizygous embryos die by E10.5 showing placental thrombosis, small size, and incomplete turning. Mice with a severe deficiency survive and reproduce normally. Homozygotes for the R84A variant show increased thrombin formation after thrombotic and LPS challenge, splenomegaly, and bone marrow failure. Cell surface interactions at the vascular wall GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS GO:0005576;extracellular region;TAS|GO:0005813;centrosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PROCR https://www.uniprot.org/uniprot/Q9UNN8 https://www.ncbi.nlm.nih.gov/omim/?term=600646 http://www.informatics.jax.org/searchtool/Search.do?query=PROCR&submit=Quick%0D%2636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROCR rs2069948 0.60603 0.6427 0.5690 1 0 0 intronic intronic intronic PROCR EDEM2,PROCR ENSG00000088298,ENSG00000101000 Na Na Na Na Na Na Het;C>T 1496;63|64 Het;C>T 1288;53|56 Hom;C>T 2339;0|80 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33762854 33762854 A G snp intronic PROCR Procr ENSG00000101000 protein C receptor chr20:33759876-33765165 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] cerebrovascular disease, ischemic; myocardial infarct; atherosclerosis, coronary; Blood Coagulation Factors; Myocardial Infarction; Venous Thromboembolism; stroke; sepsis; Venous Thrombosis; pregnancy loss; fibrin fragment D; cardiovascular risk; thromboembolism, venous; protein C; Blood Coagulation Factor Inhibitors; null; thrombosis, venous; Cerebral Palsy; Anticoagulants; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; pregnancy loss, recurrent; Cerebral Palsy|; beta-thalassemia; fetal loss, late; thrombosis; Type 2 Diabetes| edema | rosiglitazone; thromboembolism, venous; thrombosis, deep vein; Pregnancy Complications, Hematologic|Venous Thrombosis; atherosclerosis, coronary; Hearing Loss, Sudden|Thrombosis; Protein C; unexplained foetal loss ; thrombophilia, venous; plasma coagulation factors Nullizygous embryos die by E10.5 showing placental thrombosis, small size, and incomplete turning. Mice with a severe deficiency survive and reproduce normally. Homozygotes for the R84A variant show increased thrombin formation after thrombotic and LPS challenge, splenomegaly, and bone marrow failure. Cell surface interactions at the vascular wall GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS GO:0005576;extracellular region;TAS|GO:0005813;centrosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PROCR https://www.uniprot.org/uniprot/Q9UNN8 https://www.ncbi.nlm.nih.gov/omim/?term=600646 http://www.informatics.jax.org/searchtool/Search.do?query=PROCR&submit=Quick%0D%2636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROCR rs945960 0.607428 0 0 1 0 0 intronic intronic intronic PROCR EDEM2,PROCR ENSG00000088298,ENSG00000101000 Na Na Na Na Na Na Het;A>G 285;15|12 Het;A>G 318;16|11 Hom;A>G 354;0|14 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33763951 33763951 C T snp intronic PROCR Procr ENSG00000101000 protein C receptor chr20:33759876-33765165 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] cerebrovascular disease, ischemic; myocardial infarct; atherosclerosis, coronary; Blood Coagulation Factors; Myocardial Infarction; Venous Thromboembolism; stroke; sepsis; Venous Thrombosis; pregnancy loss; fibrin fragment D; cardiovascular risk; thromboembolism, venous; protein C; Blood Coagulation Factor Inhibitors; null; thrombosis, venous; Cerebral Palsy; Anticoagulants; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; pregnancy loss, recurrent; Cerebral Palsy|; beta-thalassemia; fetal loss, late; thrombosis; Type 2 Diabetes| edema | rosiglitazone; thromboembolism, venous; thrombosis, deep vein; Pregnancy Complications, Hematologic|Venous Thrombosis; atherosclerosis, coronary; Hearing Loss, Sudden|Thrombosis; Protein C; unexplained foetal loss ; thrombophilia, venous; plasma coagulation factors Nullizygous embryos die by E10.5 showing placental thrombosis, small size, and incomplete turning. Mice with a severe deficiency survive and reproduce normally. Homozygotes for the R84A variant show increased thrombin formation after thrombotic and LPS challenge, splenomegaly, and bone marrow failure. Cell surface interactions at the vascular wall GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS GO:0005576;extracellular region;TAS|GO:0005813;centrosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PROCR https://www.uniprot.org/uniprot/Q9UNN8 https://www.ncbi.nlm.nih.gov/omim/?term=600646 http://www.informatics.jax.org/searchtool/Search.do?query=PROCR&submit=Quick%0D%2636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROCR rs2069952 0.607029 0.6433 0.5687 1 0 0 intronic intronic intronic PROCR EDEM2,PROCR ENSG00000088298,ENSG00000101000 Na Na Na Na Na Na Het;C>T 517;25|21 Het;C>T 203;26|11 Hom;C>T 1190;0|42 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33764632 33764632 C G snp UTR3 *16C>G PROCR Procr ENSG00000101000 protein C receptor chr20:33759876-33765165 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] cerebrovascular disease, ischemic; myocardial infarct; atherosclerosis, coronary; Blood Coagulation Factors; Myocardial Infarction; Venous Thromboembolism; stroke; sepsis; Venous Thrombosis; pregnancy loss; fibrin fragment D; cardiovascular risk; thromboembolism, venous; protein C; Blood Coagulation Factor Inhibitors; null; thrombosis, venous; Cerebral Palsy; Anticoagulants; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; pregnancy loss, recurrent; Cerebral Palsy|; beta-thalassemia; fetal loss, late; thrombosis; Type 2 Diabetes| edema | rosiglitazone; thromboembolism, venous; thrombosis, deep vein; Pregnancy Complications, Hematologic|Venous Thrombosis; atherosclerosis, coronary; Hearing Loss, Sudden|Thrombosis; Protein C; unexplained foetal loss ; thrombophilia, venous; plasma coagulation factors Nullizygous embryos die by E10.5 showing placental thrombosis, small size, and incomplete turning. Mice with a severe deficiency survive and reproduce normally. Homozygotes for the R84A variant show increased thrombin formation after thrombotic and LPS challenge, splenomegaly, and bone marrow failure. Cell surface interactions at the vascular wall GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS GO:0005576;extracellular region;TAS|GO:0005813;centrosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PROCR https://www.uniprot.org/uniprot/Q9UNN8 https://www.ncbi.nlm.nih.gov/omim/?term=600646 http://www.informatics.jax.org/searchtool/Search.do?query=PROCR&submit=Quick%0D%2636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROCR rs9574 0.605631 0.6425 0.5807 1 0 0 UTR3 UTR3 UTR3 PROCR(NM_006404:c.*16C>G) PROCR(uc002xbt.3:c.*16C>G) ENSG00000101000(ENST00000216968:c.*16C>G) Na Na Na Na Na Na Het;C>G 820;46|40 Het;C>G 798;40|38 Hom;C>G 2282;0|85 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33834708 33834708 G A snp synonymous SNV G312A A104A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MMP24 Mmp24 ENSG00000125966 matrix metallopeptidase 24 chr20:33814457-33864801 This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). [provided by RefSeq, Feb 2016] Attention Deficit Disorder with Hyperactivity; height; Hepatitis C, Chronic|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Height; ADHD | attention-deficit hyperactivity disorder Mice homozygous for disruptions in this gene fail to develop neuropathic pain after peripheral nerve injury. They also experience reduced stress and enhanced mechanical coordination. Activation of Matrix Metalloproteinases GO:0006508;proteolysis;TAS|GO:0007155;cell adhesion;IEA|GO:0010001;glial cell differentiation;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0044331;cell-cell adhesion mediated by cadherin;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:0098742;cell-cell adhesion via plasma-membrane adhesion molecules;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0032588;trans-Golgi network membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004222;metalloendopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0045296;cadherin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP24 https://www.uniprot.org/uniprot/Q9Y5R2 https://www.ncbi.nlm.nih.gov/omim/?term=604871 http://www.informatics.jax.org/searchtool/Search.do?query=MMP24&submit=Quick%0D%5888ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP24 rs3764733 0.147165 0.1726 0.1815 1 0 0 exonic exonic exonic MMP24 MMP24 ENSG00000125966 synonymous SNV synonymous SNV unknown MMP24:NM_006690:exon2:c.G312A:p.A104A, MMP24:uc002xbu.2:exon2:c.G312A:p.A104A, UNKNOWN Het;G>A 3975;180|189 Het;G>A 3296;133|157 Hom;G>A 8387;4|321 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33859675 33859675 C T snp ncRNA_intronic MMP24-AS1 ENSG00000126005 MMP24 antisense RNA 1 chr20:33804265-33865934 http://www.genecards.org/index.php?path=/Search/keyword/MMP24-AS1 https://www.uniprot.org/uniprot/A0A0U1RRL7 http://www.informatics.jax.org/searchtool/Search.do?query=MMP24-AS1&submit=Quick%0D%5901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP24-AS1 rs11696548 0.105232 0.1196 0.1617 1 0 0 intronic intronic ncRNA_intronic MMP24 EDEM2,MMP24 ENSG00000126005,ENSG00000261582 Na Na Na Na Na Na Het;C>T 1254;46|51 Het;C>T 858;48|38 Hom;C>T 2081;0|76 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33864484 33864484 A G snp ncRNA_exonic MMP24-AS1 ENSG00000126005 MMP24 antisense RNA 1 chr20:33804265-33865934 http://www.genecards.org/index.php?path=/Search/keyword/MMP24-AS1 https://www.uniprot.org/uniprot/A0A0U1RRL7 http://www.informatics.jax.org/searchtool/Search.do?query=MMP24-AS1&submit=Quick%0D%5901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP24-AS1 rs7280 0.571486 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MMP24-AS1 MMP24-AS1 ENSG00000126005 Na Na Na Na Na Na Het;A>G 2302;73|94 Het;A>G 1087;77|53 Hom;A>G 3400;1|125 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 33894463 33894463 A G snp UTR3 *193T>C UQCC1 Uqcc1 ENSG00000101019 ubiquinol-cytochrome c reductase complex assembly factor 1 chr20:33890369-33999944 This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Height; Body Height; Acquired Immunodeficiency Syndrome|Disease Progression; skeletal frame size; height GO:0034551;mitochondrial respiratory chain complex III assembly;IDA|GO:0070131;positive regulation of mitochondrial translation;IDA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UQCC1 https://www.uniprot.org/uniprot/Q9NVA1 https://www.ncbi.nlm.nih.gov/omim/?term=611797 http://www.informatics.jax.org/searchtool/Search.do?query=UQCC1&submit=Quick%0D%2640ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UQCC1 rs878639 0.496206 0.4972 0.4325 1 0 0 intronic intronic UTR3 UQCC1 UQCC ENSG00000101019(ENST00000542501:c.*193T>C) Na Na Na Na Na Na Het;A>G 591;31|27 Het;A>G 520;30|28 Hom;A>G 1302;0|49 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34022387 34022387 A C snp nonsynonymous SNV T826G S276A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral GDF5 Gdf5 ENSG00000125965 growth differentiation factor 5 chr20:34021145-34042568 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] Fractures, Bone|Osteoarthritis|Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Osteoarthritis; Osteoarthritis, Hip|Osteoarthritis, Knee; Height; Hip Dislocation, Congenital; Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee; height; Osteoarthritis, Knee; Body Weight|Osteoarthritis, Knee; Bone Mineral Density; osteoarthritis Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. Molecules associated with elastic fibres GO:0002062;chondrocyte differentiation;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007267;cell-cell signaling;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0035136;forelimb morphogenesis;IEA|GO:0035137;hindlimb morphogenesis;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043932;ossification involved in bone remodeling;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0048468;cell development;IBA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0051216;cartilage development;IEA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060591;chondroblast differentiation;IDA|GO:2001054;negative regulation of mesenchymal cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0036122;BMP binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GDF5 https://www.uniprot.org/uniprot/P43026 https://hpo.jax.org/app/browse/search?q=GDF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601146 http://www.informatics.jax.org/searchtool/Search.do?query=GDF5&submit=Quick%0D%5887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF5 rs224331 0.383986 0.3691 0.3701 1 0 0 exonic exonic exonic GDF5 GDF5,GDF5OS ENSG00000125965,ENSG00000204183 nonsynonymous SNV nonsynonymous SNV unknown GDF5:NM_000557:exon2:c.T826G:p.S276A, GDF5:uc002xck.1:exon2:c.T826G:p.S276A,GDF5:uc010gfc.1:exon2:c.T826G:p.S276A, UNKNOWN Het;A>C 1060;38|42 Het;A>C 599;38|28 Hom;A>C 1705;0|59 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34025756 34025756 A G snp UTR5 -48T>C GDF5 Gdf5 ENSG00000125965 growth differentiation factor 5 chr20:34021145-34042568 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] Fractures, Bone|Osteoarthritis|Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Osteoarthritis; Osteoarthritis, Hip|Osteoarthritis, Knee; Height; Hip Dislocation, Congenital; Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee; height; Osteoarthritis, Knee; Body Weight|Osteoarthritis, Knee; Bone Mineral Density; osteoarthritis Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. Molecules associated with elastic fibres GO:0002062;chondrocyte differentiation;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007267;cell-cell signaling;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0035136;forelimb morphogenesis;IEA|GO:0035137;hindlimb morphogenesis;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043932;ossification involved in bone remodeling;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0048468;cell development;IBA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0051216;cartilage development;IEA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060591;chondroblast differentiation;IDA|GO:2001054;negative regulation of mesenchymal cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0036122;BMP binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GDF5 https://www.uniprot.org/uniprot/P43026 https://hpo.jax.org/app/browse/search?q=GDF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601146 http://www.informatics.jax.org/searchtool/Search.do?query=GDF5&submit=Quick%0D%5887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF5 rs143384 0.561102 0.5825 0.4744 1 0 0 UTR5 UTR5 UTR5 GDF5(NM_000557:c.-48T>C) GDF5(uc010gfc.1:c.-48T>C,uc002xck.1:c.-48T>C) ENSG00000125965(ENST00000374372:c.-48T>C,ENST00000374369:c.-48T>C) Na Na Na Na Na Na Het;A>G 748;39|29 Het;A>G 877;42|37 Hom;A>G 1609;0|56 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34025983 34025983 A G snp UTR5 -275T>C GDF5 Gdf5 ENSG00000125965 growth differentiation factor 5 chr20:34021145-34042568 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] Fractures, Bone|Osteoarthritis|Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Osteoarthritis; Osteoarthritis, Hip|Osteoarthritis, Knee; Height; Hip Dislocation, Congenital; Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee; height; Osteoarthritis, Knee; Body Weight|Osteoarthritis, Knee; Bone Mineral Density; osteoarthritis Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. Molecules associated with elastic fibres GO:0002062;chondrocyte differentiation;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007267;cell-cell signaling;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0035136;forelimb morphogenesis;IEA|GO:0035137;hindlimb morphogenesis;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043932;ossification involved in bone remodeling;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0048468;cell development;IBA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0051216;cartilage development;IEA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060591;chondroblast differentiation;IDA|GO:2001054;negative regulation of mesenchymal cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0036122;BMP binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GDF5 https://www.uniprot.org/uniprot/P43026 https://hpo.jax.org/app/browse/search?q=GDF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601146 http://www.informatics.jax.org/searchtool/Search.do?query=GDF5&submit=Quick%0D%5887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF5 rs143383 0.546526 0 0 1 0 0 upstream UTR5 UTR5 GDF5 GDF5(uc002xck.1:c.-275T>C) ENSG00000125965(ENST00000374369:c.-275T>C) Na Na Na Na Na Na Het;A>G 497;13|22 Het;A>G 401;8|16 Hom;A>G 1089;0|37 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34054729 34054729 T C snp intronic CEP250 Cep250 ENSG00000126001 centrosomal protein 250 chr20:34042985-34099804 This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Height; Chronic renal failure|Kidney Failure, Chronic; breast cancer; height; Body Height AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IDA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0030997;regulation of centriole-centriole cohesion;IDA|GO:0033365;protein localization to organelle;IMP|GO:0097711;ciliary basal body docking;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP250 https://www.uniprot.org/uniprot/Q9BV73 https://hpo.jax.org/app/browse/search?q=CEP250&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609689 http://www.informatics.jax.org/searchtool/Search.do?query=CEP250&submit=Quick%0D%5899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP250 rs2296402 0.371006 0 0 1 0 0 intronic intronic intronic CEP250 CEP250 ENSG00000126001 Na Na Na Na Na Na Het;T>C 217;12|10 Het;T>C 32;5|2 Hom;T>C 433;0|17 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34055453 34055454 AG A indel intronic CEP250 Cep250 ENSG00000126001 centrosomal protein 250 chr20:34042985-34099804 This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Height; Chronic renal failure|Kidney Failure, Chronic; breast cancer; height; Body Height AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IDA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0030997;regulation of centriole-centriole cohesion;IDA|GO:0033365;protein localization to organelle;IMP|GO:0097711;ciliary basal body docking;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP250 https://www.uniprot.org/uniprot/Q9BV73 https://hpo.jax.org/app/browse/search?q=CEP250&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609689 http://www.informatics.jax.org/searchtool/Search.do?query=CEP250&submit=Quick%0D%5899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP250 rs397864716 0.401558 0 0 1 0 0 intronic intronic intronic CEP250 CEP250 ENSG00000126001 Na Na Na Na Na Na Het;-G 286;11|12 Het;-G 74;2|4 Hom;-G 257;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34090519 34090519 G A snp nonsynonymous SNV G2426A R809Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral CEP250 Cep250 ENSG00000126001 centrosomal protein 250 chr20:34042985-34099804 This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Height; Chronic renal failure|Kidney Failure, Chronic; breast cancer; height; Body Height AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IDA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0030997;regulation of centriole-centriole cohesion;IDA|GO:0033365;protein localization to organelle;IMP|GO:0097711;ciliary basal body docking;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP250 https://www.uniprot.org/uniprot/Q9BV73 https://hpo.jax.org/app/browse/search?q=CEP250&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609689 http://www.informatics.jax.org/searchtool/Search.do?query=CEP250&submit=Quick%0D%5899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP250 rs3748433 0.138179 0.1127 0.1115 0.08 1 13 exonic exonic exonic CEP250 CEP250 ENSG00000126001 nonsynonymous SNV nonsynonymous SNV unknown CEP250:NM_007186:exon30:c.G4322A:p.R1441Q, CEP250:uc010zve.2:exon28:c.G2426A:p.R809Q,CEP250:uc021wco.1:exon30:c.G4322A:p.R1441Q, UNKNOWN Het;G>A 1870;93|80 Het;G>A 1787;55|77 Hom;G>A 3381;3|124 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34096725 34096725 A G snp intronic CEP250 Cep250 ENSG00000126001 centrosomal protein 250 chr20:34042985-34099804 This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Height; Chronic renal failure|Kidney Failure, Chronic; breast cancer; height; Body Height AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IDA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0030997;regulation of centriole-centriole cohesion;IDA|GO:0033365;protein localization to organelle;IMP|GO:0097711;ciliary basal body docking;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP250 https://www.uniprot.org/uniprot/Q9BV73 https://hpo.jax.org/app/browse/search?q=CEP250&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609689 http://www.informatics.jax.org/searchtool/Search.do?query=CEP250&submit=Quick%0D%5899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP250 rs2236165 0.401957 0.3241 0.4016 1 0 0 intronic intronic intronic CEP250 CEP250 ENSG00000126001 Na Na Na Na Na Na Het;A>G 1047;41|39 Het;A>G 601;24|24 Hom;A>G 1093;0|38 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34109715 34109715 T C snp ncRNA_intronic FO393401.2 rs1810741 0.44988 0 0 1 0 0 intergenic intergenic ncRNA_intronic CEP250(dist=9912),C20orf173(dist=5084) CEP250(dist=9912),C20orf173(dist=5084) ENSG00000242507 Na Na Na Na Na Na Het;T>C 279;7|7 Het;T>C 362;8|10 Hom;T>C 555;0|11 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34109718 34109718 A G snp ncRNA_intronic FO393401.2 rs1810742 0.428714 0 0 1 0 0 intergenic intergenic ncRNA_intronic CEP250(dist=9915),C20orf173(dist=5081) CEP250(dist=9915),C20orf173(dist=5081) ENSG00000242507 Na Na Na Na Na Na Het;A>G 276;8|8 Het;A>G 362;10|10 Hom;A>G 591;0|15 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34116282 34116282 T C snp nonsynonymous SNV A580G K194E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) C20orf173 6430550D23Rik ENSG00000125975 chromosome 20 open reading frame 173 chr20:34111014-34117481 GO:0009311;oligosaccharide metabolic process;IBA|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA GO:0047288;monosialoganglioside sialyltransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/C20orf173 https://www.uniprot.org/uniprot/Q96LM9 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf173&submit=Quick%0D%5893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf173 rs7261862 0.227636 0.2052 0.2366 0.08 1 12 exonic exonic exonic C20orf173 C20orf173 ENSG00000125975 nonsynonymous SNV nonsynonymous SNV unknown C20orf173:NM_001145350:exon4:c.A580G:p.K194E, C20orf173:uc010zvf.1:exon4:c.A580G:p.K194E,C20orf173:uc002xcp.2:exon3:c.A421G:p.K141E, UNKNOWN Het;T>C 1571;77|69 Het;T>C 1459;65|64 Hom;T>C 3903;2|149 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34142257 34142257 C T snp intronic ERGIC3 Ergic3 ENSG00000125991 ERGIC and golgi 3 chr20:34129770-34145405 GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERGIC3 https://www.uniprot.org/uniprot/Q9Y282 https://www.ncbi.nlm.nih.gov/omim/?term=616971 http://www.informatics.jax.org/searchtool/Search.do?query=ERGIC3&submit=Quick%0D%5895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERGIC3 rs60267524 0.192492 0 0 1 0 0 intronic intronic intronic ERGIC3 ERGIC3 ENSG00000125991 Na Na Na Na Na Na Het;C>T 428;22|20 Het;C>T 450;18|17 Hom;C>T 799;0|30 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34142287 34142287 G A snp intronic ERGIC3 Ergic3 ENSG00000125991 ERGIC and golgi 3 chr20:34129770-34145405 GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERGIC3 https://www.uniprot.org/uniprot/Q9Y282 https://www.ncbi.nlm.nih.gov/omim/?term=616971 http://www.informatics.jax.org/searchtool/Search.do?query=ERGIC3&submit=Quick%0D%5895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERGIC3 rs17092784 0.188898 0 0 1 0 0 intronic intronic intronic ERGIC3 ERGIC3 ENSG00000125991 Na Na Na Na Na Na Het;G>A 176;10|9 Het;G>A 192;10|8 Hom;G>A 409;0|13 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34142670 34142670 T G snp intronic ERGIC3 Ergic3 ENSG00000125991 ERGIC and golgi 3 chr20:34129770-34145405 GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERGIC3 https://www.uniprot.org/uniprot/Q9Y282 https://www.ncbi.nlm.nih.gov/omim/?term=616971 http://www.informatics.jax.org/searchtool/Search.do?query=ERGIC3&submit=Quick%0D%5895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERGIC3 rs73283830 0.192492 0 0 1 0 0 intronic intronic intronic ERGIC3 ERGIC3 ENSG00000125991 Na Na Na Na Na Na Het;T>G 193;6|7 Ref Hom;T>G 184;0|6 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34143092 34143092 A G snp intronic ERGIC3 Ergic3 ENSG00000125991 ERGIC and golgi 3 chr20:34129770-34145405 GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERGIC3 https://www.uniprot.org/uniprot/Q9Y282 https://www.ncbi.nlm.nih.gov/omim/?term=616971 http://www.informatics.jax.org/searchtool/Search.do?query=ERGIC3&submit=Quick%0D%5895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERGIC3 rs224419 0.366813 0 0 1 0 0 intronic intronic intronic ERGIC3 ERGIC3 ENSG00000125991 Na Na Na Na Na Na Het;A>G 71;6|3 Ref Hom;A>G 145;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34147998 34147998 A G snp nonsynonymous SNV T307C W103R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) FER1L4 rs224424 0.39357 0 0.3910 1 0 0 ncRNA_exonic exonic ncRNA_exonic FER1L4 FER1L4 ENSG00000088340 Na nonsynonymous SNV Na Na FER1L4:uc002xcx.3:exon4:c.T307C:p.W103R, Na Het;A>G 2504;122|119 Het;A>G 2210;123|106 Hom;A>G 5167;4|199 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34148488 34148488 G A snp ncRNA_intronic FER1L4 rs8115363 0.189497 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic FER1L4 FER1L4 ENSG00000088340 Na Na Na Na Na Na Het;G>A 298;6|9 Het;G>A 162;10|7 Hom;G>A 470;0|15 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34152018 34152018 A T snp ncRNA_exonic FER1L4 rs224429 0.390974 0 0 1 0 0 ncRNA_exonic UTR5;UTR3 ncRNA_exonic FER1L4 FER1L4(uc002xcx.3:c.-2326T>A);FER1L4(uc010gfg.1:c.*612T>A) ENSG00000088340 Na Na Na Na Na Na Het;A>T 453;14|20 Het;A>T 305;12|11 Hom;A>T 756;2|28 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34152782 34152782 C T snp nonsynonymous SNV G1993A V665I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FER1L4 rs2277862 0.188898 0 0.2283 1 0 0 ncRNA_exonic exonic ncRNA_exonic FER1L4 FER1L4 ENSG00000088340 Na nonsynonymous SNV Na Na FER1L4:uc010gfg.1:exon16:c.G1993A:p.V665I, Na Het;C>T 1315;46|53 Het;C>T 847;47|36 Hom;C>T 2120;0|78 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34167382 34167382 G A snp synonymous SNV C1020T P340P hydrophobic,neutral hydrophobic,neutral FER1L4 rs8116470 0.188898 0 0.2882 1 0 0 ncRNA_intronic exonic ncRNA_intronic FER1L4 FER1L4 ENSG00000088340 Na synonymous SNV Na Na FER1L4:uc010gfg.1:exon8:c.C1020T:p.P340P, Na Het;G>A 693;29|30 Het;G>A 693;31|32 Hom;G>A 1902;0|66 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34171324 34171324 G A snp ncRNA_intronic FER1L4 rs6088887 0.190296 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic FER1L4 FER1L4 ENSG00000088340 Na Na Na Na Na Na Het;G>A 414;20|16 Het;G>A 159;9|7 Hom;G>A 660;0|19 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34240740 34240740 A AGGGCCG indel nonframeshift substitution 2505_2505delinsCGGCCCT RBM12 Rbm12 ENSG00000244462 RNA binding motif protein 12 chr20:34236847-34252878 This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010] Mice homozygous for an ENU mutation exhibit open neural tube and embryonic growth retardation. GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBM12 https://www.ncbi.nlm.nih.gov/omim/?term=607179 http://www.informatics.jax.org/searchtool/Search.do?query=RBM12&submit=Quick%0D%19847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM12 rs201181145 0 0.0568 0.0560 1 0 0 exonic exonic exonic RBM12 RBM12 ENSG00000244462 nonframeshift substitution nonframeshift substitution unknown RBM12:NM_001198838:exon3:c.2505_2505delinsCGGCCCT,RBM12:NM_001198840:exon2:c.2505_2505delinsCGGCCCT,RBM12:NM_006047:exon3:c.2505_2505delinsCGGCCCT,RBM12:NM_152838:exon3:c.2505_2505delinsCGGCCCT, RBM12:uc021wcr.1:exon1:c.2505_2505delinsCGGCCCT,RBM12:uc002xdq.3:exon3:c.2505_2505delinsCGGCCCT,RBM12:uc021wcq.1:exon3:c.2505_2505delinsCGGCCCT,RBM12:uc002xds.3:exon2:c.2505_2505delinsCGGCCCT,RBM12:uc002xdr.3:exon3:c.2505_2505delinsCGGCCCT, UNKNOWN Het;+GGGCCG 2734;86|70 Het;+GGGCCG 2184;62|58 Hom;+GGGCCG 4163;0|89 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34457566 34457566 T G snp intronic PHF20 Phf20 ENSG00000025293 PHD finger protein 20 chr20:34359896-34538303 Cholesterol, LDL; Cholesterol Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. Stabilization of p53 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031965;nuclear membrane;IDA|GO:0071339;MLL1 complex;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/PHF20 https://www.uniprot.org/uniprot/Q9BVI0 https://www.ncbi.nlm.nih.gov/omim/?term=610335 http://www.informatics.jax.org/searchtool/Search.do?query=PHF20&submit=Quick%0D%699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF20 rs77808860 0.0145767 0 0 1 0 0 intronic intronic intronic PHF20 PHF20 ENSG00000025293 Na Na Na Na Na Na Het;T>G 504;21|22 Het;T>G 523;11|22 Hom;T>G 1109;0|36 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34571846 34571846 T C snp intronic CNBD2 Cnbd2 ENSG00000149646 cyclic nucleotide binding domain containing 2 chr20:34556512-34618622 Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. GO:0007283;spermatogenesis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0000166;nucleotide binding;IEA|GO:0030552;cAMP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNBD2 https://www.uniprot.org/uniprot/Q96M20 http://www.informatics.jax.org/searchtool/Search.do?query=CNBD2&submit=Quick%0D%9268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD2 rs6058388 0.360024 0 0 1 0 0 intronic intronic intronic CNBD2 CNBD2 ENSG00000149646 Na Na Na Na Na Na Het;T>C 453;48|24 Het;T>C 407;29|19 Hom;T>C 1869;0|65 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34589995 34589995 T C snp intronic CNBD2 Cnbd2 ENSG00000149646 cyclic nucleotide binding domain containing 2 chr20:34556512-34618622 Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. GO:0007283;spermatogenesis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0000166;nucleotide binding;IEA|GO:0030552;cAMP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNBD2 https://www.uniprot.org/uniprot/Q96M20 http://www.informatics.jax.org/searchtool/Search.do?query=CNBD2&submit=Quick%0D%9268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD2 rs2440940 0.277756 0 0 1 0 0 intronic intronic intronic CNBD2 CNBD2 ENSG00000149646 Na Na Na Na Na Na Het;T>C 85;3|5 Het;T>C 34;2|2 Hom;T>C 146;0|7 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34596371 34596371 C T snp nonsynonymous SNV C1123T P375S hydrophobic,neutral polar,hydrophilic,neutral CNBD2 Cnbd2 ENSG00000149646 cyclic nucleotide binding domain containing 2 chr20:34556512-34618622 Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. GO:0007283;spermatogenesis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0000166;nucleotide binding;IEA|GO:0030552;cAMP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNBD2 https://www.uniprot.org/uniprot/Q96M20 http://www.informatics.jax.org/searchtool/Search.do?query=CNBD2&submit=Quick%0D%9268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD2 rs6060750 0.309904 0.2364 0.2429 0.38 5 13 exonic exonic exonic CNBD2 CNBD2 ENSG00000149646 nonsynonymous SNV nonsynonymous SNV unknown CNBD2:NM_001207076:exon9:c.C1123T:p.P375S,CNBD2:NM_080834:exon9:c.C1123T:p.P375S, CNBD2:uc002xer.1:exon9:c.C1123T:p.P375S,CNBD2:uc002xes.1:exon9:c.C1123T:p.P375S, UNKNOWN Het;C>T 819;29|37 Het;C>T 802;51|40 Hom;C>T 1638;2|64 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34611450 34611451 GA G indel intronic CNBD2 Cnbd2 ENSG00000149646 cyclic nucleotide binding domain containing 2 chr20:34556512-34618622 Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. GO:0007283;spermatogenesis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0000166;nucleotide binding;IEA|GO:0030552;cAMP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNBD2 https://www.uniprot.org/uniprot/Q96M20 http://www.informatics.jax.org/searchtool/Search.do?query=CNBD2&submit=Quick%0D%9268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD2 rs11477706 0.42472 0 0 1 0 0 intronic intronic intronic CNBD2 CNBD2 ENSG00000149646 Na Na Na Na Na Na Het;-A 257;12|14 Het;-A 43;5|4 Hom;-A 386;0|16 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34633899 34633899 C T snp ncRNA_exonic LINC00657 rs9620 0.226637 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00657 LINC00657(uc002xet.3:c.*4415G>A) ENSG00000260032 Na Na Na Na Na Na Het;C>T 708;73|36 Het;C>T 1376;54|63 Hom;C>T 4047;0|149 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34635221 34635221 C T snp ncRNA_exonic LINC00657 rs6142495 0.301118 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00657 LINC00657(uc002xet.3:c.*3093G>A) ENSG00000260032 Na Na Na Na Na Na Het;C>T 396;18|16 Het;C>T 356;22|16 Hom;C>T 809;0|30 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34635441 34635441 T G snp ncRNA_exonic LINC00657 rs7265718 0.233027 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00657 LINC00657(uc002xet.3:c.*2873A>C) ENSG00000260032 Na Na Na Na Na Na Het;T>G 964;76|52 Het;T>G 1392;58|70 Hom;T>G 3852;3|156 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34636281 34636281 C T snp ncRNA_exonic LINC00657 rs3171389 0.224441 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00657 LINC00657(uc002xet.3:c.*2033G>A) ENSG00000260032 Na Na Na Na Na Na Het;C>T 1363;61|59 Het;C>T 1605;57|69 Hom;C>T 3851;2|141 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34637634 34637634 G A snp ncRNA_exonic LINC00657 rs7261967 0.224641 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00657 LINC00657(uc002xet.3:c.*680C>T) ENSG00000260032 Na Na Na Na Na Na Het;G>A 2820;139|126 Het;G>A 2883;102|130 Hom;G>A 8613;2|315 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34638055 34638055 G A snp ncRNA_exonic LINC00657 rs58443785 0.232428 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC00657 LINC00657(uc002xet.3:c.*259C>T) ENSG00000260032 Na Na Na Na Na Na Het;G>A 2055;111|87 Het;G>A 2086;79|90 Hom;G>A 4648;4|172 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 34775551 34775551 A G snp intronic EPB41L1 Epb41l1 ENSG00000088367 erythrocyte membrane protein band 4.1 like 1 chr20:34679426-34820721 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] Bulimia Mice homozygous for a null allele exhibit no obvious phenotypic abnormalities. Neurexins and neuroligins GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L1 https://www.uniprot.org/uniprot/Q9H4G0 https://hpo.jax.org/app/browse/search?q=EPB41L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602879 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L1&submit=Quick%0D%1999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L1 rs2247688 0.397364 0.3884 0.2966 1 0 0 intronic intronic intronic EPB41L1 EPB41L1 ENSG00000088367 Na Na Na Na Na Na Het;A>G 614;28|25 Het;A>G 536;32|23 Hom;A>G 804;2|28 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 35127575 35127575 T TTG indel UTR5 -1049T>TTG DLGAP4 Dlgap4 ENSG00000080845 DLG associated protein 4 chr20:34894258-35157040 The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] several psychiatric disorders Mice homozygous for a null allele display impaired dendrite morphology, increased mean postsynaptic density area, and impaired vocal communication and social interaction. Neurexins and neuroligins GO:0023052;signaling;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DLGAP4 https://www.uniprot.org/uniprot/Q9Y2H0 https://www.ncbi.nlm.nih.gov/omim/?term=616191 http://www.informatics.jax.org/searchtool/Search.do?query=DLGAP4&submit=Quick%0D%1748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLGAP4 rs112196751 0.024361 0 0 1 0 0 intronic UTR5 intronic DLGAP4 DLGAP4(uc002xfj.3:c.-1049T>TTG) ENSG00000080845 Na Na Na Na Na Na Het;+TG 196;10|8 Het;+TG 326;21|13 Hom;+TG 465;0|14 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 35280268 35280268 T C snp UTR3 *1655A>G NDRG3 Ndrg3 ENSG00000101079 NDRG family member 3 chr20:35280169-35374481 the NDRG3 mRNA was localized to the outer layers of seminiferous epithelium, indicating that it may play a role in spermatogenesis. Homozygous mutation of this gene results in lethality before weaning. Mice heterozygous for another null allele exhibit reduced male fertility due to impaired double strand break repair in spermatocytes. GO:0007283;spermatogenesis;NAS|GO:0030154;cell differentiation;NAS|GO:0030308;negative regulation of cell growth;NAS|GO:0007283;spermatogenesis;NAS|GO:0030154;cell differentiation;NAS|GO:0030308;negative regulation of cell growth;NAS GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/NDRG3 https://www.uniprot.org/uniprot/Q9UGV2 https://www.ncbi.nlm.nih.gov/omim/?term=605273 http://www.informatics.jax.org/searchtool/Search.do?query=NDRG3&submit=Quick%0D%96ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDRG3 rs221306 0.0389377 0 0 1 0 0 UTR3 UTR3 UTR3 NDRG3(NM_032013:c.*1655A>G,NM_022477:c.*1655A>G) NDRG3(uc002xfw.3:c.*1655A>G,uc002xfx.3:c.*1655A>G,uc010zvq.2:c.*1655A>G,uc010zvr.2:c.*1655A>G) ENSG00000101079(ENST00000349004:c.*1655A>G,ENST00000359675:c.*1655A>G,ENST00000373803:c.*1655A>G) Na Na Na Na Na Na Het;T>C 2250;128|97 Het;T>C 1976;87|85 Hom;T>C 4992;0|173 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 36022154 36022154 T C snp intronic SRC Src ENSG00000197122 SRC proto-oncogene, non-receptor tyrosine kinase chr20:35973088-36034453 This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] HIV; Weight Gain; thyroid cancer; Bone Mineral Density Homozygotes for a targeted null mutation exhibit growth retardation, failure of tooth eruption, osteopetrosis with lack of secondary bone resorption, and lethality at 3-4 weeks. Regulation of RUNX3 expression and activity GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007172;signal complex assembly;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IBA|GO:0008283;cell proliferation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010641;positive regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010907;positive regulation of glucose metabolic process;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030168;platelet activation;TAS|GO:0030520;intracellular estrogen receptor signaling pathway;IBA|GO:0030900;forebrain development;IEA|GO:0031295;T cell costimulation;TAS|GO:0031648;protein destabilization;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031954;positive regulation of protein autophosphorylation;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0032463;negative regulation of protein homooligomerization;IMP|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033625;positive regulation of integrin activation;TAS|GO:0034332;adherens junction organization;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0036035;osteoclast development;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043114;regulation of vascular permeability;TAS|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043393;regulation of protein binding;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045056;transcytosis;IEA|GO:0045087;innate immune response;IBA|GO:0045124;regulation of bone resorption;TAS|GO:0045453;bone resorption;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048477;oogenesis;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IC|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IMP|GO:0051222;positive regulation of protein transport;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051726;regulation of cell cycle;IBA|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051902;negative regulation of mitochondrial depolarization;IMP|GO:0051974;negative regulation of telomerase activity;IMP|GO:0060065;uterus development;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060491;regulation of cell projection assembly;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070542;response to fatty acid;IEA|GO:0070555;response to interleukin-1;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071393;cellular response to progesterone stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071801;regulation of podosome assembly;IBA|GO:0071803;positive regulation of podosome assembly;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0086098;angiotensin-activated signaling pathway involved in heart process;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP|GO:2000573;positive regulation of DNA biosynthetic process;IEA|GO:2000641;regulation of early endosome to late endosome transport;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001286;regulation of caveolin-mediated endocytosis;IMP|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007172;signal complex assembly;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IBA|GO:0008283;cell proliferation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010641;positive regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010907;positive regulation of glucose metabolic process;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030168;platelet activation;TAS|GO:0030520;intracellular estrogen receptor signaling pathway;IBA|GO:0030900;forebrain development;IEA|GO:0031295;T cell costimulation;TAS|GO:0031648;protein destabilization;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031954;positive regulation of protein autophosphorylation;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0032463;negative regulation of protein homooligomerization;IMP|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033625;positive regulation of integrin activation;TAS|GO:0034332;adherens junction organization;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0036035;osteoclast development;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043114;regulation of vascular permeability;TAS|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043393;regulation of protein binding;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045056;transcytosis;IEA|GO:0045087;innate immune response;IBA|GO:0045124;regulation of bone resorption;TAS|GO:0045453;bone resorption;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048477;oogenesis;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IC|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IMP|GO:0051222;positive regulation of protein transport;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051726;regulation of cell cycle;IBA|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051902;negative regulation of mitochondrial depolarization;IMP|GO:0051974;negative regulation of telomerase activity;IMP|GO:0060065;uterus development;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060491;regulation of cell projection assembly;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070542;response to fatty acid;IEA|GO:0070555;response to interleukin-1;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071393;cellular response to progesterone stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071801;regulation of podosome assembly;IBA|GO:0071803;positive regulation of podosome assembly;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0086098;angiotensin-activated signaling pathway involved in heart process;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP|GO:2000573;positive regulation of DNA biosynthetic process;IEA|GO:2000641;regulation of early endosome to late endosome transport;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001286;regulation of caveolin-mediated endocytosis;IMP GO:0002102;podosome;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005764;lysosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005080;protein kinase C binding;IEA|GO:0005102;receptor binding;IPI|GO:0005158;insulin receptor binding;IEA|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0020037;heme binding;IDA|GO:0030331;estrogen receptor binding;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0042169;SH2 domain binding;IPI|GO:0044325;ion channel binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0050839;cell adhesion molecule binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0051427;hormone receptor binding;IBA|GO:0070851;growth factor receptor binding;IPI|GO:0071253;connexin binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRC https://www.uniprot.org/uniprot/P12931 https://hpo.jax.org/app/browse/search?q=SRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190090 http://www.informatics.jax.org/searchtool/Search.do?query=SRC&submit=Quick%0D%246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRC rs6018256 0.233027 0 0 1 0 0 intronic intronic intronic SRC SRC ENSG00000197122 Na Na Na Na Na Na Het;T>C 256;7|9 Het;T>C 146;8|5 Hom;T>C 350;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 36028831 36028831 T C snp intronic SRC Src ENSG00000197122 SRC proto-oncogene, non-receptor tyrosine kinase chr20:35973088-36034453 This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] HIV; Weight Gain; thyroid cancer; Bone Mineral Density Homozygotes for a targeted null mutation exhibit growth retardation, failure of tooth eruption, osteopetrosis with lack of secondary bone resorption, and lethality at 3-4 weeks. Regulation of RUNX3 expression and activity GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007172;signal complex assembly;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IBA|GO:0008283;cell proliferation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010641;positive regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010907;positive regulation of glucose metabolic process;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030168;platelet activation;TAS|GO:0030520;intracellular estrogen receptor signaling pathway;IBA|GO:0030900;forebrain development;IEA|GO:0031295;T cell costimulation;TAS|GO:0031648;protein destabilization;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031954;positive regulation of protein autophosphorylation;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0032463;negative regulation of protein homooligomerization;IMP|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033625;positive regulation of integrin activation;TAS|GO:0034332;adherens junction organization;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0036035;osteoclast development;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043114;regulation of vascular permeability;TAS|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043393;regulation of protein binding;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045056;transcytosis;IEA|GO:0045087;innate immune response;IBA|GO:0045124;regulation of bone resorption;TAS|GO:0045453;bone resorption;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048477;oogenesis;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IC|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IMP|GO:0051222;positive regulation of protein transport;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051726;regulation of cell cycle;IBA|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051902;negative regulation of mitochondrial depolarization;IMP|GO:0051974;negative regulation of telomerase activity;IMP|GO:0060065;uterus development;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060491;regulation of cell projection assembly;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070542;response to fatty acid;IEA|GO:0070555;response to interleukin-1;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071393;cellular response to progesterone stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071801;regulation of podosome assembly;IBA|GO:0071803;positive regulation of podosome assembly;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0086098;angiotensin-activated signaling pathway involved in heart process;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP|GO:2000573;positive regulation of DNA biosynthetic process;IEA|GO:2000641;regulation of early endosome to late endosome transport;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001286;regulation of caveolin-mediated endocytosis;IMP|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007172;signal complex assembly;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IBA|GO:0008283;cell proliferation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010641;positive regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010907;positive regulation of glucose metabolic process;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030168;platelet activation;TAS|GO:0030520;intracellular estrogen receptor signaling pathway;IBA|GO:0030900;forebrain development;IEA|GO:0031295;T cell costimulation;TAS|GO:0031648;protein destabilization;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031954;positive regulation of protein autophosphorylation;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0032463;negative regulation of protein homooligomerization;IMP|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033625;positive regulation of integrin activation;TAS|GO:0034332;adherens junction organization;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0036035;osteoclast development;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043114;regulation of vascular permeability;TAS|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043393;regulation of protein binding;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045056;transcytosis;IEA|GO:0045087;innate immune response;IBA|GO:0045124;regulation of bone resorption;TAS|GO:0045453;bone resorption;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048477;oogenesis;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IC|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IMP|GO:0051222;positive regulation of protein transport;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051726;regulation of cell cycle;IBA|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051902;negative regulation of mitochondrial depolarization;IMP|GO:0051974;negative regulation of telomerase activity;IMP|GO:0060065;uterus development;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060491;regulation of cell projection assembly;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070542;response to fatty acid;IEA|GO:0070555;response to interleukin-1;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071393;cellular response to progesterone stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071801;regulation of podosome assembly;IBA|GO:0071803;positive regulation of podosome assembly;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0086098;angiotensin-activated signaling pathway involved in heart process;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP|GO:2000573;positive regulation of DNA biosynthetic process;IEA|GO:2000641;regulation of early endosome to late endosome transport;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001286;regulation of caveolin-mediated endocytosis;IMP GO:0002102;podosome;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005764;lysosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005080;protein kinase C binding;IEA|GO:0005102;receptor binding;IPI|GO:0005158;insulin receptor binding;IEA|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0020037;heme binding;IDA|GO:0030331;estrogen receptor binding;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0042169;SH2 domain binding;IPI|GO:0044325;ion channel binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0050839;cell adhesion molecule binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0051427;hormone receptor binding;IBA|GO:0070851;growth factor receptor binding;IPI|GO:0071253;connexin binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRC https://www.uniprot.org/uniprot/P12931 https://hpo.jax.org/app/browse/search?q=SRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190090 http://www.informatics.jax.org/searchtool/Search.do?query=SRC&submit=Quick%0D%246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRC rs1570209 0.236022 0 0 1 0 0 intronic intronic intronic SRC SRC ENSG00000197122 Na Na Na Na Na Na Het;T>C 97;2|4 Het;T>C 138;6|7 Hom;T>C 276;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 36231517 36231517 G C snp ncRNA_exonic GLRXP1 rs6066990 0.49361 0 0 1 0 0 intergenic intergenic ncRNA_exonic BLCAP(dist=75184),LINC00489(dist=16183) BLCAP(dist=75184),LINC00489(dist=16183) ENSG00000228234 Na Na Na Na Na Na Het;G>C 216;4|8 Het;G>C 66;4|3 Hom;G>C 545;0|22 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 36250523 36250523 A C snp ncRNA_exonic LINC00489 rs6019769 0.689097 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00489 LINC00489 ENSG00000225759 Na Na Na Na Na Na Het;A>C 225;19|10 Het;A>C 447;2|17 Hom;A>C 638;0|25 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 36784237 36784237 C T snp intronic TGM2 Tgm2 ENSG00000198959 transglutaminase 2 chr20:36756863-36794980 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] celiac disease; Type 2 diabetes; Exfoliation Syndrome|Glaucoma, Open-Angle; schizophrenia A homozygous null mutation causes alterations in glucose and aerobic energy metabolism, tumor growth, and response to myocardial infarction, liver injury, and LPS-induced sepsis. A second null mutation confers resistance to renal injury, while a third one alters cell adhesion and T cell physiology. GO:0001974;blood vessel remodeling;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0018149;peptide cross-linking;IEA|GO:0018153;isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine;IEA|GO:0032471;negative regulation of endoplasmic reticulum calcium ion concentration;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043277;apoptotic cell clearance;IDA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0051561;positive regulation of mitochondrial calcium ion concentration;IMP|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0060662;salivary gland cavitation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019904;protein domain specific binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM2 https://www.ncbi.nlm.nih.gov/omim/?term=190196 http://www.informatics.jax.org/searchtool/Search.do?query=TGM2&submit=Quick%0D%17100ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM2 rs45561138 0.00279553 0.0036 0.0052 1 0 0 intronic intronic intronic TGM2 TGM2 ENSG00000198959 Na Na Na Na Na Na Het;C>T 228;23|13 Het;C>T 289;12|14 Hom;C>T 1269;0|47 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 36959582 36959582 G A snp intronic BPI Bpi ENSG00000101425 bactericidal/permeability-increasing protein chr20:36888551-36965907 This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014] Meningeal Neoplasms|meningioma; sepsis; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; periodontal disease; myocardial infarct; Mental Disorders; Crohn's disease; ulcerative colitis; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Sepsis|Systemic infection; Heart Rate; bladder cancer; Nonsurvivors of sepsis (male only) Antimicrobial peptides GO:0006955;immune response;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032717;negative regulation of interleukin-8 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043031;negative regulation of macrophage activation;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0050829;defense response to Gram-negative bacterium;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPI https://www.uniprot.org/uniprot/P17213 https://www.ncbi.nlm.nih.gov/omim/?term=109195 http://www.informatics.jax.org/searchtool/Search.do?query=BPI&submit=Quick%0D%2734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPI rs5743539 0.0147764 0 0 1 0 0 intronic intronic intronic BPI BPI ENSG00000101425 Na Na Na Na Na Na Het;G>A 792;30|31 Het;G>A 482;31|22 Hom;G>A 1521;0|49 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 38553518 38553518 C T snp intergenic LOC339568 rs73126544 0.172724 0 0 1 0 0 intergenic intergenic intergenic LOC339568(dist=700127),LINC01370(dist=79585) Mir_584(dist=653218),SNORD112(dist=491997) ENSG00000229976(dist=111647),ENSG00000234878(dist=8046) Na Na Na Na Na Na Het;C>T 168;6|7 Ref Hom;C>T 408;0|12 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 38634973 38634973 G A snp ncRNA_exonic LINC01370 rs6101806 0.161342 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01370 Mir_584(dist=734673),SNORD112(dist=410542) ENSG00000237767 Na Na Na Na Na Na Het;G>A 946;90|49 Het;G>A 1911;118|93 Hom;G>A 5352;4|205 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 38637057 38637057 G A snp ncRNA_exonic LINC01370 rs79097236 0.048123 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01370 Mir_584(dist=736757),SNORD112(dist=408458) ENSG00000237767 Na Na Na Na Na Na Het;G>A 1183;56|51 Het;G>A 1376;36|58 Hom;G>A 2612;0|94 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 39728988 39728988 T C snp ncRNA_intronic BC035080 rs73121296 0.0285543 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic PLCG1-AS1 BC035080 ENSG00000226648 Na Na Na Na Na Na Het;T>C 59;12|4 Het;T>C 252;3|9 Hom;T>C 220;0|7 N N - 20 401205 401205 A T snp intronic RBCK1 Rbck1 ENSG00000125826 RANBP2-type and C3HC4-type zinc finger containing 1 chr20:388142-411610 The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008] POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY Mice homozygous for a knock-out allele exhibit increased TNF-induced hepatocyte apoptosis. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016032;viral process;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0042346;positive regulation of NF-kappaB import into nucleus;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IMP|GO:0050852;T cell receptor signaling pathway;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0060546;negative regulation of necroptotic process;IEA|GO:0097039;protein linear polyubiquitination;IDA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA GO:0005829;cytosol;TAS|GO:0071797;LUBAC complex;IDA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0043130;ubiquitin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RBCK1 https://www.uniprot.org/uniprot/Q9BYM8 https://hpo.jax.org/app/browse/search?q=RBCK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610924 http://www.informatics.jax.org/searchtool/Search.do?query=RBCK1&submit=Quick%0D%5848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBCK1 rs4635591 0.685703 0 0 1 0 0 intronic intronic intronic RBCK1 RBCK1 ENSG00000125826 Na Na Na Na Na Na Het;A>T 72;3|5 Het;A>T 203;4|9 Hom;A>T 104;0|4 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 40979430 40979430 C T snp intronic PTPRT Ptprt ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT rs929071 0.42512 0 0 1 0 0 intronic intronic intronic PTPRT PTPRT ENSG00000196090 Na Na Na Na Na Na Het;C>T 980;35|41 Het;C>T 1048;31|40 Hom;C>T 1699;0|61 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 41028833 41028834 TG T indel intronic PTPRT Ptprt ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT rs3092420 0.295927 0 0 1 0 0 intronic intronic intronic PTPRT PTPRT ENSG00000196090 Na Na Na Na Na Na Het;-G 144;2|5 Ref Hom;-G 498;0|14 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 41076751 41076751 T A snp intronic PTPRT Ptprt ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT rs2076082 0.519569 0 0 1 0 0 intronic intronic intronic PTPRT PTPRT ENSG00000196090 Na Na Na Na Na Na Het;T>A 33;6|3 Het;T>A 154;15|7 Hom;T>A 546;0|18 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 41316883 41316883 C T snp ncRNA_exonic LOC101927159 rs6030410 0.119609 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101927159 BC040166 ENSG00000229042 Na Na Na Na Na Na Het;C>T 1283;59|56 Het;C>T 1192;61|49 Hom;C>T 3053;1|107 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 41317234 41317234 T C snp intronic PTPRT Ptprt ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT rs2425526 0.247204 0 0 1 0 0 intronic intronic intronic PTPRT PTPRT ENSG00000196090 Na Na Na Na Na Na Het;T>C 480;31|20 Het;T>C 765;21|32 Hom;T>C 1084;1|42 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 41351134 41351134 G C snp intronic PTPRT Ptprt ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT rs4812637 0.11242 0 0 1 0 0 intronic intronic intronic PTPRT PTPRT ENSG00000196090 Na Na Na Na Na Na Het;G>C 826;71|40 Het;G>C 597;60|33 Hom;G>C 1575;2|63 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 41351203 41351203 G C snp intronic PTPRT Ptprt ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT rs4812638 0.233626 0 0 1 0 0 intronic intronic intronic PTPRT PTPRT ENSG00000196090 Na Na Na Na Na Na Het;G>C 864;60|41 Het;G>C 570;54|31 Hom;G>C 1783;2|65 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 42159696 42159696 C G snp UTR5 -1747C>G L3MBTL1 L3mbtl1 ENSG00000185513 L3MBTL1, histone methyl-lysine binding protein chr20:42136320-42179590 This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Mice homozygous for a knock-out allele exhibit normal nervous system phenotype, hematopoietic system phenotype, immune system phenotype, cellular phenotype, and lifespan. Regulation of TP53 Activity through Methylation GO:0006325;chromatin organization;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007088;regulation of mitotic nuclear division;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0030097;hemopoiesis;IEP|GO:0045652;regulation of megakaryocyte differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051726;regulation of cell cycle;NAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000785;chromatin;IDA|GO:0000793;condensed chromosome;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031491;nucleosome binding;IDA|GO:0031493;nucleosomal histone binding;IDA|GO:0032093;SAM domain binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0042393;histone binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/L3MBTL1 https://www.ncbi.nlm.nih.gov/omim/?term=608802 http://www.informatics.jax.org/searchtool/Search.do?query=L3MBTL1&submit=Quick%0D%15428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=L3MBTL1 rs41303935 0.157149 0 0 1 0 0 intronic UTR5 intronic L3MBTL1 L3MBTL1(uc002xko.4:c.-1747C>G) ENSG00000185513 Na Na Na Na Na Na Het;C>G 160;3|5 Het;C>G 99;2|5 Hom;C>G 139;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 42275452 42275452 A G snp intronic IFT52 Ift52 ENSG00000101052 intraflagellar transport 52 chr20:42219571-42275936 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10. Intraflagellar transport GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA GO:0008022;protein C-terminus binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/IFT52 https://www.uniprot.org/uniprot/Q9Y366 https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617094 http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52 rs549527428 0.00139776 0 0 1 0 0 intronic intronic intronic IFT52 IFT52 ENSG00000101052 Na Na Na Na Na Na Het;A>G 285;13|12 Het;A>G 209;8|8 Hom;A>G 239;0|8 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43285017 43285017 G A snp downstream LINC01260 rs6065739 0.545527 0 0 1 0 0 downstream downstream downstream LINC01260 LOC79015 ENSG00000132832 Na Na Na Na Na Na Het;G>A 242;4|9 Het;G>A 171;4|6 Hom;G>A 197;0|5 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43378770 43378770 A G snp nonsynonymous SNV A284G E95G polar,hydrophilic,charged(-) aliphatic,neutral KCNK15 Kcnk15 ENSG00000124249 potassium two pore domain channel subfamily K member 15 chr20:43374421-43379675 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNK15 https://www.uniprot.org/uniprot/Q9H427 https://www.ncbi.nlm.nih.gov/omim/?term=607368 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15 rs1111032 0.606829 0.5797 0.5397 0.30 3 10 exonic exonic exonic KCNK15 KCNK15 ENSG00000124249 nonsynonymous SNV nonsynonymous SNV unknown KCNK15:NM_022358:exon2:c.A284G:p.E95G, KCNK15:uc002xmr.3:exon2:c.A284G:p.E95G, UNKNOWN Het;A>G 940;72|41 Het;A>G 672;56|33 Hom;A>G 3385;0|125 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43379264 43379264 A C snp nonsynonymous SNV A778C T260P polar,hydrophilic,neutral hydrophobic,neutral KCNK15 Kcnk15 ENSG00000124249 potassium two pore domain channel subfamily K member 15 chr20:43374421-43379675 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNK15 https://www.uniprot.org/uniprot/Q9H427 https://www.ncbi.nlm.nih.gov/omim/?term=607368 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15 rs6073538 0.607228 0.5371 0.5347 0.10 1 10 exonic exonic exonic KCNK15 KCNK15 ENSG00000124249 nonsynonymous SNV nonsynonymous SNV unknown KCNK15:NM_022358:exon2:c.A778C:p.T260P, KCNK15:uc002xmr.3:exon2:c.A778C:p.T260P, UNKNOWN Het;A>C 900;39|25 Het;A>C 1234;24|32 Hom;A>C 2369;0|54 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43379268 43379268 C A snp nonsynonymous SNV C782A P261H hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) KCNK15 Kcnk15 ENSG00000124249 potassium two pore domain channel subfamily K member 15 chr20:43374421-43379675 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNK15 https://www.uniprot.org/uniprot/Q9H427 https://www.ncbi.nlm.nih.gov/omim/?term=607368 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15 rs13037900 0.0990415 0 0.1002 0.17 2 12 exonic exonic exonic KCNK15 KCNK15 ENSG00000124249 nonsynonymous SNV nonsynonymous SNV unknown KCNK15:NM_022358:exon2:c.C782A:p.P261H, KCNK15:uc002xmr.3:exon2:c.C782A:p.P261H, UNKNOWN Het;C>A 912;37|25 Het;C>A 1234;24|32 Hom;C>A 2356;0|54 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43379454 43379454 T C snp nonsynonymous SNV T968C L323P aliphatic,hydrophobic,neutral hydrophobic,neutral KCNK15 Kcnk15 ENSG00000124249 potassium two pore domain channel subfamily K member 15 chr20:43374421-43379675 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNK15 https://www.uniprot.org/uniprot/Q9H427 https://www.ncbi.nlm.nih.gov/omim/?term=607368 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15 rs13042905 0.598243 0.6000 0.5789 0.10 1 10 exonic exonic exonic KCNK15 KCNK15 ENSG00000124249 nonsynonymous SNV nonsynonymous SNV unknown KCNK15:NM_022358:exon2:c.T968C:p.L323P, KCNK15:uc002xmr.3:exon2:c.T968C:p.L323P, UNKNOWN Het;T>C 848;41|38 Het;T>C 754;53|33 Hom;T>C 1948;0|73 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43534934 43534934 G A snp intronic YWHAB Ywhab ENSG00000166913 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta chr20:43514317-43537173 This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] systemic lupus erythematosus; Autism Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex GO:0000165;MAPK cascade;TAS|GO:0006605;protein targeting;IEA|GO:0016032;viral process;IEA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043488;regulation of mRNA stability;TAS|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051220;cytoplasmic sequestering of protein;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:0000165;MAPK cascade;TAS|GO:0006605;protein targeting;IEA|GO:0016032;viral process;IEA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043488;regulation of mRNA stability;TAS|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051220;cytoplasmic sequestering of protein;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0042470;melanosome;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032403;protein complex binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0050815;phosphoserine binding;IPI|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YWHAB https://www.uniprot.org/uniprot/P31946 https://www.ncbi.nlm.nih.gov/omim/?term=601289 http://www.informatics.jax.org/searchtool/Search.do?query=YWHAB&submit=Quick%0D%203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAB rs2425675 0.239217 0 0 1 0 0 intronic intronic intronic YWHAB YWHAB ENSG00000166913 Na Na Na Na Na Na Het;G>A 248;13|9 Het;G>A 455;22|18 Hom;G>A 867;0|27 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43547677 43547677 T G snp nonsynonymous SNV T634G S212A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PABPC1L Pabpc1l ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L rs2075960 0.23143 0.2218 0.2465 0.46 6 13 exonic exonic exonic PABPC1L PABPC1L ENSG00000101104 nonsynonymous SNV nonsynonymous SNV unknown PABPC1L:NM_001124756:exon4:c.T634G:p.S212A, PABPC1L:uc010ggv.1:exon4:c.T634G:p.S212A, UNKNOWN Het;T>G 3100;127|132 Het;T>G 2422;126|115 Hom;T>G 5479;2|209 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43559043 43559043 G T snp intronic PABPC1L Pabpc1l ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L rs3746580 0.226837 0 0 1 0 0 intronic intronic intronic PABPC1L PABPC1L ENSG00000101104 Na Na Na Na Na Na Het;G>T 544;23|23 Het;G>T 340;19|14 Hom;G>T 830;0|26 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43560482 43560482 G A snp UTR5 -1239G>A PABPC1L Pabpc1l ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L rs4812873 0.408746 0 0 1 0 0 intronic intronic UTR5 PABPC1L PABPC1L ENSG00000101104(ENST00000372824:c.-1239G>A) Na Na Na Na Na Na Het;G>A 1350;38|57 Het;G>A 1003;51|47 Hom;G>A 1963;2|71 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43565622 43565622 G A snp intronic PABPC1L Pabpc1l ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L rs3746584 0.210863 0 0.2011 1 0 0 intronic intronic intronic PABPC1L PABPC1L ENSG00000101104 Na Na Na Na Na Na Het;G>A 855;74|42 Het;G>A 1859;73|82 Hom;G>A 3033;0|111 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43566787 43566787 A G snp synonymous SNV A1731G S577S polar,hydrophilic,neutral polar,hydrophilic,neutral PABPC1L Pabpc1l ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L rs11780 0.446685 0.4440 0.3923 0.25 2 8 exonic exonic exonic PABPC1L PABPC1L ENSG00000101104 synonymous SNV synonymous SNV unknown PABPC1L:NM_001124756:exon13:c.A1731G:p.S577S, PABPC1L:uc002xmw.2:exon4:c.A393G:p.S131S,PABPC1L:uc002xmx.3:exon4:c.A393G:p.S131S,PABPC1L:uc010ggv.1:exon13:c.A1731G:p.S577S, UNKNOWN Het;A>G 298;16|14 Het;A>G 375;17|19 Hom;A>G 804;0|30 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43577620 43577620 C G snp intronic TOMM34 Tomm34 ENSG00000025772 translocase of outer mitochondrial membrane 34 chr20:43570771-43589127 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration Homozygous null mice are fertile and males do not display any defects in the testes or in spermatogenesis. GO:0006626;protein targeting to mitochondrion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TOMM34 https://www.uniprot.org/uniprot/Q15785 https://www.ncbi.nlm.nih.gov/omim/?term=616049 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM34&submit=Quick%0D%704ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM34 rs2234206 0.341653 0 0 1 0 0 intronic intronic intronic TOMM34 PABPC1L,TOMM34 ENSG00000025772,ENSG00000101104 Na Na Na Na Na Na Het;C>G 269;5|10 Het;C>G 36;3|2 Hom;C>G 323;0|11 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43577644 43577644 C T snp intronic TOMM34 Tomm34 ENSG00000025772 translocase of outer mitochondrial membrane 34 chr20:43570771-43589127 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration Homozygous null mice are fertile and males do not display any defects in the testes or in spermatogenesis. GO:0006626;protein targeting to mitochondrion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TOMM34 https://www.uniprot.org/uniprot/Q15785 https://www.ncbi.nlm.nih.gov/omim/?term=616049 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM34&submit=Quick%0D%704ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM34 rs1884440 0.508187 0 0 1 0 0 intronic intronic intronic TOMM34 PABPC1L,TOMM34 ENSG00000025772,ENSG00000101104 Na Na Na Na Na Na Het;C>T 143;4|5 Ref Hom;C>T 246;0|8 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43587568 43587569 CA C indel UTR3 *604_*605delinsC PABPC1L Pabpc1l ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L rs5841576 0 0 0 1 0 0 intronic UTR3 UTR3 TOMM34 PABPC1L(uc002xmx.3:c.*604_*605delinsC) ENSG00000101104(ENST00000372819:c.*641_*642delinsC) Na Na Na Na Na Na Het;-A 452;26|37 Het;-A 404;18|31 Hom;-A 1084;7|59 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43589041 43589041 G A snp UTR5 -67C>T TOMM34 Tomm34 ENSG00000025772 translocase of outer mitochondrial membrane 34 chr20:43570771-43589127 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration Homozygous null mice are fertile and males do not display any defects in the testes or in spermatogenesis. GO:0006626;protein targeting to mitochondrion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TOMM34 https://www.uniprot.org/uniprot/Q15785 https://www.ncbi.nlm.nih.gov/omim/?term=616049 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM34&submit=Quick%0D%704ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM34 rs2234197 0.156749 0 0 1 0 0 UTR5 UTR5 UTR5 TOMM34(NM_006809:c.-67C>T) TOMM34(uc002xmy.3:c.-67C>T) ENSG00000025772(ENST00000372813:c.-67C>T) Na Na Na Na Na Na Het;G>A 81;20|7 Het;G>A 72;8|5 Hom;G>A 275;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43653810 43653810 G A snp intronic STK4 Stk4 ENSG00000101109 serine/threonine kinase 4 chr20:43595115-43708600 The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008] Neuroblastoma; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder Mice homozygous for a gene trap allele have low numbers of nave T cells that are hyper-responsive to stimulation. Mice homozygous for knock-out alleles exhibit decreased peripheral T cell numbers due to impaired emigration and homing. Signaling by Hippo GO:0000902;cell morphogenesis;IDA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001841;neural tube formation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003157;endocardium development;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IDA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0046621;negative regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0050821;protein stabilization;IDA|GO:0060215;primitive hemopoiesis;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0060800;regulation of cell differentiation involved in embryonic placenta development;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097284;hepatocyte apoptotic process;IEA|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0043234;protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IGI|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008134;transcription factor binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043539;protein serine/threonine kinase activator activity;TAS|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/STK4 https://www.uniprot.org/uniprot/Q13043 https://hpo.jax.org/app/browse/search?q=STK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604965 http://www.informatics.jax.org/searchtool/Search.do?query=STK4&submit=Quick%0D%2652ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK4 rs13044852 0.0183706 0.0285 0.0313 1 0 0 intronic intronic intronic STK4 STK4 ENSG00000101109 Na Na Na Na Na Na Het;G>A 122;15|7 Het;G>A 317;6|16 Hom;G>A 386;0|15 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 43803725 43803725 T A snp intronic PI3 ENSG00000124102 peptidase inhibitor 3 chr20:43803517-43805185 This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014] Hepatopulmonary Syndrome|Liver Cirrhosis; psoriasis; Respiratory Distress Syndrome, Adult Formation of the cornified envelope GO:0007620;copulation;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0018149;peptide cross-linking;IDA|GO:0019730;antimicrobial humoral response;TAS|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0030280;structural constituent of epidermis;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PI3 https://www.uniprot.org/uniprot/P19957 https://www.ncbi.nlm.nih.gov/omim/?term=182257 http://www.informatics.jax.org/searchtool/Search.do?query=PI3&submit=Quick%0D%5587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PI3 rs1983649 0.515176 0 0 1 0 0 intronic intronic intronic PI3 PI3 ENSG00000124102 Na Na Na Na Na Na Het;T>A 249;6|10 Ref Hom;T>A 320;0|10 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44005936 44005936 C T snp nonsynonymous SNV G170A R57H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) TP53TG5 Trp53tg5 ENSG00000124251 TP53 target 5 chr20:44002526-44036529 GO:0030308;negative regulation of cell growth;NAS|GO:0035556;intracellular signal transduction;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TP53TG5 https://www.uniprot.org/uniprot/Q9Y2B4 https://www.ncbi.nlm.nih.gov/omim/?term=617316 http://www.informatics.jax.org/searchtool/Search.do?query=TP53TG5&submit=Quick%0D%5634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53TG5 rs2231616 0.201278 0.1193 0.1801 0.08 1 13 exonic exonic exonic TP53TG5 TP53TG5 ENSG00000124251 nonsynonymous SNV nonsynonymous SNV unknown TP53TG5:NM_014477:exon3:c.G170A:p.R57H, TP53TG5:uc002xny.3:exon3:c.G170A:p.R57H, UNKNOWN Het;C>T 718;67|40 Het;C>T 881;50|44 Hom;C>T 2114;2|83 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44034985 44034985 G C snp UTR5 -107G>C DBNDD2 Dbndd2 ENSG00000244274 dysbindin domain containing 2 chr20:44034697-44039250 GO:0006469;negative regulation of protein kinase activity;IDA GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DBNDD2 https://www.ncbi.nlm.nih.gov/omim/?term=611453 http://www.informatics.jax.org/searchtool/Search.do?query=DBNDD2&submit=Quick%0D%19838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBNDD2 rs2743259 0.235224 0 0 1 0 0 ncRNA_intronic UTR5 UTR5 SYS1-DBNDD2 DBNDD2(uc002xob.3:c.-107G>C) ENSG00000244274(ENST00000372720:c.-107G>C) Na Na Na Na Na Na Het;G>C 76;8|5 Het;G>C 240;7|10 Hom;G>C 283;0|9 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44184498 44184498 A G snp nonsynonymous SNV T287C M96T hydrophobic,neutral polar,hydrophilic,neutral WFDC8 Wfdc8 ENSG00000158901 WAP four-disulfide core domain 8 chr20:44179792-44207965 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC8 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC8&submit=Quick%0D%10270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC8 rs2272955 0.103435 0.0940 0.0736 0.15 2 13 exonic exonic exonic WFDC8 WFDC8 ENSG00000158901 nonsynonymous SNV nonsynonymous SNV unknown WFDC8:NM_181510:exon4:c.T287C:p.M96T,WFDC8:NM_130896:exon4:c.T287C:p.M96T, WFDC8:uc002xox.3:exon4:c.T287C:p.M96T,WFDC8:uc002xow.3:exon4:c.T287C:p.M96T, UNKNOWN Het;A>G 800;44|36 Het;A>G 660;42|31 Hom;A>G 1322;0|50 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44238741 44238741 T G snp nonsynonymous SNV A80C N27T polar,hydrophilic,neutral polar,hydrophilic,neutral WFDC9 Wfdc9 ENSG00000180205 WAP four-disulfide core domain 9 chr20:44236578-44259907 The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Mental Competency GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC9 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC9&submit=Quick%0D%14444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC9 rs2245898 0.393371 0.3505 0.3539 0.08 1 12 exonic exonic exonic WFDC9 WFDC9 ENSG00000180205 nonsynonymous SNV nonsynonymous SNV unknown WFDC9:NM_147198:exon3:c.A80C:p.N27T, WFDC9:uc002xoy.3:exon3:c.A80C:p.N27T, UNKNOWN Het;T>G 946;44|44 Het;T>G 943;44|41 Hom;T>G 2219;0|83 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44259490 44259490 G A snp intronic WFDC10A ENSG00000180305 WAP four-disulfide core domain 10A chr20:44258165-44259835 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC10A http://www.informatics.jax.org/searchtool/Search.do?query=WFDC10A&submit=Quick%0D%14459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC10A rs1487323 0.38758 0.3461 0.3593 1 0 0 intronic intronic intronic WFDC10A,WFDC9 WFDC10A,WFDC9 ENSG00000180205,ENSG00000180305 Na Na Na Na Na Na Het;G>A 856;44|38 Het;G>A 838;36|36 Hom;G>A 1785;0|67 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44259673 44259673 G T snp UTR3 *16G>T WFDC10A ENSG00000180305 WAP four-disulfide core domain 10A chr20:44258165-44259835 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC10A http://www.informatics.jax.org/searchtool/Search.do?query=WFDC10A&submit=Quick%0D%14459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC10A rs1487322 0.372604 0.3402 0.3389 1 0 0 UTR3 UTR3 UTR3 WFDC10A(NM_080753:c.*16G>T) WFDC10A(uc002xoz.3:c.*16G>T) ENSG00000180305(ENST00000372643:c.*16G>T) Na Na Na Na Na Na Het;G>T 1442;118|71 Het;G>T 1329;100|65 Hom;G>T 4051;0|150 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44269982 44269982 T C snp ncRNA_exonic RPS2P7 rs2425731 0.397764 0 0 1 0 0 intergenic intergenic ncRNA_exonic WFDC9(dist=10075),WFDC11(dist=7220) WFDC9(dist=10075),WFDC11(dist=7220) ENSG00000235508 Na Na Na Na Na Na Het;T>C 37;6|3 Ref Hom;T>C 162;0|7 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44333326 44333327 CT C indel intronic WFDC10B ENSG00000182931 WAP four-disulfide core domain 10B chr20:44313292-44333658 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA GO:0005576;extracellular region;IEA GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC10B http://www.informatics.jax.org/searchtool/Search.do?query=WFDC10B&submit=Quick%0D%14883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC10B rs11361717 0.564297 0 0 1 0 0 intronic intronic intronic WFDC10B,WFDC13 WFDC10B,WFDC13 ENSG00000168634,ENSG00000182931 Na Na Na Na Na Na Het;-T 420;8|25 Het;-T 254;3|15 Hom;-T 417;0|20 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44539951 44539951 C G snp intronic PLTP Pltp ENSG00000100979 phospholipid transfer protein chr20:44527399-44540794 The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] HDL cholesterol; Hyperlipoproteinemias; Alzheimer's disease; plasma HDL cholesterol (HDL-C) levels; cholesterol, HDL cholesterol, LDL; Triglycerides; Hyperlipidemias; cholesterol, HDL; hypoalphalipoproteinemia; triglyceride; null; Type 2 diabetes; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; dementia; Lipoproteins, HDL; atherosclerosis; Lipid Metabolism; triglycerides; Cholesterol, HDL; obesity; Dyslipidemias|Syndrome Mice homozygous for disruptions in this gene have lower levels of circulating HDL and exhibit symptoms of dry eye syndrome such as corneal epithelial damage. HDL remodeling GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010189;vitamin E biosynthetic process;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0030317;flagellated sperm motility;IEA|GO:0034375;high-density lipoprotein particle remodeling;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLTP https://www.uniprot.org/uniprot/P55058 https://www.ncbi.nlm.nih.gov/omim/?term=172425 http://www.informatics.jax.org/searchtool/Search.do?query=PLTP&submit=Quick%0D%2628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLTP rs536481562 0.000399361 0 9.105e-05 1 0 0 intronic intronic intronic PLTP PLTP ENSG00000100979 Na Na Na Na Na Na Het;C>G 877;37|34 Het;C>G 532;17|24 Hom;C>G 1189;0|41 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44639511 44639511 C T snp intronic MMP9 Mmp9 ENSG00000100985 matrix metallopeptidase 9 chr20:44637547-44645200 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] restenosis; Pulmonary Disease, Chronic Obstructive; endometrial cancer; schizophrenia; Leukemia, Lymphocytic, Chronic, B-Cell; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; matrix metalloproteinase-9 activity; kidney failure, chronic; Cleft Lip|Cleft Palate; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; ovarian cancer; Peripheral Vascular Diseases; matrix metalloproteinase; cervical cancer; breast cancer ; Chronic Obstructive Pulmonary Disease; Multiple Sclerosis; gastric ulcer; Carcinoma, Squamous Cell|Esophageal Neoplasms|; aortic stiffness hypertension; Alzheimer's disease dementia, vascular; Chronic renal failure|Kidney Failure, Chronic; Long QT Syndrome; melanoma; Bone Mineral Density; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Inflammation|Premature Birth; acute coronary syndrome; nephropathy; Disease; asthma; angina; arterial stiffness; bone density; Airway Remodeling|Nasal Polyps|Recurrence|Sinusitis; Coronary Artery Disease; longevity myocardial infarct; Atherosclerosis; Coronary Artery Disease|Disease Susceptibility|Myocardial Infarction; Pre-Eclampsia; Bronchiectasis|; Lymphatic Metastasis|Stomach Neoplasms; Coronary Disease|Coronary heart disease; lung function; coronary artery disease; restenosis; chronic obstructive pulmonary disease/COPD; Tuberculosis, Pulmonary; patent ductus arteriosus; left ventricular remodeling; Acute Coronary Syndrome|Inflammation; glaucoma, primary open-angle; leukoaraiosis volume; coronary artery disease; COPD | Chronic obstructive Pulmonary Disease; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Hepatopulmonary Syndrome|Liver Cirrhosis; Hepatitis C, Chronic|Liver Cirrhosis; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; stroke; intrauterine growth; aneurysm; multiple sclerosis; bladder cancer; left ventricular dysfunction; Type 2 Diabetes| edema | rosiglitazone; abdominal aortic aneurysm; Amyotrophic Lateral Sclerosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cardiovascular Diseases; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Arteriosclerosis|Brain Ischemia|Carotid Artery Diseases|Cerebrovascular Disorders; myocardial infarct; atherosclerosis; Infection|Inflammation|Premature Birth; Behcet Syndrome; atherosclerosis, coronary; oral cancer; BMI; macular degeneration; Pelvic Organ Prolapse; Sjogren's syndrome; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; throracic aortic aneurysm throracic aortic dissection; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; rheumatoid arthritis; adenomyosis endometriosis; Glomerulonephritis, IGA; Endometriosis|Uterine Diseases; Moyamoya Disease; cognitive ability; Gingivitis; kidney aging; Fibrosis|Tuberculosis, Pulmonary; Carotid Artery, Internal, Dissection|; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; null; Crohn's disease ulcerative colitis; Osteoarthritis, Knee; Lupus Erythematosus, Systemic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; H. pylori infection stomach cancer; Carcinoma, Hepatocellular|Hepatitis C|Liver Neoplasms; dementia; plasma HDL cholesterol (HDL-C) levels; Brain Ischemia|Intracranial Hemorrhages|Myocardial Infarction|Stroke; atherosclerotic lesions; preterm delivery; Coronary Disease|; Spinal Diseases; Aortic Aneurysm, Abdominal; Alzheimer's Disease; brain aneurysm; prostate cancer; coronary disease; uterine leiomyoma; brain cancer; aortic dissection; myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; Duodenal Ulcer|Helicobacter Infections; nasopharyngeal cancer; chronic obstructive pulmonary disease/COPD; emphysema; periodontitis; carotid atherosclerosis; cervical artery dissection, spontaneous; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; hypertension; lung cancer; Alzheimer's disease ; Apoplexy|Stroke; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Diabetic Retinopathy|; Guillain-Barre Syndrome; Colorectal Neoplasms; spontaneous cervical artery dissection.; coronary artery lesions; diabetes, type 2; Bipolar Disorder | mood disorders; Intervertebral Disk Displacement; preeclampsia; Kidney Failure, Chronic; Myocardial Infarction; Hepatitis B; osseointegrated implant failure; Fetal Membrane Rupture; Scleroderma, Systemic|Systemic Scleroderma; esophageal adenocarcinoma; emphysema; brain hemorrhage; Atrial Fibrillation|Heart Diseases|Hypertension|Hypertrophy, Left Ventricular; renal graft function; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; lung cancer ; ocular Chlamydia trachomatis infection; bone mineral density; atherosclerosis, carotid; Lymphoma, Non-Hodgkin; Alcoholism; Neoplasms; Constriction, Pathologic|Graft Occlusion, Vascular; Periodontitis; Crohn Disease|Recurrence; breast cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; subarachnoid hemorrhage; Helicobacter Infections|Metaplasia; acute coronary syndrome atherosclerosis, coronary; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Recurrence; Duodenal Ulcer|Gastritis|Helicobacter Infections; Glaucoma, Angle-Closure; myelopathy/tropical spastic paraparesis; Giant Cell Arteritis; Endometriosis; Acquired Immunodeficiency Syndrome|Cardiovascular Diseases; Exfoliation Syndrome|Glaucoma, Open-Angle; colorectal cancer; stomach cancer Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. Neutrophil degranulation GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006508;proteolysis;IDA|GO:0007566;embryo implantation;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;IEA|GO:0030225;macrophage differentiation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0030574;collagen catabolic process;TAS|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0035987;endodermal cell differentiation;IEP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043388;positive regulation of DNA binding;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050900;leukocyte migration;IEA|GO:0051549;positive regulation of keratinocyte migration;IMP|GO:0071276;cellular response to cadmium ion;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:1900122;positive regulation of receptor binding;IDA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001258;negative regulation of cation channel activity;IDA|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP9 https://www.uniprot.org/uniprot/P14780 https://hpo.jax.org/app/browse/search?q=MMP9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120361 http://www.informatics.jax.org/searchtool/Search.do?query=MMP9&submit=Quick%0D%2631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP9 rs3918253 0.260583 0.4719 0.4334 1 0 0 intronic intronic intronic MMP9 MMP9 ENSG00000100985 Na Na Na Na Na Na Het;C>T 598;19|22 Het;C>T 273;8|10 Hom;C>T 1163;0|36 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44640959 44640959 G A snp intronic MMP9 Mmp9 ENSG00000100985 matrix metallopeptidase 9 chr20:44637547-44645200 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] restenosis; Pulmonary Disease, Chronic Obstructive; endometrial cancer; schizophrenia; Leukemia, Lymphocytic, Chronic, B-Cell; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; matrix metalloproteinase-9 activity; kidney failure, chronic; Cleft Lip|Cleft Palate; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; ovarian cancer; Peripheral Vascular Diseases; matrix metalloproteinase; cervical cancer; breast cancer ; Chronic Obstructive Pulmonary Disease; Multiple Sclerosis; gastric ulcer; Carcinoma, Squamous Cell|Esophageal Neoplasms|; aortic stiffness hypertension; Alzheimer's disease dementia, vascular; Chronic renal failure|Kidney Failure, Chronic; Long QT Syndrome; melanoma; Bone Mineral Density; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Inflammation|Premature Birth; acute coronary syndrome; nephropathy; Disease; asthma; angina; arterial stiffness; bone density; Airway Remodeling|Nasal Polyps|Recurrence|Sinusitis; Coronary Artery Disease; longevity myocardial infarct; Atherosclerosis; Coronary Artery Disease|Disease Susceptibility|Myocardial Infarction; Pre-Eclampsia; Bronchiectasis|; Lymphatic Metastasis|Stomach Neoplasms; Coronary Disease|Coronary heart disease; lung function; coronary artery disease; restenosis; chronic obstructive pulmonary disease/COPD; Tuberculosis, Pulmonary; patent ductus arteriosus; left ventricular remodeling; Acute Coronary Syndrome|Inflammation; glaucoma, primary open-angle; leukoaraiosis volume; coronary artery disease; COPD | Chronic obstructive Pulmonary Disease; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Hepatopulmonary Syndrome|Liver Cirrhosis; Hepatitis C, Chronic|Liver Cirrhosis; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; stroke; intrauterine growth; aneurysm; multiple sclerosis; bladder cancer; left ventricular dysfunction; Type 2 Diabetes| edema | rosiglitazone; abdominal aortic aneurysm; Amyotrophic Lateral Sclerosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cardiovascular Diseases; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Arteriosclerosis|Brain Ischemia|Carotid Artery Diseases|Cerebrovascular Disorders; myocardial infarct; atherosclerosis; Infection|Inflammation|Premature Birth; Behcet Syndrome; atherosclerosis, coronary; oral cancer; BMI; macular degeneration; Pelvic Organ Prolapse; Sjogren's syndrome; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; throracic aortic aneurysm throracic aortic dissection; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; rheumatoid arthritis; adenomyosis endometriosis; Glomerulonephritis, IGA; Endometriosis|Uterine Diseases; Moyamoya Disease; cognitive ability; Gingivitis; kidney aging; Fibrosis|Tuberculosis, Pulmonary; Carotid Artery, Internal, Dissection|; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; null; Crohn's disease ulcerative colitis; Osteoarthritis, Knee; Lupus Erythematosus, Systemic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; H. pylori infection stomach cancer; Carcinoma, Hepatocellular|Hepatitis C|Liver Neoplasms; dementia; plasma HDL cholesterol (HDL-C) levels; Brain Ischemia|Intracranial Hemorrhages|Myocardial Infarction|Stroke; atherosclerotic lesions; preterm delivery; Coronary Disease|; Spinal Diseases; Aortic Aneurysm, Abdominal; Alzheimer's Disease; brain aneurysm; prostate cancer; coronary disease; uterine leiomyoma; brain cancer; aortic dissection; myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; Duodenal Ulcer|Helicobacter Infections; nasopharyngeal cancer; chronic obstructive pulmonary disease/COPD; emphysema; periodontitis; carotid atherosclerosis; cervical artery dissection, spontaneous; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; hypertension; lung cancer; Alzheimer's disease ; Apoplexy|Stroke; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Diabetic Retinopathy|; Guillain-Barre Syndrome; Colorectal Neoplasms; spontaneous cervical artery dissection.; coronary artery lesions; diabetes, type 2; Bipolar Disorder | mood disorders; Intervertebral Disk Displacement; preeclampsia; Kidney Failure, Chronic; Myocardial Infarction; Hepatitis B; osseointegrated implant failure; Fetal Membrane Rupture; Scleroderma, Systemic|Systemic Scleroderma; esophageal adenocarcinoma; emphysema; brain hemorrhage; Atrial Fibrillation|Heart Diseases|Hypertension|Hypertrophy, Left Ventricular; renal graft function; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; lung cancer ; ocular Chlamydia trachomatis infection; bone mineral density; atherosclerosis, carotid; Lymphoma, Non-Hodgkin; Alcoholism; Neoplasms; Constriction, Pathologic|Graft Occlusion, Vascular; Periodontitis; Crohn Disease|Recurrence; breast cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; subarachnoid hemorrhage; Helicobacter Infections|Metaplasia; acute coronary syndrome atherosclerosis, coronary; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Recurrence; Duodenal Ulcer|Gastritis|Helicobacter Infections; Glaucoma, Angle-Closure; myelopathy/tropical spastic paraparesis; Giant Cell Arteritis; Endometriosis; Acquired Immunodeficiency Syndrome|Cardiovascular Diseases; Exfoliation Syndrome|Glaucoma, Open-Angle; colorectal cancer; stomach cancer Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. Neutrophil degranulation GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006508;proteolysis;IDA|GO:0007566;embryo implantation;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;IEA|GO:0030225;macrophage differentiation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0030574;collagen catabolic process;TAS|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0035987;endodermal cell differentiation;IEP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043388;positive regulation of DNA binding;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050900;leukocyte migration;IEA|GO:0051549;positive regulation of keratinocyte migration;IMP|GO:0071276;cellular response to cadmium ion;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:1900122;positive regulation of receptor binding;IDA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001258;negative regulation of cation channel activity;IDA|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP9 https://www.uniprot.org/uniprot/P14780 https://hpo.jax.org/app/browse/search?q=MMP9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120361 http://www.informatics.jax.org/searchtool/Search.do?query=MMP9&submit=Quick%0D%2631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP9 rs3918256 0.260583 0.4715 0.4361 1 0 0 intronic intronic intronic MMP9 MMP9 ENSG00000100985 Na Na Na Na Na Na Het;G>A 2962;175|141 Het;G>A 1872;103|91 Hom;G>A 5819;2|222 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44645010 44645010 C T snp UTR3 *3C>T MMP9 Mmp9 ENSG00000100985 matrix metallopeptidase 9 chr20:44637547-44645200 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] restenosis; Pulmonary Disease, Chronic Obstructive; endometrial cancer; schizophrenia; Leukemia, Lymphocytic, Chronic, B-Cell; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; matrix metalloproteinase-9 activity; kidney failure, chronic; Cleft Lip|Cleft Palate; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; ovarian cancer; Peripheral Vascular Diseases; matrix metalloproteinase; cervical cancer; breast cancer ; Chronic Obstructive Pulmonary Disease; Multiple Sclerosis; gastric ulcer; Carcinoma, Squamous Cell|Esophageal Neoplasms|; aortic stiffness hypertension; Alzheimer's disease dementia, vascular; Chronic renal failure|Kidney Failure, Chronic; Long QT Syndrome; melanoma; Bone Mineral Density; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Inflammation|Premature Birth; acute coronary syndrome; nephropathy; Disease; asthma; angina; arterial stiffness; bone density; Airway Remodeling|Nasal Polyps|Recurrence|Sinusitis; Coronary Artery Disease; longevity myocardial infarct; Atherosclerosis; Coronary Artery Disease|Disease Susceptibility|Myocardial Infarction; Pre-Eclampsia; Bronchiectasis|; Lymphatic Metastasis|Stomach Neoplasms; Coronary Disease|Coronary heart disease; lung function; coronary artery disease; restenosis; chronic obstructive pulmonary disease/COPD; Tuberculosis, Pulmonary; patent ductus arteriosus; left ventricular remodeling; Acute Coronary Syndrome|Inflammation; glaucoma, primary open-angle; leukoaraiosis volume; coronary artery disease; COPD | Chronic obstructive Pulmonary Disease; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Hepatopulmonary Syndrome|Liver Cirrhosis; Hepatitis C, Chronic|Liver Cirrhosis; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; stroke; intrauterine growth; aneurysm; multiple sclerosis; bladder cancer; left ventricular dysfunction; Type 2 Diabetes| edema | rosiglitazone; abdominal aortic aneurysm; Amyotrophic Lateral Sclerosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cardiovascular Diseases; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Arteriosclerosis|Brain Ischemia|Carotid Artery Diseases|Cerebrovascular Disorders; myocardial infarct; atherosclerosis; Infection|Inflammation|Premature Birth; Behcet Syndrome; atherosclerosis, coronary; oral cancer; BMI; macular degeneration; Pelvic Organ Prolapse; Sjogren's syndrome; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; throracic aortic aneurysm throracic aortic dissection; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; rheumatoid arthritis; adenomyosis endometriosis; Glomerulonephritis, IGA; Endometriosis|Uterine Diseases; Moyamoya Disease; cognitive ability; Gingivitis; kidney aging; Fibrosis|Tuberculosis, Pulmonary; Carotid Artery, Internal, Dissection|; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; null; Crohn's disease ulcerative colitis; Osteoarthritis, Knee; Lupus Erythematosus, Systemic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; H. pylori infection stomach cancer; Carcinoma, Hepatocellular|Hepatitis C|Liver Neoplasms; dementia; plasma HDL cholesterol (HDL-C) levels; Brain Ischemia|Intracranial Hemorrhages|Myocardial Infarction|Stroke; atherosclerotic lesions; preterm delivery; Coronary Disease|; Spinal Diseases; Aortic Aneurysm, Abdominal; Alzheimer's Disease; brain aneurysm; prostate cancer; coronary disease; uterine leiomyoma; brain cancer; aortic dissection; myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; Duodenal Ulcer|Helicobacter Infections; nasopharyngeal cancer; chronic obstructive pulmonary disease/COPD; emphysema; periodontitis; carotid atherosclerosis; cervical artery dissection, spontaneous; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; hypertension; lung cancer; Alzheimer's disease ; Apoplexy|Stroke; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Diabetic Retinopathy|; Guillain-Barre Syndrome; Colorectal Neoplasms; spontaneous cervical artery dissection.; coronary artery lesions; diabetes, type 2; Bipolar Disorder | mood disorders; Intervertebral Disk Displacement; preeclampsia; Kidney Failure, Chronic; Myocardial Infarction; Hepatitis B; osseointegrated implant failure; Fetal Membrane Rupture; Scleroderma, Systemic|Systemic Scleroderma; esophageal adenocarcinoma; emphysema; brain hemorrhage; Atrial Fibrillation|Heart Diseases|Hypertension|Hypertrophy, Left Ventricular; renal graft function; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; lung cancer ; ocular Chlamydia trachomatis infection; bone mineral density; atherosclerosis, carotid; Lymphoma, Non-Hodgkin; Alcoholism; Neoplasms; Constriction, Pathologic|Graft Occlusion, Vascular; Periodontitis; Crohn Disease|Recurrence; breast cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; subarachnoid hemorrhage; Helicobacter Infections|Metaplasia; acute coronary syndrome atherosclerosis, coronary; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Recurrence; Duodenal Ulcer|Gastritis|Helicobacter Infections; Glaucoma, Angle-Closure; myelopathy/tropical spastic paraparesis; Giant Cell Arteritis; Endometriosis; Acquired Immunodeficiency Syndrome|Cardiovascular Diseases; Exfoliation Syndrome|Glaucoma, Open-Angle; colorectal cancer; stomach cancer Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. Neutrophil degranulation GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006508;proteolysis;IDA|GO:0007566;embryo implantation;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;IEA|GO:0030225;macrophage differentiation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0030574;collagen catabolic process;TAS|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0035987;endodermal cell differentiation;IEP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043388;positive regulation of DNA binding;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050900;leukocyte migration;IEA|GO:0051549;positive regulation of keratinocyte migration;IMP|GO:0071276;cellular response to cadmium ion;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:1900122;positive regulation of receptor binding;IDA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001258;negative regulation of cation channel activity;IDA|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP9 https://www.uniprot.org/uniprot/P14780 https://hpo.jax.org/app/browse/search?q=MMP9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120361 http://www.informatics.jax.org/searchtool/Search.do?query=MMP9&submit=Quick%0D%2631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP9 rs20544 0.259385 0.4731 0.4329 1 0 0 UTR3 UTR3 ncRNA_intronic MMP9(NM_004994:c.*3C>T) MMP9(uc002xqz.3:c.*3C>T) ENSG00000204044 Na Na Na Na Na Na Het;C>T 1597;48|72 Het;C>T 925;46|45 Hom;C>T 3194;3|125 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44674743 44674743 A C snp intronic SLC12A5 Slc12a5 ENSG00000124140 solute carrier family 12 member 5 chr20:44650356-44688784 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] BMI; Tobacco Use Disorder; Cleft Lip|Cleft Palate|Tooth Abnormalities; diabetes, type 2 Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures. Cation-coupled Chloride cotransporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006873;cellular ion homeostasis;NAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007612;learning;IEA|GO:0030644;cellular chloride ion homeostasis;IDA|GO:0035264;multicellular organism growth;IEA|GO:0040040;thermosensory behavior;IEA|GO:0042493;response to drug;IEA|GO:0055085;transmembrane transport;IEA|GO:0060996;dendritic spine development;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA GO:0005215;transporter activity;IEA|GO:0015108;chloride transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A5 https://www.uniprot.org/uniprot/Q9H2X9 https://hpo.jax.org/app/browse/search?q=SLC12A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606726 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A5&submit=Quick%0D%5595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A5 rs2297199 0.485823 0 0 1 0 0 intronic intronic intronic SLC12A5 SLC12A5 ENSG00000124140 Na Na Na Na Na Na Het;A>C 797;28|25 Het;A>C 889;21|28 Hom;A>C 1946;0|56 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44685096 44685096 G A snp synonymous SNV G3072A P1024P hydrophobic,neutral hydrophobic,neutral SLC12A5 Slc12a5 ENSG00000124140 solute carrier family 12 member 5 chr20:44650356-44688784 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] BMI; Tobacco Use Disorder; Cleft Lip|Cleft Palate|Tooth Abnormalities; diabetes, type 2 Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures. Cation-coupled Chloride cotransporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006873;cellular ion homeostasis;NAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007612;learning;IEA|GO:0030644;cellular chloride ion homeostasis;IDA|GO:0035264;multicellular organism growth;IEA|GO:0040040;thermosensory behavior;IEA|GO:0042493;response to drug;IEA|GO:0055085;transmembrane transport;IEA|GO:0060996;dendritic spine development;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA GO:0005215;transporter activity;IEA|GO:0015108;chloride transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A5 https://www.uniprot.org/uniprot/Q9H2X9 https://hpo.jax.org/app/browse/search?q=SLC12A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606726 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A5&submit=Quick%0D%5595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A5 rs757482980 0 0 9.107e-05 1 0 0 exonic exonic exonic SLC12A5 SLC12A5 ENSG00000124140 synonymous SNV synonymous SNV unknown SLC12A5:NM_001134771:exon23:c.G3072A:p.P1024P,SLC12A5:NM_020708:exon23:c.G3003A:p.P1001P, SLC12A5:uc010zxl.1:exon23:c.G3072A:p.P1024P,SLC12A5:uc002xrb.2:exon23:c.G3003A:p.P1001P, UNKNOWN Het;G>A 1209;59|52 Het;G>A 1403;50|62 Hom;G>A 2596;2|98 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44968255 44968255 C A snp intergenic CDH22 Cdh22 ENSG00000149654 cadherin 22 chr20:44802372-44937137 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008] diabetes, type 2; Body Height; BMI GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007420;brain development;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH22 https://www.uniprot.org/uniprot/Q9UJ99 https://www.ncbi.nlm.nih.gov/omim/?term=609920 http://www.informatics.jax.org/searchtool/Search.do?query=CDH22&submit=Quick%0D%9270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH22 rs6065961 0.0535144 0 0 1 0 0 intergenic intergenic intergenic CDH22(dist=31118),SLC35C2(dist=9912) CDH22(dist=31118),SLC35C2(dist=9922) ENSG00000149654(dist=31118),ENSG00000080189(dist=9912) Na Na Na Na Na Na Het;C>A 47;1|3 Ref Hom;C>A 84;0|3 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 44983517 44983517 G A snp intronic SLC35C2 Slc35c2 ENSG00000080189 solute carrier family 35 member C2 chr20:44978167-44993043 This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] Attention Deficit Disorder with Hyperactivity GO:0006810;transport;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0036065;fucosylation;IEA|GO:0036066;protein O-linked fucosylation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA GO:0005654;nucleoplasm;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005801;cis-Golgi network;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35C2 https://www.uniprot.org/uniprot/Q9NQQ7 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35C2&submit=Quick%0D%1722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35C2 rs12480667 0.148363 0.1859 0.3120 1 0 0 intronic intronic intronic SLC35C2 SLC35C2 ENSG00000080189 Na Na Na Na Na Na Het;G>A 629;35|30 Het;G>A 448;30|22 Hom;G>A 1585;2|64 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 45169957 45169957 C T snp nonsynonymous SNV G1657A V553M aliphatic,hydrophobic,neutral hydrophobic,neutral OCSTAMP Ocstamp ENSG00000149635 osteoclast stimulatory transmembrane protein chr20:45169585-45179213 Mice homozygous for a knock-out allele exhibit defective osteoclast fusion but normal skeletal paramaters. GO:0030154;cell differentiation;IEA|GO:0034241;positive regulation of macrophage fusion;IEA|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071391;cellular response to estrogen stimulus;IEA|GO:0072674;multinuclear osteoclast differentiation;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/OCSTAMP https://www.uniprot.org/uniprot/Q9BR26 http://www.informatics.jax.org/searchtool/Search.do?query=OCSTAMP&submit=Quick%0D%9265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OCSTAMP rs41283036 0.00479233 0.0039 0.0092 0.00 0 12 exonic exonic exonic OCSTAMP OCSTAMP ENSG00000149635 nonsynonymous SNV nonsynonymous SNV unknown OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M, OCSTAMP:uc010zxu.2:exon3:c.G1657A:p.V553M, UNKNOWN Het;C>T 816;29|34 Het;C>T 607;41|30 Hom;C>T 1696;0|64 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 48447939 48447949 ACTCTCTCTCT A indel intronic SLC9A8 Slc9a8 ENSG00000197818 solute carrier family 9 member A8 chr20:48429250-48508779 Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009] Mice homozygous for a gene trap allele exhibit male infertility, impaired mucin synthesis and bicarbonate secretion in the colon, abnormal blood coagulation and increased length of the small intestine, cecum and ileum crypts. Sodium/Proton exchangers GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006812;cation transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006885;regulation of pH;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IBA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0015385;sodium:proton antiporter activity;TAS|GO:0015386;potassium:proton antiporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC9A8 https://www.ncbi.nlm.nih.gov/omim/?term=612730 http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A8&submit=Quick%0D%16725ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A8 rs11469884 0 0 0 1 0 0 intronic intronic intronic SLC9A8 SLC9A8 ENSG00000197818 Na Na Na Na Na Na Het;-CTCTCTCTCT 375;14|12 Het;-CTCTCTCTCT 426;3|14 Hom;-CTCTCTCTCT 361;0|9 N N - 20 488930 488930 C T snp intronic CSNK2A1 Csnk2a1 ENSG00000101266 casein kinase 2 alpha 1 chr20:459116-524465 Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene. [provided by RefSeq, Jul 2014] colorectal cancer; schizophrenia | bipolar disorder; breast cancer; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for the null in the major catalytic subunit die by E11.5 and exhibit defects in neural, cardiac and limb development. Regulation of PTEN stability and activity GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006457;protein folding;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0030307;positive regulation of cell growth;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0048511;rhythmic process;IEA|GO:0061077;chaperone-mediated protein folding;TAS|GO:0071174;mitotic spindle checkpoint;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005956;protein kinase CK2 complex;IDA|GO:0016580;Sin3 complex;IDA|GO:0016581;NuRD complex;IDA|GO:0031519;PcG protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051879;Hsp90 protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CSNK2A1 https://www.uniprot.org/uniprot/P68400 https://hpo.jax.org/app/browse/search?q=CSNK2A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=115440 http://www.informatics.jax.org/searchtool/Search.do?query=CSNK2A1&submit=Quick%0D%2695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSNK2A1 rs74119 0.864816 0 0 1 0 0 intronic intronic intronic CSNK2A1 CSNK2A1 ENSG00000101266 Na Na Na Na Na Na Het;C>T 150;5|5 Ref Hom;C>T 179;1|6 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 50286484 50286484 T TA indel intronic ATP9A Atp9a ENSG00000054793 ATPase phospholipid transporting 9A (putative) chr20:50213053-50385173 Tobacco Use Disorder Ion transport by P-type ATPases GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP9A https://www.uniprot.org/uniprot/O75110 https://www.ncbi.nlm.nih.gov/omim/?term=609126 http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A rs397724515 0.598043 0.6825 0 1 0 0 intronic intronic intronic ATP9A ATP9A ENSG00000054793 Na Na Na Na Na Na Het;+A 255;2|13 Het;+A 239;2|13 Hom;+A 765;5|35 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 50713992 50713993 AT A indel intronic ZFP64 Zfp64 ENSG00000020256 ZFP64 zinc finger protein chr20:50668202-50820847 Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP64 https://www.uniprot.org/uniprot/Q9NPA5 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64 rs11309611 0.555711 0 0.4199 1 0 0 intronic intronic intronic ZFP64 ZFP64 ENSG00000020256 Na Na Na Na Na Na Het;-T 52;2|5 Het;-T 107;4|8 Hom;-T 235;1|11 20_50.701_78.701 Chr20:25016495-51804476 1.1 20 51316741 51316741 A G snp intergenic LINC01524 rs856333 0.871805 0 0 1 0 0 intergenic intergenic intergenic LINC01524(dist=49776),TSHZ2(dist=272205) TRNA_Pseudo(dist=98326),TSHZ2(dist=272205) ENSG00000232294(dist=9273),ENSG00000232286(dist=158136) Na Na Na Na Na Na Het;A>G 40;5|3 Ref Hom;A>G 256;0|8 N N - 20 55048496 55048496 T TGAG indel intronic RTFDC1 Rtfdc1 ENSG00000022277 replication termination factor 2 domain containing 1 chr20:55043647-55093943 GO:0008150;biological_process;ND|GO:0071171;site-specific DNA replication termination at RTS1 barrier;IBA|GO:1902979;mitotic DNA replication termination;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IBA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/RTFDC1 https://www.uniprot.org/uniprot/Q9BY42 http://www.informatics.jax.org/searchtool/Search.do?query=RTFDC1&submit=Quick%0D%671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTFDC1 rs11471796 0.863019 0.8039 0.8255 1 0 0 intronic intronic intronic RTFDC1 RTFDC1 ENSG00000022277 Na Na Na Na Na Na Het;+GAG 470;13|14 Het;+GAG 545;9|15 Hom;+GAG 683;0|16 N N - 20 55072472 55072472 A G snp splicing 192+1T>C GCNT7 Gcnt7 ENSG00000124091 glucosaminyl (N-acetyl) transferase family member 7 chr20:55066548-55100981 O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008375;acetylglucosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GCNT7 https://www.uniprot.org/uniprot/Q6ZNI0 http://www.informatics.jax.org/searchtool/Search.do?query=GCNT7&submit=Quick%0D%5584ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCNT7 rs6024911 0.840056 0.7762 0.8031 0.50 2 4 exonic splicing UTR5 GCNT7 GCNT7(uc010zzg.1:exon6:c.192+1T>C) ENSG00000124091(ENST00000243913:c.-174T>C) unknown Na Na UNKNOWN Na Na Het;A>G 1791;78|75 Het;A>G 1810;48|76 Hom;A>G 4834;0|168 N N - 20 55088404 55088404 A G snp nonsynonymous SNV A511G M171V hydrophobic,neutral aliphatic,hydrophobic,neutral RTFDC1 Rtfdc1 ENSG00000022277 replication termination factor 2 domain containing 1 chr20:55043647-55093943 GO:0008150;biological_process;ND|GO:0071171;site-specific DNA replication termination at RTS1 barrier;IBA|GO:1902979;mitotic DNA replication termination;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IBA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/RTFDC1 https://www.uniprot.org/uniprot/Q9BY42 http://www.informatics.jax.org/searchtool/Search.do?query=RTFDC1&submit=Quick%0D%671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTFDC1 rs1059768 0.865216 0.8094 0.8310 0.15 2 13 exonic exonic exonic RTFDC1 RTFDC1 ENSG00000022277 nonsynonymous SNV nonsynonymous SNV unknown RTFDC1:NM_001283035:exon7:c.A601G:p.M201V,RTFDC1:NM_016407:exon6:c.A511G:p.M171V,RTFDC1:NM_001283037:exon6:c.A511G:p.M171V,RTFDC1:NM_001283036:exon6:c.A511G:p.M171V, RTFDC1:uc002xxt.2:exon6:c.A511G:p.M171V,RTFDC1:uc002xxu.2:exon6:c.A511G:p.M171V,RTFDC1:uc010zzf.1:exon7:c.A601G:p.M201V, UNKNOWN Het;A>G 1074;70|54 Het;A>G 846;76|46 Hom;A>G 3192;0|118 N N - 20 56028022 56028022 A G snp intergenic RBM38 Rbm38 ENSG00000132819 RNA binding motif protein 38 chr20:55966463-55984389 Myocardial Infarction; Forced Expiratory Volume; Forced Vital Capacity; Erythrocyte Indices; Cholesterol Mice homozygous for a null mutation display premature aging and death with increased tumor incidence and hematopoietic defects including extramedullary hematopoiesis and anemia. GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;IEA|GO:0010830;regulation of myotube differentiation;IEA|GO:0030154;cell differentiation;IEA|GO:0043484;regulation of RNA splicing;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RBM38 https://www.uniprot.org/uniprot/Q9H0Z9 https://www.ncbi.nlm.nih.gov/omim/?term=612428 http://www.informatics.jax.org/searchtool/Search.do?query=RBM38&submit=Quick%0D%6745ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM38 rs6025571 0.817692 0 0 1 0 0 intergenic intergenic intergenic RBM38(dist=43636),CTCFL(dist=42999) MIR5095(dist=29744),NONE(dist=NONE) ENSG00000132819(dist=43633),ENSG00000124097(dist=35426) Na Na Na Na Na Na Het;A>G 351;19|13 Het;A>G 489;13|21 Hom;A>G 672;0|23 N N - 20 56074907 56074907 C G snp UTR3 *402G>C CTCFL Ctcfl ENSG00000124092 CCCTC-binding factor like chr20:56071035-56100708 CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Silver-Russell Syndrome; breast cancer Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTCFL https://www.uniprot.org/uniprot/Q8NI51 https://www.ncbi.nlm.nih.gov/omim/?term=607022 http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL rs2209885 0 0 0 1 0 0 UTR3 UTR3 UTR3 CTCFL(NM_001269044:c.*402G>C,NM_001269049:c.*402G>C,NM_001269054:c.*402G>C) CTCFL(uc010gje.3:c.*402G>C,uc010gjg.4:c.*402G>C,uc010gjf.3:c.*402G>C) ENSG00000124092(ENST00000433949:c.*402G>C,ENST00000502686:c.*402G>C,ENST00000422109:c.*721G>C,ENST00000426658:c.*1681G>C,ENST00000608440:c.*402G>C) Na Na Na Na Na Na Het;C>G 116;9|5 Het;C>G 83;16|6 Hom;C>G 263;0|8 N N - 20 56075067 56075067 C T snp UTR3 *242G>A CTCFL Ctcfl ENSG00000124092 CCCTC-binding factor like chr20:56071035-56100708 CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Silver-Russell Syndrome; breast cancer Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTCFL https://www.uniprot.org/uniprot/Q8NI51 https://www.ncbi.nlm.nih.gov/omim/?term=607022 http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL rs2225194 0.345847 0 0 1 0 0 UTR3 UTR3 UTR3 CTCFL(NM_001269044:c.*242G>A,NM_001269049:c.*242G>A,NM_001269054:c.*242G>A) CTCFL(uc010gje.3:c.*242G>A,uc010gjg.4:c.*242G>A,uc010gjf.3:c.*242G>A) ENSG00000124092(ENST00000433949:c.*242G>A,ENST00000502686:c.*242G>A,ENST00000422109:c.*561G>A,ENST00000426658:c.*1521G>A,ENST00000608440:c.*242G>A) Na Na Na Na Na Na Het;C>T 1055;59|51 Het;C>T 596;59|36 Hom;C>T 2251;0|83 N N - 20 56078690 56078690 G A snp intronic CTCFL Ctcfl ENSG00000124092 CCCTC-binding factor like chr20:56071035-56100708 CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Silver-Russell Syndrome; breast cancer Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTCFL https://www.uniprot.org/uniprot/Q8NI51 https://www.ncbi.nlm.nih.gov/omim/?term=607022 http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL rs6128059 0.213858 0.2364 0.2591 1 0 0 intronic intronic intronic CTCFL CTCFL ENSG00000124092 Na Na Na Na Na Na Het;G>A 668;16|25 Het;G>A 405;22|17 Hom;G>A 1297;0|45 N N - 20 56861637 56861637 A G snp ncRNA_intronic PPP4R1L rs6026181 0.688099 0 0 1 0 0 ncRNA_intronic intronic intronic PPP4R1L PPP4R1L ENSG00000124224 Na Na Na Na Na Na Het;A>G 65;6|3 Het;A>G 231;4|8 Hom;A>G 305;0|9 N N - 20 57478807 57478807 C T snp synonymous SNV C2322T I774I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GNAS Gnas ENSG00000087460 GNAS complex locus chr20:57414773-57486247 This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012] Body Fat Distribution; migraine migraine with aura; breast cancer; leukemia; Albumins; Neoplasm Recurrence, Local|Prostatic Neoplasms; Fibrosarcoma|Myxoma|Soft Tissue Neoplasms; normal variation; Leukemia, Lymphocytic, Chronic, B-Cell; Syncope, Vasovagal; blood pressure, arterial; heart rate; Prosthesis Failure; timolol pharmacokinetics; asthma; colorectal cancer; depression; liver cancer; bladder cancer; Goiter, Nodular|Thyrotoxicosis; null; diabetes, type 2; hypertension; glucose tolerance; Autonomic Nervous System Diseases|Syncope, Vasovagal; esophageal cancer ; Bulimia; hypertension; schizophrenia; hypotension, orthostatic; Alcoholism; insulin obesity polycystic ovary syndrome; brain hemorrhage; cerebrovascular disease; thrombosis, deep vein; Bone Neoplasms|Fibrous Dysplasia, Polyostotic|Ossification, Heterotopic|Osteoma|Pseudohypoparathyroidism|Skin Neoplasms|Syndrome; Type 2 Diabetes| edema | rosiglitazone; Thyroid Nodule; Takotsubo Cardiomyopathy; Carcinoma, Squamous Cell|Laryngeal Neoplasms; Adenoma|Adrenal Cortex Neoplasms|Cushing Syndrome; atherosclerosis; prostate cancer; kidney cancer; Pancreatic Neoplasms; Albright hereditary osteodystrophy; pseudohypoparathyroidism; hypertension; obesity; Malaria, Falciparum; Malaria; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Oropharyngeal Neoplasms|Recurrence; melanoma|Neoplasm Metastasis; gastric cancer; Adenoma, Acidophil|Adenoma, Chromophobe|Pituitary Neoplasms; Fibrous Dysplasia of Bone|Osteitis Fibrosa Disseminata|osteosarcoma; Body Weight; hypertension; autonomic nervous system dysfunction Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies. Hedgehog 'off' state GO:0001501;skeletal system development;IEA|GO:0001894;tissue homeostasis;IEA|GO:0001958;endochondral ossification;IEA|GO:0003091;renal water homeostasis;TAS|GO:0006112;energy reserve metabolic process;IEA|GO:0006306;DNA methylation;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007191;adenylate cyclase-activating dopamine receptor signaling pathway;ISS|GO:0007565;female pregnancy;NAS|GO:0007606;sensory perception of chemical stimulus;IBA|GO:0007608;sensory perception of smell;TAS|GO:0009306;protein secretion;NAS|GO:0009791;post-embryonic development;IEA|GO:0009966;regulation of signal transduction;IMP|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0040015;negative regulation of multicellular organism growth;ISS|GO:0040032;post-embryonic body morphogenesis;IEA|GO:0042493;response to drug;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0043588;skin development;IEA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0046907;intracellular transport;NAS|GO:0048589;developmental growth;IDA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050890;cognition;IDA|GO:0051216;cartilage development;IEA|GO:0060348;bone development;IDA|GO:0060789;hair follicle placode formation;IDA|GO:0070527;platelet aggregation;IDA|GO:0071107;response to parathyroid hormone;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0071380;cellular response to prostaglandin E stimulus;ISS|GO:0071514;genetic imprinting;IEA|GO:0071870;cellular response to catecholamine stimulus;ISS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA|GO:2000828;regulation of parathyroid hormone secretion;IEA GO:0001726;ruffle;IEA|GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005834;heterotrimeric G-protein complex;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0030133;transport vesicle;IEA|GO:0030425;dendrite;IEA|GO:0031224;intrinsic component of membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0003924;GTPase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005159;insulin-like growth factor receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IEA|GO:0031698;beta-2 adrenergic receptor binding;IBA|GO:0031748;D1 dopamine receptor binding;IBA|GO:0031852;mu-type opioid receptor binding;IBA|GO:0035255;ionotropic glutamate receptor binding;IBA|GO:0046872;metal ion binding;IEA|GO:0051430;corticotropin-releasing hormone receptor 1 binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GNAS https://www.uniprot.org/uniprot/P63092 https://hpo.jax.org/app/browse/search?q=GNAS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=139320 http://www.informatics.jax.org/searchtool/Search.do?query=GNAS&submit=Quick%0D%1974ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAS rs7121 0.644369 0.5794 0.5473 1 0 0 exonic exonic exonic GNAS GNAS ENSG00000087460 synonymous SNV synonymous SNV unknown GNAS:NM_080425:exon5:c.C2322T:p.I774I,GNAS:NM_000516:exon5:c.C393T:p.I131I,GNAS:NM_001077489:exon4:c.C348T:p.I116I,GNAS:NM_080426:exon4:c.C351T:p.I117I,GNAS:NM_001077488:exon5:c.C396T:p.I132I, GNAS:uc002xzt.3:exon5:c.C297T:p.I99I,GNAS:uc002yae.3:exon2:c.C168T:p.I56I,GNAS:uc021wfo.1:exon5:c.C396T:p.I132I,GNAS:uc002yaa.3:exon4:c.C348T:p.I116I,GNAS:uc002yad.3:exon3:c.C66T:p.I22I,GNAS:uc021wfp.1:exon4:c.C351T:p.I117I,GNAS:uc010gjq.3:exon5:c.C216T:p.I72I,GNAS:uc002xzx.3:exon5:c.C216T:p.I72I,GNAS:uc002xzw.3:exon5:c.C2322T:p.I774I,GNAS:uc021wfn.1:exon5:c.C393T:p.I131I, UNKNOWN Het;C>T 1951;117|90 Het;C>T 1735;100|77 Hom;C>T 4889;4|182 N N - 20 57564489 57564489 G A snp intronic NELFCD Nelfcd ENSG00000101158 negative elongation factor complex member C/D chr20:57556263-57570188 The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008] schizophrenia RNA Polymerase II Transcription Elongation GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA http://www.genecards.org/index.php?path=/Search/keyword/NELFCD https://www.uniprot.org/uniprot/Q8IXH7 https://www.ncbi.nlm.nih.gov/omim/?term=605297 http://www.informatics.jax.org/searchtool/Search.do?query=NELFCD&submit=Quick%0D%2662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFCD rs41314904 0.146366 0 0 1 0 0 intronic intronic intronic NELFCD NELFCD ENSG00000101158 Na Na Na Na Na Na Het;G>A 390;28|18 Het;G>A 193;27|10 Hom;G>A 1413;2|54 N N - 20 57564695 57564695 C T snp synonymous SNV C711T A237A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NELFCD Nelfcd ENSG00000101158 negative elongation factor complex member C/D chr20:57556263-57570188 The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008] schizophrenia RNA Polymerase II Transcription Elongation GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA http://www.genecards.org/index.php?path=/Search/keyword/NELFCD https://www.uniprot.org/uniprot/Q8IXH7 https://www.ncbi.nlm.nih.gov/omim/?term=605297 http://www.informatics.jax.org/searchtool/Search.do?query=NELFCD&submit=Quick%0D%2662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFCD rs17851253 0.0415335 0.0735 0.0803 1 0 0 exonic exonic exonic NELFCD NELFCD ENSG00000101158 synonymous SNV synonymous SNV unknown NELFCD:NM_198976:exon6:c.C711T:p.A237A, NELFCD:uc002yag.4:exon6:c.C711T:p.A237A,NELFCD:uc010zzu.2:exon6:c.C684T:p.A228A, UNKNOWN Het;C>T 982;39|42 Het;C>T 764;47|35 Hom;C>T 2336;1|85 N N - 20 57565943 57565943 G C snp intronic NELFCD Nelfcd ENSG00000101158 negative elongation factor complex member C/D chr20:57556263-57570188 The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008] schizophrenia RNA Polymerase II Transcription Elongation GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA http://www.genecards.org/index.php?path=/Search/keyword/NELFCD https://www.uniprot.org/uniprot/Q8IXH7 https://www.ncbi.nlm.nih.gov/omim/?term=605297 http://www.informatics.jax.org/searchtool/Search.do?query=NELFCD&submit=Quick%0D%2662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFCD rs163782 0.827077 0.8082 0.8047 1 0 0 intronic intronic intronic NELFCD NELFCD ENSG00000101158 Na Na Na Na Na Na Het;G>C 805;46|36 Het;G>C 652;32|30 Hom;G>C 2411;0|77 N N - 20 57570854 57570854 G A snp intronic CTSZ Ctsz ENSG00000101160 cathepsin Z chr20:57570240-57582302 The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008] Tuberculosis, Pulmonary; cognitive trait; Aging/ Telomere Length No abnormal pheotype detected in homozygous mutant mice. Neutrophil degranulation GO:0002003;angiotensin maturation;TAS|GO:0006508;proteolysis;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0010757;negative regulation of plasminogen activation;IMP|GO:0010977;negative regulation of neuron projection development;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IEA|GO:1901214;regulation of neuron death;IGI|GO:2000179;positive regulation of neural precursor cell proliferation;IEA GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0035580;specific granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0099738;cell cortex region;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004180;carboxypeptidase activity;IMP|GO:0004197;cysteine-type endopeptidase activity;IBA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTSZ https://www.uniprot.org/uniprot/Q9UBR2 https://www.ncbi.nlm.nih.gov/omim/?term=603169 http://www.informatics.jax.org/searchtool/Search.do?query=CTSZ&submit=Quick%0D%2663ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSZ rs3787492 0.277955 0.3454 0.3432 1 0 0 intronic intronic intronic CTSZ CTSZ ENSG00000101160 Na Na Na Na Na Na Het;G>A 433;24|19 Het;G>A 399;4|18 Hom;G>A 736;0|27 N N - 20 57572839 57572839 G T snp ncRNA_exonic AK310046 rs2295357 0.142971 0.1539 0.1682 1 0 0 intronic ncRNA_exonic intronic CTSZ AK310046 ENSG00000101160 Na Na Na Na Na Na Het;G>T 1105;40|47 Het;G>T 550;51|31 Hom;G>T 1895;2|70 N N - 20 57582279 57582279 T TCGGCCC indel UTR5 -96A>GGGCCGA CTSZ Ctsz ENSG00000101160 cathepsin Z chr20:57570240-57582302 The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008] Tuberculosis, Pulmonary; cognitive trait; Aging/ Telomere Length No abnormal pheotype detected in homozygous mutant mice. Neutrophil degranulation GO:0002003;angiotensin maturation;TAS|GO:0006508;proteolysis;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0010757;negative regulation of plasminogen activation;IMP|GO:0010977;negative regulation of neuron projection development;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IEA|GO:1901214;regulation of neuron death;IGI|GO:2000179;positive regulation of neural precursor cell proliferation;IEA GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0030426;growth cone;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0035580;specific granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0099738;cell cortex region;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004180;carboxypeptidase activity;IMP|GO:0004197;cysteine-type endopeptidase activity;IBA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTSZ https://www.uniprot.org/uniprot/Q9UBR2 https://www.ncbi.nlm.nih.gov/omim/?term=603169 http://www.informatics.jax.org/searchtool/Search.do?query=CTSZ&submit=Quick%0D%2663ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSZ rs200474697 0 0 0 1 0 0 UTR5 UTR5 UTR5 CTSZ(NM_001336:c.-96A>GGGCCGA) CTSZ(uc002yai.2:c.-96A>GGGCCGA,uc002yaj.4:c.-96A>GGGCCGA) ENSG00000101160(ENST00000217131:c.-96A>GGGCCGA) Na Na Na Na Na Na Het;+CGGCCC 403;13|12 Het;+CGGCCC 240;8|7 Hom;+CGGCCC 663;0|17 N N - 20 57599402 57599402 G A snp nonsynonymous SNV G920A R307H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) TUBB1 Tubb1 ENSG00000101162 tubulin beta 1 class VI chr20:57594309-57601709 This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010] Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. Kinesins GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB1 https://www.uniprot.org/uniprot/Q9H4B7 https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612901 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1 rs6070697 0.14397 0.1560 0.1738 0.15 2 13 exonic exonic exonic TUBB1 TUBB1 ENSG00000101162 nonsynonymous SNV nonsynonymous SNV unknown TUBB1:NM_030773:exon4:c.G920A:p.R307H, TUBB1:uc002yak.3:exon4:c.G920A:p.R307H, UNKNOWN Het;G>A 2855;132|128 Het;G>A 2360;104|104 Hom;G>A 5659;1|204 N N - 20 57610059 57610059 C A snp ncRNA_exonic SLMO2-ATP5E rs151358 0.170327 0.1938 0.2111 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 SLMO2-ATP5E SLMO2-ATP5E ENSG00000101166(ENST00000355937:c.*3G>T,ENST00000371033:c.*3G>T,ENST00000463057:c.*400G>T) Na Na Na Na Na Na Het;C>A 880;79|47 Het;C>A 1545;77|76 Hom;C>A 4050;1|152 N N - 20 57612390 57612390 C G snp ncRNA_intronic SLMO2-ATP5E rs151359 0.717851 0.6251 0.6965 1 0 0 ncRNA_intronic ncRNA_intronic intronic SLMO2-ATP5E SLMO2-ATP5E ENSG00000101166 Na Na Na Na Na Na Het;C>G 1115;58|48 Het;C>G 662;42|30 Hom;C>G 2721;0|102 N N - 20 57617698 57617698 T G snp ncRNA_intronic SLMO2-ATP5E rs8121266 0.154752 0.1770 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic SLMO2-ATP5E SLMO2-ATP5E ENSG00000101166 Na Na Na Na Na Na Het;T>G 464;18|22 Het;T>G 409;22|21 Hom;T>G 1363;0|51 N N - 20 57688670 57688670 C T snp ncRNA_exonic MRPS16P2 rs236705 0.784944 0 0 1 0 0 intergenic intergenic ncRNA_exonic SLMO2-ATP5E(dist=70769),ZNF831(dist=77405) SLMO2-ATP5E(dist=70769),ZNF831(dist=77405) ENSG00000232925 Na Na Na Na Na Na Het;C>T 487;16|24 Het;C>T 434;19|21 Hom;C>T 919;0|34 N N - 20 57951033 57951034 AT A indel intergenic EDN3 Edn3 ENSG00000124205 endothelin 3 chr20:57875482-57901047 The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Type 2 Diabetes| edema | rosiglitazone; Congenital Megacolon|Hirschsprung Disease; Cholesterol; null; Waist-Hip Ratio; hypertension; Cholesterol, HDL; Forced Vital Capacity; Arteries; cystic fibrosis; Sleep Apnea, Obstructive; Hirschsprung's disease; Triglycerides; Tunica Media; Hip; Lipids Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons. G alpha (q) signalling events GO:0001755;neural crest cell migration;IEA|GO:0002690;positive regulation of leukocyte chemotaxis;IDA|GO:0003100;regulation of systemic arterial blood pressure by endothelin;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;TAS|GO:0008015;blood circulation;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010460;positive regulation of heart rate;IDA|GO:0010468;regulation of gene expression;IGI|GO:0010961;cellular magnesium ion homeostasis;IEA|GO:0014826;vein smooth muscle contraction;IDA|GO:0019229;regulation of vasoconstriction;IEA|GO:0030072;peptide hormone secretion;IDA|GO:0030182;neuron differentiation;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030593;neutrophil chemotaxis;IDA|GO:0042310;vasoconstriction;IDA|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045597;positive regulation of cell differentiation;IGI|GO:0045840;positive regulation of mitotic nuclear division;IDA|GO:0046887;positive regulation of hormone secretion;IDA|GO:0048016;inositol phosphate-mediated signaling;IDA|GO:0048070;regulation of developmental pigmentation;IEA|GO:0050880;regulation of blood vessel size;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005623;cell;IEA GO:0005102;receptor binding;TAS|GO:0005179;hormone activity;IDA|GO:0031708;endothelin B receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EDN3 https://www.uniprot.org/uniprot/P14138 https://hpo.jax.org/app/browse/search?q=EDN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=131242 http://www.informatics.jax.org/searchtool/Search.do?query=EDN3&submit=Quick%0D%5615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDN3 rs36001552 0.197484 0 0 1 0 0 intergenic intergenic intergenic EDN3(dist=49986),PHACTR3(dist=201530) EDN3(dist=49986),PHACTR3(dist=201530) ENSG00000230352(dist=11205),ENSG00000233686(dist=84640) Na Na Na Na Na Na Het;-T 748;18|23 Het;-T 718;34|26 Hom;-T 1810;2|48 N N - 20 58253505 58253505 G A snp intronic PHACTR3 Phactr3 ENSG00000087495 phosphatase and actin regulator 3 chr20:58152564-58422766 This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Myocardial Infarction; Blood Pressure; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid GO:0043086;negative regulation of catalytic activity;IEA|GO:0050790;regulation of catalytic activity;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016363;nuclear matrix;IEA GO:0003779;actin binding;IEA|GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0008157;protein phosphatase 1 binding;IEA|GO:0019888;protein phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHACTR3 https://www.uniprot.org/uniprot/Q96KR7 https://www.ncbi.nlm.nih.gov/omim/?term=608725 http://www.informatics.jax.org/searchtool/Search.do?query=PHACTR3&submit=Quick%0D%1977ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHACTR3 rs6027036 0.322484 0 0 1 0 0 intronic intronic intronic PHACTR3 PHACTR3 ENSG00000087495 Na Na Na Na Na Na Het;G>A 110;6|5 Het;G>A 133;8|6 Hom;G>A 312;0|9 N N - 20 59930047 59930047 C T snp intronic CDH4 Cdh4 ENSG00000280641 cadherin 4 chr20:59827482-60515673 This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Tobacco Use Disorder; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Volumetric brain MRI Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH4 https://www.ncbi.nlm.nih.gov/omim/?term=603006 http://www.informatics.jax.org/searchtool/Search.do?query=CDH4&submit=Quick%0D%22229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH4 rs28415571 0.788139 0 0 1 0 0 intronic intronic intronic CDH4 CDH4 ENSG00000179242 Na Na Na Na Na Na Het;C>T 69;7|4 Het;C>T 216;4|11 Hom;C>T 521;0|19 N N - 20 60020554 60020554 C T snp intronic CDH4 Cdh4 ENSG00000280641 cadherin 4 chr20:59827482-60515673 This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Tobacco Use Disorder; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Volumetric brain MRI Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH4 https://www.ncbi.nlm.nih.gov/omim/?term=603006 http://www.informatics.jax.org/searchtool/Search.do?query=CDH4&submit=Quick%0D%22229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH4 rs62200874 0.188698 0 0 1 0 0 intronic intronic intronic CDH4 CDH4 ENSG00000179242 Na Na Na Na Na Na Het;C>T 80;5|5 Ref Hom;C>T 60;0|3 N N - 20 60268126 60268126 G A snp intronic CDH4 Cdh4 ENSG00000280641 cadherin 4 chr20:59827482-60515673 This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Tobacco Use Disorder; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Volumetric brain MRI Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH4 https://www.ncbi.nlm.nih.gov/omim/?term=603006 http://www.informatics.jax.org/searchtool/Search.do?query=CDH4&submit=Quick%0D%22229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH4 rs6089475 0.608227 0 0 1 0 0 intronic intronic intronic CDH4 CDH4 ENSG00000179242 Na Na Na Na Na Na Het;G>A 49;1|3 Ref Hom;G>A 71;0|4 N N - 20 6033628 6033628 T G snp intronic LRRN4 Lrrn4 ENSG00000125872 leucine rich repeat neuronal 4 chr20:6021424-6034695 Menopause Homozygous null mutant mice exhibit impaired memory retention in hippocampus- dependent learning tasks such as contextual conditioning and spatial learning. GO:0007616;long-term memory;IEA|GO:0008542;visual learning;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRRN4 https://www.uniprot.org/uniprot/Q8WUT4 http://www.informatics.jax.org/searchtool/Search.do?query=LRRN4&submit=Quick%0D%5867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRN4 rs751681 0.272564 0 0 1 0 0 intronic intronic intronic LRRN4 LRRN4 ENSG00000125872 Na Na Na Na Na Na Het;T>G 43;3|3 Ref Hom;T>G 103;0|4 N N - 20 60708216 60708216 G A snp intronic LSM14B Lsm14b ENSG00000149657 LSM family member 14B chr20:60697517-60710434 GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LSM14B https://www.uniprot.org/uniprot/Q9BX40 http://www.informatics.jax.org/searchtool/Search.do?query=LSM14B&submit=Quick%0D%9271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM14B rs6089657 0.598243 0 0 1 0 0 intronic intronic intronic LSM14B LSM14B ENSG00000149657 Na Na Na Na Na Na Het;G>A 79;9|4 Het;G>A 70;5|4 Hom;G>A 438;0|13 N N - 20 60712284 60712284 G A snp intronic PSMA7 Psma7 ENSG00000101182 proteasome subunit alpha 7 chr20:60711791-60718496 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;IEA|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0098794;postsynapse;IEA GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMA7 https://www.uniprot.org/uniprot/O14818 https://www.ncbi.nlm.nih.gov/omim/?term=606607 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA7&submit=Quick%0D%2669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA7 rs2057169 0.598442 0 0 1 0 0 intronic intronic intronic PSMA7 PSMA7 ENSG00000101182 Na Na Na Na Na Na Het;G>A 47;6|3 Het;G>A 67;2|3 Hom;G>A 87;0|3 N N - 20 60712347 60712347 G A snp intronic PSMA7 Psma7 ENSG00000101182 proteasome subunit alpha 7 chr20:60711791-60718496 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;IEA|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0098794;postsynapse;IEA GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMA7 https://www.uniprot.org/uniprot/O14818 https://www.ncbi.nlm.nih.gov/omim/?term=606607 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA7&submit=Quick%0D%2669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA7 rs2057168 0.598043 0 0 1 0 0 intronic intronic intronic PSMA7 PSMA7 ENSG00000101182 Na Na Na Na Na Na Het;G>A 381;12|13 Het;G>A 399;4|15 Hom;G>A 650;0|22 N N - 20 60712511 60712511 A G snp unknown PSMA7 Psma7 ENSG00000101182 proteasome subunit alpha 7 chr20:60711791-60718496 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;IEA|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0098794;postsynapse;IEA GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMA7 https://www.uniprot.org/uniprot/O14818 https://www.ncbi.nlm.nih.gov/omim/?term=606607 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA7&submit=Quick%0D%2669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA7 rs2281740 0.686901 0.6985 0.7654 1 0 0 intronic intronic exonic PSMA7 PSMA7 ENSG00000101182 Na Na unknown Na Na UNKNOWN Het;A>G 1213;46|56 Het;A>G 657;33|28 Hom;A>G 1855;0|69 N N - 20 60713311 60713311 G A snp synonymous SNV C507T R169R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PSMA7 Psma7 ENSG00000101182 proteasome subunit alpha 7 chr20:60711791-60718496 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;IEA|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0098794;postsynapse;IEA GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMA7 https://www.uniprot.org/uniprot/O14818 https://www.ncbi.nlm.nih.gov/omim/?term=606607 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA7&submit=Quick%0D%2669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA7 rs7076 0.598243 0.6132 0.7390 1 0 0 exonic exonic exonic PSMA7 PSMA7 ENSG00000101182 synonymous SNV synonymous SNV unknown PSMA7:NM_002792:exon5:c.C507T:p.R169R, PSMA7:uc002ybx.2:exon5:c.C507T:p.R169R, UNKNOWN Het;G>A 1461;108|73 Het;G>A 1657;90|79 Hom;G>A 2881;2|110 N N - 20 60713332 60713332 A G snp synonymous SNV T486C G162G aliphatic,neutral aliphatic,neutral PSMA7 Psma7 ENSG00000101182 proteasome subunit alpha 7 chr20:60711791-60718496 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;IEA|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0098794;postsynapse;IEA GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMA7 https://www.uniprot.org/uniprot/O14818 https://www.ncbi.nlm.nih.gov/omim/?term=606607 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA7&submit=Quick%0D%2669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA7 rs1135961 0.85643 0.8734 0.8524 1 0 0 exonic exonic exonic PSMA7 PSMA7 ENSG00000101182 synonymous SNV synonymous SNV unknown PSMA7:NM_002792:exon5:c.T486C:p.G162G, PSMA7:uc002ybx.2:exon5:c.T486C:p.G162G, UNKNOWN Het;A>G 1631;118|73 Het;A>G 1617;91|73 Hom;A>G 3024;2|111 N N - 20 60718420 60718420 C T snp UTR5 -61G>A PSMA7 Psma7 ENSG00000101182 proteasome subunit alpha 7 chr20:60711791-60718496 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] Chronic renal failure|Kidney Failure, Chronic Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;IEA|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0098794;postsynapse;IEA GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMA7 https://www.uniprot.org/uniprot/O14818 https://www.ncbi.nlm.nih.gov/omim/?term=606607 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA7&submit=Quick%0D%2669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA7 rs3746651 0.597843 0 0 1 0 0 UTR5 UTR5 UTR5 PSMA7(NM_002792:c.-61G>A) PSMA7(uc002ybx.2:c.-61G>A) ENSG00000101182(ENST00000370873:c.-61G>A,ENST00000370858:c.-61G>A) Na Na Na Na Na Na Het;C>T 77;7|5 Ref Hom;C>T 210;0|8 N N - 20 60791404 60791404 C T snp synonymous SNV G996A S332S polar,hydrophilic,neutral polar,hydrophilic,neutral HRH3 Hrh3 ENSG00000101180 histamine receptor H3 chr20:60790026-60795323 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008] schizophrenia; Weight Gain; Asthma|Hypersensitivity, Immediate; BMI- Edema rosiglitazone or pioglitazone; Hypercholesterolemia|LDLC levels Homozygotes for a targeted null mutation exhibit reduced locomotor activity and body temperature, and attenuated behavioral responses to the drugs thioperamide, methamphetamine, and scopolamine. G alpha (i) signalling events GO:0001505;regulation of neurotransmitter levels;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014050;negative regulation of glutamate secretion;IBA|GO:0014061;regulation of norepinephrine secretion;IBA|GO:0014063;negative regulation of serotonin secretion;IBA|GO:0050890;cognition;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004969;histamine receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/HRH3 https://www.uniprot.org/uniprot/Q9Y5N1 https://www.ncbi.nlm.nih.gov/omim/?term=604525 http://www.informatics.jax.org/searchtool/Search.do?query=HRH3&submit=Quick%0D%2667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HRH3 rs3787429 0.490415 0.4461 0.5084 0.25 1 4 exonic exonic exonic HRH3 HRH3 ENSG00000101180 synonymous SNV synonymous SNV unknown HRH3:NM_007232:exon3:c.G996A:p.S332S, HRH3:uc002ycf.2:exon3:c.G996A:p.S332S,HRH3:uc002yci.3:exon3:c.G996A:p.S332S, UNKNOWN Het;C>T 1889;60|76 Het;C>T 1630;56|70 Hom;C>T 2632;2|95 N N - 20 61179499 61179499 C G snp intergenic MIR1-1HG rs28567483 0.772364 0 0 1 0 0 intergenic intergenic intergenic MIR1-1HG(dist=11528),SLCO4A1(dist=94298) C20orf166(dist=11528),SLCO4A1(dist=94298) ENSG00000264490(dist=4785),ENSG00000232121(dist=85534) Na Na Na Na Na Na Het;C>G 73;4|4 Ref Hom;C>G 143;0|6 N N - 20 61202523 61202523 A G snp intergenic MIR1-1HG rs28442088 0.511382 0 0 1 0 0 intergenic intergenic intergenic MIR1-1HG(dist=34552),SLCO4A1(dist=71274) C20orf166(dist=34552),SLCO4A1(dist=71274) ENSG00000264490(dist=27809),ENSG00000232121(dist=62510) Na Na Na Na Na Na Het;A>G 112;5|6 Het;A>G 134;2|7 Hom;A>G 170;0|7 N N - 20 61389531 61389569 GTGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCACGCCTC G indel intronic NTSR1 Ntsr1 ENSG00000101188 neurotensin receptor 1 chr20:61340189-61394123 Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008] Hypertension; Psychiatric Disorders; Schizophrenia; Bulimia; Hemoglobin A, Glycosylated; alcohol consumption; Hyperparathyroidism, Secondary; schizophrenia; several psychiatric disorders Mice deficient for this marker have normal baseline prepulse inhibition responses and acoustic startle responses. Mice are heavier, eat more, and have lower body temperatures. G alpha (q) signalling events GO:0001659;temperature homeostasis;IEA|GO:0003085;negative regulation of systemic arterial blood pressure;IEA|GO:0003254;regulation of membrane depolarization;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007268;chemical synaptic transmission;TAS|GO:0007612;learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0033993;response to lipid;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043576;regulation of respiratory gaseous exchange;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0051280;negative regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IEA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IEA|GO:0070779;D-aspartate import;IEA|GO:0071545;inositol phosphate catabolic process;IEA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0097151;positive regulation of inhibitory postsynaptic potential;IEA|GO:0098712;L-glutamate import across plasma membrane;IEA|GO:0098900;regulation of action potential;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IMP|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032280;symmetric synapse;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0044309;neuron spine;IEA|GO:0045121;membrane raft;IDA|GO:0045202;synapse;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0016492;G-protein coupled neurotensin receptor activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0047485;protein N-terminus binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NTSR1 https://www.uniprot.org/uniprot/P30989 https://www.ncbi.nlm.nih.gov/omim/?term=162651 http://www.informatics.jax.org/searchtool/Search.do?query=NTSR1&submit=Quick%0D%2671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTSR1 rs559317042 0.15615 0 0 1 0 0 intronic intronic intronic NTSR1 NTSR1 ENSG00000101188 Na Na Na Na Na Na Het;-TGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCACGCCTC 1539;41|43 Het;-TGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCACGCCTC 1672;43|44 Hom;-TGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCACGCCTC 2150;0|52 N N - 20 61439841 61439841 G A snp intronic OGFR Ogfr ENSG00000060491 opioid growth factor receptor chr20:61436187-61445352 The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008] GO:0001558;regulation of cell growth;NAS|GO:0038003;opioid receptor signaling pathway;IEA|GO:0040008;regulation of growth;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0004872;receptor activity;IEA|GO:0004985;opioid receptor activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/OGFR https://www.uniprot.org/uniprot/Q9NZT2 https://www.ncbi.nlm.nih.gov/omim/?term=606459 http://www.informatics.jax.org/searchtool/Search.do?query=OGFR&submit=Quick%0D%1060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OGFR rs11905838 0.296725 0 0 1 0 0 intronic intronic intronic OGFR OGFR ENSG00000060491 Na Na Na Na Na Na Het;G>A 287;10|10 Ref Hom;G>A 132;0|4 N N - 20 61468571 61468571 T C snp synonymous SNV T1740C P580P hydrophobic,neutral hydrophobic,neutral COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs2294995 0.709864 0.7644 0.6869 1 0 0 exonic exonic exonic COL9A3 COL9A3 ENSG00000092758 synonymous SNV synonymous SNV unknown COL9A3:NM_001853:exon30:c.T1740C:p.P580P, COL9A3:uc002ydm.3:exon30:c.T1740C:p.P580P,COL9A3:uc002ydn.3:exon2:c.T222C:p.P74P, UNKNOWN Het;T>C 2201;105|97 Het;T>C 1826;58|79 Hom;T>C 4228;0|156 N N - 20 61472073 61472073 C A snp synonymous SNV C2044A R682R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs1048100 0.169129 0.1546 0.1490 1 0 0 exonic exonic exonic COL9A3 COL9A3 ENSG00000092758 synonymous SNV synonymous SNV unknown COL9A3:NM_001853:exon32:c.C2044A:p.R682R, COL9A3:uc002ydm.3:exon32:c.C2044A:p.R682R,COL9A3:uc002ydn.3:exon4:c.C526A:p.R176R, UNKNOWN Het;C>A 1309;58|59 Het;C>A 608;50|30 Hom;C>A 2022;0|78 N N - 20 61472115 61472115 C CAA indel UTR3 *31C>CAA COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs758152474 0 0 0.1041 1 0 0 UTR3 UTR3 UTR3 COL9A3(NM_001853:c.*31C>CAA) COL9A3(uc002ydm.3:c.*31C>CAA,uc002ydn.3:c.*31C>CAA) ENSG00000092758(ENST00000343916:c.*31C>CAA) Na Na Na Na Na Na Het;+AA 2036;58|54 Het;+AA 808;59|26 Hom;+AA 2328;0|53 N N - 20 61472116 61472118 GCC G indel UTR3 *32_*34delinsG COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs746895107 0 0 0.1052 1 0 0 UTR3 UTR3 UTR3 COL9A3(NM_001853:c.*32_*34delinsG) COL9A3(uc002ydm.3:c.*32_*34delinsG,uc002ydn.3:c.*32_*34delinsG) ENSG00000092758(ENST00000343916:c.*32_*34delinsG) Na Na Na Na Na Na Het;-CC 2065;58|53 Het;-CC 348;61|21 Hom;-CC 2328;0|51 N N - 20 61472120 61472120 G A snp UTR3 *36G>A COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs1048109 0.131789 0 0.1038 1 0 0 UTR3 UTR3 UTR3 COL9A3(NM_001853:c.*36G>A) COL9A3(uc002ydm.3:c.*36G>A,uc002ydn.3:c.*36G>A) ENSG00000092758(ENST00000343916:c.*36G>A) Na Na Na Na Na Na Het;G>A 2053;58|54 Het;G>A 357;60|21 Hom;G>A 2222;0|50 N N - 20 61472386 61472386 A G snp UTR3 *302A>G COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs3664 0.245607 0 0 1 0 0 UTR3 UTR3 UTR3 COL9A3(NM_001853:c.*302A>G),TCFL5(NM_006602:c.*941T>C) COL9A3(uc002ydm.3:c.*302A>G,uc002ydn.3:c.*302A>G) ENSG00000092758(ENST00000343916:c.*302A>G) Na Na Na Na Na Na Het;A>G 704;39|28 Het;A>G 493;40|24 Hom;A>G 2099;0|74 N N - 20 61472440 61472440 C T snp UTR3 *356C>T COL9A3 Col9a3 ENSG00000092758 collagen type IX alpha 3 chain chr20:61447596-61472511 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] disc degeneration, intervertebral; sciatica; disc degeneration; multiple epiphyseal dysplasia; osteoarthritis; Intervertebral Disk Displacement; hearing loss, sensorineural nonsyndromic; disc degeneration, lumbar spine; intervertebral disc disease; Spinal Diseases Collagen chain trimerization GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005594;collagen type IX trimer;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0030020;extracellular matrix structural constituent conferring tensile strength;IC http://www.genecards.org/index.php?path=/Search/keyword/COL9A3 https://www.uniprot.org/uniprot/Q14050 https://hpo.jax.org/app/browse/search?q=COL9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120270 http://www.informatics.jax.org/searchtool/Search.do?query=COL9A3&submit=Quick%0D%2199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL9A3 rs1048132 0.243011 0 0 1 0 0 UTR3 UTR3 UTR3 COL9A3(NM_001853:c.*356C>T),TCFL5(NM_006602:c.*887G>A) COL9A3(uc002ydm.3:c.*356C>T,uc002ydn.3:c.*356C>T) ENSG00000092758(ENST00000343916:c.*356C>T) Na Na Na Na Na Na Het;C>T 631;32|27 Het;C>T 593;41|28 Hom;C>T 1987;0|70 N N - 20 61472546 61472546 A ACATCT indel UTR3 *781T>AGATGT TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs3034176 0.238419 0 0 1 0 0 UTR3 UTR3 UTR3 TCFL5(NM_006602:c.*781T>AGATGT) TCFL5(uc002ydo.3:c.*781T>AGATGT,uc002ydp.3:c.*781T>AGATGT) ENSG00000101190(ENST00000335351:c.*781T>AGATGT) Na Na Na Na Na Na Het;+CATCT 392;11|11 Het;+CATCT 395;10|11 Hom;+CATCT 894;0|21 N N - 20 61472596 61472596 G A snp UTR3 *731C>T TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs1046789 0.242812 0 0 1 0 0 UTR3 UTR3 UTR3 TCFL5(NM_006602:c.*731C>T) TCFL5(uc002ydo.3:c.*731C>T,uc002ydp.3:c.*731C>T) ENSG00000101190(ENST00000335351:c.*731C>T) Na Na Na Na Na Na Het;G>A 110;4|5 Het;G>A 116;4|5 Hom;G>A 222;0|8 N N - 20 61472616 61472620 GTGAT G indel UTR3 *711_*707delinsC TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs397813751 0 0 0 1 0 0 UTR3 UTR3 UTR3 TCFL5(NM_006602:c.*711_*707delinsC) TCFL5(uc002ydo.3:c.*711_*707delinsC,uc002ydp.3:c.*711_*707delinsC) ENSG00000101190(ENST00000335351:c.*711_*707delinsC) Na Na Na Na Na Na Het;-TGAT 167;2|5 Ref Hom;-TGAT 143;0|4 N N - 20 61473270 61473270 G GT indel UTR3 *57C>AC TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs397786547 0.185703 0 0 1 0 0 UTR3 UTR3 UTR3 TCFL5(NM_006602:c.*57C>AC) TCFL5(uc002ydo.3:c.*57C>AC,uc002ydp.3:c.*57C>AC) ENSG00000101190(ENST00000335351:c.*57C>AC) Na Na Na Na Na Na Het;+T 590;19|19 Het;+T 471;14|16 Hom;+T 1305;0|36 N N - 20 61484489 61484489 C T snp intronic TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs68087437 0.222244 0 0 1 0 0 intronic intronic intronic TCFL5 TCFL5 ENSG00000101190 Na Na Na Na Na Na Het;C>T 629;11|17 Ref Hom;C>T 947;3|23 N N - 20 61484496 61484496 C CAGCATAGTCACCCAGTCCACAGA indel intronic TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 Na 0 0 0 1 0 0 intronic intronic intronic TCFL5 TCFL5 ENSG00000101190 Na Na Na Na Na Na Het;+AGCATAGTCACCCAGTCCACAGA 743;12|17 Ref Hom;+AGCATAGTCACCCAGTCCACAGA 1350;0|23 N N - 20 61484518 61484518 A G snp intronic TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs35484883 0.40655 0 0 1 0 0 intronic intronic intronic TCFL5 TCFL5 ENSG00000101190 Na Na Na Na Na Na Het;A>G 669;14|17 Ref Hom;A>G 1343;0|35 N N - 20 61488785 61488785 T C snp synonymous SNV A1200G Q400Q polar,hydrophilic,neutral polar,hydrophilic,neutral TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs2294996 0.227436 0.2786 0.2461 1 0 0 exonic exonic exonic TCFL5 TCFL5 ENSG00000101190 synonymous SNV synonymous SNV unknown TCFL5:NM_006602:exon4:c.A1200G:p.Q400Q,TCFL5:NM_001301726:exon4:c.A1197G:p.Q399Q, TCFL5:uc002ydp.3:exon4:c.A1200G:p.Q400Q,TCFL5:uc002ydq.3:exon4:c.A1197G:p.Q399Q,TCFL5:uc002ydo.3:exon3:c.A519G:p.Q173Q, UNKNOWN Het;T>C 2240;108|91 Het;T>C 2125;71|85 Hom;T>C 5053;0|176 N N - 20 61491071 61491076 GTTTTT G indel intronic TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs571032850 0 0 0 1 0 0 intronic intronic intronic TCFL5 TCFL5 ENSG00000101190 Na Na Na Na Na Na Het;-TTTTT 200;3|6 Ref Hom;-TTTTT 143;0|4 N N - 20 61491494 61491494 T C snp nonsynonymous SNV A814G N272D polar,hydrophilic,neutral polar,hydrophilic,charged(-) TCFL5 Tcfl5 ENSG00000101190 transcription factor like 5 chr20:61472467-61493115 The cell-type and stage-specific expression of TCFL5 indicates that this protein may function in a crucial role in spermatogenesis as a transcription factor by regulating cell proliferation or differentiation of cells through binding to a specific DNA sequence like other bHLH molecules. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0042127;regulation of cell proliferation;IEP|GO:0045595;regulation of cell differentiation;IEP GO:0001673;male germ cell nucleus;IEA|GO:0005634;nucleus;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCFL5 https://www.uniprot.org/uniprot/Q9UL49 https://www.ncbi.nlm.nih.gov/omim/?term=604745 http://www.informatics.jax.org/searchtool/Search.do?query=TCFL5&submit=Quick%0D%97ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCFL5 rs17854409 0.133986 0.1231 0.0931 0.15 2 13 exonic exonic exonic TCFL5 TCFL5 ENSG00000101190 nonsynonymous SNV nonsynonymous SNV unknown TCFL5:NM_006602:exon2:c.A814G:p.N272D,TCFL5:NM_001301726:exon2:c.A814G:p.N272D, TCFL5:uc002ydp.3:exon2:c.A814G:p.N272D,TCFL5:uc002ydq.3:exon2:c.A814G:p.N272D,TCFL5:uc002ydo.3:exon1:c.A133G:p.N45D, UNKNOWN Het;T>C 1556;58|62 Het;T>C 998;44|38 Hom;T>C 2566;0|92 N N - 20 61772758 61772758 T C snp intergenic HAR1A rs1997989 0.527356 0 0 1 0 0 intergenic intergenic intergenic HAR1A(dist=37021),MIR124-3(dist=37094) HAR1A(dist=37021),MIR124-3(dist=37094) ENSG00000260416(dist=11947),ENSG00000231977(dist=25391) Na Na Na Na Na Na Het;T>C 343;19|16 Het;T>C 93;11|4 Hom;T>C 520;0|19 N N - 20 61915375 61915375 G T snp intronic ARFGAP1 Arfgap1 ENSG00000101199 ADP ribosylation factor GTPase activating protein 1 chr20:61904137-61921142 The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Clathrin-mediated endocytosis GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0030100;regulation of endocytosis;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0014069;postsynaptic density;IEA|GO:0045202;synapse;IEA GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARFGAP1 https://www.uniprot.org/uniprot/Q8N6T3 https://www.ncbi.nlm.nih.gov/omim/?term=608377 http://www.informatics.jax.org/searchtool/Search.do?query=ARFGAP1&submit=Quick%0D%2678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARFGAP1 rs11086161 0.297524 0 0 1 0 0 intronic intronic intronic ARFGAP1 ARFGAP1 ENSG00000101199 Na Na Na Na Na Na Het;G>T 382;24|14 Het;G>T 298;15|10 Hom;G>T 753;0|22 N N - 20 61916379 61916379 C T snp intronic ARFGAP1 Arfgap1 ENSG00000101199 ADP ribosylation factor GTPase activating protein 1 chr20:61904137-61921142 The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Clathrin-mediated endocytosis GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0030100;regulation of endocytosis;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0014069;postsynaptic density;IEA|GO:0045202;synapse;IEA GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARFGAP1 https://www.uniprot.org/uniprot/Q8N6T3 https://www.ncbi.nlm.nih.gov/omim/?term=608377 http://www.informatics.jax.org/searchtool/Search.do?query=ARFGAP1&submit=Quick%0D%2678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARFGAP1 rs13042357 0.389776 0 0 1 0 0 intronic intronic intronic ARFGAP1 ARFGAP1 ENSG00000101199 Na Na Na Na Na Na Het;C>T 820;14|28 Het;C>T 376;16|15 Hom;C>T 692;1|22 N N - 20 61951789 61951789 C T snp intronic COL20A1 Col20a1 ENSG00000101203 collagen type XX alpha 1 chain chr20:61924538-61966203 Male mice homozygous for a mutation are viable and show normal fertility. Collagen chain trimerization GO:0005576;extracellular region;TAS|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;TAS http://www.genecards.org/index.php?path=/Search/keyword/COL20A1 https://www.uniprot.org/uniprot/Q9P218 http://www.informatics.jax.org/searchtool/Search.do?query=COL20A1&submit=Quick%0D%2680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL20A1 rs6062891 0.836462 0 0 1 0 0 intronic intronic intronic COL20A1 COL20A1 ENSG00000101203 Na Na Na Na Na Na Het;C>T 387;34|17 Het;C>T 440;23|20 Hom;C>T 1463;0|51 N N - 20 61981554 61981554 C A snp synonymous SNV G681T P227P hydrophobic,neutral hydrophobic,neutral CHRNA4 Chrna4 ENSG00000101204 cholinergic receptor nicotinic alpha 4 subunit chr20:61975420-62009753 This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] alcohol; Epilepsy, Frontal Lobe; attentional network function; Tobacco Use Disorder; Chronic obstructive Pulmonary Disease; Alzheimer's disease; ADHD | attention-deficit hyperactivity disorder; schizophrenia; Autism; attention brain white matter; cognitive function; alcoholism; attention deficit hyperactivity disorder; alcohol-related phenotypes nicotine; panic disorder; alcohol consumption; Schizophrenia; Epilepsy, Frontal Lobe|; smoking; nocturnal frontal lobe epilepsy; Alzheimer's Disease; Prenatal Exposure Delayed Effects; DNA damage; seizures, febrile; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Cleft Lip|Cleft Palate; febrile convulsions; Motor Neuron Disease; epilepsy; exfoliation syndrome; financial and psychological risk attitudes; Weight Gain; patent ductus arteriosus; Alcoholism; Amphetamine-Related Disorders|Psychoses, Substance-Induced; Parkinson's disease; Myoclonic Epilepsy, Juvenile; bipolar disorder; null Nullizygous mice may show reduced chemically-elicited analgesia, susceptibility to seizures, increased anxiety, and altered behavioral responses to nicotine or a new environment. Homozygotes for any of several knock-in alleles exhibit altered nervous system physiology and/or sensitivity to nicotine. Highly calcium permeable nicotinic acetylcholine receptors GO:0001508;action potential;IEA|GO:0001666;response to hypoxia;IDA|GO:0006281;DNA repair;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007165;signal transduction;IDA|GO:0007268;chemical synaptic transmission;NAS|GO:0007271;synaptic transmission, cholinergic;IEA|GO:0007274;neuromuscular synaptic transmission;IBA|GO:0007585;respiratory gaseous exchange;IEA|GO:0007626;locomotory behavior;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035094;response to nicotine;IDA|GO:0035095;behavioral response to nicotine;IMP|GO:0035640;exploration behavior;IEA|GO:0042113;B cell activation;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0050877;neurological system process;IMP|GO:0050890;cognition;IMP|GO:0051899;membrane depolarization;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060080;inhibitory postsynaptic potential;IEA|GO:0095500;acetylcholine receptor signaling pathway;IEA|GO:0098655;cation transmembrane transport;IBA GO:0005886;plasma membrane;TAS|GO:0005892;acetylcholine-gated channel complex;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015464;acetylcholine receptor activity;IDA|GO:0022848;acetylcholine-gated cation-selective channel activity;IDA|GO:0042166;acetylcholine binding;IC http://www.genecards.org/index.php?path=/Search/keyword/CHRNA4 https://www.uniprot.org/uniprot/P43681 https://hpo.jax.org/app/browse/search?q=CHRNA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=118504 http://www.informatics.jax.org/searchtool/Search.do?query=CHRNA4&submit=Quick%0D%2681ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRNA4 rs2229959 0.733826 0.7514 0.8354 1 0 0 exonic exonic exonic CHRNA4 CHRNA4 ENSG00000101204 synonymous SNV synonymous SNV unknown CHRNA4:NM_001256573:exon5:c.G681T:p.P227P,CHRNA4:NM_000744:exon5:c.G1209T:p.P403P, CHRNA4:uc002yes.3:exon5:c.G1209T:p.P403P,CHRNA4:uc002yev.2:exon5:c.G681T:p.P227P,CHRNA4:uc010gkf.2:exon5:c.G681T:p.P227P,CHRNA4:uc002yet.2:exon4:c.G681T:p.P227P,CHRNA4:uc010gke.1:exon5:c.G996T:p.P332P, UNKNOWN Het;C>A 1771;89|77 Het;C>A 1239;61|52 Hom;C>A 2789;0|98 N N - 20 61982124 61982124 A G snp synonymous SNV T111C D37D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CHRNA4 Chrna4 ENSG00000101204 cholinergic receptor nicotinic alpha 4 subunit chr20:61975420-62009753 This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] alcohol; Epilepsy, Frontal Lobe; attentional network function; Tobacco Use Disorder; Chronic obstructive Pulmonary Disease; Alzheimer's disease; ADHD | attention-deficit hyperactivity disorder; schizophrenia; Autism; attention brain white matter; cognitive function; alcoholism; attention deficit hyperactivity disorder; alcohol-related phenotypes nicotine; panic disorder; alcohol consumption; Schizophrenia; Epilepsy, Frontal Lobe|; smoking; nocturnal frontal lobe epilepsy; Alzheimer's Disease; Prenatal Exposure Delayed Effects; DNA damage; seizures, febrile; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Cleft Lip|Cleft Palate; febrile convulsions; Motor Neuron Disease; epilepsy; exfoliation syndrome; financial and psychological risk attitudes; Weight Gain; patent ductus arteriosus; Alcoholism; Amphetamine-Related Disorders|Psychoses, Substance-Induced; Parkinson's disease; Myoclonic Epilepsy, Juvenile; bipolar disorder; null Nullizygous mice may show reduced chemically-elicited analgesia, susceptibility to seizures, increased anxiety, and altered behavioral responses to nicotine or a new environment. Homozygotes for any of several knock-in alleles exhibit altered nervous system physiology and/or sensitivity to nicotine. Highly calcium permeable nicotinic acetylcholine receptors GO:0001508;action potential;IEA|GO:0001666;response to hypoxia;IDA|GO:0006281;DNA repair;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007165;signal transduction;IDA|GO:0007268;chemical synaptic transmission;NAS|GO:0007271;synaptic transmission, cholinergic;IEA|GO:0007274;neuromuscular synaptic transmission;IBA|GO:0007585;respiratory gaseous exchange;IEA|GO:0007626;locomotory behavior;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035094;response to nicotine;IDA|GO:0035095;behavioral response to nicotine;IMP|GO:0035640;exploration behavior;IEA|GO:0042113;B cell activation;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0050877;neurological system process;IMP|GO:0050890;cognition;IMP|GO:0051899;membrane depolarization;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060080;inhibitory postsynaptic potential;IEA|GO:0095500;acetylcholine receptor signaling pathway;IEA|GO:0098655;cation transmembrane transport;IBA GO:0005886;plasma membrane;TAS|GO:0005892;acetylcholine-gated channel complex;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015464;acetylcholine receptor activity;IDA|GO:0022848;acetylcholine-gated cation-selective channel activity;IDA|GO:0042166;acetylcholine binding;IC http://www.genecards.org/index.php?path=/Search/keyword/CHRNA4 https://www.uniprot.org/uniprot/P43681 https://hpo.jax.org/app/browse/search?q=CHRNA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=118504 http://www.informatics.jax.org/searchtool/Search.do?query=CHRNA4&submit=Quick%0D%2681ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRNA4 rs1044393 0.757188 0.7670 0.8353 1 0 0 exonic exonic exonic CHRNA4 CHRNA4 ENSG00000101204 synonymous SNV synonymous SNV unknown CHRNA4:NM_001256573:exon5:c.T111C:p.D37D,CHRNA4:NM_000744:exon5:c.T639C:p.D213D, CHRNA4:uc002yes.3:exon5:c.T639C:p.D213D,CHRNA4:uc002yev.2:exon5:c.T111C:p.D37D,CHRNA4:uc010gkf.2:exon5:c.T111C:p.D37D,CHRNA4:uc002yet.2:exon4:c.T111C:p.D37D,CHRNA4:uc010gke.1:exon5:c.T426C:p.D142D, UNKNOWN Het;A>G 3723;151|154 Het;A>G 2714;130|121 Hom;A>G 7069;0|251 N N - 20 61992547 61992547 G C snp UTR5 -10313C>G CHRNA4 Chrna4 ENSG00000101204 cholinergic receptor nicotinic alpha 4 subunit chr20:61975420-62009753 This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] alcohol; Epilepsy, Frontal Lobe; attentional network function; Tobacco Use Disorder; Chronic obstructive Pulmonary Disease; Alzheimer's disease; ADHD | attention-deficit hyperactivity disorder; schizophrenia; Autism; attention brain white matter; cognitive function; alcoholism; attention deficit hyperactivity disorder; alcohol-related phenotypes nicotine; panic disorder; alcohol consumption; Schizophrenia; Epilepsy, Frontal Lobe|; smoking; nocturnal frontal lobe epilepsy; Alzheimer's Disease; Prenatal Exposure Delayed Effects; DNA damage; seizures, febrile; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Cleft Lip|Cleft Palate; febrile convulsions; Motor Neuron Disease; epilepsy; exfoliation syndrome; financial and psychological risk attitudes; Weight Gain; patent ductus arteriosus; Alcoholism; Amphetamine-Related Disorders|Psychoses, Substance-Induced; Parkinson's disease; Myoclonic Epilepsy, Juvenile; bipolar disorder; null Nullizygous mice may show reduced chemically-elicited analgesia, susceptibility to seizures, increased anxiety, and altered behavioral responses to nicotine or a new environment. Homozygotes for any of several knock-in alleles exhibit altered nervous system physiology and/or sensitivity to nicotine. Highly calcium permeable nicotinic acetylcholine receptors GO:0001508;action potential;IEA|GO:0001666;response to hypoxia;IDA|GO:0006281;DNA repair;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007165;signal transduction;IDA|GO:0007268;chemical synaptic transmission;NAS|GO:0007271;synaptic transmission, cholinergic;IEA|GO:0007274;neuromuscular synaptic transmission;IBA|GO:0007585;respiratory gaseous exchange;IEA|GO:0007626;locomotory behavior;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035094;response to nicotine;IDA|GO:0035095;behavioral response to nicotine;IMP|GO:0035640;exploration behavior;IEA|GO:0042113;B cell activation;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0050877;neurological system process;IMP|GO:0050890;cognition;IMP|GO:0051899;membrane depolarization;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060080;inhibitory postsynaptic potential;IEA|GO:0095500;acetylcholine receptor signaling pathway;IEA|GO:0098655;cation transmembrane transport;IBA GO:0005886;plasma membrane;TAS|GO:0005892;acetylcholine-gated channel complex;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015464;acetylcholine receptor activity;IDA|GO:0022848;acetylcholine-gated cation-selective channel activity;IDA|GO:0042166;acetylcholine binding;IC http://www.genecards.org/index.php?path=/Search/keyword/CHRNA4 https://www.uniprot.org/uniprot/P43681 https://hpo.jax.org/app/browse/search?q=CHRNA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=118504 http://www.informatics.jax.org/searchtool/Search.do?query=CHRNA4&submit=Quick%0D%2681ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRNA4 rs6090387 0.580871 0.8131 0.6409 1 0 0 ncRNA_intronic UTR5 ncRNA_intronic LOC100130587 CHRNA4(uc002yev.2:c.-10313C>G,uc002yes.3:c.-30C>G,uc010gkf.2:c.-10313C>G) ENSG00000203900 Na Na Na Na Na Na Het;G>C 281;2|12 Het;G>C 94;13|7 Hom;G>C 151;0|7 N N - 20 62162340 62162340 T C snp intronic PTK6 Ptk6 ENSG00000101213 protein tyrosine kinase 6 chr20:62159778-62168723 The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation. PTK6 promotes HIF1A stabilization GO:0006468;protein phosphorylation;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007260;tyrosine phosphorylation of STAT protein;IDA|GO:0009968;negative regulation of signal transduction;TAS|GO:0010976;positive regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IDA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045787;positive regulation of cell cycle;TAS|GO:0045926;negative regulation of growth;IEA|GO:0046777;protein autophosphorylation;IMP|GO:0060575;intestinal epithelial cell differentiation;IEA|GO:0061099;negative regulation of protein tyrosine kinase activity;IDA|GO:0071300;cellular response to retinoic acid;IMP GO:0001726;ruffle;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTK6 https://www.uniprot.org/uniprot/Q13882 https://www.ncbi.nlm.nih.gov/omim/?term=602004 http://www.informatics.jax.org/searchtool/Search.do?query=PTK6&submit=Quick%0D%2683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTK6 rs191090 0.726637 0 0 1 0 0 intronic intronic intronic PTK6 PTK6 ENSG00000101213 Na Na Na Na Na Na Het;T>C 548;12|18 Het;T>C 638;5|22 Hom;T>C 1089;0|32 N N - 20 62172219 62172219 G A snp synonymous SNV C1419T F473F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral SRMS Srms ENSG00000125508 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites chr20:62172163-62178857 Homozygous mice exhibit no detectable abnormalities. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009968;negative regulation of signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IDA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRMS https://www.uniprot.org/uniprot/Q9H3Y6 http://www.informatics.jax.org/searchtool/Search.do?query=SRMS&submit=Quick%0D%5789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRMS rs6122130 0.369808 0.1646 0.3182 1 0 0 exonic exonic exonic SRMS SRMS ENSG00000125508 synonymous SNV synonymous SNV unknown SRMS:NM_080823:exon8:c.C1419T:p.F473F, SRMS:uc002yfi.1:exon8:c.C1419T:p.F473F, UNKNOWN Het;G>A 1306;77|59 Het;G>A 1381;53|67 Hom;G>A 3883;1|145 N N - 20 62173562 62173562 G T snp synonymous SNV C900A I300I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SRMS Srms ENSG00000125508 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites chr20:62172163-62178857 Homozygous mice exhibit no detectable abnormalities. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009968;negative regulation of signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IDA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRMS https://www.uniprot.org/uniprot/Q9H3Y6 http://www.informatics.jax.org/searchtool/Search.do?query=SRMS&submit=Quick%0D%5789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRMS rs56130722 0.370008 0.1644 0.3176 1 0 0 exonic exonic exonic SRMS SRMS ENSG00000125508 synonymous SNV synonymous SNV unknown SRMS:NM_080823:exon5:c.C900A:p.I300I, SRMS:uc002yfi.1:exon5:c.C900A:p.I300I, UNKNOWN Het;G>T 1091;58|48 Het;G>T 1387;75|62 Hom;G>T 3036;0|106 N N - 20 62174724 62174724 G A snp synonymous SNV C588T Y196Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic SRMS Srms ENSG00000125508 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites chr20:62172163-62178857 Homozygous mice exhibit no detectable abnormalities. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009968;negative regulation of signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IDA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;EXP|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRMS https://www.uniprot.org/uniprot/Q9H3Y6 http://www.informatics.jax.org/searchtool/Search.do?query=SRMS&submit=Quick%0D%5789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRMS rs4809309 0.36901 0.162 0.3162 1 0 0 exonic exonic exonic SRMS SRMS ENSG00000125508 synonymous SNV synonymous SNV unknown SRMS:NM_080823:exon3:c.C588T:p.Y196Y, SRMS:uc002yfi.1:exon3:c.C588T:p.Y196Y, UNKNOWN Het;G>A 1251;38|55 Het;G>A 553;55|31 Hom;G>A 2583;0|98 N N - 20 62272658 62272658 T C snp UTR3 *33A>G STMN3 Stmn3 ENSG00000197457 stathmin 3 chr20:62271061-62284780 This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] GO:0007019;microtubule depolymerization;IBA|GO:0007399;nervous system development;TAS|GO:0031110;regulation of microtubule polymerization or depolymerization;IEA|GO:0031122;cytoplasmic microtubule organization;IEA|GO:0031175;neuron projection development;IEA|GO:0035021;negative regulation of Rac protein signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0051493;regulation of cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IBA GO:0015631;tubulin binding;IBA|GO:0019904;protein domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STMN3 https://www.ncbi.nlm.nih.gov/omim/?term=608362 http://www.informatics.jax.org/searchtool/Search.do?query=STMN3&submit=Quick%0D%16633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STMN3 rs2150910 0.849241 0.9182 0.8566 1 0 0 UTR3 UTR3 UTR3 STMN3(NM_015894:c.*33A>G,NM_001276310:c.*33A>G) STMN3(uc031ruo.1:c.*33A>G,uc002yfr.2:c.*33A>G) ENSG00000197457(ENST00000370053:c.*33A>G,ENST00000540534:c.*33A>G) Na Na Na Na Na Na Het;T>C 2168;172|103 Het;T>C 3150;149|138 Hom;T>C 6874;0|259 N N - 20 62576991 62576991 G A snp intronic UCKL1 Uckl1 ENSG00000198276 uridine-cytidine kinase 1 like 1 chr20:62571186-62587769 The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Pyrimidine salvage GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0006222;UMP biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0009116;nucleoside metabolic process;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UCKL1 https://www.ncbi.nlm.nih.gov/omim/?term=610866 http://www.informatics.jax.org/searchtool/Search.do?query=UCKL1&submit=Quick%0D%16861ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCKL1 rs2252258 0.341254 0.3387 0.2901 1 0 0 intronic intronic intronic UCKL1 UCKL1 ENSG00000198276 Na Na Na Na Na Na Het;G>A 791;38|33 Het;G>A 647;26|27 Hom;G>A 2085;0|69 N N - 20 62586262 62586262 T C snp ncRNA_exonic UCKL1-AS1 rs817318 0.304313 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic UCKL1-AS1 UCKL1-AS1 ENSG00000198276 Na Na Na Na Na Na Het;T>C 927;82|41 Het;T>C 1274;48|57 Hom;T>C 2484;2|88 N N - 20 62595169 62595169 A G snp synonymous SNV T1578C L526L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF512B Zfp512b ENSG00000196700 zinc finger protein 512B chr20:62588055-62680113 HIV Infections|[X]Human immunodeficiency virus disease GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF512B http://www.informatics.jax.org/searchtool/Search.do?query=ZNF512B&submit=Quick%0D%16443ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF512B rs817325 0.492412 0.6256 0.5364 1 0 0 exonic exonic exonic ZNF512B ZNF512B ENSG00000196700 synonymous SNV synonymous SNV unknown ZNF512B:NM_020713:exon9:c.T1578C:p.L526L, ZNF512B:uc002yhl.2:exon9:c.T1578C:p.L526L, UNKNOWN Het;A>G 4101;172|179 Het;A>G 3564;123|146 Hom;A>G 9973;2|364 N N - 20 62597374 62597466 TTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC T indel intronic ZNF512B Zfp512b ENSG00000196700 zinc finger protein 512B chr20:62588055-62680113 HIV Infections|[X]Human immunodeficiency virus disease GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF512B http://www.informatics.jax.org/searchtool/Search.do?query=ZNF512B&submit=Quick%0D%16443ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF512B Na 0.589657 0 0 1 0 0 intronic intronic intronic ZNF512B ZNF512B ENSG00000196700 Na Na Na Na Na Na Het;-TCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC 314;23|10 Het;-TCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC 350;25|11 Hom;-TCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC 419;0|10 N N - 20 62597694 62597694 T G snp synonymous SNV A834C V278V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF512B Zfp512b ENSG00000196700 zinc finger protein 512B chr20:62588055-62680113 HIV Infections|[X]Human immunodeficiency virus disease GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF512B http://www.informatics.jax.org/searchtool/Search.do?query=ZNF512B&submit=Quick%0D%16443ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF512B rs817329 0.490415 0.6249 0.5354 1 0 0 exonic exonic exonic ZNF512B ZNF512B ENSG00000196700 synonymous SNV synonymous SNV unknown ZNF512B:NM_020713:exon5:c.A834C:p.V278V, ZNF512B:uc002yhl.2:exon5:c.A834C:p.V278V, UNKNOWN Het;T>G 6678;278|266 Het;T>G 5604;168|226 Hom;T>G 10453;3|360 N N - 20 62598815 62598815 C T snp synonymous SNV G183A P61P hydrophobic,neutral hydrophobic,neutral ZNF512B Zfp512b ENSG00000196700 zinc finger protein 512B chr20:62588055-62680113 HIV Infections|[X]Human immunodeficiency virus disease GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF512B http://www.informatics.jax.org/searchtool/Search.do?query=ZNF512B&submit=Quick%0D%16443ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF512B rs817330 0.319089 0.3975 0.3614 1 0 0 exonic exonic exonic ZNF512B ZNF512B ENSG00000196700 synonymous SNV synonymous SNV unknown ZNF512B:NM_020713:exon3:c.G183A:p.P61P, ZNF512B:uc002yhl.2:exon3:c.G183A:p.P61P, UNKNOWN Het;C>T 4305;206|185 Het;C>T 3534;155|162 Hom;C>T 9458;4|360 N N - 20 62914899 62914899 A T snp intronic PCMTD2 Pcmtd2 ENSG00000280663 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 chr20:62887094-62926855 GO:0006464;cellular protein modification process;IEA|GO:0006479;protein methylation;IEA|GO:0032259;methylation;IEA GO:0005737;cytoplasm;IEA GO:0004719;protein-L-isoaspartate (D-aspartate) O-methyltransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PCMTD2 http://www.informatics.jax.org/searchtool/Search.do?query=PCMTD2&submit=Quick%0D%22231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCMTD2 rs1806952 0.702676 0 0 1 0 0 intergenic intergenic intronic PCMTD2(dist=7320),LINC00266-1(dist=6839) PCMTD2(dist=7320),DQ590432(dist=5084) ENSG00000203880 Na Na Na Na Na Na Het;A>T 293;2|13 Het;A>T 140;6|7 Hom;A>T 421;0|16 N N - 21 10599570 10599570 T C snp intergenic TEKT4P2 rs71251615 0 0 0 1 0 0 intergenic intergenic intergenic TEKT4P2(dist=630976),TPTE(dist=306617) AK311573(dist=2128),TPTE(dist=307173) ENSG00000270533(dist=123509),ENSG00000169861(dist=263052) Na Na Na Na Na Na Het;T>C 47;11|3 Het;T>C 217;2|11 Hom;T>C 305;0|13 N N - 21 10813801 10813801 G T snp intergenic TEKT4P2 rs28970375 0.52476 0 0 1 0 0 intergenic intergenic intergenic TEKT4P2(dist=845207),TPTE(dist=92386) AK311573(dist=216359),TPTE(dist=92942) ENSG00000270533(dist=337740),ENSG00000169861(dist=48821) Na Na Na Na Na Na Het;G>T 78;2|4 Ref Hom;G>T 447;0|19 N N - 21 10899173 10899173 T C snp ncRNA_exonic ENSG00000223925 rs616160 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic TEKT4P2(dist=930579),TPTE(dist=7014) AK311573(dist=301731),TPTE(dist=7570) ENSG00000223925 Na Na Na Na Na Na Het;T>C 1955;30|78 Het;T>C 1312;19|54 Hom;T>C 2733;0|99 N N - 21 10900557 10900557 G A snp downstream ENSG00000223925 rs57568097 0 0 0 1 0 0 intergenic intergenic downstream TEKT4P2(dist=931963),TPTE(dist=5630) AK311573(dist=303115),TPTE(dist=6186) ENSG00000223925 Na Na Na Na Na Na Het;G>A 864;9|28 Het;G>A 240;7|11 Hom;G>A 547;0|19 N N - 21 10989144 10989144 T TA indel intronic TPTE Tpte ENSG00000274391 transmembrane phosphatase with tensin homology chr21:10906201-11029719 This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Chronic renal failure|Kidney Failure, Chronic Synthesis of PIPs at the Golgi membrane GO:0006470;protein dephosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPTE https://www.ncbi.nlm.nih.gov/omim/?term=604336 http://www.informatics.jax.org/searchtool/Search.do?query=TPTE&submit=Quick%0D%21108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE rs34721273 0.635383 0 0 1 0 0 intronic intronic intronic TPTE TPTE ENSG00000166157 Na Na Na Na Na Na Het;+A 602;10|27 Het;+A 646;7|28 Hom;+A 1251;0|46 N N - 21 10990525 10990525 A G snp intronic TPTE Tpte ENSG00000274391 transmembrane phosphatase with tensin homology chr21:10906201-11029719 This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Chronic renal failure|Kidney Failure, Chronic Synthesis of PIPs at the Golgi membrane GO:0006470;protein dephosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPTE https://www.ncbi.nlm.nih.gov/omim/?term=604336 http://www.informatics.jax.org/searchtool/Search.do?query=TPTE&submit=Quick%0D%21108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE rs403418 0 0 0 1 0 0 intronic intronic intronic TPTE TPTE ENSG00000166157 Na Na Na Na Na Na Het;A>G 34;1|3 Ref Hom;A>G 158;0|6 N N - 21 10990745 10990745 C T snp intronic TPTE Tpte ENSG00000274391 transmembrane phosphatase with tensin homology chr21:10906201-11029719 This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Chronic renal failure|Kidney Failure, Chronic Synthesis of PIPs at the Golgi membrane GO:0006470;protein dephosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPTE https://www.ncbi.nlm.nih.gov/omim/?term=604336 http://www.informatics.jax.org/searchtool/Search.do?query=TPTE&submit=Quick%0D%21108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE rs411968 0 0 0 1 0 0 intronic intronic intronic TPTE TPTE ENSG00000166157 Na Na Na Na Na Na Het;C>T 455;5|15 Het;C>T 99;1|6 Hom;C>T 272;1|7 N N - 21 10990755 10990755 G A snp intronic TPTE Tpte ENSG00000274391 transmembrane phosphatase with tensin homology chr21:10906201-11029719 This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Chronic renal failure|Kidney Failure, Chronic Synthesis of PIPs at the Golgi membrane GO:0006470;protein dephosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPTE https://www.ncbi.nlm.nih.gov/omim/?term=604336 http://www.informatics.jax.org/searchtool/Search.do?query=TPTE&submit=Quick%0D%21108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE rs463608 0 0 0 1 0 0 intronic intronic intronic TPTE TPTE ENSG00000166157 Na Na Na Na Na Na Het;G>A 227;11|11 Ref Hom;G>A 272;1|7 N N - 21 10991037 10991037 A G snp upstream TPTE Tpte ENSG00000274391 transmembrane phosphatase with tensin homology chr21:10906201-11029719 This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Chronic renal failure|Kidney Failure, Chronic Synthesis of PIPs at the Golgi membrane GO:0006470;protein dephosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPTE https://www.ncbi.nlm.nih.gov/omim/?term=604336 http://www.informatics.jax.org/searchtool/Search.do?query=TPTE&submit=Quick%0D%21108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPTE rs469893 0 0 0 1 0 0 upstream upstream upstream TPTE TPTE ENSG00000166157 Na Na Na Na Na Na Het;A>G 92;1|4 Het;A>G 115;7|4 Hom;A>G 57;1|3 N N - 21 10995994 10995994 A AG indel downstream BAGE2 rs76206987 0 0 0 1 0 0 intergenic intergenic downstream TPTE(dist=5051),BAGE2(dist=24848) TPTE(dist=5074),NONE(dist=NONE) ENSG00000187172 Na Na Na Na Na Na Het;+G 2653;20|79 Het;+G 2451;22|73 Hom;+G 4071;1|109 N N - 21 10998165 10998165 C A snp ncRNA_intronic BAGE2 rs364232 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic TPTE(dist=7222),BAGE2(dist=22677) TPTE(dist=7245),NONE(dist=NONE) ENSG00000187172 Na Na Na Na Na Na Het;C>A 1756;20|67 Het;C>A 2038;27|76 Hom;C>A 2537;0|87 N N - 21 11082213 11082213 A G snp ncRNA_intronic BAGE2 rs4444628 0.509984 0 0 1 0 0 intronic intronic ncRNA_intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 BAGE,BAGE3 ENSG00000187172 Na Na Na Na Na Na Het;A>G 170;4|5 Het;A>G 845;3|21 Hom;A>G 593;1|15 N N - 21 11097830 11097830 A C snp ncRNA_intronic BAGE2 rs77330564 0 0 0 1 0 0 intronic intronic ncRNA_intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 BAGE,BAGE3 ENSG00000187172 Na Na Na Na Na Na Het;A>C 671;5|17 Het;A>C 1089;5|25 Hom;A>C 714;1|16 N N - 21 11097831 11097831 G C snp ncRNA_intronic BAGE2 rs78866140 0 0 0 1 0 0 intronic intronic ncRNA_intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 BAGE,BAGE3 ENSG00000187172 Na Na Na Na Na Na Het;G>C 671;5|17 Het;G>C 1059;5|25 Hom;G>C 682;1|16 N N - 21 11100457 11100457 A T snp intergenic BAGE rs1810405 0.567692 0 0 1 0 0 intergenic intergenic intergenic BAGE(dist=1520),NONE(dist=NONE) BAGE3(dist=1520),NONE(dist=NONE) ENSG00000187172(dist=1477),ENSG00000231962(dist=53380) Na Na Na Na Na Na Het;A>T 175;1|7 Ref Hom;A>T 71;0|4 N N - 21 11124187 11124187 C T snp intergenic BAGE rs12626566 0.593051 0 0 1 0 0 intergenic intergenic intergenic BAGE(dist=25250),NONE(dist=NONE) BAGE3(dist=25250),NONE(dist=NONE) ENSG00000187172(dist=25207),ENSG00000231962(dist=29650) Na Na Na Na Na Na Het;C>T 260;2|7 Het;C>T 225;9|7 Hom;C>T 422;0|9 N N - 21 15218287 15218287 A AT indel ncRNA_intronic C21orf15 rs35082157 0.630591 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CYP4F29P C21orf15 ENSG00000228314 Na Na Na Na Na Na Het;+T 363;33|14 Het;+T 209;30|9 Hom;+T 1092;0|28 N N - 21 15219323 15219323 T C snp ncRNA_exonic CYP4F29P rs2904341 0.622604 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic CYP4F29P C21orf15 ENSG00000228314 Na Na Na Na Na Na Het;T>C 1915;67|80 Het;T>C 1282;75|56 Hom;T>C 2664;7|102 N N - 21 15220158 15220158 A C snp ncRNA_intronic C21orf15 rs2942531 0.638379 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CYP4F29P C21orf15 ENSG00000228314 Na Na Na Na Na Na Het;A>C 578;80|24 Het;A>C 351;75|18 Hom;A>C 1211;0|40 N N - 21 15456403 15456403 T A snp ncRNA_exonic BC024173 rs62209955 0.130591 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic ANKRD20A11P(dist=103638),LIPI(dist=24732) BC024173,BC048201 ENSG00000224905 Na Na Na Na Na Na Het;T>A 80;5|5 Ref Hom;T>A 234;0|9 N N - 21 15481168 15481168 C A snp UTR3 *146G>T LIPI Lipi ENSG00000188992 lipase I chr21:15481134-15583166 The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] HYPERTRIGLYCERIDEMIA FAMILIAL Mice homozygous for a transgenic gene disruption exhibit postnatal lethality, tremors, abnormal gait, decreased body weight, retarded hair growth, and a defect in triglyceride metabolism resulting in hypertriglyceridemia and hepatic steatosis. Synthesis of PA GO:0006629;lipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0016042;lipid catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;TAS|GO:0008201;heparin binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIPI https://www.ncbi.nlm.nih.gov/omim/?term=609252 http://www.informatics.jax.org/searchtool/Search.do?query=LIPI&submit=Quick%0D%16152ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPI rs62208635 0.130192 0 0 1 0 0 UTR3 ncRNA_intronic ncRNA_intronic LIPI(NM_001302998:c.*146G>T,NM_198996:c.*146G>T,NM_001302999:c.*146G>T,NM_001303001:c.*112G>T,NM_001303000:c.*146G>T) BC024173,BC048201 ENSG00000224905 Na Na Na Na Na Na Het;C>A 347;13|12 Het;C>A 200;14|8 Hom;C>A 460;0|13 N N - 21 15599765 15599765 T C snp UTR3 *151T>C RBM11 Rbm11 ENSG00000185272 RNA binding motif protein 11 chr21:15588451-15600693 GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IDA|GO:0006397;mRNA processing;IEA|GO:0007275;multicellular organism development;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/RBM11 http://www.informatics.jax.org/searchtool/Search.do?query=RBM11&submit=Quick%0D%15383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM11 rs2822445 0.457069 0 0 1 0 0 UTR3 UTR3 UTR3 RBM11(NM_144770:c.*151T>C) RBM11(uc002yjo.4:c.*151T>C,uc002yjn.4:c.*151T>C,uc002yjp.4:c.*151T>C) ENSG00000185272(ENST00000400577:c.*151T>C) Na Na Na Na Na Na Het;T>C 1380;64|62 Het;T>C 1200;59|53 Hom;T>C 3694;2|130 N N - 21 15600417 15600417 A G snp UTR3 *803A>G RBM11 Rbm11 ENSG00000185272 RNA binding motif protein 11 chr21:15588451-15600693 GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IDA|GO:0006397;mRNA processing;IEA|GO:0007275;multicellular organism development;IEA|GO:0008380;RNA splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0034599;cellular response to oxidative stress;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/RBM11 http://www.informatics.jax.org/searchtool/Search.do?query=RBM11&submit=Quick%0D%15383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM11 rs2822449 0.45647 0 0 1 0 0 UTR3 UTR3 UTR3 RBM11(NM_144770:c.*803A>G) RBM11(uc002yjo.4:c.*803A>G,uc002yjn.4:c.*803A>G,uc002yjp.4:c.*803A>G) ENSG00000185272(ENST00000400577:c.*803A>G) Na Na Na Na Na Na Het;A>G 908;54|33 Het;A>G 951;31|37 Hom;A>G 2864;0|94 N N - 21 17443017 17443017 T C snp ncRNA_intronic LINC00478 rs2823596 0.421126 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MIR99AHG LINC00478 ENSG00000215386 Na Na Na Na Na Na Het;T>C 325;8|11 Het;T>C 47;7|3 Hom;T>C 371;0|11 N N - 21 18932934 18932934 T A snp intronic CXADR Cxadr ENSG00000154639 CXADR, Ig-like cell adhesion molecule chr21:18884700-18965897 The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011] Tobacco Use Disorder; Cardiomyopathy, Dilated|Coxsackievirus Infections; Anterior Wall Myocardial Infarction|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Disease Susceptibility|Heart Arrest|Myocardial Infarction|Sudden Cardiac Death|Ventricular Fibrillation; adenoviral infection and decreased lung function Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging. Cell surface interactions at the vascular wall GO:0007005;mitochondrion organization;ISS|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0007507;heart development;ISS|GO:0008354;germ cell migration;ISS|GO:0010669;epithelial structure maintenance;IMP|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0045216;cell-cell junction organization;ISS|GO:0046629;gamma-delta T cell activation;ISS|GO:0046718;viral entry into host cell;IEA|GO:0048739;cardiac muscle fiber development;ISS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0070633;transepithelial transport;IMP|GO:0086067;AV node cell to bundle of His cell communication;ISS|GO:0086072;AV node cell-bundle of His cell adhesion involved in cell communication;ISS|GO:0098904;regulation of AV node cell action potential;ISS GO:0001669;acrosomal vesicle;ISS|GO:0005576;extracellular region;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0030175;filopodium;ISS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0045121;membrane raft;IDA GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0050839;cell adhesion molecule binding;IPI|GO:0071253;connexin binding;ISS|GO:0086082;cell adhesive protein binding involved in AV node cell-bundle of His cell communication;IC http://www.genecards.org/index.php?path=/Search/keyword/CXADR https://www.uniprot.org/uniprot/P78310 https://www.ncbi.nlm.nih.gov/omim/?term=602621 http://www.informatics.jax.org/searchtool/Search.do?query=CXADR&submit=Quick%0D%9788ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CXADR rs979190 0.644369 0 0 1 0 0 intronic intronic intronic CXADR CXADR ENSG00000154639 Na Na Na Na Na Na Het;T>A 288;27|15 Het;T>A 508;9|21 Hom;T>A 1068;0|37 N N - 21 18938176 18938176 G A snp UTR3 *166G>A CXADR Cxadr ENSG00000154639 CXADR, Ig-like cell adhesion molecule chr21:18884700-18965897 The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011] Tobacco Use Disorder; Cardiomyopathy, Dilated|Coxsackievirus Infections; Anterior Wall Myocardial Infarction|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Disease Susceptibility|Heart Arrest|Myocardial Infarction|Sudden Cardiac Death|Ventricular Fibrillation; adenoviral infection and decreased lung function Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging. Cell surface interactions at the vascular wall GO:0007005;mitochondrion organization;ISS|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0007507;heart development;ISS|GO:0008354;germ cell migration;ISS|GO:0010669;epithelial structure maintenance;IMP|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0045216;cell-cell junction organization;ISS|GO:0046629;gamma-delta T cell activation;ISS|GO:0046718;viral entry into host cell;IEA|GO:0048739;cardiac muscle fiber development;ISS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS|GO:0070633;transepithelial transport;IMP|GO:0086067;AV node cell to bundle of His cell communication;ISS|GO:0086072;AV node cell-bundle of His cell adhesion involved in cell communication;ISS|GO:0098904;regulation of AV node cell action potential;ISS GO:0001669;acrosomal vesicle;ISS|GO:0005576;extracellular region;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0030175;filopodium;ISS|GO:0030426;growth cone;ISS|GO:0043005;neuron projection;ISS|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0045121;membrane raft;IDA GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0050839;cell adhesion molecule binding;IPI|GO:0071253;connexin binding;ISS|GO:0086082;cell adhesive protein binding involved in AV node cell-bundle of His cell communication;IC http://www.genecards.org/index.php?path=/Search/keyword/CXADR https://www.uniprot.org/uniprot/P78310 https://www.ncbi.nlm.nih.gov/omim/?term=602621 http://www.informatics.jax.org/searchtool/Search.do?query=CXADR&submit=Quick%0D%9788ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CXADR rs2245943 0.436701 0 0 1 0 0 UTR3 UTR3 UTR3 CXADR(NM_001207065:c.*371G>A,NM_001207064:c.*243G>A,NM_001207063:c.*243G>A,NM_001338:c.*166G>A) CXADR(uc002yki.3:c.*166G>A,uc002ykh.2:c.*243G>A,uc010gld.2:c.*243G>A,uc010gle.2:c.*371G>A,uc021whp.1:c.*166G>A) ENSG00000154639(ENST00000284878:c.*166G>A) Na Na Na Na Na Na Het;G>A 572;12|18 Het;G>A 213;14|9 Hom;G>A 683;0|23 N N - 21 20230102 20230102 C T snp ncRNA_exonic PPIAP22 rs2825212 0.276358 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101927797(dist=97972),LINC00320(dist=1884806) BC051441(dist=97972),LINC00320(dist=1884811) ENSG00000198618 Na Na Na Na Na Na Het;C>T 265;10|12 Ref Hom;C>T 396;0|16 N N - 21 21560492 21560492 C T snp intergenic LOC101927797 rs2826067 0.884784 0 0 1 0 0 intergenic intergenic intergenic LOC101927797(dist=1428362),LINC00320(dist=554416) BC051441(dist=1428362),LINC00320(dist=554421) ENSG00000233480(dist=288423),ENSG00000233236(dist=68573) Na Na Na Na Na Na Het;C>T 509;25|23 Het;C>T 192;23|12 Hom;C>T 1285;0|48 N N - 21 23639021 23639030 GTCAAAATCT G indel ncRNA_intronic AP000561.1 rs67067135 0.514577 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00308(dist=150174),D21S2088E(dist=1094396) Z49979(dist=98287),D21S2088E(dist=1094396) ENSG00000226043 Na Na Na Na Na Na Het;-TCAAAATCT 192;4|6 Ref Hom;-TCAAAATCT 188;0|5 N N - 21 24188857 24188857 A G snp intergenic LINC00308 rs1475902 0.570487 0 0 1 0 0 intergenic intergenic intergenic LINC00308(dist=700010),D21S2088E(dist=544569) Z49979(dist=648123),D21S2088E(dist=544569) ENSG00000263796(dist=135571),ENSG00000225906(dist=66046) Na Na Na Na Na Na Het;A>G 1212;92|59 Het;A>G 1211;86|59 Hom;A>G 2814;0|107 N N - 21 25145431 25145431 T G snp intergenic D21S2088E rs207535 0.34984 0 0 1 0 0 intergenic intergenic intergenic D21S2088E(dist=388275),LOC101927869(dist=531432) D21S2088E(dist=388275),AK124194(dist=655623) ENSG00000227716(dist=282388),ENSG00000231986(dist=115683) Na Na Na Na Na Na Het;T>G 484;16|22 Ref Hom;T>G 1296;2|49 N N - 21 25145524 25145524 C T snp intergenic D21S2088E rs207537 0.349641 0 0 1 0 0 intergenic intergenic intergenic D21S2088E(dist=388368),LOC101927869(dist=531339) D21S2088E(dist=388368),AK124194(dist=655530) ENSG00000227716(dist=282481),ENSG00000231986(dist=115590) Na Na Na Na Na Na Het;C>T 808;24|37 Ref Hom;C>T 1452;2|57 N N - 21 26020294 26020294 G T snp intergenic LOC101927869 rs2829220 0.350839 0 0 1 0 0 intergenic intergenic intergenic LOC101927869(dist=326604),LOC339622(dist=192570) AK124194(dist=157673),LOC339622(dist=192570) ENSG00000237484(dist=100038),ENSG00000226983(dist=192570) Na Na Na Na Na Na Het;G>T 985;71|48 Ref Hom;G>T 3580;2|139 N N - 21 26629980 26629980 C T snp ncRNA_intronic AP001341.1 rs2829670 0.434904 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC339622(dist=199924),LINC00158(dist=128153) 5S_rRNA(dist=55351),LINC00158(dist=128153) ENSG00000222042 Na Na Na Na Na Na Het;C>T 201;1|8 Ref Hom;C>T 388;0|13 N N - 21 27840297 27840297 G A snp UTR3 *523C>T CYYR1 Cyyr1 ENSG00000166265 cysteine and tyrosine rich 1 chr21:27838528-27945603 Exercise Test; Body Height; Forced Expiratory Volume; Hemoglobins; Neuroblastoma; Asthma; Walking; Waist-Hip Ratio; Occipital Lobe; Blood Pressure GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CYYR1 https://www.ncbi.nlm.nih.gov/omim/?term=616020 http://www.informatics.jax.org/searchtool/Search.do?query=CYYR1&submit=Quick%0D%11744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYYR1 rs2830239 0.571885 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CYYR1(NM_052954:c.*523C>T) CYYR1(uc002ymd.3:c.*523C>T,uc002yme.3:c.*523C>T) ENSG00000197934,ENSG00000232692 Na Na Na Na Na Na Het;G>A 1712;65|66 Het;G>A 1612;58|72 Hom;G>A 3275;0|114 N N - 21 27852884 27852884 C CT indel ncRNA_intronic CYYR1-AS1 rs140733070 0.567692 0 0 1 0 0 intronic intronic ncRNA_intronic CYYR1 CYYR1 ENSG00000197934 Na Na Na Na Na Na Het;+T 74;4|6 Ref Hom;+T 40;0|3 N N - 21 28788393 28788393 T C snp ncRNA_intronic BC043580 rs239656 0.586861 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MIR5009 BC043580 ENSG00000231236 Na Na Na Na Na Na Het;T>C 1169;61|56 Het;T>C 833;58|41 Hom;T>C 2640;0|101 N N - 21 28788481 28788484 GTGT G indel ncRNA_intronic BC043580 rs771836013 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MIR5009 BC043580 ENSG00000231236 Na Na Na Na Na Na Het;-TGT 168;9|17 Ref Hom;-TGT 1983;1|69 N N - 21 28788616 28788616 T C snp ncRNA_intronic BC043580 rs239654 0.594249 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MIR5009 BC043580 ENSG00000231236 Na Na Na Na Na Na Het;T>C 437;15|15 Het;T>C 86;7|4 Hom;T>C 401;0|12 N N - 21 29912452 29912452 C A snp ncRNA_exonic LINC00161 rs2150392 0.355032 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00161 LINC00161 ENSG00000226935 Na Na Na Na Na Na Het;C>A 1565;24|56 Het;C>A 1280;74|61 Hom;C>A 2394;1|86 N N - 21 29912733 29912733 C CTA indel downstream LINC00161 rs35351615 0 0 0 1 0 0 downstream downstream ncRNA_intronic LINC00161 BC101420,LINC00161 ENSG00000232855 Na Na Na Na Na Na Het;+TA 158;1|6 Het;+TA 206;2|8 Hom;+TA 235;0|8 N N - 21 30505909 30505909 G T snp intronic MAP3K7CL Map3k7cl ENSG00000156265 MAP3K7 C-terminal like chr21:30449792-30548210 GO:0000165;MAPK cascade;IEA|GO:0000186;activation of MAPKK activity;IBA GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA GO:0004709;MAP kinase kinase kinase activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP3K7CL https://www.uniprot.org/uniprot/P57077 https://www.ncbi.nlm.nih.gov/omim/?term=611110 http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K7CL&submit=Quick%0D%9961ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K7CL rs73192195 0.16274 0 0 1 0 0 intronic intronic intronic MAP3K7CL MAP3K7CL ENSG00000156265 Na Na Na Na Na Na Het;G>T 302;6|10 Ref Hom;G>T 248;0|7 N N - 21 31802768 31802768 G A snp nonsynonymous SNV G175A A59T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral KRTAP13-4 ENSG00000186971 keratin associated protein 13-4 chr21:31802572-31803216 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP13-4 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP13-4&submit=Quick%0D%15749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP13-4 rs2226548 0.551118 0.6034 0.5697 0.08 1 13 exonic exonic exonic KRTAP13-4 KRTAP13-4 ENSG00000186971 nonsynonymous SNV nonsynonymous SNV unknown KRTAP13-4:NM_181600:exon1:c.G175A:p.A59T, KRTAP13-4:uc011acw.2:exon1:c.G175A:p.A59T, UNKNOWN Het;G>A 2146;121|100 Het;G>A 1471;74|64 Hom;G>A 4831;0|174 N N - 21 31803159 31803159 T C snp UTR3 *83T>C KRTAP13-4 ENSG00000186971 keratin associated protein 13-4 chr21:31802572-31803216 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP13-4 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP13-4&submit=Quick%0D%15749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP13-4 rs1539783 0.60024 0 0 1 0 0 downstream downstream UTR3 KRTAP13-4 KRTAP13-4 ENSG00000186971(ENST00000334068:c.*83T>C) Na Na Na Na Na Na Het;T>C 223;8|9 Het;T>C 197;8|9 Hom;T>C 302;0|9 N N - 21 31812772 31812772 C A snp nonsynonymous SNV C127A L43M aliphatic,hydrophobic,neutral hydrophobic,neutral KRTAP15-1 Krtap15 ENSG00000186970 keratin associated protein 15-1 chr21:31812597-31813070 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP15-1 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP15-1&submit=Quick%0D%15748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP15-1 rs2832873 0.554113 0.6060 0.5698 0.38 5 13 exonic exonic exonic KRTAP15-1 KRTAP15-1 ENSG00000186970 nonsynonymous SNV nonsynonymous SNV unknown KRTAP15-1:NM_181623:exon1:c.C127A:p.L43M, KRTAP15-1:uc002yod.3:exon1:c.C127A:p.L43M, UNKNOWN Het;C>A 1095;64|50 Het;C>A 1449;59|66 Hom;C>A 4079;0|148 N N - 21 31859677 31859677 G A snp UTR5 -10C>T KRTAP19-2 ENSG00000186965 keratin associated protein 19-2 chr21:31859362-31859755 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-2 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-2&submit=Quick%0D%15746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-2 rs6516970 0.553714 0.5923 0.5675 1 0 0 upstream upstream UTR5 KRTAP19-2 KRTAP19-2 ENSG00000186965(ENST00000334055:c.-10C>T) Na Na Na Na Na Na Het;G>A 1177;51|51 Het;G>A 770;50|38 Hom;G>A 2340;0|83 N N - 21 31863847 31863847 G C snp UTR3 *183C>G KRTAP19-3 ENSG00000244025 keratin associated protein 19-3 chr21:31863782-31864275 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-3 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-3&submit=Quick%0D%19823ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-3 rs2251071 0.554313 0 0 1 0 0 UTR3 UTR3 UTR3 KRTAP19-3(NM_181609:c.*183C>G) KRTAP19-3(uc002yog.1:c.*183C>G) ENSG00000244025(ENST00000334063:c.*183C>G) Na Na Na Na Na Na Het;G>C 304;5|10 Het;G>C 91;6|4 Hom;G>C 172;0|6 N N - 21 31869286 31869286 T C snp nonsynonymous SNV A143G Y48C aromatic,polar,hydrophobic polar,hydrophobic,neutral KRTAP19-4 ENSG00000186967 keratin associated protein 19-4 chr21:31869142-31869451 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-4 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-4&submit=Quick%0D%15747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-4 rs2298437 0.614217 0.6357 0.5833 0.09 1 11 exonic exonic exonic KRTAP19-4 KRTAP19-4 ENSG00000186967 nonsynonymous SNV nonsynonymous SNV unknown KRTAP19-4:NM_181610:exon1:c.A143G:p.Y48C, KRTAP19-4:uc011acz.2:exon1:c.A143G:p.Y48C, UNKNOWN Het;T>C 1143;56|42 Het;T>C 1460;47|59 Hom;T>C 3300;0|114 N N - 21 31913981 31913982 AG A indel frameshift substitution 171_172T KRTAP19-6 ENSG00000186925 chr21:31913854-31914183 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-6 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-6&submit=Quick%0D%15741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-6 rs5843453 0.787141 0 0.7273 1 0 0 exonic;splicing exonic exonic KRTAP19-6;KRTAP19-6 KRTAP19-6 ENSG00000186925 frameshift substitution frameshift substitution unknown KRTAP19-6:NM_181612:exon1:c.171_172T, KRTAP19-6:uc002yok.1:exon1:c.171_172T, UNKNOWN Het;-G 1339;43|37 Het;-G 629;29|18 Hom;-G 2679;0|62 N N - 21 31914000 31914000 T A snp synonymous SNV A153T G51G aliphatic,neutral aliphatic,neutral KRTAP19-6 ENSG00000186925 chr21:31913854-31914183 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP19-6 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP19-6&submit=Quick%0D%15741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP19-6 rs1023364 0.747804 0.7344 0.7156 1 0 0 exonic exonic exonic KRTAP19-6 KRTAP19-6 ENSG00000186925 synonymous SNV synonymous SNV unknown KRTAP19-6:NM_001303120:exon1:c.A153T:p.G51G,KRTAP19-6:NM_181612:exon1:c.A153T:p.G51G, KRTAP19-6:uc002yok.1:exon1:c.A153T:p.G51G, UNKNOWN Het;T>A 1312;43|37 Het;T>A 577;30|18 Hom;T>A 2849;0|65 N N - 21 31964916 31964916 A C snp nonsynonymous SNV A152C Y51S aromatic,polar,hydrophobic polar,hydrophilic,neutral KRTAP6-3 ENSG00000212938 keratin associated protein 6-3 chr21:31964759-31965394 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP6-3 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP6-3&submit=Quick%0D%18072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP6-3 rs9305426 0.567093 0.6089 0.5978 0.36 4 11 exonic exonic exonic KRTAP6-3 KRTAP6-3 ENSG00000212938 nonsynonymous SNV nonsynonymous SNV unknown KRTAP6-3:NM_181605:exon1:c.A152C:p.Y51S, KRTAP6-3:uc002yom.3:exon1:c.A152C:p.Y51S, UNKNOWN Het;A>C 2488;121|105 Het;A>C 2466;87|102 Hom;A>C 5303;1|188 N N - 21 31973685 31973685 C T snp downstream KRTAP22-1 ENSG00000186924 keratin associated protein 22-1 chr21:31973414-31973612 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP22-1 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP22-1&submit=Quick%0D%15740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP22-1 rs1961491 0.522364 0 0 1 0 0 downstream downstream downstream KRTAP22-1 KRTAP22-1 ENSG00000186924 Na Na Na Na Na Na Het;C>T 494;15|19 Het;C>T 666;10|28 Hom;C>T 1470;0|51 N N - 21 32227792 32227792 A G snp intergenic KRTAP7-1 Krtap7-1 ENSG00000274749 keratin associated protein 7-1 (gene/pseudogene) chr21:32201357-32202078 Neurobehavioral Manifestations GO:0005882;intermediate filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP7-1 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP7-1&submit=Quick%0D%21191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP7-1 rs2833138 0.332668 0 0 1 0 0 intergenic intergenic intergenic KRTAP7-1(dist=25741),KRTAP11-1(dist=25172) KRTAP7-1(dist=25741),KRTAP11-1(dist=25172) ENSG00000184586(dist=25714),ENSG00000182591(dist=25174) Na Na Na Na Na Na Het;A>G 124;3|6 Ref Hom;A>G 227;0|7 N N - 21 32253513 32253513 A T snp nonsynonymous SNV T331A C111S polar,hydrophobic,neutral polar,hydrophilic,neutral KRTAP11-1 Krtap11-1 ENSG00000182591 keratin associated protein 11-1 chr21:32252966-32253874 Carotid Artery Diseases Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP11-1 https://www.ncbi.nlm.nih.gov/omim/?term=600064 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP11-1&submit=Quick%0D%14821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP11-1 rs9636845 0.17492 0.0675 0.1356 0.69 9 13 exonic exonic exonic KRTAP11-1 KRTAP11-1 ENSG00000182591 nonsynonymous SNV nonsynonymous SNV unknown KRTAP11-1:NM_175858:exon1:c.T331A:p.C111S, KRTAP11-1:uc002yov.3:exon1:c.T331A:p.C111S, UNKNOWN Het;A>T 3946;134|165 Het;A>T 3471;144|149 Hom;A>T 8874;1|319 N N - 21 32524852 32524852 A G snp intronic TIAM1 Tiam1 ENSG00000156299 T-cell lymphoma invasion and metastasis 1 chr21:32490734-32932290 Hip; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis; coronary spastic angina; Breath Tests; Obesity; Neuroblastoma Mice homozygous for a targeted null allele display resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy. Mice homozygous for a gene trap allele display anencephaly, exencephaly and/or neural tube defects. G alpha (12/13) signalling events GO:0003300;cardiac muscle hypertrophy;IEA|GO:0006915;apoptotic process;IEA|GO:0007160;cell-matrix adhesion;IMP|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010717;regulation of epithelial to mesenchymal transition;IDA|GO:0010718;positive regulation of epithelial to mesenchymal transition;NAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016477;cell migration;IMP|GO:0016601;Rac protein signal transduction;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:0072657;protein localization to membrane;IEA|GO:0090630;activation of GTPase activity;IDA|GO:0098989;NMDA selective glutamate receptor signaling pathway;IEA|GO:1904268;positive regulation of Schwann cell chemotaxis;IEA|GO:1904338;regulation of dopaminergic neuron differentiation;ISS|GO:1905274;regulation of modification of postsynaptic actin cytoskeleton;IEA|GO:1990138;neuron projection extension;IEA|GO:2000050;regulation of non-canonical Wnt signaling pathway;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0032587;ruffle membrane;IEA|GO:0036477;somatodendritic compartment;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0044295;axonal growth cone;IEA|GO:0044304;main axon;IEA|GO:0045202;synapse;IEA GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008289;lipid binding;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0048365;Rac GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIAM1 https://www.uniprot.org/uniprot/Q13009 https://www.ncbi.nlm.nih.gov/omim/?term=600687 http://www.informatics.jax.org/searchtool/Search.do?query=TIAM1&submit=Quick%0D%9967ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIAM1 rs9305453 0.878195 0 0 1 0 0 intronic intronic intronic TIAM1 TIAM1 ENSG00000156299 Na Na Na Na Na Na Het;A>G 217;20|12 Ref Hom;A>G 464;0|18 N N - 21 32525302 32525302 A C snp intronic TIAM1 Tiam1 ENSG00000156299 T-cell lymphoma invasion and metastasis 1 chr21:32490734-32932290 Hip; Tobacco Use Disorder; Amyotrophic Lateral Sclerosis; coronary spastic angina; Breath Tests; Obesity; Neuroblastoma Mice homozygous for a targeted null allele display resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy. Mice homozygous for a gene trap allele display anencephaly, exencephaly and/or neural tube defects. G alpha (12/13) signalling events GO:0003300;cardiac muscle hypertrophy;IEA|GO:0006915;apoptotic process;IEA|GO:0007160;cell-matrix adhesion;IMP|GO:0007165;signal transduction;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010717;regulation of epithelial to mesenchymal transition;IDA|GO:0010718;positive regulation of epithelial to mesenchymal transition;NAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016477;cell migration;IMP|GO:0016601;Rac protein signal transduction;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043507;positive regulation of JUN kinase activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:0072657;protein localization to membrane;IEA|GO:0090630;activation of GTPase activity;IDA|GO:0098989;NMDA selective glutamate receptor signaling pathway;IEA|GO:1904268;positive regulation of Schwann cell chemotaxis;IEA|GO:1904338;regulation of dopaminergic neuron differentiation;ISS|GO:1905274;regulation of modification of postsynaptic actin cytoskeleton;IEA|GO:1990138;neuron projection extension;IEA|GO:2000050;regulation of non-canonical Wnt signaling pathway;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005911;cell-cell junction;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0032587;ruffle membrane;IEA|GO:0036477;somatodendritic compartment;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0044295;axonal growth cone;IEA|GO:0044304;main axon;IEA|GO:0045202;synapse;IEA GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008289;lipid binding;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IDA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0048365;Rac GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIAM1 https://www.uniprot.org/uniprot/Q13009 https://www.ncbi.nlm.nih.gov/omim/?term=600687 http://www.informatics.jax.org/searchtool/Search.do?query=TIAM1&submit=Quick%0D%9967ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIAM1 rs723470 0.792732 0 0 1 0 0 intronic intronic intronic TIAM1 TIAM1 ENSG00000156299 Na Na Na Na Na Na Het;A>C 207;29|11 Het;A>C 506;5|17 Hom;A>C 826;0|27 N N - 21 34398178 34398178 C G snp upstream OLIG2 Olig2 ENSG00000205927 oligodendrocyte transcription factor 2 chr21:34398153-34401504 This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008] Alzheimer's disease ; schizophrenia; obsessive compulsive disorder Tourette syndrome Homozygous mutation of this gene results in neonatal lethality, impaired development of motoneurons and oligodendrocytes, aphagia, hypotonia, and abnormal posture and breathing. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021529;spinal cord oligodendrocyte cell differentiation;IEA|GO:0021530;spinal cord oligodendrocyte cell fate specification;IEA|GO:0021778;oligodendrocyte cell fate specification;IEA|GO:0021794;thalamus development;IEA|GO:0030182;neuron differentiation;IEA|GO:0042552;myelination;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA|GO:0071837;HMG box domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OLIG2 https://www.ncbi.nlm.nih.gov/omim/?term=606386 http://www.informatics.jax.org/searchtool/Search.do?query=OLIG2&submit=Quick%0D%17587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OLIG2 rs2009130 0.688299 0 0 1 0 0 upstream upstream ncRNA_intronic OLIG2 OLIG2 ENSG00000227757 Na Na Na Na Na Na Het;C>G 85;3|5 Het;C>G 51;5|5 Hom;C>G 71;0|4 N N - 21 35736384 35736384 G A snp UTR5 -6394G>A KCNE2 Kcne2 ENSG00000159197 potassium voltage-gated channel subfamily E regulatory subunit 2 chr21:35736323-35743688 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008] Death, Sudden, Cardiac|Sudden Cardiac Death; Type 2 Diabetes| edema | rosiglitazone; EKG, abnormal; atriventricular block long QT syndrome; myocardial infarction (early onset); Diabetes Mellitus, Type 2|Long QT Syndrome; long QT syndrome; Arrhythmias, Cardiac|Brugada Syndrome|Cardiomyopathies|Channelopathies|Death, Sudden, Cardiac|Sudden Cardiac Death; Brugada Syndrome|Chromosome Deletion|Death, Sudden, Cardiac|Long QT Syndrome|Sudden Cardiac Death; Migraine without Aura; Long QT Syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; Gastroparesis; SIDS/sudden infant death syndrome; Coronary Artery Disease; null; long-QT syndrome; Long QT Syndrome|Sudden Infant Death; Atrioventricular Block|Death, Sudden|Syncope|Torsades de Pointes Mice homozygous for a knock-out allele show enlarged stomachs, reduced parietal cell proton secretion, altered parietal cell morphology, achlorhydria, hypergastrinemia, gastric hyperplasia, and increased gastric pH. Males homozygous for a different knock-out allele develop iron-deficient anemia. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007568;aging;IEA|GO:0010107;potassium ion import;IMP|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0043586;tongue development;IEA|GO:0060306;regulation of membrane repolarization;IDA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071435;potassium ion export;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:0086009;membrane repolarization;IDA|GO:0086011;membrane repolarization during action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098915;membrane repolarization during ventricular cardiac muscle cell action potential;IMP|GO:1901379;regulation of potassium ion transmembrane transport;IDA|GO:1901387;positive regulation of voltage-gated calcium channel activity;IEA|GO:1901800;positive regulation of proteasomal protein catabolic process;IDA|GO:1901979;regulation of inward rectifier potassium channel activity;IDA|GO:1902159;regulation of cyclic nucleotide-gated ion channel activity;IEA|GO:1902259;regulation of delayed rectifier potassium channel activity;IDA|GO:1902260;negative regulation of delayed rectifier potassium channel activity;IDA|GO:1903817;negative regulation of voltage-gated potassium channel activity;IEA GO:0005764;lysosome;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005251;delayed rectifier potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0044325;ion channel binding;IDA|GO:1902282;voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;IMP http://www.genecards.org/index.php?path=/Search/keyword/KCNE2 https://hpo.jax.org/app/browse/search?q=KCNE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603796 http://www.informatics.jax.org/searchtool/Search.do?query=KCNE2&submit=Quick%0D%10297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNE2 rs41260744 0.106629 0 0 1 0 0 UTR5 UTR5 UTR5 KCNE2(NM_172201:c.-6394G>A) KCNE2(uc002ytt.1:c.-6394G>A) ENSG00000159197(ENST00000290310:c.-6394G>A) Na Na Na Na Na Na Het;G>A 843;46|41 Ref Hom;G>A 2414;0|91 N N - 21 36410221 36410221 C CT indel intronic RUNX1 Runx1 ENSG00000159216 runt related transcription factor 1 chr21:36160098-37376965 Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; myeloblastic leukemias; Pancreatic Neoplasms; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Stroke; Bone Mineral Density; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; Phospholipids; diabetes, type 1; schizophrenia; Leukemia, Myelomonocytic, Chronic; Vitamin D; Arthritis, Rheumatoid; asthma; leukemia; lupus erythematosus; chronic myelomonocytic leukemia; Hepatopulmonary Syndrome|Liver Cirrhosis; Bilirubin; rheumatoid arthritis; Colitis, Ulcerative|Crohn Disease|; prostate cancer; Esophageal Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Leukemia, Myeloid, Acute; psoriasis Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. RUNX3 regulates p14-ARF GO:0001503;ossification;IBA|GO:0002062;chondrocyte differentiation;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IDA|GO:0030854;positive regulation of granulocyte differentiation;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS|GO:0071425;hematopoietic stem cell proliferation;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000975;regulatory region DNA binding;IDA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RUNX1 https://hpo.jax.org/app/browse/search?q=RUNX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=151385 http://www.informatics.jax.org/searchtool/Search.do?query=RUNX1&submit=Quick%0D%10305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUNX1 rs35525288 0.876398 0 0 1 0 0 intronic intronic intronic RUNX1 RUNX1 ENSG00000159216 Na Na Na Na Na Na Het;+T 686;9|32 Het;+T 470;4|23 Hom;+T 481;4|24 N N - 21 37259272 37259272 C G snp intronic RUNX1 Runx1 ENSG00000159216 runt related transcription factor 1 chr21:36160098-37376965 Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; myeloblastic leukemias; Pancreatic Neoplasms; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Stroke; Bone Mineral Density; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; Phospholipids; diabetes, type 1; schizophrenia; Leukemia, Myelomonocytic, Chronic; Vitamin D; Arthritis, Rheumatoid; asthma; leukemia; lupus erythematosus; chronic myelomonocytic leukemia; Hepatopulmonary Syndrome|Liver Cirrhosis; Bilirubin; rheumatoid arthritis; Colitis, Ulcerative|Crohn Disease|; prostate cancer; Esophageal Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Leukemia, Myeloid, Acute; psoriasis Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. RUNX3 regulates p14-ARF GO:0001503;ossification;IBA|GO:0002062;chondrocyte differentiation;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IDA|GO:0030854;positive regulation of granulocyte differentiation;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS|GO:0071425;hematopoietic stem cell proliferation;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000975;regulatory region DNA binding;IDA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RUNX1 https://hpo.jax.org/app/browse/search?q=RUNX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=151385 http://www.informatics.jax.org/searchtool/Search.do?query=RUNX1&submit=Quick%0D%10305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUNX1 rs442046 0.164337 0 0 1 0 0 intergenic intergenic intronic MIR802(dist=166166),LOC101928269(dist=67705) NONE(dist=NONE),NONE(dist=NONE) ENSG00000159216 Na Na Na Na Na Na Het;C>G 3258;111|135 Ref Hom;C>G 6014;2|211 N N - 21 37259810 37259811 CT C indel ncRNA_exonic PPP1R2P2 rs35400654 0.317292 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR802(dist=166704),LOC101928269(dist=67166) NONE(dist=NONE),NONE(dist=NONE) ENSG00000234008 Na Na Na Na Na Na Het;-T 1829;74|61 Ref Hom;-T 4579;0|124 N N - 21 37260940 37260943 CACA C indel intronic RUNX1 Runx1 ENSG00000159216 runt related transcription factor 1 chr21:36160098-37376965 Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; myeloblastic leukemias; Pancreatic Neoplasms; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Stroke; Bone Mineral Density; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; Phospholipids; diabetes, type 1; schizophrenia; Leukemia, Myelomonocytic, Chronic; Vitamin D; Arthritis, Rheumatoid; asthma; leukemia; lupus erythematosus; chronic myelomonocytic leukemia; Hepatopulmonary Syndrome|Liver Cirrhosis; Bilirubin; rheumatoid arthritis; Colitis, Ulcerative|Crohn Disease|; prostate cancer; Esophageal Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Leukemia, Myeloid, Acute; psoriasis Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. RUNX3 regulates p14-ARF GO:0001503;ossification;IBA|GO:0002062;chondrocyte differentiation;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IDA|GO:0030854;positive regulation of granulocyte differentiation;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0045766;positive regulation of angiogenesis;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS|GO:0071425;hematopoietic stem cell proliferation;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000975;regulatory region DNA binding;IDA|GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RUNX1 https://hpo.jax.org/app/browse/search?q=RUNX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=151385 http://www.informatics.jax.org/searchtool/Search.do?query=RUNX1&submit=Quick%0D%10305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUNX1 rs111831171 0.146765 0 0 1 0 0 intergenic intergenic intronic MIR802(dist=167834),LOC101928269(dist=66034) NONE(dist=NONE),NONE(dist=NONE) ENSG00000159216 Na Na Na Na Na Na Het;-ACA 1398;22|36 Ref Hom;-ACA 3518;0|79 N N - 21 37498994 37498994 A G snp upstream LOC100133286 rs11088339 0.38778 0 0 1 0 0 upstream upstream upstream LOC100133286 LOC100133286 ENSG00000230212 Na Na Na Na Na Na Het;A>G 1190;37|52 Het;A>G 1126;27|45 Hom;A>G 2259;0|83 N N - 21 37513596 37513596 A T snp ncRNA_intronic CBR3-AS1 rs4817781 0.427117 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CBR3-AS1 CBR3-AS1 ENSG00000236830 Na Na Na Na Na Na Het;A>T 143;4|5 Het;A>T 35;2|2 Hom;A>T 224;0|8 N N - 21 37513747 37513747 A C snp ncRNA_exonic CBR3-AS1 rs4817782 0.427117 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CBR3-AS1 CBR3-AS1 ENSG00000236830 Na Na Na Na Na Na Het;A>C 1372;79|62 Het;A>C 1275;66|54 Hom;A>C 4216;0|142 N N - 21 37518706 37518706 G A snp nonsynonymous SNV G730A V244M aliphatic,hydrophobic,neutral hydrophobic,neutral CBR3 Cbr3 ENSG00000159231 carbonyl reductase 3 chr21:37507210-37518864 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] breast cancer ; Breast Neoplasms; Heart Failure|Neoplasms; bladder cancer; chronic obstructive pulmonary disease; lung cancer ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; lung cancer Phase I - Functionalization of compounds GO:0006805;xenobiotic metabolic process;TAS|GO:0042376;phylloquinone catabolic process;IEA|GO:0050890;cognition;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000253;3-keto sterol reductase activity;IEA|GO:0004090;carbonyl reductase (NADPH) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0070402;NADPH binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CBR3 https://www.ncbi.nlm.nih.gov/omim/?term=603608 http://www.informatics.jax.org/searchtool/Search.do?query=CBR3&submit=Quick%0D%10309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBR3 rs1056892 0.427117 0.3987 0.3742 0.46 6 13 exonic exonic exonic CBR3 CBR3 ENSG00000159231 nonsynonymous SNV nonsynonymous SNV unknown CBR3:NM_001236:exon3:c.G730A:p.V244M, CBR3:uc002yve.3:exon3:c.G730A:p.V244M, UNKNOWN Het;G>A 2980;125|134 Het;G>A 2235;108|107 Hom;G>A 6482;0|245 N N - 21 37528500 37528500 C G snp ncRNA_intronic CBR3-AS1 rs62229302 0.427915 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CBR3-AS1 CBR3-AS1 ENSG00000236830 Na Na Na Na Na Na Het;C>G 2530;104|116 Het;C>G 2100;52|94 Hom;C>G 5471;0|207 N N - 21 37583804 37583804 C T snp intronic DOPEY2 Dopey2 ENSG00000142197 dopey family member 2 chr21:37529080-37666572 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0007029;endoplasmic reticulum organization;ISS|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0050890;cognition;IMP GO:0000139;Golgi membrane;ISS|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/DOPEY2 https://www.uniprot.org/uniprot/Q9Y3R5 https://www.ncbi.nlm.nih.gov/omim/?term=604803 http://www.informatics.jax.org/searchtool/Search.do?query=DOPEY2&submit=Quick%0D%8262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOPEY2 rs2239568 0.328275 0.2939 0.3535 1 0 0 intronic intronic intronic DOPEY2 DOPEY2 ENSG00000142197 Na Na Na Na Na Na Het;C>T 283;11|12 Het;C>T 92;11|6 Hom;C>T 620;0|24 N N - 21 37586877 37586877 T C snp intronic DOPEY2 Dopey2 ENSG00000142197 dopey family member 2 chr21:37529080-37666572 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0007029;endoplasmic reticulum organization;ISS|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0050890;cognition;IMP GO:0000139;Golgi membrane;ISS|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/DOPEY2 https://www.uniprot.org/uniprot/Q9Y3R5 https://www.ncbi.nlm.nih.gov/omim/?term=604803 http://www.informatics.jax.org/searchtool/Search.do?query=DOPEY2&submit=Quick%0D%8262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOPEY2 rs2850079 0.785543 0.7629 0.7590 1 0 0 intronic intronic intronic DOPEY2 DOPEY2 ENSG00000142197 Na Na Na Na Na Na Het;T>C 1030;43|40 Het;T>C 713;43|31 Hom;T>C 1619;0|52 N N - 21 37609571 37609571 T C snp synonymous SNV T2634C R878R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DOPEY2 Dopey2 ENSG00000142197 dopey family member 2 chr21:37529080-37666572 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0007029;endoplasmic reticulum organization;ISS|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0050890;cognition;IMP GO:0000139;Golgi membrane;ISS|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/DOPEY2 https://www.uniprot.org/uniprot/Q9Y3R5 https://www.ncbi.nlm.nih.gov/omim/?term=604803 http://www.informatics.jax.org/searchtool/Search.do?query=DOPEY2&submit=Quick%0D%8262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOPEY2 rs2835322 0.439896 0.4742 0.4927 1 0 0 exonic exonic exonic DOPEY2 DOPEY2 ENSG00000142197 synonymous SNV synonymous SNV unknown DOPEY2:NM_005128:exon16:c.T2634C:p.R878R, DOPEY2:uc002yvg.3:exon16:c.T2634C:p.R878R, UNKNOWN Het;T>C 1703;43|62 Het;T>C 818;49|33 Hom;T>C 2489;0|90 N N - 21 37612407 37612407 C G snp intronic DOPEY2 Dopey2 ENSG00000142197 dopey family member 2 chr21:37529080-37666572 Tobacco Use Disorder GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;ISS|GO:0007029;endoplasmic reticulum organization;ISS|GO:0007275;multicellular organism development;NAS|GO:0015031;protein transport;IEA|GO:0050890;cognition;IMP GO:0000139;Golgi membrane;ISS|GO:0005768;endosome;IBA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/DOPEY2 https://www.uniprot.org/uniprot/Q9Y3R5 https://www.ncbi.nlm.nih.gov/omim/?term=604803 http://www.informatics.jax.org/searchtool/Search.do?query=DOPEY2&submit=Quick%0D%8262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOPEY2 rs2245474 0.423123 0 0 1 0 0 intronic intronic intronic DOPEY2 DOPEY2 ENSG00000142197 Na Na Na Na Na Na Het;C>G 147;6|5 Het;C>G 88;1|4 Hom;C>G 133;0|4 N N - 21 38081562 38081562 T G snp synonymous SNV T270G P90P hydrophobic,neutral hydrophobic,neutral SIM2 Sim2 ENSG00000159263 single-minded family bHLH transcription factor 2 chr21:38071433-38122218 This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] Scoliosis; Iron Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0009880;embryonic pattern specification;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIM2 https://www.ncbi.nlm.nih.gov/omim/?term=600892 http://www.informatics.jax.org/searchtool/Search.do?query=SIM2&submit=Quick%0D%10316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIM2 rs2070647 0.775759 0.7910 0.7501 1 0 0 intronic exonic intronic SIM2 SIM2 ENSG00000159263 Na synonymous SNV Na Na SIM2:uc002yvp.3:exon2:c.T270G:p.P90P, Na Het;T>G 739;62|38 Het;T>G 1162;65|55 Hom;T>G 2590;0|93 N N - 21 38081577 38081577 C G snp nonsynonymous SNV C285G S95R polar,hydrophilic,neutral polar,hydrophilic,charged(+) SIM2 Sim2 ENSG00000159263 single-minded family bHLH transcription factor 2 chr21:38071433-38122218 This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] Scoliosis; Iron Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0009880;embryonic pattern specification;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIM2 https://www.ncbi.nlm.nih.gov/omim/?term=600892 http://www.informatics.jax.org/searchtool/Search.do?query=SIM2&submit=Quick%0D%10316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIM2 rs2070648 0.748003 0.7639 0.7473 1 0 0 intronic exonic intronic SIM2 SIM2 ENSG00000159263 Na nonsynonymous SNV Na Na SIM2:uc002yvp.3:exon2:c.C285G:p.S95R, Na Het;C>G 700;58|35 Het;C>G 1100;57|51 Hom;C>G 2131;0|78 N N - 21 38092039 38092039 A C snp intronic SIM2 Sim2 ENSG00000159263 single-minded family bHLH transcription factor 2 chr21:38071433-38122218 This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] Scoliosis; Iron Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0009880;embryonic pattern specification;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIM2 https://www.ncbi.nlm.nih.gov/omim/?term=600892 http://www.informatics.jax.org/searchtool/Search.do?query=SIM2&submit=Quick%0D%10316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIM2 rs2070650 0.547324 0 0 1 0 0 intronic intronic intronic SIM2 SIM2 ENSG00000159263 Na Na Na Na Na Na Het;A>C 169;13|6 Het;A>C 238;8|11 Hom;A>C 336;0|12 N N - 21 39775373 39775373 A G snp intronic ERG Erg ENSG00000157554 ERG, ETS transcription factor chr21:39751949-40033704 This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014] Lupus Vulgaris; Neutrophils; Hemoglobin A, Glycosylated; prostate cancer; Hematocrit; Erythrocyte Count; bone density; Tobacco Use Disorder; Glucose Mice homozygous for an ENU-induced mutation or a knock-out of isoforms 5 - 7 die during organogenesis and exhibit embryonic growth retardation. Mice homozygous for a knock-out of isoforms 1 - 4 are viable and fertile with no overt abnnormalities. Homozygous knock-out mice develop pulmonary venoocclusive disease, with pancytopenia, pulmonary hemorrhage and hypertension, and heart right ventricle hypertrophy. GO:0003197;endocardial cushion development;IEA|GO:0003199;endocardial cushion to mesenchymal transition involved in heart valve formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0016477;cell migration;IEA|GO:0030154;cell differentiation;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:2000504;positive regulation of blood vessel remodeling;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERG https://www.ncbi.nlm.nih.gov/omim/?term=165080 http://www.informatics.jax.org/searchtool/Search.do?query=ERG&submit=Quick%0D%10107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERG rs2836373 0.803115 0 0 1 0 0 intronic intronic intronic ERG ERG ENSG00000157554 Na Na Na Na Na Na Het;A>G 981;23|39 Het;A>G 629;15|25 Hom;A>G 1073;0|36 N N - 21 40072376 40072376 C T snp intergenic ERG Erg ENSG00000157554 ERG, ETS transcription factor chr21:39751949-40033704 This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014] Lupus Vulgaris; Neutrophils; Hemoglobin A, Glycosylated; prostate cancer; Hematocrit; Erythrocyte Count; bone density; Tobacco Use Disorder; Glucose Mice homozygous for an ENU-induced mutation or a knock-out of isoforms 5 - 7 die during organogenesis and exhibit embryonic growth retardation. Mice homozygous for a knock-out of isoforms 1 - 4 are viable and fertile with no overt abnnormalities. Homozygous knock-out mice develop pulmonary venoocclusive disease, with pancytopenia, pulmonary hemorrhage and hypertension, and heart right ventricle hypertrophy. GO:0003197;endocardial cushion development;IEA|GO:0003199;endocardial cushion to mesenchymal transition involved in heart valve formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0016477;cell migration;IEA|GO:0030154;cell differentiation;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:2000504;positive regulation of blood vessel remodeling;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERG https://www.ncbi.nlm.nih.gov/omim/?term=165080 http://www.informatics.jax.org/searchtool/Search.do?query=ERG&submit=Quick%0D%10107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERG rs6517477 0.795727 0 0 1 0 0 intergenic intergenic intergenic ERG(dist=38672),LINC00114(dist=38503) ERG(dist=38672),LINC00114(dist=38503) ENSG00000157554(dist=38672),ENSG00000223806(dist=38569) Na Na Na Na Na Na Het;C>T 59;6|5 Het;C>T 31;5|2 Hom;C>T 159;0|7 N N - 21 40124341 40124341 A T snp ncRNA_intronic LINC00114 rs2836662 0.650559 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic LINC00114 LINC00114 ENSG00000223806(dist=4957),ENSG00000157557(dist=52890) Na Na Na Na Na Na Het;A>T 178;6|7 Het;A>T 104;6|5 Hom;A>T 401;0|11 N N - 21 40346294 40346294 A C snp downstream LINC01700 rs9980681 0.132188 0 0 1 0 0 downstream intergenic downstream LOC101928435 SNORA62(dist=79503),PSMG1(dist=201078) ENSG00000232837 Na Na Na Na Na Na Het;A>C 112;6|4 Het;A>C 119;4|4 Hom;A>C 307;0|11 N N - 21 40346520 40346520 T C snp ncRNA_exonic LOC101928435 rs9981682 0.132388 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928435 SNORA62(dist=79729),PSMG1(dist=200852) ENSG00000232837 Na Na Na Na Na Na Het;T>C 2157;93|86 Het;T>C 2053;80|91 Hom;T>C 5450;0|190 N N - 21 40346966 40346966 T C snp ncRNA_exonic LOC101928435 rs2836798 0.358027 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928435 SNORA62(dist=80175),PSMG1(dist=200406) ENSG00000232837 Na Na Na Na Na Na Het;T>C 2652;102|108 Het;T>C 1846;109|87 Hom;T>C 5306;0|190 N N - 21 40347135 40347135 G A snp ncRNA_exonic LOC101928435 rs9983903 0.126997 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928435 SNORA62(dist=80344),PSMG1(dist=200237) ENSG00000232837 Na Na Na Na Na Na Het;G>A 2502;123|109 Het;G>A 2137;90|96 Hom;G>A 4389;0|151 N N - 21 40349493 40349493 T C snp ncRNA_exonic LOC101928435 rs8129750 0.133187 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928435 SNORA62(dist=82702),PSMG1(dist=197879) ENSG00000232837 Na Na Na Na Na Na Het;T>C 703;25|28 Het;T>C 601;34|25 Hom;T>C 1423;0|50 N N - 21 40349600 40349600 G T snp ncRNA_intronic LOC101928435 rs10854393 0.132388 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928435 SNORA62(dist=82809),PSMG1(dist=197772) ENSG00000232837 Na Na Na Na Na Na Het;G>T 280;37|16 Het;G>T 588;21|25 Hom;G>T 1269;0|44 N N - 21 40349768 40349768 G C snp upstream LOC101928435 rs10854394 0.132588 0 0 1 0 0 upstream intergenic upstream LOC101928435 SNORA62(dist=82977),PSMG1(dist=197604) ENSG00000232837 Na Na Na Na Na Na Het;G>C 141;16|10 Het;G>C 434;10|19 Hom;G>C 698;0|26 N N - 21 40449658 40449658 A G snp intergenic LOC101928435 rs11700569 0.28774 0 0 1 0 0 intergenic intergenic intergenic LOC101928435(dist=99958),PSMG1(dist=97714) SNORA62(dist=182867),PSMG1(dist=97714) ENSG00000237609(dist=48605),ENSG00000228861(dist=49836) Na Na Na Na Na Na Het;A>G 502;10|21 Het;A>G 317;19|15 Hom;A>G 769;0|28 N N - 21 40499810 40499810 C A snp ncRNA_exonic RPL23AP12 rs1810385 0.464457 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928435(dist=150110),PSMG1(dist=47562) SNORA62(dist=233019),PSMG1(dist=47562) ENSG00000228861 Na Na Na Na Na Na Het;C>A 297;9|12 Het;C>A 227;5|10 Hom;C>A 376;0|14 N N - 21 40543320 40543320 C T snp ncRNA_exonic PCBP2P1 rs2836928 0.151558 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928435(dist=193620),PSMG1(dist=4052) SNORA62(dist=276529),PSMG1(dist=4052) ENSG00000235701 Na Na Na Na Na Na Het;C>T 663;7|18 Het;C>T 374;6|10 Hom;C>T 1431;0|34 N N - 21 40543337 40543337 A C snp ncRNA_exonic PCBP2P1 rs414850 0.388379 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928435(dist=193637),PSMG1(dist=4035) SNORA62(dist=276546),PSMG1(dist=4035) ENSG00000235701 Na Na Na Na Na Na Het;A>C 677;9|18 Het;A>C 362;10|10 Hom;A>C 1692;0|43 N N - 21 40543811 40543811 T C snp ncRNA_exonic PCBP2P1 rs2836929 0.213658 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928435(dist=194111),PSMG1(dist=3561) SNORA62(dist=277020),PSMG1(dist=3561) ENSG00000235701 Na Na Na Na Na Na Het;T>C 285;28|14 Het;T>C 327;4|13 Hom;T>C 459;0|15 N N - 21 40549289 40549289 G C snp intronic PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs2142111 0.366214 0 0 1 0 0 intronic intronic intronic PSMG1 PSMG1 ENSG00000183527 Na Na Na Na Na Na Het;G>C 565;12|21 Het;G>C 381;21|16 Hom;G>C 1383;1|47 N N - 21 40549466 40549466 T C snp synonymous SNV A624G P208P hydrophobic,neutral hydrophobic,neutral PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs14194 0.216254 0.3314 0.2730 1 0 0 exonic exonic exonic PSMG1 PSMG1 ENSG00000183527 synonymous SNV synonymous SNV unknown PSMG1:NM_203433:exon5:c.A624G:p.P208P,PSMG1:NM_001261824:exon6:c.A672G:p.P224P,PSMG1:NM_003720:exon6:c.A687G:p.P229P, PSMG1:uc031rvo.1:exon6:c.A672G:p.P224P,PSMG1:uc010gob.4:exon5:c.A426G:p.P142P,PSMG1:uc002yxi.4:exon6:c.A687G:p.P229P,PSMG1:uc002yxj.4:exon5:c.A624G:p.P208P, UNKNOWN Het;T>C 1299;76|60 Het;T>C 1490;89|71 Hom;T>C 4528;1|167 N N - 21 40551943 40551943 A G snp intronic PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs34227163 0.213658 0 0.2703 1 0 0 intronic intronic intronic PSMG1 PSMG1 ENSG00000183527 Na Na Na Na Na Na Het;A>G 422;11|12 Het;A>G 125;5|4 Hom;A>G 962;0|22 N N - 21 40551944 40551944 G GT indel intronic PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs3835285 0.216454 0.3179 0.2707 1 0 0 intronic intronic intronic PSMG1 PSMG1 ENSG00000183527 Na Na Na Na Na Na Het;+T 413;11|11 Het;+T 116;5|4 Hom;+T 953;0|22 N N - 21 40552408 40552408 A G snp intronic PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs7280375 0.213858 0.3297 0.2781 1 0 0 intronic intronic intronic PSMG1 PSMG1 ENSG00000183527 Na Na Na Na Na Na Het;A>G 421;22|17 Het;A>G 191;24|12 Hom;A>G 1180;0|40 N N - 21 40553845 40553845 T C snp intronic PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs6517522 0.335264 0.4467 0.4149 1 0 0 intronic intronic intronic PSMG1 PSMG1 ENSG00000183527 Na Na Na Na Na Na Het;T>C 755;41|31 Het;T>C 963;29|37 Hom;T>C 2081;0|70 N N - 21 40555160 40555160 C G snp UTR3 *14G>C PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs34294410 0.21226 0.3264 0.3083 1 0 0 intronic intronic UTR3 PSMG1 PSMG1 ENSG00000183527(ENST00000411828:c.*14G>C) Na Na Na Na Na Na Het;C>G 565;32|27 Het;C>G 529;17|23 Hom;C>G 783;0|30 N N - 21 40555351 40555351 G C snp UTR5 -40C>G PSMG1 Psmg1 ENSG00000183527 proteasome assembly chaperone 1 chr21:40546695-40555777 inflammatory bowel disease; inflammatory bowel disease Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0043248;proteasome assembly;IDA|GO:0080129;proteasome core complex assembly;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMG1 https://www.ncbi.nlm.nih.gov/omim/?term=605296 http://www.informatics.jax.org/searchtool/Search.do?query=PSMG1&submit=Quick%0D%15005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMG1 rs13052882 0.234225 0.3296 0.3186 1 0 0 UTR5 UTR5 UTR5 PSMG1(NM_003720:c.-40C>G,NM_203433:c.-40C>G,NM_001261824:c.-40C>G) PSMG1(uc002yxi.4:c.-40C>G,uc031rvo.1:c.-40C>G,uc002yxj.4:c.-40C>G,uc010gob.4:c.-3009C>G) ENSG00000183527(ENST00000331573:c.-40C>G,ENST00000380900:c.-40C>G) Na Na Na Na Na Na Het;G>C 492;34|23 Het;G>C 543;33|27 Hom;G>C 1184;0|45 N N - 21 40572072 40572072 G A snp intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs2234543 0.211861 0 0 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;G>A 123;10|5 Ref Hom;G>A 580;0|18 N N - 21 40574191 40574191 C T snp intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs2836938 0.209665 0 0 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;C>T 124;10|5 Het;C>T 337;8|11 Hom;C>T 537;0|17 N N - 21 40582181 40582183 TAG T indel intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs35580733 0.0886581 0 0 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;-AG 65;8|3 Het;-AG 233;8|7 Hom;-AG 219;0|6 N N - 21 40590624 40590624 A C snp ncRNA_intronic BRWD1-IT1 rs35571600 0.212859 0.3128 0.3040 1 0 0 intronic intronic ncRNA_intronic BRWD1 BRWD1 ENSG00000237373 Na Na Na Na Na Na Het;A>C 653;45|26 Het;A>C 870;26|28 Hom;A>C 1865;0|58 N N - 21 40619887 40619887 G A snp intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs2836955 0.150759 0 0 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;G>A 332;6|11 Het;G>A 125;8|6 Hom;G>A 413;0|13 N N - 21 40642386 40642386 A G snp intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs2836968 0.213458 0.3325 0.2948 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;A>G 1457;74|66 Het;A>G 1384;59|59 Hom;A>G 4342;0|153 N N - 21 40652142 40652142 G A snp synonymous SNV C864T Y288Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs2836972 0.215056 0.3331 0.2749 1 0 0 exonic exonic exonic BRWD1 BRWD1 ENSG00000185658 synonymous SNV synonymous SNV unknown BRWD1:NM_033656:exon9:c.C864T:p.Y288Y,BRWD1:NM_018963:exon9:c.C864T:p.Y288Y, BRWD1:uc021wjf.1:exon9:c.C864T:p.Y288Y,BRWD1:uc002yxk.2:exon9:c.C864T:p.Y288Y,BRWD1:uc010goi.1:exon1:c.C24T:p.Y8Y, UNKNOWN Het;G>A 2135;92|97 Het;G>A 2030;99|102 Hom;G>A 4203;1|156 N N - 21 40666066 40666066 T C snp intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs2836977 0.214657 0 0 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;T>C 215;10|7 Het;T>C 45;16|3 Hom;T>C 354;0|9 N N - 21 40685135 40685135 A G snp intronic BRWD1 Brwd1 ENSG00000185658 bromodomain and WD repeat domain containing 1 chr21:40556102-40693485 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] Bipolar Disorder; Tobacco Use Disorder; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. Chromatin modifying enzymes GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007010;cytoskeleton organization;IMP|GO:0008360;regulation of cell shape;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BRWD1 http://www.informatics.jax.org/searchtool/Search.do?query=BRWD1&submit=Quick%0D%15459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRWD1 rs118102968 0.0569089 0.0962 0.1557 1 0 0 intronic intronic intronic BRWD1 BRWD1 ENSG00000185658 Na Na Na Na Na Na Het;A>G 1111;35|48 Het;A>G 779;31|34 Hom;A>G 1602;0|60 N N - 21 40899071 40899071 C A snp ncRNA_exonic AF121897.1 rs485224 0.546526 0 0 1 0 0 intergenic intergenic ncRNA_exonic SH3BGR(dist=11638),B3GALT5-AS1(dist=70004) SH3BGR(dist=11638),B3GALT5(dist=29298) ENSG00000235012 Na Na Na Na Na Na Het;C>A 100;8|6 Het;C>A 78;6|5 Hom;C>A 101;0|4 N N - 21 40969621 40969621 C T snp ncRNA_exonic B3GALT5-AS1 rs661650 0.205072 0 0.2904 1 0 0 ncRNA_exonic UTR3 UTR3 B3GALT5-AS1 C21orf88(uc010gok.4:c.*10G>A) ENSG00000184809(ENST00000380612:c.*10G>A) Na Na Na Na Na Na Het;C>T 1803;70|81 Het;C>T 1818;71|81 Hom;C>T 3098;2|113 N N - 21 41029831 41029831 T C snp ncRNA_intronic AF064860.1 rs2222996 0.683107 0 0 1 0 0 intronic intronic ncRNA_intronic B3GALT5 B3GALT5 ENSG00000225330 Na Na Na Na Na Na Het;T>C 1351;59|59 Het;T>C 1320;57|63 Hom;T>C 2993;0|113 N N - 21 41032740 41032740 T C snp nonsynonymous SNV T254C M85T hydrophobic,neutral polar,hydrophilic,neutral B3GALT5 B3galt5 ENSG00000183778 beta-1,3-galactosyltransferase 5 chr21:40928369-41045064 This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013] Bipolar Disorder Homozygous mice for a targeted mutation appear normal. GO:0006486;protein glycosylation;TAS GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GALT5 https://www.ncbi.nlm.nih.gov/omim/?term=604066 http://www.informatics.jax.org/searchtool/Search.do?query=B3GALT5&submit=Quick%0D%15073ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GALT5 rs3746887 0.653355 0.6851 0.7577 0.08 1 13 exonic exonic exonic B3GALT5 B3GALT5 ENSG00000183778 nonsynonymous SNV nonsynonymous SNV unknown B3GALT5:NM_033170:exon3:c.T254C:p.M85T,B3GALT5:NM_006057:exon3:c.T254C:p.M85T,B3GALT5:NM_033172:exon3:c.T266C:p.M89T,B3GALT5:NM_001278650:exon3:c.T254C:p.M85T,B3GALT5:NM_033171:exon4:c.T254C:p.M85T, B3GALT5:uc002yyk.1:exon3:c.T254C:p.M85T,B3GALT5:uc021wjj.1:exon1:c.T254C:p.M85T,B3GALT5:uc002yyj.1:exon3:c.T254C:p.M85T,B3GALT5:uc002yyi.1:exon4:c.T254C:p.M85T,B3GALT5:uc002yyb.1:exon5:c.T254C:p.M85T,B3GALT5:uc002yye.2:exon3:c.T254C:p.M85T,B3GALT5:uc002yyl.1:exon3:c.T254C:p.M85T, UNKNOWN Het;T>C 1794;91|79 Het;T>C 1223;88|57 Hom;T>C 3753;2|140 N N - 21 41032804 41032804 G A snp synonymous SNV G318A T106T polar,hydrophilic,neutral polar,hydrophilic,neutral B3GALT5 B3galt5 ENSG00000183778 beta-1,3-galactosyltransferase 5 chr21:40928369-41045064 This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013] Bipolar Disorder Homozygous mice for a targeted mutation appear normal. GO:0006486;protein glycosylation;TAS GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008378;galactosyltransferase activity;IEA|GO:0008499;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GALT5 https://www.ncbi.nlm.nih.gov/omim/?term=604066 http://www.informatics.jax.org/searchtool/Search.do?query=B3GALT5&submit=Quick%0D%15073ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GALT5 rs734413 0.629393 0.6625 0.7511 1 0 0 exonic exonic exonic B3GALT5 B3GALT5 ENSG00000183778 synonymous SNV synonymous SNV unknown B3GALT5:NM_033170:exon3:c.G318A:p.T106T,B3GALT5:NM_006057:exon3:c.G318A:p.T106T,B3GALT5:NM_033172:exon3:c.G330A:p.T110T,B3GALT5:NM_001278650:exon3:c.G318A:p.T106T,B3GALT5:NM_033171:exon4:c.G318A:p.T106T, B3GALT5:uc002yyk.1:exon3:c.G318A:p.T106T,B3GALT5:uc021wjj.1:exon1:c.G318A:p.T106T,B3GALT5:uc002yyj.1:exon3:c.G318A:p.T106T,B3GALT5:uc002yyi.1:exon4:c.G318A:p.T106T,B3GALT5:uc002yyb.1:exon5:c.G318A:p.T106T,B3GALT5:uc002yye.2:exon3:c.G318A:p.T106T,B3GALT5:uc002yyl.1:exon3:c.G318A:p.T106T, UNKNOWN Het;G>A 2045;91|87 Het;G>A 1664;91|77 Hom;G>A 3982;0|140 N N - 21 41165462 41165462 C A snp nonsynonymous SNV C1050A D350E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) IGSF5 Igsf5 ENSG00000183067 immunoglobulin superfamily member 5 chr21:41117334-41174023 Parkinson Disease; Stroke; Lipoproteins, LDL; Tobacco Use Disorder; Coronary Disease Homozygous mutation of this gene results in no obvious abnormalities. GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGSF5 https://www.ncbi.nlm.nih.gov/omim/?term=610638 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF5&submit=Quick%0D%14915ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF5 rs2837225 0.450479 0.3613 0.3645 0.08 1 13 exonic exonic exonic IGSF5 IGSF5 ENSG00000183067 nonsynonymous SNV nonsynonymous SNV unknown IGSF5:NM_001080444:exon8:c.C1050A:p.D350E, IGSF5:uc002yyo.3:exon8:c.C1050A:p.D350E, UNKNOWN Het;C>A 1015;39|45 Het;C>A 404;45|22 Hom;C>A 1993;0|74 N N - 21 41165677 41165677 G A snp intronic IGSF5 Igsf5 ENSG00000183067 immunoglobulin superfamily member 5 chr21:41117334-41174023 Parkinson Disease; Stroke; Lipoproteins, LDL; Tobacco Use Disorder; Coronary Disease Homozygous mutation of this gene results in no obvious abnormalities. GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGSF5 https://www.ncbi.nlm.nih.gov/omim/?term=610638 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF5&submit=Quick%0D%14915ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF5 rs463903 0.701677 0 0 1 0 0 intronic intronic intronic IGSF5 IGSF5 ENSG00000183067 Na Na Na Na Na Na Het;G>A 125;3|5 Ref Hom;G>A 117;0|4 N N - 21 41514688 41514689 TA T indel intronic DSCAM Dscam ENSG00000171587 DS cell adhesion molecule chr21:41382926-42219065 This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Echocardiography; bipolar disorder; Carcinoma, Non-Small-Cell Lung; Tobacco Use Disorder; Calcium; Arthritis, Rheumatoid; Neutrophils; Celiac Disease|; Sleep; Follicle Stimulating Hormone; Respiratory Function Tests; Hemoglobin A, Glycosylated Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. DSCAM interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;ISS|GO:0042327;positive regulation of phosphorylation;IDA|GO:0048813;dendrite morphogenesis;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IDA|GO:0060060;post-embryonic retina morphogenesis in camera-type eye;IEA|GO:0060219;camera-type eye photoreceptor cell differentiation;ISS|GO:0070593;dendrite self-avoidance;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSCAM https://www.ncbi.nlm.nih.gov/omim/?term=602523 http://www.informatics.jax.org/searchtool/Search.do?query=DSCAM&submit=Quick%0D%12968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAM rs35155500 0.736821 0 0 1 0 0 intronic intronic intronic DSCAM DSCAM ENSG00000171587 Na Na Na Na Na Na Het;-A 2221;62|71 Het;-A 1476;67|51 Hom;-A 4337;0|118 N N - 21 41516356 41516356 G A snp intronic DSCAM Dscam ENSG00000171587 DS cell adhesion molecule chr21:41382926-42219065 This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Echocardiography; bipolar disorder; Carcinoma, Non-Small-Cell Lung; Tobacco Use Disorder; Calcium; Arthritis, Rheumatoid; Neutrophils; Celiac Disease|; Sleep; Follicle Stimulating Hormone; Respiratory Function Tests; Hemoglobin A, Glycosylated Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. DSCAM interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;ISS|GO:0042327;positive regulation of phosphorylation;IDA|GO:0048813;dendrite morphogenesis;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IDA|GO:0060060;post-embryonic retina morphogenesis in camera-type eye;IEA|GO:0060219;camera-type eye photoreceptor cell differentiation;ISS|GO:0070593;dendrite self-avoidance;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSCAM https://www.ncbi.nlm.nih.gov/omim/?term=602523 http://www.informatics.jax.org/searchtool/Search.do?query=DSCAM&submit=Quick%0D%12968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAM rs78292319 0.0974441 0 0 1 0 0 intronic intronic intronic DSCAM DSCAM ENSG00000171587 Na Na Na Na Na Na Het;G>A 648;17|23 Het;G>A 360;17|17 Hom;G>A 1407;0|44 N N - 21 42033859 42033859 C T snp intronic DSCAM Dscam ENSG00000171587 DS cell adhesion molecule chr21:41382926-42219065 This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Echocardiography; bipolar disorder; Carcinoma, Non-Small-Cell Lung; Tobacco Use Disorder; Calcium; Arthritis, Rheumatoid; Neutrophils; Celiac Disease|; Sleep; Follicle Stimulating Hormone; Respiratory Function Tests; Hemoglobin A, Glycosylated Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. DSCAM interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007162;negative regulation of cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;ISS|GO:0042327;positive regulation of phosphorylation;IDA|GO:0048813;dendrite morphogenesis;IEA|GO:0048842;positive regulation of axon extension involved in axon guidance;IDA|GO:0060060;post-embryonic retina morphogenesis in camera-type eye;IEA|GO:0060219;camera-type eye photoreceptor cell differentiation;ISS|GO:0070593;dendrite self-avoidance;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSCAM https://www.ncbi.nlm.nih.gov/omim/?term=602523 http://www.informatics.jax.org/searchtool/Search.do?query=DSCAM&submit=Quick%0D%12968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAM rs8129262 0.76258 0 0 1 0 0 intronic intronic intronic DSCAM DSCAM ENSG00000171587 Na Na Na Na Na Na Het;C>T 104;5|4 Ref Hom;C>T 137;0|5 N N - 21 42845383 42845383 A G snp synonymous SNV T768C I256I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMPRSS2 Tmprss2 ENSG00000184012 transmembrane protease, serine 2 chr21:42836478-42903043 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Body Height; prostate cancer; Waist Circumference; Lipids; Lipoproteins, HDL Mice homozygous for a disruption in this gene appear normal. GO:0006508;proteolysis;IDA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016540;protein autoprocessing;IMP|GO:0046598;positive regulation of viral entry into host cell;IDA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS2 https://www.ncbi.nlm.nih.gov/omim/?term=602060 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS2&submit=Quick%0D%15121ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS2 rs17854725 0.366214 0.4932 0.4967 1 0 0 exonic exonic exonic TMPRSS2 TMPRSS2 ENSG00000184012 synonymous SNV synonymous SNV unknown TMPRSS2:NM_005656:exon9:c.T768C:p.I256I,TMPRSS2:NM_001135099:exon9:c.T879C:p.I293I, TMPRSS2:uc002yzj.3:exon9:c.T768C:p.I256I,TMPRSS2:uc010gor.3:exon9:c.T879C:p.I293I,TMPRSS2:uc010gos.1:exon10:c.T768C:p.I256I, UNKNOWN Het;A>G 1336;58|59 Het;A>G 859;43|38 Hom;A>G 2516;0|73 N N - 21 43147252 43147252 G A snp intergenic LINC00112 rs11203153 0.421326 0 0 1 0 0 intergenic intergenic intergenic LINC00112(dist=9510),RIPK4(dist=12277) LINC00112(dist=9510),RIPK4(dist=12277) ENSG00000232401(dist=9512),ENSG00000183421(dist=12277) Na Na Na Na Na Na Het;G>A 84;4|5 Ref Hom;G>A 71;0|4 N N - 21 43239972 43239972 A G snp synonymous SNV T2397C N799N polar,hydrophilic,neutral polar,hydrophilic,neutral PRDM15 Prdm15 ENSG00000141956 PR/SET domain 15 chr21:43218385-43299591 tanning GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM15 https://www.uniprot.org/uniprot/P57071 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM15&submit=Quick%0D%8234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM15 rs28477638 0.842851 0.9041 0.8741 1 0 0 exonic exonic exonic PRDM15 PRDM15 ENSG00000141956 synonymous SNV synonymous SNV unknown PRDM15:NM_001282934:exon19:c.T2397C:p.N799N,PRDM15:NM_022115:exon25:c.T3324C:p.N1108N,PRDM15:NM_001040424:exon18:c.T2337C:p.N779N, PRDM15:uc002yzp.3:exon19:c.T2397C:p.N799N,PRDM15:uc002yzr.1:exon19:c.T2397C:p.N799N,PRDM15:uc002yzo.3:exon18:c.T2337C:p.N779N,PRDM15:uc002yzq.1:exon25:c.T3324C:p.N1108N, UNKNOWN Het;A>G 1249;61|58 Het;A>G 1535;63|66 Hom;A>G 4151;0|156 N N - 21 43242091 43242091 A G snp intronic PRDM15 Prdm15 ENSG00000141956 PR/SET domain 15 chr21:43218385-43299591 tanning GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM15 https://www.uniprot.org/uniprot/P57071 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM15&submit=Quick%0D%8234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM15 rs28648706 0.842851 0 0 1 0 0 intronic intronic intronic PRDM15 PRDM15 ENSG00000141956 Na Na Na Na Na Na Het;A>G 155;3|5 Het;A>G 240;3|7 Hom;A>G 393;0|10 N N - 21 43243585 43243585 A G snp intronic PRDM15 Prdm15 ENSG00000141956 PR/SET domain 15 chr21:43218385-43299591 tanning GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM15 https://www.uniprot.org/uniprot/P57071 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM15&submit=Quick%0D%8234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM15 rs28545527 0.621805 0 0.7202 1 0 0 intronic intronic intronic PRDM15 PRDM15 ENSG00000141956 Na Na Na Na Na Na Het;A>G 280;5|10 Het;A>G 132;13|6 Hom;A>G 473;0|17 N N - 21 43258000 43258000 T C snp intronic PRDM15 Prdm15 ENSG00000141956 PR/SET domain 15 chr21:43218385-43299591 tanning GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016604;nuclear body;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM15 https://www.uniprot.org/uniprot/P57071 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM15&submit=Quick%0D%8234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM15 rs8127003 0.860423 0.9243 0.8884 1 0 0 intronic intronic intronic PRDM15 PRDM15 ENSG00000141956 Na Na Na Na Na Na Het;T>C 493;26|20 Het;T>C 345;27|17 Hom;T>C 1043;0|36 N N - 21 43309191 43309191 A G snp UTR3 *42T>C C2CD2 C2cd2 ENSG00000157617 C2 calcium dependent domain containing 2 chr21:43305221-43373999 GO:0005634;nucleus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C2CD2 http://www.informatics.jax.org/searchtool/Search.do?query=C2CD2&submit=Quick%0D%10115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2CD2 rs2839403 0.410144 0.5091 0.5453 1 0 0 UTR3 UTR3 UTR3 C2CD2(NM_199050:c.*42T>C,NM_015500:c.*42T>C) C2CD2(uc002yzs.3:c.*42T>C,uc002yzt.3:c.*42T>C,uc002yzu.3:c.*42T>C,uc002yzv.3:c.*42T>C,uc002yzw.3:c.*42T>C) ENSG00000157617(ENST00000380486:c.*42T>C,ENST00000329623:c.*42T>C,ENST00000449165:c.*42T>C) Na Na Na Na Na Na Het;A>G 92;9|5 Het;A>G 251;2|10 Hom;A>G 532;0|18 N N - 21 43496017 43496017 C G snp UTR3 *404G>C AX748362 rs220285 0.44988 0 0 1 0 0 intronic UTR3 intronic UMODL1 AX748362(uc002zah.2:c.*404G>C) ENSG00000177398 Na Na Na Na Na Na Het;C>G 170;11|6 Het;C>G 143;7|5 Hom;C>G 222;0|6 N N - 21 43496381 43496381 G T snp UTR3 *40C>A AX748362 rs220286 0.420727 0.5925 0.5603 1 0 0 intronic UTR3 intronic UMODL1 AX748362(uc002zah.2:c.*40C>A) ENSG00000177398 Na Na Na Na Na Na Het;G>T 879;46|34 Het;G>T 687;36|29 Hom;G>T 1723;0|60 N N - 21 44107989 44107989 A G snp intronic PDE9A Pde9a ENSG00000160191 phosphodiesterase 9A chr21:44073746-44195619 The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Asthma; depressive disorder, major; Tobacco Use Disorder; depression; Eosinophils Mice homozygous for a null allele exhibit suppressed pressure-overload-induced cardiac pathobiology. cGMP effects GO:0007165;signal transduction;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;ISS|GO:0019934;cGMP-mediated signaling;IEA|GO:0046068;cGMP metabolic process;IDA|GO:0046069;cGMP catabolic process;IDA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042383;sarcolemma;IDA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PDE9A https://www.ncbi.nlm.nih.gov/omim/?term=602973 http://www.informatics.jax.org/searchtool/Search.do?query=PDE9A&submit=Quick%0D%10417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE9A rs2839574 0.806709 0.7184 0.6867 1 0 0 intronic intronic intronic PDE9A PDE9A ENSG00000160191 Na Na Na Na Na Na Het;A>G 826;38|37 Het;A>G 995;35|46 Hom;A>G 2341;0|85 N N - 21 44296933 44296934 AT A indel intronic WDR4 Wdr4 ENSG00000160193 WD repeat domain 4 chr21:44263204-44299678 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] Hypertension Mice homozygous for a null allele display lethality during organogenesis with increased apoptosis and DNA damage. tRNA modification in the nucleus and cytosol GO:0006400;tRNA modification;IDA|GO:0008033;tRNA processing;IEA|GO:0036265;RNA (guanine-N7)-methylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0043527;tRNA methyltransferase complex;IBA GO:0005515;protein binding;IPI|GO:0008176;tRNA (guanine-N7-)-methyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR4 https://hpo.jax.org/app/browse/search?q=WDR4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605924 http://www.informatics.jax.org/searchtool/Search.do?query=WDR4&submit=Quick%0D%10418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR4 rs71332377 0.10603 0 0 1 0 0 intronic intronic intronic WDR4 WDR4 ENSG00000160193 Na Na Na Na Na Na Het;-T 159;8|10 Het;-T 162;6|10 Hom;-T 782;0|21 N N - 21 44296935 44296935 T A snp intronic WDR4 Wdr4 ENSG00000160193 WD repeat domain 4 chr21:44263204-44299678 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] Hypertension Mice homozygous for a null allele display lethality during organogenesis with increased apoptosis and DNA damage. tRNA modification in the nucleus and cytosol GO:0006400;tRNA modification;IDA|GO:0008033;tRNA processing;IEA|GO:0036265;RNA (guanine-N7)-methylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0043527;tRNA methyltransferase complex;IBA GO:0005515;protein binding;IPI|GO:0008176;tRNA (guanine-N7-)-methyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR4 https://hpo.jax.org/app/browse/search?q=WDR4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605924 http://www.informatics.jax.org/searchtool/Search.do?query=WDR4&submit=Quick%0D%10418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR4 rs116944707 0.0958466 0 0 1 0 0 intronic intronic intronic WDR4 WDR4 ENSG00000160193 Na Na Na Na Na Na Het;T>A 168;8|10 Het;T>A 171;6|10 Hom;T>A 791;0|21 N N - 21 44445185 44445185 C T snp intronic PKNOX1 Pknox1 ENSG00000160199 PBX/knotted 1 homeobox 1 chr21:44394620-44453691 Cognitive performance ; normal variation; Cholesterol; Neurobehavioral Manifestations; Biochemical measures Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001525;angiogenesis;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0043010;camera-type eye development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKNOX1 https://www.ncbi.nlm.nih.gov/omim/?term=602100 http://www.informatics.jax.org/searchtool/Search.do?query=PKNOX1&submit=Quick%0D%10420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKNOX1 rs234719 0.172524 0 0 1 0 0 intronic intronic intronic PKNOX1 PKNOX1 ENSG00000160199 Na Na Na Na Na Na Het;C>T 125;8|5 Het;C>T 73;2|3 Hom;C>T 313;0|9 N N - 21 44448763 44448763 G C snp intronic PKNOX1 Pknox1 ENSG00000160199 PBX/knotted 1 homeobox 1 chr21:44394620-44453691 Cognitive performance ; normal variation; Cholesterol; Neurobehavioral Manifestations; Biochemical measures Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001525;angiogenesis;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0043010;camera-type eye development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKNOX1 https://www.ncbi.nlm.nih.gov/omim/?term=602100 http://www.informatics.jax.org/searchtool/Search.do?query=PKNOX1&submit=Quick%0D%10420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKNOX1 rs170916 0.238618 0.3438 0.3460 1 0 0 intronic intronic intronic PKNOX1 PKNOX1 ENSG00000160199 Na Na Na Na Na Na Het;G>C 164;3|6 Het;G>C 112;10|7 Hom;G>C 469;0|16 N N - 21 44448775 44448775 G A snp intronic PKNOX1 Pknox1 ENSG00000160199 PBX/knotted 1 homeobox 1 chr21:44394620-44453691 Cognitive performance ; normal variation; Cholesterol; Neurobehavioral Manifestations; Biochemical measures Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001525;angiogenesis;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0043010;camera-type eye development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKNOX1 https://www.ncbi.nlm.nih.gov/omim/?term=602100 http://www.informatics.jax.org/searchtool/Search.do?query=PKNOX1&submit=Quick%0D%10420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKNOX1 rs234728 0.238618 0.3441 0.3468 1 0 0 intronic intronic intronic PKNOX1 PKNOX1 ENSG00000160199 Na Na Na Na Na Na Het;G>A 277;5|9 Het;G>A 103;12|7 Hom;G>A 461;0|17 N N - 21 44459432 44459432 G A snp intergenic PKNOX1 Pknox1 ENSG00000160199 PBX/knotted 1 homeobox 1 chr21:44394620-44453691 Cognitive performance ; normal variation; Cholesterol; Neurobehavioral Manifestations; Biochemical measures Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001525;angiogenesis;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0043010;camera-type eye development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKNOX1 https://www.ncbi.nlm.nih.gov/omim/?term=602100 http://www.informatics.jax.org/searchtool/Search.do?query=PKNOX1&submit=Quick%0D%10420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKNOX1 rs439876 0.17512 0 0 1 0 0 intergenic intergenic intergenic PKNOX1(dist=5391),CBS(dist=13869) PKNOX1(dist=5744),CBS(dist=13869) ENSG00000160199(dist=5741),ENSG00000160200(dist=13869) Na Na Na Na Na Na Het;G>A 93;1|5 Ref Hom;G>A 535;0|21 N N - 21 44488033 44488033 T C snp UTR5 -145A>G CBS Cbs ENSG00000160200 cystathionine-beta-synthase chr21:44473301-44497053 The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016] diabetes, type 2; Cerebral Palsy|; myocardial infarction; brain infarction; Migraine Disorders; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; Brain Neoplasms|Meningioma; breast cancer estrogen progesterone; Congenital Abnormalities; Edema|Malnutrition; heart anomalies, congenital; hyperhomocystinemia; Premature Birth; chronic obstructive pulmonary disease; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; Coronary Stenosis|Hyperhomocysteinemia; Exfoliation Syndrome|Glaucoma; neural tube defects; Spinal Dysraphism; homocysteine metabolism, cognition, and white matter lesions; Coronary Artery Disease; Carcinoma|Carcinoma, Squamous Cell|Gastrointestinal Neoplasms; Hypertension; Tobacco Use Disorder; atherosclerosis; Alzheimer's Disease; Adenocarcinoma|Stomach Neoplasms; obesity; restenosis; plasma homocysteine; mental retardation; hyperhomocystinemia; cystathionine beta-synthase deficiency; lung cancer ; Aortic Aneurysm, Abdominal|; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; Down syndrome; orofacial clefts; Apoplexy|Brain Ischemia|Carotid Artery, Internal, Dissection|Hyperhomocysteinemia|Stroke|Vertebral Artery Dissection; stroke; cerebrovascular disease; myocardial infarct; hyperhomocysteinemia; lymphoma, non-Hodgkin; Homocystinuria; Chronic renal failure|Kidney Failure, Chronic; Hyperhomocysteinemia; cerebrovascular disease; coronary artery disease, occlusive; cleft lip with cleft palate; cleft lip without cleft palate; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; Neural Tube Defects; thrombosis, deep vein; mild homocystinuria; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; schizophrenia; cerebrovascular disease, ischemic; Cerebral Palsy; Cerebrovascular Disorders; Lymphoma, Non-Hodgkin; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia; reduced CBS activity and elevated post-load homocysteine levels; cognitive trait; Inflammation|Premature Birth; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; lung cancer; breast cancer; colorectal cancer; Carcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; Cleft Lip|Cleft Palate; Colorectal Neoplasms; Alzheimer's disease; Apoplexy|Brain Ischemia|Stroke; plasma levels of homocysteine; null; Aging/ Telomere Length; serum folate and serum total homocysteine; atherosclerosis, coronary; Cardiovascular Diseases; longevity; cerebral venous thrombosis; homocystinuria; Heart Defects, Congenital|Spinal Dysraphism; Infection|Inflammation|Premature Birth; Alzheimer's disease ; homocysteine; normal variation; prostate cancer; intima-media thickness; lung cancer; Parkinson's disease ; colorectal cancer; methotrexate toxicity; Mental Retardation; Type 2 Diabetes| edema | rosiglitazone; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; homocysteine, folate and vitamin B12 levels; Hepatopulmonary Syndrome|Liver Cirrhosis; reduced sperm counts; Down Syndrome|; Coronary Disease|Coronary heart disease; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Chronic progressive chorea|Huntington Disease; Congenital Heart Defects|Heart Defects, Congenital; Down Syndrome; breast cancer; 1-carbon metabolism; cervical artery dissection, spontaneous; esophageal adenocarcinoma; bladder cancer; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; coronary artery disease; Brain Infarction|Hyperhomocysteinemia; Venous Thrombosis; Coronary Artery Disease|Lupus Erythematosus, Systemic; Intracranial Aneurysm; Metabolism; Homocysteine Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, butsurvive and breed. Metabolism of ingested SeMet, Sec, MeSec into H2Se GO:0006535;cysteine biosynthetic process from serine;IEA|GO:0006563;L-serine metabolic process;IDA|GO:0006565;L-serine catabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0019343;cysteine biosynthetic process via cystathionine;IEA|GO:0019344;cysteine biosynthetic process;IDA|GO:0019346;transsulfuration;TAS|GO:0019448;L-cysteine catabolic process;IDA|GO:0042262;DNA protection;IMP|GO:0043418;homocysteine catabolic process;IDA|GO:0050667;homocysteine metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070814;hydrogen sulfide biosynthetic process;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0004122;cystathionine beta-synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0019825;oxygen binding;IDA|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0050421;nitrite reductase (NO-forming) activity;IDA|GO:0070025;carbon monoxide binding;IDA|GO:0070026;nitric oxide binding;IDA|GO:0072341;modified amino acid binding;IDA|GO:1904047;S-adenosyl-L-methionine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CBS https://hpo.jax.org/app/browse/search?q=CBS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613381 http://www.informatics.jax.org/searchtool/Search.do?query=CBS&submit=Quick%0D%10421ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBS rs234714 0.742412 0 0 1 0 0 intronic UTR5 intronic CBS CBS(uc002zcs.1:c.-145A>G) ENSG00000160200 Na Na Na Na Na Na Het;T>C 158;14|6 Het;T>C 154;5|7 Hom;T>C 750;0|22 N N - 21 44513500 44513500 C T snp UTR3 *1077G>A U2AF1 U2af1 ENSG00000160201 U2 small nuclear RNA auxiliary factor 1 chr21:44513066-44527697 This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Birth Weight|Hyperbilirubinemia, Neonatal; Hypertension mRNA 3'-end processing GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;TAS|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0008380;RNA splicing;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IDA|GO:0015030;Cajal body;TAS|GO:0016607;nuclear speck;IEA|GO:0071013;catalytic step 2 spliceosome;IDA|GO:0089701;U2AF;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0030628;pre-mRNA 3'-splice site binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/U2AF1 https://www.ncbi.nlm.nih.gov/omim/?term=191317 http://www.informatics.jax.org/searchtool/Search.do?query=U2AF1&submit=Quick%0D%10422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=U2AF1 rs3788054 0.107628 0 0 1 0 0 intronic UTR3 intronic U2AF1 U2AF1(uc010gpi.1:c.*1077G>A) ENSG00000160201 Na Na Na Na Na Na Het;C>T 46;2|3 Ref Hom;C>T 167;0|6 N N - 21 44742688 44742690 AGT A indel ncRNA_exonic LINC00322 rs146404527 0.215256 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC00322 CRYAA(dist=149775),SIK1(dist=91708) ENSG00000237864 Na Na Na Na Na Na Het;-GT 3509;72|91 Het;-GT 2390;79|65 Hom;-GT 6515;0|148 N N - 21 44742746 44742746 C A snp ncRNA_intronic LINC00322 rs566038 0.870407 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC00322 CRYAA(dist=149833),SIK1(dist=91652) ENSG00000237864 Na Na Na Na Na Na Het;C>A 1459;62|66 Het;C>A 1123;41|47 Hom;C>A 2818;0|102 N N - 21 45012353 45012353 C T snp intronic HSF2BP Hsf2bp ENSG00000160207 heat shock transcription factor 2 binding protein chr21:44949072-45079374 HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP https://www.ncbi.nlm.nih.gov/omim/?term=604554 http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP rs1454650 0.717452 0 0 1 0 0 intronic intronic intronic HSF2BP HSF2BP ENSG00000160207 Na Na Na Na Na Na Het;C>T 394;7|15 Het;C>T 209;18|9 Hom;C>T 698;0|23 N N - 21 45064296 45064296 C A snp intronic HSF2BP Hsf2bp ENSG00000160207 heat shock transcription factor 2 binding protein chr21:44949072-45079374 HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP https://www.ncbi.nlm.nih.gov/omim/?term=604554 http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP rs2246602 0.667532 0.5971 0.6497 1 0 0 intronic intronic intronic HSF2BP HSF2BP ENSG00000160207 Na Na Na Na Na Na Het;C>A 1302;57|58 Het;C>A 935;33|44 Hom;C>A 2647;0|98 N N - 21 45076373 45076373 A G snp intronic HSF2BP Hsf2bp ENSG00000160207 heat shock transcription factor 2 binding protein chr21:44949072-45079374 HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP https://www.ncbi.nlm.nih.gov/omim/?term=604554 http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP rs2838340 0.516773 0 0 1 0 0 intronic intronic intronic HSF2BP HSF2BP ENSG00000160207 Na Na Na Na Na Na Het;A>G 394;14|14 Het;A>G 516;15|18 Hom;A>G 362;0|11 N N - 21 45076443 45076443 A G snp intronic HSF2BP Hsf2bp ENSG00000160207 heat shock transcription factor 2 binding protein chr21:44949072-45079374 HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP https://www.ncbi.nlm.nih.gov/omim/?term=604554 http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP rs2838341 0.636581 0.5531 0.6233 1 0 0 intronic intronic intronic HSF2BP HSF2BP ENSG00000160207 Na Na Na Na Na Na Het;A>G 882;46|37 Het;A>G 976;54|41 Hom;A>G 2420;0|87 N N - 21 45077865 45077865 G A snp intronic HSF2BP Hsf2bp ENSG00000160207 heat shock transcription factor 2 binding protein chr21:44949072-45079374 HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP https://www.ncbi.nlm.nih.gov/omim/?term=604554 http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP rs2838342 0.623602 0.5361 0 1 0 0 intronic intronic intronic HSF2BP HSF2BP ENSG00000160207 Na Na Na Na Na Na Het;G>A 137;4|8 Het;G>A 201;1|8 Hom;G>A 336;0|13 N N - 21 45078035 45078035 C T snp UTR5 -58G>A HSF2BP Hsf2bp ENSG00000160207 heat shock transcription factor 2 binding protein chr21:44949072-45079374 HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007283;spermatogenesis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HSF2BP https://www.ncbi.nlm.nih.gov/omim/?term=604554 http://www.informatics.jax.org/searchtool/Search.do?query=HSF2BP&submit=Quick%0D%10424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF2BP rs2838343 0.634585 0 0 1 0 0 UTR5 UTR5 UTR5 HSF2BP(NM_007031:c.-58G>A) HSF2BP(uc011aey.2:c.-13800G>A,uc002zdi.3:c.-58G>A) ENSG00000160207(ENST00000291560:c.-58G>A,ENST00000443485:c.-58G>A) Na Na Na Na Na Na Het;C>T 114;6|6 Het;C>T 149;5|7 Hom;C>T 324;0|12 N N - 21 45089877 45089877 G A snp intronic RRP1B Rrp1b ENSG00000160208 ribosomal RNA processing 1B chr21:45079429-45115958 Tobacco Use Disorder; breast cancer; breast cancer GO:0006364;rRNA processing;IBA|GO:0010923;negative regulation of phosphatase activity;IDA GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0030688;preribosome, small subunit precursor;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RRP1B https://www.ncbi.nlm.nih.gov/omim/?term=610654 http://www.informatics.jax.org/searchtool/Search.do?query=RRP1B&submit=Quick%0D%10425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP1B rs2838344 0.640775 0.5457 0.6444 1 0 0 intronic intronic intronic RRP1B RRP1B ENSG00000160208 Na Na Na Na Na Na Het;G>A 386;18|16 Het;G>A 521;12|23 Hom;G>A 646;2|24 N N - 21 45092095 45092095 G C snp intronic RRP1B Rrp1b ENSG00000160208 ribosomal RNA processing 1B chr21:45079429-45115958 Tobacco Use Disorder; breast cancer; breast cancer GO:0006364;rRNA processing;IBA|GO:0010923;negative regulation of phosphatase activity;IDA GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0030688;preribosome, small subunit precursor;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RRP1B https://www.ncbi.nlm.nih.gov/omim/?term=610654 http://www.informatics.jax.org/searchtool/Search.do?query=RRP1B&submit=Quick%0D%10425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP1B rs11909064 0.784744 0 0 1 0 0 intronic intronic intronic RRP1B RRP1B ENSG00000160208 Na Na Na Na Na Na Het;G>C 306;5|11 Het;G>C 125;14|6 Hom;G>C 592;0|20 N N - 21 45092257 45092257 T A snp intronic RRP1B Rrp1b ENSG00000160208 ribosomal RNA processing 1B chr21:45079429-45115958 Tobacco Use Disorder; breast cancer; breast cancer GO:0006364;rRNA processing;IBA|GO:0010923;negative regulation of phosphatase activity;IDA GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0030688;preribosome, small subunit precursor;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RRP1B https://www.ncbi.nlm.nih.gov/omim/?term=610654 http://www.informatics.jax.org/searchtool/Search.do?query=RRP1B&submit=Quick%0D%10425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP1B rs2251253 0.641573 0.5460 0.6429 1 0 0 intronic intronic intronic RRP1B RRP1B ENSG00000160208 Na Na Na Na Na Na Het;T>A 731;32|34 Het;T>A 937;23|42 Hom;T>A 1425;0|55 N N - 21 45096206 45096206 G A snp synonymous SNV G603A A201A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RRP1B Rrp1b ENSG00000160208 ribosomal RNA processing 1B chr21:45079429-45115958 Tobacco Use Disorder; breast cancer; breast cancer GO:0006364;rRNA processing;IBA|GO:0010923;negative regulation of phosphatase activity;IDA GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0030688;preribosome, small subunit precursor;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RRP1B https://www.ncbi.nlm.nih.gov/omim/?term=610654 http://www.informatics.jax.org/searchtool/Search.do?query=RRP1B&submit=Quick%0D%10425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP1B rs2155722 0.646166 0.5576 0.6519 1 0 0 exonic exonic exonic RRP1B RRP1B ENSG00000160208 synonymous SNV synonymous SNV unknown RRP1B:NM_015056:exon7:c.G603A:p.A201A, RRP1B:uc002zdk.3:exon7:c.G603A:p.A201A, UNKNOWN Het;G>A 737;61|38 Het;G>A 1020;57|54 Hom;G>A 2358;0|88 N N - 21 45107562 45107562 T C snp nonsynonymous SNV T1307C L436P aliphatic,hydrophobic,neutral hydrophobic,neutral RRP1B Rrp1b ENSG00000160208 ribosomal RNA processing 1B chr21:45079429-45115958 Tobacco Use Disorder; breast cancer; breast cancer GO:0006364;rRNA processing;IBA|GO:0010923;negative regulation of phosphatase activity;IDA GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0030688;preribosome, small subunit precursor;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RRP1B https://www.ncbi.nlm.nih.gov/omim/?term=610654 http://www.informatics.jax.org/searchtool/Search.do?query=RRP1B&submit=Quick%0D%10425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP1B rs9306160 0.799521 0.7039 0.6952 0.08 1 12 exonic exonic exonic RRP1B RRP1B ENSG00000160208 nonsynonymous SNV nonsynonymous SNV unknown RRP1B:NM_015056:exon13:c.T1307C:p.L436P, RRP1B:uc002zdk.3:exon13:c.T1307C:p.L436P, UNKNOWN Het;T>C 900;47|39 Het;T>C 738;26|34 Hom;T>C 1432;0|48 N N - 21 45928055 45928055 T C snp ncRNA_exonic TSPEAR-AS1 rs233225 0.939097 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic TSPEAR-AS1 TSPEAR ENSG00000235890 Na Na Na Na Na Na Het;T>C 3619;175|165 Het;T>C 3507;193|170 Hom;T>C 9487;4|354 N N - 21 45942111 45942111 A G snp intronic TSPEAR Tspear ENSG00000175894 thrombospondin type laminin G domain and EAR repeats chr21:45917775-46131495 This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Hemoglobin A, Glycosylated; Iron GO:0007605;sensory perception of sound;IMP GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TSPEAR https://hpo.jax.org/app/browse/search?q=TSPEAR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612920 http://www.informatics.jax.org/searchtool/Search.do?query=TSPEAR&submit=Quick%0D%13770ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPEAR rs233230 0.884185 0 0 1 0 0 intronic intronic intronic TSPEAR TSPEAR ENSG00000175894 Na Na Na Na Na Na Het;A>G 115;6|5 Het;A>G 102;7|4 Hom;A>G 178;0|5 N N - 21 46078351 46078351 C T snp intronic TSPEAR Tspear ENSG00000175894 thrombospondin type laminin G domain and EAR repeats chr21:45917775-46131495 This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Hemoglobin A, Glycosylated; Iron GO:0007605;sensory perception of sound;IMP GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TSPEAR https://hpo.jax.org/app/browse/search?q=TSPEAR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612920 http://www.informatics.jax.org/searchtool/Search.do?query=TSPEAR&submit=Quick%0D%13770ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPEAR rs11702280 0.584665 0 0 1 0 0 intronic intronic intronic TSPEAR TSPEAR ENSG00000175894 Na Na Na Na Na Na Het;C>T 163;5|6 Ref Hom;C>T 134;0|4 N N - 21 46349031 46349031 T C snp ncRNA_exonic ITGB2-AS1 rs9983174 0.529153 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ITGB2-AS1 ITGB2-AS1 ENSG00000227039 Na Na Na Na Na Na Het;T>C 2731;135|121 Het;T>C 2487;92|111 Hom;T>C 6800;2|251 N N - 21 46349496 46349496 C T snp ncRNA_exonic ITGB2-AS1 rs1721 0.463458 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ITGB2-AS1 ITGB2-AS1 ENSG00000227039 Na Na Na Na Na Na Het;C>T 366;16|16 Het;C>T 408;9|16 Hom;C>T 469;0|15 N N - 21 46349590 46349590 A G snp ncRNA_exonic ITGB2-AS1 rs11702488 0.336661 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ITGB2-AS1 ITGB2-AS1 ENSG00000227039,ENSG00000273027 Na Na Na Na Na Na Het;A>G 455;14|21 Het;A>G 99;13|6 Hom;A>G 514;0|21 N N - 21 46349702 46349702 A G snp ncRNA_exonic AL844908.2 rs9983621 0.460064 0 0 1 0 0 upstream;downstream upstream;downstream ncRNA_exonic ITGB2;ITGB2-AS1 ITGB2;ITGB2-AS1 ENSG00000273027 Na Na Na Na Na Na Het;A>G 421;6|20 Het;A>G 241;22|14 Hom;A>G 680;2|28 N N - 21 46353062 46353062 G A snp UTR3 *1067C>T LINC01547 rs7277732 0.435104 0 0 1 0 0 downstream downstream UTR3 LINC01547 C21orf67 ENSG00000183250(ENST00000397841:c.*1067C>T) Na Na Na Na Na Na Het;G>A 103;6|4 Ref Hom;G>A 264;0|9 N N - 21 46353125 46353125 C G snp UTR3 *1004G>C LINC01547 rs7278847 0.458267 0 0 1 0 0 downstream downstream UTR3 LINC01547 C21orf67 ENSG00000183250(ENST00000397841:c.*1004G>C) Na Na Na Na Na Na Het;C>G 443;9|14 Het;C>G 258;6|9 Hom;C>G 532;0|16 N N - 21 46353312 46353312 A G snp ncRNA_exonic LINC01547 rs7283236 0.464457 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01547 C21orf67(uc011afm.2:c.*817T>C) ENSG00000183250(ENST00000397841:c.*817T>C) Na Na Na Na Na Na Het;A>G 935;67|44 Het;A>G 917;48|43 Hom;A>G 2363;1|84 N N - 21 46353637 46353637 T C snp ncRNA_exonic LINC01547 rs7278544 0.469848 0.5061 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01547 C21orf67(uc011afm.2:c.*492A>G) ENSG00000183250(ENST00000397841:c.*492A>G) Na Na Na Na Na Na Het;T>C 5085;243|221 Het;T>C 3680;206|166 Hom;T>C 9217;2|337 N N - 21 46353678 46353678 G A snp ncRNA_exonic LINC01547 rs7282201 0.144569 0.1555 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01547 C21orf67(uc011afm.2:c.*451C>T) ENSG00000183250(ENST00000397841:c.*451C>T) Na Na Na Na Na Na Het;G>A 5179;225|222 Het;G>A 3076;203|145 Hom;G>A 8770;3|327 N N - 21 46353949 46353949 C G snp ncRNA_exonic LINC01547 rs12483718 0.144569 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01547 C21orf67(uc011afm.2:c.*180G>C) ENSG00000183250(ENST00000397841:c.*180G>C) Na Na Na Na Na Na Het;C>G 2838;117|108 Het;C>G 1987;85|81 Hom;C>G 4842;0|156 N N - 21 46353985 46353985 A G snp ncRNA_exonic LINC01547 rs9974152 0.463059 0 0 1 0 0 ncRNA_exonic UTR3 UTR3 LINC01547 C21orf67(uc011afm.2:c.*144T>C) ENSG00000183250(ENST00000397841:c.*144T>C) Na Na Na Na Na Na Het;A>G 2564;140|103 Het;A>G 2288;117|96 Hom;A>G 6556;0|222 N N - 21 46355531 46355531 A G snp ncRNA_intronic LINC01547 rs11088970 0.463059 0.5050 0.4554 1 0 0 ncRNA_intronic intronic intronic LINC01547 C21orf67 ENSG00000183250 Na Na Na Na Na Na Het;A>G 446;4|15 Het;A>G 83;11|5 Hom;A>G 680;0|22 N N - 21 46355710 46355710 A G snp synonymous SNV T171C R57R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) C21orf67 rs11088971 0.462859 0.5026 0.3682 1 0 0 ncRNA_exonic exonic exonic LINC01547 C21orf67 ENSG00000183250 Na synonymous SNV unknown Na C21orf67:uc011afm.2:exon2:c.T171C:p.R57R,C21orf67:uc002zgk.4:exon2:c.T171C:p.R57R,C21orf67:uc002zgj.4:exon3:c.T162C:p.R54R, UNKNOWN Het;A>G 1010;41|41 Het;A>G 822;50|38 Hom;A>G 2428;0|83 N N - 21 46355833 46355833 A G snp ncRNA_intronic LINC01547 rs11701737 0.463059 0.5031 0.4701 1 0 0 ncRNA_intronic intronic intronic LINC01547 C21orf67 ENSG00000183250 Na Na Na Na Na Na Het;A>G 385;14|18 Het;A>G 221;26|10 Hom;A>G 683;0|24 N N - 21 46357365 46357365 A G snp ncRNA_intronic LINC01547 rs4818991 0.463059 0 0 1 0 0 ncRNA_intronic intronic intronic LINC01547 C21orf67 ENSG00000183250 Na Na Na Na Na Na Het;A>G 49;7|3 Ref Hom;A>G 283;0|9 N N - 21 46419158 46419158 T C snp ncRNA_exonic LINC00162 rs1974412 0.427516 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00162 LINC00162 ENSG00000224930 Na Na Na Na Na Na Het;T>C 1397;60|54 Het;T>C 779;32|34 Hom;T>C 2153;0|73 N N - 21 46419191 46419191 G A snp ncRNA_exonic LINC00162 rs1557362 0.415535 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00162 LINC00162 ENSG00000224930 Na Na Na Na Na Na Het;G>A 1773;89|75 Het;G>A 1045;63|50 Hom;G>A 3885;0|140 N N - 21 46424513 46424513 G C snp ncRNA_exonic LINC00162 rs7276544 0.401158 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00162 LINC00162 ENSG00000224930 Na Na Na Na Na Na Het;G>C 1748;60|65 Het;G>C 1324;40|54 Hom;G>C 3169;0|102 N N - 21 46424652 46424652 G A snp upstream LINC00162 rs7276722 0.356829 0 0 1 0 0 upstream upstream upstream LINC00162 LINC00162 ENSG00000224930 Na Na Na Na Na Na Het;G>A 1592;48|69 Het;G>A 1356;64|63 Hom;G>A 2492;0|94 N N - 21 46491155 46491155 G C snp ncRNA_exonic SSR4P1 rs7282639 0.78734 0 0 1 0 0 ncRNA_exonic ncRNA_exonic downstream SSR4P1 SSR4P1 ENSG00000235374 Na Na Na Na Na Na Het;G>C 2485;97|95 Het;G>C 1913;113|81 Hom;G>C 4891;0|174 N N - 21 46493003 46493003 G A snp ncRNA_exonic SSR4P1 rs915814 0.393371 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic SSR4P1 SSR4P1 ENSG00000235374 Na Na Na Na Na Na Het;G>A 945;52|43 Het;G>A 648;47|30 Hom;G>A 2566;0|93 N N - 21 46654418 46654418 C T snp ncRNA_exonic C21orf89 rs3753016 0.393371 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic ADARB1(dist=7940),POFUT2(dist=29425) C21orf89 ENSG00000182586 Na Na Na Na Na Na Het;C>T 676;57|31 Het;C>T 795;56|37 Hom;C>T 2119;0|75 N N - 21 46685592 46685592 C G snp UTR3 *1774G>C POFUT2 Pofut2 ENSG00000186866 protein O-fucosyltransferase 2 chr21:46683843-46707813 Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008] Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis Homozygous mutation of this gene results in lethality before weaning. O-glycosylation of TSR domain-containing proteins GO:0001707;mesoderm formation;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006004;fucose metabolic process;IEA|GO:0006486;protein glycosylation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010717;regulation of epithelial to mesenchymal transition;IEA|GO:0036065;fucosylation;IEA|GO:0036066;protein O-linked fucosylation;TAS|GO:0051046;regulation of secretion;IDA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IDA GO:0008417;fucosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046922;peptide-O-fucosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/POFUT2 https://www.ncbi.nlm.nih.gov/omim/?term=610249 http://www.informatics.jax.org/searchtool/Search.do?query=POFUT2&submit=Quick%0D%15725ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POFUT2 rs1006887 0.745607 0.6451 0.5849 1 0 0 UTR3 UTR3 UTR3 POFUT2(NM_015227:c.*1774G>C) POFUT2(uc002zhd.3:c.*1774G>C) ENSG00000186866(ENST00000331343:c.*1774G>C) Na Na Na Na Na Na Het;C>G 432;12|14 Het;C>G 96;10|6 Hom;C>G 741;0|26 N N - 21 46715545 46715545 G A snp ncRNA_exonic LOC642852 rs10098 0.48762 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic LOC642852 LOC642852 ENSG00000223768 Na Na Na Na Na Na Het;G>A 2453;110|104 Het;G>A 1570;123|75 Hom;G>A 5547;1|200 N N - 21 46715682 46715682 C T snp ncRNA_exonic LOC642852 rs12069 0.526358 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic LOC642852 LOC642852 ENSG00000223768 Na Na Na Na Na Na Het;C>T 2089;99|93 Het;C>T 1141;76|54 Hom;C>T 4604;2|166 N N - 21 46715873 46715873 G A snp ncRNA_exonic LOC642852 rs13049166 0.526957 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic LOC642852 LOC642852 ENSG00000223768 Na Na Na Na Na Na Het;G>A 2928;152|134 Het;G>A 1743;104|84 Hom;G>A 6521;0|241 N N - 21 46825223 46825223 G C snp intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs60499034 0 0 0 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000182871 Na Na Na Na Na Na Het;G>C 724;2|18 Het;G>C 702;2|18 Hom;G>C 1477;0|34 N N - 21 46876083 46876083 A G snp synonymous SNV A639G P213P hydrophobic,neutral hydrophobic,neutral COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs2236451 0.375599 0.3829 0.3437 1 0 0 exonic exonic exonic COL18A1 COL18A1 ENSG00000182871 synonymous SNV synonymous SNV unknown COL18A1:NM_030582:exon1:c.A639G:p.P213P,COL18A1:NM_130444:exon1:c.A639G:p.P213P, COL18A1:uc002zhi.3:exon1:c.A639G:p.P213P, UNKNOWN Het;A>G 2897;117|125 Het;A>G 1789;105|79 Hom;A>G 5851;0|209 N N - 21 46876580 46876580 C T snp nonsynonymous SNV C1136T T379M polar,hydrophilic,neutral hydrophobic,neutral COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs8133886 0.426518 0 0.3559 0.58 7 12 exonic intronic exonic COL18A1 COL18A1 ENSG00000182871 nonsynonymous SNV Na unknown COL18A1:NM_130444:exon1:c.C1136T:p.T379M, Na UNKNOWN Het;C>T 1202;58|53 Het;C>T 1291;56|64 Hom;C>T 3354;0|126 N N - 21 46906711 46906711 G A snp intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs2274809 0.355032 0 0 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000182871 Na Na Na Na Na Na Het;G>A 171;8|7 Het;G>A 331;4|15 Hom;G>A 694;0|26 N N - 21 46912947 46912947 C T snp intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs75227606 0.153554 0 0 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000182871 Na Na Na Na Na Na Het;C>T 173;2|5 Ref Hom;C>T 197;0|5 N N - 21 46912970 46912970 T A snp intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs2297289 0.459665 0 0 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000182871 Na Na Na Na Na Na Het;T>A 216;8|7 Ref Hom;T>A 284;0|8 N N - 21 46913300 46913300 G A snp intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs749625 0.154553 0 0 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000182871 Na Na Na Na Na Na Het;G>A 560;19|22 Het;G>A 270;6|10 Hom;G>A 834;0|29 N N - 21 46913517 46913517 A G snp UTR3 *2732T>C SLC19A1 Slc19a1 ENSG00000173638 solute carrier family 19 member 1 chr21:46913486-46964325 The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Meningomyelocele; homocysteine; lung cancer ; Crohn's disease; ulcerative colitis; Down syndrome; methotrexate efficacy; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; patent ductus arteriosus; heart anomalies, congenital; esophageal cancer stomach cancer; colorectal cancer; cervical cancer; heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate; Arthritis, Rheumatoid; female infertility; Arthritis, Rheumatoid|Rheumatoid Arthritis; null; rheumatoid arthritis; neural tube defects; Insulin Resistance; Apoplexy|Brain Ischemia|Stroke; Infertility, Male; Bipolar Disorder; Cholesterol; cleft lip with cleft palate cleft lip without cleft palate; prostate cancer; folate homocysteine; Hyperhomocysteinemia; Adenocarcinoma|Stomach Neoplasms; Spinal Dysraphism; Cleft Lip|Cleft Palate; stomach cancer; Body Mass Index; red cell folate concentrations; chronic obstructive pulmonary disease; Aortic Aneurysm, Abdominal|; lymphoma; methotrexate toxicity; omphalocele; Chronic renal failure|Kidney Failure, Chronic; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; leukemia; methotrexate levels; 1-carbon metabolism; bladder cancer; non-Hodgkin's lymphoma; thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; drug hypersensitivity; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; gastrointestinal toxicity leukemia; kidney failure, chronic; folate; homocysteine; breast cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; folate, erythrocyte homocysteine thromboembolism, venous; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; colon cancer; oxidative stress; Coronary Artery Disease|Folic Acid Deficiency; kidney transplant; folate; homocysteine; Type 2 Diabetes| edema | rosiglitazone; Hyperparathyroidism, Secondary Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. Metabolism of folate and pterines GO:0006810;transport;IEA|GO:0015884;folic acid transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0051958;methotrexate transport;IEA|GO:0098838;reduced folate transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA GO:0005542;folic acid binding;IEA|GO:0008517;folic acid transporter activity;IEA|GO:0008518;reduced folate carrier activity;IDA|GO:0015350;methotrexate transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC19A1 https://www.ncbi.nlm.nih.gov/omim/?term=600424 http://www.informatics.jax.org/searchtool/Search.do?query=SLC19A1&submit=Quick%0D%13400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC19A1 rs749627 0.520966 0.4382 0.4655 1 0 0 intronic intronic UTR3 COL18A1 COL18A1 ENSG00000173638(ENST00000417954:c.*2732T>C) Na Na Na Na Na Na Het;A>G 987;45|43 Het;A>G 863;37|39 Hom;A>G 1300;0|47 N N - 21 46913611 46913611 T C snp UTR3 *2638A>G SLC19A1 Slc19a1 ENSG00000173638 solute carrier family 19 member 1 chr21:46913486-46964325 The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Meningomyelocele; homocysteine; lung cancer ; Crohn's disease; ulcerative colitis; Down syndrome; methotrexate efficacy; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; patent ductus arteriosus; heart anomalies, congenital; esophageal cancer stomach cancer; colorectal cancer; cervical cancer; heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate; Arthritis, Rheumatoid; female infertility; Arthritis, Rheumatoid|Rheumatoid Arthritis; null; rheumatoid arthritis; neural tube defects; Insulin Resistance; Apoplexy|Brain Ischemia|Stroke; Infertility, Male; Bipolar Disorder; Cholesterol; cleft lip with cleft palate cleft lip without cleft palate; prostate cancer; folate homocysteine; Hyperhomocysteinemia; Adenocarcinoma|Stomach Neoplasms; Spinal Dysraphism; Cleft Lip|Cleft Palate; stomach cancer; Body Mass Index; red cell folate concentrations; chronic obstructive pulmonary disease; Aortic Aneurysm, Abdominal|; lymphoma; methotrexate toxicity; omphalocele; Chronic renal failure|Kidney Failure, Chronic; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; leukemia; methotrexate levels; 1-carbon metabolism; bladder cancer; non-Hodgkin's lymphoma; thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; drug hypersensitivity; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; gastrointestinal toxicity leukemia; kidney failure, chronic; folate; homocysteine; breast cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; folate, erythrocyte homocysteine thromboembolism, venous; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; colon cancer; oxidative stress; Coronary Artery Disease|Folic Acid Deficiency; kidney transplant; folate; homocysteine; Type 2 Diabetes| edema | rosiglitazone; Hyperparathyroidism, Secondary Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. Metabolism of folate and pterines GO:0006810;transport;IEA|GO:0015884;folic acid transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0051958;methotrexate transport;IEA|GO:0098838;reduced folate transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA GO:0005542;folic acid binding;IEA|GO:0008517;folic acid transporter activity;IEA|GO:0008518;reduced folate carrier activity;IDA|GO:0015350;methotrexate transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC19A1 https://www.ncbi.nlm.nih.gov/omim/?term=600424 http://www.informatics.jax.org/searchtool/Search.do?query=SLC19A1&submit=Quick%0D%13400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC19A1 rs73228774 0.157348 0 0 1 0 0 intronic intronic UTR3 COL18A1 COL18A1 ENSG00000173638(ENST00000417954:c.*2638A>G) Na Na Na Na Na Na Het;T>C 285;13|9 Het;T>C 357;11|15 Hom;T>C 648;0|21 N N - 21 46915521 46915521 C CACAT indel UTR3 *728G>ATGTG SLC19A1 Slc19a1 ENSG00000173638 solute carrier family 19 member 1 chr21:46913486-46964325 The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Meningomyelocele; homocysteine; lung cancer ; Crohn's disease; ulcerative colitis; Down syndrome; methotrexate efficacy; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; patent ductus arteriosus; heart anomalies, congenital; esophageal cancer stomach cancer; colorectal cancer; cervical cancer; heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate; Arthritis, Rheumatoid; female infertility; Arthritis, Rheumatoid|Rheumatoid Arthritis; null; rheumatoid arthritis; neural tube defects; Insulin Resistance; Apoplexy|Brain Ischemia|Stroke; Infertility, Male; Bipolar Disorder; Cholesterol; cleft lip with cleft palate cleft lip without cleft palate; prostate cancer; folate homocysteine; Hyperhomocysteinemia; Adenocarcinoma|Stomach Neoplasms; Spinal Dysraphism; Cleft Lip|Cleft Palate; stomach cancer; Body Mass Index; red cell folate concentrations; chronic obstructive pulmonary disease; Aortic Aneurysm, Abdominal|; lymphoma; methotrexate toxicity; omphalocele; Chronic renal failure|Kidney Failure, Chronic; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; leukemia; methotrexate levels; 1-carbon metabolism; bladder cancer; non-Hodgkin's lymphoma; thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; drug hypersensitivity; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; gastrointestinal toxicity leukemia; kidney failure, chronic; folate; homocysteine; breast cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; folate, erythrocyte homocysteine thromboembolism, venous; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; colon cancer; oxidative stress; Coronary Artery Disease|Folic Acid Deficiency; kidney transplant; folate; homocysteine; Type 2 Diabetes| edema | rosiglitazone; Hyperparathyroidism, Secondary Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. Metabolism of folate and pterines GO:0006810;transport;IEA|GO:0015884;folic acid transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0051958;methotrexate transport;IEA|GO:0098838;reduced folate transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA GO:0005542;folic acid binding;IEA|GO:0008517;folic acid transporter activity;IEA|GO:0008518;reduced folate carrier activity;IDA|GO:0015350;methotrexate transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC19A1 https://www.ncbi.nlm.nih.gov/omim/?term=600424 http://www.informatics.jax.org/searchtool/Search.do?query=SLC19A1&submit=Quick%0D%13400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC19A1 rs3028017 0.842053 0 0 1 0 0 intronic intronic UTR3 COL18A1 COL18A1 ENSG00000173638(ENST00000417954:c.*728G>ATGTG) Na Na Na Na Na Na Het;+ACAT 35;4|2 Het;+ACAT 38;3|2 Hom;+ACAT 278;0|7 N N - 21 46916516 46916517 AC A indel intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs397867048 0.471446 0.4898 0.4509 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000173638,ENSG00000182871 Na Na Na Na Na Na Het;-C 3314;145|117 Het;-C 2179;111|78 Hom;-C 7321;0|209 N N - 21 46916699 46916699 C G snp intronic COL18A1 Col18a1 ENSG00000182871 collagen type XVIII alpha 1 chain chr21:46825052-46933634 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] lung cancer ; lung cancer; multiple myeloma; Diabetes Mellitus, Type 2|Obesity; leukemia; Socioeconomic Factors; chronic obstructive pulmonary disease; prostate cancer; gastric adenocarcinoma; bladder cancer; breast cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Myopia; endometriosis; atopy; Hepatopulmonary Syndrome|Liver Cirrhosis Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0001886;endothelial cell morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IEA|GO:0030574;collagen catabolic process;TAS|GO:0042493;response to drug;IEA|GO:0051599;response to hydrostatic pressure;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL18A1 https://hpo.jax.org/app/browse/search?q=COL18A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120328 http://www.informatics.jax.org/searchtool/Search.do?query=COL18A1&submit=Quick%0D%14870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL18A1 rs9983797 0.154553 0 0 1 0 0 intronic intronic intronic COL18A1 COL18A1 ENSG00000173638,ENSG00000182871 Na Na Na Na Na Na Het;C>G 482;9|14 Het;C>G 224;6|7 Hom;C>G 365;0|10 N N - 21 46955883 46955883 G A snp intronic SLC19A1 Slc19a1 ENSG00000173638 solute carrier family 19 member 1 chr21:46913486-46964325 The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Meningomyelocele; homocysteine; lung cancer ; Crohn's disease; ulcerative colitis; Down syndrome; methotrexate efficacy; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm of lung ; patent ductus arteriosus; heart anomalies, congenital; esophageal cancer stomach cancer; colorectal cancer; cervical cancer; heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate; Arthritis, Rheumatoid; female infertility; Arthritis, Rheumatoid|Rheumatoid Arthritis; null; rheumatoid arthritis; neural tube defects; Insulin Resistance; Apoplexy|Brain Ischemia|Stroke; Infertility, Male; Bipolar Disorder; Cholesterol; cleft lip with cleft palate cleft lip without cleft palate; prostate cancer; folate homocysteine; Hyperhomocysteinemia; Adenocarcinoma|Stomach Neoplasms; Spinal Dysraphism; Cleft Lip|Cleft Palate; stomach cancer; Body Mass Index; red cell folate concentrations; chronic obstructive pulmonary disease; Aortic Aneurysm, Abdominal|; lymphoma; methotrexate toxicity; omphalocele; Chronic renal failure|Kidney Failure, Chronic; Congenital Heart Defects|Down Syndrome|Heart Defects, Congenital|Heart Septal Defects; leukemia; methotrexate levels; 1-carbon metabolism; bladder cancer; non-Hodgkin's lymphoma; thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; drug hypersensitivity; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; gastrointestinal toxicity leukemia; kidney failure, chronic; folate; homocysteine; breast cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; folate, erythrocyte homocysteine thromboembolism, venous; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell; colon cancer; oxidative stress; Coronary Artery Disease|Folic Acid Deficiency; kidney transplant; folate; homocysteine; Type 2 Diabetes| edema | rosiglitazone; Hyperparathyroidism, Secondary Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. Metabolism of folate and pterines GO:0006810;transport;IEA|GO:0015884;folic acid transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0051958;methotrexate transport;IEA|GO:0098838;reduced folate transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA GO:0005542;folic acid binding;IEA|GO:0008517;folic acid transporter activity;IEA|GO:0008518;reduced folate carrier activity;IDA|GO:0015350;methotrexate transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC19A1 https://www.ncbi.nlm.nih.gov/omim/?term=600424 http://www.informatics.jax.org/searchtool/Search.do?query=SLC19A1&submit=Quick%0D%13400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC19A1 rs11702537 0.479433 0 0 1 0 0 intronic intronic intronic SLC19A1 SLC19A1 ENSG00000173638 Na Na Na Na Na Na Het;G>A 81;5|5 Ref Hom;G>A 71;0|4 N N - 21 47320805 47320805 G A snp intronic PCBP3 Pcbp3 ENSG00000183570 poly(rC) binding protein 3 chr21:47063608-47362368 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Bipolar Disorder GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0016071;mRNA metabolic process;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:1990829;C-rich single-stranded DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCBP3 https://www.ncbi.nlm.nih.gov/omim/?term=608502 http://www.informatics.jax.org/searchtool/Search.do?query=PCBP3&submit=Quick%0D%15012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCBP3 rs1547240 0.472444 0 0 1 0 0 intronic intronic intronic PCBP3 PCBP3 ENSG00000183570 Na Na Na Na Na Na Het;G>A 297;10|10 Het;G>A 177;6|7 Hom;G>A 488;0|15 N N - 21 47350796 47350796 G A snp intronic PCBP3 Pcbp3 ENSG00000183570 poly(rC) binding protein 3 chr21:47063608-47362368 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Bipolar Disorder GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0016071;mRNA metabolic process;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:1990829;C-rich single-stranded DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCBP3 https://www.ncbi.nlm.nih.gov/omim/?term=608502 http://www.informatics.jax.org/searchtool/Search.do?query=PCBP3&submit=Quick%0D%15012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCBP3 rs11089031 0.251997 0.2648 0.2734 1 0 0 intronic intronic intronic PCBP3 PCBP3 ENSG00000183570,ENSG00000268040 Na Na Na Na Na Na Het;G>A 824;44|41 Het;G>A 984;34|43 Hom;G>A 2451;4|91 N N - 21 47417206 47417206 A G snp intronic COL6A1 Col6a1 ENSG00000142156 collagen type VI alpha 1 chain chr21:47401651-47424964 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Collagen chain trimerization GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL6A1 https://www.uniprot.org/uniprot/P12109 https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120220 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1 rs11701583 0.578275 0 0 1 0 0 intronic intronic intronic COL6A1 COL6A1 ENSG00000142156 Na Na Na Na Na Na Het;A>G 700;41|28 Het;A>G 406;39|20 Hom;A>G 1378;0|43 N N - 21 47417415 47417415 C A snp intronic COL6A1 Col6a1 ENSG00000142156 collagen type VI alpha 1 chain chr21:47401651-47424964 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Collagen chain trimerization GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL6A1 https://www.uniprot.org/uniprot/P12109 https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120220 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1 rs2276254 0.610024 0.5424 0.5994 1 0 0 intronic intronic intronic COL6A1 COL6A1 ENSG00000142156 Na Na Na Na Na Na Het;C>A 2294;103|102 Het;C>A 1951;83|89 Hom;C>A 3967;0|148 N N - 21 47417432 47417432 A AG indel intronic COL6A1 Col6a1 ENSG00000142156 collagen type VI alpha 1 chain chr21:47401651-47424964 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Collagen chain trimerization GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL6A1 https://www.uniprot.org/uniprot/P12109 https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120220 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1 rs3216137 0.722045 0.7231 0.7498 1 0 0 intronic intronic intronic COL6A1 COL6A1 ENSG00000142156 Na Na Na Na Na Na Het;+G 2149;84|88 Het;+G 1867;63|75 Hom;+G 4012;0|132 N N - 21 47420761 47420761 G A snp intronic COL6A1 Col6a1 ENSG00000142156 collagen type VI alpha 1 chain chr21:47401651-47424964 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Collagen chain trimerization GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL6A1 https://www.uniprot.org/uniprot/P12109 https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120220 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1 rs7283989 0.559505 0.5020 0 1 0 0 intronic intronic intronic COL6A1 COL6A1 ENSG00000142156 Na Na Na Na Na Na Het;G>A 742;26|31 Het;G>A 476;20|23 Hom;G>A 1416;0|33 N N - 21 47421315 47421315 C T snp intronic COL6A1 Col6a1 ENSG00000142156 collagen type VI alpha 1 chain chr21:47401651-47424964 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Collagen chain trimerization GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL6A1 https://www.uniprot.org/uniprot/P12109 https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120220 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1 rs11701124 0.558307 0.4687 0.5232 1 0 0 intronic intronic intronic COL6A1 COL6A1 ENSG00000142156 Na Na Na Na Na Na Het;C>T 1935;80|87 Het;C>T 841;79|43 Hom;C>T 3114;0|112 N N - 21 47422412 47422412 C T snp intronic COL6A1 Col6a1 ENSG00000142156 collagen type VI alpha 1 chain chr21:47401651-47424964 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] Ossification of Posterior Longitudinal Ligament|Ossification, Heterotopic; Alzheimer's disease ; Ullrich congenital muscular dystrophy; Hyperostosis|Ossification of Posterior Longitudinal Ligament|Spondylitis, Ankylosing|Uveitis; skeletal hyperostosis; Alcoholism; ossification of the posterior longitudinal ligament of the spine Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Collagen chain trimerization GO:0001649;osteoblast differentiation;IDA|GO:0007155;cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0070208;protein heterotrimerization;IPI|GO:0071230;cellular response to amino acid stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;NAS|GO:0005615;extracellular space;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IDA|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IPI|GO:0070062;extracellular exosome;IDA GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL6A1 https://www.uniprot.org/uniprot/P12109 https://hpo.jax.org/app/browse/search?q=COL6A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120220 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A1&submit=Quick%0D%8252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A1 rs35796750 0.551318 0.4825 0.5620 1 0 0 intronic intronic intronic COL6A1 COL6A1 ENSG00000142156 Na Na Na Na Na Na Het;C>T 1522;68|68 Het;C>T 1172;53|49 Hom;C>T 3507;0|123 N N - 21 47573090 47573090 A G snp intronic FTCD Ftcd ENSG00000281775 formimidoyltransferase cyclodeaminase chr21:47556176-47575481 The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009] Cleft Lip|Cleft Palate; Spinal Dysraphism; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease GO:0008152;metabolic process;IEA|GO:0044237;cellular metabolic process;IEA GO:0003824;catalytic activity;IEA|GO:0005542;folic acid binding;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FTCD https://hpo.jax.org/app/browse/search?q=FTCD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606806 http://www.informatics.jax.org/searchtool/Search.do?query=FTCD&submit=Quick%0D%22337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FTCD rs9976772 0.941494 0 0 1 0 0 intronic intronic intronic FTCD FTCD ENSG00000160282 Na Na Na Na Na Na Het;A>G 169;8|6 Het;A>G 76;3|3 Hom;A>G 211;0|6 N N - 21 47769134 47769134 A T snp intronic PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs35210219 0.313099 0.2543 0.2034 1 0 0 intronic intronic intronic PCNT PCNT ENSG00000160299 Na Na Na Na Na Na Het;A>T 1200;48|50 Het;A>T 1061;43|44 Hom;A>T 1970;0|73 N N - 21 47786524 47786524 A G snp nonsynonymous SNV A2635G T879A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs2839227 0.316693 0.2597 0.2050 0.08 1 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon15:c.A2635G:p.T879A, PCNT:uc002zji.4:exon15:c.A2635G:p.T879A,PCNT:uc002zjj.3:exon15:c.A2281G:p.T761A, UNKNOWN Het;A>G 1271;51|57 Het;A>G 1117;59|57 Hom;A>G 2708;0|99 N N - 21 47805663 47805663 C G snp intronic PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs2073378 0.338858 0 0 1 0 0 intronic intronic intronic PCNT PCNT ENSG00000160299 Na Na Na Na Na Na Het;C>G 221;6|7 Het;C>G 156;5|5 Hom;C>G 265;0|8 N N - 21 47821588 47821588 A G snp nonsynonymous SNV A4915G I1639V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs6518291 0.334665 0.3136 0.2494 0.08 1 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon26:c.A4915G:p.I1639V, PCNT:uc002zji.4:exon26:c.A4915G:p.I1639V,PCNT:uc002zjj.3:exon26:c.A4561G:p.I1521V, UNKNOWN Het;A>G 1653;109|80 Het;A>G 1657;65|70 Hom;A>G 4039;0|142 N N - 21 9473396 9473396 T A snp intergenic NONE rs375027891 0.515575 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR3648-1(dist=352436) NONE(dist=NONE),DQ579288(dist=216675) NONE(dist=NONE),ENSG00000238411(dist=209795) Na Na Na Na Na Na Het;T>A 36;3|2 Ref Hom;T>A 71;0|4 N N - 21 9577137 9577137 A T snp intergenic NONE rs78494576 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR3648-1(dist=248695) NONE(dist=NONE),DQ579288(dist=112934) NONE(dist=NONE),ENSG00000238411(dist=106054) Na Na Na Na Na Na Het;A>T 812;20|28 Het;A>T 578;22|20 Hom;A>T 772;0|25 N N - 21 9577247 9577247 T C snp intergenic NONE rs77203822 0.790136 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR3648-1(dist=248585) NONE(dist=NONE),DQ579288(dist=112824) NONE(dist=NONE),ENSG00000238411(dist=105944) Na Na Na Na Na Na Het;T>C 2552;94|99 Het;T>C 1875;110|85 Hom;T>C 3201;0|114 N N - 21 9829627 9829627 C A snp intergenic MIR3687-1 rs74417599 0 0 0 1 0 0 intergenic intergenic intergenic MIR3687-1(dist=3364),TEKT4P2(dist=77562) MIR3687(dist=3364),TEKT4P2(dist=77562) ENSG00000264063(dist=3364),ENSG00000188681(dist=77563) Na Na Na Na Na Na Het;C>A 50;2|2 Ref Hom;C>A 152;0|4 N N - 21 9829629 9829629 C G snp intergenic MIR3687-1 rs78309124 0 0 0 1 0 0 intergenic intergenic intergenic MIR3687-1(dist=3366),TEKT4P2(dist=77560) MIR3687(dist=3366),TEKT4P2(dist=77560) ENSG00000264063(dist=3366),ENSG00000188681(dist=77561) Na Na Na Na Na Na Het;C>G 50;2|2 Ref Hom;C>G 152;0|4 N N - 21 9859749 9859749 G A snp intergenic MIR3687-1 rs1826495 0 0 0 1 0 0 intergenic intergenic intergenic MIR3687-1(dist=33486),TEKT4P2(dist=47440) MIR3687(dist=33486),TEKT4P2(dist=47440) ENSG00000264063(dist=33486),ENSG00000188681(dist=47441) Na Na Na Na Na Na Het;G>A 48;1|3 Ref Hom;G>A 59;0|3 N N - 21 9885882 9885882 T C snp intergenic MIR3687-1 rs77669077 0.627596 0 0 1 0 0 intergenic intergenic intergenic MIR3687-1(dist=59619),TEKT4P2(dist=21307) MIR3687(dist=59619),TEKT4P2(dist=21307) ENSG00000264063(dist=59619),ENSG00000188681(dist=21308) Na Na Na Na Na Na Het;T>C 1505;43|51 Het;T>C 1387;32|54 Hom;T>C 1287;0|38 N N - 21 9885917 9885917 C A snp intergenic MIR3687-1 rs4621513 0 0 0 1 0 0 intergenic intergenic intergenic MIR3687-1(dist=59654),TEKT4P2(dist=21272) MIR3687(dist=59654),TEKT4P2(dist=21272) ENSG00000264063(dist=59654),ENSG00000188681(dist=21273) Na Na Na Na Na Na Het;C>A 1798;79|54 Het;C>A 2195;62|68 Hom;C>A 1948;0|50 N N - 22 16231371 16231371 A T snp upstream LINC01297 rs5746315 0.421725 0 0 1 0 0 intergenic intergenic upstream DUXAP8(dist=38362),POTEH(dist=24961) AK022914(dist=38367),DQ590589(dist=7917) ENSG00000225255 Na Na Na Na Na Na Het;A>T 171;9|10 Het;A>T 370;4|15 Hom;A>T 276;1|11 N N - 22 16388301 16388301 A G snp intergenic POTEH ENSG00000198062 POTE ankyrin domain family member H chr22:16256441-16287937 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/POTEH https://www.ncbi.nlm.nih.gov/omim/?term=608913 http://www.informatics.jax.org/searchtool/Search.do?query=POTEH&submit=Quick%0D%16803ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POTEH rs2154872 0.744609 0 0 1 0 0 intergenic intergenic intergenic POTEH(dist=100364),OR11H1(dist=60523) POTEH(dist=100364),OR11H1(dist=60523) ENSG00000230471(dist=11246),ENSG00000230643(dist=1184) Na Na Na Na Na Na Het;A>G 3020;46|125 Ref Hom;A>G 3845;1|135 N N - 22 16872056 16872056 G A snp downstream ABCD1P4 rs7292129 0.0571086 0 0 1 0 0 intergenic intergenic downstream OR11H1(dist=422252),CCT8L2(dist=199592) OR11H1(dist=422252),DQ571479(dist=157560) ENSG00000225293 Na Na Na Na Na Na Het;G>A 128;9|6 Het;G>A 294;2|13 Hom;G>A 384;0|15 N N - 22 16873122 16873122 T G snp intergenic OR11H1 ENSG00000130538 chr22:16448824-16449805 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR11H1 https://www.uniprot.org/uniprot/Q8NG94 http://www.informatics.jax.org/searchtool/Search.do?query=OR11H1&submit=Quick%0D%6387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11H1 rs131549 0.479233 0 0 1 0 0 intergenic intergenic intergenic OR11H1(dist=423318),CCT8L2(dist=198526) OR11H1(dist=423318),DQ571479(dist=156494) ENSG00000225293(dist=1509),ENSG00000226160(dist=12934) Na Na Na Na Na Na Het;T>G 85;1|4 Ref Hom;T>G 366;0|9 N N - 22 16886019 16886019 C T snp upstream AC137499.1 rs5746886 0.15595 0 0 1 0 0 intergenic intergenic upstream OR11H1(dist=436215),CCT8L2(dist=185629) OR11H1(dist=436215),DQ571479(dist=143597) ENSG00000226160 Na Na Na Na Na Na Het;C>T 108;14|7 Ref Hom;C>T 250;0|9 N N - 22 16889393 16889393 C T snp intergenic OR11H1 ENSG00000130538 chr22:16448824-16449805 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR11H1 https://www.uniprot.org/uniprot/Q8NG94 http://www.informatics.jax.org/searchtool/Search.do?query=OR11H1&submit=Quick%0D%6387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11H1 rs66726715 0.0567093 0 0 1 0 0 intergenic intergenic intergenic OR11H1(dist=439589),CCT8L2(dist=182255) OR11H1(dist=439589),DQ571479(dist=140223) ENSG00000226160(dist=3250),ENSG00000229658(dist=15275) Na Na Na Na Na Na Het;C>T 191;9|7 Het;C>T 210;3|6 Hom;C>T 274;0|7 N N - 22 17009340 17009340 A ATGCCC indel intergenic OR11H1 ENSG00000130538 chr22:16448824-16449805 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR11H1 https://www.uniprot.org/uniprot/Q8NG94 http://www.informatics.jax.org/searchtool/Search.do?query=OR11H1&submit=Quick%0D%6387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11H1 rs199985059 0.342652 0 0 1 0 0 intergenic intergenic intergenic OR11H1(dist=559536),CCT8L2(dist=62308) OR11H1(dist=559536),DQ571479(dist=20276) ENSG00000273362(dist=1213),ENSG00000233995(dist=43577) Na Na Na Na Na Na Het;+TGCCC 209;2|6 Ref Hom;+TGCCC 278;0|7 N N - 22 17669469 17669469 T C snp intronic CECR1 rs9617966 0.277955 0 0 1 0 0 intronic intronic intronic CECR1 CECR1 ENSG00000093072 Na Na Na Na Na Na Het;T>C 80;3|3 Ref Hom;T>C 193;0|6 N N - 22 18836534 18836535 AT A indel intronic AC008132.1 Na 0 0 0 1 0 0 intergenic intronic intronic GGT3P(dist=57060),DGCR6(dist=57201) BC112340 ENSG00000161103 Na Na Na Na Na Na Het;-T 155;26|12 Het;-T 132;6|9 Hom;-T 167;0|8 N N - 22 19467297 19467297 C G snp UTR5 -195C>G CDC45 Cdc45 ENSG00000093009 cell division cycle 45 chr22:19466982-19508135 The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile. Activation of the pre-replicative complex GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CDC45 https://www.uniprot.org/uniprot/O75419 https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603465 http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45 rs4141528 0.0958466 0 0 1 0 0 upstream upstream UTR5 CDC45,UFD1L CDC45,UFD1L ENSG00000093009(ENST00000455750:c.-195C>G) Na Na Na Na Na Na Het;C>G 41;2|2 Ref Hom;C>G 141;0|4 N N - 22 20139299 20139299 C T snp upstream CCDC188 Ccdc188 rs175182 0.546326 0 0 1 0 0 intergenic intergenic upstream LOC388849(dist=1868),LOC284865(dist=46954) LOC388849(dist=1868),LOC284865(dist=46954) ENSG00000234409 Na Na Na Na Na Na Het;C>T 31;2|3 Ref Hom;C>T 179;0|9 N N - 22 20139340 20139340 C T snp upstream CCDC188 Ccdc188 rs175183 0.546126 0 0 1 0 0 intergenic intergenic upstream LOC388849(dist=1909),LOC284865(dist=46913) LOC388849(dist=1909),LOC284865(dist=46913) ENSG00000234409 Na Na Na Na Na Na Het;C>T 50;2|2 Ref Hom;C>T 196;0|6 N N - 22 20946302 20946302 G T snp ncRNA_exonic CCDC74BP1 rs165591 0.395567 0 0 1 0 0 intergenic intergenic ncRNA_exonic MED15(dist=4383),POM121L4P(dist=97541) MED15(dist=4383),BC035867(dist=24215) ENSG00000250261 Na Na Na Na Na Na Het;G>T 137;3|8 Het;G>T 140;2|8 Hom;G>T 428;0|18 N N - 22 21025559 21025559 C T snp upstream ABHD17AP4 rs9608279 0.479832 0 0 1 0 0 intergenic intergenic upstream MED15(dist=83640),POM121L4P(dist=18284) BC035867(dist=14358),POM121L4P(dist=18284) ENSG00000229107 Na Na Na Na Na Na Het;C>T 91;3|6 Ref Hom;C>T 222;0|9 N N - 22 21048166 21048166 C T snp ncRNA_intronic POM121L4P rs34534584 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic POM121L4P(dist=2157),TMEM191A(dist=7236) DQ571461(dist=2130),TMEM191A(dist=7236) ENSG00000217261 Na Na Na Na Na Na Het;C>T 76;4|4 Ref Hom;C>T 279;0|9 N N - 22 21242599 21242603 TCACA T indel UTR3 *475_*479delinsT SNAP29 Snap29 ENSG00000099940 synaptosome associated protein 29 chr22:21213271-21245506 This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008] Urogenital Abnormalities; several psychiatric disorders; schizophrenia Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress. Intra-Golgi traffic GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SNAP29 https://www.uniprot.org/uniprot/O95721 https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604202 http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29 rs575240461 0 0 0 1 0 0 UTR3 UTR3 UTR3 SNAP29(NM_004782:c.*475_*479delinsT) SNAP29(uc011ahw.2:c.*475_*479delinsT) ENSG00000099940(ENST00000215730:c.*475_*479delinsT) Na Na Na Na Na Na Het;-CACA 293;8|9 Ref Hom;-CACA 815;0|21 N N - 22 21650176 21650176 A C snp ncRNA_exonic POM121L8P rs868699102 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic POM121L8P POM121L8P ENSG00000169662(dist=1301),ENSG00000206142(dist=5103) Na Na Na Na Na Na Het;A>C 189;21|9 Ref Hom;A>C 121;0|4 N N - 22 22015144 22015144 A G snp intergenic MIR130B rs9941935 0.314497 0 0 1 0 0 intergenic intergenic intergenic MIR130B(dist=7470),PPIL2(dist=5129) MIR130B(dist=7470),PPIL2(dist=5129) ENSG00000207751(dist=7470),ENSG00000272954(dist=1079) Na Na Na Na Na Na Het;A>G 53;2|4 Ref Hom;A>G 71;0|4 N N - 22 22032207 22032207 C T snp intronic PPIL2 Ppil2 ENSG00000100023 peptidylprolyl isomerase like 2 chr22:22006559-22054304 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Alzheimer's disease Basigin interactions GO:0000209;protein polyubiquitination;IDA|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0016567;protein ubiquitination;IEA|GO:0050900;leukocyte migration;TAS|GO:0072659;protein localization to plasma membrane;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IDA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPIL2 https://www.uniprot.org/uniprot/Q13356 https://www.ncbi.nlm.nih.gov/omim/?term=607588 http://www.informatics.jax.org/searchtool/Search.do?query=PPIL2&submit=Quick%0D%2377ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIL2 rs7286619 0.23722 0 0 1 0 0 intronic intronic intronic PPIL2 PPIL2 ENSG00000100023 Na Na Na Na Na Na Het;C>T 129;3|7 Ref Hom;C>T 218;0|10 N N - 22 22052550 22052550 C CAAA indel UTR3 *1521C>CAAA PPIL2 Ppil2 ENSG00000100023 peptidylprolyl isomerase like 2 chr22:22006559-22054304 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Alzheimer's disease Basigin interactions GO:0000209;protein polyubiquitination;IDA|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0016567;protein ubiquitination;IEA|GO:0050900;leukocyte migration;TAS|GO:0072659;protein localization to plasma membrane;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IDA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPIL2 https://www.uniprot.org/uniprot/Q13356 https://www.ncbi.nlm.nih.gov/omim/?term=607588 http://www.informatics.jax.org/searchtool/Search.do?query=PPIL2&submit=Quick%0D%2377ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIL2 rs397934469 0 0 0 1 0 0 UTR3 UTR3 UTR3 YPEL1(NM_013313:c.*2868G>TTTG) YPEL1(uc002zvl.3:c.*2868G>TTTG) ENSG00000100023(ENST00000335025:c.*1521C>CAAA,ENST00000406385:c.*2237C>CAAA),ENSG00000100027(ENST00000339468:c.*2868G>TTTG) Na Na Na Na Na Na Het;+AAA 925;33|39 Ref Hom;+AAA 1660;3|54 N N - 22 22055581 22055581 C A snp intronic YPEL1 Ypel1 ENSG00000100027 yippee like 1 chr22:22051833-22090123 This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015] breast cancer; Tobacco Use Disorder GO:0005634;nucleus;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YPEL1 https://www.uniprot.org/uniprot/O60688 https://www.ncbi.nlm.nih.gov/omim/?term=608082 http://www.informatics.jax.org/searchtool/Search.do?query=YPEL1&submit=Quick%0D%2379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YPEL1 rs861816 0.72504 0 0 1 0 0 intronic intronic intronic YPEL1 YPEL1 ENSG00000100027 Na Na Na Na Na Na Het;C>A 40;3|3 Het;C>A 219;1|9 Hom;C>A 113;0|5 N N - 22 22801719 22801719 G T snp ncRNA_exonic AC245291.2 rs75640115 0.0692891 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_exonic BMS1P20(dist=124395),ZNF280B(dist=37052) DKFZp667J0810,abParts ENSG00000230821 Na Na Na Na Na Na Het;G>T 58;10|4 Het;G>T 286;2|12 Hom;G>T 193;0|9 N N - 22 22900077 22900077 G A snp UTR5 -825C>T PRAME ENSG00000275013 preferentially expressed antigen in melanoma chr22:22890123-22901768 This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045596;negative regulation of cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IDA GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI|GO:0042974;retinoic acid receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PRAME https://www.ncbi.nlm.nih.gov/omim/?term=606021 http://www.informatics.jax.org/searchtool/Search.do?query=PRAME&submit=Quick%0D%21252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAME rs112279614 0.0712859 0 0 1 0 0 UTR5 ncRNA_intronic UTR5 PRAME(NM_001291715:c.-825C>T,NM_001291716:c.-825C>T,NM_001291719:c.-6593C>T) DKFZp667J0810,abParts ENSG00000185686(ENST00000403441:c.-825C>T) Na Na Na Na Na Na Het;G>A 31;5|2 Ref Hom;G>A 231;0|10 N N - 22 22981754 22981754 C T snp ncRNA_exonic POM121L1P rs140150206 0.0830671 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic POM121L1P POM121L1P ENSG00000183169 Na Na Na Na Na Na Het;C>T 4225;190|184 Ref Hom;C>T 6349;10|226 N N - 22 23089865 23089865 A G snp upstream IGLV3-16 ENSG00000211665 chr22:23089870-23090398 GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0003823;antigen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-16 http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-16&submit=Quick%0D%17814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-16 rs2040565 0.714856 0 0.6615 1 0 0 intergenic ncRNA_intronic upstream GGTLC2(dist=99497),MIR650(dist=75405) DKFZp667J0810,abParts ENSG00000211665 Na Na Na Na Na Na Het;A>G 246;5|7 Ref Hom;A>G 148;0|4 N N - 22 23482718 23482718 C T snp intronic RSPH14 Rsph14 rs4822361 0.431709 0 0 1 0 0 intronic intronic intronic RSPH14 RTDR1 ENSG00000100218 Na Na Na Na Na Na Het;C>T 106;4|4 Ref Hom;C>T 165;0|5 N N - 22 23856641 23856663 CTAGACAGCCCTCGGGAGGGAGT C indel upstream AP000345.2 rs372558305 0.155152 0 0 1 0 0 intergenic intergenic upstream LOC388882(dist=27474),IGLL1(dist=58650) LOC388882(dist=27474),IGLL1(dist=58650) ENSG00000225413 Na Na Na Na Na Na Het;-TAGACAGCCCTCGGGAGGGAGT 77;4|3 Ref Hom;-TAGACAGCCCTCGGGAGGGAGT 138;0|4 N N - 22 23994933 23994933 C T snp ncRNA_exonic ASLP1 rs17003098 0.211661 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic GUSBP11 GUSBP11 ENSG00000244723 Na Na Na Na Na Na Het;C>T 114;6|6 Ref Hom;C>T 71;0|4 N N - 22 23995213 23995213 C T snp ncRNA_intronic GUSBP11 rs3747106 0.345847 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic GUSBP11 GUSBP11 ENSG00000228315,ENSG00000244723,ENSG00000273000 Na Na Na Na Na Na Het;C>T 143;3|6 Ref Hom;C>T 91;0|4 N N - 22 24124842 24124842 A G snp intronic MMP11 Mmp11 ENSG00000275365 matrix metallopeptidase 11 chr22:24110413-24126503 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Hepatitis C, Chronic|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Mucocutaneous Lymph Node Syndrome Homozygous null mice exhibit a decreased incidence of DMBA-induced carcinomas. Activation of Matrix Metalloproteinases GO:0006508;proteolysis;TAS|GO:0007275;multicellular organism development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030574;collagen catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP11 https://www.uniprot.org/uniprot/P24347 https://www.ncbi.nlm.nih.gov/omim/?term=185261 http://www.informatics.jax.org/searchtool/Search.do?query=MMP11&submit=Quick%0D%21335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP11 rs2070455 0.864217 0 0 1 0 0 intronic intronic intronic MMP11 MMP11 ENSG00000099953,ENSG00000267954 Na Na Na Na Na Na Het;A>G 156;4|6 Ref Hom;A>G 134;0|4 N N - 22 24366843 24366843 A C snp ncRNA_exonic ENSG00000184490 rs114323341 0.426318 0 0 1 0 0 intergenic intergenic ncRNA_exonic GSTTP1(dist=19585),LOC391322(dist=6274) GSTTP1(dist=19585),LOC391322(dist=6274) ENSG00000184490 Na Na Na Na Na Na Het;A>C 170;4|5 Ref Hom;A>C 152;0|4 N N - 22 27152964 27152964 G T snp ncRNA_intronic MIATNB rs1573720 0.596446 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic MIATNB AK026502(dist=38015),AK055980(dist=291142) ENSG00000244625 Na Na Na Na Na Na Het;G>T 105;4|6 Ref Hom;G>T 56;0|4 N N - 22 30092055 30092055 C CT indel UTR3 *1616C>CT NF2 Nf2 ENSG00000186575 neurofibromin 2 chr22:29999545-30094587 This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] Neurofibromatosis type 2; Pancreatic Neoplasms; Acoustic Neurofibromatosis|meningioma|Neurofibromatosis 2|Spinal Neoplasms; meningioma; Tobacco Use Disorder; Carotid atherosclerosis in HIV infection; HIV Infections|[X]Human immunodeficiency virus disease; gastrointestinal nerve sheath tumors; vestibular schwannoma; null; neurofibromatosis2 Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2. RHO GTPases activate PAKs GO:0001707;mesoderm formation;IEA|GO:0001953;negative regulation of cell-matrix adhesion;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0007398;ectoderm development;IEA|GO:0007420;brain development;IEA|GO:0008156;negative regulation of DNA replication;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0014010;Schwann cell proliferation;IMP|GO:0014013;regulation of gliogenesis;IEA|GO:0021766;hippocampus development;IEA|GO:0022408;negative regulation of cell-cell adhesion;IDA|GO:0030036;actin cytoskeleton organization;IMP|GO:0030336;negative regulation of cell migration;TAS|GO:0031647;regulation of protein stability;IEA|GO:0035330;regulation of hippo signaling;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042532;negative regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043409;negative regulation of MAPK cascade;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0046426;negative regulation of JAK-STAT cascade;IDA|GO:0050767;regulation of neurogenesis;IEA|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0070306;lens fiber cell differentiation;IEA|GO:0072091;regulation of stem cell proliferation;IEA|GO:1900180;regulation of protein localization to nucleus;IEA|GO:2000177;regulation of neural precursor cell proliferation;IEA GO:0001726;ruffle;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0016020;membrane;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IEA|GO:0032154;cleavage furrow;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0044297;cell body;IEA|GO:0045177;apical part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NF2 https://hpo.jax.org/app/browse/search?q=NF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607379 http://www.informatics.jax.org/searchtool/Search.do?query=NF2&submit=Quick%0D%15674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NF2 Na 0 0 0 1 0 0 UTR3 UTR3 UTR3 NF2(NM_000268:c.*1264C>CT,NM_181830:c.*1324C>CT,NM_181829:c.*1324C>CT,NM_016418:c.*1324C>CT,NM_181833:c.*1264C>CT,NM_181832:c.*1339C>CT,NM_181828:c.*1324C>CT) NF2(uc003agf.4:c.*1339C>CT,uc003agb.4:c.*1324C>CT,uc003agc.4:c.*1324C>CT,uc003agg.4:c.*1324C>CT,uc003aga.4:c.*1324C>CT,uc003age.4:c.*1264C>CT,uc003agh.4:c.*1324C>CT,uc003agi.4:c.*1324C>CT,uc003agj.4:c.*1264C>CT,uc011akq.2:c.*1257C>CT) ENSG00000186575(ENST00000347330:c.*1616C>CT,ENST00000413209:c.*1264C>CT,ENST00000338641:c.*1264C>CT,ENST00000361452:c.*1324C>CT) Na Na Na Na Na Na Het;+T 153;9|10 Ref Hom;+T 171;1|13 N N - 22 31885632 31885633 CG C indel intronic EIF4ENIF1 Eif4enif1 ENSG00000184708 eukaryotic translation initiation factor 4E nuclear import factor 1 chr22:31832963-31892094 The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Electrocardiography; Echocardiography; Respiratory Function Tests GO:0006413;translational initiation;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0017148;negative regulation of translation;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045665;negative regulation of neuron differentiation;IEA GO:0000932;P-body;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0016605;PML body;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/EIF4ENIF1 https://www.ncbi.nlm.nih.gov/omim/?term=607445 http://www.informatics.jax.org/searchtool/Search.do?query=EIF4ENIF1&submit=Quick%0D%15260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF4ENIF1 rs34827286 0.737819 0 0 1 0 0 intronic intronic intronic EIF4ENIF1 EIF4ENIF1 ENSG00000184708,ENSG00000185721 Na Na Na Na Na Na Het;-G 111;5|5 Ref Hom;-G 106;0|4 N N - 22 39955873 39955873 A C snp intergenic RPS19BP1 Rps19bp1 ENSG00000187051 ribosomal protein S19 binding protein 1 chr22:39925098-39928860 Regulation of HSF1-mediated heat shock response GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;ISS|GO:0005730;nucleolus;ISS|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPS19BP1 https://www.ncbi.nlm.nih.gov/omim/?term=610225 http://www.informatics.jax.org/searchtool/Search.do?query=RPS19BP1&submit=Quick%0D%15768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS19BP1 rs9611198 0.686502 0 0 1 0 0 intergenic intergenic intergenic RPS19BP1(dist=27013),CACNA1I(dist=10885) RPS19BP1(dist=27013),CACNA1I(dist=10885) ENSG00000187051(dist=27013),ENSG00000100346(dist=10885) Na Na Na Na Na Na Het;A>C 87;5|6 Ref Hom;A>C 71;0|4 N N - 22 39963426 39963426 A G snp intergenic RPS19BP1 Rps19bp1 ENSG00000187051 ribosomal protein S19 binding protein 1 chr22:39925098-39928860 Regulation of HSF1-mediated heat shock response GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;ISS|GO:0005730;nucleolus;ISS|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPS19BP1 https://www.ncbi.nlm.nih.gov/omim/?term=610225 http://www.informatics.jax.org/searchtool/Search.do?query=RPS19BP1&submit=Quick%0D%15768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS19BP1 rs62228477 0.691893 0 0 1 0 0 intergenic intergenic intergenic RPS19BP1(dist=34566),CACNA1I(dist=3332) RPS19BP1(dist=34566),CACNA1I(dist=3332) ENSG00000187051(dist=34566),ENSG00000100346(dist=3332) Na Na Na Na Na Na Het;A>G 52;1|3 Ref Hom;A>G 106;0|4 N N - 22 40064558 40064558 T C snp intronic CACNA1I Cacna1i ENSG00000100346 calcium voltage-gated channel subunit alpha1 I chr22:39966758-40085742 This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] Hematocrit; epilepsy; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Neutrophils NCAM1 interactions GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007165;signal transduction;TAS|GO:0019228;neuronal action potential;IBA|GO:0030317;flagellated sperm motility;IEA|GO:0030431;sleep;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IBA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0070509;calcium ion import;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0005886;plasma membrane;IBA|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005248;voltage-gated sodium channel activity;IBA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008332;low voltage-gated calcium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1I https://www.uniprot.org/uniprot/Q9P0X4 https://www.ncbi.nlm.nih.gov/omim/?term=608230 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1I&submit=Quick%0D%2487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1I rs136857 0.867013 0 0 1 0 0 intronic intronic intronic CACNA1I CACNA1I ENSG00000100346 Na Na Na Na Na Na Het;T>C 124;1|4 Ref Hom;T>C 132;0|4 N N - 22 41195191 41195191 A AGTGGCATGGTT indel intronic SLC25A17 Slc25a17 ENSG00000100372 solute carrier family 25 member 17 chr22:41165634-41215403 This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Alpha-oxidation of phytanate GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006635;fatty acid beta-oxidation;IGI|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015866;ADP transport;IEA|GO:0015867;ATP transport;IGI|GO:0015908;fatty acid transport;IGI|GO:0035349;coenzyme A transmembrane transport;IEA|GO:0035350;FAD transmembrane transport;IEA|GO:0043132;NAD transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0080121;AMP transport;IEA|GO:1901679;nucleotide transmembrane transport;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IBA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000295;adenine nucleotide transmembrane transporter activity;TAS|GO:0005215;transporter activity;IEA|GO:0005347;ATP transmembrane transporter activity;IGI|GO:0005515;protein binding;IPI|GO:0015217;ADP transmembrane transporter activity;IDA|GO:0015228;coenzyme A transmembrane transporter activity;IDA|GO:0015230;FAD transmembrane transporter activity;IDA|GO:0044610;FMN transmembrane transporter activity;IDA|GO:0051087;chaperone binding;IPI|GO:0051724;NAD transporter activity;IDA|GO:0080122;AMP transmembrane transporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A17 https://www.uniprot.org/uniprot/O43808 https://www.ncbi.nlm.nih.gov/omim/?term=606795 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A17&submit=Quick%0D%2500ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A17 rs113851841 0.682907 0 0 1 0 0 intronic intronic intronic SLC25A17 SLC25A17 ENSG00000100372 Na Na Na Na Na Na Het;+GTGGCATGGTT 206;3|6 Ref Hom;+GTGGCATGGTT 197;0|6 N N - 22 43180418 43180418 A C snp upstream GOLGA2P4 rs5758938 0.317292 0 0 1 0 0 intergenic intergenic upstream A4GALT(dist=63542),ARFGAP3(dist=12114) CS330190(dist=7528),DQ595055(dist=1778) ENSG00000229608 Na Na Na Na Na Na Het;A>C 46;3|3 Ref Hom;A>C 107;0|4 N N - 22 43370791 43370791 G A snp intronic PACSIN2 Pacsin2 ENSG00000100266 protein kinase C and casein kinase substrate in neurons 2 chr22:43231418-43411151 This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Tobacco Use Disorder; prostate cancer; Body Weight Mice homozygous for a null allele exhibit reduced running endurance, distance, and speed with impaired fetal cardiomyocyte electrophysiology. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0030036;actin cytoskeleton organization;TAS|GO:0030100;regulation of endocytosis;IBA|GO:0036010;protein localization to endosome;IMP|GO:0045806;negative regulation of endocytosis;IEA|GO:0048858;cell projection morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:0070836;caveola assembly;IMP|GO:0072584;caveolin-mediated endocytosis;IMP|GO:0097320;plasma membrane tubulation;IEA GO:0005737;cytoplasm;TAS|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;IDA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0019898;extrinsic component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055038;recycling endosome membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0070300;phosphatidic acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PACSIN2 https://www.uniprot.org/uniprot/Q9UNF0 https://www.ncbi.nlm.nih.gov/omim/?term=604960 http://www.informatics.jax.org/searchtool/Search.do?query=PACSIN2&submit=Quick%0D%2453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PACSIN2 rs738396 0.657149 0 0 1 0 0 intronic intronic intronic PACSIN2 PACSIN2 ENSG00000100266 Na Na Na Na Na Na Het;G>A 54;2|5 Ref Hom;G>A 109;0|5 N N - 22 44301263 44301263 C T snp upstream ENSG00000266837 rs6519816 0.321486 0 0 1 0 0 intergenic intergenic upstream PNPLA5(dist=13370),PNPLA3(dist=18356) PNPLA5(dist=13370),PNPLA3(dist=18356) ENSG00000266837 Na Na Na Na Na Na Het;C>T 165;8|10 Ref Hom;C>T 156;0|3 N N - 22 45398758 45398758 G A snp ncRNA_exonic AL079301.1 rs4823432 0.580671 0 0 1 0 0 intronic intronic ncRNA_exonic PHF21B PHF21B ENSG00000230922 Na Na Na Na Na Na Het;G>A 49;1|3 Ref Hom;G>A 110;0|5 N N - 22 45403587 45403612 CGCGGGGAAGGGGCGGGTGTGCGAGT C indel intronic PHF21B Phf21b ENSG00000056487 PHD finger protein 21B chr22:45277042-45405880 Cholesterol; Tobacco Use Disorder GO:0006355;regulation of transcription, DNA-templated;IBA GO:0005634;nucleus;IBA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF21B https://www.uniprot.org/uniprot/Q96EK2 https://www.ncbi.nlm.nih.gov/omim/?term=616727 http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B rs759236575 0 0 0 1 0 0 intronic intronic intronic PHF21B PHF21B ENSG00000056487 Na Na Na Na Na Na Het;-GCGGGGAAGGGGCGGGTGTGCGAGT 191;4|6 Ref Hom;-GCGGGGAAGGGGCGGGTGTGCGAGT 285;0|8 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 45480705 45480705 T C snp intergenic PHF21B Phf21b ENSG00000056487 PHD finger protein 21B chr22:45277042-45405880 Cholesterol; Tobacco Use Disorder GO:0006355;regulation of transcription, DNA-templated;IBA GO:0005634;nucleus;IBA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF21B https://www.uniprot.org/uniprot/Q96EK2 https://www.ncbi.nlm.nih.gov/omim/?term=616727 http://www.informatics.jax.org/searchtool/Search.do?query=PHF21B&submit=Quick%0D%1009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF21B rs5766403 0.474641 0 0 1 0 0 intergenic intergenic intergenic PHF21B(dist=74896),NUP50-AS1(dist=48934) PHF21B(dist=74896),LOC100506714(dist=48934) ENSG00000056487(dist=74825),ENSG00000226328(dist=48196) Na Na Na Na Na Na Het;T>C 85;4|5 Ref Hom;T>C 71;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 45723960 45723960 G A snp intronic FAM118A Fam118a ENSG00000100376 family with sequence similarity 118 member A chr22:45704849-45737836 Glucose; null GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM118A https://www.uniprot.org/uniprot/Q9NWS6 http://www.informatics.jax.org/searchtool/Search.do?query=FAM118A&submit=Quick%0D%2502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM118A rs9614638 0 0 0.2057 1 0 0 intronic intronic intronic FAM118A FAM118A ENSG00000100376 Na Na Na Na Na Na Het;G>A 326;10|10 Ref Hom;G>A 683;1|18 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 45757999 45757999 C T snp intronic SMC1B Smc1b ENSG00000077935 structural maintenance of chromosomes 1B chr22:45739944-45809500 SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008] Hemoglobin A, Glycosylated; Azoospermia|Oligospermia; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis. Meiotic synapsis GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;IEA|GO:0051276;chromosome organization;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005829;cytosol;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMC1B https://www.uniprot.org/uniprot/Q8NDV3 https://www.ncbi.nlm.nih.gov/omim/?term=608685 http://www.informatics.jax.org/searchtool/Search.do?query=SMC1B&submit=Quick%0D%1637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC1B rs2072717 0.297724 0 0 1 0 0 intronic intronic intronic SMC1B SMC1B ENSG00000077935 Na Na Na Na Na Na Het;C>T 211;2|7 Ref Hom;C>T 282;0|6 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 46930107 46930107 C T snp synonymous SNV G2961A V987V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CELSR1 Celsr1 ENSG00000075275 cadherin EGF LAG seven-pass G-type receptor 1 chr22:46756731-46933067 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] Stroke; schizophrenia; Lipids; Brain Ischemia|Stroke; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Nullizygous mice exhibit kinky tails, variable neural tube defects, abnormal hair follicle orientation, whorl-like hair patterns, and partial prenatal lethality. ENU-induced mutants show defects in planar polarity of inner ear hair cells and complete perinatal lethality due to craniorachischisis. GO:0001736;establishment of planar polarity;IEA|GO:0001764;neuron migration;IEA|GO:0001843;neural tube closure;IEA|GO:0001942;hair follicle development;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007266;Rho protein signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;NAS|GO:0007626;locomotory behavior;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0042060;wound healing;IEA|GO:0042249;establishment of planar polarity of embryonic epithelium;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0045176;apical protein localization;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0060488;orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis;IEA|GO:0060489;planar dichotomous subdivision of terminal units involved in lung branching morphogenesis;IEA|GO:0060490;lateral sprouting involved in lung morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090251;protein localization involved in establishment of planar polarity;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046983;protein dimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/CELSR1 https://www.uniprot.org/uniprot/Q9NYQ6 https://www.ncbi.nlm.nih.gov/omim/?term=604523 http://www.informatics.jax.org/searchtool/Search.do?query=CELSR1&submit=Quick%0D%1536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR1 rs8141744 0.176118 0.2426 0.2011 1 0 0 exonic exonic exonic CELSR1 CELSR1 ENSG00000075275 synonymous SNV synonymous SNV unknown CELSR1:NM_014246:exon1:c.G2961A:p.V987V, CELSR1:uc003bhw.1:exon1:c.G2961A:p.V987V, UNKNOWN Het;C>T 1411;76|61 Het;C>T 1454;53|62 Hom;C>T 3636;0|132 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47057197 47057197 C T snp intronic GRAMD4 Gramd4 ENSG00000075240 GRAM domain containing 4 chr22:46971909-47075688 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Tobacco Use Disorder GO:0006915;apoptotic process;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRAMD4 https://www.uniprot.org/uniprot/Q6IC98 https://www.ncbi.nlm.nih.gov/omim/?term=613691 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD4&submit=Quick%0D%1535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD4 rs2076708 0.320687 0 0 1 0 0 intronic intronic intronic GRAMD4 GRAMD4 ENSG00000075240 Na Na Na Na Na Na Het;C>T 297;14|13 Het;C>T 72;5|3 Hom;C>T 664;0|17 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47059229 47059229 C T snp intronic GRAMD4 Gramd4 ENSG00000075240 GRAM domain containing 4 chr22:46971909-47075688 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Tobacco Use Disorder GO:0006915;apoptotic process;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRAMD4 https://www.uniprot.org/uniprot/Q6IC98 https://www.ncbi.nlm.nih.gov/omim/?term=613691 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD4&submit=Quick%0D%1535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD4 rs150903025 0.00499201 0 0 1 0 0 intronic intronic intronic GRAMD4 GRAMD4 ENSG00000075240 Na Na Na Na Na Na Het;C>T 33;2|2 Het;C>T 197;5|7 Hom;C>T 205;0|6 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47064837 47064837 A C snp intronic GRAMD4 Gramd4 ENSG00000075240 GRAM domain containing 4 chr22:46971909-47075688 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Tobacco Use Disorder GO:0006915;apoptotic process;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRAMD4 https://www.uniprot.org/uniprot/Q6IC98 https://www.ncbi.nlm.nih.gov/omim/?term=613691 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD4&submit=Quick%0D%1535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD4 rs2076711 0.231829 0.2170 0.2736 1 0 0 intronic intronic intronic GRAMD4 GRAMD4 ENSG00000075240 Na Na Na Na Na Na Het;A>C 394;25|17 Het;A>C 313;21|14 Hom;A>C 978;0|34 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47070432 47070432 G C snp intronic GRAMD4 Gramd4 ENSG00000075240 GRAM domain containing 4 chr22:46971909-47075688 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Tobacco Use Disorder GO:0006915;apoptotic process;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRAMD4 https://www.uniprot.org/uniprot/Q6IC98 https://www.ncbi.nlm.nih.gov/omim/?term=613691 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD4&submit=Quick%0D%1535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD4 rs2073275 0.230831 0 0 1 0 0 intronic intronic intronic GRAMD4 GRAMD4 ENSG00000075240 Na Na Na Na Na Na Het;G>C 521;13|15 Het;G>C 655;11|20 Hom;G>C 1271;0|32 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47072477 47072477 G A snp intronic GRAMD4 Gramd4 ENSG00000075240 GRAM domain containing 4 chr22:46971909-47075688 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Tobacco Use Disorder GO:0006915;apoptotic process;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRAMD4 https://www.uniprot.org/uniprot/Q6IC98 https://www.ncbi.nlm.nih.gov/omim/?term=613691 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD4&submit=Quick%0D%1535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD4 rs2236028 0.348043 0.2925 0.3845 1 0 0 intronic intronic intronic GRAMD4 GRAMD4 ENSG00000075240 Na Na Na Na Na Na Het;G>A 842;32|40 Het;G>A 421;29|22 Hom;G>A 1508;2|58 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47085166 47085166 G A snp intronic CERK Cerk ENSG00000100422 ceramide kinase chr22:47080308-47134158 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. Glycosphingolipid metabolism GO:0006672;ceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046834;lipid phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001729;ceramide kinase activity;TAS|GO:0003951;NAD+ kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CERK https://www.uniprot.org/uniprot/Q8TCT0 https://www.ncbi.nlm.nih.gov/omim/?term=610307 http://www.informatics.jax.org/searchtool/Search.do?query=CERK&submit=Quick%0D%2518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERK rs135669 0.188498 0 0 1 0 0 intronic intronic intronic CERK CERK ENSG00000100422 Na Na Na Na Na Na Het;G>A 163;4|7 Ref Hom;G>A 71;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47091321 47091321 C T snp intronic CERK Cerk ENSG00000100422 ceramide kinase chr22:47080308-47134158 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. Glycosphingolipid metabolism GO:0006672;ceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046834;lipid phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001729;ceramide kinase activity;TAS|GO:0003951;NAD+ kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CERK https://www.uniprot.org/uniprot/Q8TCT0 https://www.ncbi.nlm.nih.gov/omim/?term=610307 http://www.informatics.jax.org/searchtool/Search.do?query=CERK&submit=Quick%0D%2518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERK rs135676 0.203075 0 0 1 0 0 intronic intronic intronic CERK CERK ENSG00000100422 Na Na Na Na Na Na Het;C>T 460;20|20 Het;C>T 179;22|10 Hom;C>T 819;0|28 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47097450 47097450 C T snp intronic CERK Cerk ENSG00000100422 ceramide kinase chr22:47080308-47134158 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. Glycosphingolipid metabolism GO:0006672;ceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046834;lipid phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001729;ceramide kinase activity;TAS|GO:0003951;NAD+ kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CERK https://www.uniprot.org/uniprot/Q8TCT0 https://www.ncbi.nlm.nih.gov/omim/?term=610307 http://www.informatics.jax.org/searchtool/Search.do?query=CERK&submit=Quick%0D%2518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERK rs135688 0.255791 0 0 1 0 0 intronic intronic intronic CERK CERK ENSG00000100422 Na Na Na Na Na Na Het;C>T 217;18|9 Het;C>T 393;22|16 Hom;C>T 1123;0|38 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47115825 47115825 A C snp intronic CERK Cerk ENSG00000100422 ceramide kinase chr22:47080308-47134158 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. Glycosphingolipid metabolism GO:0006672;ceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046834;lipid phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001729;ceramide kinase activity;TAS|GO:0003951;NAD+ kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CERK https://www.uniprot.org/uniprot/Q8TCT0 https://www.ncbi.nlm.nih.gov/omim/?term=610307 http://www.informatics.jax.org/searchtool/Search.do?query=CERK&submit=Quick%0D%2518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERK rs9627540 0.150958 0 0 1 0 0 intronic intronic intronic CERK CERK ENSG00000100422 Na Na Na Na Na Na Het;A>C 84;2|3 Ref Hom;A>C 141;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47116905 47116905 G A snp synonymous SNV C150T C50C polar,hydrophobic,neutral polar,hydrophobic,neutral CERK Cerk ENSG00000100422 ceramide kinase chr22:47080308-47134158 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. Glycosphingolipid metabolism GO:0006672;ceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046834;lipid phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001729;ceramide kinase activity;TAS|GO:0003951;NAD+ kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CERK https://www.uniprot.org/uniprot/Q8TCT0 https://www.ncbi.nlm.nih.gov/omim/?term=610307 http://www.informatics.jax.org/searchtool/Search.do?query=CERK&submit=Quick%0D%2518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERK rs12166204 0.0898562 0.1259 0.0902 1 0 0 exonic exonic exonic CERK CERK ENSG00000100422 synonymous SNV synonymous SNV unknown CERK:NM_022766:exon2:c.C150T:p.C50C, CERK:uc003bia.3:exon2:c.C150T:p.C50C, UNKNOWN Het;G>A 951;66|48 Het;G>A 1514;77|71 Hom;G>A 3585;0|130 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47164119 47164119 C T snp intronic TBC1D22A Tbc1d22a ENSG00000054611 TBC1 domain family member 22A chr22:47158518-47571336 Waist-Hip Ratio; Body Weight; Myocardial Infarction; Breath Tests; Resistin; Body Mass Index; Waist Circumference; Cholesterol; Stroke; Thyrotropin; Longevity; Erythrocyte Count; Parkinson Disease; Albumins; Heart Failure; Cardiomegaly; Tobacco Use Disorder; Heart Rate; Arteries; Leukocyte Count; Metabolism; Attention Deficit Disorder with Hyperactivity; Blood Pressure; Fibrinogen GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0042803;protein homodimerization activity;IDA|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D22A https://www.uniprot.org/uniprot/Q8WUA7 https://www.ncbi.nlm.nih.gov/omim/?term=616879 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D22A&submit=Quick%0D%978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D22A rs801633 0.0323482 0 0 1 0 0 intronic intronic intronic TBC1D22A TBC1D22A ENSG00000054611 Na Na Na Na Na Na Het;C>T 553;13|22 Het;C>T 192;19|10 Hom;C>T 766;0|27 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47310582 47310582 G T snp ncRNA_exonic TBC1D22A-AS1 Na 0 0 0 1 0 0 ncRNA_exonic UTR3 intronic TBC1D22A-AS1 FLJ32756(uc003big.3:c.*659C>A) ENSG00000054611 Na Na Na Na Na Na Het;G>T 2109;91|89 Het;G>T 1887;67|78 Hom;G>T 5144;0|176 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47620898 47620898 G A snp intergenic TBC1D22A Tbc1d22a ENSG00000054611 TBC1 domain family member 22A chr22:47158518-47571336 Waist-Hip Ratio; Body Weight; Myocardial Infarction; Breath Tests; Resistin; Body Mass Index; Waist Circumference; Cholesterol; Stroke; Thyrotropin; Longevity; Erythrocyte Count; Parkinson Disease; Albumins; Heart Failure; Cardiomegaly; Tobacco Use Disorder; Heart Rate; Arteries; Leukocyte Count; Metabolism; Attention Deficit Disorder with Hyperactivity; Blood Pressure; Fibrinogen GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0042803;protein homodimerization activity;IDA|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D22A https://www.uniprot.org/uniprot/Q8WUA7 https://www.ncbi.nlm.nih.gov/omim/?term=616879 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D22A&submit=Quick%0D%978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D22A rs73172505 0.356829 0 0 1 0 0 intergenic intergenic intergenic TBC1D22A(dist=49556),LL22NC03-75H12.2(dist=236150) TBC1D22A(dist=49556),BC037972(dist=236150) ENSG00000054611(dist=49562),ENSG00000224715(dist=120421) Na Na Na Na Na Na Het;G>A 42;3|3 Ref Hom;G>A 49;0|3 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47620975 47620975 T C snp intergenic TBC1D22A Tbc1d22a ENSG00000054611 TBC1 domain family member 22A chr22:47158518-47571336 Waist-Hip Ratio; Body Weight; Myocardial Infarction; Breath Tests; Resistin; Body Mass Index; Waist Circumference; Cholesterol; Stroke; Thyrotropin; Longevity; Erythrocyte Count; Parkinson Disease; Albumins; Heart Failure; Cardiomegaly; Tobacco Use Disorder; Heart Rate; Arteries; Leukocyte Count; Metabolism; Attention Deficit Disorder with Hyperactivity; Blood Pressure; Fibrinogen GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0042803;protein homodimerization activity;IDA|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D22A https://www.uniprot.org/uniprot/Q8WUA7 https://www.ncbi.nlm.nih.gov/omim/?term=616879 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D22A&submit=Quick%0D%978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D22A rs5766729 0.357827 0 0 1 0 0 intergenic intergenic intergenic TBC1D22A(dist=49633),LL22NC03-75H12.2(dist=236073) TBC1D22A(dist=49633),BC037972(dist=236073) ENSG00000054611(dist=49639),ENSG00000224715(dist=120344) Na Na Na Na Na Na Het;T>C 343;14|10 Het;T>C 405;6|11 Hom;T>C 821;0|18 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47620994 47620994 C T snp intergenic TBC1D22A Tbc1d22a ENSG00000054611 TBC1 domain family member 22A chr22:47158518-47571336 Waist-Hip Ratio; Body Weight; Myocardial Infarction; Breath Tests; Resistin; Body Mass Index; Waist Circumference; Cholesterol; Stroke; Thyrotropin; Longevity; Erythrocyte Count; Parkinson Disease; Albumins; Heart Failure; Cardiomegaly; Tobacco Use Disorder; Heart Rate; Arteries; Leukocyte Count; Metabolism; Attention Deficit Disorder with Hyperactivity; Blood Pressure; Fibrinogen GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0042803;protein homodimerization activity;IDA|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D22A https://www.uniprot.org/uniprot/Q8WUA7 https://www.ncbi.nlm.nih.gov/omim/?term=616879 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D22A&submit=Quick%0D%978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D22A rs5767602 0.29992 0 0 1 0 0 intergenic intergenic intergenic TBC1D22A(dist=49652),LL22NC03-75H12.2(dist=236054) TBC1D22A(dist=49652),BC037972(dist=236054) ENSG00000054611(dist=49658),ENSG00000224715(dist=120325) Na Na Na Na Na Na Het;C>T 303;13|9 Het;C>T 492;6|15 Hom;C>T 1088;0|30 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47766596 47766596 G A snp ncRNA_exonic Z82186.1 rs131854 0.380391 0 0 1 0 0 intergenic intergenic ncRNA_exonic TBC1D22A(dist=195254),LL22NC03-75H12.2(dist=90452) TBC1D22A(dist=195254),BC037972(dist=90452) ENSG00000224715 Na Na Na Na Na Na Het;G>A 1706;114|73 Het;G>A 2188;80|92 Hom;G>A 4462;0|154 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 47766657 47766657 C T snp ncRNA_exonic Z82186.1 rs131855 0.374002 0 0 1 0 0 intergenic intergenic ncRNA_exonic TBC1D22A(dist=195315),LL22NC03-75H12.2(dist=90391) TBC1D22A(dist=195315),BC037972(dist=90391) ENSG00000224715 Na Na Na Na Na Na Het;C>T 2111;129|90 Het;C>T 2072;110|93 Hom;C>T 5085;0|185 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 48027816 48027816 C T snp ncRNA_intronic AK093107 rs143031880 0.00599042 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC284930 AK093107,BC039485 ENSG00000224271 Na Na Na Na Na Na Het;C>T 226;3|8 Ref Hom;C>T 148;0|5 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 48551345 48551346 AG A indel intergenic LOC284930 rs131143 0.408946 0 0 1 0 0 intergenic intergenic intergenic LOC284930(dist=299996),MIR3201(dist=118830) AK093107(dist=299996),MIR3201(dist=118830) ENSG00000229275(dist=12299),ENSG00000266508(dist=118830) Na Na Na Na Na Na Het;-G 220;10|10 Het;-G 416;2|16 Hom;-G 437;0|15 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 49091564 49091564 C A snp intronic FAM19A5 Fam19a5 ENSG00000219438 family with sequence similarity 19 member A5, C-C motif chemokine like chr22:48885272-49246724 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013] Amyotrophic Lateral Sclerosis; Body Height; Hematocrit; Blood Pressure Determination; Tunica Media; Cholesterol; Hemoglobins; Tobacco Use Disorder; Pancreatic Neoplasms; Lipids; Myocardial Infarction; Hemoglobin A, Glycosylated GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM19A5 https://www.ncbi.nlm.nih.gov/omim/?term=617499 http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A5&submit=Quick%0D%18386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A5 rs910574 0.0688898 0 0 1 0 0 intronic intronic intronic FAM19A5 FAM19A5 ENSG00000219438 Na Na Na Na Na Na Het;C>A 68;2|4 Ref Hom;C>A 148;0|6 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 49344401 49344401 A G snp intergenic LINC01310 rs72619586 0.277356 0 0 1 0 0 intergenic intergenic intergenic LINC01310(dist=50203),NONE(dist=NONE) LOC100128946(dist=50203),BC033837(dist=463773) ENSG00000205632(dist=50203),ENSG00000226142(dist=265436) Na Na Na Na Na Na Het;A>G 152;4|6 Ref Hom;A>G 131;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 49834931 49834931 G C snp ncRNA_intronic BC033837 rs9306540 0.0720847 0 0 1 0 0 intergenic ncRNA_intronic intronic NONE(dist=NONE),NONE(dist=NONE) BC033837 ENSG00000188511 Na Na Na Na Na Na Het;G>C 724;36|27 Het;G>C 807;40|31 Hom;G>C 1581;0|53 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50360740 50360740 T G snp intergenic PIM3 Pim3 ENSG00000198355 Pim-3 proto-oncogene, serine/threonine kinase chr22:50354161-50357728 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012] Homozygous null mice are healthy and fertile and do not display any gross abnormalities. GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0016310;phosphorylation;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046777;protein autophosphorylation;IBA|GO:0061179;negative regulation of insulin secretion involved in cellular response to glucose stimulus;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIM3 https://www.ncbi.nlm.nih.gov/omim/?term=610580 http://www.informatics.jax.org/searchtool/Search.do?query=PIM3&submit=Quick%0D%16876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIM3 rs35042741 0.78774 0 0 1 0 0 intergenic intergenic intergenic PIM3(dist=3020),IL17REL(dist=72202) PIM3(dist=3020),IL17REL(dist=72202) ENSG00000198355(dist=3012),ENSG00000188263(dist=72202) Na Na Na Na Na Na Het;T>G 43;3|2 Ref Hom;T>G 114;0|5 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50582575 50582575 A G snp nonsynonymous SNV A2408G N803S polar,hydrophilic,neutral polar,hydrophilic,neutral MOV10L1 Mov10l1 ENSG00000073146 Mov10 RISC complex RNA helicase like 1 chr22:50528308-50600119 This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Tobacco Use Disorder Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells. PIWI-interacting RNA (piRNA) biogenesis GO:0007141;male meiosis I;ISS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEP|GO:0007283;spermatogenesis;IEP|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0007141;male meiosis I;ISS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEP|GO:0007283;spermatogenesis;IEP|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS GO:0005622;intracellular;IC|GO:0005737;cytoplasm;IEA|GO:0043186;P granule;ISS|GO:0071546;pi-body;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;TAS|GO:0003723;RNA binding;TAS|GO:0004004;ATP-dependent RNA helicase activity;ISS|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MOV10L1 https://www.uniprot.org/uniprot/Q9BXT6 https://www.ncbi.nlm.nih.gov/omim/?term=605794 http://www.informatics.jax.org/searchtool/Search.do?query=MOV10L1&submit=Quick%0D%26ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MOV10L1 rs143335661 0 7.7e-05 7.414e-05 0.92 12 13 exonic exonic exonic MOV10L1 MOV10L1 ENSG00000073146 nonsynonymous SNV nonsynonymous SNV unknown MOV10L1:NM_018995:exon18:c.A2408G:p.N803S,MOV10L1:NM_001164104:exon18:c.A2408G:p.N803S,MOV10L1:NM_001164105:exon18:c.A2348G:p.N783S, MOV10L1:uc003bjj.3:exon18:c.A2408G:p.N803S,MOV10L1:uc003bjk.4:exon18:c.A2408G:p.N803S,MOV10L1:uc011arp.2:exon18:c.A2348G:p.N783S, UNKNOWN Het;A>G 1297;64|60 Het;A>G 1279;67|58 Hom;A>G 2620;0|93 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50635627 50635627 C T snp intronic TRABD Trabd ENSG00000170638 TraB domain containing chr22:50624344-50638027 http://www.genecards.org/index.php?path=/Search/keyword/TRABD http://www.informatics.jax.org/searchtool/Search.do?query=TRABD&submit=Quick%0D%12755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRABD rs5771095 0.382188 0.4110 0.3798 1 0 0 intronic intronic intronic TRABD TRABD ENSG00000170638 Na Na Na Na Na Na Het;C>T 465;26|20 Het;C>T 448;17|17 Hom;C>T 987;0|33 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50646936 50646936 G C snp nonsynonymous SNV G163C A55P aliphatic,hydrophobic,neutral hydrophobic,neutral SELO Selo rs5771102 0.701877 0.6697 0.6200 1 0 0 intronic exonic ncRNA_exonic SELO SELO ENSG00000273137 Na nonsynonymous SNV Na Na SELO:uc010hap.3:exon2:c.G163C:p.A55P, Na Het;G>C 436;21|19 Het;G>C 730;17|33 Hom;G>C 1102;0|35 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50654428 50654428 T G snp intronic SELO Selo rs2294402 0.482428 0 0 1 0 0 intronic intronic intronic SELO SELO ENSG00000073169 Na Na Na Na Na Na Het;T>G 199;5|8 Het;T>G 87;2|4 Hom;T>G 124;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50655098 50655098 A G snp intronic SELO Selo rs2272851 0.711661 0.6915 0.6627 1 0 0 intronic intronic intronic SELO SELO ENSG00000073169 Na Na Na Na Na Na Het;A>G 1101;36|43 Het;A>G 444;21|20 Hom;A>G 1556;0|57 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50657982 50657982 C T snp intronic TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs144625530 0.00958466 0 0 1 0 0 intronic intronic intronic TUBGCP6 TUBGCP6 ENSG00000128159 Na Na Na Na Na Na Het;C>T 666;31|25 Het;C>T 607;27|24 Hom;C>T 1145;0|35 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50658274 50658274 C G snp intronic TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs2272854 0.393371 0 0 1 0 0 intronic intronic intronic TUBGCP6 TUBGCP6 ENSG00000128159 Na Na Na Na Na Na Het;C>G 1058;38|39 Het;C>G 535;18|23 Hom;C>G 1374;0|43 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50658424 50658424 T C snp nonsynonymous SNV A4105G T1369A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs11703226 0.427117 0.4577 0.4319 0.08 1 13 exonic exonic exonic TUBGCP6 TUBGCP6 ENSG00000128159 nonsynonymous SNV nonsynonymous SNV unknown TUBGCP6:NM_020461:exon17:c.A4129G:p.T1377A, TUBGCP6:uc010har.1:exon17:c.A4105G:p.T1369A,TUBGCP6:uc003bka.1:exon2:c.A1390G:p.T464A,TUBGCP6:uc003bkb.1:exon17:c.A4129G:p.T1377A, UNKNOWN Het;T>C 904;65|44 Het;T>C 937;32|41 Hom;T>C 2088;3|82 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50658570 50658570 A G snp intronic TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs17248273 0.408147 0 0 1 0 0 intronic intronic intronic TUBGCP6 TUBGCP6 ENSG00000128159 Na Na Na Na Na Na Het;A>G 204;11|7 Het;A>G 333;6|11 Hom;A>G 363;0|10 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50659275 50659275 C T snp synonymous SNV G3513A L1171L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs61745994 0.00978435 0.0211 0.0190 1 0 0 exonic exonic exonic TUBGCP6 TUBGCP6 ENSG00000128159 synonymous SNV synonymous SNV unknown TUBGCP6:NM_020461:exon16:c.G3513A:p.L1171L, TUBGCP6:uc010har.1:exon16:c.G3489A:p.L1163L,TUBGCP6:uc003bka.1:exon1:c.G774A:p.L258L,TUBGCP6:uc003bkb.1:exon16:c.G3513A:p.L1171L, UNKNOWN Het;C>T 2037;105|83 Het;C>T 1729;63|81 Hom;C>T 4252;2|155 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50659380 50659380 G A snp synonymous SNV C3408T H1136H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs17013247 0.00938498 0.0213 0.0197 1 0 0 exonic exonic exonic TUBGCP6 TUBGCP6 ENSG00000128159 synonymous SNV synonymous SNV unknown TUBGCP6:NM_020461:exon16:c.C3408T:p.H1136H, TUBGCP6:uc010har.1:exon16:c.C3384T:p.H1128H,TUBGCP6:uc003bka.1:exon1:c.C669T:p.H223H,TUBGCP6:uc003bkb.1:exon16:c.C3408T:p.H1136H, UNKNOWN Het;G>A 2289;108|104 Het;G>A 1777;125|90 Hom;G>A 6209;0|244 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50665776 50665776 G A snp intronic TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs730937 0.0802716 0 0 1 0 0 intronic intronic intronic TUBGCP6 TUBGCP6 ENSG00000128159 Na Na Na Na Na Na Het;G>A 67;5|3 Ref Hom;G>A 84;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50678571 50678571 T C snp UTR3 *13A>G TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs5771109 0.384185 0 0.4332 1 0 0 intronic UTR3 intronic TUBGCP6 TUBGCP6(uc010hau.1:c.*13A>G) ENSG00000128159 Na Na Na Na Na Na Het;T>C 948;25|38 Het;T>C 751;36|31 Hom;T>C 1459;0|52 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50682865 50682865 G A snp synonymous SNV C24T F8F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs5771270 0.28155 0.3046 0.3600 1 0 0 exonic exonic exonic TUBGCP6 TUBGCP6 ENSG00000128159 synonymous SNV synonymous SNV unknown TUBGCP6:NM_020461:exon1:c.C24T:p.F8F, TUBGCP6:uc010hau.1:exon1:c.C24T:p.F8F,TUBGCP6:uc010har.1:exon1:c.C24T:p.F8F,TUBGCP6:uc003bkb.1:exon1:c.C24T:p.F8F, UNKNOWN Het;G>A 2135;77|92 Het;G>A 1352;68|67 Hom;G>A 4597;0|167 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50683032 50683032 A AT indel UTR5 -144T>AT TUBGCP6 Tubgcp6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 rs3841005 0 0 0 1 0 0 UTR5 UTR5 UTR5 TUBGCP6(NM_020461:c.-144T>AT) TUBGCP6(uc003bkb.1:c.-144T>AT,uc010har.1:c.-144T>AT,uc010hau.1:c.-144T>AT) ENSG00000128159(ENST00000439308:c.-144T>AT) Na Na Na Na Na Na Het;+T 53;5|4 Het;+T 39;1|3 Hom;+T 242;0|10 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50684312 50684312 G A snp UTR3 *434C>T HDAC10 Hdac10 ENSG00000100429 histone deacetylase 10 chr22:50683612-50689834 The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Schizophrenia HDACs deacetylate histones GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006325;chromatin organization;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006476;protein deacetylation;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0070932;histone H3 deacetylation;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDAC10 https://www.uniprot.org/uniprot/Q969S8 https://www.ncbi.nlm.nih.gov/omim/?term=608544 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC10&submit=Quick%0D%2522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC10 rs5771271 0.127196 0.0810 0.1485 1 0 0 intronic intronic UTR3 HDAC10 HDAC10 ENSG00000100429(ENST00000454936:c.*434C>T) Na Na Na Na Na Na Het;G>A 2081;106|96 Het;G>A 1687;74|78 Hom;G>A 4331;0|157 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50696662 50696662 C T snp intronic MAPK12 Mapk12 ENSG00000188130 mitogen-activated protein kinase 12 chr22:50683879-50700254 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygous null mice are viable and fertile with no obvious abnormalities. Mice homozygous for a conditional allele activated in muscle cell exhibit decreased endurance exercise-induced mitochondrial biogenesis and angiogenesis. VEGFA-VEGFR2 Pathway GO:0000165;MAPK cascade;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006975;DNA damage induced protein phosphorylation;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0007517;muscle organ development;TAS|GO:0010468;regulation of gene expression;IBA|GO:0010952;positive regulation of peptidase activity;NAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0035556;intracellular signal transduction;IBA|GO:0045445;myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0051149;positive regulation of muscle cell differentiation;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004707;MAP kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK12 https://www.ncbi.nlm.nih.gov/omim/?term=602399 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK12&submit=Quick%0D%15971ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK12 rs73187284 0.279752 0.2755 0.3248 1 0 0 intronic intronic intronic MAPK12 MAPK12 ENSG00000188130 Na Na Na Na Na Na Het;C>T 1302;62|60 Het;C>T 1639;64|75 Hom;C>T 2753;0|99 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50710349 50710349 G A snp intergenic MAPK11 Mapk11 ENSG00000185386 mitogen-activated protein kinase 11 chr22:50702142-50709196 This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Type 2 Diabetes| edema | rosiglitazone; HIV Mice homozygous for a knock-out allele exhibit a normal phenotype. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006950;response to stress;IDA|GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060043;regulation of cardiac muscle cell proliferation;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0098586;cellular response to virus;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:2001184;positive regulation of interleukin-12 secretion;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004707;MAP kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK11 https://www.ncbi.nlm.nih.gov/omim/?term=602898 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK11&submit=Quick%0D%15409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK11 rs2235356 0.420727 0 0 1 0 0 intergenic intergenic intergenic MAPK11(dist=1527),PLXNB2(dist=3059) MAPK11(dist=1009),PLXNB2(dist=3059) ENSG00000185386(dist=1527),ENSG00000196576(dist=3059) Na Na Na Na Na Na Het;G>A 36;3|2 Ref Hom;G>A 123;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50715973 50715973 G T snp intronic PLXNB2 Plxnb2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 rs28637964 0.442093 0.4422 0.4877 1 0 0 intronic intronic intronic PLXNB2 PLXNB2 ENSG00000196576 Na Na Na Na Na Na Het;G>T 573;31|26 Het;G>T 485;34|24 Hom;G>T 1618;0|60 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50720904 50720904 G C snp UTR5 -220C>G PLXNB2 Plxnb2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 rs35278490 0.0796725 0 0 1 0 0 intronic UTR5 intronic PLXNB2 PLXNB2(uc003bku.1:c.-220C>G) ENSG00000196576 Na Na Na Na Na Na Het;G>C 298;11|10 Het;G>C 117;3|4 Hom;G>C 268;0|7 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50722167 50722167 T C snp nonsynonymous SNV A2434G T812A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PLXNB2 Plxnb2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 rs28470336 0.01877 0.0401 0.0396 0.23 3 13 exonic exonic exonic PLXNB2 PLXNB2 ENSG00000196576 nonsynonymous SNV nonsynonymous SNV unknown PLXNB2:NM_012401:exon15:c.A2434G:p.T812A, PLXNB2:uc003bkv.4:exon15:c.A2434G:p.T812A, UNKNOWN Het;T>C 2598;140|119 Het;T>C 2788;115|124 Hom;T>C 5229;1|190 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50725553 50725553 T C snp synonymous SNV A1749G T583T polar,hydrophilic,neutral polar,hydrophilic,neutral PLXNB2 Plxnb2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 rs28513473 0.148562 0.0925 0.1446 1 0 0 exonic exonic exonic PLXNB2 PLXNB2 ENSG00000196576 synonymous SNV synonymous SNV unknown PLXNB2:NM_012401:exon8:c.A1749G:p.T583T, PLXNB2:uc003bkv.4:exon8:c.A1749G:p.T583T, UNKNOWN Het;T>C 1830;81|83 Het;T>C 1069;69|50 Hom;T>C 3181;0|118 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50727921 50727921 T C snp intronic PLXNB2 Plxnb2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 rs28578714 0.391573 0.3835 0.4395 1 0 0 intronic intronic intronic PLXNB2 PLXNB2 ENSG00000196576 Na Na Na Na Na Na Het;T>C 612;42|29 Het;T>C 205;27|12 Hom;T>C 1814;0|61 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50728062 50728062 T C snp nonsynonymous SNV A952G K318E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) PLXNB2 Plxnb2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 rs28379706 0.454073 0.4520 0.3817 0.08 1 13 exonic exonic exonic PLXNB2 PLXNB2 ENSG00000196576 nonsynonymous SNV nonsynonymous SNV unknown PLXNB2:NM_012401:exon3:c.A952G:p.K318E, PLXNB2:uc003bkv.4:exon3:c.A952G:p.K318E, UNKNOWN Het;T>C 2079;107|95 Het;T>C 1723;81|81 Hom;T>C 3854;0|142 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50757348 50757348 G A snp intronic DENND6B Dennd6b ENSG00000205593 DENN domain containing 6B chr22:50747459-50765489 RAB GEFs exchange GTP for GDP on RABs GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0055037;recycling endosome;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND6B http://www.informatics.jax.org/searchtool/Search.do?query=DENND6B&submit=Quick%0D%17536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND6B rs62241232 0.454872 0.5009 0.5438 1 0 0 intronic intronic intronic DENND6B DENND6B ENSG00000205593 Na Na Na Na Na Na Het;G>A 824;50|37 Het;G>A 737;45|38 Hom;G>A 2306;0|87 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50874893 50874893 C T snp intronic PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs13054572 0.212061 0.2514 0.3048 1 0 0 intronic intronic intronic PPP6R2 PPP6R2 ENSG00000100239 Na Na Na Na Na Na Het;C>T 1033;66|50 Het;C>T 1818;83|88 Hom;C>T 3272;4|127 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50875745 50875745 A T snp intronic PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs12167996 0.209665 0 0 1 0 0 intronic intronic intronic PPP6R2 PPP6R2 ENSG00000100239 Na Na Na Na Na Na Het;A>T 34;2|2 Ref Hom;A>T 160;0|5 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50876235 50876235 T C snp intronic PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs5770779 0.730631 0.7098 0.6867 1 0 0 intronic intronic intronic PPP6R2 PPP6R2 ENSG00000100239 Na Na Na Na Na Na Het;T>C 689;23|30 Het;T>C 434;25|21 Hom;T>C 887;1|34 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50876357 50876357 C G snp intronic PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs5770890 0.619808 0.5579 0.6409 1 0 0 intronic intronic intronic PPP6R2 PPP6R2 ENSG00000100239 Na Na Na Na Na Na Het;C>G 1201;36|56 Het;C>G 912;39|44 Hom;C>G 2075;0|79 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50877166 50877166 G C snp synonymous SNV G2022C A674A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs4824131 0.669129 0.5908 0.6821 1 0 0 exonic exonic exonic PPP6R2 PPP6R2 ENSG00000100239 synonymous SNV synonymous SNV unknown PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A, PPP6R2:uc003blc.3:exon19:c.G2103C:p.A701A,PPP6R2:uc003blb.2:exon20:c.G2103C:p.A701A,PPP6R2:uc003bkz.2:exon18:c.G2022C:p.A674A,PPP6R2:uc003bld.2:exon8:c.G699C:p.A233A,PPP6R2:uc003bky.2:exon18:c.G2022C:p.A674A,PPP6R2:uc003bla.2:exon18:c.G2025C:p.A675A, UNKNOWN Het;G>C 981;49|48 Het;G>C 1096;58|52 Hom;G>C 2917;0|109 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50878196 50878196 G A snp nonsynonymous SNV G2195A R732K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs13057311 0.19369 0.2304 0.2447 0.15 2 13 exonic exonic exonic PPP6R2 PPP6R2 ENSG00000100239 nonsynonymous SNV nonsynonymous SNV unknown PPP6R2:NM_001242900:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242898:exon20:c.G2195A:p.R732K,PPP6R2:NM_014678:exon19:c.G2114A:p.R705K,PPP6R2:NM_001242899:exon19:c.G2117A:p.R706K, PPP6R2:uc003blc.3:exon20:c.G2195A:p.R732K,PPP6R2:uc003blb.2:exon21:c.G2195A:p.R732K,PPP6R2:uc003bkz.2:exon19:c.G2114A:p.R705K,PPP6R2:uc003bld.2:exon9:c.G794A:p.R265K,PPP6R2:uc003bky.2:exon19:c.G2117A:p.R706K,PPP6R2:uc003bla.2:exon19:c.G2117A:p.R706K, UNKNOWN Het;G>A 1658;77|72 Het;G>A 1623;52|75 Hom;G>A 3382;0|124 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50882590 50882590 G A snp intronic PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs6010031 0.190495 0.2316 0.2449 1 0 0 intronic intronic intronic PPP6R2 PPP6R2 ENSG00000100239 Na Na Na Na Na Na Het;G>A 2324;70|102 Het;G>A 1687;63|77 Hom;G>A 3966;0|148 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50885775 50885775 A G snp synonymous SNV T5559C T1853T polar,hydrophilic,neutral polar,hydrophilic,neutral SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs1053744 0.500998 0.5233 0.5176 1 0 0 exonic exonic exonic SBF1 SBF1 ENSG00000100241 synonymous SNV synonymous SNV unknown SBF1:NM_002972:exon40:c.T5559C:p.T1853T, SBF1:uc003ble.3:exon8:c.T951C:p.T317T,SBF1:uc003blh.3:exon40:c.T5559C:p.T1853T,SBF1:uc011arx.2:exon33:c.T4473C:p.T1491T, UNKNOWN Het;A>G 2382;126|112 Het;A>G 1982;121|100 Hom;A>G 5757;0|208 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50898619 50898619 G A snp intronic SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs2073278 0.365016 0.2968 0.3602 1 0 0 intronic intronic intronic SBF1 SBF1 ENSG00000100241 Na Na Na Na Na Na Het;G>A 2004;78|78 Het;G>A 1818;56|68 Hom;G>A 3915;2|137 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50899758 50899758 G C snp intronic SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs2073280 0.278155 0 0.4462 1 0 0 intronic intronic intronic SBF1 SBF1 ENSG00000100241 Na Na Na Na Na Na Het;G>C 1222;40|59 Het;G>C 1039;39|48 Hom;G>C 2186;3|89 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50901259 50901259 G T snp intronic SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs9617014 0.276358 0.4477 0.3852 1 0 0 intronic intronic intronic SBF1 SBF1 ENSG00000100241 Na Na Na Na Na Na Het;G>T 1719;43|70 Het;G>T 1026;41|48 Hom;G>T 2541;0|87 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50903221 50903221 C T snp intronic SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs2076714 0.533946 0.5459 0.5336 1 0 0 intronic intronic intronic SBF1 SBF1 ENSG00000100241 Na Na Na Na Na Na Het;C>T 3513;187|163 Het;C>T 3438;125|152 Hom;C>T 7998;0|288 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50906518 50906518 G A snp intronic SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs1983679 0.258586 0 0 1 0 0 intronic intronic intronic SBF1 SBF1 ENSG00000100241 Na Na Na Na Na Na Het;G>A 217;6|7 Het;G>A 195;3|6 Hom;G>A 461;0|12 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50906917 50906917 C A snp intronic SBF1 Sbf1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 rs9616852 0.258986 0.3797 0.4429 1 0 0 intronic intronic intronic SBF1 SBF1 ENSG00000100241 Na Na Na Na Na Na Het;C>A 704;42|33 Het;C>A 722;36|31 Hom;C>A 1543;0|54 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50942121 50942121 C T snp nonsynonymous SNV G1748A S583N polar,hydrophilic,neutral polar,hydrophilic,neutral LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs13056405 0.138578 0.1957 0.1908 0.15 2 13 exonic exonic exonic LMF2 LMF2 ENSG00000100258 nonsynonymous SNV nonsynonymous SNV unknown LMF2:NM_033200:exon14:c.G1823A:p.S608N, LMF2:uc003blo.2:exon14:c.G1748A:p.S583N,LMF2:uc003blp.2:exon14:c.G1823A:p.S608N, UNKNOWN Het;C>T 571;28|25 Het;C>T 429;20|20 Hom;C>T 997;2|34 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50942955 50942956 GC G indel intronic LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs199861800 0.0179712 0.0217 0.0326 1 0 0 intronic intronic intronic LMF2 LMF2 ENSG00000100258 Na Na Na Na Na Na Het;-C 701;25|25 Het;-C 424;16|16 Hom;-C 1278;0|37 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50943004 50943004 C A snp synonymous SNV G1590T L530L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs762671 0.142572 0.2069 0.2133 1 0 0 exonic exonic exonic LMF2 LMF2 ENSG00000100258 synonymous SNV synonymous SNV unknown LMF2:NM_033200:exon11:c.G1590T:p.L530L, LMF2:uc003blo.2:exon11:c.G1515T:p.L505L,LMF2:uc003blp.2:exon11:c.G1590T:p.L530L, UNKNOWN Het;C>A 1964;35|49 Het;C>A 995;39|27 Hom;C>A 2374;0|52 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50943010 50943010 G A snp synonymous SNV C1584T R528R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs762670 0.142572 0.2077 0.2025 1 0 0 exonic exonic exonic LMF2 LMF2 ENSG00000100258 synonymous SNV synonymous SNV unknown LMF2:NM_033200:exon11:c.C1584T:p.R528R, LMF2:uc003blo.2:exon11:c.C1509T:p.R503R,LMF2:uc003blp.2:exon11:c.C1584T:p.R528R, UNKNOWN Het;G>A 2013;35|52 Het;G>A 1102;46|34 Hom;G>A 2556;0|62 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50943232 50943232 G A snp nonsynonymous SNV C1361T T454M polar,hydrophilic,neutral hydrophobic,neutral LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs8136495 0.141973 0.2052 0.1853 0.23 3 13 exonic exonic exonic LMF2 LMF2 ENSG00000100258 nonsynonymous SNV nonsynonymous SNV unknown LMF2:NM_033200:exon10:c.C1436T:p.T479M, LMF2:uc003blo.2:exon10:c.C1361T:p.T454M,LMF2:uc003blp.2:exon10:c.C1436T:p.T479M, UNKNOWN Het;G>A 1314;73|62 Het;G>A 1321;51|63 Hom;G>A 2828;0|108 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50944045 50944045 G A snp intronic LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs114166322 0.033746 0 0 1 0 0 intronic intronic intronic LMF2 LMF2 ENSG00000100258 Na Na Na Na Na Na Het;G>A 1300;49|54 Het;G>A 1048;29|46 Hom;G>A 2128;2|77 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50944328 50944328 C T snp intronic LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs45577642 0.0323482 0 0 1 0 0 intronic intronic intronic LMF2 LMF2 ENSG00000100258 Na Na Na Na Na Na Het;C>T 585;28|22 Het;C>T 223;19|11 Hom;C>T 1049;0|35 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50945933 50945933 G T snp intronic LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 rs41282345 0.014377 0 0 1 0 0 intronic intronic intronic LMF2 LMF2 ENSG00000100258 Na Na Na Na Na Na Het;G>T 343;19|16 Het;G>T 579;14|23 Hom;G>T 1033;1|35 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50946164 50946254 CCCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCCCAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT C indel upstream LMF2 Lmf2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 Na 0 0 0 1 0 0 upstream upstream upstream LMF2,NCAPH2 LMF2,NCAPH2 ENSG00000025770,ENSG00000100258 Na Na Na Na Na Na Het;-CCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCCCAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT 154;10|39 Ref Hom;-CCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCCCAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT 455;0|11 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50946956 50946956 G A snp intronic NCAPH2 Ncaph2 ENSG00000025770 non-SMC condensin II complex subunit H2 chr22:50946645-50961901 This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. Condensation of Prophase Chromosomes GO:0030261;chromosome condensation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IDA|GO:0045171;intercellular bridge;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCAPH2 https://www.uniprot.org/uniprot/Q6IBW4 https://www.ncbi.nlm.nih.gov/omim/?term=611230 http://www.informatics.jax.org/searchtool/Search.do?query=NCAPH2&submit=Quick%0D%703ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPH2 rs141530541 0.0363419 0 0 1 0 0 intronic intronic intronic NCAPH2 NCAPH2 ENSG00000025770 Na Na Na Na Na Na Het;G>A 182;6|9 Het;G>A 98;3|5 Hom;G>A 426;0|11 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50956386 50956386 C G snp intronic NCAPH2 Ncaph2 ENSG00000025770 non-SMC condensin II complex subunit H2 chr22:50946645-50961901 This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. Condensation of Prophase Chromosomes GO:0030261;chromosome condensation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IDA|GO:0045171;intercellular bridge;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCAPH2 https://www.uniprot.org/uniprot/Q6IBW4 https://www.ncbi.nlm.nih.gov/omim/?term=611230 http://www.informatics.jax.org/searchtool/Search.do?query=NCAPH2&submit=Quick%0D%703ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPH2 rs56394500 0.01877 0.0250 0.0276 1 0 0 intronic intronic intronic NCAPH2 NCAPH2 ENSG00000025770 Na Na Na Na Na Na Het;C>G 690;29|29 Het;C>G 375;27|17 Hom;C>G 1917;0|67 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50957598 50957598 A G snp intronic NCAPH2 Ncaph2 ENSG00000025770 non-SMC condensin II complex subunit H2 chr22:50946645-50961901 This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. Condensation of Prophase Chromosomes GO:0030261;chromosome condensation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IDA|GO:0045171;intercellular bridge;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCAPH2 https://www.uniprot.org/uniprot/Q6IBW4 https://www.ncbi.nlm.nih.gov/omim/?term=611230 http://www.informatics.jax.org/searchtool/Search.do?query=NCAPH2&submit=Quick%0D%703ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPH2 rs45499897 0.0305511 0.0399 0.0630 1 0 0 intronic intronic intronic NCAPH2 NCAPH2 ENSG00000025770 Na Na Na Na Na Na Het;A>G 274;8|11 Het;A>G 38;12|3 Hom;A>G 484;0|16 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50962948 50962948 G T snp ncRNA_exonic U62317.3 rs41281527 0.0215655 0 0.0451 1 0 0 UTR3 UTR3 ncRNA_exonic NCAPH2(NM_152299:c.*1144G>T,NM_001185011:c.*1144G>T) NCAPH2(uc003blx.4:c.*1144G>T,uc003blr.4:c.*1144G>T) ENSG00000272821 Na Na Na Na Na Na Het;G>T 79;11|4 Het;G>T 52;10|6 Hom;G>T 373;0|14 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50964599 50964599 G C snp intronic SCO2 Sco2 ENSG00000284194 SCO2, cytochrome c oxidase assembly protein chr22:50961997-50964868 Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014] Type 2 Diabetes| edema | rosiglitazone; hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele and a knock-in allele exhibit muscle weakness and reduced exercise endurance. Respiratory electron transport GO:0001654;eye development;IMP|GO:0006825;copper ion transport;IEA|GO:0006878;cellular copper ion homeostasis;IEA|GO:0008535;respiratory chain complex IV assembly;IEA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030016;myofibril;IDA GO:0005507;copper ion binding;NAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCO2 https://www.uniprot.org/uniprot/O43819 https://hpo.jax.org/app/browse/search?q=SCO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604272 http://www.informatics.jax.org/searchtool/Search.do?query=SCO2&submit=Quick%0D%22944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCO2 rs148641002 0.0181709 0.0163 0.0633 1 0 0 intronic intronic intronic SCO2,TYMP SCO2,TYMP ENSG00000025708,ENSG00000130489 Na Na Na Na Na Na Het;G>C 816;35|35 Het;G>C 650;24|29 Hom;G>C 1126;2|43 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50967408 50967435 GGGGTGGGGAGAACTGTGCTGGGGAGCA G indel intronic TYMP Tymp ENSG00000025708 thymidine phosphorylase chr22:50964181-50968485 This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012] Erythrocyte Indices; encephalomyopathy; Deafness|Diabetes Complications|Diabetes Mellitus|Intestinal Pseudo-Obstruction|Pancreatitis|Recurrence; Intestinal Pseudo-Obstruction|Mitochondrial Diseases; mean corpuscular volume; Type 2 Diabetes| edema | rosiglitazone; Amyotrophic Lateral Sclerosis|Anoxia| Mice homozygous for a null allele exhibit reduced thymidine phosphorylase activity and increased thymidine levels. Pyrimidine catabolism GO:0000002;mitochondrial genome maintenance;IMP|GO:0001525;angiogenesis;IEA|GO:0006206;pyrimidine nucleobase metabolic process;IEA|GO:0006213;pyrimidine nucleoside metabolic process;IEA|GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0031641;regulation of myelination;IMP|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0046135;pyrimidine nucleoside catabolic process;TAS|GO:0051969;regulation of transmission of nerve impulse;IMP|GO:1905333;regulation of gastric motility;IMP GO:0005829;cytosol;TAS GO:0004645;phosphorylase activity;IEA|GO:0008083;growth factor activity;IEA|GO:0009032;thymidine phosphorylase activity;IDA|GO:0016154;pyrimidine-nucleoside phosphorylase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016763;transferase activity, transferring pentosyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TYMP https://www.uniprot.org/uniprot/P19971 https://hpo.jax.org/app/browse/search?q=TYMP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=131222 http://www.informatics.jax.org/searchtool/Search.do?query=TYMP&submit=Quick%0D%702ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TYMP rs569931834 0 0 0 1 0 0 intronic intronic intronic TYMP TYMP ENSG00000025708 Na Na Na Na Na Na Het;-GGGTGGGGAGAACTGTGCTGGGGAGCA 494;5|13 Het;-GGGTGGGGAGAACTGTGCTGGGGAGCA 110;7|4 Hom;-GGGTGGGGAGAACTGTGCTGGGGAGCA 154;0|5 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50969647 50969647 C G snp nonsynonymous SNV G320C G107A aliphatic,neutral aliphatic,hydrophobic,neutral ODF3B Odf3b ENSG00000177989 outer dense fiber of sperm tails 3B chr22:50968139-50971009 Multiple Sclerosis; Erythrocyte Indices; Type 2 Diabetes| edema | rosiglitazone http://www.genecards.org/index.php?path=/Search/keyword/ODF3B http://www.informatics.jax.org/searchtool/Search.do?query=ODF3B&submit=Quick%0D%14115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3B rs139023197 0.0201677 0.0280 0.0326 0.42 5 12 exonic exonic exonic ODF3B ODF3B ENSG00000177989 nonsynonymous SNV nonsynonymous SNV unknown ODF3B:NM_001014440:exon4:c.G391C:p.G131R, ODF3B:uc003bmg.2:exon3:c.G320C:p.G107A,ODF3B:uc003bmh.2:exon4:c.G391C:p.G131R, UNKNOWN Het;C>G 1294;53|59 Het;C>G 1367;47|64 Hom;C>G 3489;0|127 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 50970231 50970231 G C snp intronic ODF3B Odf3b ENSG00000177989 outer dense fiber of sperm tails 3B chr22:50968139-50971009 Multiple Sclerosis; Erythrocyte Indices; Type 2 Diabetes| edema | rosiglitazone http://www.genecards.org/index.php?path=/Search/keyword/ODF3B http://www.informatics.jax.org/searchtool/Search.do?query=ODF3B&submit=Quick%0D%14115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3B rs147291866 0.0179712 0.0090 0.0343 1 0 0 intronic intronic intronic ODF3B ODF3B ENSG00000177989 Na Na Na Na Na Na Het;G>C 214;13|11 Het;G>C 403;12|19 Hom;G>C 465;0|18 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51020383 51020383 T C snp UTR5 -122A>G CHKB Chkb ENSG00000100288 choline kinase beta chr22:51017378-51039884 Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009] Narcolepsy; Hypercholesterolemia|LDLC levels; BMI- Edema rosiglitazone or pioglitazone; Disorders of Excessive Somnolence|; Type 2 Diabetes| edema | rosiglitazone Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology. Synthesis of PE GO:0006629;lipid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004103;choline kinase activity;TAS|GO:0004305;ethanolamine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHKB https://www.uniprot.org/uniprot/Q9Y259 https://hpo.jax.org/app/browse/search?q=CHKB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612395 http://www.informatics.jax.org/searchtool/Search.do?query=CHKB&submit=Quick%0D%2460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB rs149303496 0.00279553 0 0 1 0 0 ncRNA_intronic UTR5 intronic CHKB-CPT1B CHKB(uc003bmu.3:c.-122A>G) ENSG00000100288 Na Na Na Na Na Na Het;T>C 630;33|27 Het;T>C 546;18|24 Hom;T>C 1246;0|44 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51045190 51045190 C T snp synonymous SNV C2145T P715P hydrophobic,neutral hydrophobic,neutral MAPK8IP2 Mapk8ip2 ENSG00000008735 mitogen-activated protein kinase 8 interacting protein 2 chr22:51039114-51052409 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014] Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. GO:0001662;behavioral fear response;IEA|GO:0007172;signal complex assembly;TAS|GO:0007254;JNK cascade;IEA|GO:0007617;mating behavior;IEA|GO:0010469;regulation of receptor activity;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0035176;social behavior;IEA|GO:0046328;regulation of JNK cascade;IDA|GO:0046958;nonassociative learning;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA GO:0001540;beta-amyloid binding;NAS|GO:0005078;MAP-kinase scaffold activity;NAS|GO:0005198;structural molecule activity;TAS|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK8IP2 https://www.uniprot.org/uniprot/Q13387 https://www.ncbi.nlm.nih.gov/omim/?term=607755 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK8IP2&submit=Quick%0D%488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK8IP2 rs1140555 0.617013 0.5660 0.6448 1 0 0 exonic exonic exonic MAPK8IP2 MAPK8IP2 ENSG00000008735 unknown synonymous SNV unknown UNKNOWN MAPK8IP2:uc003bmy.3:exon8:c.C2145T:p.P715P,MAPK8IP2:uc003bmx.3:exon10:c.C2226T:p.P742P,MAPK8IP2:uc011asc.2:exon4:c.C291T:p.P97P, UNKNOWN Het;C>T 1879;65|77 Het;C>T 1709;76|76 Hom;C>T 4728;0|172 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51045433 51045433 C T snp intronic MAPK8IP2 Mapk8ip2 ENSG00000008735 mitogen-activated protein kinase 8 interacting protein 2 chr22:51039114-51052409 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014] Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. GO:0001662;behavioral fear response;IEA|GO:0007172;signal complex assembly;TAS|GO:0007254;JNK cascade;IEA|GO:0007617;mating behavior;IEA|GO:0010469;regulation of receptor activity;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0035176;social behavior;IEA|GO:0046328;regulation of JNK cascade;IDA|GO:0046958;nonassociative learning;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA GO:0001540;beta-amyloid binding;NAS|GO:0005078;MAP-kinase scaffold activity;NAS|GO:0005198;structural molecule activity;TAS|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK8IP2 https://www.uniprot.org/uniprot/Q13387 https://www.ncbi.nlm.nih.gov/omim/?term=607755 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK8IP2&submit=Quick%0D%488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK8IP2 rs131736 0.622604 0.5797 0.6272 1 0 0 intronic intronic intronic MAPK8IP2 MAPK8IP2 ENSG00000008735 Na Na Na Na Na Na Het;C>T 661;22|27 Het;C>T 220;36|13 Hom;C>T 1197;0|44 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51045480 51045480 G A snp intronic MAPK8IP2 Mapk8ip2 ENSG00000008735 mitogen-activated protein kinase 8 interacting protein 2 chr22:51039114-51052409 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014] Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. GO:0001662;behavioral fear response;IEA|GO:0007172;signal complex assembly;TAS|GO:0007254;JNK cascade;IEA|GO:0007617;mating behavior;IEA|GO:0010469;regulation of receptor activity;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0035176;social behavior;IEA|GO:0046328;regulation of JNK cascade;IDA|GO:0046958;nonassociative learning;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA GO:0001540;beta-amyloid binding;NAS|GO:0005078;MAP-kinase scaffold activity;NAS|GO:0005198;structural molecule activity;TAS|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK8IP2 https://www.uniprot.org/uniprot/Q13387 https://www.ncbi.nlm.nih.gov/omim/?term=607755 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK8IP2&submit=Quick%0D%488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK8IP2 rs131735 0.573482 0.5175 0 1 0 0 intronic intronic intronic MAPK8IP2 MAPK8IP2 ENSG00000008735 Na Na Na Na Na Na Het;G>A 236;9|14 Het;G>A 69;12|4 Hom;G>A 429;0|18 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51048721 51048721 G A snp synonymous SNV G2301A P767P hydrophobic,neutral hydrophobic,neutral MAPK8IP2 Mapk8ip2 ENSG00000008735 mitogen-activated protein kinase 8 interacting protein 2 chr22:51039114-51052409 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014] Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. GO:0001662;behavioral fear response;IEA|GO:0007172;signal complex assembly;TAS|GO:0007254;JNK cascade;IEA|GO:0007617;mating behavior;IEA|GO:0010469;regulation of receptor activity;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0035176;social behavior;IEA|GO:0046328;regulation of JNK cascade;IDA|GO:0046958;nonassociative learning;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA GO:0001540;beta-amyloid binding;NAS|GO:0005078;MAP-kinase scaffold activity;NAS|GO:0005198;structural molecule activity;TAS|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK8IP2 https://www.uniprot.org/uniprot/Q13387 https://www.ncbi.nlm.nih.gov/omim/?term=607755 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK8IP2&submit=Quick%0D%488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK8IP2 rs14136 0.133187 0.0685 0.1144 1 0 0 exonic exonic exonic MAPK8IP2 MAPK8IP2 ENSG00000008735 unknown synonymous SNV unknown UNKNOWN MAPK8IP2:uc003bmy.3:exon10:c.G2301A:p.P767P,MAPK8IP2:uc003bmx.3:exon12:c.G2382A:p.P794P,MAPK8IP2:uc011asc.2:exon6:c.G447A:p.P149P, UNKNOWN Het;G>A 1799;95|93 Het;G>A 1493;59|76 Hom;G>A 3070;1|119 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51066552 51066552 C G snp UTR5 -345G>C ARSA Arsa ENSG00000100299 arylsulfatase A chr22:51061182-51066607 The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] alcoholism; Longevity; Alzheimer's disease; Down syndrome; metachromatic leukodystrophy; arylsulphatase A pseudodeficiency; normal nerve conduction; Chronic renal failure|Kidney Failure, Chronic; lead toxicity Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. Neutrophil degranulation GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006914;autophagy;IEA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0007417;central nervous system development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043627;response to estrogen;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045471;response to ethanol;IEA|GO:0051597;response to methylmercury;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031232;extrinsic component of external side of plasma membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IEA|GO:0004098;cerebroside-sulfatase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARSA https://www.uniprot.org/uniprot/P15289 https://hpo.jax.org/app/browse/search?q=ARSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607574 http://www.informatics.jax.org/searchtool/Search.do?query=ARSA&submit=Quick%0D%2466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSA rs6151406 0.15635 0 0 1 0 0 UTR5 UTR5 UTR5 ARSA(NM_001085427:c.-345G>C,NM_001085425:c.-345G>C,NM_000487:c.-345G>C,NM_001085428:c.-752G>C,NM_001085426:c.-345G>C) ARSA(uc003bna.4:c.-752G>C,uc021wsd.1:c.-345G>C,uc021wse.1:c.-345G>C,uc021wsf.1:c.-345G>C,uc003bmz.5:c.-345G>C,uc010hbf.3:c.-351G>C) ENSG00000100299(ENST00000216124:c.-345G>C,ENST00000356098:c.-345G>C,ENST00000547805:c.-351G>C,ENST00000547307:c.-351G>C,ENST00000395621:c.-345G>C,ENST00000453344:c.-752G>C,ENST00000395619:c.-345G>C) Na Na Na Na Na Na Het;C>G 807;34|34 Het;C>G 505;37|23 Hom;C>G 1606;0|55 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51066633 51066633 G GGGGGCGGGGCC indel upstream ARSA Arsa ENSG00000100299 arylsulfatase A chr22:51061182-51066607 The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] alcoholism; Longevity; Alzheimer's disease; Down syndrome; metachromatic leukodystrophy; arylsulphatase A pseudodeficiency; normal nerve conduction; Chronic renal failure|Kidney Failure, Chronic; lead toxicity Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. Neutrophil degranulation GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006914;autophagy;IEA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0007417;central nervous system development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043627;response to estrogen;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045471;response to ethanol;IEA|GO:0051597;response to methylmercury;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031232;extrinsic component of external side of plasma membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IEA|GO:0004098;cerebroside-sulfatase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARSA https://www.uniprot.org/uniprot/P15289 https://hpo.jax.org/app/browse/search?q=ARSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607574 http://www.informatics.jax.org/searchtool/Search.do?query=ARSA&submit=Quick%0D%2466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSA Na 0 0 0 1 0 0 upstream upstream upstream ARSA ARSA ENSG00000100299 Na Na Na Na Na Na Het;+GGGGCGGGGCC 40;16|3 Het;+GGGGCGGGGCC 133;9|5 Hom;+GGGGCGGGGCC 321;0|7 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51143606 51143606 C G snp intronic SHANK3 Shank3 ENSG00000283243 SH3 and multiple ankyrin repeat domains 3 chr22:51112843-51171726 This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] Autism; prostate cancer; schizophrenia | autism; cognitive ability; autism Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of RET signaling GO:0000165;MAPK cascade;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0007613;memory;ISS|GO:0021773;striatal medium spiny neuron differentiation;ISS|GO:0030534;adult behavior;IMP|GO:0032232;negative regulation of actin filament bundle assembly;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045794;negative regulation of cell volume;ISS|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;ISS|GO:0048854;brain morphogenesis;ISS|GO:0051835;positive regulation of synapse structural plasticity;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0071625;vocalization behavior;IMP|GO:0097107;postsynaptic density assembly;ISS|GO:0097113;AMPA glutamate receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:1900271;regulation of long-term synaptic potentiation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1900451;positive regulation of glutamate receptor signaling pathway;ISS|GO:1900452;regulation of long term synaptic depression;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000969;positive regulation of AMPA receptor activity;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;IEA|GO:0044309;neuron spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;ISS|GO:0035255;ionotropic glutamate receptor binding;ISS|GO:0043621;protein self-association;ISS|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHANK3 https://hpo.jax.org/app/browse/search?q=SHANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606230 http://www.informatics.jax.org/searchtool/Search.do?query=SHANK3&submit=Quick%0D%22711ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK3 rs76179018 0.110224 0 0 1 0 0 intronic intronic intronic SHANK3 SHANK3 ENSG00000251322 Na Na Na Na Na Na Het;C>G 262;20|11 Het;C>G 210;9|9 Hom;C>G 870;0|29 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51169045 51169045 C T snp intronic SHANK3 Shank3 ENSG00000283243 SH3 and multiple ankyrin repeat domains 3 chr22:51112843-51171726 This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] Autism; prostate cancer; schizophrenia | autism; cognitive ability; autism Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of RET signaling GO:0000165;MAPK cascade;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0007613;memory;ISS|GO:0021773;striatal medium spiny neuron differentiation;ISS|GO:0030534;adult behavior;IMP|GO:0032232;negative regulation of actin filament bundle assembly;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045794;negative regulation of cell volume;ISS|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;ISS|GO:0048854;brain morphogenesis;ISS|GO:0051835;positive regulation of synapse structural plasticity;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0071625;vocalization behavior;IMP|GO:0097107;postsynaptic density assembly;ISS|GO:0097113;AMPA glutamate receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:1900271;regulation of long-term synaptic potentiation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1900451;positive regulation of glutamate receptor signaling pathway;ISS|GO:1900452;regulation of long term synaptic depression;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000969;positive regulation of AMPA receptor activity;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;IEA|GO:0044309;neuron spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;ISS|GO:0035255;ionotropic glutamate receptor binding;ISS|GO:0043621;protein self-association;ISS|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHANK3 https://hpo.jax.org/app/browse/search?q=SHANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606230 http://www.informatics.jax.org/searchtool/Search.do?query=SHANK3&submit=Quick%0D%22711ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK3 rs8140772 0.0632987 0 0 1 0 0 intronic intronic intronic SHANK3 SHANK3 ENSG00000251322 Na Na Na Na Na Na Het;C>T 142;10|8 Het;C>T 144;9|8 Hom;C>T 97;0|4 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51174544 51174544 C CT indel ncRNA_exonic BC050343 rs10691755 0.333067 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic SHANK3(dist=2904),ACR(dist=2108) BC050343 ENSG00000225929 Na Na Na Na Na Na Het;+T 493;10|26 Het;+T 249;19|15 Hom;+T 564;3|25 22_57.194_74.694 Chr22:45430165-51215481 0.519 22 51176616 51176616 G A snp upstream ACR Acr ENSG00000283539 acrosin chr22:51176624-51183762 Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008] Males homozygous for a targeted null mutation produce sperm that shows delayed fertilization in vitro. Sperm from mutant gonial cells are ineffective at fertilization in competition with normal sperm both in vitro and in vivo. Acrosome Reaction GO:0002077;acrosome matrix dispersal;NAS|GO:0006508;proteolysis;IEA|GO:0007190;activation of adenylate cyclase activity;IDA|GO:0007338;single fertilization;ISS|GO:0007340;acrosome reaction;TAS GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0043159;acrosomal matrix;TAS|GO:0043234;protein complex;IDA GO:0002020;protease binding;TAS|GO:0003677;DNA binding;NAS|GO:0004040;amidase activity;ISS|GO:0004252;serine-type endopeptidase activity;IDA|GO:0005507;copper ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IDA|GO:0008144;drug binding;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0042806;fucose binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ACR https://www.uniprot.org/uniprot/P10323 https://www.ncbi.nlm.nih.gov/omim/?term=102480 http://www.informatics.jax.org/searchtool/Search.do?query=ACR&submit=Quick%0D%22752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACR rs182137879 0.00339457 0.0057 0.0051 1 0 0 upstream upstream upstream ACR ACR,BC050343 ENSG00000100312,ENSG00000225929 Na Na Na Na Na Na Het;G>A 2439;88|102 Het;G>A 1930;82|83 Hom;G>A 4086;2|147 N N - 2 100915629 100915629 T C snp intronic LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs4851286 0.739617 0 0 1 0 0 intronic intronic intronic LONRF2 LONRF2 ENSG00000170500 Na Na Na Na Na Na Het;T>C 327;18|14 Ref Hom;T>C 777;0|24 N N - 2 100915772 100915772 A G snp nonsynonymous SNV T1277C L426P aliphatic,hydrophobic,neutral hydrophobic,neutral LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs4851287 0.771765 0.7081 0.6918 0.23 3 13 exonic exonic exonic LONRF2 LONRF2 ENSG00000170500 nonsynonymous SNV nonsynonymous SNV unknown LONRF2:NM_198461:exon6:c.T1277C:p.L426P, LONRF2:uc002tal.4:exon6:c.T1277C:p.L426P, UNKNOWN Het;A>G 564;23|26 Ref Hom;A>G 1439;0|52 N N - 2 100916306 100916306 A G snp synonymous SNV T1140C F380F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs2033748 0.771366 0.7083 0.6885 1 0 0 exonic exonic exonic LONRF2 LONRF2 ENSG00000170500 synonymous SNV synonymous SNV unknown LONRF2:NM_198461:exon5:c.T1140C:p.F380F, LONRF2:uc002tal.4:exon5:c.T1140C:p.F380F, UNKNOWN Het;A>G 703;36|20 Ref Hom;A>G 3890;0|90 N N - 2 100916315 100916315 A G snp synonymous SNV T1131C G377G aliphatic,neutral aliphatic,neutral LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs11123823 0.290735 0.3430 0.3865 1 0 0 exonic exonic exonic LONRF2 LONRF2 ENSG00000170500 synonymous SNV synonymous SNV unknown LONRF2:NM_198461:exon5:c.T1131C:p.G377G, LONRF2:uc002tal.4:exon5:c.T1131C:p.G377G, UNKNOWN Het;A>G 697;38|20 Ref Hom;A>G 3890;0|85 N N - 2 100917109 100917109 C T snp synonymous SNV G1062A S354S polar,hydrophilic,neutral polar,hydrophilic,neutral LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs13006224 0.378594 0.3588 0.4570 1 0 0 exonic exonic exonic LONRF2 LONRF2 ENSG00000170500 synonymous SNV synonymous SNV unknown LONRF2:NM_198461:exon4:c.G1062A:p.S354S, LONRF2:uc002tal.4:exon4:c.G1062A:p.S354S, UNKNOWN Het;C>T 1137;55|50 Ref Hom;C>T 3726;0|138 N N - 2 100925439 100925439 G A snp intronic LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs11693424 0.451877 0 0 1 0 0 intronic intronic intronic LONRF2 LONRF2 ENSG00000170500 Na Na Na Na Na Na Het;G>A 163;8|6 Ref Hom;G>A 45;0|2 N N - 2 100925803 100925803 A G snp intronic LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs10195793 0.529153 0 0 1 0 0 intronic intronic intronic LONRF2 LONRF2 ENSG00000170500 Na Na Na Na Na Na Het;A>G 354;8|13 Ref Hom;A>G 487;0|16 N N - 2 100938481 100938481 C G snp nonsynonymous SNV G75C Q25H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) LONRF2 Lonrf2 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 chr2:100889753-100939195 Celiac Disease| GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LONRF2 http://www.informatics.jax.org/searchtool/Search.do?query=LONRF2&submit=Quick%0D%12723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LONRF2 rs74177696 0.394768 0 0.5275 0.33 4 12 exonic exonic exonic LONRF2 LONRF2 ENSG00000170500 nonsynonymous SNV nonsynonymous SNV unknown LONRF2:NM_198461:exon1:c.G75C:p.Q25H, LONRF2:uc002tal.4:exon1:c.G75C:p.Q25H, UNKNOWN Het;C>G 222;2|11 Ref Hom;C>G 402;0|16 N N - 2 100986964 100986964 A C snp unknown AC012493.2 rs1437971 0.829473 0 0.8521 1 0 0 intergenic intergenic exonic LONRF2(dist=47769),CHST10(dist=21358) LONRF2(dist=47769),CHST10(dist=21358) ENSG00000269383 Na Na unknown Na Na UNKNOWN Het;A>C 227;11|11 Het;A>C 177;2|6 Hom;A>C 352;0|14 N N - 2 101009600 101009600 G A snp UTR3 *107C>T CHST10 Chst10 ENSG00000115526 carbohydrate sulfotransferase 10 chr2:101008327-101034118 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. Reactions specific to the complex N-glycan synthesis pathway GO:0005975;carbohydrate metabolic process;IEA|GO:0007155;cell adhesion;TAS|GO:0016051;carbohydrate biosynthetic process;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008146;sulfotransferase activity;TAS|GO:0016232;HNK-1 sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST10 https://www.uniprot.org/uniprot/O43529 https://www.ncbi.nlm.nih.gov/omim/?term=606376 http://www.informatics.jax.org/searchtool/Search.do?query=CHST10&submit=Quick%0D%4621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST10 rs1530030 0.38778 0 0 1 0 0 UTR3 UTR3 UTR3 CHST10(NM_004854:c.*107C>T) CHST10(uc002tam.3:c.*107C>T) ENSG00000115526(ENST00000264249:c.*107C>T) Na Na Na Na Na Na Het;G>A 159;5|6 Ref Hom;G>A 249;0|9 N N - 2 101010082 101010082 G C snp synonymous SNV C696G T232T polar,hydrophilic,neutral polar,hydrophilic,neutral CHST10 Chst10 ENSG00000115526 carbohydrate sulfotransferase 10 chr2:101008327-101034118 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. Reactions specific to the complex N-glycan synthesis pathway GO:0005975;carbohydrate metabolic process;IEA|GO:0007155;cell adhesion;TAS|GO:0016051;carbohydrate biosynthetic process;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008146;sulfotransferase activity;TAS|GO:0016232;HNK-1 sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST10 https://www.uniprot.org/uniprot/O43529 https://www.ncbi.nlm.nih.gov/omim/?term=606376 http://www.informatics.jax.org/searchtool/Search.do?query=CHST10&submit=Quick%0D%4621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST10 rs3748930 0.605831 0.5399 0.5427 1 0 0 exonic exonic exonic CHST10 CHST10 ENSG00000115526 synonymous SNV synonymous SNV unknown CHST10:NM_004854:exon7:c.C696G:p.T232T, CHST10:uc002tam.3:exon7:c.C696G:p.T232T, UNKNOWN Het;G>C 1960;64|87 Het;G>C 1062;100|53 Hom;G>C 3406;6|130 N N - 2 101011877 101011877 T C snp intronic CHST10 Chst10 ENSG00000115526 carbohydrate sulfotransferase 10 chr2:101008327-101034118 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. Reactions specific to the complex N-glycan synthesis pathway GO:0005975;carbohydrate metabolic process;IEA|GO:0007155;cell adhesion;TAS|GO:0016051;carbohydrate biosynthetic process;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008146;sulfotransferase activity;TAS|GO:0016232;HNK-1 sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST10 https://www.uniprot.org/uniprot/O43529 https://www.ncbi.nlm.nih.gov/omim/?term=606376 http://www.informatics.jax.org/searchtool/Search.do?query=CHST10&submit=Quick%0D%4621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST10 rs2241810 0.387181 0 0 1 0 0 intronic intronic intronic CHST10 CHST10 ENSG00000115526 Na Na Na Na Na Na Het;T>C 173;9|6 Ref Hom;T>C 404;0|14 N N - 2 101014363 101014363 C T snp intronic CHST10 Chst10 ENSG00000115526 carbohydrate sulfotransferase 10 chr2:101008327-101034118 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. Reactions specific to the complex N-glycan synthesis pathway GO:0005975;carbohydrate metabolic process;IEA|GO:0007155;cell adhesion;TAS|GO:0016051;carbohydrate biosynthetic process;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008146;sulfotransferase activity;TAS|GO:0016232;HNK-1 sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST10 https://www.uniprot.org/uniprot/O43529 https://www.ncbi.nlm.nih.gov/omim/?term=606376 http://www.informatics.jax.org/searchtool/Search.do?query=CHST10&submit=Quick%0D%4621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST10 rs2241809 0.367013 0.3565 0.4613 1 0 0 intronic intronic intronic CHST10 CHST10 ENSG00000115526 Na Na Na Na Na Na Het;C>T 980;28|39 Ref Hom;C>T 1143;2|43 N N - 2 101042122 101042122 T G snp ncRNA_exonic AC012493.1 rs7590388 0.634185 0 0 1 0 0 intergenic intergenic ncRNA_exonic CHST10(dist=7992),NMS(dist=44822) CHST10(dist=7992),NMS(dist=44822) ENSG00000238029 Na Na Na Na Na Na Het;T>G 662;43|27 Het;T>G 848;18|35 Hom;T>G 1969;0|66 N N - 2 101055231 101055231 A G snp intergenic CHST10 Chst10 ENSG00000115526 carbohydrate sulfotransferase 10 chr2:101008327-101034118 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. Reactions specific to the complex N-glycan synthesis pathway GO:0005975;carbohydrate metabolic process;IEA|GO:0007155;cell adhesion;TAS|GO:0016051;carbohydrate biosynthetic process;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008146;sulfotransferase activity;TAS|GO:0016232;HNK-1 sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST10 https://www.uniprot.org/uniprot/O43529 https://www.ncbi.nlm.nih.gov/omim/?term=606376 http://www.informatics.jax.org/searchtool/Search.do?query=CHST10&submit=Quick%0D%4621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST10 rs78790759 0.308906 0 0 1 0 0 intergenic intergenic intergenic CHST10(dist=21101),NMS(dist=31713) CHST10(dist=21101),NMS(dist=31713) ENSG00000238029(dist=12662),ENSG00000204640(dist=31713) Na Na Na Na Na Na Het;A>G 256;6|8 Ref Hom;A>G 473;0|12 N N - 2 101768095 101768095 C T snp upstream BC077729 rs62152496 0.171526 0 0 1 0 0 upstream upstream upstream TBC1D8 BC077729,TBC1D8 ENSG00000204634,ENSG00000272902 Na Na Na Na Na Na Het;C>T 1092;33|29 Het;C>T 1219;24|32 Hom;C>T 807;0|18 N N - 2 101768104 101768104 T C snp upstream BC077729 rs13392166 0.638978 0 0 1 0 0 upstream upstream upstream TBC1D8 BC077729,TBC1D8 ENSG00000204634,ENSG00000272902 Na Na Na Na Na Na Het;T>C 1070;33|30 Het;T>C 1185;28|31 Hom;T>C 1002;0|25 N N - 2 101768115 101768115 T C snp upstream BC077729 rs12466496 0.638778 0 0 1 0 0 upstream upstream upstream TBC1D8 BC077729,TBC1D8 ENSG00000204634,ENSG00000272902 Na Na Na Na Na Na Het;T>C 742;37|31 Het;T>C 753;33|31 Hom;T>C 1012;0|34 N N - 2 101768774 101768774 G C snp ncRNA_exonic BC077729 rs2241872 0.648762 0 0 1 0 0 upstream ncRNA_exonic ncRNA_exonic TBC1D8 BC077729 ENSG00000272902 Na Na Na Na Na Na Het;G>C 1448;64|58 Het;G>C 1177;61|45 Hom;G>C 3640;0|131 N N - 2 101770430 101770430 C G snp ncRNA_intronic BC077729 rs2871393 0.657748 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic TBC1D8(dist=2584),CNOT11(dist=98915) BC077729 ENSG00000272902 Na Na Na Na Na Na Het;C>G 316;14|12 Het;C>G 126;4|6 Hom;C>G 474;0|15 N N - 2 103375056 103375056 T G snp intronic TMEM182 Tmem182 ENSG00000170417 transmembrane protein 182 chr2:103353367-103460352 Cystatins; Angiography; Breath Tests; Iron; Blood Pressure; Myocardial Infarction; Erythrocyte Count; Respiratory Function Tests; Tunica Media; Hemoglobins; Bone Density; Bipolar Disorder; Electrocardiography; HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM182 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM182&submit=Quick%0D%12697ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM182 rs2732838 0.492013 0 0 1 0 0 intergenic intronic intronic MFSD9(dist=21719),TMEM182(dist=3434) TMEM182 ENSG00000170417 Na Na Na Na Na Na Het;T>G 640;12|19 Ref Hom;T>G 1056;0|31 N N - 2 103378857 103378857 C G snp intronic TMEM182 Tmem182 ENSG00000170417 transmembrane protein 182 chr2:103353367-103460352 Cystatins; Angiography; Breath Tests; Iron; Blood Pressure; Myocardial Infarction; Erythrocyte Count; Respiratory Function Tests; Tunica Media; Hemoglobins; Bone Density; Bipolar Disorder; Electrocardiography; HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM182 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM182&submit=Quick%0D%12697ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM182 rs2540298 0.486621 0.4817 0.4459 1 0 0 intronic intronic intronic TMEM182 TMEM182 ENSG00000170417 Na Na Na Na Na Na Het;C>G 1904;88|75 Ref Hom;C>G 5042;0|159 N N - 2 103380998 103380998 C G snp intronic TMEM182 Tmem182 ENSG00000170417 transmembrane protein 182 chr2:103353367-103460352 Cystatins; Angiography; Breath Tests; Iron; Blood Pressure; Myocardial Infarction; Erythrocyte Count; Respiratory Function Tests; Tunica Media; Hemoglobins; Bone Density; Bipolar Disorder; Electrocardiography; HIV-1 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM182 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM182&submit=Quick%0D%12697ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM182 rs2540296 0.249601 0 0 1 0 0 intronic intronic intronic TMEM182 TMEM182 ENSG00000170417 Na Na Na Na Na Na Het;C>G 59;8|3 Ref Hom;C>G 229;0|6 N N - 2 105123831 105123831 A T snp ncRNA_exonic LINC01102 rs3762500 0.376398 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01102 LOC150568 ENSG00000235597 Na Na Na Na Na Na Het;A>T 134;16|9 Het;A>T 106;8|6 Hom;A>T 531;0|22 N N - 2 105880734 105880734 G A snp downstream TGFBRAP1 Tgfbrap1 ENSG00000135966 transforming growth factor beta receptor associated protein 1 chr2:105880871-105946491 This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016] Acquired Immunodeficiency Syndrome|HIV Seropositivity; Acquired Immunodeficiency Syndrome; AIDS; hepatitis C, chronic; Tobacco Use Disorder GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0016020;membrane;IDA|GO:0033263;CORVET complex;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005160;transforming growth factor beta receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TGFBRAP1 https://www.uniprot.org/uniprot/Q8WUH2 https://www.ncbi.nlm.nih.gov/omim/?term=606237 http://www.informatics.jax.org/searchtool/Search.do?query=TGFBRAP1&submit=Quick%0D%7259ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFBRAP1 rs2254301 0.500599 0 0 1 0 0 downstream downstream downstream TGFBRAP1 LOC644617 ENSG00000135966 Na Na Na Na Na Na Het;G>A 141;2|5 Ref Hom;G>A 97;0|4 N N - 2 105883624 105883652 TTTCCATGTACATTCATAGAGCCTGGTCA T indel UTR3 *216_*188delinsA TGFBRAP1 Tgfbrap1 ENSG00000135966 transforming growth factor beta receptor associated protein 1 chr2:105880871-105946491 This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016] Acquired Immunodeficiency Syndrome|HIV Seropositivity; Acquired Immunodeficiency Syndrome; AIDS; hepatitis C, chronic; Tobacco Use Disorder GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0016020;membrane;IDA|GO:0033263;CORVET complex;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005160;transforming growth factor beta receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TGFBRAP1 https://www.uniprot.org/uniprot/Q8WUH2 https://www.ncbi.nlm.nih.gov/omim/?term=606237 http://www.informatics.jax.org/searchtool/Search.do?query=TGFBRAP1&submit=Quick%0D%7259ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFBRAP1 rs531353194 0.798522 0 0 1 0 0 UTR3 UTR3 UTR3 TGFBRAP1(NM_001142621:c.*216_*188delinsA,NM_004257:c.*216_*188delinsA) TGFBRAP1(uc010fjc.3:c.*216_*188delinsA,uc002tcq.3:c.*216_*188delinsA,uc002tcr.4:c.*216_*188delinsA) ENSG00000135966(ENST00000393359:c.*216_*188delinsA,ENST00000258449:c.*216_*188delinsA) Na Na Na Na Na Na Het;-TTCCATGTACATTCATAGAGCCTGGTCA 3057;139|88 Het;-TTCCATGTACATTCATAGAGCCTGGTCA 1083;112|58 Hom;-TTCCATGTACATTCATAGAGCCTGGTCA 6797;0|159 N N - 2 105924510 105924510 A G snp synonymous SNV T249C R83R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TGFBRAP1 Tgfbrap1 ENSG00000135966 transforming growth factor beta receptor associated protein 1 chr2:105880871-105946491 This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016] Acquired Immunodeficiency Syndrome|HIV Seropositivity; Acquired Immunodeficiency Syndrome; AIDS; hepatitis C, chronic; Tobacco Use Disorder GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0007165;signal transduction;IDA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0016020;membrane;IDA|GO:0033263;CORVET complex;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005160;transforming growth factor beta receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TGFBRAP1 https://www.uniprot.org/uniprot/Q8WUH2 https://www.ncbi.nlm.nih.gov/omim/?term=606237 http://www.informatics.jax.org/searchtool/Search.do?query=TGFBRAP1&submit=Quick%0D%7259ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFBRAP1 rs2241801 0.635783 0.5549 0.5428 1 0 0 exonic exonic exonic TGFBRAP1 TGFBRAP1 ENSG00000135966 synonymous SNV synonymous SNV unknown TGFBRAP1:NM_004257:exon2:c.T249C:p.R83R,TGFBRAP1:NM_001142621:exon2:c.T249C:p.R83R, TGFBRAP1:uc002tcq.3:exon2:c.T249C:p.R83R,TGFBRAP1:uc002tcr.4:exon2:c.T249C:p.R83R, UNKNOWN Het;A>G 2100;89|85 Het;A>G 1551;74|66 Hom;A>G 4513;0|155 N N - 2 105953938 105953938 G GC indel unknown C2orf49 AI597479 ENSG00000135974 chromosome 2 open reading frame 49 chr2:105953816-105965668 tRNA processing in the nucleus GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0008150;biological_process;ND|GO:0048598;embryonic morphogenesis;IEA GO:0005654;nucleoplasm;TAS|GO:0072669;tRNA-splicing ligase complex;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C2orf49 https://www.uniprot.org/uniprot/Q9BVC5 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf49&submit=Quick%0D%7263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf49 rs3217439 0.770767 0 0.7650 1 0 0 UTR5 upstream exonic C2orf49(NM_024093:c.-107G>GC,NM_001286537:c.-107G>GC) C2orf49 ENSG00000135974 Na Na unknown Na Na UNKNOWN Het;+C 163;8|6 Het;+C 76;12|4 Hom;+C 367;0|10 N N - 2 105961703 105961703 G A snp intronic C2orf49 AI597479 ENSG00000135974 chromosome 2 open reading frame 49 chr2:105953816-105965668 tRNA processing in the nucleus GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0008150;biological_process;ND|GO:0048598;embryonic morphogenesis;IEA GO:0005654;nucleoplasm;TAS|GO:0072669;tRNA-splicing ligase complex;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C2orf49 https://www.uniprot.org/uniprot/Q9BVC5 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf49&submit=Quick%0D%7263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf49 rs2679842 0.635184 0.5509 0 1 0 0 intronic intronic intronic C2orf49 C2orf49 ENSG00000135974 Na Na Na Na Na Na Het;G>A 913;43|38 Het;G>A 683;20|30 Hom;G>A 1781;0|60 N N - 2 106682226 106682226 T C snp synonymous SNV T6C A2A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C2orf40 1500015O10Rik ENSG00000119147 chromosome 2 open reading frame 40 chr2:106679702-106694615 Homozygous null mice show extended replicative capacity of neural stem cells and enhanced spatial learning and memory. GO:0031145;anaphase-promoting complex-dependent catabolic process;IEA|GO:0070314;G1 to G0 transition;IEA|GO:0090398;cellular senescence;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0030133;transport vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C2orf40 https://www.uniprot.org/uniprot/Q9H1Z8 https://www.ncbi.nlm.nih.gov/omim/?term=611752 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf40&submit=Quick%0D%5037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf40 rs4271786 0.253994 0.1433 0.3070 1 0 0 exonic exonic exonic C2orf40 C2orf40 ENSG00000119147 synonymous SNV synonymous SNV unknown C2orf40:NM_032411:exon1:c.T6C:p.A2A, C2orf40:uc010fjf.3:exon1:c.T6C:p.A2A, UNKNOWN Het;T>C 126;16|5 Het;T>C 374;6|10 Hom;T>C 287;0|7 N N - 2 106682235 106682235 C G snp synonymous SNV C15G P5P hydrophobic,neutral hydrophobic,neutral C2orf40 1500015O10Rik ENSG00000119147 chromosome 2 open reading frame 40 chr2:106679702-106694615 Homozygous null mice show extended replicative capacity of neural stem cells and enhanced spatial learning and memory. GO:0031145;anaphase-promoting complex-dependent catabolic process;IEA|GO:0070314;G1 to G0 transition;IEA|GO:0090398;cellular senescence;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0030133;transport vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C2orf40 https://www.uniprot.org/uniprot/Q9H1Z8 https://www.ncbi.nlm.nih.gov/omim/?term=611752 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf40&submit=Quick%0D%5037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf40 rs4266035 0.230831 0 0.3136 1 0 0 exonic exonic exonic C2orf40 C2orf40 ENSG00000119147 synonymous SNV synonymous SNV unknown C2orf40:NM_032411:exon1:c.C15G:p.P5P, C2orf40:uc010fjf.3:exon1:c.C15G:p.P5P, UNKNOWN Het;C>G 126;16|4 Het;C>G 374;6|10 Hom;C>G 361;0|10 N N - 2 106682365 106682365 T G snp intronic C2orf40 1500015O10Rik ENSG00000119147 chromosome 2 open reading frame 40 chr2:106679702-106694615 Homozygous null mice show extended replicative capacity of neural stem cells and enhanced spatial learning and memory. GO:0031145;anaphase-promoting complex-dependent catabolic process;IEA|GO:0070314;G1 to G0 transition;IEA|GO:0090398;cellular senescence;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0030133;transport vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C2orf40 https://www.uniprot.org/uniprot/Q9H1Z8 https://www.ncbi.nlm.nih.gov/omim/?term=611752 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf40&submit=Quick%0D%5037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf40 rs4477942 0.231829 0 0 1 0 0 intronic intronic intronic C2orf40 C2orf40 ENSG00000119147 Na Na Na Na Na Na Het;T>G 82;5|5 Het;T>G 212;3|10 Hom;T>G 152;0|6 N N - 2 106992952 106992952 A G snp ncRNA_exonic AC114755.5 rs4641931 0.69369 0 0 1 0 0 intergenic intergenic ncRNA_exonic UXS1(dist=182157),PLGLA(dist=5618) UXS1(dist=182157),PLGLA(dist=5618) ENSG00000235486 Na Na Na Na Na Na Het;A>G 1063;68|31 Het;A>G 847;58|25 Hom;A>G 4206;0|95 N N - 2 106992963 106992963 A AG indel ncRNA_exonic AC114755.5 rs11464214 0.871605 0 0 1 0 0 intergenic intergenic ncRNA_exonic UXS1(dist=182168),PLGLA(dist=5607) UXS1(dist=182168),PLGLA(dist=5607) ENSG00000235486 Na Na Na Na Na Na Het;+G 1079;68|32 Het;+G 841;57|25 Hom;+G 4361;0|100 N N - 2 106993152 106993152 G T snp ncRNA_intronic AC114755.5 rs4471887 0.694089 0 0 1 0 0 intergenic intergenic ncRNA_intronic UXS1(dist=182357),PLGLA(dist=5418) UXS1(dist=182357),PLGLA(dist=5418) ENSG00000235486 Na Na Na Na Na Na Het;G>T 75;1|3 Het;G>T 70;1|3 Hom;G>T 160;0|5 N N - 2 106994382 106994382 A G snp ncRNA_intronic AC114755.5 rs62145217 0.694289 0 0 1 0 0 intergenic intergenic ncRNA_intronic UXS1(dist=183587),PLGLA(dist=4188) UXS1(dist=183587),PLGLA(dist=4188) ENSG00000235486 Na Na Na Na Na Na Het;A>G 222;20|13 Het;A>G 44;17|3 Hom;A>G 310;0|12 N N - 2 106994455 106994455 C T snp ncRNA_exonic AC114755.5 rs62145218 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic UXS1(dist=183660),PLGLA(dist=4115) UXS1(dist=183660),PLGLA(dist=4115) ENSG00000235486 Na Na Na Na Na Na Het;C>T 139;47|11 Ref Hom;C>T 347;0|14 N N - 2 107040564 107040564 C T snp nonsynonymous SNV G3859A E1287K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) RGPD3 Ranbp2 ENSG00000153165 RANBP2-like and GRIP domain containing 3 chr2:107021446-107084832 This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011] Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses. GO:0000042;protein targeting to Golgi;IEA|GO:0046907;intracellular transport;IEA GO:0005622;intracellular;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGPD3 https://www.uniprot.org/uniprot/A6NKT7 https://www.ncbi.nlm.nih.gov/omim/?term=612706 http://www.informatics.jax.org/searchtool/Search.do?query=RGPD3&submit=Quick%0D%9636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGPD3 rs5007560 0.142572 0.2064 0.2290 0.50 6 12 exonic exonic exonic RGPD3 RGPD3 ENSG00000153165 nonsynonymous SNV nonsynonymous SNV unknown RGPD3:NM_001144013:exon20:c.G3859A:p.E1287K, RGPD3:uc010ywi.1:exon20:c.G3859A:p.E1287K, UNKNOWN Het;C>T 4295;44|165 Ref Hom;C>T 13798;1|501 N N - 2 107057642 107057642 A T snp intronic RGPD3 Ranbp2 ENSG00000153165 RANBP2-like and GRIP domain containing 3 chr2:107021446-107084832 This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011] Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses. GO:0000042;protein targeting to Golgi;IEA|GO:0046907;intracellular transport;IEA GO:0005622;intracellular;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGPD3 https://www.uniprot.org/uniprot/A6NKT7 https://www.ncbi.nlm.nih.gov/omim/?term=612706 http://www.informatics.jax.org/searchtool/Search.do?query=RGPD3&submit=Quick%0D%9636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGPD3 rs62152472 0.124201 0 0 1 0 0 intronic intronic intronic RGPD3 RGPD3 ENSG00000153165 Na Na Na Na Na Na Het;A>T 749;23|27 Ref Hom;A>T 1730;3|54 N N - 2 107073469 107073469 T A snp synonymous SNV A363T A121A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RGPD3 Ranbp2 ENSG00000153165 RANBP2-like and GRIP domain containing 3 chr2:107021446-107084832 This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011] Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses. GO:0000042;protein targeting to Golgi;IEA|GO:0046907;intracellular transport;IEA GO:0005622;intracellular;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGPD3 https://www.uniprot.org/uniprot/A6NKT7 https://www.ncbi.nlm.nih.gov/omim/?term=612706 http://www.informatics.jax.org/searchtool/Search.do?query=RGPD3&submit=Quick%0D%9636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGPD3 rs62152528 0 0 0.7655 1 0 0 exonic exonic exonic RGPD3 RGPD3 ENSG00000153165 synonymous SNV synonymous SNV unknown RGPD3:NM_001144013:exon4:c.A363T:p.A121A, RGPD3:uc010ywi.1:exon4:c.A363T:p.A121A, UNKNOWN Het;T>A 2230;149|109 Ref Hom;T>A 6867;12|283 N N - 2 107073501 107073501 C T snp nonsynonymous SNV G331A D111N polar,hydrophilic,charged(-) polar,hydrophilic,neutral RGPD3 Ranbp2 ENSG00000153165 RANBP2-like and GRIP domain containing 3 chr2:107021446-107084832 This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011] Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses. GO:0000042;protein targeting to Golgi;IEA|GO:0046907;intracellular transport;IEA GO:0005622;intracellular;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGPD3 https://www.uniprot.org/uniprot/A6NKT7 https://www.ncbi.nlm.nih.gov/omim/?term=612706 http://www.informatics.jax.org/searchtool/Search.do?query=RGPD3&submit=Quick%0D%9636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGPD3 rs62152530 0 0 0.7627 0.58 7 12 exonic exonic exonic RGPD3 RGPD3 ENSG00000153165 nonsynonymous SNV nonsynonymous SNV unknown RGPD3:NM_001144013:exon4:c.G331A:p.D111N, RGPD3:uc010ywi.1:exon4:c.G331A:p.D111N, UNKNOWN Het;C>T 2181;150|108 Ref Hom;C>T 6716;12|277 N N - 2 107107567 107107567 G C snp ncRNA_exonic CD8B2 rs2228021 0.733427 0 0 1 0 0 intergenic intergenic ncRNA_exonic RGPD3(dist=22766),ST6GAL2(dist=310489) RGPD3(dist=22766),ST6GAL2(dist=310489) ENSG00000254126 Na Na Na Na Na Na Het;G>C 1553;85|72 Ref Hom;G>C 2471;0|90 N N - 2 107120812 107120812 T A snp ncRNA_intronic CD8B2 rs62154001 0.11901 0 0 1 0 0 intergenic intergenic ncRNA_intronic RGPD3(dist=36011),ST6GAL2(dist=297244) RGPD3(dist=36011),ST6GAL2(dist=297244) ENSG00000254126 Na Na Na Na Na Na Het;T>A 439;17|19 Ref Hom;T>A 803;0|29 N N - 2 108875244 108875244 T C snp nonsynonymous SNV T581C M194T hydrophobic,neutral polar,hydrophilic,neutral SULT1C3 Sult1c1 ENSG00000196228 sulfotransferase family 1C member 3 chr2:108863651-108881807 Tobacco Use Disorder GO:0006790;sulfur compound metabolic process;IEA GO:0005737;cytoplasm;IEA GO:0004027;alcohol sulfotransferase activity;IDA|GO:0004062;aryl sulfotransferase activity;IEA|GO:0008146;sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SULT1C3 https://www.ncbi.nlm.nih.gov/omim/?term=617151 http://www.informatics.jax.org/searchtool/Search.do?query=SULT1C3&submit=Quick%0D%16295ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULT1C3 rs6722745 0.508387 0.3924 0.3916 0.08 1 13 exonic exonic exonic SULT1C3 SULT1C3 ENSG00000196228 nonsynonymous SNV nonsynonymous SNV unknown SULT1C3:NM_001008743:exon5:c.T581C:p.M194T, SULT1C3:uc010ywo.2:exon5:c.T581C:p.M194T, UNKNOWN Het;T>C 532;11|23 Ref Hom;T>C 844;0|33 N N - 2 108875471 108875471 G T snp unknown SULT1C3 Sult1c1 ENSG00000196228 sulfotransferase family 1C member 3 chr2:108863651-108881807 Tobacco Use Disorder GO:0006790;sulfur compound metabolic process;IEA GO:0005737;cytoplasm;IEA GO:0004027;alcohol sulfotransferase activity;IDA|GO:0004062;aryl sulfotransferase activity;IEA|GO:0008146;sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SULT1C3 https://www.ncbi.nlm.nih.gov/omim/?term=617151 http://www.informatics.jax.org/searchtool/Search.do?query=SULT1C3&submit=Quick%0D%16295ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULT1C3 rs13385082 0.591454 0 0.5645 1 0 0 intronic intronic exonic SULT1C3 SULT1C3 ENSG00000196228 Na Na unknown Na Na UNKNOWN Het;G>T 829;29|33 Ref Hom;G>T 2455;0|92 N N - 2 108893909 108893909 T C snp ncRNA_exonic WASF1P1 rs6542761 0.756789 0 0 1 0 0 intergenic intergenic ncRNA_exonic SULT1C3(dist=12102),SULT1C2(dist=11186) SULT1C3(dist=12102),SULT1C2(dist=11186) ENSG00000227597 Na Na Na Na Na Na Het;T>C 42;4|3 Ref Hom;T>C 303;0|12 N N - 2 108915136 108915136 T C snp intronic SULT1C2 Sult1c2 ENSG00000198203 sulfotransferase family 1C member 2 chr2:108905095-108926371 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Hearing Loss; drug-related genes ; leukemia, acute myeloblastic Cytosolic sulfonation of small molecules GO:0009308;amine metabolic process;TAS|GO:0050427;3'-phosphoadenosine 5'-phosphosulfate metabolic process;TAS|GO:0051923;sulfation;IDA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004062;aryl sulfotransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008146;sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SULT1C2 https://www.ncbi.nlm.nih.gov/omim/?term=602385 http://www.informatics.jax.org/searchtool/Search.do?query=SULT1C2&submit=Quick%0D%16845ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULT1C2 rs7590599 0.750998 0 0.5833 1 0 0 intronic intronic intronic SULT1C2 SULT1C2 ENSG00000198203 Na Na Na Na Na Na Het;T>C 47;4|4 Ref Hom;T>C 206;0|8 N N - 2 109065481 109065481 C CA indel UTR5 -250C>CA GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs397870726 0.447484 0 0 1 0 0 upstream upstream UTR5 GCC2 GCC2 ENSG00000135968(ENST00000309863:c.-250C>CA) Na Na Na Na Na Na Het;+A 622;18|20 Ref Hom;+A 813;0|21 N N - 2 109065919 109065919 T C snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs3820957 0.438498 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;T>C 174;13|7 Ref Hom;T>C 231;0|7 N N - 2 109067688 109067688 T G snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs13411256 0.44369 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;T>G 116;5|5 Ref Hom;T>G 131;0|4 N N - 2 109085373 109085373 A G snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs10179602 0.421725 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;A>G 689;23|29 Ref Hom;A>G 1087;0|36 N N - 2 109085654 109085658 CAAAG C indel intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs71980528 0.436502 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;-AAAG 83;2|3 Ref Hom;-AAAG 233;0|6 N N - 2 109092121 109092121 G A snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs3213886 0.436302 0.3112 0.4620 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;G>A 350;29|20 Ref Hom;G>A 1326;0|49 N N - 2 109102491 109102491 C A snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs12619704 0.436302 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;C>A 218;6|7 Ref Hom;C>A 431;0|12 N N - 2 109103108 109103108 C T snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs3754925 0.44369 0.3291 0.4450 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;C>T 1681;61|71 Ref Hom;C>T 3791;0|137 N N - 2 109106381 109106381 A G snp synonymous SNV A4140G Q1380Q polar,hydrophilic,neutral polar,hydrophilic,neutral GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs12104502 0.45647 0.3433 0.4509 1 0 0 exonic exonic exonic GCC2 GCC2 ENSG00000135968 synonymous SNV synonymous SNV unknown GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q, GCC2:uc002tec.3:exon18:c.A4140G:p.Q1380Q,GCC2:uc002ted.3:exon17:c.A3837G:p.Q1279Q, UNKNOWN Het;A>G 1217;93|58 Ref Hom;A>G 3404;2|126 N N - 2 109111660 109111660 T G snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs11123697 0.447484 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;T>G 81;1|3 Ref Hom;T>G 226;0|6 N N - 2 109123950 109123950 T A snp intronic GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs9973734 0.45647 0 0 1 0 0 intronic intronic intronic GCC2 GCC2 ENSG00000135968 Na Na Na Na Na Na Het;T>A 763;40|33 Ref Hom;T>A 1895;0|62 N N - 2 109123988 109123988 C CT indel ncRNA_exonic GCC2-AS1 rs201688853 0.35623 0.2899 0.3670 1 0 0 intronic intronic ncRNA_exonic GCC2 GCC2 ENSG00000214184 Na Na Na Na Na Na Het;+T 1023;110|65 Ref Hom;+T 2608;17|124 N N - 2 109124356 109124356 C A snp UTR3 *270C>A GCC2 Gcc2 ENSG00000135968 GRIP and coiled-coil domain containing 2 chr2:109065017-109125871 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IEA|GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0034453;microtubule anchoring;IMP|GO:0034499;late endosome to Golgi transport;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0070861;regulation of protein exit from endoplasmic reticulum;IMP|GO:0071955;recycling endosome to Golgi transport;IMP|GO:0090161;Golgi ribbon formation;IMP GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCC2 https://www.uniprot.org/uniprot/Q8IWJ2 https://www.ncbi.nlm.nih.gov/omim/?term=612711 http://www.informatics.jax.org/searchtool/Search.do?query=GCC2&submit=Quick%0D%7260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCC2 rs13386343 0.441893 0 0 1 0 0 UTR3 ncRNA_intronic ncRNA_intronic GCC2(NM_181453:c.*270C>A) FLJ38668 ENSG00000214184 Na Na Na Na Na Na Het;C>A 999;44|48 Ref Hom;C>A 2280;0|90 N N - 2 109128378 109128378 G A snp ncRNA_exonic GCC2-AS1 rs72627470 0.440895 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_exonic GCC2(dist=2524),LIMS1(dist=22433) FLJ38668 ENSG00000214184 Na Na Na Na Na Na Het;G>A 1036;59|48 Ref Hom;G>A 2399;0|88 N N - 2 109150164 109150164 C T snp upstream LIMS1 Lims1 ENSG00000169756 LIM zinc finger domain containing 1 chr2:109150857-109303702 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5. E5.5 null embryos exhibit decreased cell proliferation and excessive cell death. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0007569;cell aging;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034329;cell junction assembly;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045184;establishment of protein localization;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IMP|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMS1 https://www.ncbi.nlm.nih.gov/omim/?term=602567 http://www.informatics.jax.org/searchtool/Search.do?query=LIMS1&submit=Quick%0D%12560ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS1 rs11123706 0.361621 0 0 1 0 0 upstream ncRNA_intronic ncRNA_intronic LIMS1 FLJ38668 ENSG00000214184 Na Na Na Na Na Na Het;C>T 69;2|3 Ref Hom;C>T 121;0|4 N N - 2 109278500 109278500 G A snp intronic LIMS1 Lims1 ENSG00000169756 LIM zinc finger domain containing 1 chr2:109150857-109303702 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5. E5.5 null embryos exhibit decreased cell proliferation and excessive cell death. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0007569;cell aging;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034329;cell junction assembly;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045184;establishment of protein localization;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IMP|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMS1 https://www.ncbi.nlm.nih.gov/omim/?term=602567 http://www.informatics.jax.org/searchtool/Search.do?query=LIMS1&submit=Quick%0D%12560ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS1 rs12619855 0.433307 0 0 1 0 0 intronic intronic intronic LIMS1 LIMS1 ENSG00000169756 Na Na Na Na Na Na Het;G>A 258;3|9 Ref Hom;G>A 125;0|4 N N - 2 109292280 109292280 T C snp intronic LIMS1 Lims1 ENSG00000169756 LIM zinc finger domain containing 1 chr2:109150857-109303702 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5. E5.5 null embryos exhibit decreased cell proliferation and excessive cell death. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0007569;cell aging;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034329;cell junction assembly;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045184;establishment of protein localization;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IMP|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMS1 https://www.ncbi.nlm.nih.gov/omim/?term=602567 http://www.informatics.jax.org/searchtool/Search.do?query=LIMS1&submit=Quick%0D%12560ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS1 rs7584953 0.866014 0 0 1 0 0 intronic intronic intronic LIMS1 LIMS1 ENSG00000169756 Na Na Na Na Na Na Het;T>C 1093;47|41 Het;T>C 875;39|34 Hom;T>C 2851;0|91 N N - 2 109292979 109292979 T C snp intronic LIMS1 Lims1 ENSG00000169756 LIM zinc finger domain containing 1 chr2:109150857-109303702 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5. E5.5 null embryos exhibit decreased cell proliferation and excessive cell death. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0007569;cell aging;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034329;cell junction assembly;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045184;establishment of protein localization;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IMP|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMS1 https://www.ncbi.nlm.nih.gov/omim/?term=602567 http://www.informatics.jax.org/searchtool/Search.do?query=LIMS1&submit=Quick%0D%12560ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS1 rs62151380 0.433307 0 0 1 0 0 intronic intronic intronic LIMS1 LIMS1 ENSG00000169756 Na Na Na Na Na Na Het;T>C 145;14|8 Ref Hom;T>C 349;0|13 N N - 2 109294588 109294588 A T snp ncRNA_intronic LIMS1-AS1 rs7585366 0.507588 0 0 1 0 0 intronic intronic ncRNA_intronic LIMS1 LIMS1 ENSG00000228763 Na Na Na Na Na Na Het;A>T 1892;55|75 Ref Hom;A>T 2845;0|89 N N - 2 109510937 109510937 G A snp UTR3 *2426C>T EDAR Edar ENSG00000135960 ectodysplasin A receptor chr2:109510927-109605828 This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] Iron; Arteries; Alzheimer Disease; Tunica Media; Type 2 Diabetes| edema | rosiglitazone; null Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands. TNFs bind their physiological receptors GO:0001942;hair follicle development;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0008544;epidermis development;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042346;positive regulation of NF-kappaB import into nucleus;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IBA|GO:0043473;pigmentation;IEA|GO:0046330;positive regulation of JNK cascade;IBA|GO:0060662;salivary gland cavitation;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045177;apical part of cell;IEA GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EDAR https://www.uniprot.org/uniprot/Q9UNE0 https://hpo.jax.org/app/browse/search?q=EDAR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604095 http://www.informatics.jax.org/searchtool/Search.do?query=EDAR&submit=Quick%0D%7258ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDAR rs1478517 0.531749 0 0 1 0 0 UTR3 UTR3 UTR3 EDAR(NM_022336:c.*2426C>T) EDAR(uc002teq.4:c.*2426C>T,uc010fjn.3:c.*2426C>T,uc010yws.2:c.*2426C>T) ENSG00000135960(ENST00000258443:c.*2426C>T,ENST00000409271:c.*2426C>T,ENST00000376651:c.*2426C>T) Na Na Na Na Na Na Het;G>A 692;24|27 Ref Hom;G>A 927;0|39 N N - 2 110049235 110049235 G A snp intronic SH3RF3 Sh3rf3 ENSG00000172985 SH3 domain containing ring finger 3 chr2:109745804-110262207 Tobacco Use Disorder GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3RF3 http://www.informatics.jax.org/searchtool/Search.do?query=SH3RF3&submit=Quick%0D%13271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3RF3 rs7558217 0.406949 0 0 1 0 0 intronic intronic intronic SH3RF3 SH3RF3 ENSG00000172985 Na Na Na Na Na Na Het;G>A 210;6|9 Ref Hom;G>A 521;0|17 N N - 2 110053209 110053209 T G snp intronic SH3RF3 Sh3rf3 ENSG00000172985 SH3 domain containing ring finger 3 chr2:109745804-110262207 Tobacco Use Disorder GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3RF3 http://www.informatics.jax.org/searchtool/Search.do?query=SH3RF3&submit=Quick%0D%13271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3RF3 rs7370446 0.45627 0 0 1 0 0 intronic intronic intronic SH3RF3 SH3RF3 ENSG00000172985 Na Na Na Na Na Na Het;T>G 272;4|8 Ref Hom;T>G 263;0|7 N N - 2 110449816 110449816 T C snp intergenic SOWAHC Sowahc ENSG00000198142 sosondowah ankyrin repeat domain family member C chr2:110371911-110376563 Body Height; Hip http://www.genecards.org/index.php?path=/Search/keyword/SOWAHC http://www.informatics.jax.org/searchtool/Search.do?query=SOWAHC&submit=Quick%0D%16828ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOWAHC rs58941962 0.661342 0 0 1 0 0 intergenic intergenic intergenic SOWAHC(dist=73252),RGPD6(dist=100519) SOWAHC(dist=73252),RGPD6(dist=100519) ENSG00000231099(dist=24237),ENSG00000233307(dist=40492) Na Na Na Na Na Na Het;T>C 75;2|4 Ref Hom;T>C 135;0|5 N N - 2 11300732 11300732 C T snp intronic PQLC3 Pqlc3 ENSG00000162976 PQ loop repeat containing 3 chr2:11295324-11319000 GO:0006488;dolichol-linked oligosaccharide biosynthetic process;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PQLC3 http://www.informatics.jax.org/searchtool/Search.do?query=PQLC3&submit=Quick%0D%10847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC3 rs2271622 0.382188 0.3917 0.4522 1 0 0 intronic intronic intronic PQLC3 PQLC3 ENSG00000162976 Na Na Na Na Na Na Het;C>T 1785;145|87 Ref Hom;C>T 6705;2|250 N N - 2 11300869 11300869 T C snp UTR3 *36T>C PQLC3 Pqlc3 ENSG00000162976 PQ loop repeat containing 3 chr2:11295324-11319000 GO:0006488;dolichol-linked oligosaccharide biosynthetic process;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PQLC3 http://www.informatics.jax.org/searchtool/Search.do?query=PQLC3&submit=Quick%0D%10847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC3 rs6432182 0.933107 0.9107 0.9045 1 0 0 UTR3 intronic UTR3 PQLC3(NM_001282712:c.*36T>C) PQLC3 ENSG00000162976(ENST00000428481:c.*36T>C) Na Na Na Na Na Na Het;T>C 1187;53|52 Het;T>C 630;36|29 Hom;T>C 2374;0|85 N N - 2 11300927 11300930 TAAA T indel intronic PQLC3 Pqlc3 ENSG00000162976 PQ loop repeat containing 3 chr2:11295324-11319000 GO:0006488;dolichol-linked oligosaccharide biosynthetic process;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PQLC3 http://www.informatics.jax.org/searchtool/Search.do?query=PQLC3&submit=Quick%0D%10847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC3 rs59329825 0 0 0 1 0 0 intronic intronic intronic PQLC3 PQLC3 ENSG00000162976 Na Na Na Na Na Na Het;-AAA 269;12|14 Ref Hom;-AAA 891;0|25 N N - 2 11318477 11318477 C T snp UTR3 *523C>T PQLC3 Pqlc3 ENSG00000162976 PQ loop repeat containing 3 chr2:11295324-11319000 GO:0006488;dolichol-linked oligosaccharide biosynthetic process;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PQLC3 http://www.informatics.jax.org/searchtool/Search.do?query=PQLC3&submit=Quick%0D%10847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PQLC3 rs3911110 0.802716 0 0 1 0 0 UTR3 UTR3 UTR3 PQLC3(NM_001282710:c.*523C>T,NM_152391:c.*523C>T,NM_001282711:c.*648C>T,NM_001282712:c.*656C>T) PQLC3(uc002rbc.3:c.*523C>T,uc010yjk.2:c.*523C>T) ENSG00000162976(ENST00000295083:c.*523C>T) Na Na Na Na Na Na Het;C>T 1316;69|56 Het;C>T 1385;79|64 Hom;C>T 4263;0|143 N N - 2 11359031 11359031 G T snp intronic ROCK2 Rock2 ENSG00000134318 Rho associated coiled-coil containing protein kinase 2 chr2:11319887-11488456 The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008] Hepatopulmonary Syndrome|Liver Cirrhosis; breast cancer; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; Hypertension; Pre-Eclampsia; Death, Sudden, Cardiac; HIV Mice homozygous for disruptions in this genes tend to die before birth; those that survive are small. Hemorrhaging occurs in the placenta, at the tips of hind limb buds and occasionally the tail. Subsequent development is normal and the size deficit is made up. They are fertile as adults. RHO GTPases Activate ROCKs GO:0000910;cytokinesis;NAS|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006939;smooth muscle contraction;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IMP|GO:0007266;Rho protein signal transduction;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0016310;phosphorylation;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0030155;regulation of cell adhesion;TAS|GO:0030866;cortical actin cytoskeleton organization;IGI|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035509;negative regulation of myosin-light-chain-phosphatase activity;IGI|GO:0035556;intracellular signal transduction;IEA|GO:0039694;viral RNA genome replication;IMP|GO:0042752;regulation of circadian rhythm;ISS|GO:0045616;regulation of keratinocyte differentiation;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048511;rhythmic process;IEA|GO:0051298;centrosome duplication;IMP|GO:0051492;regulation of stress fiber assembly;TAS|GO:0051893;regulation of focal adhesion assembly;TAS|GO:0071394;cellular response to testosterone stimulus;IMP|GO:0090002;establishment of protein localization to plasma membrane;IGI|GO:1903140;regulation of establishment of endothelial barrier;IGI|GO:1903347;negative regulation of bicellular tight junction assembly;IGI|GO:2000114;regulation of establishment of cell polarity;TAS|GO:2000145;regulation of cell motility;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0046872;metal ion binding;IEA|GO:0072518;Rho-dependent protein serine/threonine kinase activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/ROCK2 https://www.uniprot.org/uniprot/O75116 https://www.ncbi.nlm.nih.gov/omim/?term=604002 http://www.informatics.jax.org/searchtool/Search.do?query=ROCK2&submit=Quick%0D%6957ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ROCK2 rs9808228 0.941294 0 0 1 0 0 intronic intronic intronic ROCK2 ROCK2 ENSG00000134318 Na Na Na Na Na Na Het;G>T 256;10|10 Het;G>T 347;7|13 Hom;G>T 476;0|17 N N - 2 113953657 113953657 A C snp intronic PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs4849169 0.441094 0 0 1 0 0 intronic intronic intronic PSD4 PSD4 ENSG00000125637 Na Na Na Na Na Na Het;A>C 641;13|24 Het;A>C 678;10|27 Hom;A>C 670;0|24 N N - 2 113953952 113953952 T C snp intronic PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs4848318 0.441494 0 0 1 0 0 intronic intronic intronic PSD4 PSD4 ENSG00000125637 Na Na Na Na Na Na Het;T>C 544;31|28 Het;T>C 713;38|33 Hom;T>C 1395;0|53 N N - 2 113953973 113953973 A AT indel intronic PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs71385890 0.440096 0 0 1 0 0 intronic intronic intronic PSD4 PSD4 ENSG00000125637 Na Na Na Na Na Na Het;+T 767;19|21 Het;+T 772;25|22 Hom;+T 1707;0|41 N N - 2 113953974 113953977 GACA G indel intronic PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs10579377 0.440096 0 0 1 0 0 intronic intronic intronic PSD4 PSD4 ENSG00000125637 Na Na Na Na Na Na Het;-ACA 767;19|20 Het;-ACA 772;25|19 Hom;-ACA 1707;0|37 N N - 2 113954006 113954006 A G snp intronic PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs2241978 0.441494 0 0 1 0 0 intronic intronic intronic PSD4 PSD4 ENSG00000125637 Na Na Na Na Na Na Het;A>G 253;12|12 Het;A>G 260;9|9 Hom;A>G 458;0|14 N N - 2 113955074 113955074 G A snp nonsynonymous SNV G13A V5M aliphatic,hydrophobic,neutral hydrophobic,neutral PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs902695 0.440895 0 0.5550 1 0 0 intronic exonic intronic PSD4 PSD4 ENSG00000125637 Na nonsynonymous SNV Na Na PSD4:uc010yxs.2:exon1:c.G13A:p.V5M, Na Het;G>A 282;25|13 Het;G>A 340;22|16 Hom;G>A 580;0|22 N N - 2 113956371 113956371 G C snp synonymous SNV G2679C T893T polar,hydrophilic,neutral polar,hydrophilic,neutral PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs2276561 0.441494 0.3758 0.4869 1 0 0 exonic exonic exonic PSD4 PSD4 ENSG00000125637 synonymous SNV synonymous SNV unknown PSD4:NM_012455:exon15:c.G2679C:p.T893T, PSD4:uc002tje.3:exon15:c.G2589C:p.T863T,PSD4:uc010yxs.2:exon3:c.G369C:p.T123T,PSD4:uc002tjc.3:exon15:c.G2679C:p.T893T,PSD4:uc002tjh.3:exon1:c.G42C:p.T14T,PSD4:uc002tjg.3:exon2:c.G177C:p.T59T,PSD4:uc002tjf.3:exon13:c.G1542C:p.T514T,PSD4:uc002tjd.3:exon14:c.G1539C:p.T513T, UNKNOWN Het;G>C 668;41|34 Het;G>C 715;43|34 Hom;G>C 1760;0|62 N N - 2 113956821 113956821 C G snp intronic PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs2305133 0.441294 0.3254 0.5872 1 0 0 intronic intronic intronic PSD4 PSD4 ENSG00000125637 Na Na Na Na Na Na Het;C>G 576;17|23 Het;C>G 147;10|7 Hom;C>G 1328;0|47 N N - 2 113973632 113973632 G A snp UTR3 *2478C>T PAX8 Pax8 ENSG00000125618 paired box 8 chr2:113973574-114036527 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] thyroid cancer; Cleft Lip|Cleft Palate; Congenital Hypothyroidism|Cretinism; hypothyroidism, congenital; Glucose; Tobacco Use Disorder Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. GO:0001655;urogenital system development;ISS|GO:0001656;metanephros development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001822;kidney development;IEP|GO:0001823;mesonephros development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006790;sulfur compound metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0030154;cell differentiation;IEA|GO:0030878;thyroid gland development;IEP|GO:0038194;thyroid-stimulating hormone signaling pathway;IEA|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042981;regulation of apoptotic process;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048793;pronephros development;ISS|GO:0071371;cellular response to gonadotropin stimulus;IDA|GO:0071599;otic vesicle development;IEP|GO:0072050;S-shaped body morphogenesis;IEA|GO:0072073;kidney epithelium development;IEA|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072164;mesonephric tubule development;IEA|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072278;metanephric comma-shaped body morphogenesis;IEP|GO:0072284;metanephric S-shaped body morphogenesis;IEP|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000611;positive regulation of thyroid hormone generation;IMP|GO:2000612;regulation of thyroid-stimulating hormone secretion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;ISS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0004996;thyroid-stimulating hormone receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAX8 https://www.uniprot.org/uniprot/Q06710 https://hpo.jax.org/app/browse/search?q=PAX8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=167415 http://www.informatics.jax.org/searchtool/Search.do?query=PAX8&submit=Quick%0D%5800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX8 rs2019137 0.455671 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic PAX8(NM_003466:c.*2478C>T,NM_013992:c.*2555C>T,NM_013953:c.*2555C>T,NM_013952:c.*2555C>T) PAX8(uc010yxt.2:c.*2478C>T,uc010yxu.2:c.*2555C>T,uc002tjm.3:c.*2555C>T,uc002tjn.3:c.*2555C>T) ENSG00000189223 Na Na Na Na Na Na Het;G>A 342;19|16 Het;G>A 260;14|13 Hom;G>A 1045;0|37 N N - 2 113973964 113973964 T C snp UTR3 *2146A>G PAX8 Pax8 ENSG00000125618 paired box 8 chr2:113973574-114036527 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] thyroid cancer; Cleft Lip|Cleft Palate; Congenital Hypothyroidism|Cretinism; hypothyroidism, congenital; Glucose; Tobacco Use Disorder Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. GO:0001655;urogenital system development;ISS|GO:0001656;metanephros development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001822;kidney development;IEP|GO:0001823;mesonephros development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006790;sulfur compound metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0030154;cell differentiation;IEA|GO:0030878;thyroid gland development;IEP|GO:0038194;thyroid-stimulating hormone signaling pathway;IEA|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042981;regulation of apoptotic process;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048793;pronephros development;ISS|GO:0071371;cellular response to gonadotropin stimulus;IDA|GO:0071599;otic vesicle development;IEP|GO:0072050;S-shaped body morphogenesis;IEA|GO:0072073;kidney epithelium development;IEA|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072164;mesonephric tubule development;IEA|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072278;metanephric comma-shaped body morphogenesis;IEP|GO:0072284;metanephric S-shaped body morphogenesis;IEP|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000611;positive regulation of thyroid hormone generation;IMP|GO:2000612;regulation of thyroid-stimulating hormone secretion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;ISS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0004996;thyroid-stimulating hormone receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAX8 https://www.uniprot.org/uniprot/Q06710 https://hpo.jax.org/app/browse/search?q=PAX8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=167415 http://www.informatics.jax.org/searchtool/Search.do?query=PAX8&submit=Quick%0D%5800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX8 rs895412 0.454273 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic PAX8(NM_003466:c.*2146A>G,NM_013992:c.*2223A>G,NM_013953:c.*2223A>G,NM_013952:c.*2223A>G) PAX8(uc010yxt.2:c.*2146A>G,uc010yxu.2:c.*2223A>G,uc002tjm.3:c.*2223A>G,uc002tjn.3:c.*2223A>G) ENSG00000189223 Na Na Na Na Na Na Het;T>C 1222;42|55 Het;T>C 840;55|42 Hom;T>C 2853;0|107 N N - 2 113994417 113994417 G T snp ncRNA_intronic PAX8-AS1 rs1110839 0.476637 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic PAX8-AS1 LOC654433,PAX8 ENSG00000189223 Na Na Na Na Na Na Het;G>T 341;13|13 Het;G>T 342;6|11 Hom;G>T 367;0|11 N N - 2 113995668 113995668 C T snp synonymous SNV C12T D4D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) LOC654433 rs6734596 0.472444 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic PAX8-AS1 LOC654433 ENSG00000189223 Na synonymous SNV Na Na LOC654433:uc002tjp.3:exon2:c.C12T:p.D4D, Na Het;C>T 131;12|7 Het;C>T 146;22|10 Hom;C>T 428;0|11 N N - 2 114035923 114035923 A G snp intronic PAX8 Pax8 ENSG00000125618 paired box 8 chr2:113973574-114036527 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] thyroid cancer; Cleft Lip|Cleft Palate; Congenital Hypothyroidism|Cretinism; hypothyroidism, congenital; Glucose; Tobacco Use Disorder Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. GO:0001655;urogenital system development;ISS|GO:0001656;metanephros development;IEA|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001822;kidney development;IEP|GO:0001823;mesonephros development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;IEP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006790;sulfur compound metabolic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;IEP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0030154;cell differentiation;IEA|GO:0030878;thyroid gland development;IEP|GO:0038194;thyroid-stimulating hormone signaling pathway;IEA|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042981;regulation of apoptotic process;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048793;pronephros development;ISS|GO:0071371;cellular response to gonadotropin stimulus;IDA|GO:0071599;otic vesicle development;IEP|GO:0072050;S-shaped body morphogenesis;IEA|GO:0072073;kidney epithelium development;IEA|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072164;mesonephric tubule development;IEA|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072278;metanephric comma-shaped body morphogenesis;IEP|GO:0072284;metanephric S-shaped body morphogenesis;IEP|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000611;positive regulation of thyroid hormone generation;IMP|GO:2000612;regulation of thyroid-stimulating hormone secretion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;ISS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0004996;thyroid-stimulating hormone receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAX8 https://www.uniprot.org/uniprot/Q06710 https://hpo.jax.org/app/browse/search?q=PAX8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=167415 http://www.informatics.jax.org/searchtool/Search.do?query=PAX8&submit=Quick%0D%5800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX8 rs1867763 0.345647 0.3778 0.3342 1 0 0 intronic intronic intronic PAX8 PAX8 ENSG00000125618 Na Na Na Na Na Na Het;A>G 332;28|16 Het;A>G 446;33|22 Hom;A>G 1109;0|42 N N - 2 114272485 114272485 T A snp ncRNA_intronic LINC01961 rs2748001 0.491414 0 0 1 0 0 intergenic intergenic ncRNA_intronic FOXD4L1(dist=13758),PGM5P3-AS1(dist=12660) FOXD4L1(dist=13758),AY343891(dist=25147) ENSG00000234148 Na Na Na Na Na Na Het;T>A 350;3|12 Het;T>A 67;5|3 Hom;T>A 228;0|7 N N - 2 114300288 114300288 C T snp upstream AY343891 rs6720860 0.196286 0 0 1 0 0 upstream upstream ncRNA_intronic PGM5P3-AS1,PGM5P4-AS1 AY343891 ENSG00000225398 Na Na Na Na Na Na Het;C>T 1533;34|65 Het;C>T 936;36|39 Hom;C>T 2991;2|109 N N - 2 114335753 114335753 T G snp ncRNA_exonic FAM138B rs3877497 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FAM138B FAM138B ENSG00000226516 Na Na Na Na Na Na Het;T>G 749;120|39 Het;T>G 567;92|29 Hom;T>G 1602;2|52 N N - 2 114341247 114341247 T G snp ncRNA_exonic WASH2P rs2418693 0.555911 0 0 1 0 0 ncRNA_exonic intergenic upstream WASH2P FAM138B(dist=4818),WASH2P(dist=12398) ENSG00000146556,ENSG00000221055 Na Na Na Na Na Na Het;T>G 14208;116|472 Het;T>G 10811;84|355 Hom;T>G 23196;0|602 N N - 2 114353635 114353635 A G snp ncRNA_exonic WASH2P rs2747965 0 0 0 1 0 0 ncRNA_intronic upstream ncRNA_exonic WASH2P WASH2P ENSG00000146556 Na Na Na Na Na Na Het;A>G 1663;86|72 Het;A>G 905;66|41 Hom;A>G 2283;2|80 N N - 2 114354918 114354918 T C snp ncRNA_intronic WASH2P rs79979019 0 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic WASH2P WASH2P ENSG00000146556 Na Na Na Na Na Na Het;T>C 358;28|13 Het;T>C 221;13|9 Hom;T>C 592;0|19 N N - 2 114357350 114357350 T C snp ncRNA_exonic DDX11L2 rs67465876 0.564097 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic DDX11L2 DDX11L2(uc010yxx.2:c.*205A>G) ENSG00000236397 Na Na Na Na Na Na Het;T>C 7736;176|330 Het;T>C 4989;120|211 Hom;T>C 10185;2|367 N N - 2 114357862 114357862 C T snp ncRNA_exonic DDX11L2 rs7340163 0.365615 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;C>T 1359;111|58 Het;C>T 514;98|31 Hom;C>T 1652;0|48 N N - 2 114357926 114357928 CCT C indel ncRNA_exonic DDX11L2 rs149878741 0.190096 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;-CT 2905;85|77 Het;-CT 1905;91|53 Hom;-CT 5875;2|134 N N - 2 114358139 114358140 TA T indel ncRNA_exonic DDX11L2 rs200663867 0 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;-A 3271;121|108 Het;-A 1853;112|65 Hom;-A 5546;0|150 N N - 2 114358432 114358435 TGGG T indel ncRNA_intronic DDX11L2 rs200093365 0 0 0.0478 1 0 0 ncRNA_intronic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;-GGG 9819;269|259 Het;-GGG 6020;203|163 Hom;-GGG 17034;6|393 N N - 2 114358437 114358437 C T snp ncRNA_intronic DDX11L2 rs573567276 0.189097 0 0.0483 1 0 0 ncRNA_intronic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;C>T 9839;260|248 Het;C>T 6067;192|155 Hom;C>T 17041;6|372 N N - 2 114358438 114358439 CA C indel ncRNA_intronic DDX11L2 rs771012120 0 0 0.0490 1 0 0 ncRNA_intronic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;-A 9836;263|244 Het;-A 6064;190|156 Hom;-A 17033;6|370 N N - 2 114358772 114358772 G A snp ncRNA_intronic DDX11L2 rs11897134 0.190296 0 0.3184 1 0 0 ncRNA_intronic intronic ncRNA_intronic DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;G>A 2448;118|113 Het;G>A 1807;91|90 Hom;G>A 4527;2|179 N N - 2 114359070 114359070 G A snp ncRNA_exonic DDX11L2 rs146209431 0.190495 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic DDX11L2 DDX11L2(uc010yxx.2:c.-244C>T) ENSG00000236397 Na Na Na Na Na Na Het;G>A 2160;100|93 Het;G>A 1305;95|65 Hom;G>A 3801;2|137 N N - 2 114359909 114359909 A G snp upstream DDX11L2 rs11893733 0.230431 0 0 1 0 0 ncRNA_intronic upstream upstream DDX11L2 DDX11L2 ENSG00000236397 Na Na Na Na Na Na Het;A>G 32;4|2 Ref Hom;A>G 95;0|4 N N - 2 114361018 114361018 G A snp ncRNA_intronic DDX11L2 rs142973140 0.226837 0 0 1 0 0 ncRNA_intronic intergenic intergenic DDX11L2 DDX11L2(dist=1865),RPL23AP7(dist=7798) ENSG00000236397(dist=1874),ENSG00000240356(dist=7061) Na Na Na Na Na Na Het;G>A 41;4|2 Ref Hom;G>A 152;0|4 N N - 2 114361035 114361035 A AACCCTC indel ncRNA_intronic DDX11L2 Na 0 0 0 1 0 0 ncRNA_intronic intergenic intergenic DDX11L2 DDX11L2(dist=1882),RPL23AP7(dist=7781) ENSG00000236397(dist=1891),ENSG00000240356(dist=7044) Na Na Na Na Na Na Het;+ACCCTC 74;5|3 Ref Hom;+ACCCTC 303;0|7 N N - 2 114361253 114361253 C T snp ncRNA_exonic DDX11L2 rs4849253 0.1877 0 0 1 0 0 ncRNA_exonic intergenic intergenic DDX11L2 DDX11L2(dist=2100),RPL23AP7(dist=7563) ENSG00000236397(dist=2109),ENSG00000240356(dist=6826) Na Na Na Na Na Na Het;C>T 428;21|20 Het;C>T 265;11|14 Hom;C>T 821;0|31 N N - 2 114363959 114363959 G GAGT indel intergenic DDX11L2 rs3977021 0.072484 0 0 1 0 0 intergenic intergenic intergenic DDX11L2(dist=2665),RPL23AP7(dist=4857) DDX11L2(dist=4806),RPL23AP7(dist=4857) ENSG00000236397(dist=4815),ENSG00000240356(dist=4120) Na Na Na Na Na Na Het;+AGT 47;14|3 Het;+AGT 168;16|7 Hom;+AGT 808;0|18 N N - 2 114366384 114366384 A T snp intergenic DDX11L2 rs144468477 0.213259 0 0 1 0 0 intergenic intergenic intergenic DDX11L2(dist=5090),RPL23AP7(dist=2432) DDX11L2(dist=7231),RPL23AP7(dist=2432) ENSG00000236397(dist=7240),ENSG00000240356(dist=1695) Na Na Na Na Na Na Het;A>T 285;9|11 Het;A>T 211;7|8 Hom;A>T 164;0|5 N N - 2 114369771 114369771 C T snp ncRNA_exonic RPL23AP7 rs145906086 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RPL23AP7 RPL23AP7 ENSG00000240356 Na Na Na Na Na Na Het;C>T 762;31|39 Het;C>T 710;28|35 Hom;C>T 1275;0|49 N N - 2 114386338 114386338 G A snp intronic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs149500718 0.206869 0 0.2599 1 0 0 intronic intronic intronic RABL2A RABL2A ENSG00000144134 Na Na Na Na Na Na Het;G>A 78;10|5 Ref Hom;G>A 144;0|6 N N - 2 114399145 114399145 G A snp intronic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs73955042 0.213458 0 0 1 0 0 intronic intronic intronic RABL2A RABL2A ENSG00000144134 Na Na Na Na Na Na Het;G>A 732;23|26 Het;G>A 887;31|36 Hom;G>A 1633;4|60 N N - 2 114425685 114425685 G T snp ncRNA_intronic AL078621.2 rs11682527 0.249002 0 0 1 0 0 intergenic intergenic ncRNA_intronic RABL2A(dist=24710),SLC35F5(dist=44684) RABL2A(dist=24710),U6(dist=13003) ENSG00000175509 Na Na Na Na Na Na Het;G>T 682;27|20 Het;G>T 600;19|19 Hom;G>T 823;0|21 N N - 2 114425697 114425699 CCA C indel ncRNA_intronic AL078621.2 rs145623386 0.224441 0 0 1 0 0 intergenic intergenic ncRNA_intronic RABL2A(dist=24722),SLC35F5(dist=44670) RABL2A(dist=24722),U6(dist=12989) ENSG00000175509 Na Na Na Na Na Na Het;-CA 626;23|17 Het;-CA 370;16|11 Hom;-CA 683;0|16 N N - 2 114464756 114464759 CATT C indel intergenic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs10586101 0.204273 0 0 1 0 0 intergenic intergenic intergenic RABL2A(dist=63781),SLC35F5(dist=5610) U6(dist=25962),SLC35F5(dist=7174) ENSG00000227359(dist=3101),ENSG00000115084(dist=5610) Na Na Na Na Na Na Het;-ATT 1525;33|40 Het;-ATT 1207;33|33 Hom;-ATT 4541;0|105 N N - 2 114466431 114466432 CT C indel intergenic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs3214782 0.204073 0 0 1 0 0 intergenic intergenic intergenic RABL2A(dist=65456),SLC35F5(dist=3937) U6(dist=27637),SLC35F5(dist=5501) ENSG00000227359(dist=4776),ENSG00000115084(dist=3937) Na Na Na Na Na Na Het;-T 3282;121|127 Het;-T 2503;81|95 Hom;-T 9088;2|286 N N - 2 114466994 114466994 T C snp intergenic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs935644 0.379393 0 0 1 0 0 intergenic intergenic intergenic RABL2A(dist=66019),SLC35F5(dist=3375) U6(dist=28200),SLC35F5(dist=4939) ENSG00000227359(dist=5339),ENSG00000115084(dist=3375) Na Na Na Na Na Na Het;T>C 2551;81|108 Het;T>C 2090;104|96 Hom;T>C 5821;0|214 N N - 2 114469090 114469091 TA T indel intergenic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs11298773 0.199281 0 0 1 0 0 intergenic intergenic intergenic RABL2A(dist=68115),SLC35F5(dist=1278) U6(dist=30296),SLC35F5(dist=2842) ENSG00000227359(dist=7435),ENSG00000115084(dist=1278) Na Na Na Na Na Na Het;-A 1292;87|66 Het;-A 2143;62|98 Hom;-A 4720;1|177 N N - 2 114469135 114469135 C G snp intergenic RABL2A Rabl2 ENSG00000144134 RAB, member of RAS oncogene family like 2A chr2:114384806-114400973 This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2A https://www.uniprot.org/uniprot/Q9UBK7 https://www.ncbi.nlm.nih.gov/omim/?term=605412 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2A&submit=Quick%0D%8571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2A rs6731402 0.374201 0 0 1 0 0 intergenic intergenic intergenic RABL2A(dist=68160),SLC35F5(dist=1234) U6(dist=30341),SLC35F5(dist=2798) ENSG00000227359(dist=7480),ENSG00000115084(dist=1234) Na Na Na Na Na Na Het;C>G 1638;98|69 Het;C>G 2342;79|95 Hom;C>G 5923;1|212 N N - 2 114469374 114469374 G GAAGC indel downstream SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs10626009 0.372404 0 0 1 0 0 downstream intergenic downstream SLC35F5 U6(dist=30580),SLC35F5(dist=2559) ENSG00000115084 Na Na Na Na Na Na Het;+AAGC 1665;74|46 Het;+AAGC 2000;40|50 Hom;+AAGC 3984;0|90 N N - 2 114470778 114470778 G A snp UTR3 *2017C>T SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs2290108 0.577676 0 0 1 0 0 UTR3 intergenic UTR3 SLC35F5(NM_025181:c.*2017C>T) U6(dist=31984),SLC35F5(dist=1155) ENSG00000115084(ENST00000245680:c.*2017C>T) Na Na Na Na Na Na Het;G>A 2247;96|98 Het;G>A 2693;101|123 Hom;G>A 6540;0|236 N N - 2 114471061 114471061 T C snp UTR3 *1734A>G SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs2290107 0.196086 0 0 1 0 0 UTR3 downstream UTR3 SLC35F5(NM_025181:c.*1734A>G) SLC35F5 ENSG00000115084(ENST00000245680:c.*1734A>G) Na Na Na Na Na Na Het;T>C 2040;77|78 Het;T>C 2212;83|96 Hom;T>C 4903;6|180 N N - 2 114471346 114471346 A AAGAG indel UTR3 *1449T>CTCTT SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs35554028 0.289537 0 0 1 0 0 UTR3 downstream UTR3 SLC35F5(NM_025181:c.*1449T>CTCTT) SLC35F5 ENSG00000115084(ENST00000245680:c.*1449T>CTCTT) Na Na Na Na Na Na Het;+AGAG 406;26|14 Het;+AGAG 374;34|17 Hom;+AGAG 2256;4|62 N N - 2 114471782 114471782 C T snp UTR3 *1013G>A SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs10514810 0.161142 0 0 1 0 0 UTR3 downstream UTR3 SLC35F5(NM_025181:c.*1013G>A) SLC35F5 ENSG00000115084(ENST00000245680:c.*1013G>A) Na Na Na Na Na Na Het;C>T 690;32|27 Het;C>T 823;53|39 Hom;C>T 2695;0|102 N N - 2 114471932 114471932 G C snp UTR3 *863C>G SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs10938 0.383586 0 0 1 0 0 UTR3 downstream UTR3 SLC35F5(NM_025181:c.*863C>G) SLC35F5 ENSG00000115084(ENST00000245680:c.*863C>G,ENST00000409106:c.*747C>G) Na Na Na Na Na Na Het;G>C 706;28|26 Het;G>C 311;17|12 Hom;G>C 1438;0|52 N N - 2 114476582 114476582 C A snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs6741521 0.373802 0 0 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;C>A 70;4|3 Het;C>A 45;1|2 Hom;C>A 174;0|6 N N - 2 114480812 114480812 A AAAC indel intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs112237880 0.586661 0.6986 0.6869 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;+AAC 356;26|12 Het;+AAC 545;16|15 Hom;+AAC 1446;0|35 N N - 2 114480881 114480881 A G snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs73955056 0.197684 0 0 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;A>G 34;5|2 Het;A>G 85;3|4 Hom;A>G 298;0|8 N N - 2 114486880 114486881 GA G indel intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs3841578 0.197284 0 0 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;-A 331;15|17 Het;-A 118;10|8 Hom;-A 545;0|22 N N - 2 114486907 114486907 T C snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs4849269 0.398363 0 0 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;T>C 598;19|23 Het;T>C 536;20|20 Hom;T>C 1023;0|33 N N - 2 11448958 11448958 A T snp ncRNA_exonic AC018463.1 rs10205944 0 0 0 1 0 0 intronic intronic ncRNA_exonic ROCK2 ROCK2 ENSG00000230154 Na Na Na Na Na Na Het;A>T 1572;54|70 Het;A>T 1061;34|49 Hom;A>T 3742;0|136 N N - 2 114492135 114492135 C T snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs2305254 0.398363 0.5210 0.4798 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;C>T 164;13|9 Het;C>T 467;15|21 Hom;C>T 967;0|36 N N - 2 114493524 114493524 C T snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs10199704 0.398562 0 0 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;C>T 115;6|6 Het;C>T 189;7|9 Hom;C>T 528;0|16 N N - 2 114501242 114501242 T C snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs3748907 0.178115 0.2202 0.2240 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;T>C 1071;51|46 Het;T>C 931;44|42 Hom;T>C 3488;2|120 N N - 2 114513386 114513386 C T snp intronic SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs7578249 0.409944 0 0.4890 1 0 0 intronic intronic intronic SLC35F5 SLC35F5 ENSG00000115084 Na Na Na Na Na Na Het;C>T 312;18|12 Het;C>T 234;4|8 Hom;C>T 771;0|26 N N - 2 114514098 114514098 A C snp UTR5 -112T>G SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs7592689 0.407947 0 0 1 0 0 UTR5 UTR5 UTR5 SLC35F5(NM_025181:c.-112T>G) SLC35F5(uc002tku.1:c.-112T>G,uc002tkv.3:c.-645T>G) ENSG00000115084(ENST00000245680:c.-112T>G,ENST00000409106:c.-645T>G,ENST00000409342:c.-645T>G) Na Na Na Na Na Na Het;A>C 923;32|37 Het;A>C 416;43|23 Hom;A>C 1643;0|58 N N - 2 114514298 114514298 C T snp UTR5 -312G>A SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs6732182 0.172724 0 0 1 0 0 UTR5 UTR5 UTR5 SLC35F5(NM_025181:c.-312G>A) SLC35F5(uc002tku.1:c.-312G>A) ENSG00000115084(ENST00000245680:c.-312G>A) Na Na Na Na Na Na Het;C>T 305;8|15 Het;C>T 70;4|3 Hom;C>T 597;0|22 N N - 2 114514338 114514338 T G snp UTR5 -352A>C SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs6542171 0.408347 0 0 1 0 0 UTR5 UTR5 UTR5 SLC35F5(NM_025181:c.-352A>C) SLC35F5(uc002tku.1:c.-352A>C) ENSG00000115084(ENST00000245680:c.-352A>C) Na Na Na Na Na Na Het;T>G 284;4|10 Het;T>G 38;3|2 Hom;T>G 484;0|12 N N - 2 114514391 114514391 T G snp UTR5 -405A>C SLC35F5 Slc35f5 ENSG00000115084 solute carrier family 35 member F5 chr2:114462588-114514400 GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35F5 https://www.uniprot.org/uniprot/Q8WV83 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35F5&submit=Quick%0D%4536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35F5 rs3890789 0.615815 0 0 1 0 0 UTR5 UTR5 UTR5 SLC35F5(NM_025181:c.-405A>C) SLC35F5(uc002tku.1:c.-405A>C) ENSG00000115084(ENST00000245680:c.-405A>C) Na Na Na Na Na Na Het;T>G 118;3|4 Ref Hom;T>G 186;0|5 N N - 2 114588784 114588784 C T snp ncRNA_exonic LOC101060091 rs11675908 0.327875 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101060091 SLC35F5(dist=74384),ACTR3(dist=58727) ENSG00000228857 Na Na Na Na Na Na Het;C>T 727;32|32 Het;C>T 385;40|20 Hom;C>T 1612;0|57 N N - 2 114589155 114589155 C T snp ncRNA_exonic LOC101060091 rs4849288 0.328474 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101060091 SLC35F5(dist=74755),ACTR3(dist=58356) ENSG00000228857 Na Na Na Na Na Na Het;C>T 250;11|11 Het;C>T 289;26|17 Hom;C>T 579;0|23 N N - 2 114715533 114715533 G A snp UTR3 *501G>A ACTR3 Actr3 ENSG00000115091 ARP3 actin related protein 3 homolog chr2:114647537-114720173 The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] Cholesterol, HDL; Interleukin-6; Triglycerides; Blood Pressure Determination; Echocardiography Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. Clathrin-mediated endocytosis GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0008356;asymmetric cell division;IEA|GO:0016344;meiotic chromosome movement towards spindle pole;IEA|GO:0030030;cell projection organization;IEA|GO:0033206;meiotic cytokinesis;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0060271;cilium assembly;IMP|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTR3 https://www.uniprot.org/uniprot/P61158 https://www.ncbi.nlm.nih.gov/omim/?term=604222 http://www.informatics.jax.org/searchtool/Search.do?query=ACTR3&submit=Quick%0D%4538ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR3 rs6642 0.340256 0 0 1 0 0 UTR3 UTR3 UTR3 ACTR3(NM_005721:c.*501G>A,NM_001277140:c.*501G>A) ACTR3(uc002tkx.2:c.*501G>A,uc010yyc.2:c.*501G>A,uc010yyd.2:c.*501G>A) ENSG00000115091(ENST00000263238:c.*501G>A) Na Na Na Na Na Na Het;G>A 1084;40|48 Het;G>A 1353;54|60 Hom;G>A 3791;2|139 N N - 2 115112929 115112940 TATCTATCTATC T indel intergenic LINC01191 rs200792304 0 0 0 1 0 0 intergenic intergenic intergenic LINC01191(dist=348042),DPP10(dist=86959) LOC440900(dist=348042),DPP10(dist=86959) ENSG00000238520(dist=74177),ENSG00000222923(dist=64762) Na Na Na Na Na Na Het;-ATCTATCTATC 692;34|21 Het;-ATCTATCTATC 547;23|17 Hom;-ATCTATCTATC 840;0|20 N N - 2 115270835 115270835 A C snp intronic DPP10 Dpp10 ENSG00000175497 dipeptidyl peptidase like 10 chr2:115199876-116603328 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/DPP10 https://www.ncbi.nlm.nih.gov/omim/?term=608209 http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10 rs10196477 0.230831 0 0 1 0 0 intronic intronic intronic DPP10 DPP10 ENSG00000175497 Na Na Na Na Na Na Het;A>C 1184;45|44 Het;A>C 1159;41|42 Hom;A>C 1873;0|58 N N - 2 115590859 115590859 T TA indel ncRNA_intronic BC033566 rs11371234 0.722843 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic DPP10 BC033566 ENSG00000231538 Na Na Na Na Na Na Het;+A 49;2|4 Ref Hom;+A 34;0|4 N N - 2 115639142 115639142 C CATCT indel intronic DPP10 Dpp10 ENSG00000175497 dipeptidyl peptidase like 10 chr2:115199876-116603328 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/DPP10 https://www.ncbi.nlm.nih.gov/omim/?term=608209 http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10 rs368885347 0 0 0 1 0 0 intronic intronic intronic DPP10 DPP10 ENSG00000175497 Na Na Na Na Na Na Het;+ATCT 44;1|2 Ref Hom;+ATCT 377;0|10 N N - 2 116849707 116849707 T G snp intergenic DPP10 Dpp10 ENSG00000175497 dipeptidyl peptidase like 10 chr2:115199876-116603328 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/DPP10 https://www.ncbi.nlm.nih.gov/omim/?term=608209 http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10 rs7588105 0.291134 0 0 1 0 0 intergenic intergenic intergenic DPP10(dist=247381),DDX18(dist=1722548) DPP10(dist=247381),DQ571524(dist=931448) ENSG00000175497(dist=246379),ENSG00000271667(dist=595087) Na Na Na Na Na Na Het;T>G 461;48|29 Het;T>G 395;50|22 Hom;T>G 1705;2|64 N N - 2 117000072 117000072 C T snp intergenic DPP10 Dpp10 ENSG00000175497 dipeptidyl peptidase like 10 chr2:115199876-116603328 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/DPP10 https://www.ncbi.nlm.nih.gov/omim/?term=608209 http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10 rs1505761 0.897564 0 0 1 0 0 intergenic intergenic intergenic DPP10(dist=397746),DDX18(dist=1572183) DPP10(dist=397746),DQ571524(dist=781083) ENSG00000175497(dist=396744),ENSG00000271667(dist=444722) Na Na Na Na Na Na Het;C>T 51;5|5 Het;C>T 91;10|5 Hom;C>T 534;0|21 N N - 2 11774324 11774324 G A snp nonsynonymous SNV G2053A D685N polar,hydrophilic,charged(-) polar,hydrophilic,neutral GREB1 Greb1 ENSG00000196208 growth regulation by estrogen in breast cancer 1 chr2:11674242-11782914 This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Celiac Disease| GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/GREB1 https://www.ncbi.nlm.nih.gov/omim/?term=611736 http://www.informatics.jax.org/searchtool/Search.do?query=GREB1&submit=Quick%0D%16288ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GREB1 rs2304402 0.404952 0.4785 0.4485 0.08 1 13 exonic exonic exonic GREB1 GREB1 ENSG00000196208 nonsynonymous SNV nonsynonymous SNV unknown GREB1:NM_014668:exon29:c.G5059A:p.D1687N, GREB1:uc002rbp.1:exon12:c.G2053A:p.D685N,GREB1:uc002rbk.1:exon29:c.G5059A:p.D1687N, UNKNOWN Het;G>A 1463;69|67 Ref Hom;G>A 3599;0|132 N N - 2 117850119 117850130 GAAAATCTCTCA G indel intergenic DPP10 Dpp10 ENSG00000175497 dipeptidyl peptidase like 10 chr2:115199876-116603328 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/DPP10 https://www.ncbi.nlm.nih.gov/omim/?term=608209 http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10 rs146749599 0.488818 0 0 1 0 0 intergenic intergenic intergenic DPP10(dist=1247793),DDX18(dist=722125) TRNA_Gln(dist=67539),U7(dist=47161) ENSG00000228898(dist=65519),ENSG00000239185(dist=47161) Na Na Na Na Na Na Het;-AAAATCTCTCA 401;8|11 Het;-AAAATCTCTCA 174;7|6 Hom;-AAAATCTCTCA 685;0|16 N N - 2 118100004 118100004 T C snp intergenic DPP10 Dpp10 ENSG00000175497 dipeptidyl peptidase like 10 chr2:115199876-116603328 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] schizophrenia | autism; obesity|asthma; asthma; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Metabolism; Type 2 Diabetes| edema | rosiglitazone; Thyrotropin; Respiratory Function Tests; Body Height; Hemoglobin A, Glycosylated; Blood Pressure; Tobacco Use Disorder; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lipoproteins, HDL; Stroke; Neutrophils; Bipolar Disorder; bipolar disorder; Asthma|Respiratory Sounds; Cholesterol, HDL; respiratory syncytial virus bronchiolitis; Cholesterol; Inflammation; C-Reactive Protein; Asthma|; Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006508;proteolysis;IEA|GO:0065009;regulation of molecular function;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008236;serine-type peptidase activity;IEA|GO:0015459;potassium channel regulator activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/DPP10 https://www.ncbi.nlm.nih.gov/omim/?term=608209 http://www.informatics.jax.org/searchtool/Search.do?query=DPP10&submit=Quick%0D%13709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP10 rs67405062 0.209265 0 0 1 0 0 intergenic intergenic intergenic DPP10(dist=1497678),DDX18(dist=472251) U7(dist=202653),DDX18(dist=472251) ENSG00000227291(dist=160866),ENSG00000238207(dist=415135) Na Na Na Na Na Na Het;T>C 947;26|38 Het;T>C 726;22|33 Hom;T>C 1385;1|48 N N - 2 118764527 118764527 T A snp ncRNA_intronic AC009303.2 rs4849654 0.966853 0 0 1 0 0 intronic intronic ncRNA_intronic CCDC93 CCDC93 ENSG00000235066 Na Na Na Na Na Na Het;T>A 324;1|10 Het;T>A 109;2|4 Hom;T>A 240;0|7 N N - 2 119915249 119915249 T C snp synonymous SNV A597G V199V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C1QL2 C1ql2 ENSG00000144119 complement C1q like 2 chr2:119913819-119916465 Lymphocytes GO:0051259;protein oligomerization;IEA GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/C1QL2 https://www.uniprot.org/uniprot/Q7Z5L3 https://www.ncbi.nlm.nih.gov/omim/?term=614330 http://www.informatics.jax.org/searchtool/Search.do?query=C1QL2&submit=Quick%0D%8568ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QL2 rs7556873 0.586462 0.7067 0.6894 1 0 0 exonic exonic exonic C1QL2 C1QL2 ENSG00000144119 synonymous SNV synonymous SNV unknown C1QL2:NM_182528:exon1:c.A597G:p.V199V, C1QL2:uc002tlo.2:exon1:c.A597G:p.V199V, UNKNOWN Het;T>C 1202;44|48 Het;T>C 856;35|37 Hom;T>C 1786;0|62 N N - 2 120438523 120438523 A G snp nonsynonymous SNV A94G I32V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM177 Tmem177 ENSG00000144120 transmembrane protein 177 chr2:120436743-120444083 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM177 https://www.uniprot.org/uniprot/Q53S58 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM177&submit=Quick%0D%8569ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM177 rs13011768 0.778155 0.7715 0.8300 0.08 1 13 exonic exonic exonic TMEM177 TMEM177 ENSG00000144120 nonsynonymous SNV nonsynonymous SNV unknown TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V,TMEM177:NM_001105198:exon2:c.A94G:p.I32V, TMEM177:uc021vnk.1:exon1:c.A94G:p.I32V,TMEM177:uc002tmd.2:exon2:c.A94G:p.I32V,TMEM177:uc002tmc.1:exon2:c.A94G:p.I32V,TMEM177:uc010flh.3:exon2:c.A94G:p.I32V,TMEM177:uc010flg.1:exon2:c.A94G:p.I32V, UNKNOWN Het;A>G 2278;116|98 Het;A>G 1913;112|94 Hom;A>G 5335;1|201 N N - 2 120439230 120439230 C G snp nonsynonymous SNV C801G D267E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) TMEM177 Tmem177 ENSG00000144120 transmembrane protein 177 chr2:120436743-120444083 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM177 https://www.uniprot.org/uniprot/Q53S58 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM177&submit=Quick%0D%8569ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM177 rs1983406 0.778155 0.7711 0.8300 0.08 1 13 exonic exonic exonic TMEM177 TMEM177 ENSG00000144120 nonsynonymous SNV nonsynonymous SNV unknown TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E,TMEM177:NM_001105198:exon2:c.C801G:p.D267E, TMEM177:uc021vnk.1:exon1:c.C801G:p.D267E,TMEM177:uc002tmd.2:exon2:c.C801G:p.D267E,TMEM177:uc002tmc.1:exon2:c.C801G:p.D267E,TMEM177:uc010flg.1:exon2:c.C801G:p.D267E, UNKNOWN Het;C>G 1895;97|79 Het;C>G 1675;65|67 Hom;C>G 3680;0|128 N N - 2 120439459 120439459 C A snp UTR3 *94C>A TMEM177 Tmem177 ENSG00000144120 transmembrane protein 177 chr2:120436743-120444083 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM177 https://www.uniprot.org/uniprot/Q53S58 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM177&submit=Quick%0D%8569ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM177 rs4849797 0.78135 0 0 1 0 0 UTR3 UTR3 UTR3 TMEM177(NM_030577:c.*94C>A,NM_001105198:c.*94C>A,NM_001105199:c.*94C>A) TMEM177(uc010flg.1:c.*94C>A,uc002tmc.1:c.*94C>A,uc002tmd.2:c.*94C>A) ENSG00000144120(ENST00000424086:c.*94C>A,ENST00000401466:c.*94C>A,ENST00000272521:c.*94C>A) Na Na Na Na Na Na Het;C>A 376;11|16 Het;C>A 208;11|7 Hom;C>A 454;0|13 N N - 2 120689905 120689905 A G snp intronic PTPN4 Ptpn4 ENSG00000088179 protein tyrosine phosphatase, non-receptor type 4 chr2:120517207-120741394 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. Toll Like Receptor 4 (TLR4) Cascade GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN4 https://www.uniprot.org/uniprot/P29074 https://www.ncbi.nlm.nih.gov/omim/?term=176878 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN4&submit=Quick%0D%1990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN4 rs2292361 0.577077 0 0 1 0 0 intronic intronic intronic PTPN4 PTPN4 ENSG00000088179 Na Na Na Na Na Na Het;A>G 107;5|5 Het;A>G 193;8|6 Hom;A>G 470;0|12 N N - 2 120702972 120702972 T A snp intronic PTPN4 Ptpn4 ENSG00000088179 protein tyrosine phosphatase, non-receptor type 4 chr2:120517207-120741394 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. Toll Like Receptor 4 (TLR4) Cascade GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN4 https://www.uniprot.org/uniprot/P29074 https://www.ncbi.nlm.nih.gov/omim/?term=176878 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN4&submit=Quick%0D%1990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN4 rs7600358 0.724241 0 0 1 0 0 intronic intronic intronic PTPN4 PTPN4 ENSG00000088179 Na Na Na Na Na Na Het;T>A 70;1|3 Ref Hom;T>A 80;0|3 N N - 2 120703842 120703842 A G snp intronic PTPN4 Ptpn4 ENSG00000088179 protein tyrosine phosphatase, non-receptor type 4 chr2:120517207-120741394 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. Toll Like Receptor 4 (TLR4) Cascade GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN4 https://www.uniprot.org/uniprot/P29074 https://www.ncbi.nlm.nih.gov/omim/?term=176878 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN4&submit=Quick%0D%1990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN4 rs2289581 0.724641 0 0 1 0 0 intronic intronic intronic PTPN4 PTPN4 ENSG00000088179 Na Na Na Na Na Na Het;A>G 35;5|2 Het;A>G 41;2|3 Hom;A>G 142;0|4 N N - 2 120704164 120704164 A AT indel unknown PTPN4 Ptpn4 ENSG00000088179 protein tyrosine phosphatase, non-receptor type 4 chr2:120517207-120741394 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. Toll Like Receptor 4 (TLR4) Cascade GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN4 https://www.uniprot.org/uniprot/P29074 https://www.ncbi.nlm.nih.gov/omim/?term=176878 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN4&submit=Quick%0D%1990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN4 rs3214717 0.607628 0.5856 0.6607 1 0 0 intronic intronic exonic PTPN4 PTPN4 ENSG00000088179 Na Na unknown Na Na UNKNOWN Het;+T 2938;76|77 Het;+T 3123;104|85 Hom;+T 9219;1|213 N N - 2 120704166 120704166 G T snp unknown PTPN4 Ptpn4 ENSG00000088179 protein tyrosine phosphatase, non-receptor type 4 chr2:120517207-120741394 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. Toll Like Receptor 4 (TLR4) Cascade GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN4 https://www.uniprot.org/uniprot/P29074 https://www.ncbi.nlm.nih.gov/omim/?term=176878 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN4&submit=Quick%0D%1990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN4 rs2289580 0.609625 0 0.6609 0.22 2 9 intronic intronic exonic PTPN4 PTPN4 ENSG00000088179 Na Na unknown Na Na UNKNOWN Het;G>T 2947;76|79 Het;G>T 3132;104|81 Hom;G>T 9229;1|209 N N - 2 120718322 120718322 A G snp intronic PTPN4 Ptpn4 ENSG00000088179 protein tyrosine phosphatase, non-receptor type 4 chr2:120517207-120741394 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. Toll Like Receptor 4 (TLR4) Cascade GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN4 https://www.uniprot.org/uniprot/P29074 https://www.ncbi.nlm.nih.gov/omim/?term=176878 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN4&submit=Quick%0D%1990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN4 rs12618050 0.579073 0 0 1 0 0 intronic intronic intronic PTPN4 PTPN4 ENSG00000088179 Na Na Na Na Na Na Het;A>G 306;19|10 Het;A>G 329;4|13 Hom;A>G 1001;0|33 N N - 2 122042750 122042750 A T snp UTR5 -65T>A TFCP2L1 Tfcp2l1 ENSG00000115112 transcription factor CP2 like 1 chr2:121974163-122042783 Mice homozygous for either a knock-out or a gene-trapped allele display a phenotype characterized by postnatal growth retardation, renal hypoplasia, impaired maturation of the ducts in the salivary gland and kidney, abnormal composition of saliva and urine, and postnatal lethality. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0002070;epithelial cell maturation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006694;steroid biosynthetic process;TAS|GO:0007028;cytoplasm organization;IEA|GO:0007431;salivary gland development;IEA|GO:0007565;female pregnancy;TAS|GO:0008340;determination of adult lifespan;IEA|GO:0045927;positive regulation of growth;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TFCP2L1 https://www.uniprot.org/uniprot/Q9NZI6 https://www.ncbi.nlm.nih.gov/omim/?term=609785 http://www.informatics.jax.org/searchtool/Search.do?query=TFCP2L1&submit=Quick%0D%4541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFCP2L1 rs13415738 0.477636 0.4284 0 1 0 0 UTR5 UTR5 UTR5 TFCP2L1(NM_014553:c.-65T>A) TFCP2L1(uc002tmx.3:c.-65T>A,uc010flr.3:c.-65T>A) ENSG00000115112(ENST00000263707:c.-65T>A) Na Na Na Na Na Na Het;A>T 86;13|6 Het;A>T 108;7|6 Hom;A>T 470;0|18 N N - 2 12306744 12306744 G C snp ncRNA_intronic AK001558 rs6730691 0.630391 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100506457 AK001558 ENSG00000224184 Na Na Na Na Na Na Het;G>C 612;13|19 Het;G>C 381;7|12 Hom;G>C 676;0|18 N N - 2 123825607 123825607 A G snp ncRNA_intronic LINC01826 rs4848824 0.514976 0 0 1 0 0 intergenic intergenic ncRNA_intronic TSN(dist=1300179),CNTNAP5(dist=957257) TSN(dist=1300179),7SK(dist=801226) ENSG00000232740 Na Na Na Na Na Na Het;A>G 121;12|5 Het;A>G 206;9|7 Hom;A>G 794;0|21 N N - 2 12388519 12388519 A G snp ncRNA_intronic AK001558 rs1157516 0.925319 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100506457 AK001558 ENSG00000224184 Na Na Na Na Na Na Het;A>G 123;11|6 Het;A>G 312;8|11 Hom;A>G 553;0|19 N N - 2 124125481 124125481 C T snp intergenic TSN Tsn ENSG00000211460 translin chr2:122494679-122525429 This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Erectile Dysfunction; Attention Deficit Disorder with Hyperactivity; Cholesterol; Heart Rate; Stroke; Audiometry, Pure-Tone; Maximal Midexpiratory Flow Rate; Triglycerides; Varicose Veins; Life Expectancy; Waist-Hip Ratio; Erythrocyte Indices; Respiratory Function Tests; monocyte chemoattractant protein 1 (66-77) Inactivation of this gene results in reduced female fertility, growth defects, and abnormalities related to activity and dexterity. Small interfering RNA (siRNA) biogenesis GO:0006310;DNA recombination;TAS|GO:0016070;RNA metabolic process;IEA|GO:0030422;production of siRNA involved in RNA interference;TAS|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003677;DNA binding;TAS|GO:0003697;single-stranded DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0003729;mRNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSN https://www.ncbi.nlm.nih.gov/omim/?term=600575 http://www.informatics.jax.org/searchtool/Search.do?query=TSN&submit=Quick%0D%17771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSN rs62167134 0.390375 0 0 1 0 0 intergenic intergenic intergenic TSN(dist=1600053),CNTNAP5(dist=657383) TSN(dist=1600053),7SK(dist=501352) ENSG00000232740(dist=294424),ENSG00000226708(dist=75361) Na Na Na Na Na Na Het;C>T 350;20|17 Het;C>T 152;34|12 Hom;C>T 1504;0|57 N N - 2 12598838 12598854 ATGTGTGTGTGTGTGTG A indel ncRNA_intronic AK001558 rs142824224 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100506457 AK001558 ENSG00000224184 Na Na Na Na Na Na Het;-TGTGTGTGTGTGTGTG 185;6|6 Ref Hom;-TGTGTGTGTGTGTGTG 342;1|6 N N - 2 126171750 126171750 G A snp intergenic CNTNAP5 Cntnap5a ENSG00000155052 contactin associated protein like 5 chr2:124782864-125672864 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008] bipolar disorder; Stroke; autism; Fibrinogen; null; tonometry; Echocardiography; Body Mass Index; Tobacco Use Disorder; Risperidone; Cell Adhesion Molecules; Hemoglobin A, Glycosylated; Cholesterol, LDL; Brain; response to antipsychotic treatment; Body Weight Changes; Blood Pressure; Tunica Media; Triglycerides; Intelligence; Iron; E-Selectin GO:0007155;cell adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP5 https://www.uniprot.org/uniprot/Q8WYK1 https://www.ncbi.nlm.nih.gov/omim/?term=610519 http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP5&submit=Quick%0D%9834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP5 rs975151 0.377995 0 0 1 0 0 intergenic intergenic intergenic CNTNAP5(dist=498796),GYPC(dist=1241761) CNTNAP5(dist=498887),GYPC(dist=1241761) ENSG00000201853(dist=285260),ENSG00000235491(dist=296796) Na Na Na Na Na Na Het;G>A 274;8|10 Het;G>A 431;16|14 Hom;G>A 1034;0|34 N N - 2 126172030 126172030 C G snp intergenic CNTNAP5 Cntnap5a ENSG00000155052 contactin associated protein like 5 chr2:124782864-125672864 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008] bipolar disorder; Stroke; autism; Fibrinogen; null; tonometry; Echocardiography; Body Mass Index; Tobacco Use Disorder; Risperidone; Cell Adhesion Molecules; Hemoglobin A, Glycosylated; Cholesterol, LDL; Brain; response to antipsychotic treatment; Body Weight Changes; Blood Pressure; Tunica Media; Triglycerides; Intelligence; Iron; E-Selectin GO:0007155;cell adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP5 https://www.uniprot.org/uniprot/Q8WYK1 https://www.ncbi.nlm.nih.gov/omim/?term=610519 http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP5&submit=Quick%0D%9834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP5 rs1436296 0.674121 0 0 1 0 0 intergenic intergenic intergenic CNTNAP5(dist=499076),GYPC(dist=1241481) CNTNAP5(dist=499167),GYPC(dist=1241481) ENSG00000201853(dist=285540),ENSG00000235491(dist=296516) Na Na Na Na Na Na Het;C>G 151;4|5 Het;C>G 298;5|9 Hom;C>G 400;0|10 N N - 2 127511132 127511132 A G snp intergenic GYPC Gypc ENSG00000136732 glycophorin C (Gerbich blood group) chr2:127413509-127454246 Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] malaria; Heart Failure; Sodium; Hemoglobins; Erythrocyte Count; Waist-Hip Ratio; ovalocytosis and malaria susceptibility; Tunica Media Cell surface interactions at the vascular wall GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IBA|GO:0050900;leukocyte migration;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030863;cortical cytoskeleton;IDA GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GYPC https://www.uniprot.org/uniprot/P04921 https://hpo.jax.org/app/browse/search?q=GYPC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=110750 http://www.informatics.jax.org/searchtool/Search.do?query=GYPC&submit=Quick%0D%7393ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GYPC rs4352186 0.685104 0 0 1 0 0 intergenic intergenic intergenic GYPC(dist=56881),BIN1(dist=294467) GYPC(dist=56881),BIN1(dist=294467) ENSG00000206963(dist=50614),ENSG00000237524(dist=145340) Na Na Na Na Na Na Het;A>G 44;2|3 Ref Hom;A>G 142;0|4 N N - 2 127953054 127953054 A C snp synonymous SNV T576G T192T polar,hydrophilic,neutral polar,hydrophilic,neutral CYP27C1 ENSG00000186684 cytochrome P450 family 27 subfamily C member 1 chr2:127941696-127977654 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008] Varicose Veins; Waist-Hip Ratio GO:0055114;oxidation-reduction process;IEA GO:0016020;membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP27C1 http://www.informatics.jax.org/searchtool/Search.do?query=CYP27C1&submit=Quick%0D%15693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP27C1 rs7568070 0.279353 0.3308 0.2697 1 0 0 exonic exonic exonic CYP27C1 CYP27C1 ENSG00000186684 synonymous SNV synonymous SNV unknown CYP27C1:NM_001001665:exon5:c.T576G:p.T192T, CYP27C1:uc002tod.2:exon5:c.T576G:p.T192T,CYP27C1:uc021vnn.1:exon5:c.T576G:p.T192T, UNKNOWN Het;A>C 417;37|22 Het;A>C 793;27|35 Hom;A>C 1758;0|64 N N - 2 128176040 128176040 A T snp synonymous SNV A18T R6R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PROC Proc ENSG00000115718 protein C, inactivator of coagulation factors Va and VIIIa chr2:128176003-128186822 This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009] thromboembolism, venous; protein C; Hereditary protein C deficiency; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Waist-Hip Ratio; Venous Thrombosis; thrombosis, deep vein; Cardiovascular Diseases|Thrombosis; circulating protein C levels and thrombotic risk; blood pressure, arterial sepsis; plasma protein C levels and thrombotic risk; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Protein C Deficiency|Venous Thrombosis; Multiple Organ Failure|Sepsis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Thromboembolism|Thrombophilia|Venous Thrombosis; thromboembolism, venous, pregnancy-related; Thrombosis; Body Height; warfarin sensitivity; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Protein C; thromboembolism, venous; Thrombophilia|Venous Thrombosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chronic renal failure|Kidney Failure, Chronic; venous thrombosis; Acute Coronary Syndrome; Cardiovascular Diseases|; warfarin response; atherosclerosis; null Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice. Post-translational protein phosphorylation GO:0001889;liver development;IEA|GO:0006465;signal peptide processing;TAS|GO:0006508;proteolysis;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0017187;peptidyl-glutamic acid carboxylation;TAS|GO:0030195;negative regulation of blood coagulation;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044537;regulation of circulating fibrinogen levels;IEA|GO:0050728;negative regulation of inflammatory response;IMP|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS|GO:1903142;positive regulation of establishment of endothelial barrier;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS GO:0004252;serine-type endopeptidase activity;IMP|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PROC https://www.uniprot.org/uniprot/P04070 https://hpo.jax.org/app/browse/search?q=PROC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612283 http://www.informatics.jax.org/searchtool/Search.do?query=PROC&submit=Quick%0D%4650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROC rs1799810 0.393171 0 0.4514 1 0 0 UTR5 exonic exonic PROC(NM_000312:c.-1479A>T) PROC ENSG00000115718 Na synonymous SNV unknown Na PROC:uc010yzk.2:exon1:c.A18T:p.R6R,PROC:uc002tol.3:exon1:c.A18T:p.R6R,PROC:uc010yzi.2:exon1:c.A18T:p.R6R, UNKNOWN Het;A>T 2308;113|110 Het;A>T 2477;108|116 Hom;A>T 3974;0|152 N N - 2 128350965 128350965 C T snp intronic MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs4662744 0.607428 0 0 1 0 0 intronic intronic intronic MYO7B MYO7B ENSG00000169994 Na Na Na Na Na Na Het;C>T 152;1|6 Het;C>T 128;1|6 Hom;C>T 205;0|7 N N - 2 128369896 128369896 A G snp unknown MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs777435 0.661542 0 0.7034 1 0 0 intronic intronic exonic MYO7B MYO7B ENSG00000169994 Na Na unknown Na Na UNKNOWN Het;A>G 99;4|4 Ref Hom;A>G 117;0|4 N N - 2 128382859 128382859 C T snp intronic MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs2245297 0.670128 0 0 1 0 0 intronic intronic intronic MYO7B MYO7B ENSG00000169994 Na Na Na Na Na Na Het;C>T 197;5|8 Ref Hom;C>T 270;0|8 N N - 2 128392547 128392547 A C snp intronic MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs4662750 0.6877 0 0 1 0 0 intronic intronic intronic MYO7B MYO7B ENSG00000169994 Na Na Na Na Na Na Het;A>C 331;14|11 Het;A>C 376;7|11 Hom;A>C 566;0|15 N N - 2 128393261 128393261 T C snp intronic MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs2255178 0.67512 0.6878 0.6618 1 0 0 intronic intronic intronic MYO7B MYO7B ENSG00000169994 Na Na Na Na Na Na Het;T>C 993;41|39 Het;T>C 1182;35|50 Hom;T>C 2003;0|69 N N - 2 128394877 128394877 C CT indel frameshift substitution 968_968delinsCT MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs3217355 0.31869 0.6554 0.2969 1 0 0 intronic exonic intronic MYO7B MYO7B ENSG00000169994 Na frameshift substitution Na Na MYO7B:uc002tos.2:exon6:c.968_968delinsCT, Na Het;+T 537;40|20 Het;+T 1198;21|36 Hom;+T 2025;0|53 N N - 2 128396807 128396807 A G snp UTR3 *49T>C LIMS2 Lims2 ENSG00000072163 LIM zinc finger domain containing 2 chr2:128395956-128439360 This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2W Homozygous null mice are viable and fertile with no gross abnormalities. Mice homozygous for a different targeted allele exhibit decreased fractional shortening and increased area affected following myocardial infarct. Cell-extracellular matrix interactions GO:0016337;single organismal cell-cell adhesion;IEA|GO:0034329;cell junction assembly;TAS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:2000178;negative regulation of neural precursor cell proliferation;IEA|GO:2000346;negative regulation of hepatocyte proliferation;IEA|GO:2001046;positive regulation of integrin-mediated signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMS2 https://www.uniprot.org/uniprot/Q7Z4I7 https://hpo.jax.org/app/browse/search?q=LIMS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607908 http://www.informatics.jax.org/searchtool/Search.do?query=LIMS2&submit=Quick%0D%1424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS2 rs891515 0.584665 0.6001 0.5354 1 0 0 UTR3 UTR3 UTR3 LIMS2(NM_001256542:c.*49T>C,NM_001136037:c.*49T>C,NM_001161403:c.*49T>C,NM_017980:c.*49T>C,NM_001161404:c.*49T>C) LIMS2(uc002tov.3:c.*49T>C,uc002tow.4:c.*49T>C,uc002tox.3:c.*49T>C,uc010fmb.3:c.*49T>C,uc002toy.3:c.*49T>C,uc010yzm.2:c.*49T>C,uc002tpa.3:c.*49T>C,uc002toz.3:c.*49T>C,uc002tpb.3:c.*49T>C) ENSG00000072163(ENST00000426981:c.*49T>C,ENST00000324938:c.*49T>C,ENST00000409754:c.*49T>C,ENST00000409286:c.*49T>C,ENST00000410011:c.*49T>C,ENST00000409808:c.*49T>C,ENST00000355119:c.*49T>C,ENST00000409455:c.*49T>C,ENST00000410038:c.*49T>C,ENST00000545738:c.*49T>C,ENST00000413578:c.*285T>C,ENST00000409254:c.*49T>C) Na Na Na Na Na Na Het;A>G 979;29|40 Het;A>G 433;28|21 Hom;A>G 1553;0|56 N N - 2 128400608 128400608 C T snp synonymous SNV G471A K157K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LIMS2 Lims2 ENSG00000072163 LIM zinc finger domain containing 2 chr2:128395956-128439360 This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2W Homozygous null mice are viable and fertile with no gross abnormalities. Mice homozygous for a different targeted allele exhibit decreased fractional shortening and increased area affected following myocardial infarct. Cell-extracellular matrix interactions GO:0016337;single organismal cell-cell adhesion;IEA|GO:0034329;cell junction assembly;TAS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:2000178;negative regulation of neural precursor cell proliferation;IEA|GO:2000346;negative regulation of hepatocyte proliferation;IEA|GO:2001046;positive regulation of integrin-mediated signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIMS2 https://www.uniprot.org/uniprot/Q7Z4I7 https://hpo.jax.org/app/browse/search?q=LIMS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607908 http://www.informatics.jax.org/searchtool/Search.do?query=LIMS2&submit=Quick%0D%1424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIMS2 rs4662751 0.545128 0.5064 0.6034 1 0 0 exonic exonic exonic LIMS2 LIMS2 ENSG00000072163 synonymous SNV synonymous SNV unknown LIMS2:NM_017980:exon5:c.G471A:p.K157K,LIMS2:NM_001161404:exon5:c.G384A:p.K128K,LIMS2:NM_001136037:exon6:c.G465A:p.K155K,LIMS2:NM_001161403:exon5:c.G399A:p.K133K, LIMS2:uc002toy.3:exon5:c.G384A:p.K128K,LIMS2:uc002tpb.3:exon5:c.G384A:p.K128K,LIMS2:uc002tpa.3:exon5:c.G399A:p.K133K,LIMS2:uc002toz.3:exon7:c.G384A:p.K128K,LIMS2:uc002tox.3:exon5:c.G471A:p.K157K,LIMS2:uc010yzm.2:exon6:c.G465A:p.K155K,LIMS2:uc010fmb.3:exon4:c.G129A:p.K43K, UNKNOWN Het;C>T 1280;67|57 Het;C>T 926;49|50 Hom;C>T 2641;0|96 N N - 2 128608271 128608272 GA G indel intronic POLR2D Polr2d ENSG00000144231 RNA polymerase II subunit D chr2:128603840-128615731 This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008] bladder cancer Signaling by FGFR2 IIIa TM GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016070;RNA metabolic process;TAS|GO:0031990;mRNA export from nucleus in response to heat stress;IBA|GO:0034402;recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex;IBA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045948;positive regulation of translational initiation;IBA|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005665;DNA-directed RNA polymerase II, core complex;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0003697;single-stranded DNA binding;IBA|GO:0003727;single-stranded RNA binding;IBA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0031369;translation initiation factor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/POLR2D https://www.uniprot.org/uniprot/O15514 https://www.ncbi.nlm.nih.gov/omim/?term=606017 http://www.informatics.jax.org/searchtool/Search.do?query=POLR2D&submit=Quick%0D%8585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2D rs34858843 0.561502 0 0.5730 1 0 0 intronic intronic intronic POLR2D POLR2D ENSG00000144231 Na Na Na Na Na Na Het;-A 189;20|13 Het;-A 94;11|5 Hom;-A 680;0|18 N N - 2 128608290 128608290 T C snp intronic POLR2D Polr2d ENSG00000144231 RNA polymerase II subunit D chr2:128603840-128615731 This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008] bladder cancer Signaling by FGFR2 IIIa TM GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016070;RNA metabolic process;TAS|GO:0031990;mRNA export from nucleus in response to heat stress;IBA|GO:0034402;recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex;IBA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045948;positive regulation of translational initiation;IBA|GO:0050434;positive regulation of viral transcription;TAS|GO:0060964;regulation of gene silencing by miRNA;TAS GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005665;DNA-directed RNA polymerase II, core complex;IDA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0003697;single-stranded DNA binding;IBA|GO:0003727;single-stranded RNA binding;IBA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0031369;translation initiation factor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/POLR2D https://www.uniprot.org/uniprot/O15514 https://www.ncbi.nlm.nih.gov/omim/?term=606017 http://www.informatics.jax.org/searchtool/Search.do?query=POLR2D&submit=Quick%0D%8585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR2D rs6713679 0.564097 0.5658 0.5435 1 0 0 intronic intronic intronic POLR2D POLR2D ENSG00000144231 Na Na Na Na Na Na Het;T>C 395;12|15 Het;T>C 128;11|5 Hom;T>C 618;0|15 N N - 2 128772310 128772310 C T snp intronic SAP130 Sap130 ENSG00000136715 Sin3A associated protein 130 chr2:128698791-128785694 SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder Mice homozygous for a transposon insertion are viable and fertile. NoRC negatively regulates rRNA expression GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0070822;Sin3-type complex;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAP130 https://www.uniprot.org/uniprot/Q9H0E3 https://www.ncbi.nlm.nih.gov/omim/?term=609697 http://www.informatics.jax.org/searchtool/Search.do?query=SAP130&submit=Quick%0D%7388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAP130 rs35312230 0.349042 0 0 1 0 0 intronic intronic intronic SAP130 SAP130 ENSG00000136715 Na Na Na Na Na Na Het;C>T 702;22|28 Het;C>T 572;24|22 Hom;C>T 1289;0|44 N N - 2 128934400 128934400 T C snp synonymous SNV T3552C T1184T polar,hydrophilic,neutral polar,hydrophilic,neutral UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs2290111 0.664337 0.6994 0.6240 1 0 0 exonic exonic exonic UGGT1 UGGT1 ENSG00000136731 synonymous SNV synonymous SNV unknown UGGT1:NM_020120:exon32:c.T3552C:p.T1184T, UGGT1:uc002tpr.3:exon32:c.T3480C:p.T1160T,UGGT1:uc002tps.3:exon32:c.T3552C:p.T1184T, UNKNOWN Het;T>C 432;42|23 Het;T>C 772;39|38 Hom;T>C 2584;0|97 N N - 2 128936000 128936000 T C snp intronic UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs2290110 0.433906 0.4227 0.4448 1 0 0 intronic intronic intronic UGGT1 UGGT1 ENSG00000136731 Na Na Na Na Na Na Het;T>C 488;66|28 Het;T>C 543;53|26 Hom;T>C 2148;0|74 N N - 2 128936171 128936174 TATG T indel intronic UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs10542002 0.433307 0.4221 0.4453 1 0 0 intronic intronic intronic UGGT1 UGGT1 ENSG00000136731 Na Na Na Na Na Na Het;-ATG 3318;96|89 Het;-ATG 3621;84|94 Hom;-ATG 6803;0|155 N N - 2 128939817 128939817 G A snp synonymous SNV G4197A K1399K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs1699 0.427915 0.4187 0.4422 1 0 0 exonic exonic exonic UGGT1 UGGT1 ENSG00000136731 synonymous SNV synonymous SNV unknown UGGT1:NM_020120:exon37:c.G4197A:p.K1399K, UGGT1:uc002tpr.3:exon37:c.G4125A:p.K1375K,UGGT1:uc002tps.3:exon37:c.G4197A:p.K1399K, UNKNOWN Het;G>A 1948;76|87 Het;G>A 1315;51|66 Hom;G>A 3913;0|143 N N - 2 128944424 128944424 T C snp intronic UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs744265 0.531949 0.5837 0.5718 1 0 0 intronic intronic intronic UGGT1 UGGT1 ENSG00000136731 Na Na Na Na Na Na Het;T>C 1301;40|48 Het;T>C 865;33|37 Hom;T>C 2609;0|90 N N - 2 128944576 128944576 C A snp intronic UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs748760 0.435703 0 0 1 0 0 intronic intronic intronic UGGT1 UGGT1 ENSG00000136731 Na Na Na Na Na Na Het;C>A 43;2|2 Ref Hom;C>A 135;0|4 N N - 2 128947505 128947505 G A snp UTR3 *189G>A UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs11542865 0.433506 0 0 1 0 0 UTR3 UTR3 UTR3 UGGT1(NM_020120:c.*189G>A) UGGT1(uc002tps.3:c.*189G>A,uc002tpr.3:c.*189G>A) ENSG00000136731(ENST00000375990:c.*189G>A,ENST00000376723:c.*4897G>A,ENST00000259253:c.*189G>A,ENST00000418197:c.*189G>A) Na Na Na Na Na Na Het;G>A 1767;85|79 Het;G>A 1809;83|78 Hom;G>A 4109;0|152 N N - 2 128947895 128947895 T C snp UTR3 *579T>C UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs9973651 0.435903 0 0 1 0 0 UTR3 UTR3 UTR3 UGGT1(NM_020120:c.*579T>C) UGGT1(uc002tps.3:c.*579T>C,uc002tpr.3:c.*579T>C) ENSG00000136731(ENST00000375990:c.*579T>C,ENST00000376723:c.*5287T>C,ENST00000259253:c.*579T>C) Na Na Na Na Na Na Het;T>C 3180;95|90 Het;T>C 1744;106|80 Hom;T>C 4673;0|159 N N - 2 128949079 128949079 C CT indel UTR3 *1763C>CT UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs11395128 0.430911 0 0 1 0 0 UTR3 UTR3 UTR3 UGGT1(NM_020120:c.*1763C>CT) UGGT1(uc002tps.3:c.*1763C>CT,uc002tpr.3:c.*1763C>CT) ENSG00000136731(ENST00000375990:c.*1763C>CT,ENST00000259253:c.*1763C>CT) Na Na Na Na Na Na Het;+T 2370;91|93 Het;+T 1562;100|65 Hom;+T 6180;1|191 N N - 2 128949893 128949893 A G snp UTR3 *2577A>G UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs1054317 0.4375 0 0 1 0 0 UTR3 UTR3 UTR3 UGGT1(NM_020120:c.*2577A>G) UGGT1(uc002tps.3:c.*2577A>G,uc002tpr.3:c.*2577A>G) ENSG00000136731(ENST00000375990:c.*2577A>G,ENST00000259253:c.*2577A>G) Na Na Na Na Na Na Het;A>G 749;50|35 Het;A>G 996;40|45 Hom;A>G 2314;2|84 N N - 2 128950602 128950602 T C snp UTR3 *3286T>C UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs11682050 0.430511 0 0 1 0 0 UTR3 UTR3 UTR3 UGGT1(NM_020120:c.*3286T>C) UGGT1(uc002tps.3:c.*3286T>C,uc002tpr.3:c.*3286T>C) ENSG00000136731(ENST00000375990:c.*3286T>C,ENST00000259253:c.*3286T>C) Na Na Na Na Na Na Het;T>C 145;1|5 Het;T>C 43;2|2 Hom;T>C 250;0|7 N N - 2 128951840 128951840 C CT indel UTR3 *4524C>CT UGGT1 Uggt1 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 chr2:128848774-128953251 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0051084;'de novo' posttranslational protein folding;TAS|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA|GO:0070062;extracellular exosome;IDA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0051082;unfolded protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGGT1 https://www.uniprot.org/uniprot/Q9NYU2 https://www.ncbi.nlm.nih.gov/omim/?term=605897 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT1&submit=Quick%0D%7392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT1 rs11402174 0.481629 0 0 1 0 0 UTR3 UTR3 UTR3 UGGT1(NM_020120:c.*4524C>CT) UGGT1(uc002tps.3:c.*4524C>CT,uc002tpr.3:c.*4524C>CT) ENSG00000136731(ENST00000375990:c.*4524C>CT,ENST00000259253:c.*4524C>CT) Na Na Na Na Na Na Het;+T 41;4|4 Ref Hom;+T 38;0|3 N N - 2 128957775 128957775 T G snp downstream DYNLT3P2 rs6754809 0.435304 0 0 1 0 0 intergenic intergenic downstream UGGT1(dist=4526),HS6ST1(dist=65279) UGGT1(dist=4526),HS6ST1(dist=65279) ENSG00000229758 Na Na Na Na Na Na Het;T>G 229;12|11 Het;T>G 214;5|11 Hom;T>G 617;0|21 N N - 2 130947887 130947887 G C snp intronic MZT2B Mzt2 ENSG00000152082 mitotic spindle organizing protein 2B chr2:130939310-130948302 Type 2 Diabetes| edema | rosiglitazone Recruitment of NuMA to mitotic centrosomes GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0008274;gamma-tubulin ring complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MZT2B https://www.uniprot.org/uniprot/Q6NZ67 https://www.ncbi.nlm.nih.gov/omim/?term=613450 http://www.informatics.jax.org/searchtool/Search.do?query=MZT2B&submit=Quick%0D%9501ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MZT2B rs1975671 0.369808 0 0 1 0 0 intronic intronic intronic MZT2B MZT2B ENSG00000152082 Na Na Na Na Na Na Het;G>C 81;3|3 Ref Hom;G>C 143;0|4 N N - 2 131670656 131670656 A C snp intronic ARHGEF4 Arhgef4 ENSG00000136002 Rho guanine nucleotide exchange factor 4 chr2:131594489-131804836 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. G alpha (12/13) signalling events GO:0030032;lamellipodium assembly;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046847;filopodium assembly;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF4 https://www.uniprot.org/uniprot/Q9NR80 https://www.ncbi.nlm.nih.gov/omim/?term=605216 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF4&submit=Quick%0D%7266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF4 rs12052584 0.532348 0 0 1 0 0 intergenic intronic intronic AMER3(dist=144949),ARHGEF4(dist=3568) AK127124 ENSG00000136002 Na Na Na Na Na Na Het;A>C 53;2|4 Ref Hom;A>C 145;0|7 N N - 2 131744854 131744854 G A snp intronic ARHGEF4 Arhgef4 ENSG00000136002 Rho guanine nucleotide exchange factor 4 chr2:131594489-131804836 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. G alpha (12/13) signalling events GO:0030032;lamellipodium assembly;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046847;filopodium assembly;IMP|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF4 https://www.uniprot.org/uniprot/Q9NR80 https://www.ncbi.nlm.nih.gov/omim/?term=605216 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF4&submit=Quick%0D%7266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF4 rs11693003 0.710463 0 0 1 0 0 intronic intronic intronic ARHGEF4 ARHGEF4 ENSG00000136002 Na Na Na Na Na Na Het;G>A 357;8|17 Het;G>A 281;17|14 Hom;G>A 474;0|18 N N - 2 131949169 131949169 G A snp ncRNA_exonic NF1P8 rs62177500 0.502196 0 0 1 0 0 intergenic intronic ncRNA_exonic PLEKHB2(dist=41744),POTEE(dist=26755) PLEKHB2 ENSG00000236956 Na Na Na Na Na Na Het;G>A 601;33|28 Het;G>A 709;39|33 Hom;G>A 2096;0|76 N N - 2 132088907 132088907 G C snp intronic PLEKHB2 Plekhb2 ENSG00000115762 pleckstrin homology domain containing B2 chr2:131862420-132111282 GO:0045595;regulation of cell differentiation;IBA GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0055038;recycling endosome membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHB2 https://www.uniprot.org/uniprot/Q96CS7 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHB2&submit=Quick%0D%4657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHB2 rs6714008 0.490016 0 0 1 0 0 intergenic intronic intronic LOC440910(dist=31515),WTH3DI(dist=29158) PLEKHB2 ENSG00000115762 Na Na Na Na Na Na Het;G>C 77;3|4 Ref Hom;G>C 447;0|9 N N - 2 132156279 132156279 C G snp intergenic WTH3DI rs4850108 0.458067 0 0 1 0 0 intergenic intergenic intergenic WTH3DI(dist=34548),LINC01120(dist=4195) TRNA_Pseudo(dist=13075),LOC389043(dist=4195) ENSG00000226831(dist=3164),ENSG00000223631(dist=4195) Na Na Na Na Na Na Het;C>G 275;15|12 Het;C>G 160;5|8 Hom;C>G 816;0|19 N N - 2 132275396 132275396 T C snp synonymous SNV T495C H165H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) LOC150776 rs2277878 0.58127 0 0.4755 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC150776 LOC150776 ENSG00000152117 Na synonymous SNV Na Na LOC150776:uc010fna.3:exon6:c.T495C:p.H165H, Na Het;T>C 2628;92|118 Het;T>C 1616;94|50 Hom;T>C 3163;2|102 N N - 2 132358633 132358633 T C snp ncRNA_intronic POTEKP rs13006377 0.579273 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic POTEKP,RNU6-81P CCDC74A(dist=67394),RNU6-81P(dist=1808) ENSG00000204434 Na Na Na Na Na Na Het;T>C 513;11|19 Het;T>C 381;14|14 Hom;T>C 1040;0|35 N N - 2 132359185 132359185 T C snp ncRNA_intronic POTEKP rs6733901 0.579473 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic POTEKP,RNU6-81P CCDC74A(dist=67946),RNU6-81P(dist=1256) ENSG00000204434 Na Na Na Na Na Na Het;T>C 1716;63|74 Het;T>C 2243;83|94 Hom;T>C 4733;0|158 N N - 2 132366923 132366923 G T snp ncRNA_exonic POTEKP rs1979998 0.57508 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_exonic POTEKP RNU6-81P(dist=6455),FKSG30(dist=17036) ENSG00000204434 Na Na Na Na Na Na Het;G>T 2866;137|126 Het;G>T 2266;118|108 Hom;G>T 5808;4|208 N N - 2 132368971 132368971 C T snp ncRNA_intronic POTEKP rs13024022 0.600639 0 0 1 0 0 intergenic intergenic ncRNA_intronic POTEKP(dist=1997),LINC01087(dist=25627) RNU6-81P(dist=8503),FKSG30(dist=14988) ENSG00000204434 Na Na Na Na Na Na Het;C>T 376;3|11 Het;C>T 105;4|4 Hom;C>T 368;0|10 N N - 2 132384339 132384339 C T snp ncRNA_exonic POTEKP rs13011244 0.583866 0.6658 0 1 0 0 intergenic downstream ncRNA_exonic POTEKP(dist=17365),LINC01087(dist=10259) FKSG30 ENSG00000204434 Na Na Na Na Na Na Het;C>T 2757;151|121 Het;C>T 1752;109|79 Hom;C>T 5575;0|196 N N - 2 132433268 132433268 G A snp intergenic LINC01087 rs12052294 0.194489 0 0 1 0 0 intergenic intergenic intergenic LINC01087(dist=26080),C2orf27A(dist=46796) DQ583165(dist=38953),BX648270(dist=9202) ENSG00000224559(dist=26080),ENSG00000197927(dist=46680) Na Na Na Na Na Na Het;G>A 34;2|2 Ref Hom;G>A 146;0|6 N N - 2 132433492 132433492 G C snp intergenic LINC01087 rs9677217 0.247005 0 0 1 0 0 intergenic intergenic intergenic LINC01087(dist=26304),C2orf27A(dist=46572) DQ583165(dist=39177),BX648270(dist=8978) ENSG00000224559(dist=26304),ENSG00000197927(dist=46456) Na Na Na Na Na Na Het;G>C 563;16|27 Het;G>C 653;15|28 Hom;G>C 1271;0|47 N N - 2 132439928 132439928 T TG indel intergenic LINC01087 rs113719085 0.246805 0 0 1 0 0 intergenic intergenic intergenic LINC01087(dist=32740),C2orf27A(dist=40136) DQ583165(dist=45613),BX648270(dist=2542) ENSG00000224559(dist=32740),ENSG00000197927(dist=40020) Na Na Na Na Na Na Het;+G 244;11|12 Het;+G 245;8|10 Hom;+G 885;1|27 N N - 2 132440040 132440040 T C snp intergenic LINC01087 rs6710318 0.273163 0 0 1 0 0 intergenic intergenic intergenic LINC01087(dist=32852),C2orf27A(dist=40024) DQ583165(dist=45725),BX648270(dist=2430) ENSG00000224559(dist=32852),ENSG00000197927(dist=39908) Na Na Na Na Na Na Het;T>C 1991;75|84 Het;T>C 1382;75|64 Hom;T>C 4499;2|151 N N - 2 132440348 132440348 T C snp intergenic LINC01087 rs62178481 0.215455 0 0 1 0 0 intergenic intergenic intergenic LINC01087(dist=33160),C2orf27A(dist=39716) DQ583165(dist=46033),BX648270(dist=2122) ENSG00000224559(dist=33160),ENSG00000197927(dist=39600) Na Na Na Na Na Na Het;T>C 315;13|11 Het;T>C 103;4|5 Hom;T>C 299;0|9 N N - 2 132716685 132716686 CT C indel ncRNA_intronic AJ239322.2 rs34477214 0.697484 0 0 1 0 0 intergenic intergenic ncRNA_intronic C2orf27B(dist=157451),ANKRD30BL(dist=188478) C2orf27B(dist=157451),ANKRD30BL(dist=188478) ENSG00000244337 Na Na Na Na Na Na Het;-T 181;13|12 Het;-T 221;8|14 Hom;-T 746;0|31 N N - 2 132785659 132785659 C G snp intergenic C2orf27B rs9677912 0.859824 0 0 1 0 0 intergenic intergenic intergenic C2orf27B(dist=226425),ANKRD30BL(dist=119505) C2orf27B(dist=226425),ANKRD30BL(dist=119505) ENSG00000236485(dist=33925),ENSG00000226886(dist=9701) Na Na Na Na Na Na Het;C>G 241;8|11 Het;C>G 273;9|12 Hom;C>G 327;0|11 N N - 2 132786573 132786573 C T snp intergenic C2orf27B rs56054037 0.741414 0 0 1 0 0 intergenic intergenic intergenic C2orf27B(dist=227339),ANKRD30BL(dist=118591) C2orf27B(dist=227339),ANKRD30BL(dist=118591) ENSG00000236485(dist=34839),ENSG00000226886(dist=8787) Na Na Na Na Na Na Het;C>T 79;1|3 Ref Hom;C>T 124;0|4 N N - 2 132788474 132788474 G C snp intergenic C2orf27B rs4125660 0.859625 0 0 1 0 0 intergenic intergenic intergenic C2orf27B(dist=229240),ANKRD30BL(dist=116690) C2orf27B(dist=229240),ANKRD30BL(dist=116690) ENSG00000236485(dist=36740),ENSG00000226886(dist=6886) Na Na Na Na Na Na Het;G>C 537;9|15 Het;G>C 248;6|7 Hom;G>C 895;0|21 N N - 2 132788480 132788481 GT G indel intergenic C2orf27B rs35303475 0.711661 0 0 1 0 0 intergenic intergenic intergenic C2orf27B(dist=229246),ANKRD30BL(dist=116683) C2orf27B(dist=229246),ANKRD30BL(dist=116683) ENSG00000236485(dist=36746),ENSG00000226886(dist=6879) Na Na Na Na Na Na Het;-T 496;9|11 Het;-T 239;6|7 Hom;-T 814;0|18 N N - 2 132795189 132795189 A G snp downstream AC093787.1 rs1996143 0.790935 0 0 1 0 0 intergenic intergenic downstream C2orf27B(dist=235955),ANKRD30BL(dist=109975) C2orf27B(dist=235955),ANKRD30BL(dist=109975) ENSG00000226886 Na Na Na Na Na Na Het;A>G 70;5|3 Het;A>G 50;3|4 Hom;A>G 153;0|6 N N - 2 132795438 132795438 T A snp ncRNA_exonic AC093787.1 rs34048106 0.777756 0 0 1 0 0 intergenic intergenic ncRNA_exonic C2orf27B(dist=236204),ANKRD30BL(dist=109726) C2orf27B(dist=236204),ANKRD30BL(dist=109726) ENSG00000226886 Na Na Na Na Na Na Het;T>A 482;28|23 Het;T>A 635;22|30 Hom;T>A 904;0|35 N N - 2 132795460 132795460 T G snp ncRNA_exonic AC093787.1 rs1996144 0.856629 0 0 1 0 0 intergenic intergenic ncRNA_exonic C2orf27B(dist=236226),ANKRD30BL(dist=109704) C2orf27B(dist=236226),ANKRD30BL(dist=109704) ENSG00000226886 Na Na Na Na Na Na Het;T>G 499;24|22 Het;T>G 655;22|28 Hom;T>G 832;0|30 N N - 2 132795483 132795483 T C snp ncRNA_exonic AC093787.1 rs1996145 0.790535 0 0 1 0 0 intergenic intergenic ncRNA_exonic C2orf27B(dist=236249),ANKRD30BL(dist=109681) C2orf27B(dist=236249),ANKRD30BL(dist=109681) ENSG00000226886 Na Na Na Na Na Na Het;T>C 409;25|18 Het;T>C 545;17|23 Hom;T>C 747;0|28 N N - 2 133019493 133019493 C G snp upstream CDC27P1 rs78153741 0 0 0 1 0 0 intergenic intergenic upstream ANKRD30BL(dist=3951),ZNF806(dist=45224) JA668105(dist=3898),AK094599(dist=42866) ENSG00000233786 Na Na Na Na Na Na Het;C>G 261;5|8 Het;C>G 230;9|8 Hom;C>G 338;0|9 N N - 2 133019556 133019556 T C snp upstream CDC27P1 rs57233869 0 0 0 1 0 0 intergenic intergenic upstream ANKRD30BL(dist=4014),ZNF806(dist=45161) JA668105(dist=3961),AK094599(dist=42803) ENSG00000233786 Na Na Na Na Na Na Het;T>C 2100;6|50 Het;T>C 2041;6|53 Hom;T>C 2151;3|53 N N - 2 133971448 133971448 T A snp ncRNA_intronic MIR7853 rs13393624 0.0936502 0 0 1 0 0 ncRNA_intronic intronic intronic MIR7853 NCKAP5 ENSG00000176771 Na Na Na Na Na Na Het;T>A 238;3|8 Het;T>A 105;1|4 Hom;T>A 257;0|9 N N - 2 134475215 134475215 A G snp intergenic NCKAP5 Nckap5 ENSG00000176771 NCK associated protein 5 chr2:133429374-134326034 Attention Deficit Disorder with Hyperactivity; Blood Pressure; Hypertension; Blood Cells; Glaucoma, Open-Angle; Multiple Sclerosis; Glucose; Cholesterol; Mental Disorders; Bipolar Disorder; Lipoproteins, VLDL; gemcitabine; Sodium; Blood Coagulation Factors GO:0008150;biological_process;ND GO:0005575;cellular_component;ND http://www.genecards.org/index.php?path=/Search/keyword/NCKAP5 https://www.ncbi.nlm.nih.gov/omim/?term=608789 http://www.informatics.jax.org/searchtool/Search.do?query=NCKAP5&submit=Quick%0D%13908ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCKAP5 rs4560170 0.720847 0 0 1 0 0 intergenic intergenic intergenic NCKAP5(dist=149184),MIR3679(dist=409481) 7SK(dist=121245),MIR3679(dist=409481) ENSG00000200708(dist=121245),ENSG00000152127(dist=402538) Na Na Na Na Na Na Het;A>G 866;23|34 Het;A>G 778;25|28 Hom;A>G 2464;0|80 N N - 2 13497132 13497133 AG A indel intergenic LOC100506474 rs151324225 0.186302 0 0 1 0 0 intergenic intergenic intergenic LOC100506474(dist=349994),LINC00276(dist=871865) LOC100506474(dist=349994),BC035112(dist=871865) ENSG00000225649(dist=349994),ENSG00000229370(dist=180665) Na Na Na Na Na Na Het;-G 248;15|9 Het;-G 205;5|7 Hom;-G 320;0|9 N N - 2 137075288 137075288 G A snp intergenic CXCR4 Cxcr4 ENSG00000121966 C-X-C motif chemokine receptor 4 chr2:136871919-136875735 This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Body Height; asthma; HIV Infected Long- Term Nonprogressors; Breath Tests; breast cancer ; Celiac Disease|; Carcinoma, Hepatocellular|Liver Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; multiple sclerosis; Leukemia, Lymphocytic, Chronic, B-Cell; diabetes, type 2; Telomere; cirrhosis hepatitis B, chronic; Coronary Disease; HIV infection; HIV Infections; colorectal cancer; Type 2 Diabetes| edema | rosiglitazone; asthma; HIV disease progression; Multiple Sclerosis; Lymphoma, Non-Hodgkin; Neuroblastoma; HIV/SIV infection; null; thyroid cancer; HIV; Electrocardiography; Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms Homozygous targeted null mutants exhibit altered viability, lungs, kidneys, immune system, hematopoiesis, myelopoiesis, cerebellar foliation, neuronal cell layer development, susceptibility to diet-induced obesity and adaptive thermogenesis. G alpha (i) signalling events GO:0000187;activation of MAPK activity;TAS|GO:0001666;response to hypoxia;IEP|GO:0002407;dendritic cell chemotaxis;TAS|GO:0006915;apoptotic process;TAS|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0009615;response to virus;TAS|GO:0016032;viral process;IEA|GO:0019064;fusion of virus membrane with host plasma membrane;TAS|GO:0019722;calcium-mediated signaling;IMP|GO:0030260;entry into host cell;TAS|GO:0043217;myelin maintenance;ISS|GO:0048714;positive regulation of oligodendrocyte differentiation;ISS|GO:0050920;regulation of chemotaxis;IMP|GO:0070098;chemokine-mediated signaling pathway;IEA|GO:0071345;cellular response to cytokine stimulus;IDA GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031252;cell leading edge;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0043234;protein complex;IMP|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0003779;actin binding;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004950;chemokine receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;TAS|GO:0016494;C-X-C chemokine receptor activity;NAS|GO:0019955;cytokine binding;IEA|GO:0019957;C-C chemokine binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032027;myosin light chain binding;IDA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CXCR4 https://www.uniprot.org/uniprot/P61073 https://hpo.jax.org/app/browse/search?q=CXCR4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=162643 http://www.informatics.jax.org/searchtool/Search.do?query=CXCR4&submit=Quick%0D%5369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCR4 rs13028760 0.276558 0 0 1 0 0 intergenic intergenic intergenic CXCR4(dist=199563),THSD7B(dist=673174) CXCR4(dist=199563),7SK(dist=72614) ENSG00000227347(dist=117215),ENSG00000230037(dist=11723) Na Na Na Na Na Na Het;G>A 1014;61|52 Het;G>A 552;66|32 Hom;G>A 2857;2|111 N N - 2 138378391 138378391 C T snp intronic THSD7B Thsd7b ENSG00000144229 thrombospondin type 1 domain containing 7B chr2:137523115-138435287 Body Weight; Follicle Stimulating Hormone; Cholesterol, HDL; Lipoproteins, VLDL; Exercise Test; Tobacco Use Disorder; Cholesterol; Stroke; Cholesterol, LDL; Receptors, Tumor Necrosis Factor, Type II; Hip; Neuropsychological Tests; Brain; Heart Rate O-glycosylation of TSR domain-containing proteins GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/THSD7B https://www.uniprot.org/uniprot/Q9C0I4 http://www.informatics.jax.org/searchtool/Search.do?query=THSD7B&submit=Quick%0D%8583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7B rs573304276 0.00539137 0 0 1 0 0 intronic intronic intronic THSD7B THSD7B ENSG00000144229 Na Na Na Na Na Na Het;C>T 348;13|15 Ref Hom;C>T 366;0|12 N N - 2 138683934 138683934 T A snp ncRNA_exonic LOC101928273 rs2375672 0.631589 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928273 THSD7B(dist=248647),HNMT(dist=37874) ENSG00000234007 Na Na Na Na Na Na Het;T>A 729;51|37 Het;T>A 589;57|33 Hom;T>A 2438;0|91 N N - 2 138684021 138684022 TA T indel upstream ENSG00000234007 rs34258754 0.589856 0 0 1 0 0 ncRNA_intronic intergenic upstream LOC101928273 THSD7B(dist=248734),HNMT(dist=37786) ENSG00000234007 Na Na Na Na Na Na Het;-A 344;22|14 Het;-A 390;17|15 Hom;-A 875;0|26 N N - 2 138684067 138684067 T C snp upstream ENSG00000234007 rs2375673 0.63099 0 0 1 0 0 ncRNA_intronic intergenic upstream LOC101928273 THSD7B(dist=248780),HNMT(dist=37741) ENSG00000234007 Na Na Na Na Na Na Het;T>C 211;7|7 Het;T>C 193;8|8 Hom;T>C 285;0|9 N N - 2 138685527 138685527 A T snp upstream LOC101928273 rs9287487 0.639177 0 0 1 0 0 upstream intergenic intergenic LOC101928273 THSD7B(dist=250240),HNMT(dist=36281) ENSG00000234007(dist=1550),ENSG00000150540(dist=36063) Na Na Na Na Na Na Het;A>T 742;45|37 Het;A>T 708;31|32 Hom;A>T 2102;0|77 N N - 2 138685612 138685612 A C snp upstream LOC101928273 rs10171320 0.707468 0 0 1 0 0 upstream intergenic intergenic LOC101928273 THSD7B(dist=250325),HNMT(dist=36196) ENSG00000234007(dist=1635),ENSG00000150540(dist=35978) Na Na Na Na Na Na Het;A>C 294;8|9 Het;A>C 296;6|9 Hom;A>C 486;0|15 N N - 2 139063503 139063503 A T snp intergenic HNMT Hnmt ENSG00000150540 histamine N-methyltransferase chr2:138721590-138773930 In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] Essential Tremor|; cortisol histamine; histamine N-methyltransferase activity; Duodenal Ulcer; Urticaria; Dermatitis, Atopic|; respiratory syncytial virus bronchiolitis; Asthma; asthma; bronchial hyperresponsiveness; Hearing Loss; diabetes, type 2; Weight Gain; ulcerative colitis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Cholesterol, HDL; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Parkinson's disease ; alcoholism; urticaria/angioedema; Chronic renal failure|Kidney Failure, Chronic; methylprednisolone pharmacokinetics; Arteries; Migraine Disorders; drug-related genes ; multiple sclerosis; gastric ulcer; erythrocyte histamine N-methyltransferase activity; histamine N-methyltransferase; Parkinson's disease; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit elevated histamine levels in the brain, increased aggression, hypoactivity and altered sleep-wake cycle. Histidine catabolism GO:0001695;histamine catabolic process;IDA|GO:0002347;response to tumor cell;IEA|GO:0006548;histidine catabolic process;TAS|GO:0006972;hyperosmotic response;IEA|GO:0007420;brain development;IBA|GO:0007585;respiratory gaseous exchange;TAS|GO:0014075;response to amine;IEA|GO:0032259;methylation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0042220;response to cocaine;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0070555;response to interleukin-1;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IBA|GO:0070062;extracellular exosome;IDA GO:0008168;methyltransferase activity;IEA|GO:0008170;N-methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046539;histamine N-methyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/HNMT https://www.uniprot.org/uniprot/P50135 https://hpo.jax.org/app/browse/search?q=HNMT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605238 http://www.informatics.jax.org/searchtool/Search.do?query=HNMT&submit=Quick%0D%9326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNMT rs10928651 0.923722 0 0 1 0 0 intergenic intergenic intergenic HNMT(dist=289569),SPOPL(dist=195847) HNMT(dist=289569),SPOPL(dist=195847) ENSG00000234645(dist=17140),ENSG00000237939(dist=1386) Na Na Na Na Na Na Het;A>T 742;23|34 Het;A>T 637;45|32 Hom;A>T 1821;0|66 N N - 2 139065123 139065123 T C snp ncRNA_exonic AC097523.2 rs7564491 0.923522 0 0 1 0 0 intergenic intergenic ncRNA_exonic HNMT(dist=291189),SPOPL(dist=194227) HNMT(dist=291189),SPOPL(dist=194227) ENSG00000237939 Na Na Na Na Na Na Het;T>C 673;24|27 Het;T>C 397;25|18 Hom;T>C 1313;0|45 N N - 2 139065411 139065411 G A snp ncRNA_exonic AC097523.2 rs4954919 0.923123 0 0 1 0 0 intergenic intergenic ncRNA_exonic HNMT(dist=291477),SPOPL(dist=193939) HNMT(dist=291477),SPOPL(dist=193939) ENSG00000237939 Na Na Na Na Na Na Het;G>A 485;28|19 Het;G>A 646;33|29 Hom;G>A 1323;0|46 N N - 2 140992337 140992337 C A snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs13387241 0.467452 0.5303 0.5495 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;C>A 133;2|7 Het;C>A 378;27|19 Hom;C>A 2015;0|73 N N - 2 141253408 141253408 T C snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs11683334 0.542133 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;T>C 308;13|13 Het;T>C 530;19|20 Hom;T>C 998;0|30 N N - 2 141260668 141260668 A G snp synonymous SNV T8526C Y2842Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs4444457 0.543131 0.5328 0.5490 1 0 0 exonic exonic exonic LRP1B LRP1B ENSG00000168702 synonymous SNV synonymous SNV unknown LRP1B:NM_018557:exon54:c.T8526C:p.Y2842Y, LRP1B:uc002tvj.1:exon54:c.T8526C:p.Y2842Y, UNKNOWN Het;A>G 1102;66|48 Het;A>G 2196;79|93 Hom;A>G 6081;2|212 N N - 2 141291841 141291841 T A snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs10928755 0.516374 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;T>A 77;5|4 Het;T>A 265;5|11 Hom;T>A 285;0|8 N N - 2 141291878 141291878 C T snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs11695464 0.493411 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;C>T 63;5|3 Het;C>T 122;3|5 Hom;C>T 122;0|4 N N - 2 141298467 141298467 A C snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs6729619 0.484824 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;A>C 242;10|9 Het;A>C 61;10|4 Hom;A>C 803;0|25 N N - 2 141298682 141298682 G C snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs11694934 0.504792 0.4952 0.5084 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;G>C 828;41|35 Het;G>C 1362;59|63 Hom;G>C 3185;0|116 N N - 2 141298749 141298749 G C snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs11694970 0.463458 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;G>C 230;13|11 Het;G>C 541;14|17 Hom;G>C 1001;0|32 N N - 2 141299317 141299317 A G snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs9287535 0.518371 0.4965 0.5180 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;A>G 535;7|24 Het;A>G 460;24|19 Hom;A>G 1624;0|52 N N - 2 1417199 1417199 G A snp upstream TPO Tpo ENSG00000277603 thyroid peroxidase chr2:1377995-1547483 This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPO https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606765 http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO rs2071402 0.391973 0 0 1 0 0 upstream upstream upstream TPO TPO ENSG00000115705 Na Na Na Na Na Na Het;G>A 114;6|6 Het;G>A 81;5|5 Hom;G>A 501;0|21 N N - 2 1417244 1417244 A G snp UTR5 -937A>G TPO Tpo ENSG00000277603 thyroid peroxidase chr2:1377995-1547483 This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPO https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606765 http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO rs2071403 0.632388 0 0 1 0 0 UTR5 UTR5 UTR5 TPO(NM_001206744:c.-937A>G,NM_175719:c.-937A>G,NM_001206745:c.-937A>G,NM_000547:c.-937A>G) TPO(uc010yin.1:c.-937A>G,uc002qwr.3:c.-937A>G,uc002qww.3:c.-937A>G,uc002qwx.3:c.-937A>G,uc002qwu.3:c.-937A>G) ENSG00000115705(ENST00000539820:c.-937A>G,ENST00000349624:c.-937A>G,ENST00000346956:c.-937A>G,ENST00000345913:c.-937A>G,ENST00000337415:c.-937A>G,ENST00000382269:c.-937A>G,ENST00000329066:c.-937A>G) Na Na Na Na Na Na Het;A>G 276;9|12 Het;A>G 322;9|16 Hom;A>G 700;0|28 N N - 2 142438280 142438280 A T snp intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs355553 0.519369 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;A>T 44;5|4 Het;A>T 78;1|3 Hom;A>T 290;0|9 N N - 2 142668061 142668061 A AT indel intronic LRP1B Lrp1b ENSG00000168702 LDL receptor related protein 1B chr2:140988992-142889270 This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] Monocytes; Osteoporosis; Neuroblastoma; Blood Pressure; Waist-Hip Ratio; Body Height; Aging; Tobacco Use Disorder; Body Mass Index; Lipoproteins, VLDL; Apolipoproteins B; Insulin; cognitive ability; Menarche; Hemoglobin A, Glycosylated; Optic Nerve; Erectile Dysfunction Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0015031;protein transport;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP1B https://www.ncbi.nlm.nih.gov/omim/?term=608766 http://www.informatics.jax.org/searchtool/Search.do?query=LRP1B&submit=Quick%0D%12326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP1B rs11447454 0 0 0 1 0 0 intronic intronic intronic LRP1B LRP1B ENSG00000168702 Na Na Na Na Na Na Het;+T 887;39|39 Het;+T 1144;73|53 Hom;+T 3725;3|129 N N - 2 143612415 143612415 A G snp ncRNA_exonic AC013444.1 rs6748749 0.460264 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRP1B(dist=723145),KYNU(dist=22780) LRP1B(dist=723145),KYNU(dist=22780) ENSG00000229781 Na Na Na Na Na Na Het;A>G 167;5|8 Ref Hom;A>G 210;0|9 N N - 2 143713700 143713700 T A snp intronic KYNU Kynu ENSG00000115919 kynureninase chr2:143635067-143799890 Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Schizophrenia; Tobacco Use Disorder; Body Height; Cholesterol, LDL; Acquired Immunodeficiency Syndrome|Disease Progression; hypertension; Cholesterol; Cholesterol, HDL Tryptophan catabolism GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019441;tryptophan catabolic process to kynurenine;IEA|GO:0019442;tryptophan catabolic process to acetyl-CoA;IEA|GO:0019805;quinolinate biosynthetic process;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0034516;response to vitamin B6;IMP|GO:0043420;anthranilate metabolic process;IDA|GO:0097053;L-kynurenine catabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030429;kynureninase activity;TAS|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/KYNU https://www.uniprot.org/uniprot/Q16719 https://hpo.jax.org/app/browse/search?q=KYNU&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605197 http://www.informatics.jax.org/searchtool/Search.do?query=KYNU&submit=Quick%0D%4675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KYNU rs351674 0.632987 0 0 1 0 0 intronic intronic intronic KYNU KYNU ENSG00000115919 Na Na Na Na Na Na Het;T>A 415;16|14 Het;T>A 228;28|12 Hom;T>A 1350;0|41 N N - 2 1437163 1437163 A C snp intronic TPO Tpo ENSG00000277603 thyroid peroxidase chr2:1377995-1547483 This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPO https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606765 http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO rs1473936 0.399161 0.3166 0.2993 1 0 0 intronic intronic intronic TPO TPO ENSG00000115705 Na Na Na Na Na Na Het;A>C 187;20|8 Het;A>C 353;18|13 Hom;A>C 575;0|20 N N - 2 1440299 1440299 A G snp intronic TPO Tpo ENSG00000277603 thyroid peroxidase chr2:1377995-1547483 This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPO https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606765 http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO rs28909386 0.292732 0 0 1 0 0 intronic intronic intronic TPO TPO ENSG00000115705 Na Na Na Na Na Na Het;A>G 256;8|9 Het;A>G 69;5|3 Hom;A>G 135;0|4 N N - 2 144174385 144174385 C G snp ncRNA_intronic AC096558.1 rs190883680 0 0 0 1 0 0 intronic intronic ncRNA_intronic ARHGAP15 ARHGAP15 ENSG00000228655,ENSG00000257640 Na Na Na Na Na Na Het;C>G 44;4|2 Ref Hom;C>G 277;0|7 N N - 2 144174400 144174406 CCCCACG C indel ncRNA_intronic AC096558.1 rs573751822 0 0 0 1 0 0 intronic intronic ncRNA_intronic ARHGAP15 ARHGAP15 ENSG00000228655,ENSG00000257640 Na Na Na Na Na Na Het;-CCCACG 41;2|2 Ref Hom;-CCCACG 267;0|7 N N - 2 144174412 144174414 ACG A indel ncRNA_intronic AC096558.1 rs60148649 0 0 0 1 0 0 intronic intronic ncRNA_intronic ARHGAP15 ARHGAP15 ENSG00000228655,ENSG00000257640 Na Na Na Na Na Na Het;-CG 41;2|2 Ref Hom;-CG 267;0|7 N N - 2 144347805 144347805 C T snp ncRNA_intronic AC079793.1 rs11898289 0.324681 0 0 1 0 0 intronic intronic ncRNA_intronic ARHGAP15 ARHGAP15 ENSG00000258268 Na Na Na Na Na Na Het;C>T 580;34|26 Het;C>T 351;25|19 Hom;C>T 1650;0|63 N N - 2 145832249 145832249 T C snp ncRNA_exonic TEX41 rs2890769 0.365016 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic TEX41 TEX41 ENSG00000226674 Na Na Na Na Na Na Het;T>C 1008;49|29 Het;T>C 1111;59|32 Hom;T>C 2562;2|92 N N - 2 145832258 145832258 A G snp ncRNA_exonic TEX41 rs2381687 0.366414 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic TEX41 TEX41 ENSG00000226674 Na Na Na Na Na Na Het;A>G 992;48|28 Het;A>G 1152;58|33 Hom;A>G 4043;0|92 N N - 2 146034403 146034403 G GGA indel intergenic TEX41 rs111880602 0.542133 0 0 1 0 0 intergenic intergenic intergenic TEX41(dist=200112),PABPC1P2(dist=1310222) BC040861(dist=124331),PABPC1P2(dist=1310222) ENSG00000226674(dist=94187),ENSG00000235435(dist=17442) Na Na Na Na Na Na Het;+GA 356;10|11 Het;+GA 686;22|20 Hom;+GA 2439;2|61 N N - 2 148657589 148657589 A G snp ncRNA_intronic AC009480.1 rs2288190 0.476038 0 0 1 0 0 intronic intronic ncRNA_intronic ACVR2A ACVR2A ENSG00000223911 Na Na Na Na Na Na Het;A>G 185;6|6 Het;A>G 296;9|10 Hom;A>G 174;0|5 N N - 2 1491510 1491511 CA C indel intronic TPO Tpo ENSG00000277603 thyroid peroxidase chr2:1377995-1547483 This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPO https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606765 http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO rs72230434 0 0 0 1 0 0 intronic intronic intronic TPO TPO ENSG00000115705 Na Na Na Na Na Na Het;-A 74;6|7 Het;-A 70;1|6 Hom;-A 198;2|11 N N - 2 149243260 149243260 G A snp UTR5 -56G>A MBD5 Mbd5 ENSG00000204406 methyl-CpG binding domain protein 5 chr2:148778580-149275805 This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010] Heart Rate; Stroke; Lipoproteins, VLDL; Cholesterol, LDL Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis. UCH proteinases GO:0007399;nervous system development;IMP|GO:0016579;protein deubiquitination;TAS|GO:0040014;regulation of multicellular organism growth;ISS|GO:0042593;glucose homeostasis;ISS|GO:0044708;single-organism behavior;IMP|GO:0060399;positive regulation of growth hormone receptor signaling pathway;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0010369;chromocenter;IDA|GO:0030496;midbody;IDA|GO:0070062;extracellular exosome;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MBD5 https://hpo.jax.org/app/browse/search?q=MBD5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611472 http://www.informatics.jax.org/searchtool/Search.do?query=MBD5&submit=Quick%0D%17291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD5 rs2121344 0.599641 0.5630 0.6501 1 0 0 intronic UTR5 intronic MBD5 MBD5(uc002twp.3:c.-56G>A) ENSG00000204406 Na Na Na Na Na Na Het;G>A 35;3|2 Het;G>A 114;4|5 Hom;G>A 100;0|4 N N - 2 149529095 149529095 A G snp intronic EPC2 Epc2 ENSG00000135999 enhancer of polycomb homolog 2 chr2:149402009-149545130 Alzheimer Disease; protein quantitative trait loci; Alzheimer Disease|Alzheimer's Disease; Tobacco Use Disorder GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016569;covalent chromatin modification;IEA GO:0005634;nucleus;IEA|GO:0032777;Piccolo NuA4 histone acetyltransferase complex;IEA|GO:0035267;NuA4 histone acetyltransferase complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPC2 https://www.uniprot.org/uniprot/Q52LR7 https://www.ncbi.nlm.nih.gov/omim/?term=611000 http://www.informatics.jax.org/searchtool/Search.do?query=EPC2&submit=Quick%0D%7265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPC2 rs13022974 0.237021 0 0 1 0 0 intronic intronic intronic EPC2 EPC2 ENSG00000135999 Na Na Na Na Na Na Het;A>G 115;5|4 Ref Hom;A>G 332;0|8 N N - 2 150069645 150069645 C CGT indel intronic LYPD6B Lypd6b ENSG00000150556 LY6/PLAUR domain containing 6B chr2:149894621-150071776 Alcoholism; Tobacco Use Disorder Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA GO:0030548;acetylcholine receptor regulator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LYPD6B https://www.uniprot.org/uniprot/Q8NI32 http://www.informatics.jax.org/searchtool/Search.do?query=LYPD6B&submit=Quick%0D%9328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYPD6B rs397822773 0.11262 0.1568 0.1630 1 0 0 intronic intronic intronic LYPD6B LYPD6B ENSG00000150556 Na Na Na Na Na Na Het;+GT 981;21|31 Het;+GT 911;41|31 Hom;+GT 1673;0|46 N N - 2 150177142 150177142 G A snp ncRNA_exonic FAM8A3P rs10201944 0.519569 0 0 1 0 0 intergenic intergenic ncRNA_exonic LYPD6B(dist=105370),LYPD6(dist=9357) LYPD6B(dist=105370),LYPD6(dist=9357) ENSG00000224337 Na Na Na Na Na Na Het;G>A 108;3|4 Het;G>A 196;1|10 Hom;G>A 605;0|23 N N - 2 150177350 150177350 G A snp ncRNA_exonic FAM8A3P rs12151750 0.383786 0 0 1 0 0 intergenic intergenic ncRNA_exonic LYPD6B(dist=105578),LYPD6(dist=9149) LYPD6B(dist=105578),LYPD6(dist=9149) ENSG00000224337 Na Na Na Na Na Na Het;G>A 682;29|32 Het;G>A 334;31|19 Hom;G>A 593;0|24 N N - 2 150325416 150325416 A G snp intronic LYPD6 Lypd6 ENSG00000187123 LY6/PLAUR domain containing 6 chr2:150186499-150330662 Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010] Tobacco Use Disorder GO:0099601;regulation of neurotransmitter receptor activity;IEA|GO:2000272;negative regulation of receptor activity;IEA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030548;acetylcholine receptor regulator activity;IEA|GO:0030550;acetylcholine receptor inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LYPD6 https://www.ncbi.nlm.nih.gov/omim/?term=613359 http://www.informatics.jax.org/searchtool/Search.do?query=LYPD6&submit=Quick%0D%15784ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYPD6 rs1196660 0.648363 0 0 1 0 0 intronic intronic intronic LYPD6 LYPD6 ENSG00000187123 Na Na Na Na Na Na Het;A>G 180;5|6 Het;A>G 76;4|3 Hom;A>G 128;0|4 N N - 2 150426362 150426362 T C snp UTR3 *126A>G MMADHC Mmadhc ENSG00000168288 methylmalonic aciduria and homocystinuria, cblD type chr2:150426148-150444330 This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] Menopause; Erythrocyte Count; Prostatic Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Sleep; Alcoholism; Type 2 Diabetes| edema | rosiglitazone Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD GO:0009108;coenzyme biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMADHC https://hpo.jax.org/app/browse/search?q=MMADHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611935 http://www.informatics.jax.org/searchtool/Search.do?query=MMADHC&submit=Quick%0D%12235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMADHC rs6923 0.553115 0 0 1 0 0 UTR3 UTR3 UTR3 MMADHC(NM_015702:c.*126A>G) MMADHC(uc002txc.3:c.*126A>G) ENSG00000168288(ENST00000303319:c.*126A>G,ENST00000428879:c.*126A>G,ENST00000422782:c.*126A>G) Na Na Na Na Na Na Het;T>C 637;22|28 Het;T>C 666;32|28 Hom;T>C 1461;0|53 N N - 2 150427516 150427516 C T snp intronic MMADHC Mmadhc ENSG00000168288 methylmalonic aciduria and homocystinuria, cblD type chr2:150426148-150444330 This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] Menopause; Erythrocyte Count; Prostatic Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Sleep; Alcoholism; Type 2 Diabetes| edema | rosiglitazone Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD GO:0009108;coenzyme biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMADHC https://hpo.jax.org/app/browse/search?q=MMADHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611935 http://www.informatics.jax.org/searchtool/Search.do?query=MMADHC&submit=Quick%0D%12235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMADHC rs4500908 0.621805 0 0 1 0 0 intronic intronic intronic MMADHC MMADHC ENSG00000168288 Na Na Na Na Na Na Het;C>T 100;8|5 Het;C>T 129;1|6 Hom;C>T 186;0|7 N N - 2 150432377 150432377 C G snp intronic MMADHC Mmadhc ENSG00000168288 methylmalonic aciduria and homocystinuria, cblD type chr2:150426148-150444330 This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] Menopause; Erythrocyte Count; Prostatic Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Sleep; Alcoholism; Type 2 Diabetes| edema | rosiglitazone Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD GO:0009108;coenzyme biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMADHC https://hpo.jax.org/app/browse/search?q=MMADHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611935 http://www.informatics.jax.org/searchtool/Search.do?query=MMADHC&submit=Quick%0D%12235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMADHC rs12232959 0.621605 0.6226 0.7540 1 0 0 intronic intronic intronic MMADHC MMADHC ENSG00000168288 Na Na Na Na Na Na Het;C>G 763;13|27 Het;C>G 346;18|14 Hom;C>G 1303;0|43 N N - 2 150432469 150432469 G T snp intronic MMADHC Mmadhc ENSG00000168288 methylmalonic aciduria and homocystinuria, cblD type chr2:150426148-150444330 This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] Menopause; Erythrocyte Count; Prostatic Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Sleep; Alcoholism; Type 2 Diabetes| edema | rosiglitazone Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD GO:0009108;coenzyme biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMADHC https://hpo.jax.org/app/browse/search?q=MMADHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611935 http://www.informatics.jax.org/searchtool/Search.do?query=MMADHC&submit=Quick%0D%12235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMADHC rs10932467 0.63139 0 0 1 0 0 intronic intronic intronic MMADHC MMADHC ENSG00000168288 Na Na Na Na Na Na Het;G>T 172;3|6 Ref Hom;G>T 284;0|8 N N - 2 150433128 150433128 C G snp intronic MMADHC Mmadhc ENSG00000168288 methylmalonic aciduria and homocystinuria, cblD type chr2:150426148-150444330 This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] Menopause; Erythrocyte Count; Prostatic Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Sleep; Alcoholism; Type 2 Diabetes| edema | rosiglitazone Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD GO:0009108;coenzyme biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMADHC https://hpo.jax.org/app/browse/search?q=MMADHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611935 http://www.informatics.jax.org/searchtool/Search.do?query=MMADHC&submit=Quick%0D%12235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMADHC rs11680630 0.63139 0 0 1 0 0 intronic intronic intronic MMADHC MMADHC ENSG00000168288 Na Na Na Na Na Na Het;C>G 625;33|26 Het;C>G 659;27|27 Hom;C>G 2194;0|73 N N - 2 150435889 150435889 C CAA indel intronic MMADHC Mmadhc ENSG00000168288 methylmalonic aciduria and homocystinuria, cblD type chr2:150426148-150444330 This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] Menopause; Erythrocyte Count; Prostatic Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease; Sleep; Alcoholism; Type 2 Diabetes| edema | rosiglitazone Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD GO:0009108;coenzyme biosynthetic process;IMP|GO:0009235;cobalamin metabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MMADHC https://hpo.jax.org/app/browse/search?q=MMADHC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611935 http://www.informatics.jax.org/searchtool/Search.do?query=MMADHC&submit=Quick%0D%12235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMADHC rs36108609 0.648363 0 0 1 0 0 intronic intronic intronic MMADHC MMADHC ENSG00000168288 Na Na Na Na Na Na Het;+AA 561;16|15 Het;+AA 339;10|10 Hom;+AA 1397;0|33 N N - 2 150623975 150623975 G T snp ncRNA_intronic LOC101929231 rs7565684 0.400359 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929231 U6(dist=156687),TRNA_Pseudo(dist=595302) ENSG00000231969 Na Na Na Na Na Na Het;G>T 957;46|26 Het;G>T 1572;48|35 Hom;G>T 4963;1|109 N N - 2 150623991 150623991 G GGA indel ncRNA_intronic LOC101929231 rs146078716 0.400359 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929231 U6(dist=156703),TRNA_Pseudo(dist=595286) ENSG00000231969 Na Na Na Na Na Na Het;+GA 1493;61|38 Het;+GA 2139;65|53 Hom;+GA 7254;1|159 N N - 2 150624001 150624001 A G snp ncRNA_intronic LOC101929231 rs34122308 0.400359 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929231 U6(dist=156713),TRNA_Pseudo(dist=595276) ENSG00000231969 Na Na Na Na Na Na Het;A>G 1666;70|48 Het;A>G 2341;89|68 Hom;A>G 7857;1|187 N N - 2 150624073 150624073 T C snp ncRNA_exonic LINC01931 rs10172203 0.40016 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_exonic LOC101929231 U6(dist=156785),TRNA_Pseudo(dist=595204) ENSG00000162947 Na Na Na Na Na Na Het;T>C 2536;143|124 Het;T>C 3847;207|177 Hom;T>C 11512;3|434 N N - 2 150814184 150814184 A G snp intergenic LOC101929231 rs10172129 0.272963 0 0 1 0 0 intergenic intergenic intergenic LOC101929231(dist=109436),RND3(dist=510523) U6(dist=346896),TRNA_Pseudo(dist=405093) ENSG00000162947(dist=98479),ENSG00000230645(dist=213753) Na Na Na Na Na Na Het;A>G 69;6|3 Het;A>G 68;7|3 Hom;A>G 140;0|4 N N - 2 150814198 150814198 T C snp intergenic LOC101929231 rs10174678 0.289537 0 0 1 0 0 intergenic intergenic intergenic LOC101929231(dist=109450),RND3(dist=510509) U6(dist=346910),TRNA_Pseudo(dist=405079) ENSG00000162947(dist=98493),ENSG00000230645(dist=213739) Na Na Na Na Na Na Het;T>C 104;7|4 Het;T>C 66;7|3 Hom;T>C 173;0|5 N N - 2 150814234 150814234 A G snp intergenic LOC101929231 rs10172149 0.289936 0 0 1 0 0 intergenic intergenic intergenic LOC101929231(dist=109486),RND3(dist=510473) U6(dist=346946),TRNA_Pseudo(dist=405043) ENSG00000162947(dist=98529),ENSG00000230645(dist=213703) Na Na Na Na Na Na Het;A>G 196;17|8 Het;A>G 184;11|8 Hom;A>G 378;0|12 N N - 2 150814268 150814268 G A snp intergenic LOC101929231 rs10182848 0.289736 0 0 1 0 0 intergenic intergenic intergenic LOC101929231(dist=109520),RND3(dist=510439) U6(dist=346980),TRNA_Pseudo(dist=405009) ENSG00000162947(dist=98563),ENSG00000230645(dist=213669) Na Na Na Na Na Na Het;G>A 462;30|18 Het;G>A 396;20|18 Hom;G>A 829;0|29 N N - 2 150814592 150814592 T C snp intergenic LOC101929231 rs1437951 0.39357 0 0 1 0 0 intergenic intergenic intergenic LOC101929231(dist=109844),RND3(dist=510115) U6(dist=347304),TRNA_Pseudo(dist=404685) ENSG00000162947(dist=98887),ENSG00000230645(dist=213345) Na Na Na Na Na Na Het;T>C 94;4|4 Ref Hom;T>C 88;0|4 N N - 2 150865870 150865870 A G snp intergenic LOC101929231 rs1540482 0.279752 0 0 1 0 0 intergenic intergenic intergenic LOC101929231(dist=161122),RND3(dist=458837) U6(dist=398582),TRNA_Pseudo(dist=353407) ENSG00000162947(dist=150165),ENSG00000230645(dist=162067) Na Na Na Na Na Na Het;A>G 203;8|11 Het;A>G 158;14|9 Hom;A>G 488;0|19 N N - 2 151328284 151328285 GA G indel intronic RND3 Rnd3 ENSG00000115963 Rho family GTPase 3 chr2:151324709-151395525 This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] Respiration Disorders; Body Height; Glucose; Body Mass Index; Blood Pressure; Calcium; Diabetes Mellitus, Type 2; Stroke; Sleep Mice homozygous for a mutation in this gene display premature death with postnatal growth retardation and wasting, delayed development, absence of the common peroneal nerve and impaired motor capabilities. GO:0007155;cell adhesion;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0030036;actin cytoskeleton organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RND3 https://www.uniprot.org/uniprot/P61587 https://www.ncbi.nlm.nih.gov/omim/?term=602924 http://www.informatics.jax.org/searchtool/Search.do?query=RND3&submit=Quick%0D%4682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RND3 rs11338446 0 0 0.8162 1 0 0 intronic intronic intronic RND3 RND3 ENSG00000115963 Na Na Na Na Na Na Het;-A 508;4|26 Het;-A 418;4|22 Hom;-A 808;2|39 N N - 2 152500449 152500449 C G snp nonsynonymous SNV G7839C K2613N polar,hydrophilic,charged(+) polar,hydrophilic,neutral NEB Neb ENSG00000183091 nebulin chr2:152341850-152591001 This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. Striated Muscle Contraction GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS http://www.genecards.org/index.php?path=/Search/keyword/NEB https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=161650 http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB rs13013209 0.293331 0.3498 0.4150 0.62 8 13 exonic exonic exonic NEB NEB ENSG00000183091 nonsynonymous SNV nonsynonymous SNV unknown NEB:NM_001271208:exon57:c.G7839C:p.K2613N,NEB:NM_001164508:exon57:c.G7839C:p.K2613N,NEB:NM_001164507:exon57:c.G7839C:p.K2613N,NEB:NM_004543:exon57:c.G7839C:p.K2613N, NEB:uc010fnx.3:exon57:c.G7839C:p.K2613N,NEB:uc031rpp.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrc.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrd.1:exon57:c.G7839C:p.K2613N,NEB:uc002txu.3:exon57:c.G7839C:p.K2613N,NEB:uc021vrb.1:exon55:c.G7839C:p.K2613N, UNKNOWN Het;C>G 564;19|19 Het;C>G 328;26|17 Hom;C>G 887;0|33 N N - 2 153378459 153378459 T C snp synonymous SNV T120C N40N polar,hydrophilic,neutral polar,hydrophilic,neutral FMNL2 Fmnl2 ENSG00000157827 formin like 2 chr2:153191751-153506348 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] Blood Pressure; Bilirubin; Autism; Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder RHO GTPases Activate Formins GO:0007010;cytoskeleton organization;IMP|GO:0016043;cellular component organization;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0030866;cortical actin cytoskeleton organization;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FMNL2 https://www.ncbi.nlm.nih.gov/omim/?term=616285 http://www.informatics.jax.org/searchtool/Search.do?query=FMNL2&submit=Quick%0D%10134ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL2 rs4664114 0.690695 0.6543 0.6840 1 0 0 exonic exonic exonic FMNL2 FMNL2 ENSG00000157827 synonymous SNV synonymous SNV unknown FMNL2:NM_052905:exon2:c.T120C:p.N40N, FMNL2:uc002tye.3:exon2:c.T120C:p.N40N, UNKNOWN Het;T>C 756;44|35 Het;T>C 1060;39|47 Hom;T>C 2513;0|91 N N - 2 153378574 153378574 A G snp intronic FMNL2 Fmnl2 ENSG00000157827 formin like 2 chr2:153191751-153506348 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] Blood Pressure; Bilirubin; Autism; Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder RHO GTPases Activate Formins GO:0007010;cytoskeleton organization;IMP|GO:0016043;cellular component organization;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0030866;cortical actin cytoskeleton organization;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FMNL2 https://www.ncbi.nlm.nih.gov/omim/?term=616285 http://www.informatics.jax.org/searchtool/Search.do?query=FMNL2&submit=Quick%0D%10134ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL2 rs4664592 0.538738 0.5554 0.5881 1 0 0 intronic intronic intronic FMNL2 FMNL2 ENSG00000157827 Na Na Na Na Na Na Het;A>G 582;26|25 Het;A>G 782;31|34 Hom;A>G 1750;2|64 N N - 2 153378652 153378652 G A snp intronic FMNL2 Fmnl2 ENSG00000157827 formin like 2 chr2:153191751-153506348 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] Blood Pressure; Bilirubin; Autism; Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder RHO GTPases Activate Formins GO:0007010;cytoskeleton organization;IMP|GO:0016043;cellular component organization;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0030866;cortical actin cytoskeleton organization;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003779;actin binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FMNL2 https://www.ncbi.nlm.nih.gov/omim/?term=616285 http://www.informatics.jax.org/searchtool/Search.do?query=FMNL2&submit=Quick%0D%10134ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMNL2 rs4664593 0.538538 0 0 1 0 0 intronic intronic intronic FMNL2 FMNL2 ENSG00000157827 Na Na Na Na Na Na Het;G>A 65;6|3 Het;G>A 90;4|4 Hom;G>A 366;0|10 N N - 2 154017833 154017833 G A snp intergenic ARL6IP6 Arl6ip6 ENSG00000177917 ADP ribosylation factor like GTPase 6 interacting protein 6 chr2:153574407-153617767 CD40 Ligand; Follicle Stimulating Hormone; Atrial Natriuretic Factor GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARL6IP6 https://hpo.jax.org/app/browse/search?q=ARL6IP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616495 http://www.informatics.jax.org/searchtool/Search.do?query=ARL6IP6&submit=Quick%0D%14103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL6IP6 rs7598632 0.690495 0 0 1 0 0 intergenic intergenic intergenic ARL6IP6(dist=400066),RPRM(dist=316019) ARL6IP6(dist=400066),RPRM(dist=316019) ENSG00000214025(dist=1636),ENSG00000224612(dist=10668) Na Na Na Na Na Na Het;G>A 144;8|8 Het;G>A 307;12|13 Hom;G>A 541;0|23 N N - 2 15417280 15417282 ATT A indel intronic NBAS Nbas ENSG00000151779 neuroblastoma amplified sequence chr2:15307032-15701454 This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012] Iron; Tobacco Use Disorder; Conduct Disorder COPI-dependent Golgi-to-ER retrograde traffic GO:0000956;nuclear-transcribed mRNA catabolic process;IMP|GO:0006810;transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:2000623;negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070939;Dsl1/NZR complex;IDA GO:0000149;SNARE binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NBAS https://www.uniprot.org/uniprot/A2RRP1 https://hpo.jax.org/app/browse/search?q=NBAS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608025 http://www.informatics.jax.org/searchtool/Search.do?query=NBAS&submit=Quick%0D%9471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBAS rs3214432 0.704872 0 0 1 0 0 intronic intronic intronic NBAS NBAS ENSG00000151779 Na Na Na Na Na Na Het;-TT 142;4|5 Het;-TT 62;9|3 Hom;-TT 368;0|9 N N - 2 15417285 15417285 T A snp intronic NBAS Nbas ENSG00000151779 neuroblastoma amplified sequence chr2:15307032-15701454 This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012] Iron; Tobacco Use Disorder; Conduct Disorder COPI-dependent Golgi-to-ER retrograde traffic GO:0000956;nuclear-transcribed mRNA catabolic process;IMP|GO:0006810;transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:2000623;negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070939;Dsl1/NZR complex;IDA GO:0000149;SNARE binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NBAS https://www.uniprot.org/uniprot/A2RRP1 https://hpo.jax.org/app/browse/search?q=NBAS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608025 http://www.informatics.jax.org/searchtool/Search.do?query=NBAS&submit=Quick%0D%9471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBAS rs75287593 0.704872 0 0 1 0 0 intronic intronic intronic NBAS NBAS ENSG00000151779 Na Na Na Na Na Na Het;T>A 151;4|5 Het;T>A 71;9|3 Hom;T>A 377;0|9 N N - 2 15448311 15448311 A T snp intronic NBAS Nbas ENSG00000151779 neuroblastoma amplified sequence chr2:15307032-15701454 This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012] Iron; Tobacco Use Disorder; Conduct Disorder COPI-dependent Golgi-to-ER retrograde traffic GO:0000956;nuclear-transcribed mRNA catabolic process;IMP|GO:0006810;transport;IEA|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0015031;protein transport;IEA|GO:2000623;negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IMP GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070939;Dsl1/NZR complex;IDA GO:0000149;SNARE binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NBAS https://www.uniprot.org/uniprot/A2RRP1 https://hpo.jax.org/app/browse/search?q=NBAS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608025 http://www.informatics.jax.org/searchtool/Search.do?query=NBAS&submit=Quick%0D%9471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBAS rs1318102 0.668331 0.5424 0.5231 1 0 0 intronic intronic intronic NBAS NBAS ENSG00000151779 Na Na Na Na Na Na Het;A>T 1618;54|72 Het;A>T 928;72|46 Hom;A>T 2733;0|96 N N - 2 158636910 158636910 G A snp synonymous SNV C270T A90A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ACVR1 Acvr1 ENSG00000115170 activin A receptor type 1 chr2:158592958-158732374 Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008] Body Height; breast cancer|prostate cancer; Forced Vital Capacity; epithelial ovarian cancer ; Narcolepsy; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Polycystic Ovary Syndrome; Death, Sudden, Cardiac; Abortion, Habitual|Infertility, Female; Intracranial Aneurysm|Stroke; prostate cancer Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development. GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001707;mesoderm formation;IEA|GO:0001755;neural crest cell migration;IEA|GO:0002526;acute inflammatory response;IEA|GO:0003143;embryonic heart tube morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;ISS|GO:0003183;mitral valve morphogenesis;IMP|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0003274;endocardial cushion fusion;ISS|GO:0003289;atrial septum primum morphogenesis;IMP|GO:0006468;protein phosphorylation;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007281;germ cell development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007369;gastrulation;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009968;negative regulation of signal transduction;IMP|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030278;regulation of ossification;IMP|GO:0030335;positive regulation of cell migration;IGI|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;IDA|GO:0032924;activin receptor signaling pathway;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IMP|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060412;ventricular septum morphogenesis;ISS|GO:0060923;cardiac muscle cell fate commitment;IMP|GO:0061312;BMP signaling pathway involved in heart development;ISS|GO:0061445;endocardial cushion cell fate commitment;IMP|GO:0071773;cellular response to BMP stimulus;IMP|GO:1905007;positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:2000017;positive regulation of determination of dorsal identity;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045177;apical part of cell;IEA|GO:0048179;activin receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;NAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0005025;transforming growth factor beta receptor activity, type I;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016361;activin receptor activity, type I;IDA|GO:0016740;transferase activity;IEA|GO:0017046;peptide hormone binding;NAS|GO:0019838;growth factor binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046332;SMAD binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IDA|GO:0050431;transforming growth factor beta binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACVR1 https://www.uniprot.org/uniprot/Q04771 https://hpo.jax.org/app/browse/search?q=ACVR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102576 http://www.informatics.jax.org/searchtool/Search.do?query=ACVR1&submit=Quick%0D%4551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR1 rs2227861 0.650958 0.6047 0.7502 1 0 0 exonic exonic exonic ACVR1 ACVR1 ENSG00000115170 synonymous SNV synonymous SNV unknown ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001105:exon4:c.C270T:p.A90A, ACVR1:uc002tzm.3:exon5:c.C270T:p.A90A,ACVR1:uc010fog.2:exon4:c.C270T:p.A90A,ACVR1:uc002tzn.3:exon4:c.C270T:p.A90A, UNKNOWN Het;G>A 1496;47|60 Het;G>A 1184;54|53 Hom;G>A 2811;0|98 N N - 2 158655883 158655883 C CAA indel intronic ACVR1 Acvr1 ENSG00000115170 activin A receptor type 1 chr2:158592958-158732374 Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008] Body Height; breast cancer|prostate cancer; Forced Vital Capacity; epithelial ovarian cancer ; Narcolepsy; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Polycystic Ovary Syndrome; Death, Sudden, Cardiac; Abortion, Habitual|Infertility, Female; Intracranial Aneurysm|Stroke; prostate cancer Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development. GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001707;mesoderm formation;IEA|GO:0001755;neural crest cell migration;IEA|GO:0002526;acute inflammatory response;IEA|GO:0003143;embryonic heart tube morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;ISS|GO:0003183;mitral valve morphogenesis;IMP|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0003274;endocardial cushion fusion;ISS|GO:0003289;atrial septum primum morphogenesis;IMP|GO:0006468;protein phosphorylation;IDA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007281;germ cell development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007369;gastrulation;IEA|GO:0007498;mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0009968;negative regulation of signal transduction;IMP|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030278;regulation of ossification;IMP|GO:0030335;positive regulation of cell migration;IGI|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;IDA|GO:0032924;activin receptor signaling pathway;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IMP|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051145;smooth muscle cell differentiation;IEA|GO:0060037;pharyngeal system development;IEA|GO:0060389;pathway-restricted SMAD protein phosphorylation;IDA|GO:0060412;ventricular septum morphogenesis;ISS|GO:0060923;cardiac muscle cell fate commitment;IMP|GO:0061312;BMP signaling pathway involved in heart development;ISS|GO:0061445;endocardial cushion cell fate commitment;IMP|GO:0071773;cellular response to BMP stimulus;IMP|GO:1905007;positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:2000017;positive regulation of determination of dorsal identity;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045177;apical part of cell;IEA|GO:0048179;activin receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;NAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0005025;transforming growth factor beta receptor activity, type I;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016361;activin receptor activity, type I;IDA|GO:0016740;transferase activity;IEA|GO:0017046;peptide hormone binding;NAS|GO:0019838;growth factor binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046332;SMAD binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048185;activin binding;IDA|GO:0050431;transforming growth factor beta binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACVR1 https://www.uniprot.org/uniprot/Q04771 https://hpo.jax.org/app/browse/search?q=ACVR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102576 http://www.informatics.jax.org/searchtool/Search.do?query=ACVR1&submit=Quick%0D%4551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACVR1 rs111834201 0.558706 0 0 1 0 0 intronic intronic intronic ACVR1 ACVR1 ENSG00000115170 Na Na Na Na Na Na Het;+AA 500;21|19 Het;+AA 298;21|13 Hom;+AA 912;0|28 N N - 2 15889096 15889096 C G snp intergenic LOC101926966 rs1862099 0.139976 0 0 1 0 0 intergenic intergenic intergenic LOC101926966(dist=30011),MYCNUT(dist=171425) AK093525(dist=30011),MYCNOS(dist=190924) ENSG00000231031(dist=4633),ENSG00000237326(dist=52775) Na Na Na Na Na Na Het;C>G 52;1|3 Ref Hom;C>G 55;0|4 N N - 2 160025639 160025639 A C snp intronic TANC1 Tanc1 ENSG00000115183 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 chr2:159825146-160089170 Coronary Artery Disease; Carotid Arteries; Bone Density; Death, Sudden, Cardiac; Cholesterol, HDL; Echocardiography; Waist Circumference Mice homozygous for a gene trap vector exhibit decreased spine density in the CA3 region and impaired spatial memory. GO:0007520;myoblast fusion;IEA|GO:0008542;visual learning;IEA|GO:0097062;dendritic spine maintenance;IEA GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TANC1 https://www.uniprot.org/uniprot/Q9C0D5 https://www.ncbi.nlm.nih.gov/omim/?term=611397 http://www.informatics.jax.org/searchtool/Search.do?query=TANC1&submit=Quick%0D%4552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TANC1 rs3796105 0.178315 0 0 1 0 0 intronic intronic intronic TANC1 TANC1 ENSG00000115183 Na Na Na Na Na Na Het;A>C 155;5|6 Het;A>C 55;3|4 Hom;A>C 170;0|5 N N - 2 160035195 160035195 C T snp synonymous SNV C2007T N669N polar,hydrophilic,neutral polar,hydrophilic,neutral TANC1 Tanc1 ENSG00000115183 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 chr2:159825146-160089170 Coronary Artery Disease; Carotid Arteries; Bone Density; Death, Sudden, Cardiac; Cholesterol, HDL; Echocardiography; Waist Circumference Mice homozygous for a gene trap vector exhibit decreased spine density in the CA3 region and impaired spatial memory. GO:0007520;myoblast fusion;IEA|GO:0008542;visual learning;IEA|GO:0097062;dendritic spine maintenance;IEA GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TANC1 https://www.uniprot.org/uniprot/Q9C0D5 https://www.ncbi.nlm.nih.gov/omim/?term=611397 http://www.informatics.jax.org/searchtool/Search.do?query=TANC1&submit=Quick%0D%4552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TANC1 rs12988603 0.159744 0.2817 0.2707 1 0 0 exonic exonic exonic TANC1 TANC1 ENSG00000115183 synonymous SNV synonymous SNV unknown TANC1:NM_001145909:exon14:c.C2007T:p.N669N,TANC1:NM_033394:exon14:c.C2031T:p.N677N, TANC1:uc010fom.1:exon9:c.C1449T:p.N483N,TANC1:uc010fol.1:exon12:c.C1713T:p.N571N,TANC1:uc002uag.3:exon14:c.C2031T:p.N677N,TANC1:uc010zcm.2:exon14:c.C2007T:p.N669N, UNKNOWN Het;C>T 1554;92|72 Het;C>T 1213;64|55 Hom;C>T 3651;0|134 N N - 2 160042198 160042198 G A snp intronic TANC1 Tanc1 ENSG00000115183 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 chr2:159825146-160089170 Coronary Artery Disease; Carotid Arteries; Bone Density; Death, Sudden, Cardiac; Cholesterol, HDL; Echocardiography; Waist Circumference Mice homozygous for a gene trap vector exhibit decreased spine density in the CA3 region and impaired spatial memory. GO:0007520;myoblast fusion;IEA|GO:0008542;visual learning;IEA|GO:0097062;dendritic spine maintenance;IEA GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TANC1 https://www.uniprot.org/uniprot/Q9C0D5 https://www.ncbi.nlm.nih.gov/omim/?term=611397 http://www.informatics.jax.org/searchtool/Search.do?query=TANC1&submit=Quick%0D%4552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TANC1 rs17494014 0.117612 0 0 1 0 0 intronic intronic intronic TANC1 TANC1 ENSG00000115183 Na Na Na Na Na Na Het;G>A 473;17|16 Het;G>A 350;11|12 Hom;G>A 414;0|14 N N - 2 160112881 160112881 G T snp nonsynonymous SNV C958A R320S polar,hydrophilic,charged(+) polar,hydrophilic,neutral WDSUB1 Wdsub1 ENSG00000196151 WD repeat, sterile alpha motif and U-box domain containing 1 chr2:160092304-160143310 GO:0016567;protein ubiquitination;IEA GO:0004842;ubiquitin-protein transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDSUB1 http://www.informatics.jax.org/searchtool/Search.do?query=WDSUB1&submit=Quick%0D%16270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDSUB1 rs7591849 0.473642 0.6223 0.5046 0.15 2 13 exonic exonic exonic WDSUB1 WDSUB1 ENSG00000196151 nonsynonymous SNV nonsynonymous SNV unknown WDSUB1:NM_001128213:exon9:c.C958A:p.R320S,WDSUB1:NM_152528:exon9:c.C958A:p.R320S,WDSUB1:NM_001128212:exon9:c.C958A:p.R320S, WDSUB1:uc002ual.4:exon9:c.C958A:p.R320S,WDSUB1:uc002uak.4:exon9:c.C958A:p.R320S,WDSUB1:uc010foo.3:exon5:c.C682A:p.R228S,WDSUB1:uc002uaj.4:exon9:c.C958A:p.R320S, UNKNOWN Het;G>T 926;58|44 Het;G>T 672;61|36 Hom;G>T 2828;2|106 N N - 2 160241936 160241936 A G snp intronic BAZ2B Baz2b ENSG00000123636 bromodomain adjacent to zinc finger domain 2B chr2:160175490-160473203 This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016] Hip; Body Mass Index; Thyrotropin; Lipids; Cholesterol, LDL; Death, Sudden, Cardiac GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BAZ2B https://www.uniprot.org/uniprot/Q9UIF8 https://www.ncbi.nlm.nih.gov/omim/?term=605683 http://www.informatics.jax.org/searchtool/Search.do?query=BAZ2B&submit=Quick%0D%5554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BAZ2B rs1469015 0.547724 0 0 1 0 0 intronic intronic intronic BAZ2B BAZ2B ENSG00000123636 Na Na Na Na Na Na Het;A>G 453;15|20 Het;A>G 373;24|17 Hom;A>G 1480;0|56 N N - 2 160737857 160737857 T TGTA indel intronic LY75 Ly75 ENSG00000054219 lymphocyte antigen 75 chr2:160628362-160761260 Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology. GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LY75 https://www.uniprot.org/uniprot/O60449 https://www.ncbi.nlm.nih.gov/omim/?term=604524 http://www.informatics.jax.org/searchtool/Search.do?query=LY75&submit=Quick%0D%970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY75 rs3835165 0.246406 0 0 1 0 0 intronic intronic intronic LY75,LY75-CD302 LY75,LY75-CD302 ENSG00000054219,ENSG00000248672 Na Na Na Na Na Na Het;+GTA 367;16|11 Ref Hom;+GTA 617;0|15 N N - 2 160873270 160873270 A G snp intronic PLA2R1 Pla2r1 ENSG00000153246 phospholipase A2 receptor 1 chr2:160788519-160919121 This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock. Synthesis of PA GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1 https://www.uniprot.org/uniprot/Q13018 https://www.ncbi.nlm.nih.gov/omim/?term=604939 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1 rs2667040 0.702676 0.7150 0.7466 1 0 0 intronic intronic intronic PLA2R1 PLA2R1 ENSG00000153246 Na Na Na Na Na Na Het;A>G 296;17|14 Het;A>G 165;20|7 Hom;A>G 674;0|22 N N - 2 160873294 160873294 T TA indel intronic PLA2R1 Pla2r1 ENSG00000153246 phospholipase A2 receptor 1 chr2:160788519-160919121 This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock. Synthesis of PA GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1 https://www.uniprot.org/uniprot/Q13018 https://www.ncbi.nlm.nih.gov/omim/?term=604939 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1 rs3833577 0.593051 0 0 1 0 0 intronic intronic intronic PLA2R1 PLA2R1 ENSG00000153246 Na Na Na Na Na Na Het;+A 68;8|5 Ref Hom;+A 344;1|14 N N - 2 160876827 160876827 A G snp intronic PLA2R1 Pla2r1 ENSG00000153246 phospholipase A2 receptor 1 chr2:160788519-160919121 This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock. Synthesis of PA GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1 https://www.uniprot.org/uniprot/Q13018 https://www.ncbi.nlm.nih.gov/omim/?term=604939 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1 rs1511213 0.702476 0 0 1 0 0 intronic intronic intronic PLA2R1 PLA2R1 ENSG00000153246 Na Na Na Na Na Na Het;A>G 737;28|26 Het;A>G 629;16|22 Hom;A>G 2290;0|83 N N - 2 160901517 160901517 A G snp synonymous SNV T261C S87S polar,hydrophilic,neutral polar,hydrophilic,neutral PLA2R1 Pla2r1 ENSG00000153246 phospholipase A2 receptor 1 chr2:160788519-160919121 This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Apolipoproteins B; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; thyroid cancer; Cholesterol, LDL; Glomerulonephritis, Membranous; Stroke; Waist-Hip Ratio; Blood Coagulation Factors Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock. Synthesis of PA GO:0001816;cytokine production;IMP|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0007165;signal transduction;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0072593;reactive oxygen species metabolic process;IDA|GO:0090238;positive regulation of arachidonic acid secretion;IEA|GO:0090399;replicative senescence;IMP|GO:0090403;oxidative stress-induced premature senescence;IMP|GO:1900138;negative regulation of phospholipase A2 activity;ISS|GO:1900139;negative regulation of arachidonic acid secretion;ISS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA|GO:0043274;phospholipase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLA2R1 https://www.uniprot.org/uniprot/Q13018 https://www.ncbi.nlm.nih.gov/omim/?term=604939 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2R1&submit=Quick%0D%9647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2R1 rs4665143 0.457268 0.4936 0.5737 1 0 0 exonic exonic exonic PLA2R1 PLA2R1 ENSG00000153246 synonymous SNV synonymous SNV unknown PLA2R1:NM_001195641:exon2:c.T261C:p.S87S,PLA2R1:NM_007366:exon2:c.T261C:p.S87S,PLA2R1:NM_001007267:exon2:c.T261C:p.S87S, PLA2R1:uc002ubf.3:exon2:c.T261C:p.S87S,PLA2R1:uc002ube.2:exon2:c.T261C:p.S87S,PLA2R1:uc010zcp.2:exon2:c.T261C:p.S87S, UNKNOWN Het;A>G 1755;67|74 Het;A>G 1676;100|75 Hom;A>G 3879;0|139 N N - 2 160968743 160968744 CA C indel intronic ITGB6 Itgb6 ENSG00000115221 integrin subunit beta 6 chr2:160956177-161128399 This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Stroke; Blood Coagulation Factors; Type 2 diabetes; blood pressure; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Brain Ischemia|Stroke Homozygotes for a targeted null mutation exhibit baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, and an impaired mucosal mast cell response to nematode infection. ECM proteoglycans GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IDA|GO:0038044;transforming growth factor-beta secretion;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034685;integrin alphav-beta6 complex;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ITGB6 https://www.uniprot.org/uniprot/P18564 https://hpo.jax.org/app/browse/search?q=ITGB6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147558 http://www.informatics.jax.org/searchtool/Search.do?query=ITGB6&submit=Quick%0D%4558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGB6 rs66470452 0.519369 0.5845 0.6190 1 0 0 intronic intronic intronic ITGB6 ITGB6 ENSG00000115221 Na Na Na Na Na Na Het;-A 1548;57|51 Het;-A 1986;55|64 Hom;-A 3701;3|103 N N - 2 160968838 160968838 G T snp intronic ITGB6 Itgb6 ENSG00000115221 integrin subunit beta 6 chr2:160956177-161128399 This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Stroke; Blood Coagulation Factors; Type 2 diabetes; blood pressure; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Brain Ischemia|Stroke Homozygotes for a targeted null mutation exhibit baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, and an impaired mucosal mast cell response to nematode infection. ECM proteoglycans GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IDA|GO:0038044;transforming growth factor-beta secretion;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034685;integrin alphav-beta6 complex;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ITGB6 https://www.uniprot.org/uniprot/P18564 https://hpo.jax.org/app/browse/search?q=ITGB6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147558 http://www.informatics.jax.org/searchtool/Search.do?query=ITGB6&submit=Quick%0D%4558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGB6 rs11895959 0.602636 0 0 1 0 0 intronic intronic intronic ITGB6 ITGB6 ENSG00000115221 Na Na Na Na Na Na Het;G>T 193;9|7 Het;G>T 506;9|17 Hom;G>T 562;0|16 N N - 2 161028992 161028992 T C snp intronic ITGB6 Itgb6 ENSG00000115221 integrin subunit beta 6 chr2:160956177-161128399 This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Stroke; Blood Coagulation Factors; Type 2 diabetes; blood pressure; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Brain Ischemia|Stroke Homozygotes for a targeted null mutation exhibit baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, and an impaired mucosal mast cell response to nematode infection. ECM proteoglycans GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0033627;cell adhesion mediated by integrin;IDA|GO:0038044;transforming growth factor-beta secretion;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034685;integrin alphav-beta6 complex;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ITGB6 https://www.uniprot.org/uniprot/P18564 https://hpo.jax.org/app/browse/search?q=ITGB6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147558 http://www.informatics.jax.org/searchtool/Search.do?query=ITGB6&submit=Quick%0D%4558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGB6 rs1037694 0.609026 0 0 1 0 0 intronic intronic intronic ITGB6 ITGB6 ENSG00000115221 Na Na Na Na Na Na Het;T>C 37;3|2 Het;T>C 170;1|7 Hom;T>C 180;0|6 N N - 2 16190616 16190616 G C snp ncRNA_exonic GACAT3 rs10929413 0.755192 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic GACAT3 MYCN(dist=103487),SNORA40(dist=189855) ENSG00000236289 Na Na Na Na Na Na Het;G>C 869;37|33 Het;G>C 555;37|26 Hom;G>C 1346;0|48 N N - 2 16190882 16190882 A G snp ncRNA_intronic GACAT3 rs934059 0.73103 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic GACAT3 MYCN(dist=103753),SNORA40(dist=189589) ENSG00000226764,ENSG00000236289 Na Na Na Na Na Na Het;A>G 280;7|10 Het;A>G 239;8|8 Hom;A>G 376;0|10 N N - 2 162890175 162890175 T C snp intronic DPP4 Dpp4 ENSG00000197635 dipeptidyl peptidase 4 chr2:162848751-162931052 The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008] Albuminuria; ovarian cancer; Bulimia; Triglycerides; Cardiovascular Diseases|Metabolic Syndrome X|Obesity, Morbid; Type 2 Diabetes| edema | rosiglitazone; Gallbladder Diseases; periodontitis; Hippocampus Homozygous mutants show hypoglycemia, hyperinsulinemia, and increased plasma glucagon-like peptide 1 in glucose tolerance tests. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) GO:0001662;behavioral fear response;IEA|GO:0001666;response to hypoxia;IDA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IDA|GO:0031295;T cell costimulation;IDA|GO:0033632;regulation of cell-cell adhesion mediated by integrin;IDA|GO:0035641;locomotory exploration behavior;IEA|GO:0036343;psychomotor behavior;IEA|GO:0042110;T cell activation;IDA|GO:0043542;endothelial cell migration;IDA|GO:0046718;viral entry into host cell;IEA|GO:0050796;regulation of insulin secretion;TAS GO:0005576;extracellular region;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;IDA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IEA|GO:0046581;intercellular canaliculus;IEA|GO:0070062;extracellular exosome;IDA|GO:0071438;invadopodium membrane;IDA GO:0001618;virus receptor activity;IDA|GO:0002020;protease binding;IPI|GO:0004177;aminopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IDA|GO:0008239;dipeptidyl-peptidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/DPP4 https://www.ncbi.nlm.nih.gov/omim/?term=102720 http://www.informatics.jax.org/searchtool/Search.do?query=DPP4&submit=Quick%0D%16682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP4 rs1558957 0.798323 0.7097 0.6765 1 0 0 intronic intronic intronic DPP4 DPP4 ENSG00000197635 Na Na Na Na Na Na Het;T>C 526;11|19 Het;T>C 266;16|13 Hom;T>C 916;0|32 N N - 2 162891848 162891848 C T snp intronic DPP4 Dpp4 ENSG00000197635 dipeptidyl peptidase 4 chr2:162848751-162931052 The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008] Albuminuria; ovarian cancer; Bulimia; Triglycerides; Cardiovascular Diseases|Metabolic Syndrome X|Obesity, Morbid; Type 2 Diabetes| edema | rosiglitazone; Gallbladder Diseases; periodontitis; Hippocampus Homozygous mutants show hypoglycemia, hyperinsulinemia, and increased plasma glucagon-like peptide 1 in glucose tolerance tests. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) GO:0001662;behavioral fear response;IEA|GO:0001666;response to hypoxia;IDA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010716;negative regulation of extracellular matrix disassembly;IDA|GO:0031295;T cell costimulation;IDA|GO:0033632;regulation of cell-cell adhesion mediated by integrin;IDA|GO:0035641;locomotory exploration behavior;IEA|GO:0036343;psychomotor behavior;IEA|GO:0042110;T cell activation;IDA|GO:0043542;endothelial cell migration;IDA|GO:0046718;viral entry into host cell;IEA|GO:0050796;regulation of insulin secretion;TAS GO:0005576;extracellular region;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;IDA|GO:0031258;lamellipodium membrane;IEA|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IEA|GO:0046581;intercellular canaliculus;IEA|GO:0070062;extracellular exosome;IDA|GO:0071438;invadopodium membrane;IDA GO:0001618;virus receptor activity;IDA|GO:0002020;protease binding;IPI|GO:0004177;aminopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IDA|GO:0008239;dipeptidyl-peptidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/DPP4 https://www.ncbi.nlm.nih.gov/omim/?term=102720 http://www.informatics.jax.org/searchtool/Search.do?query=DPP4&submit=Quick%0D%16682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP4 rs6432708 0.799121 0.7106 0.6726 1 0 0 intronic intronic intronic DPP4 DPP4 ENSG00000197635 Na Na Na Na Na Na Het;C>T 768;28|31 Het;C>T 664;28|31 Hom;C>T 2324;0|84 N N - 2 163694878 163694878 C G snp intronic KCNH7 Kcnh7 ENSG00000184611 potassium voltage-gated channel subfamily H member 7 chr2:163227917-163695240 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008] Cholesterol, HDL; Hip; Myocardial Infarction; multiple sclerosis; Body Weight; Parkinson Disease, Secondary; Creatinine; Body Weight Changes; Multiple Sclerosis; Basophils; Psoriasis; Tobacco Use Disorder; Phospholipids; Respiratory Function Tests; Body Mass Index; Type 2 Diabetes| edema | rosiglitazone Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNH7 https://www.ncbi.nlm.nih.gov/omim/?term=608169 http://www.informatics.jax.org/searchtool/Search.do?query=KCNH7&submit=Quick%0D%15243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH7 rs4667768 0.606829 0 0 1 0 0 intronic intronic intronic KCNH7 KCNH7 ENSG00000184611 Na Na Na Na Na Na Het;C>G 522;6|13 Het;C>G 304;5|9 Hom;C>G 422;0|10 N N - 2 163694886 163694886 G A snp intronic KCNH7 Kcnh7 ENSG00000184611 potassium voltage-gated channel subfamily H member 7 chr2:163227917-163695240 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008] Cholesterol, HDL; Hip; Myocardial Infarction; multiple sclerosis; Body Weight; Parkinson Disease, Secondary; Creatinine; Body Weight Changes; Multiple Sclerosis; Basophils; Psoriasis; Tobacco Use Disorder; Phospholipids; Respiratory Function Tests; Body Mass Index; Type 2 Diabetes| edema | rosiglitazone Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNH7 https://www.ncbi.nlm.nih.gov/omim/?term=608169 http://www.informatics.jax.org/searchtool/Search.do?query=KCNH7&submit=Quick%0D%15243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH7 rs4667769 0.439097 0 0 1 0 0 intronic intronic intronic KCNH7 KCNH7 ENSG00000184611 Na Na Na Na Na Na Het;G>A 630;7|18 Het;G>A 323;6|10 Hom;G>A 544;0|14 N N - 2 165476253 165476253 A T snp nonsynonymous SNV T268A F90I aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GRB14 Grb14 ENSG00000115290 growth factor receptor bound protein 14 chr2:165349322-165478358 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2 Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. Tie2 Signaling GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/GRB14 https://www.uniprot.org/uniprot/Q14449 https://www.ncbi.nlm.nih.gov/omim/?term=601524 http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14 rs61748245 0.443091 0.5238 0.6060 0.23 3 13 exonic exonic exonic GRB14 GRB14 ENSG00000115290 nonsynonymous SNV nonsynonymous SNV unknown GRB14:NM_004490:exon2:c.T268A:p.F90I, GRB14:uc002ucl.3:exon2:c.T268A:p.F90I, UNKNOWN Het;A>T 1435;60|68 Het;A>T 990;69|54 Hom;A>T 2442;0|91 N N - 2 165477903 165477903 G C snp UTR5 -84C>G GRB14 Grb14 ENSG00000115290 growth factor receptor bound protein 14 chr2:165349322-165478358 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2 Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. Tie2 Signaling GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/GRB14 https://www.uniprot.org/uniprot/Q14449 https://www.ncbi.nlm.nih.gov/omim/?term=601524 http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14 rs62173895 0.442492 0 0 1 0 0 UTR5 UTR5 UTR5 GRB14(NM_004490:c.-84C>G) GRB14(uc002ucl.3:c.-84C>G) ENSG00000115290(ENST00000263915:c.-84C>G,ENST00000446413:c.-103C>G) Na Na Na Na Na Na Het;G>C 432;9|18 Het;G>C 105;8|4 Hom;G>C 428;0|15 N N - 2 165578581 165578581 A G snp intronic COBLL1 Cobll1 ENSG00000082438 cordon-bleu WH2 repeat protein like 1 chr2:165510134-165700189 Forced Expiratory Volume; Triglycerides; Stroke; Tobacco Use Disorder; Cholesterol, HDL; Coronary Disease; Alcoholism GO:0030041;actin filament polymerization;IBA|GO:0051639;actin filament network formation;IBA GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COBLL1 https://www.uniprot.org/uniprot/Q53SF7 https://www.ncbi.nlm.nih.gov/omim/?term=610318 http://www.informatics.jax.org/searchtool/Search.do?query=COBLL1&submit=Quick%0D%1801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBLL1 rs6414069 0.599241 0.6678 0.5770 1 0 0 intronic intronic intronic COBLL1 COBLL1 ENSG00000082438 Na Na Na Na Na Na Het;A>G 1538;57|68 Het;A>G 1076;68|53 Hom;A>G 2711;0|97 N N - 2 165579159 165579159 G C snp UTR5 -159C>G COBLL1 Cobll1 ENSG00000082438 cordon-bleu WH2 repeat protein like 1 chr2:165510134-165700189 Forced Expiratory Volume; Triglycerides; Stroke; Tobacco Use Disorder; Cholesterol, HDL; Coronary Disease; Alcoholism GO:0030041;actin filament polymerization;IBA|GO:0051639;actin filament network formation;IBA GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COBLL1 https://www.uniprot.org/uniprot/Q53SF7 https://www.ncbi.nlm.nih.gov/omim/?term=610318 http://www.informatics.jax.org/searchtool/Search.do?query=COBLL1&submit=Quick%0D%1801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBLL1 rs6432802 0.599042 0 0 1 0 0 intronic UTR5 intronic COBLL1 COBLL1(uc002uco.3:c.-159C>G) ENSG00000082438 Na Na Na Na Na Na Het;G>C 174;10|6 Het;G>C 149;9|5 Hom;G>C 478;0|12 N N - 2 165584407 165584407 C T snp intronic COBLL1 Cobll1 ENSG00000082438 cordon-bleu WH2 repeat protein like 1 chr2:165510134-165700189 Forced Expiratory Volume; Triglycerides; Stroke; Tobacco Use Disorder; Cholesterol, HDL; Coronary Disease; Alcoholism GO:0030041;actin filament polymerization;IBA|GO:0051639;actin filament network formation;IBA GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COBLL1 https://www.uniprot.org/uniprot/Q53SF7 https://www.ncbi.nlm.nih.gov/omim/?term=610318 http://www.informatics.jax.org/searchtool/Search.do?query=COBLL1&submit=Quick%0D%1801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBLL1 rs12692743 0.599042 0 0 1 0 0 intronic intronic intronic COBLL1 COBLL1 ENSG00000082438 Na Na Na Na Na Na Het;C>T 52;10|3 Het;C>T 214;5|8 Hom;C>T 559;0|16 N N - 2 167137119 167137119 G A snp ncRNA_intronic BC051759 rs6432893 0.545727 0.5616 0.5274 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929680 BC051759 ENSG00000236107 Na Na Na Na Na Na Het;G>A 178;22|12 Het;G>A 387;18|19 Hom;G>A 860;0|33 N N - 2 167140838 167140838 C T snp ncRNA_intronic BC051759 rs7607896 0.544529 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929680 BC051759 ENSG00000236107 Na Na Na Na Na Na Het;C>T 295;3|9 Het;C>T 64;5|3 Hom;C>T 287;0|8 N N - 2 167144974 167144974 A T snp synonymous SNV T1287A R429R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SCN9A Scn9a ENSG00000169432 sodium voltage-gated channel alpha subunit 9 chr2:167051695-167232503 This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN9A https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603415 http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A rs6747673 0.546725 0.5624 0.4944 1 0 0 exonic exonic exonic SCN9A SCN9A ENSG00000169432 synonymous SNV synonymous SNV unknown SCN9A:NM_002977:exon10:c.T1287A:p.R429R, SCN9A:uc002udr.1:exon7:c.T900A:p.R300R,SCN9A:uc002uds.1:exon7:c.T900A:p.R300R,SCN9A:uc002udt.1:exon7:c.T900A:p.R300R,SCN9A:uc010fpl.3:exon10:c.T1287A:p.R429R, UNKNOWN Het;A>T 324;37|17 Het;A>T 751;42|37 Hom;A>T 1435;0|52 N N - 2 167144995 167144995 T C snp synonymous SNV A1266G E422E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SCN9A Scn9a ENSG00000169432 sodium voltage-gated channel alpha subunit 9 chr2:167051695-167232503 This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN9A https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603415 http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A rs13402180 0.354433 0.3866 0.3730 1 0 0 exonic exonic exonic SCN9A SCN9A ENSG00000169432 synonymous SNV synonymous SNV unknown SCN9A:NM_002977:exon10:c.A1266G:p.E422E, SCN9A:uc002udr.1:exon7:c.A879G:p.E293E,SCN9A:uc002uds.1:exon7:c.A879G:p.E293E,SCN9A:uc002udt.1:exon7:c.A879G:p.E293E,SCN9A:uc010fpl.3:exon10:c.A1266G:p.E422E, UNKNOWN Het;T>C 451;43|22 Het;T>C 1071;52|47 Hom;T>C 1632;0|62 N N - 2 167145142 167145142 A G snp synonymous SNV T1119C A373A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SCN9A Scn9a ENSG00000169432 sodium voltage-gated channel alpha subunit 9 chr2:167051695-167232503 This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] personality; Abnormalities, Multiple|Epilepsy|Seizures, Febrile|Syndrome; Migraine without Aura; Pain; Tobacco Use Disorder; Insulin Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006954;inflammatory response;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0019228;neuronal action potential;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0048266;behavioral response to pain;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA|GO:0031402;sodium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN9A https://hpo.jax.org/app/browse/search?q=SCN9A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603415 http://www.informatics.jax.org/searchtool/Search.do?query=SCN9A&submit=Quick%0D%12493ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN9A rs13414203 0.354433 0.3852 0.3740 1 0 0 exonic exonic exonic SCN9A SCN9A ENSG00000169432 synonymous SNV synonymous SNV unknown SCN9A:NM_002977:exon10:c.T1119C:p.A373A, SCN9A:uc002udr.1:exon7:c.T732C:p.A244A,SCN9A:uc002uds.1:exon7:c.T732C:p.A244A,SCN9A:uc002udt.1:exon7:c.T732C:p.A244A,SCN9A:uc010fpl.3:exon10:c.T1119C:p.A373A, UNKNOWN Het;A>G 427;66|25 Het;A>G 926;50|41 Hom;A>G 2162;0|80 N N - 2 167149693 167149693 G A snp ncRNA_intronic BC051759 rs7588632 0.741613 0.6948 0.6574 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929680 BC051759 ENSG00000236107 Na Na Na Na Na Na Het;G>A 395;2|15 Het;G>A 342;21|17 Hom;G>A 1194;0|43 N N - 2 167155188 167155188 C T snp ncRNA_intronic BC051759 rs4632359 0.353035 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929680 BC051759 ENSG00000236107 Na Na Na Na Na Na Het;C>T 860;52|38 Het;C>T 969;40|41 Hom;C>T 3332;0|117 N N - 2 167155419 167155419 T C snp ncRNA_intronic BC051759 rs6754023 0.355032 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929680 BC051759 ENSG00000236107 Na Na Na Na Na Na Het;T>C 726;25|22 Het;T>C 783;19|23 Hom;T>C 1289;1|35 N N - 2 167155438 167155438 T G snp ncRNA_intronic BC051759 rs6754031 0.355032 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929680 BC051759 ENSG00000236107 Na Na Na Na Na Na Het;T>G 622;16|17 Het;T>G 661;11|17 Hom;T>G 779;0|17 N N - 2 167313337 167313337 T G snp intronic SCN7A Scn7a ENSG00000136546 sodium voltage-gated channel alpha subunit 7 chr2:167260083-167350757 This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] hypertension; Frontal Lobe; Amyotrophic lateral sclerosis; Cholesterol, HDL; left ventricular function; Amyotrophic Lateral Sclerosis Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006936;muscle contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055078;sodium ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0097386;glial cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN7A https://www.uniprot.org/uniprot/Q01118 https://www.ncbi.nlm.nih.gov/omim/?term=182392 http://www.informatics.jax.org/searchtool/Search.do?query=SCN7A&submit=Quick%0D%7366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN7A rs7593207 0.588658 0 0.4882 1 0 0 intronic intronic intronic SCN7A SCN7A ENSG00000136546 Na Na Na Na Na Na Het;T>G 438;8|12 Het;T>G 435;7|12 Hom;T>G 1050;0|26 N N - 2 167328750 167328750 C T snp intronic SCN7A Scn7a ENSG00000136546 sodium voltage-gated channel alpha subunit 7 chr2:167260083-167350757 This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] hypertension; Frontal Lobe; Amyotrophic lateral sclerosis; Cholesterol, HDL; left ventricular function; Amyotrophic Lateral Sclerosis Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006936;muscle contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055078;sodium ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0097386;glial cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN7A https://www.uniprot.org/uniprot/Q01118 https://www.ncbi.nlm.nih.gov/omim/?term=182392 http://www.informatics.jax.org/searchtool/Search.do?query=SCN7A&submit=Quick%0D%7366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN7A rs2293567 0.685903 0 0 1 0 0 intronic intronic intronic SCN7A SCN7A ENSG00000136546 Na Na Na Na Na Na Het;C>T 164;6|5 Het;C>T 249;9|11 Hom;C>T 982;0|24 N N - 2 167334085 167334085 G T snp nonsynonymous SNV C122A T41N polar,hydrophilic,neutral polar,hydrophilic,neutral SCN7A Scn7a ENSG00000136546 sodium voltage-gated channel alpha subunit 7 chr2:167260083-167350757 This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] hypertension; Frontal Lobe; Amyotrophic lateral sclerosis; Cholesterol, HDL; left ventricular function; Amyotrophic Lateral Sclerosis Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. Phase 0 - rapid depolarisation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;TAS|GO:0006936;muscle contraction;TAS|GO:0019228;neuronal action potential;IBA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0055078;sodium ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0001518;voltage-gated sodium channel complex;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0097386;glial cell projection;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005248;voltage-gated sodium channel activity;TAS|GO:0005272;sodium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCN7A https://www.uniprot.org/uniprot/Q01118 https://www.ncbi.nlm.nih.gov/omim/?term=182392 http://www.informatics.jax.org/searchtool/Search.do?query=SCN7A&submit=Quick%0D%7366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCN7A rs7565062 0.688698 0.7017 0.7247 0.15 2 13 exonic exonic exonic SCN7A SCN7A ENSG00000136546 nonsynonymous SNV nonsynonymous SNV unknown SCN7A:NM_002976:exon2:c.C122A:p.T41N, SCN7A:uc002udu.2:exon2:c.C122A:p.T41N,SCN7A:uc002udv.1:exon2:c.C122A:p.T41N, UNKNOWN Het;G>T 520;27|22 Het;G>T 775;48|38 Hom;G>T 2638;0|96 N N - 2 168465956 168465956 G C snp intergenic XIRP2 Xirp2 ENSG00000163092 xin actin binding repeat containing 2 chr2:167744997-168116263 Triglycerides; Autism; Myocardial Infarction; Monocyte Chemoattractant Protein-1; Heart Rate; Heroin Dependence; autism; Echocardiography; Respiratory Function Tests; multiple sclerosis; Hip; C-Reactive Protein; Tobacco Use Disorder Homozygous null mice exhibit severe growth retardation, abnormal myocardial fiber morphology, failure of intercalated disc maturation, cardiac conduction and ventricular septal defects, altered ionic currents in cardiomyocytes, and postnatal lethality. GO:0003281;ventricular septum development;IEA|GO:0007507;heart development;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0045216;cell-cell junction organization;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA GO:0030018;Z disc;IEA|GO:0030054;cell junction;IEA GO:0003779;actin binding;IEA|GO:0051393;alpha-actinin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/XIRP2 https://www.ncbi.nlm.nih.gov/omim/?term=609778 http://www.informatics.jax.org/searchtool/Search.do?query=XIRP2&submit=Quick%0D%10876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XIRP2 rs12612088 0.771565 0 0 1 0 0 intergenic intergenic intergenic XIRP2(dist=349695),B3GALT1(dist=209226) XIRP2(dist=349695),B3GALT1(dist=209226) ENSG00000228222(dist=51113),ENSG00000238357(dist=22034) Na Na Na Na Na Na Het;G>C 183;19|9 Het;G>C 282;23|14 Hom;G>C 1139;0|43 N N - 2 169487610 169487611 GT G indel intronic CERS6 Cers6 ENSG00000172292 ceramide synthase 6 chr2:169312372-169631644 response to TNF antagonist treatment; Tobacco Use Disorder Mice homozygous for a knockout allele exhibit hind limb clasping, habituation deficit and altered lipid homeostasis. Sphingolipid de novo biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0046513;ceramide biosynthetic process;IBA GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0003677;DNA binding;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CERS6 https://www.ncbi.nlm.nih.gov/omim/?term=615336 http://www.informatics.jax.org/searchtool/Search.do?query=CERS6&submit=Quick%0D%13123ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS6 rs11347055 0.892372 0 0 1 0 0 intronic intronic intronic CERS6 CERS6 ENSG00000172292 Na Na Na Na Na Na Het;-T 294;7|16 Het;-T 344;5|18 Hom;-T 231;1|12 N N - 2 170606984 170606984 C CAA indel UTR3 *742C>CAA KLHL23 Klhl23 ENSG00000213160 kelch like family member 23 chr2:170550998-170633499 GO:0016567;protein ubiquitination;IEA GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KLHL23 http://www.informatics.jax.org/searchtool/Search.do?query=KLHL23&submit=Quick%0D%18092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL23 rs376694302 0.844649 0 0 1 0 0 UTR3 UTR3 UTR3 KLHL23(NM_144711:c.*742C>CAA),PHOSPHO2-KLHL23(NM_001199290:c.*742C>CAA) KLHL23(uc002ufi.2:c.*742C>CAA),PHOSPHO2-KLHL23(uc002ufh.2:c.*742C>CAA) ENSG00000213160(ENST00000392647:c.*742C>CAA) Na Na Na Na Na Na Het;+AA 621;6|29 Het;+AA 287;2|12 Hom;+AA 286;2|10 N N - 2 177043971 177043971 G A snp ncRNA_intronic HOXD-AS1 rs1374325 0.172324 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic HAGLR HOXD-AS1 ENSG00000224189 Na Na Na Na Na Na Het;G>A 104;5|4 Ref Hom;G>A 152;0|5 N N - 2 17888457 17888457 G A snp intronic SMC6 Smc6 ENSG00000163029 structural maintenance of chromosomes 6 chr2:17845079-17981509 The structural maintenance of chromosomes (SMC) protein complexes, called SMC5/6 , involved in numerous crucial processes during human spermatogenesis, such as in spermatogonial development, on the SC between synapsed chromosomes, and in DNA double-strand break repair on unsynapsed chromosomes during pachynema Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. SUMOylation of DNA damage response and repair proteins GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP|GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP GO:0000781;chromosome, telomeric region;IDA|GO:0000803;sex chromosome;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016605;PML body;IDA|GO:0016607;nuclear speck;IEA|GO:0030915;Smc5-Smc6 complex;IDA|GO:0035061;interchromatin granule;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMC6 https://www.uniprot.org/uniprot/Q96SB8 https://www.ncbi.nlm.nih.gov/omim/?term=609387 http://www.informatics.jax.org/searchtool/Search.do?query=SMC6&submit=Quick%0D%25ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC6 rs6734462 0.420527 0.5511 0.4130 1 0 0 intronic intronic intronic SMC6 SMC6 ENSG00000163029 Na Na Na Na Na Na Het;G>A 518;25|23 Het;G>A 926;25|38 Hom;G>A 1911;2|68 N N - 2 17890091 17890091 G GTATA indel intronic SMC6 Smc6 ENSG00000163029 structural maintenance of chromosomes 6 chr2:17845079-17981509 The structural maintenance of chromosomes (SMC) protein complexes, called SMC5/6 , involved in numerous crucial processes during human spermatogenesis, such as in spermatogonial development, on the SC between synapsed chromosomes, and in DNA double-strand break repair on unsynapsed chromosomes during pachynema Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. SUMOylation of DNA damage response and repair proteins GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP|GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP GO:0000781;chromosome, telomeric region;IDA|GO:0000803;sex chromosome;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016605;PML body;IDA|GO:0016607;nuclear speck;IEA|GO:0030915;Smc5-Smc6 complex;IDA|GO:0035061;interchromatin granule;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMC6 https://www.uniprot.org/uniprot/Q96SB8 https://www.ncbi.nlm.nih.gov/omim/?term=609387 http://www.informatics.jax.org/searchtool/Search.do?query=SMC6&submit=Quick%0D%25ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC6 rs10657992 0 0 0 1 0 0 intronic intronic intronic SMC6 SMC6 ENSG00000163029 Na Na Na Na Na Na Het;+TATA 733;9|19 Het;+TATA 327;17|10 Hom;+TATA 931;0|22 N N - 2 17898326 17898326 C T snp intronic SMC6 Smc6 ENSG00000163029 structural maintenance of chromosomes 6 chr2:17845079-17981509 The structural maintenance of chromosomes (SMC) protein complexes, called SMC5/6 , involved in numerous crucial processes during human spermatogenesis, such as in spermatogonial development, on the SC between synapsed chromosomes, and in DNA double-strand break repair on unsynapsed chromosomes during pachynema Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. SUMOylation of DNA damage response and repair proteins GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP|GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP GO:0000781;chromosome, telomeric region;IDA|GO:0000803;sex chromosome;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016605;PML body;IDA|GO:0016607;nuclear speck;IEA|GO:0030915;Smc5-Smc6 complex;IDA|GO:0035061;interchromatin granule;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMC6 https://www.uniprot.org/uniprot/Q96SB8 https://www.ncbi.nlm.nih.gov/omim/?term=609387 http://www.informatics.jax.org/searchtool/Search.do?query=SMC6&submit=Quick%0D%25ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC6 rs12469221 0.420327 0.5520 0.4052 1 0 0 intronic intronic intronic SMC6 SMC6 ENSG00000163029 Na Na Na Na Na Na Het;C>T 289;18|14 Het;C>T 62;8|4 Hom;C>T 830;0|27 N N - 2 17899584 17899584 T G snp intronic SMC6 Smc6 ENSG00000163029 structural maintenance of chromosomes 6 chr2:17845079-17981509 The structural maintenance of chromosomes (SMC) protein complexes, called SMC5/6 , involved in numerous crucial processes during human spermatogenesis, such as in spermatogonial development, on the SC between synapsed chromosomes, and in DNA double-strand break repair on unsynapsed chromosomes during pachynema Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. SUMOylation of DNA damage response and repair proteins GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP|GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP GO:0000781;chromosome, telomeric region;IDA|GO:0000803;sex chromosome;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016605;PML body;IDA|GO:0016607;nuclear speck;IEA|GO:0030915;Smc5-Smc6 complex;IDA|GO:0035061;interchromatin granule;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMC6 https://www.uniprot.org/uniprot/Q96SB8 https://www.ncbi.nlm.nih.gov/omim/?term=609387 http://www.informatics.jax.org/searchtool/Search.do?query=SMC6&submit=Quick%0D%25ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC6 rs9679094 0.386781 0 0 1 0 0 intronic intronic intronic SMC6 SMC6 ENSG00000163029 Na Na Na Na Na Na Het;T>G 425;15|14 Het;T>G 409;7|12 Hom;T>G 713;0|23 N N - 2 17927275 17927275 C T snp UTR5 -62G>A SMC6 Smc6 ENSG00000163029 structural maintenance of chromosomes 6 chr2:17845079-17981509 The structural maintenance of chromosomes (SMC) protein complexes, called SMC5/6 , involved in numerous crucial processes during human spermatogenesis, such as in spermatogonial development, on the SC between synapsed chromosomes, and in DNA double-strand break repair on unsynapsed chromosomes during pachynema Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. SUMOylation of DNA damage response and repair proteins GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP|GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051984;positive regulation of chromosome segregation;IMP|GO:0090398;cellular senescence;IMP GO:0000781;chromosome, telomeric region;IDA|GO:0000803;sex chromosome;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016605;PML body;IDA|GO:0016607;nuclear speck;IEA|GO:0030915;Smc5-Smc6 complex;IDA|GO:0035061;interchromatin granule;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMC6 https://www.uniprot.org/uniprot/Q96SB8 https://www.ncbi.nlm.nih.gov/omim/?term=609387 http://www.informatics.jax.org/searchtool/Search.do?query=SMC6&submit=Quick%0D%25ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC6 rs12474069 0.426717 0 0 1 0 0 intronic UTR5 intronic SMC6 SMC6(uc002rcr.1:c.-62G>A) ENSG00000163029 Na Na Na Na Na Na Het;C>T 279;12|12 Het;C>T 244;11|12 Hom;C>T 689;0|23 N N - 2 181458140 181458140 C CTCTT indel ncRNA_intronic AC009478.1 rs10629548 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic CWC22(dist=586360),SCHLAP1(dist=98691) CWC22(dist=586300),SChLAP1(dist=98691) ENSG00000225258 Na Na Na Na Na Na Het;+TCTT 469;12|21 Ref Hom;+TCTT 1022;2|36 N N - 2 185326455 185326455 T G snp intergenic MIR548AE1 rs1966770 0.603634 0 0 1 0 0 intergenic intergenic intergenic MIR548AE1(dist=82684),ZNF804A(dist=136638) NUP35(dist=1300047),ZNF804A(dist=136638) ENSG00000266808(dist=82684),ENSG00000170396(dist=136638) Na Na Na Na Na Na Het;T>G 73;3|3 Ref Hom;T>G 63;0|3 N N - 2 187559047 187559047 G GCAA indel nonframeshift substitution 147_147delinsGCAA FAM171B Fam171b ENSG00000144369 family with sequence similarity 171 member B chr2:187558698-187630685 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM171B https://www.uniprot.org/uniprot/Q6P995 http://www.informatics.jax.org/searchtool/Search.do?query=FAM171B&submit=Quick%0D%8600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM171B rs144403657 0.519569 0.5316 0.4639 1 0 0 exonic exonic exonic FAM171B FAM171B ENSG00000144369 nonframeshift substitution nonframeshift substitution unknown FAM171B:NM_177454:exon1:c.147_147delinsGCAA, FAM171B:uc002ups.3:exon1:c.147_147delinsGCAA,FAM171B:uc002upr.1:exon1:c.147_147delinsGCAA, UNKNOWN Het;+CAA 644;6|24 Het;+CAA 882;3|24 Hom;+CAA 1134;0|30 N N - 2 18757501 18757501 G C snp synonymous SNV C1509G L503L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NT5C1B Nt5c1b ENSG00000185013 5'-nucleotidase, cytosolic IB chr2:18737050-18770838 Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] Apolipoproteins C; C-Reactive Protein; Cardiovascular Diseases; Glucose; Triglycerides; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Cognition; Stroke Purine catabolism GO:0006195;purine nucleotide catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0008253;5'-nucleotidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5C1B https://www.ncbi.nlm.nih.gov/omim/?term=610526 http://www.informatics.jax.org/searchtool/Search.do?query=NT5C1B&submit=Quick%0D%15321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C1B rs3902946 0.314297 0.3373 0.2491 1 0 0 exonic exonic exonic NT5C1B,NT5C1B-RDH14 NT5C1B,NT5C1B-RDH14 ENSG00000185013,ENSG00000250741 synonymous SNV synonymous SNV unknown NT5C1B:NM_001199087:exon9:c.C1509G:p.L503L,NT5C1B:NM_001199086:exon9:c.C1407G:p.L469L,NT5C1B:NM_001002006:exon9:c.C1458G:p.L486L,NT5C1B:NM_033253:exon8:c.C1278G:p.L426L,NT5C1B-RDH14:NM_001199104:exon9:c.C1458G:p.L486L,NT5C1B:NM_001199088:exon9:c.C1464G:p.L488L,NT5C1B-RDH14:NM_001199103:exon8:c.C1284G:p.L428L, NT5C1B:uc010yjw.2:exon9:c.C1407G:p.L469L,NT5C1B-RDH14:uc010exr.3:exon8:c.C1284G:p.L428L,NT5C1B:uc010yjv.2:exon9:c.C1509G:p.L503L,NT5C1B:uc010exs.3:exon9:c.C1464G:p.L488L,NT5C1B:uc010yju.2:exon8:c.C1278G:p.L426L,NT5C1B:uc002rda.3:exon8:c.C1278G:p.L426L,NT5C1B-RDH14:uc002rcy.3:exon9:c.C1458G:p.L486L,NT5C1B:uc002rcz.3:exon9:c.C1458G:p.L486L, UNKNOWN Het;G>C 563;16|23 Het;G>C 984;41|47 Hom;G>C 2402;0|91 N N - 2 18768850 18768850 A G snp synonymous SNV T39C P13P hydrophobic,neutral hydrophobic,neutral NT5C1B Nt5c1b ENSG00000185013 5'-nucleotidase, cytosolic IB chr2:18737050-18770838 Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] Apolipoproteins C; C-Reactive Protein; Cardiovascular Diseases; Glucose; Triglycerides; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Cognition; Stroke Purine catabolism GO:0006195;purine nucleotide catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0008253;5'-nucleotidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5C1B https://www.ncbi.nlm.nih.gov/omim/?term=610526 http://www.informatics.jax.org/searchtool/Search.do?query=NT5C1B&submit=Quick%0D%15321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C1B rs16985306 0.31849 0.3369 0.2499 1 0 0 exonic exonic exonic NT5C1B,NT5C1B-RDH14 NT5C1B,NT5C1B-RDH14 ENSG00000185013,ENSG00000250741 synonymous SNV synonymous SNV unknown NT5C1B:NM_001199087:exon2:c.T39C:p.P13P,NT5C1B:NM_001199086:exon2:c.T39C:p.P13P,NT5C1B:NM_001002006:exon2:c.T39C:p.P13P,NT5C1B:NM_033253:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199104:exon2:c.T39C:p.P13P,NT5C1B:NM_001199088:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199103:exon2:c.T39C:p.P13P, NT5C1B:uc010yjw.2:exon2:c.T39C:p.P13P,NT5C1B-RDH14:uc010exr.3:exon2:c.T39C:p.P13P,NT5C1B:uc010yjv.2:exon2:c.T39C:p.P13P,NT5C1B:uc010exs.3:exon2:c.T39C:p.P13P,NT5C1B:uc010yju.2:exon2:c.T39C:p.P13P,NT5C1B:uc002rda.3:exon2:c.T39C:p.P13P,NT5C1B-RDH14:uc002rcy.3:exon2:c.T39C:p.P13P,NT5C1B:uc002rcz.3:exon2:c.T39C:p.P13P, UNKNOWN Het;A>G 585;79|29 Het;A>G 1278;72|63 Hom;A>G 2650;5|107 N N - 2 18770540 18770540 G C snp intronic NT5C1B Nt5c1b ENSG00000185013 5'-nucleotidase, cytosolic IB chr2:18737050-18770838 Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] Apolipoproteins C; C-Reactive Protein; Cardiovascular Diseases; Glucose; Triglycerides; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Cognition; Stroke Purine catabolism GO:0006195;purine nucleotide catabolic process;TAS|GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0008253;5'-nucleotidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5C1B https://www.ncbi.nlm.nih.gov/omim/?term=610526 http://www.informatics.jax.org/searchtool/Search.do?query=NT5C1B&submit=Quick%0D%15321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C1B rs6720633 0.317292 0 0 1 0 0 intronic intronic intronic NT5C1B,NT5C1B-RDH14 NT5C1B,NT5C1B-RDH14 ENSG00000185013,ENSG00000250741 Na Na Na Na Na Na Het;G>C 158;4|5 Het;G>C 145;5|5 Hom;G>C 223;0|6 N N - 2 189923630 189923631 AT A indel intronic COL5A2 Col5a2 ENSG00000204262 collagen type V alpha 2 chain chr2:189896622-190044605 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. Collagen chain trimerization GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL5A2 https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120190 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2 rs398080909 0.722644 0 0.7242 1 0 0 intronic intronic intronic COL5A2 COL5A2 ENSG00000204262 Na Na Na Na Na Na Het;-T 1279;12|66 Het;-T 1184;14|63 Hom;-T 1969;9|99 N N - 2 189943121 189943122 GA G indel intronic COL5A2 Col5a2 ENSG00000204262 collagen type V alpha 2 chain chr2:189896622-190044605 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Tobacco Use Disorder; Infection|Inflammation|Premature Birth; Premature Birth; Intervertebral Disk Displacement; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Premature Birth; Leukocyte Count; metabolism disorders; Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. Collagen chain trimerization GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;IEA|GO:0048592;eye morphogenesis;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:1903225;negative regulation of endodermal cell differentiation;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;NAS GO:0003674;molecular_function;ND|GO:0005201;extracellular matrix structural constituent;IEA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL5A2 https://hpo.jax.org/app/browse/search?q=COL5A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120190 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A2&submit=Quick%0D%17239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A2 rs5837122 0.9375 0 0 1 0 0 intronic intronic intronic COL5A2 COL5A2 ENSG00000204262 Na Na Na Na Na Na Het;-A 88;1|6 Het;-A 52;1|5 Hom;-A 250;0|11 N N - 2 193640652 193640652 G A snp ncRNA_exonic PCGEM1 rs1439650 0.553714 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PCGEM1 PCGEM1 ENSG00000227418 Na Na Na Na Na Na Het;G>A 2033;14|88 Het;G>A 3016;18|131 Hom;G>A 2819;12|121 N N - 2 20082172 20082172 T C snp ncRNA_intronic LINC00954 rs62109397 0.117412 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00954 LINC00954 ENSG00000228784 Na Na Na Na Na Na Het;T>C 42;3|2 Ref Hom;T>C 106;0|4 N N - 2 20096936 20096936 C A snp intronic TTC32 Ttc32 ENSG00000183891 tetratricopeptide repeat domain 32 chr2:20096404-20101747 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC32 http://www.informatics.jax.org/searchtool/Search.do?query=TTC32&submit=Quick%0D%15105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC32 rs7563410 0.140974 0.0840 0.1142 1 0 0 intronic intronic intronic TTC32 TTC32 ENSG00000183891 Na Na Na Na Na Na Het;C>A 482;19|17 Het;C>A 573;31|24 Hom;C>A 1488;0|51 N N - 2 20097874 20097874 T C snp intronic TTC32 Ttc32 ENSG00000183891 tetratricopeptide repeat domain 32 chr2:20096404-20101747 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC32 http://www.informatics.jax.org/searchtool/Search.do?query=TTC32&submit=Quick%0D%15105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC32 rs12328613 0.281949 0 0 1 0 0 intronic intronic intronic TTC32 TTC32 ENSG00000183891 Na Na Na Na Na Na Het;T>C 456;13|17 Het;T>C 319;10|12 Hom;T>C 876;0|24 N N - 2 20101363 20101363 G A snp UTR5 -481C>T TTC32 Ttc32 ENSG00000183891 tetratricopeptide repeat domain 32 chr2:20096404-20101747 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC32 http://www.informatics.jax.org/searchtool/Search.do?query=TTC32&submit=Quick%0D%15105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC32 rs7584726 0.508586 0 0 1 0 0 intronic intronic UTR5 TTC32 TTC32 ENSG00000183891(ENST00000431392:c.-481C>T) Na Na Na Na Na Na Het;G>A 219;10|8 Het;G>A 235;11|11 Hom;G>A 334;0|12 N N - 2 20101487 20101487 G A snp synonymous SNV C129T S43S polar,hydrophilic,neutral polar,hydrophilic,neutral TTC32 Ttc32 ENSG00000183891 tetratricopeptide repeat domain 32 chr2:20096404-20101747 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC32 http://www.informatics.jax.org/searchtool/Search.do?query=TTC32&submit=Quick%0D%15105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC32 rs2304589 0.281749 0.1765 0.2214 1 0 0 exonic exonic exonic TTC32 TTC32 ENSG00000183891 synonymous SNV synonymous SNV unknown TTC32:NM_001008237:exon1:c.C129T:p.S43S, TTC32:uc002rdg.3:exon1:c.C129T:p.S43S, UNKNOWN Het;G>A 1312;34|52 Het;G>A 936;47|42 Hom;G>A 3125;0|117 N N - 2 20101717 20101717 A G snp UTR5 -102T>C TTC32 Ttc32 ENSG00000183891 tetratricopeptide repeat domain 32 chr2:20096404-20101747 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC32 http://www.informatics.jax.org/searchtool/Search.do?query=TTC32&submit=Quick%0D%15105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC32 rs2304588 0.124201 0 0 1 0 0 UTR5 UTR5 UTR5 TTC32(NM_001008237:c.-102T>C) TTC32(uc002rdg.3:c.-102T>C) ENSG00000183891(ENST00000402414:c.-102T>C,ENST00000333610:c.-102T>C) Na Na Na Na Na Na Het;A>G 883;18|32 Het;A>G 227;19|11 Hom;A>G 695;0|23 N N - 2 20101832 20101832 C G snp ncRNA_exonic AC013400.1 rs2278528 0.28155 0 0 1 0 0 upstream upstream ncRNA_exonic TTC32 TTC32 ENSG00000271991 Na Na Na Na Na Na Het;C>G 115;2|4 Ref Hom;C>G 132;0|4 N N - 2 201171651 201171651 C T snp intronic SPATS2L Spats2l ENSG00000196141 spermatogenesis associated serine rich 2 like chr2:201170604-201346986 HIV Infections|[X]Human immunodeficiency virus disease; Type 2 Diabetes| edema | rosiglitazone; Creatinine GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPATS2L https://www.ncbi.nlm.nih.gov/omim/?term=613817 http://www.informatics.jax.org/searchtool/Search.do?query=SPATS2L&submit=Quick%0D%16268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATS2L rs74853338 0.464457 0 0 1 0 0 intronic intronic intronic SPATS2L SPATS2L ENSG00000196141 Na Na Na Na Na Na Het;C>T 50;3|4 Ref Hom;C>T 71;0|4 N N - 2 20130145 20130145 T G snp intronic WDR35 Wdr35 ENSG00000118965 WD repeat domain 35 chr2:20110021-20189892 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] Short rib-polydactyly syndrome type V Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. Intraflagellar transport GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WDR35 https://www.uniprot.org/uniprot/Q9P2L0 https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613602 http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35 rs28502265 0.142971 0.0938 0.1148 1 0 0 intronic intronic intronic WDR35 WDR35 ENSG00000118965 Na Na Na Na Na Na Het;T>G 983;42|40 Het;T>G 697;45|34 Hom;T>G 2969;0|105 N N - 2 20135283 20135283 T C snp synonymous SNV A2496G E832E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) WDR35 Wdr35 ENSG00000118965 WD repeat domain 35 chr2:20110021-20189892 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] Short rib-polydactyly syndrome type V Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. Intraflagellar transport GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WDR35 https://www.uniprot.org/uniprot/Q9P2L0 https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613602 http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35 rs6741091 0.510783 0.4297 0.4735 1 0 0 exonic exonic exonic WDR35 WDR35 ENSG00000118965 synonymous SNV synonymous SNV unknown WDR35:NM_020779:exon21:c.A2496G:p.E832E,WDR35:NM_001006657:exon22:c.A2529G:p.E843E, WDR35:uc002rdh.3:exon15:c.A1224G:p.E408E,WDR35:uc002rdk.4:exon10:c.A1224G:p.E408E,WDR35:uc002rdi.3:exon22:c.A2529G:p.E843E,WDR35:uc002rdj.3:exon21:c.A2496G:p.E832E, UNKNOWN Het;T>C 718;29|34 Het;T>C 1283;69|64 Hom;T>C 3331;2|127 N N - 2 20136292 20136292 G A snp intronic WDR35 Wdr35 ENSG00000118965 WD repeat domain 35 chr2:20110021-20189892 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] Short rib-polydactyly syndrome type V Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. Intraflagellar transport GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WDR35 https://www.uniprot.org/uniprot/Q9P2L0 https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613602 http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35 rs6755153 0.140775 0 0 1 0 0 intronic intronic intronic WDR35 WDR35 ENSG00000118965 Na Na Na Na Na Na Het;G>A 82;1|3 Ref Hom;G>A 123;0|4 N N - 2 20137864 20137864 T C snp intronic WDR35 Wdr35 ENSG00000118965 WD repeat domain 35 chr2:20110021-20189892 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] Short rib-polydactyly syndrome type V Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. Intraflagellar transport GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WDR35 https://www.uniprot.org/uniprot/Q9P2L0 https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613602 http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35 rs2293671 0.141973 0 0 1 0 0 intronic intronic intronic WDR35 WDR35 ENSG00000118965 Na Na Na Na Na Na Het;T>C 265;5|10 Het;T>C 111;6|4 Hom;T>C 210;0|6 N N - 2 20160209 20160209 G A snp intronic WDR35 Wdr35 ENSG00000118965 WD repeat domain 35 chr2:20110021-20189892 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] Short rib-polydactyly syndrome type V Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. Intraflagellar transport GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WDR35 https://www.uniprot.org/uniprot/Q9P2L0 https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613602 http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35 rs10169398 0.140974 0 0 1 0 0 intronic intronic intronic WDR35 WDR35 ENSG00000118965 Na Na Na Na Na Na Het;G>A 32;4|2 Het;G>A 31;5|2 Hom;G>A 200;0|6 N N - 2 20189015 20189015 T C snp nonsynonymous SNV A53G Q18R polar,hydrophilic,neutral polar,hydrophilic,charged(+) WDR35 Wdr35 ENSG00000118965 WD repeat domain 35 chr2:20110021-20189892 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] Short rib-polydactyly syndrome type V Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. Intraflagellar transport GO:0009636;response to toxic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030030;cell projection organization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035721;intraciliary retrograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IBA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IEA|GO:0097421;liver regeneration;IEA|GO:0097756;negative regulation of blood vessel diameter;IEA|GO:1901555;response to paclitaxel;IEA|GO:1905705;cellular response to paclitaxel;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;ISS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;ISS|GO:0030991;intraciliary transport particle A;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WDR35 https://www.uniprot.org/uniprot/Q9P2L0 https://hpo.jax.org/app/browse/search?q=WDR35&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613602 http://www.informatics.jax.org/searchtool/Search.do?query=WDR35&submit=Quick%0D%5023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR35 rs1060742 0.11861 0.0654 0.1065 0.23 3 13 exonic exonic exonic WDR35 WDR35 ENSG00000118965 nonsynonymous SNV nonsynonymous SNV unknown WDR35:NM_020779:exon2:c.A53G:p.Q18R,WDR35:NM_001006657:exon2:c.A53G:p.Q18R, WDR35:uc002rdi.3:exon2:c.A53G:p.Q18R,WDR35:uc002rdj.3:exon2:c.A53G:p.Q18R, UNKNOWN Het;T>C 1436;65|71 Het;T>C 754;66|45 Hom;T>C 2922;0|111 N N - 2 20192696 20192696 G A snp UTR3 *176C>T MATN3 Matn3 ENSG00000132031 matrilin 3 chr2:20191872-20212455 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] multiple epiphyseal dysplasia; osteoarthritis; Degenerative arthropathy |Osteoarthritis; Alcoholism Mice homozygous for disruptions in this gene display a normal phenotype. Post-translational protein phosphorylation GO:0001501;skeletal system development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN3 https://www.uniprot.org/uniprot/O15232 https://hpo.jax.org/app/browse/search?q=MATN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602109 http://www.informatics.jax.org/searchtool/Search.do?query=MATN3&submit=Quick%0D%6623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN3 rs7569975 0.509185 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic LOC101928222 MATN3(uc002rdl.3:c.*176C>T) ENSG00000227210 Na Na Na Na Na Na Het;G>A 201;27|12 Het;G>A 629;37|30 Hom;G>A 2002;0|71 N N - 2 20194036 20194036 G C snp ncRNA_intronic AC079145.1 rs3820949 0.509385 0.4205 0.5158 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928222 MATN3 ENSG00000227210 Na Na Na Na Na Na Het;G>C 390;19|16 Het;G>C 449;24|22 Hom;G>C 1102;0|38 N N - 2 20201922 20201922 T C snp ncRNA_intronic AC079145.1 rs55977150 0.166733 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928222 MATN3 ENSG00000227210 Na Na Na Na Na Na Het;T>C 214;8|7 Het;T>C 336;6|11 Hom;T>C 414;0|11 N N - 2 20204054 20204054 C T snp ncRNA_exonic LOC101928222 rs11096633 0.34984 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928222 MATN3 ENSG00000132031 Na Na Na Na Na Na Het;C>T 2045;138|91 Het;C>T 1892;124|89 Hom;C>T 4809;0|172 N N - 2 20205423 20205423 A AAAAG indel intronic MATN3 Matn3 ENSG00000132031 matrilin 3 chr2:20191872-20212455 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] multiple epiphyseal dysplasia; osteoarthritis; Degenerative arthropathy |Osteoarthritis; Alcoholism Mice homozygous for disruptions in this gene display a normal phenotype. Post-translational protein phosphorylation GO:0001501;skeletal system development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN3 https://www.uniprot.org/uniprot/O15232 https://hpo.jax.org/app/browse/search?q=MATN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602109 http://www.informatics.jax.org/searchtool/Search.do?query=MATN3&submit=Quick%0D%6623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN3 rs3832086 0.570088 0 0 1 0 0 intronic intronic intronic MATN3 MATN3 ENSG00000132031 Na Na Na Na Na Na Het;+AAAG 351;7|10 Het;+AAAG 376;12|11 Hom;+AAAG 622;0|13 N N - 2 20205680 20205680 C T snp synonymous SNV G615A E205E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MATN3 Matn3 ENSG00000132031 matrilin 3 chr2:20191872-20212455 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] multiple epiphyseal dysplasia; osteoarthritis; Degenerative arthropathy |Osteoarthritis; Alcoholism Mice homozygous for disruptions in this gene display a normal phenotype. Post-translational protein phosphorylation GO:0001501;skeletal system development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN3 https://www.uniprot.org/uniprot/O15232 https://hpo.jax.org/app/browse/search?q=MATN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602109 http://www.informatics.jax.org/searchtool/Search.do?query=MATN3&submit=Quick%0D%6623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN3 rs28401180 0.524361 0.4300 0.4837 1 0 0 exonic exonic exonic MATN3 MATN3 ENSG00000132031 synonymous SNV synonymous SNV unknown MATN3:NM_002381:exon2:c.G615A:p.E205E, MATN3:uc002rdl.3:exon2:c.G615A:p.E205E,MATN3:uc010exu.1:exon2:c.G615A:p.E205E, UNKNOWN Het;C>T 2727;161|124 Het;C>T 3598;173|162 Hom;C>T 9134;0|323 N N - 2 20205848 20205848 G A snp synonymous SNV C447T A149A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MATN3 Matn3 ENSG00000132031 matrilin 3 chr2:20191872-20212455 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] multiple epiphyseal dysplasia; osteoarthritis; Degenerative arthropathy |Osteoarthritis; Alcoholism Mice homozygous for disruptions in this gene display a normal phenotype. Post-translational protein phosphorylation GO:0001501;skeletal system development;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN3 https://www.uniprot.org/uniprot/O15232 https://hpo.jax.org/app/browse/search?q=MATN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602109 http://www.informatics.jax.org/searchtool/Search.do?query=MATN3&submit=Quick%0D%6623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN3 rs28598872 0.52476 0.4369 0.4754 1 0 0 exonic exonic exonic MATN3 MATN3 ENSG00000132031 synonymous SNV synonymous SNV unknown MATN3:NM_002381:exon2:c.C447T:p.A149A, MATN3:uc002rdl.3:exon2:c.C447T:p.A149A,MATN3:uc010exu.1:exon2:c.C447T:p.A149A, UNKNOWN Het;G>A 2832;126|126 Het;G>A 2320;103|102 Hom;G>A 5315;2|186 N N - 2 204036545 204036545 C CT indel intronic NBEAL1 Nbeal1 ENSG00000144426 neurobeachin like 1 chr2:203879602-204091101 Alcoholism http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1 https://www.uniprot.org/uniprot/Q6ZS30 https://www.ncbi.nlm.nih.gov/omim/?term=609816 http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1 rs397933587 0.542931 0 0 1 0 0 intronic intronic intronic NBEAL1 NBEAL1 ENSG00000144426 Na Na Na Na Na Na Het;+T 115;5|9 Het;+T 147;4|9 Hom;+T 178;2|11 N N - 2 204400033 204400033 G T snp UTR5 -39957C>A RAPH1 Raph1 ENSG00000173166 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 chr2:204259068-204400133 This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Myocardial Infarction Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk. GO:0007165;signal transduction;IEA|GO:0048675;axon extension;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031252;cell leading edge;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAPH1 https://www.ncbi.nlm.nih.gov/omim/?term=609035 http://www.informatics.jax.org/searchtool/Search.do?query=RAPH1&submit=Quick%0D%13302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPH1 rs116096182 0 0 0 1 0 0 UTR5 UTR5 UTR5 RAPH1(NM_213589:c.-39957C>A,NM_203365:c.-39957C>A) RAPH1(uc002vad.3:c.-39957C>A,uc002vae.3:c.-39957C>A,uc002vaf.3:c.-39957C>A) ENSG00000173166(ENST00000319170:c.-39957C>A,ENST00000374488:c.-39957C>A,ENST00000374489:c.-39957C>A,ENST00000308091:c.-39957C>A,ENST00000453034:c.-39957C>A,ENST00000420371:c.-39957C>A) Na Na Na Na Na Na Het;G>T 56;1|4 Ref Hom;G>T 130;0|4 N N - 2 204769396 204769396 G A snp intergenic CTLA4 Ctla4 ENSG00000163599 cytotoxic T-lymphocyte associated protein 4 chr2:204732509-204738683 This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008] Asthma. total IgE. SPT; Carcinoma, Renal Cell|Colonic Neoplasms|Kidney Neoplasms|Renal Cell Carcinoma; IgE levels; asthma juvenile arthritis; cholangitis, sclerosing; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Disease Susceptibility; Hay fever|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal; Celiac Disease; rheumatoid arthritis; arthritis, juvenile; Graves' disease Graves' ophthalmopathy; Chlamydia Infections|Inflammation|Trachoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; kidney transplant complications; Monocytes; lupus erythematosus; null; diabetes, type 1 ; kidney transplantation; Arthritis, Rheumatoid|Rheumatoid Arthritis; Autoimmune Diseases|Calcinosis|Pancreatitis, Chronic; Inflammation|Venous Thromboembolism; autoimmune thyroid disease; thyroid disease, autoimmune; sarcoidosis; Multiple Sclerosis; Coronary Artery Disease|Inflammation; Colitis, Ulcerative|; Recurrence|Venous Thromboembolism; diabetes, type 1; Autoimmune Diseases|Tuberculosis, Pulmonary; Graves Disease; Diabetes mellitus type II|Diabetes Mellitus, Type 2; cardiomyopathy; Proteinuria|Purpura, Schoenlein-Henoch; lung cancer; Uveomeningoencephalitic Syndrome; Graves' ophthalmopathy; autoimmune response; cervical intraepithelial neoplasia grade 3; Carcinoma, Hepatocellular|Carcinoma, Squamous Cell|Cervical Neoplasm|Hepatitis B|Hepatitis C|Liver carcinoma|Liver neoplasms|Squamous cell carcinoma|Uterine Cervical Neoplasms; Addison's disease; autoimmune thyroid disease; liver disease, alcoholic; Asthma|; rheumatoid arthritis; Lymphoma, Non-Hodgkin; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; bronchial hyperresponsiveness; susceptibility to autoimmune disease; Brain Ischemia|Inflammation|Stroke; respiratory syncytial virus bronchiolitis; cardiomyopathy, idiopathic dilated; diabetes, autoimmune diabetes, type 2; Cholangitis, Sclerosing|Fatty Liver|Hepatitis B, Chronic|Hepatitis C, Chronic|Hepatitis, Autoimmune|Hepatitis, Chronic|Liver Cirrhosis, Alcoholic|Liver Cirrhosis, Biliary; Type 2 Diabetes| edema | rosiglitazone; psoriatic arthritis; rheumatoid arthritis; celiac disease; beta cell autoimmunity; Grave`s disease; aplastic anemia, acquired; Infection|Inflammation|Premature Birth; Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune; antibiotic-induced cutaneous allergic reactions; Hypothyroidism; spondyloarthropathies; Vitiligo; Meniere Disease; Autoimmune Diseases|; periodontitis; graft versus host disease; diabetes, type 1 thyroid disease, autoimmune; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; lymphoma, non-Hodgkin; Hashimoto's thyroiditis in an Italian population.; Fuchs heterochromic cyclitis; Sjogren's syndrome; myeloma, multiple; Rhinitis, Allergic, Seasonal; allogeneic stem cell transplantation; autoimmune hepatitis types 1 and 2; diabetes, type 2; Celiac Disease|; heart disease; liver transplant; arthritis, rheumatoid Sjogren's syndrome; Infection|Lymphohistiocytosis, Hemophagocytic; diabetes, type 2; diabetes, type 1; Graves' disease; lung cancer ; Alopecia Areata|Autoimmune Diseases; colorectal cancer; Crohn's disease; ulcerative colitis; Asthma; Melanoma; Liver Cirrhosis, Biliary; vitiligo; autoimmune disease; Coeliac; thyroid associated orbitopathy; inhibitor development, hemophilia A-related; Thyroiditis, Autoimmune; Diabetes Mellitus, Type 1|Prediabetic State; Breast Neoplasms|Mammary Neoplasms|Neoplasms; schizophrenia; Asthma|Eosinophilia; Arthritis, Rheumatoid|; Graves Disease|Hashimoto Disease|Thyroiditis, Autoimmune; Lymphocytosis|Lymphoproliferative Disorders; Diabetes Mellitus, Type 1|; endometriosis; asthma; postpartum thyroiditis.; diabetes, type 1 thyroid autoimmunity; autoimmune hepatitis; hypoparathyroidism; Hashimoto's thryoiditis; type 1 autoimmune hepatitis; diabetes, type 1 with AITD; gastric cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Sunburn; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B|Recurrence; Celiac Disease|Thyroiditis, Autoimmune; AHG deficiency disease|Hemophilia A; bipolar disorder; kidney transplant; hepatitis B, chronic; Precursor Cell Lymphoblastic Leukemia-Lymphoma; oral submucous fibrosis; Asthma. Atopy. specific IgE. total serum IgE; Graves' hyperthyroidism; Arthritis, Juvenile Rheumatoid|; Hashimoto's thyroiditis; Myocardial Infarction; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; systemic sclerosis; diabetes, type 1; celiac disease; myasthenia gravis; arthritis; Autoimmune Diseases|Calculi|Pancreatitis, Chronic|Recurrence; Colitis, Ulcerative|Hepatitis, Autoimmune|Thyroiditis, Autoimmune; graves' ophthalmopathy; Behcet Syndrome; Graves Disease|Graves' Disease; Pemphigus; anemia; thrombocytopenic purpura, idiopathic; Lymphoma, Large B-Cell, Diffuse; haemophilia A; Leukemia, Myeloid|Recurrence; celiac disease; Graves' disease; Hashimoto's thyroiditis; liver transplantation, immunosuppression after; Graves' disease Hashimoto thyroiditis; soluble cytotoxic T lymphocyte-associated antigen-4; Colitis, Ulcerative|Crohn Disease|; Uveitis, Anterior; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|; Inflammation|Premature Birth; kidney allograft function ; preeclampsia; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; HIV; breast cancer; Graves Disease|Graves' Disease|Recurrence; Hemophilia A; Lupus; diabetes mellitus; Graft vs Host Disease|Recurrence; hemophilia A; autoimmunity granulomatous disease lymphoid hyperplasia; ulcerative colitis; systemic lupus erythematosus; type 1 diabetes; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Migraine Disorders; Hepatitis C|HIV Infections; autoimmune hypothyroidism; cervical cancer; atopy; Hepatitis B, Chronic; Myasthenia Gravis; pregnancy loss, recurrent; bipolar I disorder; Graves disease; Arthritis, Rheumatoid; Psoriasis; hypothyroidism, autoimmune; Graves' disease ophthalmology; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Behcet Syndrome|Uveitis, Intermediate; cervical squamous cell carcinoma; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammation|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; hepatitis; Total IgE; indoleamine-pyrrole 2,3-dioxygenase activity; Graves Disease|Thyroid Diseases; normal variation; diabetes, latent autoimmune; coeliac disease; Vasculitis; Carcinoma, Renal Cell|Inflammation|Kidney Neoplasms|Neoplasm Metastasis; diabetes, type 1 diabetes, type 2; Chronic renal failure|Kidney Failure, Chronic; Abruptio Placentae|Pre-Eclampsia; Graves Disease|Graves Ophthalmopathy; Crohn's disease ulcerative colitis; subacute sclerosing panencephalitis; Behcet Syndrome|; Leukemia, Lymphocytic, Chronic, B-Cell; Autoimmune thyroiditis|Thyroiditis, Autoimmune; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; multiple sclerosis; hepatitis C; Graves Disease|Graves Ophthalmopathy|Hashimoto Disease; Lupus Erythematosus, Systemic; Arthritis, Rheumatoid|Liver Cirrhosis, Biliary; Hepatitis C|Remission, Spontaneous; Abortion, Spontaneous; diabetes, type 1; Graves' disease; depression; multiple myeloma; thyroiditis, Hashimoto's; thyroiditis, chronic lymphocytic; pemphigus; inflammatory bowel disease; Graves Ophthalmopathy; Celiac disease; CTLA4 CD28 haplotypes; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; arthritis, rheumatoid; thyroid orbitopathy; melanoma; Hashimoto Disease|Hypothyroidism|Postpartum Thyroiditis; Bronchitis, Chronic; Erythema Nodosum|Sarcoidosis; Diabetes Mellitus, Type 1|Polyendocrinopathies, Autoimmune|Thyroid Diseases; oral squamous cell cancer; sclerosis, systemic; Autoimmune Diseases|Celiac Disease|Diabetes Mellitus, Type 1|Endocrine System Diseases; Autoimmune Diseases|Pancreatitis, Chronic|Recurrence; Type 2 diabetes; lymphoma; melanoma|Neoplasm Metastasis; diabetes, type 2; liver disease; migraine; migraine with aura; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Autoimmune Diseases|Chagas Disease|Communicable Diseases|Dengue|Leishmaniasis, Cutaneous|Myasthenia Gravis|Pemphigus|Psoriasis; Graves' disease; ophthalmopathy, Graves'; ankylosing spondylitis; Chronic ulcerative colitis|Colitis, Ulcerative; Carcinoma, Hepatocellular|Hepatitis B|Liver Neoplasms; atopic dermatitis; myasthenia gravis; systemic lupus erythematosus ; esophageal adenocarcinoma; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Autoimmune Diseases|BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; cirrhosis, alcoholic; liver disease; Neoplasms; Diabetes Mellitus, Type 1; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; H-Thyroiditis; psoriasis; diabetes, type 1; thyroid disease, autoimmune; Pretibial myxedema; cirrhosis, biliary primary; cirrhosis, biliary primary; hepatitis, autoimmune; Behcet's disease; lupus erythematosus rheumatoid arthritis thyroid disease, autoimmune; Dengue Hemorrhagic Fever|; chronic obstructive pulmonary disease; Behcet's Disease; asthma; dermatitis and eczema; rhinitis; smoking; graft-versus-host disease; Colitis, Ulcerative; bladder cancer; Celiac Disease|Common Variable Immunodeficiency|IgA Deficiency; Asthma|Hypersensitivity, Immediate; Cervical Neoplasm|Uterine Cervical Neoplasms; Wegener's granulomatosis; Choriocarcinoma|Hydatidiform Mole Mice homozygous for a knock-out allele exhibit lethality at 3 to 4 weeks of age, decreased T cell numbers, abnormal T cell physiology, inflammation in mutliple organs, abnormal thymus morphology, and lymph node hypoplasia. RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006955;immune response;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0030889;negative regulation of B cell proliferation;IMP|GO:0031295;T cell costimulation;TAS|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045590;negative regulation of regulatory T cell differentiation;IDA|GO:0050777;negative regulation of immune response;IEA|GO:0050853;B cell receptor signaling pathway;IMP GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045334;clathrin-coated endocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0098636;protein complex involved in cell adhesion;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CTLA4 https://hpo.jax.org/app/browse/search?q=CTLA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123890 http://www.informatics.jax.org/searchtool/Search.do?query=CTLA4&submit=Quick%0D%11020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTLA4 rs11676461 0.182109 0 0 1 0 0 intergenic intergenic intergenic CTLA4(dist=30713),ICOS(dist=32075) CTLA4(dist=30713),ICOS(dist=32075) ENSG00000163599(dist=30713),ENSG00000163600(dist=32075) Na Na Na Na Na Na Het;G>A 278;5|9 Ref Hom;G>A 122;0|4 N N - 2 20845273 20845273 G A snp intronic HS1BP3 Hs1bp3 ENSG00000118960 HCLS1 binding protein 3 chr2:20760208-20850849 The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008] Parkinson's disease GO:0042981;regulation of apoptotic process;IMP GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HS1BP3 https://www.uniprot.org/uniprot/Q53T59 https://www.ncbi.nlm.nih.gov/omim/?term=609359 http://www.informatics.jax.org/searchtool/Search.do?query=HS1BP3&submit=Quick%0D%5021ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HS1BP3 rs2304423 0.746006 0.6875 0.6986 1 0 0 intronic intronic intronic HS1BP3 HS1BP3 ENSG00000118960 Na Na Na Na Na Na Het;G>A 1614;79|71 Het;G>A 1438;63|63 Hom;G>A 2581;0|94 N N - 2 208977135 208977135 A G snp ncRNA_exonic CRYGEP rs35960349 0.227636 0 0 1 0 0 intergenic intergenic ncRNA_exonic PLEKHM3(dist=86851),LOC100507443(dist=6718) PLEKHM3(dist=86851),LOC100507443(dist=6718) ENSG00000229150 Na Na Na Na Na Na Het;A>G 266;8|10 Het;A>G 170;5|6 Hom;A>G 317;0|10 N N - 2 208977362 208977362 C A snp upstream CRYGEP rs34126491 0.267372 0 0 1 0 0 intergenic intergenic upstream PLEKHM3(dist=87078),LOC100507443(dist=6491) PLEKHM3(dist=87078),LOC100507443(dist=6491) ENSG00000229150 Na Na Na Na Na Na Het;C>A 1137;33|50 Het;C>A 1020;46|46 Hom;C>A 2096;0|76 N N - 2 208977402 208977402 A G snp upstream CRYGEP rs55999272 0.297923 0 0 1 0 0 intergenic intergenic upstream PLEKHM3(dist=87118),LOC100507443(dist=6451) PLEKHM3(dist=87118),LOC100507443(dist=6451) ENSG00000229150 Na Na Na Na Na Na Het;A>G 1002;33|42 Het;A>G 1080;40|47 Hom;A>G 3190;0|74 N N - 2 208989037 208989037 A G snp synonymous SNV T51C Y17Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic CRYGD Crygd ENSG00000118231 crystallin gamma D chr2:208986331-208989225 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] familial cataract; smoking cessation; autosomal dominant coral-like cataract Heterozygotes for a spontaneous mutation exhibit a dense nuclear cataract and mild microphthalmia by 2-months of age, followed by posterior capsular rupture into the posterior vitreous by 3-months. In homozygotes, the microphthalmia is more pronounced. GO:0002088;lens development in camera-type eye;ISS|GO:0007601;visual perception;IEA|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0050896;response to stimulus;IEA|GO:0070306;lens fiber cell differentiation;ISS GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS GO:0005212;structural constituent of eye lens;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRYGD https://www.uniprot.org/uniprot/P07320 https://hpo.jax.org/app/browse/search?q=CRYGD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123690 http://www.informatics.jax.org/searchtool/Search.do?query=CRYGD&submit=Quick%0D%4953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYGD rs2242074 0.644768 0.5744 0.5969 1 0 0 exonic exonic exonic CRYGD CRYGD ENSG00000118231 synonymous SNV synonymous SNV unknown CRYGD:NM_006891:exon2:c.T51C:p.Y17Y, CRYGD:uc021vvu.1:exon2:c.T51C:p.Y17Y,CRYGD:uc002vcn.4:exon2:c.T51C:p.Y17Y, UNKNOWN Het;A>G 369;27|16 Het;A>G 555;10|24 Hom;A>G 1374;0|48 N N - 2 209010558 209010558 A G snp synonymous SNV T192C P64P hydrophobic,neutral hydrophobic,neutral CRYGB Crygb ENSG00000182187 crystallin gamma B chr2:209007297-209010892 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] longevity; Cataract; smoking cessation Homozygotes and heterozygotes for a spontaneous mutation exhibit cataracts characterized by nuclear and polar opacity with vacuoles and a reduction in lens weight. GO:0001654;eye development;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007601;visual perception;NAS|GO:0070307;lens fiber cell development;IEA|GO:0070309;lens fiber cell morphogenesis;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0005212;structural constituent of eye lens;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRYGB https://hpo.jax.org/app/browse/search?q=CRYGB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123670 http://www.informatics.jax.org/searchtool/Search.do?query=CRYGB&submit=Quick%0D%14741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYGB rs2854723 0.401957 0.5008 0.4817 1 0 0 exonic exonic exonic CRYGB CRYGB ENSG00000182187 synonymous SNV synonymous SNV unknown CRYGB:NM_005210:exon2:c.T192C:p.P64P, CRYGB:uc002vcp.4:exon2:c.T192C:p.P64P, UNKNOWN Het;A>G 1024;45|45 Het;A>G 1080;58|55 Hom;A>G 2749;1|102 N N - 2 209010891 209010891 G A snp UTR5 -47C>T CRYGB Crygb ENSG00000182187 crystallin gamma B chr2:209007297-209010892 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] longevity; Cataract; smoking cessation Homozygotes and heterozygotes for a spontaneous mutation exhibit cataracts characterized by nuclear and polar opacity with vacuoles and a reduction in lens weight. GO:0001654;eye development;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0007601;visual perception;NAS|GO:0070307;lens fiber cell development;IEA|GO:0070309;lens fiber cell morphogenesis;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0005212;structural constituent of eye lens;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRYGB https://hpo.jax.org/app/browse/search?q=CRYGB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123670 http://www.informatics.jax.org/searchtool/Search.do?query=CRYGB&submit=Quick%0D%14741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYGB rs2289917 0.227236 0.3177 0.3252 1 0 0 ncRNA_intronic ncRNA_intronic UTR5 LOC100507443 LOC100507443 ENSG00000182187(ENST00000260988:c.-47C>T) Na Na Na Na Na Na Het;G>A 324;16|14 Het;G>A 463;13|20 Hom;G>A 680;0|22 N N - 2 209035849 209035849 A C snp intronic C2orf80 D630023F18Rik ENSG00000188674 chromosome 2 open reading frame 80 chr2:209030067-209054797 http://www.genecards.org/index.php?path=/Search/keyword/C2orf80 https://www.ncbi.nlm.nih.gov/omim/?term=615536 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf80&submit=Quick%0D%16081ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf80 rs4292037 0.867013 0 0 1 0 0 intronic intronic intronic C2orf80 C2orf80 ENSG00000188674 Na Na Na Na Na Na Het;A>C 730;23|29 Het;A>C 816;25|33 Hom;A>C 1446;0|46 N N - 2 209036605 209036605 T C snp intronic C2orf80 D630023F18Rik ENSG00000188674 chromosome 2 open reading frame 80 chr2:209030067-209054797 http://www.genecards.org/index.php?path=/Search/keyword/C2orf80 https://www.ncbi.nlm.nih.gov/omim/?term=615536 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf80&submit=Quick%0D%16081ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf80 rs10932244 0.856829 0 0 1 0 0 intronic intronic intronic C2orf80 C2orf80 ENSG00000188674 Na Na Na Na Na Na Het;T>C 379;6|12 Het;T>C 31;6|2 Hom;T>C 135;0|4 N N - 2 209036712 209036712 T C snp nonsynonymous SNV A454G S152G polar,hydrophilic,neutral aliphatic,neutral C2orf80 D630023F18Rik ENSG00000188674 chromosome 2 open reading frame 80 chr2:209030067-209054797 http://www.genecards.org/index.php?path=/Search/keyword/C2orf80 https://www.ncbi.nlm.nih.gov/omim/?term=615536 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf80&submit=Quick%0D%16081ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf80 rs10804166 0.856829 0.8901 0.8895 0.23 3 13 exonic exonic exonic C2orf80 C2orf80 ENSG00000188674 nonsynonymous SNV nonsynonymous SNV unknown C2orf80:NM_001099334:exon7:c.A454G:p.S152G, C2orf80:uc002vcr.3:exon7:c.A454G:p.S152G, UNKNOWN Het;T>C 1325;42|59 Het;T>C 565;18|29 Hom;T>C 1696;0|66 N N - 2 209037005 209037005 T C snp intronic C2orf80 D630023F18Rik ENSG00000188674 chromosome 2 open reading frame 80 chr2:209030067-209054797 http://www.genecards.org/index.php?path=/Search/keyword/C2orf80 https://www.ncbi.nlm.nih.gov/omim/?term=615536 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf80&submit=Quick%0D%16081ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf80 rs7564942 0.856629 0 0 1 0 0 intronic intronic intronic C2orf80 C2orf80 ENSG00000188674 Na Na Na Na Na Na Het;T>C 35;2|2 Ref Hom;T>C 117;0|4 N N - 2 209130965 209130966 TG T indel upstream PIKFYVE Pikfyve ENSG00000115020 phosphoinositide kinase, FYVE-type zinc finger containing chr2:209130991-209223475 Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm. Synthesis of PIPs at the late endosome membrane GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE https://www.uniprot.org/uniprot/Q9Y2I7 https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609414 http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE rs56889195 0.90595 0 0 1 0 0 upstream upstream upstream PIKFYVE PIKFYVE ENSG00000115020,ENSG00000138413 Na Na Na Na Na Na Het;-G 987;44|43 Het;-G 1141;31|47 Hom;-G 2066;0|70 N N - 2 210843383 210843383 G A snp synonymous SNV G8856A Q2952Q polar,hydrophilic,neutral polar,hydrophilic,neutral UNC80 Unc80 ENSG00000144406 unc-80 homolog, NALCN channel complex subunit chr2:210636717-210864024 The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016] Persistent Hypotonia Encephalopathy Growth Retardation and Severe Intellectual Disability Stimuli-sensing channels GO:0034220;ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC80 https://www.uniprot.org/uniprot/Q8N2C7 https://hpo.jax.org/app/browse/search?q=UNC80&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612636 http://www.informatics.jax.org/searchtool/Search.do?query=UNC80&submit=Quick%0D%8603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC80 rs2075117 0.645767 0.6275 0.6556 1 0 0 exonic exonic exonic UNC80 UNC80 ENSG00000144406 synonymous SNV synonymous SNV unknown UNC80:NM_182587:exon58:c.G8856A:p.Q2952Q,UNC80:NM_032504:exon58:c.G8871A:p.Q2957Q, UNC80:uc010zje.1:exon9:c.G1209A:p.Q403Q,UNC80:uc010zjc.1:exon58:c.G8871A:p.Q2957Q,UNC80:uc002vdl.1:exon9:c.G1269A:p.Q423Q,UNC80:uc021vvx.1:exon58:c.G8856A:p.Q2952Q,UNC80:uc010zjd.1:exon10:c.G1209A:p.Q403Q, UNKNOWN Het;G>A 1323;39|61 Het;G>A 1247;37|59 Hom;G>A 3139;0|118 N N - 2 210846867 210846867 A G snp intronic UNC80 Unc80 ENSG00000144406 unc-80 homolog, NALCN channel complex subunit chr2:210636717-210864024 The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016] Persistent Hypotonia Encephalopathy Growth Retardation and Severe Intellectual Disability Stimuli-sensing channels GO:0034220;ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC80 https://www.uniprot.org/uniprot/Q8N2C7 https://hpo.jax.org/app/browse/search?q=UNC80&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612636 http://www.informatics.jax.org/searchtool/Search.do?query=UNC80&submit=Quick%0D%8603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC80 rs2723222 0.455871 0.4455 0.5210 1 0 0 intronic intronic intronic UNC80 UNC80 ENSG00000144406 Na Na Na Na Na Na Het;A>G 112;8|6 Het;A>G 351;11|15 Hom;A>G 404;0|16 N N - 2 210882171 210882171 A T snp intronic RPE Rpe ENSG00000197713 ribulose-5-phosphate-3-epimerase chr2:210867289-210886300 Pentose phosphate pathway (hexose monophosphate shunt) GO:0005975;carbohydrate metabolic process;IDA|GO:0006098;pentose-phosphate shunt;TAS|GO:0008152;metabolic process;IEA|GO:0009052;pentose-phosphate shunt, non-oxidative branch;IBA|GO:0019323;pentose catabolic process;IBA|GO:0044262;cellular carbohydrate metabolic process;IBA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004750;ribulose-phosphate 3-epimerase activity;EXP|GO:0016853;isomerase activity;IEA|GO:0016857;racemase and epimerase activity, acting on carbohydrates and derivatives;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RPE https://www.ncbi.nlm.nih.gov/omim/?term=180480 http://www.informatics.jax.org/searchtool/Search.do?query=RPE&submit=Quick%0D%16696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPE rs2075116 0.38139 0.3461 0.4496 1 0 0 intronic intronic intronic RPE RPE ENSG00000197713 Na Na Na Na Na Na Het;A>T 288;11|14 Het;A>T 688;13|27 Hom;A>T 955;0|35 N N - 2 211421452 211421452 A ATCT indel nonframeshift substitution 13_13delinsATCT CPS1 Cps1 ENSG00000021826 carbamoyl-phosphate synthase 1 chr2:211342406-211543831 The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] Acquired Immunodeficiency Syndrome|Disease Progression; Homocysteine; Tobacco Use Disorder; Creatinine; necrotizing enterocolitis; fibrinogen; Fibrinogen; Homocysteine levels ; Epilepsy|Hyperammonemia; vascular disease; pulmonary hypertension; Schizophrenia; homocysteine; Premature Birth; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia. Urea cycle GO:0000050;urea cycle;TAS|GO:0001889;liver development;IEA|GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0014075;response to amine;IEA|GO:0019240;citrulline biosynthetic process;NAS|GO:0019433;triglyceride catabolic process;IMP|GO:0032094;response to food;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0033762;response to glucagon;IEA|GO:0034201;response to oleic acid;IEA|GO:0042311;vasodilation;IMP|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043200;response to amino acid;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0046209;nitric oxide metabolic process;IMP|GO:0048545;response to steroid hormone;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0055081;anion homeostasis;IEA|GO:0060416;response to growth hormone;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070409;carbamoyl phosphate biosynthetic process;IMP|GO:0071320;cellular response to cAMP;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071400;cellular response to oleic acid;IEA|GO:0071548;response to dexamethasone;IEA|GO:1903718;cellular response to ammonia;IMP|GO:0000050;urea cycle;TAS|GO:0001889;liver development;IEA|GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006508;proteolysis;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0007494;midgut development;IEA|GO:0008152;metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0014075;response to amine;IEA|GO:0019240;citrulline biosynthetic process;NAS|GO:0019433;triglyceride catabolic process;IMP|GO:0032094;response to food;IEA|GO:0032496;response to lipopolysaccharide;IDA|GO:0033762;response to glucagon;IEA|GO:0034201;response to oleic acid;IEA|GO:0042311;vasodilation;IMP|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043200;response to amino acid;IEA|GO:0044344;cellular response to fibroblast growth factor stimulus;IEA|GO:0046209;nitric oxide metabolic process;IMP|GO:0048545;response to steroid hormone;IEA|GO:0050667;homocysteine metabolic process;IDA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA|GO:0055081;anion homeostasis;IEA|GO:0060416;response to growth hormone;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070409;carbamoyl phosphate biosynthetic process;IMP|GO:0071320;cellular response to cAMP;IEA|GO:0071377;cellular response to glucagon stimulus;IEA|GO:0071400;cellular response to oleic acid;IEA|GO:0071548;response to dexamethasone;IEA|GO:1903718;cellular response to ammonia;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0042645;mitochondrial nucleoid;IDA|GO:0043234;protein complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004087;carbamoyl-phosphate synthase (ammonia) activity;IMP|GO:0004088;carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity;IEA|GO:0004175;endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0016595;glutamate binding;IEA|GO:0016874;ligase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0046872;metal ion binding;IEA|GO:0072341;modified amino acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CPS1 https://www.uniprot.org/uniprot/P31327 https://hpo.jax.org/app/browse/search?q=CPS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608307 http://www.informatics.jax.org/searchtool/Search.do?query=CPS1&submit=Quick%0D%63ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPS1 rs3835047 0.477037 0.4615 0.4350 1 0 0 exonic exonic exonic CPS1 CPS1 ENSG00000021826 nonframeshift substitution nonframeshift substitution unknown CPS1:NM_001122633:exon2:c.13_13delinsATCT, CPS1:uc010fur.3:exon2:c.13_13delinsATCT, UNKNOWN Het;+TCT 1000;32|27 Het;+TCT 2371;65|60 Hom;+TCT 6400;0|143 N N - 2 212251864 212251864 T C snp synonymous SNV A3147G V1049V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ERBB4 Erbb4 ENSG00000178568 erb-b2 receptor tyrosine kinase 4 chr2:212240446-213403565 This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Eosinophils; Bone Density; Cholesterol, HDL; Brain Neoplasms|Glioma; colorectal cancer; Tobacco Use Disorder; schizophrenia; Fibrinogen; Factor VII; Body Weights and Measures; Alzheimer Disease; monocyte chemoattractant protein 1 (66-77); Body Weight; Celiac Disease|; Frontal Lobe; Diabetic Nephropathies; Cholesterol, LDL; schizophrenia | autism; Cell Transformation, Neoplastic|Melanoma|Skin Neoplasms; null; lung cancer; Arteries; Schizophrenia; Echocardiography; Neuroblastoma; Hypertrophy, Left Ventricular; Type 2 Diabetes| edema | rosiglitazone; Sodium Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0001755;neural crest cell migration;IEA|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEA|GO:0007595;lactation;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009880;embryonic pattern specification;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021551;central nervous system morphogenesis;IEA|GO:0021889;olfactory bulb interneuron differentiation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043653;mitochondrial fragmentation involved in apoptotic process;IMP|GO:0045165;cell fate commitment;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060644;mammary gland epithelial cell differentiation;IEA|GO:0060749;mammary gland alveolus development;IEA|GO:0061026;cardiac muscle tissue regeneration;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:2000010;positive regulation of protein localization to cell surface;IEA|GO:2000145;regulation of cell motility;TAS|GO:2000366;positive regulation of STAT protein import into nucleus;IMP|GO:2001223;negative regulation of neuron migration;IEA GO:0005576;extracellular region;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0044212;transcription regulatory region DNA binding;IMP|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ERBB4 https://hpo.jax.org/app/browse/search?q=ERBB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600543 http://www.informatics.jax.org/searchtool/Search.do?query=ERBB4&submit=Quick%0D%14200ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERBB4 rs3748962 0.223043 0.2527 0.2954 1 0 0 exonic exonic exonic ERBB4 ERBB4 ENSG00000178568 synonymous SNV synonymous SNV unknown ERBB4:NM_001042599:exon26:c.A3147G:p.V1049V,ERBB4:NM_005235:exon27:c.A3195G:p.V1065V, ERBB4:uc010zji.1:exon27:c.A3165G:p.V1055V,ERBB4:uc010zjj.1:exon26:c.A3117G:p.V1039V,ERBB4:uc002veh.1:exon26:c.A3147G:p.V1049V,ERBB4:uc002veg.1:exon27:c.A3195G:p.V1065V, UNKNOWN Het;T>C 1540;41|55 Het;T>C 1185;37|50 Hom;T>C 2863;0|100 N N - 2 212285103 212285103 T C snp intronic ERBB4 Erbb4 ENSG00000178568 erb-b2 receptor tyrosine kinase 4 chr2:212240446-213403565 This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Eosinophils; Bone Density; Cholesterol, HDL; Brain Neoplasms|Glioma; colorectal cancer; Tobacco Use Disorder; schizophrenia; Fibrinogen; Factor VII; Body Weights and Measures; Alzheimer Disease; monocyte chemoattractant protein 1 (66-77); Body Weight; Celiac Disease|; Frontal Lobe; Diabetic Nephropathies; Cholesterol, LDL; schizophrenia | autism; Cell Transformation, Neoplastic|Melanoma|Skin Neoplasms; null; lung cancer; Arteries; Schizophrenia; Echocardiography; Neuroblastoma; Hypertrophy, Left Ventricular; Type 2 Diabetes| edema | rosiglitazone; Sodium Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0001755;neural crest cell migration;IEA|GO:0001934;positive regulation of protein phosphorylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEA|GO:0007595;lactation;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009880;embryonic pattern specification;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0021551;central nervous system morphogenesis;IEA|GO:0021889;olfactory bulb interneuron differentiation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043653;mitochondrial fragmentation involved in apoptotic process;IMP|GO:0045165;cell fate commitment;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060644;mammary gland epithelial cell differentiation;IEA|GO:0060749;mammary gland alveolus development;IEA|GO:0061026;cardiac muscle tissue regeneration;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:2000010;positive regulation of protein localization to cell surface;IEA|GO:2000145;regulation of cell motility;TAS|GO:2000366;positive regulation of STAT protein import into nucleus;IMP|GO:2001223;negative regulation of neuron migration;IEA GO:0005576;extracellular region;TAS|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0044212;transcription regulatory region DNA binding;IMP|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ERBB4 https://hpo.jax.org/app/browse/search?q=ERBB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600543 http://www.informatics.jax.org/searchtool/Search.do?query=ERBB4&submit=Quick%0D%14200ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERBB4 rs2289086 0.474441 0 0 1 0 0 intronic intronic intronic ERBB4 ERBB4 ENSG00000178568 Na Na Na Na Na Na Het;T>C 361;7|12 Het;T>C 256;11|10 Hom;T>C 548;0|20 N N - 2 21313778 21313779 TC T indel intergenic APOB Apob ENSG00000084674 apolipoprotein B chr2:21224301-21266945 This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] coronary heart disease and serum very low density lipopro; Type 2 diabetes; Coronary Artery Disease|Coronary Stenosis; Lipoproteins, LDL; familial hypobetalipoproteinemia; nephropathy in other diseases; Recurrence|Venous Thromboembolism; chronic obstructive pulmonary disease; Coronary Artery Disease; Alzheimer's disease; triglycerides; atherosclerosis, coronary; osteonecrosis; Cleft Lip|Cleft Palate; Calcinosis|Coronary Artery Disease; familial defective apolipoprotein B100.; Fredrickson hyperlipoproteinemia; Hyperlipoproteinemia Type II; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Monocytes; osteonecrosis, steroid induced; Diseases in Twins|Obstetric Labor, Premature; Cardiovascular Diseases|; diabetes, type 2; Hypertension|Precursor Cell Lymphoblastic Leukemia-Lymphoma; hypobetalipoproteinemia; apolipoprotein B gene polymorphism; Myocardial Infarction; triglycerides; essential tremor; cardiovascular disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; Atherosclerosis|Hypercholesterolemia; serum triglyceride levels; PAH metabolites, urinary; Alzheimer's disease ; Coronary Disease|Coronary heart disease; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2; cholesterol, HDL; cholesterol, LDL; lipids; serum cholesterol and LDL-cholesterol levels; blood lipid parameters; bladder cancer; holoprosencephaly; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Coronary Artery Disease|Hypertension; coronary artery disease; Femur Head Necrosis; Brain Ischemia|Genetic Predisposition to Disease; Cholesterol, LDL; Diabetes Mellitus, Type 2; carotid atherosclerosis; peripheral arterial disease; Iron; Anemia, Sickle Cell; thrombophilia and vascular disease; Cardiovascular Diseases|Ischemia; aspirin resistance; atherosclerosis, coronary cholesterol; healthy oldest-old; lipids; left ventricular mass; aortic gradient; aortic valve stenosis; cholesterol; apoA-IV; apoE; triacylglycerols; cholesterol cholesterol, HDL lipoprotein triglycerides; Infertility, Male; Coronary Disease|Coronary heart disease|Myocardial Infarction; lipoprotein level; Thrombosis; Amyotrophic Lateral Sclerosis|; Cerebral Hemorrhage|; myocardial infarction | metabolic syndrome; dementia; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Insulin Resistance; Hypertension|Obesity; Carotid Artery Diseases|; inflammatory bowel disease; Dyslipidemias|Hypertriglyceridemia; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Cholesterol, total; Depression; coronary heart disease; blood pressure, arterial hypertension; Cerebral Hemorrhage; Spina Bifida Cystica; fluvastatin induced cholesterol changes; lung cancer; cardiovascular; patent ductus arteriosus; Biliary calculi|Gallstones|Stomach Neoplasms; plasma apoB and low density lipoprotein (LDL) cholesterol levels; null; ischemia; Lipoproteins, HDL; other metabolic traits; restenosis; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; cholesterol, LDL; lipid profiles; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; lipid metabolism; obesity; elevated apo B levels; recurrent pregnancy loss; Hypobetalipoproteinemias; Obesity; Tobacco Use Disorder; Metabolic Syndrome X; serum cholesterol; plasma glucose levels; Acute Coronary Syndrome; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; altered lipid levels; lipids; familial defective apolipoprotein B; Hyperlipidemias|Obesity; blood pressure, arterial; fetal loss, late; cholesterol gallstone disease; Femur Head Necrosis|; metabolic syndrome; familial defective apolipoprotein B-100 in a Chinese man; atherosclerosis; cholesterol status; Plasma Lipid Levels; Hypertension/complications*; HDL cholesterol; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diseases in Twins; lipid levels; Hyperlipidemia, Familial Combined; Hyperlipidemias; Asthenozoospermia|Azoospermia|Oligospermia; Coronary Disease; Cardiovascular Diseases|Obesity|Virilism; Atherosclerosis|Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Hypertriglyceridemia; Gallbladder Diseases; Coronary Disease|Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction; Hepatitis C, Chronic; intima-media thickness; cardiovascular risk; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Carotid Artery Diseases; heart disease, ischemic; Risperidone; heart disease; normal variation; quantitative variation in lipid and lipoprotein traits; hypertension; Dyslipidemias|Nephrotic Syndrome; Blood Pressure; Inflammatory Bowel Diseases; diabetic neuropathy; hyperlipidemia; atherosclerosis, coronary; longevity; Cerebral Infarction|; Hypertriglyceridemia; hypercholesterolemia; lipid concentrations; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; cholesterol; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; intermediate density lipoprotein concentrations; Hypercholesterolemia|LDLC levels; Abortion, Spontaneous|Thrombosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Stroke; longevity; gallbladder cancer; LDL cholesterol; Hypercholesterolemia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; Triglycerides; Chronic renal failure|Kidney Failure, Chronic; pharmacogenetic studies; Biliary Tract Neoplasms|Gallstones; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Apoplexy|Hypoxia-Ischemia, Brain|Stroke; aging; Hyperlipidemias|Hypertension; plasma HDL cholesterol (HDL-C) levels; Myocardial Infarction|Myocardial Ischemia; Altitude Sickness|Chronic Disease; Cholesterol, HDL; heart disease, ischemic hypercholesterolemia; Lymphoma, Non-Hodgkin; Hypertension; Fetal Growth Retardation|Intrauterine growth retardation; Schizophrenia; Body Weight; Brain Ischemia|Stroke; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Cholecystolithiasis|Postoperative Complications|Stomach Neoplasms; Cholesterol; lipoprotein; hypercholesterolemia coronary artery disease; cholelithiasis; myocardial infarction; Cardiovascular Diseases; Myocardial ischemia; Erectile Dysfunction Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable. VLDL clearance GO:0001523;retinoid metabolic process;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006642;triglyceride mobilization;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IMP|GO:0009566;fertilization;IEA|GO:0009615;response to virus;IEP|GO:0009743;response to carbohydrate;IEA|GO:0009791;post-embryonic development;IEA|GO:0010033;response to organic substance;IEA|GO:0010269;response to selenium ion;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010744;positive regulation of macrophage derived foam cell differentiation;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010886;positive regulation of cholesterol storage;IDA|GO:0016042;lipid catabolic process;IEA|GO:0019433;triglyceride catabolic process;IEA|GO:0030301;cholesterol transport;IMP|GO:0030317;flagellated sperm motility;IEA|GO:0032355;response to estradiol;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033344;cholesterol efflux;IEA|GO:0034371;chylomicron remodeling;TAS|GO:0034374;low-density lipoprotein particle remodeling;TAS|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0034447;very-low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0042953;lipoprotein transport;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045540;regulation of cholesterol biosynthetic process;IEA|GO:0048844;artery morphogenesis;IEA|GO:0050900;leukocyte migration;TAS|GO:0061024;membrane organization;TAS|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071379;cellular response to prostaglandin stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005737;cytoplasm;IDA|GO:0005769;early endosome;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005790;smooth endoplasmic reticulum;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0012506;vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031904;endosome lumen;TAS|GO:0031983;vesicle lumen;IEA|GO:0034359;mature chylomicron;IDA|GO:0034360;chylomicron remnant;TAS|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034362;low-density lipoprotein particle;IDA|GO:0034363;intermediate-density lipoprotein particle;IDA|GO:0042627;chylomicron;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IDA|GO:0071682;endocytic vesicle lumen;TAS GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008201;heparin binding;IDA|GO:0008289;lipid binding;IEA|GO:0017127;cholesterol transporter activity;IMP|GO:0035473;lipase binding;IPI|GO:0050750;low-density lipoprotein particle receptor binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/APOB https://www.uniprot.org/uniprot/P04114 https://hpo.jax.org/app/browse/search?q=APOB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107730 http://www.informatics.jax.org/searchtool/Search.do?query=APOB&submit=Quick%0D%1866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOB rs145700744 0.141374 0 0 1 0 0 intergenic intergenic intergenic APOB(dist=46833),LOC645949(dist=596527) APOB(dist=46833),LOC645949(dist=596527) ENSG00000084674(dist=46833),ENSG00000218819(dist=33010) Na Na Na Na Na Na Het;-C 66;3|3 Ref Hom;-C 125;0|4 N N - 2 213681716 213681716 T C snp ncRNA_exonic LINC01878 rs13015944 0.467252 0 0 1 0 0 intergenic intergenic ncRNA_exonic ERBB4(dist=278364),MIR4776-2(dist=109265) ERBB4(dist=278364),MIR4776-1(dist=109265) ENSG00000234308 Na Na Na Na Na Na Het;T>C 1396;40|60 Het;T>C 675;36|34 Hom;T>C 2486;0|93 N N - 2 214727221 214727221 A C snp nonsynonymous SNV A636C Q212H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) SPAG16 Spag16 ENSG00000144451 sperm associated antigen 16 chr2:214149113-215275225 Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008] Survival; Exercise Test; Stroke; Tobacco Use Disorder; Bone Density; Albuminuria; Myocardial Infarction; Chronic Obstructive Pulmonary Disease; Hemoglobins; Electrocardiography Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras. GO:0007288;sperm axoneme assembly;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IMP|GO:0051012;microtubule sliding;IEA|GO:0060271;cilium assembly;IEA|GO:0060294;cilium movement involved in cell motility;IEA|GO:0097231;cell motility in response to calcium ion;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0030030;cell projection organization;IEA|GO:0035082;axoneme assembly;IMP|GO:0051012;microtubule sliding;IEA|GO:0060271;cilium assembly;IEA|GO:0060294;cilium movement involved in cell motility;IEA|GO:0097231;cell motility in response to calcium ion;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:1990716;axonemal central apparatus;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPAG16 https://www.uniprot.org/uniprot/Q8N0X2 https://www.ncbi.nlm.nih.gov/omim/?term=612173 http://www.informatics.jax.org/searchtool/Search.do?query=SPAG16&submit=Quick%0D%172ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAG16 rs2042791 0.384185 0.3274 0.3904 0.08 1 13 exonic exonic exonic SPAG16 SPAG16 ENSG00000144451 nonsynonymous SNV nonsynonymous SNV unknown SPAG16:NM_024532:exon11:c.A1083C:p.Q361H, SPAG16:uc010fuz.3:exon9:c.A636C:p.Q212H,SPAG16:uc002veq.4:exon11:c.A1083C:p.Q361H,SPAG16:uc010zjk.3:exon10:c.A801C:p.Q267H,SPAG16:uc002ver.4:exon13:c.A921C:p.Q307H, UNKNOWN Het;A>C 1233;48|49 Het;A>C 695;47|34 Hom;A>C 2961;0|110 N N - 2 215590505 215590510 TAAGAC T indel UTR3 *2895_*2890delinsA BARD1 Bard1 ENSG00000138376 BRCA1 associated RING domain 1 chr2:215590370-215674428 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] lung cancer; Coronary Artery Disease; neuroblastoma (high-risk); chronic obstructive pulmonary disease; bladder cancer; breast cancer ; esophageal adenocarcinoma; Neuroblastoma; breast cancer; lung cancer ; null; uterine cancers; cervical cancer; ovarian cancer ; Tobacco Use Disorder; breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer; epithelial ovarian cancer ; Colorectal Neoplasms Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage. The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1. G2/M DNA damage checkpoint GO:0000729;DNA double-strand break processing;TAS|GO:0000731;DNA synthesis involved in DNA repair;TAS|GO:0000732;strand displacement;TAS|GO:0001894;tissue homeostasis;TAS|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;NAS|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031441;negative regulation of mRNA 3'-end processing;NAS|GO:0042325;regulation of phosphorylation;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045732;positive regulation of protein catabolic process;NAS|GO:0046826;negative regulation of protein export from nucleus;IDA|GO:0085020;protein K6-linked ubiquitination;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000151;ubiquitin ligase complex;NAS|GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IDA|GO:0031436;BRCA1-BARD1 complex;IDA|GO:0070531;BRCA1-A complex;IDA GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019900;kinase binding;NAS|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/BARD1 https://www.uniprot.org/uniprot/Q99728 https://hpo.jax.org/app/browse/search?q=BARD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601593 http://www.informatics.jax.org/searchtool/Search.do?query=BARD1&submit=Quick%0D%7714ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BARD1 rs71041956 0.178914 0 0 1 0 0 UTR3 intergenic UTR3 BARD1(NM_000465:c.*2895_*2890delinsA,NM_001282543:c.*2895_*2890delinsA,NM_001282549:c.*2895_*2890delinsA,NM_001282548:c.*2895_*2890delinsA,NM_001282545:c.*2895_*2890delinsA) VWC2L(dist=149852),BARD1(dist=2765) ENSG00000138376(ENST00000260947:c.*2895_*2890delinsA) Na Na Na Na Na Na Het;-AAGAC 848;27|23 Het;-AAGAC 1181;47|34 Hom;-AAGAC 3682;0|84 N N - 2 215796568 215796568 T C snp UTR3 *790A>G ABCA12 Abca12 ENSG00000144452 ATP binding cassette subfamily A member 12 chr2:215796266-216003151 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Neuroblastoma; Fibrinogen; Alzheimer's Disease; Tobacco Use Disorder Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IDA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0019725;cellular homeostasis;NAS|GO:0030216;keratinocyte differentiation;IEA|GO:0031424;keratinization;IEA|GO:0032940;secretion by cell;IMP|GO:0033700;phospholipid efflux;IMP|GO:0035627;ceramide transport;IEA|GO:0043129;surfactant homeostasis;IEA|GO:0045055;regulated exocytosis;IMP|GO:0048286;lung alveolus development;IEA|GO:0055085;transmembrane transport;TAS|GO:0055088;lipid homeostasis;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0072659;protein localization to plasma membrane;IDA|GO:2000010;positive regulation of protein localization to cell surface;IEA GO:0005737;cytoplasm;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097209;epidermal lamellar body;IDA GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0034040;lipid-transporting ATPase activity;IC|GO:0034191;apolipoprotein A-I receptor binding;IPI|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA12 https://www.uniprot.org/uniprot/Q86UK0 https://hpo.jax.org/app/browse/search?q=ABCA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607800 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA12&submit=Quick%0D%8608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA12 rs12694349 0.59385 0 0 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic LOC101928103 ABCA12(uc002vev.3:c.*790A>G,uc002vew.3:c.*790A>G,uc010zjn.2:c.*790A>G) ENSG00000229267 Na Na Na Na Na Na Het;T>C 1618;58|62 Het;T>C 1102;62|46 Hom;T>C 3972;0|136 N N - 2 215797332 215797332 C T snp UTR3 *26G>A ABCA12 Abca12 ENSG00000144452 ATP binding cassette subfamily A member 12 chr2:215796266-216003151 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Neuroblastoma; Fibrinogen; Alzheimer's Disease; Tobacco Use Disorder Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. ABC transporters in lipid homeostasis GO:0006810;transport;IEA|GO:0006869;lipid transport;IDA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0019725;cellular homeostasis;NAS|GO:0030216;keratinocyte differentiation;IEA|GO:0031424;keratinization;IEA|GO:0032940;secretion by cell;IMP|GO:0033700;phospholipid efflux;IMP|GO:0035627;ceramide transport;IEA|GO:0043129;surfactant homeostasis;IEA|GO:0045055;regulated exocytosis;IMP|GO:0048286;lung alveolus development;IEA|GO:0055085;transmembrane transport;TAS|GO:0055088;lipid homeostasis;IEA|GO:0061436;establishment of skin barrier;IEA|GO:0072659;protein localization to plasma membrane;IDA|GO:2000010;positive regulation of protein localization to cell surface;IEA GO:0005737;cytoplasm;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097209;epidermal lamellar body;IDA GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0034040;lipid-transporting ATPase activity;IC|GO:0034191;apolipoprotein A-I receptor binding;IPI|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA12 https://www.uniprot.org/uniprot/Q86UK0 https://hpo.jax.org/app/browse/search?q=ABCA12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607800 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA12&submit=Quick%0D%8608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA12 rs17426207 0.398163 0.3874 0.4314 1 0 0 ncRNA_intronic UTR3 ncRNA_intronic LOC101928103 ABCA12(uc002vev.3:c.*26G>A,uc002vew.3:c.*26G>A,uc010zjn.2:c.*26G>A) ENSG00000229267 Na Na Na Na Na Na Het;C>T 1158;58|50 Het;C>T 1193;75|55 Hom;C>T 2990;0|108 N N - 2 215812297 215812297 G A snp ncRNA_intronic AC016708.1 rs2274412 0.523363 0.5235 0.4697 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928103 ABCA12 ENSG00000229267 Na Na Na Na Na Na Het;G>A 525;25|24 Het;G>A 488;43|23 Hom;G>A 1970;0|70 N N - 2 215812660 215812660 C T snp ncRNA_exonic LOC101928103 rs17879522 0.522963 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101928103 ABCA12 ENSG00000229267 Na Na Na Na Na Na Het;C>T 277;24|16 Het;C>T 480;36|27 Hom;C>T 1893;0|74 N N - 2 216584458 216584458 C T snp ncRNA_intronic LINC00607 rs1004072 0.436502 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00607 LINC00607 ENSG00000235770 Na Na Na Na Na Na Het;C>T 1461;52|59 Het;C>T 1318;70|60 Hom;C>T 3077;3|107 N N - 2 216585023 216585023 T C snp ncRNA_intronic LINC00607 rs1011145 0.648163 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00607 LINC00607 ENSG00000235770 Na Na Na Na Na Na Het;T>C 1943;86|79 Het;T>C 1546;93|67 Hom;T>C 4220;0|150 N N - 2 216585037 216585037 T C snp ncRNA_intronic LINC00607 rs1011146 0.64996 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00607 LINC00607 ENSG00000235770 Na Na Na Na Na Na Het;T>C 2249;95|91 Het;T>C 1575;97|73 Hom;T>C 4374;0|158 N N - 2 216878008 216878008 C G snp nonsynonymous SNV G43C G15R aliphatic,neutral polar,hydrophilic,charged(+) MREG Mreg ENSG00000118242 melanoregulin chr2:216809213-216898819 Albuminuria; Alcoholism; Chronic Obstructive Pulmonary Disease A spontaneous suppressor mutation restores normal melanocyte morphology and therefore coat color in mutations producing coat color dilution. GO:0030318;melanocyte differentiation;IEA|GO:0032402;melanosome transport;IEA|GO:0043473;pigmentation;IEA|GO:0048066;developmental pigmentation;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0042470;melanosome;IEA|GO:0043234;protein complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/MREG https://www.uniprot.org/uniprot/Q8N565 https://www.ncbi.nlm.nih.gov/omim/?term=609207 http://www.informatics.jax.org/searchtool/Search.do?query=MREG&submit=Quick%0D%4954ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MREG rs1864253 0.677117 0.6766 0.6400 0.15 2 13 exonic exonic exonic MREG MREG ENSG00000118242 nonsynonymous SNV nonsynonymous SNV unknown MREG:NM_018000:exon1:c.G43C:p.G15R, MREG:uc002vfo.3:exon1:c.G43C:p.G15R, UNKNOWN Het;C>G 836;59|41 Het;C>G 1270;83|62 Hom;C>G 3726;2|139 N N - 2 216903894 216903894 A C snp UTR3 *104T>G PECR Pecr ENSG00000115425 peroxisomal trans-2-enoyl-CoA reductase chr2:216861052-216947678 Alcohol dependence; Chronic Obstructive Pulmonary Disease Alpha-oxidation of phytanate GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PECR https://www.uniprot.org/uniprot/Q9BY49 https://www.ncbi.nlm.nih.gov/omim/?term=605843 http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR rs10197542 0.18151 0 0 1 0 0 UTR3 UTR3 UTR3 PECR(NM_018441:c.*104T>G) PECR(uc002vft.3:c.*104T>G) ENSG00000115425(ENST00000265322:c.*104T>G) Na Na Na Na Na Na Het;A>C 42;3|2 Het;A>C 52;1|3 Hom;A>C 136;0|4 N N - 2 216904019 216904019 A T snp nonsynonymous SNV T891A F297L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PECR Pecr ENSG00000115425 peroxisomal trans-2-enoyl-CoA reductase chr2:216861052-216947678 Alcohol dependence; Chronic Obstructive Pulmonary Disease Alpha-oxidation of phytanate GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PECR https://www.uniprot.org/uniprot/Q9BY49 https://www.ncbi.nlm.nih.gov/omim/?term=605843 http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR rs9288513 0.18131 0.1426 0.1317 0.15 2 13 exonic exonic exonic PECR PECR ENSG00000115425 nonsynonymous SNV nonsynonymous SNV unknown PECR:NM_018441:exon8:c.T891A:p.F297L, PECR:uc002vft.3:exon8:c.T891A:p.F297L, UNKNOWN Het;A>T 481;17|22 Het;A>T 433;27|22 Hom;A>T 1188;0|45 N N - 2 216908910 216908910 T C snp intronic PECR Pecr ENSG00000115425 peroxisomal trans-2-enoyl-CoA reductase chr2:216861052-216947678 Alcohol dependence; Chronic Obstructive Pulmonary Disease Alpha-oxidation of phytanate GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PECR https://www.uniprot.org/uniprot/Q9BY49 https://www.ncbi.nlm.nih.gov/omim/?term=605843 http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR rs1991533 0.720847 0 0 1 0 0 intronic intronic intronic PECR PECR ENSG00000115425 Na Na Na Na Na Na Het;T>C 250;11|8 Het;T>C 112;6|4 Hom;T>C 344;0|9 N N - 2 216908923 216908923 C G snp intronic PECR Pecr ENSG00000115425 peroxisomal trans-2-enoyl-CoA reductase chr2:216861052-216947678 Alcohol dependence; Chronic Obstructive Pulmonary Disease Alpha-oxidation of phytanate GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PECR https://www.uniprot.org/uniprot/Q9BY49 https://www.ncbi.nlm.nih.gov/omim/?term=605843 http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR rs2163015 0.0934505 0 0 1 0 0 intronic intronic intronic PECR PECR ENSG00000115425 Na Na Na Na Na Na Het;C>G 175;7|6 Het;C>G 72;4|3 Hom;C>G 256;0|7 N N - 2 216923679 216923679 C T snp nonsynonymous SNV G445A E149K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) PECR Pecr ENSG00000115425 peroxisomal trans-2-enoyl-CoA reductase chr2:216861052-216947678 Alcohol dependence; Chronic Obstructive Pulmonary Disease Alpha-oxidation of phytanate GO:0001561;fatty acid alpha-oxidation;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0033306;phytol metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;TAS GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0019166;trans-2-enoyl-CoA reductase (NADPH) activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/PECR https://www.uniprot.org/uniprot/Q9BY49 https://www.ncbi.nlm.nih.gov/omim/?term=605843 http://www.informatics.jax.org/searchtool/Search.do?query=PECR&submit=Quick%0D%4603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PECR rs1429148 0.17512 0.1114 0.1103 0.08 1 13 exonic exonic exonic PECR PECR ENSG00000115425 nonsynonymous SNV nonsynonymous SNV unknown PECR:NM_018441:exon4:c.G445A:p.E149K, PECR:uc002vft.3:exon4:c.G445A:p.E149K, UNKNOWN Het;C>T 392;42|23 Het;C>T 810;17|34 Hom;C>T 1563;0|63 N N - 2 217280261 217280262 GT G indel intronic SMARCAL1 Smarcal1 ENSG00000138375 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 chr2:217277137-217347776 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a null allele display reduced B cell counts and increased susceptibility to heat induced mortality. Treatment of homozygous null mice with alpha-amanitin results in phenotypes similar to Schimke Type Immunoosseous Dysplasia. GO:0000733;DNA strand renaturation;IEA|GO:0006259;DNA metabolic process;IMP|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0031297;replication fork processing;TAS|GO:0090656;t-circle formation;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0036310;annealing helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAL1 https://www.uniprot.org/uniprot/Q9NZC9 https://hpo.jax.org/app/browse/search?q=SMARCAL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606622 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAL1&submit=Quick%0D%7713ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAL1 rs33949990 0 0 0.3645 1 0 0 intronic intronic intronic SMARCAL1 SMARCAL1 ENSG00000138375 Na Na Na Na Na Na Het;-T 614;8|35 Het;-T 560;11|35 Hom;-T 882;6|50 N N - 2 217342000 217342000 T C snp intronic SMARCAL1 Smarcal1 ENSG00000138375 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 chr2:217277137-217347776 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a null allele display reduced B cell counts and increased susceptibility to heat induced mortality. Treatment of homozygous null mice with alpha-amanitin results in phenotypes similar to Schimke Type Immunoosseous Dysplasia. GO:0000733;DNA strand renaturation;IEA|GO:0006259;DNA metabolic process;IMP|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0031297;replication fork processing;TAS|GO:0090656;t-circle formation;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0036310;annealing helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAL1 https://www.uniprot.org/uniprot/Q9NZC9 https://hpo.jax.org/app/browse/search?q=SMARCAL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606622 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAL1&submit=Quick%0D%7713ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAL1 rs284523 0.402756 0 0 1 0 0 intronic intronic intronic SMARCAL1 SMARCAL1 ENSG00000138375 Na Na Na Na Na Na Het;T>C 1338;52|52 Het;T>C 879;41|40 Hom;T>C 2517;0|83 N N - 2 217342063 217342063 A G snp intronic SMARCAL1 Smarcal1 ENSG00000138375 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 chr2:217277137-217347776 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a null allele display reduced B cell counts and increased susceptibility to heat induced mortality. Treatment of homozygous null mice with alpha-amanitin results in phenotypes similar to Schimke Type Immunoosseous Dysplasia. GO:0000733;DNA strand renaturation;IEA|GO:0006259;DNA metabolic process;IMP|GO:0006357;regulation of transcription from RNA polymerase II promoter;IMP|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0031297;replication fork processing;TAS|GO:0090656;t-circle formation;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0035861;site of double-strand break;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IMP|GO:0016787;hydrolase activity;IEA|GO:0036310;annealing helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAL1 https://www.uniprot.org/uniprot/Q9NZC9 https://hpo.jax.org/app/browse/search?q=SMARCAL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606622 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAL1&submit=Quick%0D%7713ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAL1 rs205980 0.402756 0 0 1 0 0 intronic intronic intronic SMARCAL1 SMARCAL1 ENSG00000138375 Na Na Na Na Na Na Het;A>G 312;20|11 Het;A>G 328;11|13 Hom;A>G 437;0|14 N N - 2 217454670 217454670 T TA indel downstream LINC01280 rs397767570 0.235623 0 0 1 0 0 downstream intergenic downstream LINC01280 RPL37A(dist=88482),IGFBP2(dist=43457) ENSG00000224391 Na Na Na Na Na Na Het;+A 369;10|13 Het;+A 440;19|17 Hom;+A 578;0|18 N N - 2 217463707 217463707 A G snp ncRNA_exonic LINC01280 rs10804249 0.265575 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01280 RPL37A(dist=97519),IGFBP2(dist=34420) ENSG00000224391 Na Na Na Na Na Na Het;A>G 2210;74|97 Het;A>G 1765;95|89 Hom;A>G 4835;0|182 N N - 2 217475199 217475199 G A snp ncRNA_exonic PSMB3P2 rs16856415 0.205871 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01280(dist=3538),IGFBP2(dist=22928) RPL37A(dist=109011),IGFBP2(dist=22928) ENSG00000235444 Na Na Na Na Na Na Het;G>A 74;4|4 Het;G>A 154;5|8 Hom;G>A 296;0|11 N N - 2 217475433 217475434 GT G indel ncRNA_exonic PSMB3P2 rs34008178 0.194888 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01280(dist=3772),IGFBP2(dist=22693) RPL37A(dist=109245),IGFBP2(dist=22693) ENSG00000235444 Na Na Na Na Na Na Het;-T 274;5|10 Het;-T 123;19|7 Hom;-T 460;0|14 N N - 2 218290042 218290042 C T snp ncRNA_exonic DIRC3 ENSG00000231672 disrupted in renal carcinoma 3 chr2:218148742-218621316 Thyroid Neoplasms; Body Height; Calcium; Diabetes Mellitus; Glucose http://www.genecards.org/index.php?path=/Search/keyword/DIRC3 https://www.ncbi.nlm.nih.gov/omim/?term=608262 http://www.informatics.jax.org/searchtool/Search.do?query=DIRC3&submit=Quick%0D%19065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIRC3 rs10804259 0.319289 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic DIRC3 DIRC3 NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;C>T 563;12|15 Het;C>T 1004;20|26 Hom;C>T 2019;1|47 N N - 2 218290048 218290048 C T snp ncRNA_exonic DIRC3 ENSG00000231672 disrupted in renal carcinoma 3 chr2:218148742-218621316 Thyroid Neoplasms; Body Height; Calcium; Diabetes Mellitus; Glucose http://www.genecards.org/index.php?path=/Search/keyword/DIRC3 https://www.ncbi.nlm.nih.gov/omim/?term=608262 http://www.informatics.jax.org/searchtool/Search.do?query=DIRC3&submit=Quick%0D%19065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIRC3 rs10804260 0.442891 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic DIRC3 DIRC3 NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;C>T 563;13|15 Het;C>T 1025;20|27 Hom;C>T 2068;1|50 N N - 2 218290358 218290358 T C snp ncRNA_intronic DIRC3 ENSG00000231672 disrupted in renal carcinoma 3 chr2:218148742-218621316 Thyroid Neoplasms; Body Height; Calcium; Diabetes Mellitus; Glucose http://www.genecards.org/index.php?path=/Search/keyword/DIRC3 https://www.ncbi.nlm.nih.gov/omim/?term=608262 http://www.informatics.jax.org/searchtool/Search.do?query=DIRC3&submit=Quick%0D%19065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIRC3 rs62175475 0.443291 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic DIRC3 DIRC3 NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;T>C 88;1|5 Het;T>C 45;2|2 Hom;T>C 143;0|4 N N - 2 218851453 218851461 TACACACAC T indel ncRNA_intronic AC010136.1 rs397987839 0.545727 0 0 1 0 0 intergenic intronic ncRNA_intronic TNS1(dist=42657),NONE(dist=NONE) TNS1 ENSG00000223923 Na Na Na Na Na Na Het;-ACACACAC 351;10|14 Het;-ACACACAC 409;10|12 Hom;-ACACACAC 501;0|13 N N - 2 218899633 218899633 G C snp upstream RUFY4 Rufy4 ENSG00000188282 RUN and FYVE domain containing 4 chr2:218899683-218955304 GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RUFY4 http://www.informatics.jax.org/searchtool/Search.do?query=RUFY4&submit=Quick%0D%16001ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUFY4 rs730233 0.633986 0 0 1 0 0 intergenic upstream upstream TNS1(dist=90837),NONE(dist=NONE) RUFY4 ENSG00000188282 Na Na Na Na Na Na Het;G>C 1496;80|63 Het;G>C 1977;81|77 Hom;G>C 4353;3|150 N N - 2 218924569 218924569 A G snp ncRNA_exonic CXCR2P1 rs1593782 0.522364 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic CXCR2P1 CXCR2P1(uc002vgx.3:c.*732T>C) ENSG00000229754 Na Na Na Na Na Na Het;A>G 732;22|26 Het;A>G 489;19|20 Hom;A>G 1210;0|37 N N - 2 218925149 218925149 G A snp ncRNA_exonic CXCR2P1 rs6758271 0.683706 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic CXCR2P1 CXCR2P1(uc002vgx.3:c.*152C>T) ENSG00000229754 Na Na Na Na Na Na Het;G>A 2911;123|131 Het;G>A 1526;94|74 Hom;G>A 5036;1|181 N N - 2 218933960 218933960 T C snp UTR5 -1369T>C RUFY4 Rufy4 ENSG00000188282 RUN and FYVE domain containing 4 chr2:218899683-218955304 GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RUFY4 http://www.informatics.jax.org/searchtool/Search.do?query=RUFY4&submit=Quick%0D%16001ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUFY4 rs13431952 0.679313 0 0 1 0 0 UTR5 UTR5 UTR5 RUFY4(NM_198483:c.-1369T>C) RUFY4(uc002vgw.3:c.-4139T>C,uc010fvl.2:c.-1369T>C) ENSG00000188282(ENST00000457754:c.-1369T>C,ENST00000441828:c.-1369T>C,ENST00000344321:c.-1369T>C) Na Na Na Na Na Na Het;T>C 2687;129|112 Het;T>C 2774;74|112 Hom;T>C 6950;0|237 N N - 2 218940259 218940259 C T snp synonymous SNV C1044T P348P hydrophobic,neutral hydrophobic,neutral RUFY4 Rufy4 ENSG00000188282 RUN and FYVE domain containing 4 chr2:218899683-218955304 GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RUFY4 http://www.informatics.jax.org/searchtool/Search.do?query=RUFY4&submit=Quick%0D%16001ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUFY4 rs7423696 0.231829 0.2181 0.3124 1 0 0 exonic exonic exonic RUFY4 RUFY4 ENSG00000188282 synonymous SNV synonymous SNV unknown RUFY4:NM_198483:exon9:c.C1044T:p.P348P, RUFY4:uc002vgw.3:exon10:c.C525T:p.P175P,RUFY4:uc010fvl.2:exon9:c.C1044T:p.P348P, UNKNOWN Het;C>T 2188;91|92 Het;C>T 2275;65|99 Hom;C>T 3657;0|138 N N - 2 219903258 219903258 T G snp nonsynonymous SNV A1C M1L hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC108 rs6736922 0.589457 0.6962 0.6993 0.08 1 13 exonic exonic exonic CCDC108 CCDC108 ENSG00000181378 nonsynonymous SNV nonsynonymous SNV unknown CCDC108:NM_001278296:exon3:c.A1C:p.M1L,CCDC108:NM_001278295:exon4:c.A163C:p.M55L,CCDC108:NM_194302:exon4:c.A196C:p.M66L,CCDC108:NM_152389:exon3:c.A1C:p.M1L, CCDC108:uc010zkq.2:exon3:c.A1C:p.M1L,CCDC108:uc002vjn.4:exon3:c.A1C:p.M1L,CCDC108:uc002vjl.2:exon4:c.A196C:p.M66L,CCDC108:uc010zkp.2:exon4:c.A163C:p.M55L, UNKNOWN Het;T>G 997;45|44 Het;T>G 1308;42|57 Hom;T>G 1813;0|66 N N - 2 219903723 219903723 C T snp synonymous SNV G48A V16V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC108 rs4674354 0.585463 0.6923 0.6978 1 0 0 exonic exonic exonic CCDC108 CCDC108 ENSG00000181378 synonymous SNV synonymous SNV unknown CCDC108:NM_194302:exon3:c.G48A:p.V16V, CCDC108:uc002vjl.2:exon3:c.G48A:p.V16V, UNKNOWN Het;C>T 939;62|47 Het;C>T 1192;34|49 Hom;C>T 2104;4|84 N N - 2 219903787 219903787 T C snp UTR5 -529A>G CFAP65 Ccdc108 rs4672910 0.415735 0.5274 0.5781 1 0 0 intronic intronic UTR5 CCDC108 CCDC108 ENSG00000181378(ENST00000324264:c.-529A>G) Na Na Na Na Na Na Het;T>C 609;33|27 Het;T>C 801;17|31 Hom;T>C 1570;0|54 N N - 2 219919754 219919754 G C snp UTR3 *175C>G IHH Ihh ENSG00000163501 indian hedgehog chr2:219919142-219925189 This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015] Bone Mineral Density; Hirschsprung's disease; Degenerative arthropathy |Osteoarthritis; Body Height; Height; height; Chronic renal failure|Kidney Failure, Chronic; Crohn Disease|Crohn's disease|Growth Disorders Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. HHAT G278V abrogates palmitoylation of Hh-Np GO:0001501;skeletal system development;IMP|GO:0001503;ossification;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001944;vasculature development;IEA|GO:0001947;heart looping;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0003406;retinal pigment epithelium development;IEA|GO:0003413;chondrocyte differentiation involved in endochondral bone morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0006508;proteolysis;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007267;cell-cell signaling;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016539;intein-mediated protein splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0030704;vitelline membrane formation;IEA|GO:0031016;pancreas development;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0032355;response to estradiol;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033085;negative regulation of T cell differentiation in thymus;IEA|GO:0033088;negative regulation of immature T cell proliferation in thymus;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035988;chondrocyte proliferation;IEA|GO:0040008;regulation of growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045453;bone resorption;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046639;negative regulation of alpha-beta T cell differentiation;IEA|GO:0048074;negative regulation of eye pigmentation;IEA|GO:0048469;cell maturation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051216;cartilage development;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0060220;camera-type eye photoreceptor cell fate commitment;IEA|GO:0060323;head morphogenesis;IEA|GO:0061053;somite development;IEA|GO:0072498;embryonic skeletal joint development;IEA|GO:0090136;epithelial cell-cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005113;patched binding;IPI|GO:0005509;calcium ion binding;IDA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IHH https://hpo.jax.org/app/browse/search?q=IHH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600726 http://www.informatics.jax.org/searchtool/Search.do?query=IHH&submit=Quick%0D%10984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IHH rs3099 0.420527 0 0 1 0 0 UTR3 UTR3 UTR3 IHH(NM_002181:c.*175C>G) IHH(uc002vjo.2:c.*175C>G) ENSG00000163501(ENST00000295731:c.*175C>G) Na Na Na Na Na Na Het;G>C 1410;89|69 Het;G>C 1116;67|49 Hom;G>C 3011;0|107 N N - 2 219920037 219920037 A G snp synonymous SNV T1128C T376T polar,hydrophilic,neutral polar,hydrophilic,neutral IHH Ihh ENSG00000163501 indian hedgehog chr2:219919142-219925189 This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015] Bone Mineral Density; Hirschsprung's disease; Degenerative arthropathy |Osteoarthritis; Body Height; Height; height; Chronic renal failure|Kidney Failure, Chronic; Crohn Disease|Crohn's disease|Growth Disorders Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. HHAT G278V abrogates palmitoylation of Hh-Np GO:0001501;skeletal system development;IMP|GO:0001503;ossification;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001944;vasculature development;IEA|GO:0001947;heart looping;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0003406;retinal pigment epithelium development;IEA|GO:0003413;chondrocyte differentiation involved in endochondral bone morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0006508;proteolysis;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007267;cell-cell signaling;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016539;intein-mediated protein splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0030704;vitelline membrane formation;IEA|GO:0031016;pancreas development;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0032355;response to estradiol;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033085;negative regulation of T cell differentiation in thymus;IEA|GO:0033088;negative regulation of immature T cell proliferation in thymus;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035988;chondrocyte proliferation;IEA|GO:0040008;regulation of growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045453;bone resorption;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046639;negative regulation of alpha-beta T cell differentiation;IEA|GO:0048074;negative regulation of eye pigmentation;IEA|GO:0048469;cell maturation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051216;cartilage development;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0060220;camera-type eye photoreceptor cell fate commitment;IEA|GO:0060323;head morphogenesis;IEA|GO:0061053;somite development;IEA|GO:0072498;embryonic skeletal joint development;IEA|GO:0090136;epithelial cell-cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005113;patched binding;IPI|GO:0005509;calcium ion binding;IDA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IHH https://hpo.jax.org/app/browse/search?q=IHH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600726 http://www.informatics.jax.org/searchtool/Search.do?query=IHH&submit=Quick%0D%10984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IHH rs394452 0.886182 0.8515 0.8358 1 0 0 exonic exonic exonic IHH IHH ENSG00000163501 synonymous SNV synonymous SNV unknown IHH:NM_002181:exon3:c.T1128C:p.T376T, IHH:uc002vjo.2:exon3:c.T1128C:p.T376T, UNKNOWN Het;A>G 1249;59|57 Het;A>G 1275;71|56 Hom;A>G 2622;0|93 N N - 2 219920412 219920412 A G snp synonymous SNV T753C P251P hydrophobic,neutral hydrophobic,neutral IHH Ihh ENSG00000163501 indian hedgehog chr2:219919142-219925189 This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015] Bone Mineral Density; Hirschsprung's disease; Degenerative arthropathy |Osteoarthritis; Body Height; Height; height; Chronic renal failure|Kidney Failure, Chronic; Crohn Disease|Crohn's disease|Growth Disorders Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. HHAT G278V abrogates palmitoylation of Hh-Np GO:0001501;skeletal system development;IMP|GO:0001503;ossification;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001944;vasculature development;IEA|GO:0001947;heart looping;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0003406;retinal pigment epithelium development;IEA|GO:0003413;chondrocyte differentiation involved in endochondral bone morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0006508;proteolysis;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007267;cell-cell signaling;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016539;intein-mediated protein splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0030704;vitelline membrane formation;IEA|GO:0031016;pancreas development;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0032355;response to estradiol;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033085;negative regulation of T cell differentiation in thymus;IEA|GO:0033088;negative regulation of immature T cell proliferation in thymus;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035988;chondrocyte proliferation;IEA|GO:0040008;regulation of growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045453;bone resorption;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046639;negative regulation of alpha-beta T cell differentiation;IEA|GO:0048074;negative regulation of eye pigmentation;IEA|GO:0048469;cell maturation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051216;cartilage development;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0060220;camera-type eye photoreceptor cell fate commitment;IEA|GO:0060323;head morphogenesis;IEA|GO:0061053;somite development;IEA|GO:0072498;embryonic skeletal joint development;IEA|GO:0090136;epithelial cell-cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005113;patched binding;IPI|GO:0005509;calcium ion binding;IDA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IHH https://hpo.jax.org/app/browse/search?q=IHH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600726 http://www.informatics.jax.org/searchtool/Search.do?query=IHH&submit=Quick%0D%10984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IHH rs3731881 0.484824 0.5944 0.5990 1 0 0 exonic exonic exonic IHH IHH ENSG00000163501 synonymous SNV synonymous SNV unknown IHH:NM_002181:exon3:c.T753C:p.P251P, IHH:uc002vjo.2:exon3:c.T753C:p.P251P, UNKNOWN Het;A>G 3238;141|138 Het;A>G 2907;113|127 Hom;A>G 7856;2|276 N N - 2 219922073 219922073 G GC indel intronic IHH Ihh ENSG00000163501 indian hedgehog chr2:219919142-219925189 This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015] Bone Mineral Density; Hirschsprung's disease; Degenerative arthropathy |Osteoarthritis; Body Height; Height; height; Chronic renal failure|Kidney Failure, Chronic; Crohn Disease|Crohn's disease|Growth Disorders Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. HHAT G278V abrogates palmitoylation of Hh-Np GO:0001501;skeletal system development;IMP|GO:0001503;ossification;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001763;morphogenesis of a branching structure;IEA|GO:0001944;vasculature development;IEA|GO:0001947;heart looping;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0003406;retinal pigment epithelium development;IEA|GO:0003413;chondrocyte differentiation involved in endochondral bone morphogenesis;IEA|GO:0006029;proteoglycan metabolic process;IEA|GO:0006508;proteolysis;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007267;cell-cell signaling;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0009880;embryonic pattern specification;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016539;intein-mediated protein splicing;IEA|GO:0030154;cell differentiation;IEA|GO:0030704;vitelline membrane formation;IEA|GO:0031016;pancreas development;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0032355;response to estradiol;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033085;negative regulation of T cell differentiation in thymus;IEA|GO:0033088;negative regulation of immature T cell proliferation in thymus;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035264;multicellular organism growth;IEA|GO:0035988;chondrocyte proliferation;IEA|GO:0040008;regulation of growth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045453;bone resorption;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0046639;negative regulation of alpha-beta T cell differentiation;IEA|GO:0048074;negative regulation of eye pigmentation;IEA|GO:0048469;cell maturation;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048745;smooth muscle tissue development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0051216;cartilage development;IEA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0060220;camera-type eye photoreceptor cell fate commitment;IEA|GO:0060323;head morphogenesis;IEA|GO:0061053;somite development;IEA|GO:0072498;embryonic skeletal joint development;IEA|GO:0090136;epithelial cell-cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005113;patched binding;IPI|GO:0005509;calcium ion binding;IDA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IHH https://hpo.jax.org/app/browse/search?q=IHH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600726 http://www.informatics.jax.org/searchtool/Search.do?query=IHH&submit=Quick%0D%10984ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IHH rs34694069 0.484225 0 0 1 0 0 intronic intronic intronic IHH IHH ENSG00000163501 Na Na Na Na Na Na Het;+C 225;4|8 Het;+C 79;7|4 Hom;+C 443;0|11 N N - 2 219923410 219923410 G GAGA indel ncRNA_exonic MIR3131 rs57408770 0.494409 0 0.5786 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR3131 MIR3131 ENSG00000264755 Na Na Na Na Na Na Het;+AGA 1013;14|26 Het;+AGA 985;51|28 Hom;+AGA 3002;0|68 N N - 2 219941063 219941063 G A snp unknown NHEJ1 Nhej1 ENSG00000187736 non-homologous end joining factor 1 chr2:219940039-220025587 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] head and neck cancer; Body Height; multiple sclerosis; height ES cells that are null homozygous are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. Nonhomologous End-Joining (NHEJ) GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007417;central nervous system development;NAS|GO:0010212;response to ionizing radiation;IDA|GO:0030183;B cell differentiation;IMP|GO:0030217;T cell differentiation;IMP|GO:0051351;positive regulation of ligase activity;NAS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032807;DNA ligase IV complex;IBA|GO:0070419;nonhomologous end joining complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0045027;DNA end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NHEJ1 https://hpo.jax.org/app/browse/search?q=NHEJ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611290 http://www.informatics.jax.org/searchtool/Search.do?query=NHEJ1&submit=Quick%0D%15884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHEJ1 rs897477 0.638379 0.7402 0.7109 1 0 0 UTR3 UTR3 exonic NHEJ1(NM_024782:c.*40C>T) NHEJ1(uc002vjp.4:c.*40C>T) ENSG00000187736 Na Na unknown Na Na UNKNOWN Het;G>A 253;5|13 Het;G>A 87;2|5 Hom;G>A 829;0|32 N N - 2 220012576 220012576 G C snp intronic NHEJ1 Nhej1 ENSG00000187736 non-homologous end joining factor 1 chr2:219940039-220025587 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] head and neck cancer; Body Height; multiple sclerosis; height ES cells that are null homozygous are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. Nonhomologous End-Joining (NHEJ) GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007417;central nervous system development;NAS|GO:0010212;response to ionizing radiation;IDA|GO:0030183;B cell differentiation;IMP|GO:0030217;T cell differentiation;IMP|GO:0051351;positive regulation of ligase activity;NAS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032807;DNA ligase IV complex;IBA|GO:0070419;nonhomologous end joining complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0045027;DNA end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NHEJ1 https://hpo.jax.org/app/browse/search?q=NHEJ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611290 http://www.informatics.jax.org/searchtool/Search.do?query=NHEJ1&submit=Quick%0D%15884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHEJ1 rs7585742 0.413738 0 0 1 0 0 intronic intronic intronic NHEJ1 NHEJ1 ENSG00000187736,ENSG00000213901 Na Na Na Na Na Na Het;G>C 848;14|31 Het;G>C 426;31|20 Hom;G>C 1289;0|41 N N - 2 220022074 220022074 A G snp intronic NHEJ1 Nhej1 ENSG00000187736 non-homologous end joining factor 1 chr2:219940039-220025587 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] head and neck cancer; Body Height; multiple sclerosis; height ES cells that are null homozygous are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. Nonhomologous End-Joining (NHEJ) GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007417;central nervous system development;NAS|GO:0010212;response to ionizing radiation;IDA|GO:0030183;B cell differentiation;IMP|GO:0030217;T cell differentiation;IMP|GO:0051351;positive regulation of ligase activity;NAS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032807;DNA ligase IV complex;IBA|GO:0070419;nonhomologous end joining complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0045027;DNA end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NHEJ1 https://hpo.jax.org/app/browse/search?q=NHEJ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611290 http://www.informatics.jax.org/searchtool/Search.do?query=NHEJ1&submit=Quick%0D%15884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHEJ1 rs12694451 0.413938 0 0 1 0 0 intronic intronic intronic NHEJ1 NHEJ1 ENSG00000187736,ENSG00000213901 Na Na Na Na Na Na Het;A>G 170;11|6 Het;A>G 139;4|5 Hom;A>G 259;0|7 N N - 2 220022435 220022435 G C snp intronic NHEJ1 Nhej1 ENSG00000187736 non-homologous end joining factor 1 chr2:219940039-220025587 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] head and neck cancer; Body Height; multiple sclerosis; height ES cells that are null homozygous are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. Nonhomologous End-Joining (NHEJ) GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007417;central nervous system development;NAS|GO:0010212;response to ionizing radiation;IDA|GO:0030183;B cell differentiation;IMP|GO:0030217;T cell differentiation;IMP|GO:0051351;positive regulation of ligase activity;NAS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032807;DNA ligase IV complex;IBA|GO:0070419;nonhomologous end joining complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0045027;DNA end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NHEJ1 https://hpo.jax.org/app/browse/search?q=NHEJ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611290 http://www.informatics.jax.org/searchtool/Search.do?query=NHEJ1&submit=Quick%0D%15884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHEJ1 rs2030452 0.415735 0.5133 0.5910 1 0 0 intronic intronic intronic NHEJ1 NHEJ1 ENSG00000187736,ENSG00000213901 Na Na Na Na Na Na Het;G>C 905;25|36 Het;G>C 553;13|24 Hom;G>C 1504;0|52 N N - 2 220023196 220023196 A C snp intronic NHEJ1 Nhej1 ENSG00000187736 non-homologous end joining factor 1 chr2:219940039-220025587 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] head and neck cancer; Body Height; multiple sclerosis; height ES cells that are null homozygous are sensitive to ionizing radiation and have defects in DNA repair. Lymphocyte numbers are modestly decreased in null homozygous mice. Nonhomologous End-Joining (NHEJ) GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007417;central nervous system development;NAS|GO:0010212;response to ionizing radiation;IDA|GO:0030183;B cell differentiation;IMP|GO:0030217;T cell differentiation;IMP|GO:0051351;positive regulation of ligase activity;NAS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032807;DNA ligase IV complex;IBA|GO:0070419;nonhomologous end joining complex;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0045027;DNA end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NHEJ1 https://hpo.jax.org/app/browse/search?q=NHEJ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611290 http://www.informatics.jax.org/searchtool/Search.do?query=NHEJ1&submit=Quick%0D%15884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHEJ1 rs2293069 0.413738 0 0 1 0 0 intronic intronic intronic NHEJ1 NHEJ1 ENSG00000187736,ENSG00000213901 Na Na Na Na Na Na Het;A>C 181;4|6 Ref Hom;A>C 178;0|5 N N - 2 220028900 220028900 A G snp intronic SLC23A3 Slc23a3 ENSG00000213901 solute carrier family 23 member 3 chr2:219940051-220035549 height; Height GO:0006810;transport;IEA|GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC23A3 http://www.informatics.jax.org/searchtool/Search.do?query=SLC23A3&submit=Quick%0D%18177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC23A3 rs6753739 0.613818 0 0 1 0 0 intronic intronic intronic SLC23A3 SLC23A3 ENSG00000213901 Na Na Na Na Na Na Het;A>G 794;23|32 Het;A>G 326;35|17 Hom;A>G 1562;0|57 N N - 2 220046349 220046349 G C snp intronic FAM134A Fam134a rs2272017 0.461062 0.6164 0.6251 1 0 0 intronic intronic intronic FAM134A FAM134A ENSG00000144567 Na Na Na Na Na Na Het;G>C 830;43|33 Het;G>C 614;44|26 Hom;G>C 2348;0|80 N N - 2 220285309 220285309 C T snp synonymous SNV C828T D276D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) DES Des ENSG00000175084 desmin chr2:220283099-220291461 This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008] Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive|DCM - Dilated cardiomyopathy|Hypertrophic Cardiomyopathy; cardiomyopathy; desmin-associated restrictive cardiomyopathy.; hypertrophic cardiomyopathy Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. Striated Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0030049;muscle filament sliding;TAS|GO:0045109;intermediate filament organization;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0030018;Z disc;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0097512;cardiac myofibril;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DES https://hpo.jax.org/app/browse/search?q=DES&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125660 http://www.informatics.jax.org/searchtool/Search.do?query=DES&submit=Quick%0D%13631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DES rs1058261 0.33746 0.3845 0.3363 1 0 0 exonic exonic exonic DES DES ENSG00000175084 synonymous SNV synonymous SNV unknown DES:NM_001927:exon4:c.C828T:p.D276D, DES:uc002vll.3:exon4:c.C828T:p.D276D, UNKNOWN Het;C>T 1080;46|47 Het;C>T 419;44|25 Hom;C>T 2732;0|100 N N - 2 220285666 220285666 G C snp synonymous SNV G1014C L338L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DES Des ENSG00000175084 desmin chr2:220283099-220291461 This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008] Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive|DCM - Dilated cardiomyopathy|Hypertrophic Cardiomyopathy; cardiomyopathy; desmin-associated restrictive cardiomyopathy.; hypertrophic cardiomyopathy Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. Striated Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0030049;muscle filament sliding;TAS|GO:0045109;intermediate filament organization;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0030018;Z disc;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0097512;cardiac myofibril;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DES https://hpo.jax.org/app/browse/search?q=DES&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125660 http://www.informatics.jax.org/searchtool/Search.do?query=DES&submit=Quick%0D%13631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DES rs12920 0.33766 0.3866 0.3414 1 0 0 exonic exonic exonic DES DES ENSG00000175084 synonymous SNV synonymous SNV unknown DES:NM_001927:exon5:c.G1014C:p.L338L, DES:uc002vll.3:exon5:c.G1014C:p.L338L, UNKNOWN Het;G>C 2977;117|129 Het;G>C 2787;86|127 Hom;G>C 6484;0|236 N N - 2 220286142 220286142 G A snp synonymous SNV G1104A A368A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DES Des ENSG00000175084 desmin chr2:220283099-220291461 This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008] Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Cardiomyopathy, Restrictive|DCM - Dilated cardiomyopathy|Hypertrophic Cardiomyopathy; cardiomyopathy; desmin-associated restrictive cardiomyopathy.; hypertrophic cardiomyopathy Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. Striated Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0007010;cytoskeleton organization;TAS|GO:0008016;regulation of heart contraction;TAS|GO:0030049;muscle filament sliding;TAS|GO:0045109;intermediate filament organization;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;TAS|GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0030018;Z disc;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043292;contractile fiber;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA|GO:0097512;cardiac myofibril;IDA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DES https://hpo.jax.org/app/browse/search?q=DES&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125660 http://www.informatics.jax.org/searchtool/Search.do?query=DES&submit=Quick%0D%13631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DES rs1058284 0.333666 0.3844 0.3362 1 0 0 exonic exonic exonic DES DES ENSG00000175084 synonymous SNV synonymous SNV unknown DES:NM_001927:exon6:c.G1104A:p.A368A, DES:uc002vll.3:exon6:c.G1104A:p.A368A, UNKNOWN Het;G>A 2425;127|120 Het;G>A 1921;128|96 Hom;G>A 6181;1|231 N N - 2 220330616 220330616 C T snp UTR3 *1263C>T SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs4399716 0.355631 0 0 1 0 0 intronic UTR3 intronic SPEG SPEG(uc002vln.1:c.*1263C>T,uc002vlp.1:c.*1263C>T) ENSG00000072195 Na Na Na Na Na Na Het;C>T 125;7|6 Ref Hom;C>T 80;0|3 N N - 2 220336517 220336517 C T snp intronic SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs73991563 0.313698 0 0 1 0 0 intronic intronic intronic SPEG SPEG ENSG00000072195 Na Na Na Na Na Na Het;C>T 463;24|22 Het;C>T 338;11|12 Hom;C>T 911;0|33 N N - 2 220348751 220348751 C T snp nonsynonymous SNV C6566T P2189L hydrophobic,neutral aliphatic,hydrophobic,neutral SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs10755037 0.285543 0.2508 0.2739 0.23 3 13 exonic exonic exonic SPEG SPEG ENSG00000072195 nonsynonymous SNV nonsynonymous SNV unknown SPEG:NM_005876:exon30:c.C6566T:p.P2189L, SPEG:uc010fwg.3:exon30:c.C6566T:p.P2189L, UNKNOWN Het;C>T 2061;78|90 Het;C>T 2023;95|89 Hom;C>T 3704;2|136 N N - 2 220353013 220353013 G A snp synonymous SNV G7839A P2613P hydrophobic,neutral hydrophobic,neutral SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs875098 0.286342 0.2564 0.2761 1 0 0 exonic exonic exonic SPEG SPEG ENSG00000072195 synonymous SNV synonymous SNV unknown SPEG:NM_005876:exon32:c.G7839A:p.P2613P, SPEG:uc010fwg.3:exon32:c.G7839A:p.P2613P, UNKNOWN Het;G>A 967;55|46 Het;G>A 1149;45|50 Hom;G>A 2084;0|77 N N - 2 220353440 220353440 G T snp ncRNA_intronic AC053503.1 rs62191888 0.360823 0 0 1 0 0 intronic intronic ncRNA_intronic SPEG SPEG ENSG00000227432 Na Na Na Na Na Na Het;G>T 651;41|29 Het;G>T 662;26|30 Hom;G>T 1741;0|62 N N - 2 220354108 220354108 A G snp nonsynonymous SNV A8368G R2790G polar,hydrophilic,charged(+) aliphatic,neutral SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs55760516 0.408347 0.3737 0.3622 0.15 2 13 exonic exonic exonic SPEG SPEG ENSG00000072195 nonsynonymous SNV nonsynonymous SNV unknown SPEG:NM_005876:exon36:c.A8368G:p.R2790G, SPEG:uc010fwg.3:exon36:c.A8368G:p.R2790G, UNKNOWN Het;A>G 688;56|30 Het;A>G 1258;59|57 Hom;A>G 3298;1|120 N N - 2 220354365 220354365 C T snp synonymous SNV C8625T F2875F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs56132883 0.286542 0.2568 0.2751 1 0 0 exonic exonic exonic SPEG SPEG ENSG00000072195 synonymous SNV synonymous SNV unknown SPEG:NM_005876:exon36:c.C8625T:p.F2875F, SPEG:uc010fwg.3:exon36:c.C8625T:p.F2875F, UNKNOWN Het;C>T 3954;164|177 Het;C>T 2882;159|139 Hom;C>T 8387;0|313 N N - 2 220354757 220354757 G C snp ncRNA_intronic AC053503.1 rs6742231 0.391573 0 0 1 0 0 intronic intronic ncRNA_intronic SPEG SPEG ENSG00000227432 Na Na Na Na Na Na Het;G>C 248;14|11 Het;G>C 175;7|7 Hom;G>C 352;0|13 N N - 2 220355529 220355529 A G snp nonsynonymous SNV A9236G H3079R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs12464085 0.400958 0.3895 0.3552 0.15 2 13 exonic exonic exonic SPEG SPEG ENSG00000072195 nonsynonymous SNV nonsynonymous SNV unknown SPEG:NM_005876:exon38:c.A9236G:p.H3079R, SPEG:uc010fwg.3:exon38:c.A9236G:p.H3079R, UNKNOWN Het;A>G 1483;91|66 Het;A>G 1576;95|73 Hom;A>G 5432;0|195 N N - 2 220356449 220356449 G C snp ncRNA_intronic AC053503.1 rs6747041 0.394968 0 0 1 0 0 intronic intronic ncRNA_intronic SPEG SPEG ENSG00000227432 Na Na Na Na Na Na Het;G>C 1019;42|42 Het;G>C 385;37|16 Hom;G>C 1897;0|63 N N - 2 220356520 220356520 G T snp synonymous SNV G9390T P3130P hydrophobic,neutral hydrophobic,neutral SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs12473286 0.280751 0.2569 0.2798 1 0 0 exonic exonic exonic SPEG SPEG ENSG00000072195 synonymous SNV synonymous SNV unknown SPEG:NM_005876:exon39:c.G9390T:p.P3130P, SPEG:uc010fwg.3:exon39:c.G9390T:p.P3130P, UNKNOWN Het;G>T 1913;93|92 Het;G>T 932;84|49 Hom;G>T 3861;2|150 N N - 2 220357594 220357594 C A snp UTR3 *86C>A SPEG Speg ENSG00000072195 SPEG complex locus chr2:220299568-220363009 This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. GO:0006468;protein phosphorylation;IEA|GO:0007517;muscle organ development;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0042692;muscle cell differentiation;IEA GO:0005634;nucleus;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPEG https://www.uniprot.org/uniprot/Q15772 https://hpo.jax.org/app/browse/search?q=SPEG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615950 http://www.informatics.jax.org/searchtool/Search.do?query=SPEG&submit=Quick%0D%1426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPEG rs1078212 0.400759 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic SPEG(NM_005876:c.*86C>A) SPEG(uc010fwg.3:c.*86C>A) ENSG00000227432 Na Na Na Na Na Na Het;C>A 72;5|3 Ref Hom;C>A 174;0|5 N N - 2 220361457 220361457 A T snp ncRNA_intronic AC053503.1 rs77449817 0.095647 0 0 1 0 0 intronic intergenic ncRNA_intronic LOC100996693 SPEG(dist=3103),GMPPA(dist=2130) ENSG00000227432 Na Na Na Na Na Na Het;A>T 177;15|9 Het;A>T 188;12|8 Hom;A>T 245;0|9 N N - 2 220361486 220361486 G A snp ncRNA_intronic AC053503.1 rs2010592 0.416733 0 0.3939 1 0 0 intronic intergenic ncRNA_intronic LOC100996693 SPEG(dist=3132),GMPPA(dist=2101) ENSG00000227432 Na Na Na Na Na Na Het;G>A 288;24|13 Het;G>A 485;17|16 Hom;G>A 564;0|19 N N - 2 220361520 220361520 C G snp ncRNA_intronic AC053503.1 rs16859986 0.286741 0 0.3200 1 0 0 intronic intergenic ncRNA_intronic LOC100996693 SPEG(dist=3166),GMPPA(dist=2067) ENSG00000227432 Na Na Na Na Na Na Het;C>G 430;34|19 Het;C>G 954;33|37 Hom;C>G 1297;0|45 N N - 2 220362557 220362557 C T snp synonymous SNV C552T D184D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) LOC100996693 rs12474050 0.417133 0 0.4341 1 0 0 exonic intergenic exonic LOC100996693 SPEG(dist=4203),GMPPA(dist=1030) ENSG00000072195 synonymous SNV Na unknown LOC100996693:NM_001286811:exon3:c.C552T:p.D184D, Na UNKNOWN Het;C>T 1779;93|86 Het;C>T 1330;85|61 Hom;C>T 3426;1|131 N N - 2 220363917 220363917 G A snp UTR5 -781G>A GMPPA Gmppa ENSG00000144591 GDP-mannose pyrophosphorylase A chr2:220363589-220371710 This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008] Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction Synthesis of GDP-mannose GO:0009058;biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GMPPA https://www.uniprot.org/uniprot/Q96IJ6 https://hpo.jax.org/app/browse/search?q=GMPPA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615495 http://www.informatics.jax.org/searchtool/Search.do?query=GMPPA&submit=Quick%0D%8628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GMPPA rs719337 0.284944 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic GMPPA(NM_205847:c.-781G>A) GMPPA(uc002vlv.3:c.-781G>A) ENSG00000227432 Na Na Na Na Na Na Het;G>A 893;49|45 Het;G>A 909;41|42 Hom;G>A 2597;0|99 N N - 2 220431631 220431631 G T snp synonymous SNV C2055A A685A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OBSL1 Obsl1 ENSG00000124006 obscurin like 1 chr2:220415451-220436581 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] 3-M syndrome 2 Neddylation GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006941;striated muscle contraction;IBA|GO:0007010;cytoskeleton organization;NAS|GO:0007015;actin filament organization;IBA|GO:0007030;Golgi organization;IMP|GO:0007088;regulation of mitotic nuclear division;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0043687;post-translational protein modification;TAS|GO:0045214;sarcomere organization;IBA|GO:0050775;positive regulation of dendrite morphogenesis;IMP|GO:0055003;cardiac myofibril assembly;NAS|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005859;muscle myosin complex;IBA|GO:0014704;intercalated disc;TAS|GO:0030018;Z disc;TAS|GO:0031430;M band;TAS|GO:0048471;perinuclear region of cytoplasm;TAS|GO:1990393;3M complex;IDA GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;NAS|GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OBSL1 https://www.uniprot.org/uniprot/O75147 https://hpo.jax.org/app/browse/search?q=OBSL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610991 http://www.informatics.jax.org/searchtool/Search.do?query=OBSL1&submit=Quick%0D%5579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OBSL1 rs1043537 0.170927 0.1951 0.2267 1 0 0 exonic exonic exonic OBSL1 OBSL1 ENSG00000124006 synonymous SNV synonymous SNV unknown OBSL1:NM_001173431:exon5:c.C2055A:p.A685A,OBSL1:NM_015311:exon5:c.C2055A:p.A685A,OBSL1:NM_001173408:exon5:c.C2055A:p.A685A, OBSL1:uc010fwk.3:exon5:c.C2055A:p.A685A,OBSL1:uc002vmi.3:exon5:c.C2055A:p.A685A,OBSL1:uc010fwl.2:exon5:c.C2055A:p.A685A, UNKNOWN Het;G>T 1498;71|62 Het;G>T 1417;63|68 Hom;G>T 3986;2|143 N N - 2 220432014 220432014 G A snp synonymous SNV C1818T F606F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral OBSL1 Obsl1 ENSG00000124006 obscurin like 1 chr2:220415451-220436581 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] 3-M syndrome 2 Neddylation GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006941;striated muscle contraction;IBA|GO:0007010;cytoskeleton organization;NAS|GO:0007015;actin filament organization;IBA|GO:0007030;Golgi organization;IMP|GO:0007088;regulation of mitotic nuclear division;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0043687;post-translational protein modification;TAS|GO:0045214;sarcomere organization;IBA|GO:0050775;positive regulation of dendrite morphogenesis;IMP|GO:0055003;cardiac myofibril assembly;NAS|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005859;muscle myosin complex;IBA|GO:0014704;intercalated disc;TAS|GO:0030018;Z disc;TAS|GO:0031430;M band;TAS|GO:0048471;perinuclear region of cytoplasm;TAS|GO:1990393;3M complex;IDA GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;NAS|GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OBSL1 https://www.uniprot.org/uniprot/O75147 https://hpo.jax.org/app/browse/search?q=OBSL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610991 http://www.informatics.jax.org/searchtool/Search.do?query=OBSL1&submit=Quick%0D%5579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OBSL1 rs61732787 0.171725 0.1959 0.2486 1 0 0 exonic exonic exonic OBSL1 OBSL1 ENSG00000124006 synonymous SNV synonymous SNV unknown OBSL1:NM_001173431:exon4:c.C1818T:p.F606F,OBSL1:NM_015311:exon4:c.C1818T:p.F606F,OBSL1:NM_001173408:exon4:c.C1818T:p.F606F, OBSL1:uc010fwk.3:exon4:c.C1818T:p.F606F,OBSL1:uc002vmi.3:exon4:c.C1818T:p.F606F,OBSL1:uc010fwl.2:exon4:c.C1818T:p.F606F, UNKNOWN Het;G>A 1678;104|75 Het;G>A 1352;84|65 Hom;G>A 4993;0|184 N N - 2 220433113 220433113 T C snp intronic OBSL1 Obsl1 ENSG00000124006 obscurin like 1 chr2:220415451-220436581 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] 3-M syndrome 2 Neddylation GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006941;striated muscle contraction;IBA|GO:0007010;cytoskeleton organization;NAS|GO:0007015;actin filament organization;IBA|GO:0007030;Golgi organization;IMP|GO:0007088;regulation of mitotic nuclear division;IMP|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0043687;post-translational protein modification;TAS|GO:0045214;sarcomere organization;IBA|GO:0050775;positive regulation of dendrite morphogenesis;IMP|GO:0055003;cardiac myofibril assembly;NAS|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005859;muscle myosin complex;IBA|GO:0014704;intercalated disc;TAS|GO:0030018;Z disc;TAS|GO:0031430;M band;TAS|GO:0048471;perinuclear region of cytoplasm;TAS|GO:1990393;3M complex;IDA GO:0005515;protein binding;IPI|GO:0008093;cytoskeletal adaptor activity;NAS|GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OBSL1 https://www.uniprot.org/uniprot/O75147 https://hpo.jax.org/app/browse/search?q=OBSL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610991 http://www.informatics.jax.org/searchtool/Search.do?query=OBSL1&submit=Quick%0D%5579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OBSL1 rs12623922 0.170128 0 0 1 0 0 intronic intronic intronic OBSL1 OBSL1 ENSG00000124006 Na Na Na Na Na Na Het;T>C 191;12|10 Het;T>C 520;22|21 Hom;T>C 960;0|32 N N - 2 220436973 220436973 A G snp UTR5 -124A>G INHA Inha ENSG00000123999 inhibin alpha subunit chr2:220433884-220440435 This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016] prostate cancer; POF - Premature ovarian failure|Primary Ovarian Insufficiency; premature ovarian failure; breast cancer|prostate cancer; Abortion, Habitual|Infertility, Female; preeclampsia; Ovarian Failure, Premature; Pre-Eclampsia; Disease Models, Animal|Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; epithelial ovarian cancer Mutant mice develop gonadal sex cord-stromal tumors with nearly 100% penetrance and develop cachexia-like symptoms. The wasting syndrome is not observed in gonadectomized mutant mice, which develop adrenal tumors. Glycoprotein hormones GO:0001501;skeletal system development;TAS|GO:0001541;ovarian follicle development;NAS|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;NAS|GO:0008584;male gonad development;IEA|GO:0009605;response to external stimulus;TAS|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030154;cell differentiation;TAS|GO:0030218;erythrocyte differentiation;NAS|GO:0030509;BMP signaling pathway;IBA|GO:0042127;regulation of cell proliferation;IDA|GO:0042326;negative regulation of phosphorylation;TAS|GO:0042541;hemoglobin biosynthetic process;IDA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0045077;negative regulation of interferon-gamma biosynthetic process;TAS|GO:0045578;negative regulation of B cell differentiation;TAS|GO:0045650;negative regulation of macrophage differentiation;TAS|GO:0045786;negative regulation of cell cycle;TAS|GO:0046881;positive regulation of follicle-stimulating hormone secretion;TAS|GO:0046882;negative regulation of follicle-stimulating hormone secretion;NAS|GO:0048468;cell development;IBA|GO:0051726;regulation of cell cycle;IDA|GO:0060395;SMAD protein signal transduction;IBA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0034673;inhibin-betaglycan-ActRII complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0043512;inhibin A complex;IDA|GO:0043513;inhibin B complex;IEA GO:0005102;receptor binding;IPI|GO:0005125;cytokine activity;TAS|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005179;hormone activity;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0034711;inhibin binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/INHA https://www.uniprot.org/uniprot/P05111 https://www.ncbi.nlm.nih.gov/omim/?term=147380 http://www.informatics.jax.org/searchtool/Search.do?query=INHA&submit=Quick%0D%5577ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INHA rs11893842 0.420927 0 0 1 0 0 UTR5 UTR5 UTR5 INHA(NM_002191:c.-124A>G) INHA(uc002vmk.2:c.-124A>G) ENSG00000123999(ENST00000243786:c.-124A>G) Na Na Na Na Na Na Het;A>G 113;4|4 Ref Hom;A>G 221;0|6 N N - 2 220492462 220492462 C A snp UTR5 -253C>A SLC4A3 Slc4a3 ENSG00000114923 solute carrier family 4 member 3 chr2:220492049-220506702 The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016] febrile seizures; epilepsy Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents. Bicarbonate transporters GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0051453;regulation of intracellular pH;IBA|GO:0098656;anion transmembrane transport;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;TAS|GO:0008509;anion transmembrane transporter activity;IBA|GO:0015297;antiporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC4A3 https://www.uniprot.org/uniprot/P48751 https://www.ncbi.nlm.nih.gov/omim/?term=106195 http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A3&submit=Quick%0D%4519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A3 Na 0 0 0 1 0 0 UTR5 UTR5 UTR5 SLC4A3(NM_005070:c.-253C>A,NM_201574:c.-253C>A) SLC4A3(uc002vmn.2:c.-253C>A,uc002vmo.4:c.-253C>A,uc002vmp.4:c.-253C>A) ENSG00000114923(ENST00000358055:c.-253C>A,ENST00000273063:c.-253C>A,ENST00000373762:c.-253C>A,ENST00000425141:c.-253C>A,ENST00000317151:c.-253C>A) Na Na Na Na Na Na Het;C>A 127;4|7 Ref Hom;C>A 257;0|11 N N - 2 220771223 220771223 C T snp ncRNA_exonic MIR4268 rs4674470 0.798123 0 0.8057 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR4268 MIR4268 ENSG00000266518 Na Na Na Na Na Na Het;C>T 377;34|22 Het;C>T 324;37|19 Hom;C>T 1899;0|71 N N - 2 220771290 220771290 G A snp upstream MIR4268 rs4674471 0.789137 0 0.7991 1 0 0 upstream upstream upstream MIR4268 MIR4268 ENSG00000266518 Na Na Na Na Na Na Het;G>A 311;26|18 Het;G>A 335;43|20 Hom;G>A 1749;0|64 N N - 2 220771310 220771310 A G snp upstream MIR4268 rs4674472 0.797923 0 0.8057 1 0 0 upstream upstream upstream MIR4268 MIR4268 ENSG00000266518 Na Na Na Na Na Na Het;A>G 161;18|9 Het;A>G 344;38|19 Hom;A>G 1286;0|45 N N - 2 220960240 220960240 C A snp intergenic MIR4268 rs10175762 0.428315 0 0 1 0 0 intergenic intergenic intergenic MIR4268(dist=188954),EPHA4(dist=1322507) MIR4268(dist=188954),EPHA4(dist=1322507) ENSG00000225911(dist=46247),ENSG00000239498(dist=10137) Na Na Na Na Na Na Het;C>A 83;2|4 Ref Hom;C>A 102;0|5 N N - 2 225781670 225781670 T C snp intronic DOCK10 Dock10 ENSG00000135905 dedicator of cytokinesis 10 chr2:225629807-225907162 This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014] Attention Deficit Disorder with Hyperactivity Mice homozygous for a knock-out allele exhibit a reduction of B cell numbers in secondary lymphoid organs. Follicular B cells show membrane CD23 overexpression. Factors involved in megakaryocyte development and platelet production GO:0001782;B cell homeostasis;ISS|GO:0002315;marginal zone B cell differentiation;ISS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0030334;regulation of cell migration;IDA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0060997;dendritic spine morphogenesis;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK10 https://www.uniprot.org/uniprot/Q96BY6 https://www.ncbi.nlm.nih.gov/omim/?term=611518 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK10&submit=Quick%0D%7240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK10 rs13013616 0.58107 0 0 1 0 0 intronic intronic intronic DOCK10 DOCK10 ENSG00000135905 Na Na Na Na Na Na Het;T>C 88;7|4 Ref Hom;T>C 82;0|3 N N - 2 227872617 227872617 A G snp intronic COL4A4 Col4a4 ENSG00000081052 collagen type IV alpha 4 chain chr2:227867427-228028829 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] Keratoconus; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; nephropathy; Glomerulonephritis, Membranous; Tobacco Use Disorder; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; keratoconus; cleft lip with cleft palate cleft lip without cleft palate cleft palate Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss. Collagen chain trimerization GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0032836;glomerular basement membrane development;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;IDA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IMP http://www.genecards.org/index.php?path=/Search/keyword/COL4A4 https://www.uniprot.org/uniprot/P53420 https://hpo.jax.org/app/browse/search?q=COL4A4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120131 http://www.informatics.jax.org/searchtool/Search.do?query=COL4A4&submit=Quick%0D%1757ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A4 rs9288618 0.541134 0 0 1 0 0 intronic intronic intronic COL4A4 COL4A4 ENSG00000081052 Na Na Na Na Na Na Het;A>G 311;8|11 Ref Hom;A>G 139;0|4 N N - 2 228142038 228142041 GAAA G indel ncRNA_intronic LOC654841 rs775545588 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC654841 LOC654841 ENSG00000236432 Na Na Na Na Na Na Het;-AAA 66;4|7 Ref Hom;-AAA 174;1|6 N N - 2 228794998 228794998 A G snp intergenic DAW1 Daw1 ENSG00000123977 dynein assembly factor with WD repeats 1 chr2:228735770-228789060 Parkinson Disease; Blood pressure Mice homozygous for an induced mutation exhibit dextrocardia associated with situs inversus totalis, overriding aorta, ventricular septal defects, and dual inferior vena cava as well as dextrogastria, hypoplastic spleen, inverted liver, lung lobation/isomerism and dyskinetic/immotile airway cilia GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA http://www.genecards.org/index.php?path=/Search/keyword/DAW1 https://www.uniprot.org/uniprot/Q8N136 http://www.informatics.jax.org/searchtool/Search.do?query=DAW1&submit=Quick%0D%5573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DAW1 rs72617138 0.497005 0 0 1 0 0 intergenic intergenic intergenic DAW1(dist=5972),SPHKAP(dist=49672) DAW1(dist=5972),SPHKAP(dist=49672) ENSG00000123977(dist=5938),ENSG00000153820(dist=49668) Na Na Na Na Na Na Het;A>G 53;2|4 Ref Hom;A>G 71;0|4 N N - 2 230705516 230705517 TA T indel intronic TRIP12 Trip12 ENSG00000153827 thyroid hormone receptor interactor 12 chr2:230628554-230787955 thyroid cancer; Tobacco Use Disorder Mice homozygous for a targeted allele exhibit complete embryonic lethality during organogenesis associated with embryonic growth retardation and abnormal placenta development. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009790;embryo development;ISS|GO:0016567;protein ubiquitination;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:1901315;negative regulation of histone H2A K63-linked ubiquitination;IMP|GO:2000780;negative regulation of double-strand break repair;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0046966;thyroid hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRIP12 https://www.uniprot.org/uniprot/Q14669 https://hpo.jax.org/app/browse/search?q=TRIP12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604506 http://www.informatics.jax.org/searchtool/Search.do?query=TRIP12&submit=Quick%0D%9693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP12 rs34481385 0.330072 0 0.4152 1 0 0 intronic intronic intronic TRIP12 TRIP12 ENSG00000153827 Na Na Na Na Na Na Het;-A 255;35|20 Het;-A 441;15|27 Hom;-A 776;4|41 N N - 2 231266626 231266626 G A snp intronic SP140L ENSG00000185404 SP140 nuclear body protein like chr2:231191899-231268447 Platelet Count; Tobacco Use Disorder; longevity GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP140L http://www.informatics.jax.org/searchtool/Search.do?query=SP140L&submit=Quick%0D%15410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP140L rs141046703 0.208466 0 0 1 0 0 intronic intronic intronic SP140L SP140L ENSG00000185404 Na Na Na Na Na Na Het;G>A 282;16|11 Ref Hom;G>A 949;0|31 N N - 2 232396052 232396052 C G snp upstream NMUR1 Nmur1 ENSG00000171596 neuromedin U receptor 1 chr2:232387871-232395206 Blood Pressure Determination; Coronary Artery Disease; Metabolism Homozygous null mice are healthy and viable. G alpha (i) signalling events GO:0006816;calcium ion transport;IDA|GO:0006821;chloride transport;IDA|GO:0006939;smooth muscle contraction;IEP|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007202;activation of phospholipase C activity;IDA|GO:0007218;neuropeptide signaling pathway;TAS|GO:0019722;calcium-mediated signaling;IDA|GO:0048016;inositol phosphate-mediated signaling;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0001607;neuromedin U receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0008188;neuropeptide receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NMUR1 https://www.ncbi.nlm.nih.gov/omim/?term=604153 http://www.informatics.jax.org/searchtool/Search.do?query=NMUR1&submit=Quick%0D%12970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NMUR1 rs3754980 0.350439 0 0 1 0 0 upstream upstream upstream NMUR1 NMUR1 ENSG00000171596 Na Na Na Na Na Na Het;C>G 90;4|6 Ref Hom;C>G 157;0|7 N N - 2 233233888 233233888 C T snp intergenic DIS3L2 Dis3l2 ENSG00000144535 DIS3 like 3'-5' exoribonuclease 2 chr2:232825955-233209060 The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012] Body Height; Tobacco Use Disorder; Cholesterol, HDL; height Null mice are perinatal lethal, exhibit respiratory failure upon caesarean delivery, and exhibit bradykinesia, abnormal spine curvature, and genitourinary abnormalities. GO:0000278;mitotic cell cycle;IMP|GO:0000291;nuclear-transcribed mRNA catabolic process, exonucleolytic;IMP|GO:0006364;rRNA processing;IBA|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010587;miRNA catabolic process;IDA|GO:0019827;stem cell population maintenance;ISS|GO:0034427;nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5';IEA|GO:0051301;cell division;IEA|GO:0051306;mitotic sister chromatid separation;IMP|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:1990074;polyuridylation-dependent mRNA catabolic process;ISS GO:0000178;exosome (RNase complex);IBA|GO:0000932;P-body;IDA|GO:0005737;cytoplasm;IDA|GO:0005844;polysome;TAS GO:0000175;3'-5'-exoribonuclease activity;IDA|GO:0000287;magnesium ion binding;IDA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004540;ribonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DIS3L2 https://www.uniprot.org/uniprot/Q8IYB7 https://hpo.jax.org/app/browse/search?q=DIS3L2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614184 http://www.informatics.jax.org/searchtool/Search.do?query=DIS3L2&submit=Quick%0D%8618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIS3L2 rs77022290 0.0776757 0 0 1 0 0 intergenic intergenic intergenic DIS3L2(dist=25210),ALPP(dist=9356) DIS3L2(dist=25210),ALPP(dist=9460) ENSG00000230122(dist=17869),ENSG00000163283(dist=9356) Na Na Na Na Na Na Het;C>T 117;1|5 Ref Hom;C>T 145;0|6 N N - 2 234055276 234055276 A G snp intronic INPP5D Inpp5d ENSG00000281614 inositol polyphosphate-5-phosphatase D chr2:233924677-234116549 This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Tobacco Use Disorder Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration anddefective cytolysis by NK cells and CTLs. Interleukin receptor SHC signaling GO:0002376;immune system process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA GO:0004445;inositol-polyphosphate 5-phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/INPP5D https://www.ncbi.nlm.nih.gov/omim/?term=601582 http://www.informatics.jax.org/searchtool/Search.do?query=INPP5D&submit=Quick%0D%22319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5D rs36181881 0.754393 0 0 1 0 0 intronic intronic intronic INPP5D INPP5D ENSG00000168918 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 377;0|9 N N - 2 234055278 234055278 A G snp intronic INPP5D Inpp5d ENSG00000281614 inositol polyphosphate-5-phosphatase D chr2:233924677-234116549 This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Tobacco Use Disorder Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration anddefective cytolysis by NK cells and CTLs. Interleukin receptor SHC signaling GO:0002376;immune system process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA GO:0004445;inositol-polyphosphate 5-phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/INPP5D https://www.ncbi.nlm.nih.gov/omim/?term=601582 http://www.informatics.jax.org/searchtool/Search.do?query=INPP5D&submit=Quick%0D%22319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5D rs149355571 0.234225 0 0 1 0 0 intronic intronic intronic INPP5D INPP5D ENSG00000168918 Na Na Na Na Na Na Het;A>G 92;2|3 Ref Hom;A>G 377;0|9 N N - 2 234628529 234628529 T C snp intronic UGT1A10 Ugt1a9 ENSG00000242515 UDP glucuronosyltransferase family 1 member A10 chr2:234545100-234681951 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008] orolaryngeal cancer; orolaryngeal carcinoma; liver cancer; Tobacco Use Disorder; tamoxifen metabolites; longevity; Type 2 Diabetes| edema | rosiglitazone; Hearing Loss; null; Adenomatous Polyposis Coli|Duodenal Neoplasms; Chronic renal failure|Kidney Failure, Chronic; irinotecan pharmacokinetics Glucuronidation GO:0008152;metabolic process;IEA|GO:0051552;flavone metabolic process;IDA|GO:0052695;cellular glucuronidation;TAS|GO:0052697;xenobiotic glucuronidation;IBA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0005080;protein kinase C binding;IDA|GO:0015020;glucuronosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/UGT1A10 https://www.ncbi.nlm.nih.gov/omim/?term=606435 http://www.informatics.jax.org/searchtool/Search.do?query=UGT1A10&submit=Quick%0D%19731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT1A10 rs871514 0.572085 0 0 1 0 0 intronic intronic intronic UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 ENSG00000167165,ENSG00000240224,ENSG00000241119,ENSG00000241635,ENSG00000242515,ENSG00000244122,ENSG00000244474 Na Na Na Na Na Na Het;T>C 168;3|6 Ref Hom;T>C 118;0|4 N N - 2 235834794 235834794 C CAGAT indel intergenic ARL4C Arl4c ENSG00000188042 ADP ribosylation factor like GTPase 4C chr2:235401685-235405697 ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0032456;endocytic recycling;IDA GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030175;filopodium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0043014;alpha-tubulin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARL4C https://www.ncbi.nlm.nih.gov/omim/?term=604787 http://www.informatics.jax.org/searchtool/Search.do?query=ARL4C&submit=Quick%0D%15955ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL4C rs200271442 0 0 0 1 0 0 intergenic intergenic intergenic ARL4C(dist=429097),SH3BP4(dist=25834) AF279775(dist=37348),SH3BP4(dist=25834) ENSG00000235726(dist=12766),ENSG00000130147(dist=25823) Na Na Na Na Na Na Het;+AGAT 368;1|10 Het;+AGAT 197;2|7 Hom;+AGAT 882;0|21 N N - 2 236957521 236957521 C T snp intronic AGAP1 Agap1 ENSG00000157985 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 chr2:236402733-237040444 This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Schizophrenia; Body Mass Index; autism; Hemoglobins; Arteries; Metabolism GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0005543;phospholipid binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP1 https://www.ncbi.nlm.nih.gov/omim/?term=608651 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP1&submit=Quick%0D%10152ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP1 rs76665383 0.101238 0 0 1 0 0 intronic intronic intronic AGAP1 AGAP1 ENSG00000157985 Na Na Na Na Na Na Het;C>T 73;3|3 Ref Hom;C>T 126;0|4 N N - 2 237416255 237416255 T TC indel upstream IQCA1 Iqca ENSG00000132321 IQ motif containing with AAA domain 1 chr2:237232794-237416185 The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IQCA1 https://www.uniprot.org/uniprot/Q86XH1 http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1 Na 0 0 0 1 0 0 upstream upstream upstream IQCA1 IQCA1 ENSG00000132321 Na Na Na Na Na Na Het;+C 102;13|7 Ref Hom;+C 132;0|6 N N - 2 237690418 237690418 C A snp intergenic ACKR3 Ackr3 ENSG00000144476 atypical chemokine receptor 3 chr2:237476430-237491001 This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008] Platelet Count; HIV Most homozygous null mutations result in perinatal lethality with cardiac defects including semilunar valve defects. G alpha (i) signalling events GO:0001525;angiogenesis;IEA|GO:0001570;vasculogenesis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031623;receptor internalization;IMP|GO:0070098;chemokine-mediated signaling pathway;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1905322;positive regulation of mesenchymal stem cell migration;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055037;recycling endosome;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005044;scavenger receptor activity;IMP|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;IEA|GO:0016494;C-X-C chemokine receptor activity;IMP|GO:0019956;chemokine binding;IEA|GO:0019958;C-X-C chemokine binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ACKR3 https://www.uniprot.org/uniprot/P25106 https://www.ncbi.nlm.nih.gov/omim/?term=610376 http://www.informatics.jax.org/searchtool/Search.do?query=ACKR3&submit=Quick%0D%8612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACKR3 rs999031 0.69369 0 0 1 0 0 intergenic intergenic intergenic ACKR3(dist=199424),COPS8(dist=303666) CXCR7(dist=199424),AK056246(dist=277659) ENSG00000232328(dist=27412),ENSG00000202341(dist=233429) Na Na Na Na Na Na Het;C>A 64;6|4 Ref Hom;C>A 92;0|4 N N - 2 239186719 239186719 T TTCTCTCTG indel intronic PER2 Per2 ENSG00000132326 period circadian clock 2 chr2:239152679-239198743 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014] depression; obesity; prostate cancer; Chronobiology Disorders; Sleep Disorders; bipolar disorder; metabolic syndrome; Autism; cocaine abuse; Alcoholism; diurnal preference; schizophrenia | bipolar disorder; Alcoholism|Sleep Disorders; Type 2 Diabetes| edema | rosiglitazone Homozygous null mutants have a partially functional circadian clock, exhibiting a short circadian period followed by loss of circadian rhythmicity in constant darkness. Mutants are also deficient in DNA damage responses and show increased sensitivity togamma radiation and tumor development. Circadian Clock GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002931;response to ischemia;ISS|GO:0005978;glycogen biosynthetic process;ISS|GO:0006094;gluconeogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;ISS|GO:0007623;circadian rhythm;TAS|GO:0019229;regulation of vasoconstriction;ISS|GO:0019249;lactate biosynthetic process;ISS|GO:0031397;negative regulation of protein ubiquitination;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0042752;regulation of circadian rhythm;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048511;rhythmic process;IEA|GO:0050767;regulation of neurogenesis;ISS|GO:0050796;regulation of insulin secretion;ISS|GO:0050872;white fat cell differentiation;ISS|GO:0051726;regulation of cell cycle;ISS|GO:0051946;regulation of glutamate uptake involved in transmission of nerve impulse;ISS|GO:0070345;negative regulation of fat cell proliferation;ISS|GO:0070932;histone H3 deacetylation;ISS|GO:0097167;circadian regulation of translation;ISS|GO:2000678;negative regulation of transcription regulatory region DNA binding;ISS GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0003713;transcription coactivator activity;ISS|GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PER2 https://www.uniprot.org/uniprot/O15055 https://hpo.jax.org/app/browse/search?q=PER2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603426 http://www.informatics.jax.org/searchtool/Search.do?query=PER2&submit=Quick%0D%6651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PER2 rs113248896 0.442093 0 0 1 0 0 intronic intronic intronic PER2 PER2 ENSG00000132326 Na Na Na Na Na Na Het;+TCTCTCTG 121;1|4 Het;+TCTCTCTG 59;2|3 Hom;+TCTCTCTG 54;0|2 N N - 2 23926659 23926659 T C snp synonymous SNV T2370C A790A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral KLHL29 Klhl29 ENSG00000119771 kelch like family member 29 chr2:23608088-23931481 Cholesterol, HDL; Body Weight Changes; Body Mass Index; Tobacco Use Disorder; Interleukin-6; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Cholesterol, LDL; Lipoproteins, VLDL GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KLHL29 https://www.uniprot.org/uniprot/Q96CT2 http://www.informatics.jax.org/searchtool/Search.do?query=KLHL29&submit=Quick%0D%5115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL29 rs3795948 0.552915 0.4619 0.5136 1 0 0 exonic exonic exonic KLHL29 KLHL29 ENSG00000119771 synonymous SNV synonymous SNV unknown KLHL29:NM_052920:exon13:c.T2370C:p.A790A, KLHL29:uc010ykg.2:exon13:c.T2370C:p.A790A, UNKNOWN Het;T>C 1409;70|65 Het;T>C 1295;64|61 Hom;T>C 3686;0|135 N N - 2 239514379 239514379 A T snp intergenic LINC01107 rs1397327 0.176717 0 0 1 0 0 intergenic intergenic intergenic LINC01107(dist=50239),TWIST2(dist=242294) LOC151171(dist=50239),U4(dist=197142) ENSG00000225493(dist=50684),ENSG00000234279(dist=114586) Na Na Na Na Na Na Het;A>T 83;5|3 Ref Hom;A>T 287;0|7 N N - 2 23973799 23973799 T C snp UTR3 *1117A>G ATAD2B Atad2b ENSG00000119778 ATPase family, AAA domain containing 2B chr2:23971534-24149984 The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. GO:0031936;negative regulation of chromatin silencing;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IBA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IBA|GO:0070577;lysine-acetylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATAD2B https://www.uniprot.org/uniprot/Q9ULI0 https://www.ncbi.nlm.nih.gov/omim/?term=615347 http://www.informatics.jax.org/searchtool/Search.do?query=ATAD2B&submit=Quick%0D%5118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATAD2B rs6751857 0.503195 0 0 1 0 0 UTR3 UTR3 UTR3 ATAD2B(NM_017552:c.*1117A>G,NM_001242338:c.*1117A>G) ATAD2B(uc002rej.4:c.*1117A>G,uc002rei.4:c.*1117A>G,uc002rek.4:c.*1117A>G) ENSG00000119778(ENST00000238789:c.*1117A>G,ENST00000381024:c.*1117A>G) Na Na Na Na Na Na Het;T>C 618;46|23 Het;T>C 1329;76|58 Hom;T>C 3458;0|122 2_262.744_264.744 Chr2:240012757-240788751 0.082 2 240413956 240413956 T G snp intergenic HDAC4 Hdac4 ENSG00000068024 histone deacetylase 4 chr2:239969864-240323348 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] Schizophrenia; Carotid artery stenosis|Carotid Stenosis; Body Weight; Triglycerides; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. RUNX3 regulates p14-ARF GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0002076;osteoblast development;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0010832;negative regulation of myotube differentiation;IMP|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;TAS|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030183;B cell differentiation;TAS|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042113;B cell activation;TAS|GO:0042493;response to drug;IEA|GO:0043393;regulation of protein binding;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048742;regulation of skeletal muscle fiber development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051153;regulation of striated muscle cell differentiation;IEA|GO:0070555;response to interleukin-1;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031672;A band;IEA|GO:0042641;actomyosin;IEA|GO:0043234;protein complex;IEA GO:0001025;RNA polymerase III transcription factor binding;IPI|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0030955;potassium ion binding;IDA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HDAC4 https://www.uniprot.org/uniprot/P56524 https://hpo.jax.org/app/browse/search?q=HDAC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605314 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC4&submit=Quick%0D%1272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC4 rs1531969 0.641773 0 0 1 0 0 intergenic intergenic intergenic HDAC4(dist=91313),LOC150935(dist=270598) HDAC4(dist=90610),BC132948(dist=86039) ENSG00000222020(dist=89898),ENSG00000196758(dist=86039) Na Na Na Na Na Na Het;T>G 51;1|3 Ref Hom;T>G 162;0|7 2_262.744_264.744 Chr2:240012757-240788751 0.082 2 240423994 240423994 C T snp intergenic HDAC4 Hdac4 ENSG00000068024 histone deacetylase 4 chr2:239969864-240323348 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] Schizophrenia; Carotid artery stenosis|Carotid Stenosis; Body Weight; Triglycerides; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. RUNX3 regulates p14-ARF GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0002076;osteoblast development;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0010832;negative regulation of myotube differentiation;IMP|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;TAS|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030183;B cell differentiation;TAS|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042113;B cell activation;TAS|GO:0042493;response to drug;IEA|GO:0043393;regulation of protein binding;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048742;regulation of skeletal muscle fiber development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051153;regulation of striated muscle cell differentiation;IEA|GO:0070555;response to interleukin-1;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031672;A band;IEA|GO:0042641;actomyosin;IEA|GO:0043234;protein complex;IEA GO:0001025;RNA polymerase III transcription factor binding;IPI|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0030955;potassium ion binding;IDA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HDAC4 https://www.uniprot.org/uniprot/P56524 https://hpo.jax.org/app/browse/search?q=HDAC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605314 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC4&submit=Quick%0D%1272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC4 rs1564973 0.555511 0 0 1 0 0 intergenic intergenic intergenic HDAC4(dist=101351),LOC150935(dist=260560) HDAC4(dist=100648),BC132948(dist=76001) ENSG00000222020(dist=99936),ENSG00000196758(dist=76001) Na Na Na Na Na Na Het;C>T 558;16|27 Het;C>T 428;20|19 Hom;C>T 1151;0|40 2_262.744_264.744 Chr2:240012757-240788751 0.082 2 240456802 240456802 T C snp intergenic HDAC4 Hdac4 ENSG00000068024 histone deacetylase 4 chr2:239969864-240323348 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] Schizophrenia; Carotid artery stenosis|Carotid Stenosis; Body Weight; Triglycerides; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. RUNX3 regulates p14-ARF GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0002076;osteoblast development;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0010832;negative regulation of myotube differentiation;IMP|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;TAS|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030183;B cell differentiation;TAS|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042113;B cell activation;TAS|GO:0042493;response to drug;IEA|GO:0043393;regulation of protein binding;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048742;regulation of skeletal muscle fiber development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051153;regulation of striated muscle cell differentiation;IEA|GO:0070555;response to interleukin-1;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031672;A band;IEA|GO:0042641;actomyosin;IEA|GO:0043234;protein complex;IEA GO:0001025;RNA polymerase III transcription factor binding;IPI|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0030955;potassium ion binding;IDA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HDAC4 https://www.uniprot.org/uniprot/P56524 https://hpo.jax.org/app/browse/search?q=HDAC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605314 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC4&submit=Quick%0D%1272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC4 rs4852087 0.321286 0 0 1 0 0 intergenic intergenic intergenic HDAC4(dist=134159),LOC150935(dist=227752) HDAC4(dist=133456),BC132948(dist=43193) ENSG00000222020(dist=132744),ENSG00000196758(dist=43193) Na Na Na Na Na Na Het;T>C 50;1|3 Ref Hom;T>C 71;0|4 2_262.744_264.744 Chr2:240012757-240788751 0.082 2 240473961 240473961 A G snp intergenic HDAC4 Hdac4 ENSG00000068024 histone deacetylase 4 chr2:239969864-240323348 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] Schizophrenia; Carotid artery stenosis|Carotid Stenosis; Body Weight; Triglycerides; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. RUNX3 regulates p14-ARF GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0002076;osteoblast development;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0010832;negative regulation of myotube differentiation;IMP|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;TAS|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030183;B cell differentiation;TAS|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042113;B cell activation;TAS|GO:0042493;response to drug;IEA|GO:0043393;regulation of protein binding;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048742;regulation of skeletal muscle fiber development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051153;regulation of striated muscle cell differentiation;IEA|GO:0070555;response to interleukin-1;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031672;A band;IEA|GO:0042641;actomyosin;IEA|GO:0043234;protein complex;IEA GO:0001025;RNA polymerase III transcription factor binding;IPI|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0030955;potassium ion binding;IDA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HDAC4 https://www.uniprot.org/uniprot/P56524 https://hpo.jax.org/app/browse/search?q=HDAC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605314 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC4&submit=Quick%0D%1272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC4 rs10177901 0.19389 0 0 1 0 0 intergenic intergenic intergenic HDAC4(dist=151318),LOC150935(dist=210593) HDAC4(dist=150615),BC132948(dist=26034) ENSG00000222020(dist=149903),ENSG00000196758(dist=26034) Na Na Na Na Na Na Het;A>G 601;18|22 Het;A>G 518;20|20 Hom;A>G 895;1|30 N N - 2 240785 240785 G A snp UTR3 *1398C>T SH3YL1 Sh3yl1 ENSG00000035115 SH3 and SYLF domain containing 1 chr2:217730-266398 Neuroblastoma GO:0006661;phosphatidylinositol biosynthetic process;IEA|GO:1900027;regulation of ruffle assembly;IBA GO:0032587;ruffle membrane;IDA GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA|GO:0035091;phosphatidylinositol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SH3YL1 https://www.uniprot.org/uniprot/Q96HL8 https://www.ncbi.nlm.nih.gov/omim/?term=617314 http://www.informatics.jax.org/searchtool/Search.do?query=SH3YL1&submit=Quick%0D%768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3YL1 rs300705 0.299121 0 0 1 0 0 intronic intronic UTR3 SH3YL1 SH3YL1 ENSG00000035115(ENST00000402632:c.*1398C>T) Na Na Na Na Na Na Het;G>A 2218;95|94 Het;G>A 1824;81|86 Hom;G>A 5787;0|213 N N - 2 240898578 240898578 C T snp UTR3 *1957G>A NDUFA10 Ndufa10 ENSG00000281434 NADH:ubiquinone oxidoreductase subunit A10 chr2:240831867-240964819 The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10 https://www.uniprot.org/uniprot/O95299 https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603835 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10 rs4854069 0.508387 0 0 1 0 0 UTR3 UTR3 UTR3 NDUFA10(NM_004544:c.*1957G>A) NDUFA10(uc002vyn.3:c.*1957G>A) ENSG00000130414(ENST00000252711:c.*1957G>A) Na Na Na Na Na Na Het;C>T 2430;108|111 Het;C>T 782;91|43 Hom;C>T 4463;0|166 N N - 2 240953500 240953500 C CA indel UTR3 *614G>TG NDUFA10 Ndufa10 ENSG00000281434 NADH:ubiquinone oxidoreductase subunit A10 chr2:240831867-240964819 The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10 https://www.uniprot.org/uniprot/O95299 https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603835 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10 rs35758918 0.363219 0 0 1 0 0 intronic UTR3 intronic NDUFA10 NDUFA10(uc002vyo.2:c.*614G>TG) ENSG00000130414 Na Na Na Na Na Na Het;+A 870;34|50 Het;+A 847;33|48 Hom;+A 1694;5|75 N N - 2 240958129 240958129 C T snp intronic NDUFA10 Ndufa10 ENSG00000281434 NADH:ubiquinone oxidoreductase subunit A10 chr2:240831867-240964819 The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10 https://www.uniprot.org/uniprot/O95299 https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603835 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10 rs4149540 0.683107 0 0 1 0 0 intronic intronic intronic NDUFA10 NDUFA10 ENSG00000130414 Na Na Na Na Na Na Het;C>T 725;26|27 Het;C>T 475;18|22 Hom;C>T 949;0|32 N N - 2 240961728 240961728 T C snp synonymous SNV A105G K35K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NDUFA10 Ndufa10 ENSG00000281434 NADH:ubiquinone oxidoreductase subunit A10 chr2:240831867-240964819 The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10 https://www.uniprot.org/uniprot/O95299 https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603835 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10 rs2083411 0.702476 0.6945 0.6663 1 0 0 exonic exonic exonic NDUFA10 NDUFA10 ENSG00000130414 synonymous SNV synonymous SNV unknown NDUFA10:NM_004544:exon2:c.A105G:p.K35K, NDUFA10:uc002vyo.2:exon2:c.A105G:p.K35K,NDUFA10:uc002vyp.3:exon2:c.A105G:p.K35K,NDUFA10:uc002vyn.3:exon2:c.A105G:p.K35K,NDUFA10:uc010fzc.2:exon2:c.A105G:p.K35K, UNKNOWN Het;T>C 1470;62|59 Het;T>C 1364;70|65 Hom;T>C 3035;0|104 N N - 2 240961852 240961852 A G snp intronic NDUFA10 Ndufa10 ENSG00000281434 NADH:ubiquinone oxidoreductase subunit A10 chr2:240831867-240964819 The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10 https://www.uniprot.org/uniprot/O95299 https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603835 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10 rs7596788 0.763179 0 0 1 0 0 intronic intronic intronic NDUFA10 NDUFA10 ENSG00000130414 Na Na Na Na Na Na Het;A>G 70;5|3 Het;A>G 73;6|4 Hom;A>G 582;0|16 N N - 2 241052822 241052822 T G snp intergenic OR6B3 Olfr1414 ENSG00000178586 olfactory receptor family 6 subfamily B member 3 chr2:240984494-240985489 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR6B3 http://www.informatics.jax.org/searchtool/Search.do?query=OR6B3&submit=Quick%0D%14203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6B3 rs13389043 0.347244 0 0 1 0 0 intergenic intergenic intergenic OR6B3(dist=67333),MYEOV2(dist=13158) OR6B3(dist=67333),MYEOV2(dist=13158) ENSG00000213048(dist=3353),ENSG00000267963(dist=1085) Na Na Na Na Na Na Het;T>G 50;3|4 Het;T>G 96;2|6 Hom;T>G 332;0|13 N N - 2 241078784 241078784 A T snp intronic OTOS Otos ENSG00000178602 otospiralin chr2:241078446-241083979 Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008] Erythrocyte Count; Lipids; Schizophrenia; Triglycerides Homozygous null mice display decreased endocochlear potentials and shrunken type II and IV cochlear fibrocytes. GO:0007605;sensory perception of sound;IEA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOS https://www.ncbi.nlm.nih.gov/omim/?term=607877 http://www.informatics.jax.org/searchtool/Search.do?query=OTOS&submit=Quick%0D%14206ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOS rs2279690 0.344649 0.2509 0.2633 1 0 0 intronic intronic intronic OTOS OTOS ENSG00000178602 Na Na Na Na Na Na Het;A>T 834;28|35 Het;A>T 493;43|25 Hom;A>T 2196;0|78 N N - 2 24110611 24110611 G C snp intronic ATAD2B Atad2b ENSG00000119778 ATPase family, AAA domain containing 2B chr2:23971534-24149984 The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. GO:0031936;negative regulation of chromatin silencing;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IBA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IBA|GO:0070577;lysine-acetylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATAD2B https://www.uniprot.org/uniprot/Q9ULI0 https://www.ncbi.nlm.nih.gov/omim/?term=615347 http://www.informatics.jax.org/searchtool/Search.do?query=ATAD2B&submit=Quick%0D%5118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATAD2B rs17762465 0.515176 0 0 1 0 0 intronic intronic intronic ATAD2B ATAD2B ENSG00000119778 Na Na Na Na Na Na Het;G>C 340;12|13 Het;G>C 277;14|10 Hom;G>C 668;0|20 N N - 2 241403955 241403995 GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT G indel intronic GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs369472922 0.517173 0 0 1 0 0 intronic intronic intronic GPC1 GPC1 ENSG00000063660 Na Na Na Na Na Na Het;-TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT 1281;49|36 Het;-TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT 909;40|27 Hom;-TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT 1905;0|43 N N - 2 241404317 241404317 C T snp synonymous SNV C1059T P353P hydrophobic,neutral hydrophobic,neutral GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs2229458 0.516773 0.6008 0.5749 1 0 0 exonic exonic exonic GPC1 GPC1 ENSG00000063660 synonymous SNV synonymous SNV unknown GPC1:NM_002081:exon6:c.C1059T:p.P353P, GPC1:uc002vyw.4:exon6:c.C1059T:p.P353P, UNKNOWN Het;C>T 1468;61|68 Het;C>T 896;50|41 Hom;C>T 2248;2|84 N N - 2 241404499 241404499 C T snp synonymous SNV C1140T S380S polar,hydrophilic,neutral polar,hydrophilic,neutral GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs2228327 0.247404 0.3076 0.3553 1 0 0 exonic exonic exonic GPC1 GPC1 ENSG00000063660 synonymous SNV synonymous SNV unknown GPC1:NM_002081:exon7:c.C1140T:p.S380S, GPC1:uc002vyw.4:exon7:c.C1140T:p.S380S, UNKNOWN Het;C>T 1042;58|50 Het;C>T 860;39|37 Hom;C>T 2154;0|75 N N - 2 241404758 241404758 G A snp intronic GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs10188712 0.524361 0 0 1 0 0 intronic intronic intronic GPC1 GPC1 ENSG00000063660 Na Na Na Na Na Na Het;G>A 293;12|10 Het;G>A 233;6|8 Hom;G>A 523;0|16 N N - 2 241405400 241405400 C CGTG indel intronic GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs10700206 0.652356 0 0 1 0 0 intronic intronic intronic GPC1 GPC1 ENSG00000063660 Na Na Na Na Na Na Het;+GTG 212;15|7 Het;+GTG 353;10|10 Hom;+GTG 773;0|17 N N - 2 241405454 241405454 G A snp intronic GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs6760745 0.342652 0.3518 0.3772 1 0 0 intronic intronic intronic GPC1 GPC1 ENSG00000063660 Na Na Na Na Na Na Het;G>A 581;33|26 Het;G>A 672;24|27 Hom;G>A 821;0|29 N N - 2 241405528 241405528 A G snp nonsynonymous SNV A1498G S500G polar,hydrophilic,neutral aliphatic,neutral GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs2228331 0.664337 0.7734 0.6642 0.08 1 12 exonic exonic exonic GPC1 GPC1 ENSG00000063660 nonsynonymous SNV nonsynonymous SNV unknown GPC1:NM_002081:exon9:c.A1498G:p.S500G, GPC1:uc002vyw.4:exon9:c.A1498G:p.S500G, UNKNOWN Het;A>G 1431;57|64 Het;A>G 1221;59|61 Hom;A>G 2853;0|103 N N - 2 241463595 241463595 T C snp nonsynonymous SNV A279G I93M aliphatic,hydrophobic,neutral hydrophobic,neutral ANKMY1 Ankmy1 ENSG00000144504 ankyrin repeat and MYND domain containing 1 chr2:241418839-241508626 Platelet Count; Alzheimer's disease ; Tobacco Use Disorder GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1 https://www.uniprot.org/uniprot/Q9P2S6 http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1 rs35996697 0.119409 0.1812 0.1460 0.08 1 13 exonic exonic exonic ANKMY1 ANKMY1 ENSG00000144504 nonsynonymous SNV nonsynonymous SNV unknown ANKMY1:NM_017844:exon6:c.A849G:p.I283M,ANKMY1:NM_001282771:exon8:c.A1539G:p.I513M,ANKMY1:NM_001282780:exon6:c.A849G:p.I283M,ANKMY1:NM_016552:exon7:c.A1272G:p.I424M, ANKMY1:uc010fze.2:exon3:c.A279G:p.I93M,ANKMY1:uc002vza.1:exon6:c.A849G:p.I283M,ANKMY1:uc002vzd.1:exon6:c.A849G:p.I283M,ANKMY1:uc002vzc.1:exon6:c.A849G:p.I283M,ANKMY1:uc002vyz.1:exon7:c.A1272G:p.I424M,ANKMY1:uc010fzd.1:exon8:c.A1539G:p.I513M,ANKMY1:uc002vze.3:exon5:c.A555G:p.I185M, UNKNOWN Het;T>C 3521;138|146 Het;T>C 3007;125|127 Hom;T>C 7511;0|264 N N - 2 241469091 241469091 C T snp intronic ANKMY1 Ankmy1 ENSG00000144504 ankyrin repeat and MYND domain containing 1 chr2:241418839-241508626 Platelet Count; Alzheimer's disease ; Tobacco Use Disorder GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1 https://www.uniprot.org/uniprot/Q9P2S6 http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1 rs72998051 0.0908546 0 0 1 0 0 intronic intronic intronic ANKMY1 ANKMY1 ENSG00000144504 Na Na Na Na Na Na Het;C>T 261;10|12 Het;C>T 118;7|5 Hom;C>T 271;0|8 N N - 2 241496567 241496567 A G snp intronic ANKMY1 Ankmy1 ENSG00000144504 ankyrin repeat and MYND domain containing 1 chr2:241418839-241508626 Platelet Count; Alzheimer's disease ; Tobacco Use Disorder GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1 https://www.uniprot.org/uniprot/Q9P2S6 http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1 rs7609147 0.33746 0.3922 0.3890 1 0 0 intronic intronic intronic ANKMY1 ANKMY1 ENSG00000144504 Na Na Na Na Na Na Het;A>G 1044;58|48 Het;A>G 909;18|38 Hom;A>G 2714;1|100 N N - 2 241496770 241496770 C A snp splicing ANKMY1 Ankmy1 ENSG00000144504 ankyrin repeat and MYND domain containing 1 chr2:241418839-241508626 Platelet Count; Alzheimer's disease ; Tobacco Use Disorder GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1 https://www.uniprot.org/uniprot/Q9P2S6 http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1 rs62621191 0.077476 0.1252 0.1221 0.50 2 4 splicing splicing splicing ANKMY1 ANKMY1 ENSG00000144504(ENST00000403283:exon2:c.221-1G>T) Na Na Na Na Na Na Het;C>A 1688;90|74 Het;C>A 1238;70|59 Hom;C>A 3051;1|116 N N - 2 241512049 241512049 C A snp intronic RNPEPL1 Rnpepl1 ENSG00000142327 arginyl aminopeptidase like 1 chr2:241505221-241520789 bipolar disorder; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; Bipolar Disorder GO:0006508;proteolysis;IEA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNPEPL1 https://www.uniprot.org/uniprot/Q9HAU8 https://www.ncbi.nlm.nih.gov/omim/?term=605287 http://www.informatics.jax.org/searchtool/Search.do?query=RNPEPL1&submit=Quick%0D%8275ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNPEPL1 rs2975769 0.347843 0 0 1 0 0 intronic intronic intronic RNPEPL1 RNPEPL1 ENSG00000142327 Na Na Na Na Na Na Het;C>A 1494;55|66 Het;C>A 712;42|34 Hom;C>A 2557;0|90 N N - 2 241659368 241659368 C A snp intronic KIF1A Kif1a ENSG00000130294 kinesin family member 1A chr2:241653181-241759725 The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis Kinesins GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF1A https://www.uniprot.org/uniprot/Q12756 https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601255 http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A rs6437368 0.820088 0.7690 0.7736 1 0 0 intronic intronic intronic KIF1A KIF1A ENSG00000130294 Na Na Na Na Na Na Het;C>A 575;34|28 Het;C>A 626;19|28 Hom;C>A 1397;0|51 N N - 2 241680633 241680633 G T snp intronic KIF1A Kif1a ENSG00000130294 kinesin family member 1A chr2:241653181-241759725 The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis Kinesins GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF1A https://www.uniprot.org/uniprot/Q12756 https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601255 http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A rs4414678 0.491414 0 0 1 0 0 intronic intronic intronic KIF1A KIF1A ENSG00000130294 Na Na Na Na Na Na Het;G>T 501;22|20 Het;G>T 460;11|17 Hom;G>T 915;0|33 N N - 2 241719610 241719610 A G snp intronic KIF1A Kif1a ENSG00000130294 kinesin family member 1A chr2:241653181-241759725 The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis Kinesins GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF1A https://www.uniprot.org/uniprot/Q12756 https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601255 http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A rs59733750 0.182708 0 0 1 0 0 intronic intronic intronic KIF1A KIF1A ENSG00000130294 Na Na Na Na Na Na Het;A>G 96;1|5 Ref Hom;A>G 58;0|3 N N - 2 241726646 241726646 A G snp intronic KIF1A Kif1a ENSG00000130294 kinesin family member 1A chr2:241653181-241759725 The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] Prostatic Neoplasms; Forced Expiratory Volume; Hemoglobin A, Glycosylated Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis Kinesins GO:0007018;microtubule-based movement;IEA|GO:0008089;anterograde axonal transport;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0030424;axon;IEA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;IBA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF1A https://www.uniprot.org/uniprot/Q12756 https://hpo.jax.org/app/browse/search?q=KIF1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601255 http://www.informatics.jax.org/searchtool/Search.do?query=KIF1A&submit=Quick%0D%6345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF1A rs2288746 0.483227 0.5216 0.4230 1 0 0 intronic intronic intronic KIF1A KIF1A ENSG00000130294 Na Na Na Na Na Na Het;A>G 1000;57|48 Het;A>G 1271;68|65 Hom;A>G 2830;0|101 N N - 2 241815307 241815307 C T snp intronic AGXT Agxt ENSG00000172482 alanine-glyoxylate aminotransferase chr2:241807896-241819919 This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones. Glyoxylate metabolism and glycine degradation GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA http://www.genecards.org/index.php?path=/Search/keyword/AGXT https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604285 http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT rs12478859 0.239816 0.3079 0.3268 1 0 0 intronic intronic intronic AGXT AGXT ENSG00000172482 Na Na Na Na Na Na Het;C>T 2416;85|108 Het;C>T 1462;58|68 Hom;C>T 6411;0|143 N N - 2 242088921 242088921 A C snp intronic PASK Pask ENSG00000115687 PAS domain containing serine/threonine kinase chr2:242045514-242089679 This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Chronic renal failure|Kidney Failure, Chronic Homozygous null mice display resistance to diet-induced obesity, impaired glucose stimulated insulin secretion, abnormal energy balance, and abnormalities in hypoxia induced changes in ventialtion. GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0043576;regulation of respiratory gaseous exchange;ISS|GO:0045719;negative regulation of glycogen biosynthetic process;IDA|GO:0045727;positive regulation of translation;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0070092;regulation of glucagon secretion;ISS|GO:2000505;regulation of energy homeostasis;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035091;phosphatidylinositol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PASK https://www.uniprot.org/uniprot/Q96RG2 https://www.ncbi.nlm.nih.gov/omim/?term=607505 http://www.informatics.jax.org/searchtool/Search.do?query=PASK&submit=Quick%0D%4647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PASK rs3806599 0.792931 0 0 1 0 0 intronic intronic intronic PASK PASK ENSG00000115687 Na Na Na Na Na Na Het;A>C 156;4|5 Het;A>C 42;2|2 Hom;A>C 186;0|5 N N - 2 242135017 242135017 A C snp intronic ANO7 Ano7 ENSG00000146205 anoctamin 7 chr2:242127924-242164792 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO7 https://www.uniprot.org/uniprot/Q6IWH7 https://www.ncbi.nlm.nih.gov/omim/?term=605096 http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7 rs12694996 0.689696 0 0 1 0 0 intronic intronic intronic ANO7 ANO7 ENSG00000146205 Na Na Na Na Na Na Het;A>C 349;9|11 Het;A>C 362;7|12 Hom;A>C 337;0|9 N N - 2 242139491 242139491 C T snp intronic ANO7 Ano7 ENSG00000146205 anoctamin 7 chr2:242127924-242164792 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO7 https://www.uniprot.org/uniprot/Q6IWH7 https://www.ncbi.nlm.nih.gov/omim/?term=605096 http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7 rs2013250 0.535743 0.7492 0.6656 1 0 0 intronic intronic intronic ANO7 ANO7 ENSG00000146205 Na Na Na Na Na Na Het;C>T 833;31|35 Het;C>T 617;24|26 Hom;C>T 1554;0|56 N N - 2 242141719 242141719 C T snp synonymous SNV C885T D295D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ANO7 Ano7 ENSG00000146205 anoctamin 7 chr2:242127924-242164792 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO7 https://www.uniprot.org/uniprot/Q6IWH7 https://www.ncbi.nlm.nih.gov/omim/?term=605096 http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7 rs2074840 0.414736 0.6351 0.5546 1 0 0 exonic exonic exonic ANO7 ANO7 ENSG00000146205 synonymous SNV synonymous SNV unknown ANO7:NM_001001891:exon8:c.C885T:p.D295D, ANO7:uc002wax.2:exon8:c.C885T:p.D295D, UNKNOWN Het;C>T 1481;88|74 Het;C>T 1713;60|78 Hom;C>T 2906;0|114 N N - 2 242157927 242157927 G A snp intronic ANO7 Ano7 ENSG00000146205 anoctamin 7 chr2:242127924-242164792 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006821;chloride transport;IDA|GO:0006869;lipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0061588;calcium activated phospholipid scrambling;IEA|GO:0061589;calcium activated phosphatidylserine scrambling;IEA|GO:0061590;calcium activated phosphatidylcholine scrambling;IEA|GO:0061591;calcium activated galactosylceramide scrambling;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0017128;phospholipid scramblase activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO7 https://www.uniprot.org/uniprot/Q6IWH7 https://www.ncbi.nlm.nih.gov/omim/?term=605096 http://www.informatics.jax.org/searchtool/Search.do?query=ANO7&submit=Quick%0D%8848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO7 rs11692790 0 0 0 1 0 0 intronic intronic intronic ANO7 ANO7 ENSG00000146205 Na Na Na Na Na Na Het;G>A 53;2|4 Ref Hom;G>A 88;0|6 N N - 2 242168976 242168976 T C snp UTR3 *40A>G HDLBP Hdlbp ENSG00000115677 high density lipoprotein binding protein chr2:242166679-242256476 The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels HDL clearance GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDLBP https://www.uniprot.org/uniprot/Q00341 https://www.ncbi.nlm.nih.gov/omim/?term=142695 http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP rs15129 0.368211 0.1912 0.3020 1 0 0 UTR3 UTR3 UTR3 HDLBP(NM_005336:c.*40A>G,NM_001243900:c.*40A>G,NM_203346:c.*40A>G) HDLBP(uc021vzg.1:c.*40A>G,uc002waz.3:c.*40A>G,uc002wba.3:c.*40A>G) ENSG00000115677(ENST00000391975:c.*40A>G,ENST00000310931:c.*40A>G,ENST00000391976:c.*40A>G,ENST00000427183:c.*40A>G,ENST00000373292:c.*40A>G,ENST00000442730:c.*203A>G) Na Na Na Na Na Na Het;T>C 383;22|14 Het;T>C 394;7|18 Hom;T>C 1222;0|45 N N - 2 242176019 242176019 T C snp intronic HDLBP Hdlbp ENSG00000115677 high density lipoprotein binding protein chr2:242166679-242256476 The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels HDL clearance GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDLBP https://www.uniprot.org/uniprot/Q00341 https://www.ncbi.nlm.nih.gov/omim/?term=142695 http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP rs2305073 0.283347 0.3264 0.3015 1 0 0 intronic intronic intronic HDLBP HDLBP ENSG00000115677 Na Na Na Na Na Na Het;T>C 473;35|22 Het;T>C 602;29|28 Hom;T>C 1336;0|49 N N - 2 242206956 242206956 C T snp intronic HDLBP Hdlbp ENSG00000115677 high density lipoprotein binding protein chr2:242166679-242256476 The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels HDL clearance GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDLBP https://www.uniprot.org/uniprot/Q00341 https://www.ncbi.nlm.nih.gov/omim/?term=142695 http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP rs35334418 0.951677 0 0.8799 1 0 0 intronic intronic intronic HDLBP HDLBP ENSG00000115677 Na Na Na Na Na Na Het;C>T 422;20|20 Het;C>T 677;32|30 Hom;C>T 1224;0|45 N N - 2 242212177 242212177 C T snp UTR5 -5893G>A HDLBP Hdlbp ENSG00000115677 high density lipoprotein binding protein chr2:242166679-242256476 The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] Type 2 Diabetes| edema | rosiglitazone; Graves Disease|Graves' Disease; plasma HDL-C levels HDL clearance GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0034384;high-density lipoprotein particle clearance;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0034364;high-density lipoprotein particle;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDLBP https://www.uniprot.org/uniprot/Q00341 https://www.ncbi.nlm.nih.gov/omim/?term=142695 http://www.informatics.jax.org/searchtool/Search.do?query=HDLBP&submit=Quick%0D%4645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDLBP rs2305077 0.198882 0 0 1 0 0 UTR5 UTR5 UTR5 HDLBP(NM_001243900:c.-5114G>A,NM_203346:c.-5893G>A) HDLBP(uc021vzg.1:c.-5114G>A,uc002waz.3:c.-5893G>A) ENSG00000115677(ENST00000391975:c.-5893G>A,ENST00000427183:c.-5114G>A,ENST00000452065:c.-5893G>A,ENST00000426343:c.-5893G>A,ENST00000449864:c.-8205G>A,ENST00000422080:c.-5893G>A,ENST00000458564:c.-5893G>A,ENST00000427007:c.-5893G>A,ENST00000449504:c.-5893G>A) Na Na Na Na Na Na Het;C>T 32;3|2 Ref Hom;C>T 99;0|4 N N - 2 242263803 242263805 CTT C indel intronic SEPT2 Sept2 rs148452385 0.785942 0 0.5077 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;-TT 125;4|7 Het;-TT 161;4|8 Hom;-TT 245;1|8 N N - 2 242265273 242265273 C T snp intronic SEPT2 Sept2 rs4234100 0.574481 0 0 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;C>T 40;3|2 Ref Hom;C>T 138;0|4 N N - 2 242274489 242274489 G C snp intronic SEPT2 Sept2 rs56390510 0.216054 0.1615 0 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;G>C 110;8|5 Het;G>C 172;2|10 Hom;G>C 430;0|15 N N - 2 242283071 242283071 C T snp intronic SEPT2 Sept2 rs6750169 0.765575 0 0 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;C>T 190;7|8 Het;C>T 270;10|11 Hom;C>T 401;0|13 N N - 2 242283094 242283094 A G snp intronic SEPT2 Sept2 rs6707518 0.706869 0 0 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;A>G 337;11|11 Het;A>G 498;14|18 Hom;A>G 816;0|24 N N - 2 242287487 242287487 T G snp intronic SEPT2 Sept2 rs12619647 0.397764 0.0819 0 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;T>G 350;26|18 Het;T>G 581;18|21 Hom;T>G 900;0|34 N N - 2 242289663 242289663 C CATT indel intronic SEPT2 Sept2 rs3217007 0.767572 0 0 1 0 0 intronic intronic intronic SEPT2 SEPT2 ENSG00000168385 Na Na Na Na Na Na Het;+ATT 1482;60|41 Het;+ATT 1375;36|38 Hom;+ATT 3971;0|92 N N - 2 242371245 242371245 A T snp intronic FARP2 Farp2 ENSG00000006607 FERM, ARH/RhoGEF and pleckstrin domain protein 2 chr2:242295658-242434256 Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARP2 https://www.uniprot.org/uniprot/O94887 http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2 rs148538153 0.0706869 0 0 1 0 0 intronic intronic intronic FARP2 FARP2 ENSG00000006607 Na Na Na Na Na Na Het;A>T 412;7|17 Het;A>T 137;8|8 Hom;A>T 453;2|20 N N - 2 242374238 242374238 G A snp intronic FARP2 Farp2 ENSG00000006607 FERM, ARH/RhoGEF and pleckstrin domain protein 2 chr2:242295658-242434256 Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARP2 https://www.uniprot.org/uniprot/O94887 http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2 rs56352948 0.210663 0 0 1 0 0 intronic intronic intronic FARP2 FARP2 ENSG00000006607 Na Na Na Na Na Na Het;G>A 103;4|4 Ref Hom;G>A 235;0|7 N N - 2 242374358 242374358 T C snp intronic FARP2 Farp2 ENSG00000006607 FERM, ARH/RhoGEF and pleckstrin domain protein 2 chr2:242295658-242434256 Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARP2 https://www.uniprot.org/uniprot/O94887 http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2 rs16843671 0.210663 0.1569 0.2007 1 0 0 intronic intronic intronic FARP2 FARP2 ENSG00000006607 Na Na Na Na Na Na Het;T>C 995;40|48 Het;T>C 1001;40|45 Hom;T>C 1785;0|67 N N - 2 242405021 242405021 C T snp UTR3 *96C>T FARP2 Farp2 ENSG00000006607 FERM, ARH/RhoGEF and pleckstrin domain protein 2 chr2:242295658-242434256 Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARP2 https://www.uniprot.org/uniprot/O94887 http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2 rs2240482 0.228035 0 0 1 0 0 UTR3 UTR3 UTR3 FARP2(NM_001282983:c.*96C>T) FARP2(uc010zor.2:c.*96C>T) ENSG00000006607(ENST00000373287:c.*96C>T) Na Na Na Na Na Na Het;C>T 1433;47|62 Het;C>T 597;37|30 Hom;C>T 1901;0|71 N N - 2 242415523 242415523 C T snp intronic FARP2 Farp2 ENSG00000006607 FERM, ARH/RhoGEF and pleckstrin domain protein 2 chr2:242295658-242434256 Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; Chromosome Aberrations|Chromosome abnormality|Lymphocytosis; Chronic lymphocytic leukemia; Alcoholism Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion GO:0007155;cell adhesion;IEA|GO:0016322;neuron remodeling;IDA|GO:0016601;Rac protein signal transduction;IDA|GO:0022405;hair cycle process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0033623;regulation of integrin activation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:0071800;podosome assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARP2 https://www.uniprot.org/uniprot/O94887 http://www.informatics.jax.org/searchtool/Search.do?query=FARP2&submit=Quick%0D%408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP2 rs73006397 0.228235 0 0 1 0 0 intronic intronic intronic FARP2 FARP2 ENSG00000006607 Na Na Na Na Na Na Het;C>T 56;7|3 Het;C>T 33;2|2 Hom;C>T 160;0|5 N N - 2 242433348 242433348 A G snp UTR3 *1729T>C STK25 Stk25 ENSG00000115694 serine/threonine kinase 25 chr2:242432089-242449145 This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration. GO:0006468;protein phosphorylation;IDA|GO:0006979;response to oxidative stress;TAS|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0036481;intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IGI|GO:0042542;response to hydrogen peroxide;IDA|GO:0045595;regulation of cell differentiation;IBA|GO:0046777;protein autophosphorylation;IDA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IDA|GO:0051683;establishment of Golgi localization;IMP|GO:0090168;Golgi reassembly;IMP GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK25 https://www.uniprot.org/uniprot/O00506 https://www.ncbi.nlm.nih.gov/omim/?term=602255 http://www.informatics.jax.org/searchtool/Search.do?query=STK25&submit=Quick%0D%4648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK25 rs2018761 0.816693 0 0 1 0 0 intronic intronic UTR3 FARP2 FARP2 ENSG00000115694(ENST00000316586:c.*1729T>C) Na Na Na Na Na Na Het;A>G 195;9|8 Het;A>G 296;9|12 Hom;A>G 669;2|27 N N - 2 242435658 242435662 CAAGG C indel UTR3 *2563_*2559delinsG STK25 Stk25 ENSG00000115694 serine/threonine kinase 25 chr2:242432089-242449145 This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration. GO:0006468;protein phosphorylation;IDA|GO:0006979;response to oxidative stress;TAS|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0036481;intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IGI|GO:0042542;response to hydrogen peroxide;IDA|GO:0045595;regulation of cell differentiation;IBA|GO:0046777;protein autophosphorylation;IDA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IDA|GO:0051683;establishment of Golgi localization;IMP|GO:0090168;Golgi reassembly;IMP GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK25 https://www.uniprot.org/uniprot/O00506 https://www.ncbi.nlm.nih.gov/omim/?term=602255 http://www.informatics.jax.org/searchtool/Search.do?query=STK25&submit=Quick%0D%4648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK25 rs3215138 0.228035 0 0 1 0 0 intronic UTR3 intronic STK25 STK25(uc002wbl.3:c.*2563_*2559delinsG) ENSG00000115694 Na Na Na Na Na Na Het;-AAGG 179;12|6 Het;-AAGG 68;7|3 Hom;-AAGG 323;0|8 N N - 2 242439988 242439988 A G snp intronic STK25 Stk25 ENSG00000115694 serine/threonine kinase 25 chr2:242432089-242449145 This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration. GO:0006468;protein phosphorylation;IDA|GO:0006979;response to oxidative stress;TAS|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007165;signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0036481;intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IGI|GO:0042542;response to hydrogen peroxide;IDA|GO:0045595;regulation of cell differentiation;IBA|GO:0046777;protein autophosphorylation;IDA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0051645;Golgi localization;IDA|GO:0051683;establishment of Golgi localization;IMP|GO:0090168;Golgi reassembly;IMP GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK25 https://www.uniprot.org/uniprot/O00506 https://www.ncbi.nlm.nih.gov/omim/?term=602255 http://www.informatics.jax.org/searchtool/Search.do?query=STK25&submit=Quick%0D%4648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK25 rs34506685 0.274161 0 0 1 0 0 intronic intronic intronic STK25 STK25 ENSG00000115694 Na Na Na Na Na Na Het;A>G 144;11|6 Het;A>G 84;3|5 Hom;A>G 279;0|11 N N - 2 242610773 242610773 T A snp nonsynonymous SNV T839A L280Q aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ATG4B Atg4b ENSG00000168397 autophagy related 4B cysteine peptidase chr2:242576628-242613272 Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning. Macroautophagy GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG4B https://www.ncbi.nlm.nih.gov/omim/?term=611338 http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B rs7601000 0.879393 0.8346 0.8153 0.08 1 13 exonic exonic exonic ATG4B ATG4B ENSG00000168397 nonsynonymous SNV nonsynonymous SNV unknown ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q, ATG4B:uc010zoz.2:exon9:c.T839A:p.L280Q,ATG4B:uc002wbu.3:exon13:c.T839A:p.L280Q,ATG4B:uc002wbw.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zoy.2:exon13:c.T839A:p.L280Q,ATG4B:uc002wbv.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010fzp.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zox.2:exon13:c.T1019A:p.L340Q, UNKNOWN Het;T>A 2653;112|119 Het;T>A 2330;106|106 Hom;T>A 5568;0|207 N N - 2 242615462 242615462 T C snp UTR3 *80A>G DTYMK Dtymk ENSG00000168393 deoxythymidylate kinase chr2:242615157-242626406 Interconversion of nucleotide di- and triphosphates GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/DTYMK https://www.ncbi.nlm.nih.gov/omim/?term=188345 http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK rs5860 0.544728 0 0 1 0 0 UTR3 UTR3 UTR3 DTYMK(NM_012145:c.*80A>G,NM_001165031:c.*80A>G) AK126180(uc002wcb.2:c.*1237A>G),DTYMK(uc010zpa.2:c.*80A>G,uc002wbz.2:c.*80A>G) ENSG00000168393(ENST00000305784:c.*80A>G,ENST00000400770:c.*376A>G) Na Na Na Na Na Na Het;T>C 2098;103|95 Het;T>C 3314;117|93 Hom;T>C 7129;1|198 N N - 2 242617792 242617792 A G snp intronic DTYMK Dtymk ENSG00000168393 deoxythymidylate kinase chr2:242615157-242626406 Interconversion of nucleotide di- and triphosphates GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/DTYMK https://www.ncbi.nlm.nih.gov/omim/?term=188345 http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK rs4076640 0.544529 0 0 1 0 0 intronic intronic intronic DTYMK DTYMK ENSG00000168393 Na Na Na Na Na Na Het;A>G 197;5|7 Het;A>G 57;5|3 Hom;A>G 388;0|12 N N - 2 242625413 242625413 A T snp intronic DTYMK Dtymk ENSG00000168393 deoxythymidylate kinase chr2:242615157-242626406 Interconversion of nucleotide di- and triphosphates GO:0006227;dUDP biosynthetic process;IBA|GO:0006233;dTDP biosynthetic process;IEA|GO:0006235;dTTP biosynthetic process;IEA|GO:0007049;cell cycle;TAS|GO:0008283;cell proliferation;TAS|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0043627;response to estrogen;IEA|GO:0045445;myoblast differentiation;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046939;nucleotide phosphorylation;IEA|GO:0046940;nucleoside monophosphate phosphorylation;IEA|GO:0071363;cellular response to growth factor stimulus;IEA GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005758;mitochondrial intermembrane space;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004798;thymidylate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0009041;uridylate kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050145;nucleoside phosphate kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/DTYMK https://www.ncbi.nlm.nih.gov/omim/?term=188345 http://www.informatics.jax.org/searchtool/Search.do?query=DTYMK&submit=Quick%0D%12257ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DTYMK rs62191287 0.340655 0 0 1 0 0 intronic intronic intronic DTYMK DTYMK ENSG00000168393 Na Na Na Na Na Na Het;A>T 324;11|12 Het;A>T 118;9|6 Hom;A>T 416;0|14 N N - 2 242630048 242630048 G A snp ncRNA_exonic ENSG00000228989 rs7573214 0.608027 0 0 1 0 0 intergenic intergenic ncRNA_exonic DTYMK(dist=3665),ING5(dist=11408) DTYMK(dist=3665),ING5(dist=11408) ENSG00000228989 Na Na Na Na Na Na Het;G>A 1260;75|58 Het;G>A 850;62|42 Hom;G>A 3555;0|133 N N - 2 242650634 242650634 G A snp intronic ING5 Ing5 ENSG00000168395 inhibitor of growth family member 5 chr2:242641450-242668893 This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016] Tobacco Use Disorder Regulation of TP53 Activity through Acetylation GO:0006260;DNA replication;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006473;protein acetylation;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016573;histone acetylation;IEA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0043966;histone H3 acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045926;negative regulation of growth;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0070776;MOZ/MORF histone acetyltransferase complex;IEA GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ING5 https://www.ncbi.nlm.nih.gov/omim/?term=608525 http://www.informatics.jax.org/searchtool/Search.do?query=ING5&submit=Quick%0D%12259ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ING5 rs7371753 0.260783 0 0 1 0 0 intronic intronic intronic ING5 ING5 ENSG00000168395 Na Na Na Na Na Na Het;G>A 234;6|8 Ref Hom;G>A 198;0|6 N N - 2 242707101 242707101 A G snp intronic D2HGDH D2hgdh ENSG00000180902 D-2-hydroxyglutarate dehydrogenase chr2:242673994-242708231 This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] D-2-hydroxyglutaric aciduria 1 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0010042;response to manganese ion;ISS|GO:0010043;response to zinc ion;ISS|GO:0019516;lactate oxidation;IBA|GO:0022904;respiratory electron transport chain;IBA|GO:0032025;response to cobalt ion;ISS|GO:0044267;cellular protein metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS GO:0003824;catalytic activity;IEA|GO:0004458;D-lactate dehydrogenase (cytochrome) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051990;(R)-2-hydroxyglutarate dehydrogenase activity;EXP|GO:0071949;FAD binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/D2HGDH https://hpo.jax.org/app/browse/search?q=D2HGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609186 http://www.informatics.jax.org/searchtool/Search.do?query=D2HGDH&submit=Quick%0D%14546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=D2HGDH rs6756901 0.629992 0.6175 0.5294 1 0 0 intronic intronic intronic D2HGDH D2HGDH ENSG00000180902 Na Na Na Na Na Na Het;A>G 1597;51|62 Het;A>G 1635;61|74 Hom;A>G 2969;0|111 N N - 2 242714050 242714050 G GGCTGCTCCGC indel intergenic D2HGDH D2hgdh ENSG00000180902 D-2-hydroxyglutarate dehydrogenase chr2:242673994-242708231 This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] D-2-hydroxyglutaric aciduria 1 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0010042;response to manganese ion;ISS|GO:0010043;response to zinc ion;ISS|GO:0019516;lactate oxidation;IBA|GO:0022904;respiratory electron transport chain;IBA|GO:0032025;response to cobalt ion;ISS|GO:0044267;cellular protein metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS GO:0003824;catalytic activity;IEA|GO:0004458;D-lactate dehydrogenase (cytochrome) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051990;(R)-2-hydroxyglutarate dehydrogenase activity;EXP|GO:0071949;FAD binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/D2HGDH https://hpo.jax.org/app/browse/search?q=D2HGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609186 http://www.informatics.jax.org/searchtool/Search.do?query=D2HGDH&submit=Quick%0D%14546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=D2HGDH rs767643887 0 0 0 1 0 0 intergenic intergenic intergenic D2HGDH(dist=5819),GAL3ST2(dist=2190) D2HGDH(dist=5819),GAL3ST2(dist=2190) ENSG00000180902(dist=5824),ENSG00000154252(dist=2190) Na Na Na Na Na Na Het;+GCTGCTCCGC 247;3|7 Ref Hom;+GCTGCTCCGC 276;0|7 N N - 2 242714071 242714071 C CG indel intergenic D2HGDH D2hgdh ENSG00000180902 D-2-hydroxyglutarate dehydrogenase chr2:242673994-242708231 This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] D-2-hydroxyglutaric aciduria 1 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0010042;response to manganese ion;ISS|GO:0010043;response to zinc ion;ISS|GO:0019516;lactate oxidation;IBA|GO:0022904;respiratory electron transport chain;IBA|GO:0032025;response to cobalt ion;ISS|GO:0044267;cellular protein metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS GO:0003824;catalytic activity;IEA|GO:0004458;D-lactate dehydrogenase (cytochrome) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051990;(R)-2-hydroxyglutarate dehydrogenase activity;EXP|GO:0071949;FAD binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/D2HGDH https://hpo.jax.org/app/browse/search?q=D2HGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609186 http://www.informatics.jax.org/searchtool/Search.do?query=D2HGDH&submit=Quick%0D%14546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=D2HGDH rs143547035 0 0 0 1 0 0 intergenic intergenic intergenic D2HGDH(dist=5840),GAL3ST2(dist=2169) D2HGDH(dist=5840),GAL3ST2(dist=2169) ENSG00000180902(dist=5845),ENSG00000154252(dist=2169) Na Na Na Na Na Na Het;+G 287;3|8 Ref Hom;+G 278;0|7 N N - 2 242714092 242714092 G GTCTGCTCCCC indel intergenic D2HGDH D2hgdh ENSG00000180902 D-2-hydroxyglutarate dehydrogenase chr2:242673994-242708231 This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] D-2-hydroxyglutaric aciduria 1 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0010042;response to manganese ion;ISS|GO:0010043;response to zinc ion;ISS|GO:0019516;lactate oxidation;IBA|GO:0022904;respiratory electron transport chain;IBA|GO:0032025;response to cobalt ion;ISS|GO:0044267;cellular protein metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS GO:0003824;catalytic activity;IEA|GO:0004458;D-lactate dehydrogenase (cytochrome) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051990;(R)-2-hydroxyglutarate dehydrogenase activity;EXP|GO:0071949;FAD binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/D2HGDH https://hpo.jax.org/app/browse/search?q=D2HGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609186 http://www.informatics.jax.org/searchtool/Search.do?query=D2HGDH&submit=Quick%0D%14546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=D2HGDH Na 0 0 0 1 0 0 intergenic intergenic intergenic D2HGDH(dist=5861),GAL3ST2(dist=2148) D2HGDH(dist=5861),GAL3ST2(dist=2148) ENSG00000180902(dist=5866),ENSG00000154252(dist=2148) Na Na Na Na Na Na Het;+TCTGCTCCCC 248;3|6 Ref Hom;+TCTGCTCCCC 413;0|8 N N - 2 242714113 242714113 C CGCTGCTCCCCGGCTGCTCCCCG indel intergenic D2HGDH D2hgdh ENSG00000180902 D-2-hydroxyglutarate dehydrogenase chr2:242673994-242708231 This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] D-2-hydroxyglutaric aciduria 1 Interconversion of 2-oxoglutarate and 2-hydroxyglutarate GO:0006103;2-oxoglutarate metabolic process;TAS|GO:0010042;response to manganese ion;ISS|GO:0010043;response to zinc ion;ISS|GO:0019516;lactate oxidation;IBA|GO:0022904;respiratory electron transport chain;IBA|GO:0032025;response to cobalt ion;ISS|GO:0044267;cellular protein metabolic process;ISS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS GO:0003824;catalytic activity;IEA|GO:0004458;D-lactate dehydrogenase (cytochrome) activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051990;(R)-2-hydroxyglutarate dehydrogenase activity;EXP|GO:0071949;FAD binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/D2HGDH https://hpo.jax.org/app/browse/search?q=D2HGDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609186 http://www.informatics.jax.org/searchtool/Search.do?query=D2HGDH&submit=Quick%0D%14546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=D2HGDH Na 0 0 0 1 0 0 intergenic intergenic intergenic D2HGDH(dist=5882),GAL3ST2(dist=2127) D2HGDH(dist=5882),GAL3ST2(dist=2127) ENSG00000180902(dist=5887),ENSG00000154252(dist=2127) Na Na Na Na Na Na Het;+GCTGCTCCCCGGCTGCTCCCCG 206;3|6 Ref Hom;+GCTGCTCCCCGGCTGCTCCCCG 323;0|8 N N - 2 242755965 242755965 C T snp intronic NEU4 Neu4 ENSG00000277926 neuraminidase 4 chr2:242749920-242758739 The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009] Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder. Sialic acid metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006516;glycoprotein catabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IDA|GO:0016042;lipid catabolic process;IEA GO:0005764;lysosome;IDA|GO:0016020;membrane;IEA|GO:0019866;organelle inner membrane;IDA|GO:0043202;lysosomal lumen;TAS GO:0004308;exo-alpha-sialidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0052794;exo-alpha-(2->3)-sialidase activity;IEA|GO:0052795;exo-alpha-(2->6)-sialidase activity;IEA|GO:0052796;exo-alpha-(2->8)-sialidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEU4 https://www.ncbi.nlm.nih.gov/omim/?term=608527 http://www.informatics.jax.org/searchtool/Search.do?query=NEU4&submit=Quick%0D%21929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEU4 rs3749155 0.335663 0 0 1 0 0 intronic intronic intronic NEU4 NEU4 ENSG00000204099 Na Na Na Na Na Na Het;C>T 439;21|19 Het;C>T 375;16|15 Hom;C>T 453;0|17 N N - 2 242757119 242757119 T C snp UTR3 *233T>C NEU4 Neu4 ENSG00000277926 neuraminidase 4 chr2:242749920-242758739 The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009] Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder. Sialic acid metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006516;glycoprotein catabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IDA|GO:0016042;lipid catabolic process;IEA GO:0005764;lysosome;IDA|GO:0016020;membrane;IEA|GO:0019866;organelle inner membrane;IDA|GO:0043202;lysosomal lumen;TAS GO:0004308;exo-alpha-sialidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0052794;exo-alpha-(2->3)-sialidase activity;IEA|GO:0052795;exo-alpha-(2->6)-sialidase activity;IEA|GO:0052796;exo-alpha-(2->8)-sialidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEU4 https://www.ncbi.nlm.nih.gov/omim/?term=608527 http://www.informatics.jax.org/searchtool/Search.do?query=NEU4&submit=Quick%0D%21929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEU4 rs3749154 0.439896 0 0 1 0 0 intronic intronic UTR3 NEU4 NEU4 ENSG00000204099(ENST00000435855:c.*233T>C) Na Na Na Na Na Na Het;T>C 41;4|3 Ref Hom;T>C 196;0|8 N N - 2 242762923 242762923 A G snp intergenic NEU4 Neu4 ENSG00000277926 neuraminidase 4 chr2:242749920-242758739 The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009] Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder. Sialic acid metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006516;glycoprotein catabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IDA|GO:0016042;lipid catabolic process;IEA GO:0005764;lysosome;IDA|GO:0016020;membrane;IEA|GO:0019866;organelle inner membrane;IDA|GO:0043202;lysosomal lumen;TAS GO:0004308;exo-alpha-sialidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0052794;exo-alpha-(2->3)-sialidase activity;IEA|GO:0052795;exo-alpha-(2->6)-sialidase activity;IEA|GO:0052796;exo-alpha-(2->8)-sialidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEU4 https://www.ncbi.nlm.nih.gov/omim/?term=608527 http://www.informatics.jax.org/searchtool/Search.do?query=NEU4&submit=Quick%0D%21929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEU4 rs1609990 0.374401 0 0 1 0 0 intergenic intergenic intergenic NEU4(dist=4184),PDCD1(dist=29110) NEU4(dist=4184),PDCD1(dist=29110) ENSG00000204099(dist=4184),ENSG00000235151(dist=23609) Na Na Na Na Na Na Het;A>G 348;10|14 Het;A>G 159;7|9 Hom;A>G 633;0|25 N N - 2 242969315 242969315 G C snp ncRNA_intronic LINC01237 rs4973679 0.659145 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01237 BC101234(dist=21155),LOC728323(dist=61529) ENSG00000233806 Na Na Na Na Na Na Het;G>C 1182;46|57 Het;G>C 1054;59|54 Hom;G>C 1855;0|69 N N - 2 243020723 243020723 G A snp ncRNA_exonic LINC01237 rs4973686 0.302516 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01237 BC101234(dist=72563),LOC728323(dist=10121) ENSG00000233806 Na Na Na Na Na Na Het;G>A 900;64|46 Het;G>A 1703;47|73 Hom;G>A 2905;2|114 N N - 2 243088710 243088710 G C snp ncRNA_intronic LOC728323 rs55847402 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC728323 LOC728323 ENSG00000220804 Na Na Na Na Na Na Het;G>C 492;33|19 Het;G>C 757;30|30 Hom;G>C 1641;0|58 N N - 2 24369674 24369674 C T snp synonymous SNV C87T N29N polar,hydrophilic,neutral polar,hydrophilic,neutral FAM228B Fam228b ENSG00000219626 family with sequence similarity 228 member B chr2:24299396-24392509 http://www.genecards.org/index.php?path=/Search/keyword/FAM228B http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B rs11693860 0.846046 0 0.9140 1 0 0 exonic exonic exonic FAM228B FAM228B ENSG00000219626,ENSG00000266118 unknown synonymous SNV unknown UNKNOWN FAM228B:uc002rew.3:exon6:c.C87T:p.N29N,FAM228B:uc010ykl.2:exon6:c.C498T:p.N166N, UNKNOWN Het;C>T 809;66|37 Het;C>T 1297;71|60 Hom;C>T 3426;0|128 N N - 2 24384424 24384424 T C snp synonymous SNV T324C P108P hydrophobic,neutral hydrophobic,neutral FAM228B Fam228b ENSG00000219626 family with sequence similarity 228 member B chr2:24299396-24392509 http://www.genecards.org/index.php?path=/Search/keyword/FAM228B http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B rs4665667 0.813898 0.8215 0.8837 1 0 0 exonic exonic exonic FAM228B FAM228B ENSG00000219626 unknown synonymous SNV unknown UNKNOWN FAM228B:uc002rew.3:exon8:c.T324C:p.P108P,FAM228B:uc010ykl.2:exon8:c.T735C:p.P245P, UNKNOWN Het;T>C 1189;54|52 Het;T>C 436;52|25 Hom;T>C 2350;0|85 N N - 2 24387178 24387178 G GC indel frameshift substitution 494_494delinsGC FAM228B Fam228b ENSG00000219626 family with sequence similarity 228 member B chr2:24299396-24392509 http://www.genecards.org/index.php?path=/Search/keyword/FAM228B http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B rs113322110 0.962061 0.9694 0.9666 1 0 0 exonic exonic;splicing exonic;splicing FAM228B FAM228B;FAM228B(uc010ykl.2:exon9:c.903+2G>GC,uc010ykl.2:exon10:c.904-1G>GC) ENSG00000219626,ENSG00000266118;ENSG00000219626(ENST00000420135:exon9:c.903+2G>GC,ENST00000420135:exon10:c.904-1G>GC) unknown frameshift substitution unknown UNKNOWN FAM228B:uc002rew.3:exon9:c.494_494delinsGC, UNKNOWN Het;+C 2044;62|66 Het;+C 1772;84|59 Hom;+C 4228;0|115 N N - 2 24390517 24390517 G A snp nonsynonymous SNV G542A G181D aliphatic,neutral polar,hydrophilic,charged(-) FAM228B Fam228b ENSG00000219626 family with sequence similarity 228 member B chr2:24299396-24392509 http://www.genecards.org/index.php?path=/Search/keyword/FAM228B http://www.informatics.jax.org/searchtool/Search.do?query=FAM228B&submit=Quick%0D%18390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228B rs2288072 0.586661 0.5510 0.6149 1 0 0 exonic exonic exonic FAM228B FAM228B ENSG00000219626 unknown nonsynonymous SNV unknown UNKNOWN FAM228B:uc002rew.3:exon10:c.G542A:p.G181D, UNKNOWN Het;G>A 790;30|40 Het;G>A 366;54|25 Hom;G>A 2417;0|94 N N - 2 24398281 24398281 T G snp intronic FAM228A Fam228a ENSG00000186453 family with sequence similarity 228 member A chr2:24397938-24423718 http://www.genecards.org/index.php?path=/Search/keyword/FAM228A http://www.informatics.jax.org/searchtool/Search.do?query=FAM228A&submit=Quick%0D%15645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228A rs2042467 0.854633 0 0 1 0 0 intronic intronic intronic FAM228A FAM228A ENSG00000186453,ENSG00000266118 Na Na Na Na Na Na Het;T>G 239;6|9 Het;T>G 117;22|7 Hom;T>G 377;0|13 N N - 2 24398446 24398446 A T snp intronic FAM228A Fam228a ENSG00000186453 family with sequence similarity 228 member A chr2:24397938-24423718 http://www.genecards.org/index.php?path=/Search/keyword/FAM228A http://www.informatics.jax.org/searchtool/Search.do?query=FAM228A&submit=Quick%0D%15645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM228A rs2042468 0.622005 0.5822 0.6432 1 0 0 intronic intronic intronic FAM228A FAM228A ENSG00000186453,ENSG00000266118 Na Na Na Na Na Na Het;A>T 502;15|21 Het;A>T 608;23|27 Hom;A>T 1387;0|55 N N - 2 24432211 24432211 C T snp intronic ITSN2 Itsn2 ENSG00000198399 intersectin 2 chr2:24425733-24583583 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Parkinson Disease; coronary spastic angina; Memory, Short-Term Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITSN2 https://www.ncbi.nlm.nih.gov/omim/?term=604464 http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2 rs2303293 0.856829 0 0 1 0 0 intronic intronic intronic ITSN2 ITSN2 ENSG00000198399 Na Na Na Na Na Na Het;C>T 386;23|15 Het;C>T 256;16|10 Hom;C>T 514;0|18 N N - 2 24432620 24432620 A G snp intronic ITSN2 Itsn2 ENSG00000198399 intersectin 2 chr2:24425733-24583583 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Parkinson Disease; coronary spastic angina; Memory, Short-Term Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITSN2 https://www.ncbi.nlm.nih.gov/omim/?term=604464 http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2 rs2303294 0.676917 0 0 1 0 0 intronic intronic intronic ITSN2 ITSN2 ENSG00000198399 Na Na Na Na Na Na Het;A>G 336;7|11 Het;A>G 197;4|7 Hom;A>G 347;0|10 N N - 2 24432667 24432667 C G snp intronic ITSN2 Itsn2 ENSG00000198399 intersectin 2 chr2:24425733-24583583 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Parkinson Disease; coronary spastic angina; Memory, Short-Term Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITSN2 https://www.ncbi.nlm.nih.gov/omim/?term=604464 http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2 rs2303295 0.859625 0.8405 0.8981 1 0 0 intronic intronic intronic ITSN2 ITSN2 ENSG00000198399 Na Na Na Na Na Na Het;C>G 657;21|27 Het;C>G 459;9|18 Hom;C>G 1115;0|38 N N - 2 24601000 24601001 GA G indel intergenic ITSN2 Itsn2 ENSG00000198399 intersectin 2 chr2:24425733-24583583 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Parkinson Disease; coronary spastic angina; Memory, Short-Term Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITSN2 https://www.ncbi.nlm.nih.gov/omim/?term=604464 http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2 rs11338626 0.787939 0 0 1 0 0 intergenic intergenic intergenic ITSN2(dist=17603),NCOA1(dist=206345) ITSN2(dist=17603),NCOA1(dist=186178) ENSG00000198399(dist=17417),ENSG00000084676(dist=113800) Na Na Na Na Na Na Het;-A 647;46|24 Het;-A 684;29|24 Hom;-A 2206;0|60 N N - 2 25039804 25039804 G A snp intronic CENPO Cenpo ENSG00000138092 centromere protein O chr2:25016005-25045245 This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Bipolar Disorder Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. Mitotic Prometaphase GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CENPO https://www.uniprot.org/uniprot/Q9BU64 https://www.ncbi.nlm.nih.gov/omim/?term=611504 http://www.informatics.jax.org/searchtool/Search.do?query=CENPO&submit=Quick%0D%7671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPO rs2099505 0.954673 0 0 1 0 0 intronic intronic intronic CENPO CENPO ENSG00000138092 Na Na Na Na Na Na Het;G>A 340;8|11 Het;G>A 367;12|13 Hom;G>A 572;0|18 N N - 2 25920301 25920301 C G snp upstream Y_RNA rs10184375 0.328674 0 0 1 0 0 intergenic upstream upstream DTNB(dist=23785),ASXL2(dist=41952) Y_RNA ENSG00000201160 Na Na Na Na Na Na Het;C>G 793;29|35 Het;C>G 1152;24|45 Hom;C>G 1105;0|39 N N - 2 25920359 25920359 G A snp upstream Y_RNA rs13026781 0.310703 0 0 1 0 0 intergenic upstream upstream DTNB(dist=23843),ASXL2(dist=41894) Y_RNA ENSG00000201160 Na Na Na Na Na Na Het;G>A 277;14|11 Het;G>A 509;8|18 Hom;G>A 344;0|12 N N - 2 26032421 26032421 G T snp intronic ASXL2 Asxl2 ENSG00000143970 additional sex combs like 2, transcriptional regulator chr2:25956622-26101385 ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a severe hypomorphic allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis. UCH proteinases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016579;protein deubiquitination;TAS|GO:0035360;positive regulation of peroxisome proliferator activated receptor signaling pathway;IDA|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003677;DNA binding;IEA|GO:0042975;peroxisome proliferator activated receptor binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASXL2 https://www.uniprot.org/uniprot/Q76L83 https://hpo.jax.org/app/browse/search?q=ASXL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612991 http://www.informatics.jax.org/searchtool/Search.do?query=ASXL2&submit=Quick%0D%8544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASXL2 rs7560766 0.274361 0 0 1 0 0 intronic intronic intronic ASXL2 ASXL2 ENSG00000143970 Na Na Na Na Na Na Het;G>T 329;23|15 Het;G>T 582;16|23 Hom;G>T 814;0|29 N N - 2 277995 277995 A G snp UTR3 *691A>G ACP1 Acp1 ENSG00000143727 acid phosphatase 1, soluble chr2:264140-278283 The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] tuberculosis; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; tuberculosis; intrauterine growth; Hypersensitivity; Abortion, Spontaneous; diabetes, type 1; Tourette syndrome; diabetes, type 2; cholesterol; triglycerides; obesity; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Malaria; Cardiovascular Diseases|Obesity; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 1 ; obesity; Endometriosis|Hypersensitivity; Epilepsy, Generalized|Epilepsy, Tonic-Clonic; Lupus Erythematosus, Systemic; asthma; haptoglobin development; Leiomyoma|Uterine Neoplasms; obesity|asthma; Birth Weight; osteoporosis, postmenopausal; allergies; Neoplasms; Tobacco Use Disorder; Coronary Artery Disease|Diabetes Mellitus, Type 2|; Obesity; glucose; triglyceride levels; Diabetes Mellitus, Type 2|Diabetes, Gestational|Insulin Resistance; cirrhosis, alcoholic; Colonic Neoplasms| Mice homozygous for a null allele show an increased mean serum IL-6 response to LPS challenge. Male homozygotes are smaller than controls whereas female homozygotes show an increased mean skin fibroblast proliferation rate. Males homozygous for a different null allele show decreased response of heart to induced stress. GO:0006470;protein dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003993;acid phosphatase activity;TAS|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004726;non-membrane spanning protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACP1 https://www.uniprot.org/uniprot/P24666 https://www.ncbi.nlm.nih.gov/omim/?term=171500 http://www.informatics.jax.org/searchtool/Search.do?query=ACP1&submit=Quick%0D%8499ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACP1 rs6855 0.251597 0 0 1 0 0 UTR3 UTR3 UTR3 ACP1(NM_007099:c.*691A>G,NM_004300:c.*691A>G) ACP1(uc002qwg.3:c.*691A>G,uc002qwf.3:c.*691A>G) ENSG00000143727(ENST00000272067:c.*691A>G,ENST00000272065:c.*691A>G) Na Na Na Na Na Na Het;A>G 2831;116|115 Het;A>G 2474;82|106 Hom;A>G 5768;0|205 N N - 2 28530720 28530720 A G snp ncRNA_exonic LOC100505716 rs4666052 0.684904 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100505716 LOC100505716 ENSG00000223522 Na Na Na Na Na Na Het;A>G 618;32|28 Het;A>G 906;33|41 Hom;A>G 1637;0|59 N N - 2 28531903 28531903 A G snp ncRNA_exonic LOC100505716 rs13031756 0.546725 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100505716 LOC100505716 ENSG00000223522 Na Na Na Na Na Na Het;A>G 2078;90|81 Het;A>G 1507;72|64 Hom;A>G 4766;0|166 N N - 2 28532309 28532309 A G snp ncRNA_exonic LOC100505716 rs1038693 0.697085 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100505716 LOC100505716 ENSG00000223522 Na Na Na Na Na Na Het;A>G 2512;95|107 Het;A>G 1614;101|83 Hom;A>G 4341;0|157 N N - 2 28677086 28677086 G C snp intergenic FOSL2 Fosl2 ENSG00000075426 FOS like 2, AP-1 transcription factor subunit chr2:28615315-28640179 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014] alcohol consumption; Parkinson Disease; Diabetes Mellitus, Type 1 Mice homozygous for disruptions in this gene die within one week after birth and show postnatal growth retardation. Further analysis of one allele showed abnormal cartilage development, with delayed bone ossification and impaired chondrocyte differentiation. GO:0003334;keratinocyte development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008219;cell death;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FOSL2 https://www.uniprot.org/uniprot/P15408 https://www.ncbi.nlm.nih.gov/omim/?term=601575 http://www.informatics.jax.org/searchtool/Search.do?query=FOSL2&submit=Quick%0D%1549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FOSL2 rs11127152 0.629193 0 0 1 0 0 intergenic intergenic intergenic FOSL2(dist=39570),PLB1(dist=41852) FOSL2(dist=37641),PLB1(dist=41852) ENSG00000227938(dist=4035),ENSG00000163803(dist=2926) Na Na Na Na Na Na Het;G>C 276;19|13 Het;G>C 413;18|16 Hom;G>C 1128;0|42 N N - 2 28789643 28789643 T C snp intronic PLB1 Plb1 ENSG00000163803 phospholipase B1 chr2:28680012-28866654 This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016] Diabetes Mellitus, Type 2; Arteries; Body Composition; Waist-Hip Ratio; Basophils Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0042572;retinol metabolic process;IEA|GO:2000344;positive regulation of acrosome reaction;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0004622;lysophospholipase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0016298;lipase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050253;retinyl-palmitate esterase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLB1 https://www.ncbi.nlm.nih.gov/omim/?term=610179 http://www.informatics.jax.org/searchtool/Search.do?query=PLB1&submit=Quick%0D%11092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLB1 rs10186460 0.363618 0.4326 0.4392 1 0 0 intronic intronic intronic PLB1 PLB1 ENSG00000163803 Na Na Na Na Na Na Het;T>C 3300;105|136 Het;T>C 2377;89|103 Hom;T>C 5788;0|208 N N - 2 28789884 28789884 G A snp intronic PLB1 Plb1 ENSG00000163803 phospholipase B1 chr2:28680012-28866654 This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016] Diabetes Mellitus, Type 2; Arteries; Body Composition; Waist-Hip Ratio; Basophils Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0042572;retinol metabolic process;IEA|GO:2000344;positive regulation of acrosome reaction;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0004622;lysophospholipase activity;IEA|GO:0004623;phospholipase A2 activity;TAS|GO:0016298;lipase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050253;retinyl-palmitate esterase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLB1 https://www.ncbi.nlm.nih.gov/omim/?term=610179 http://www.informatics.jax.org/searchtool/Search.do?query=PLB1&submit=Quick%0D%11092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLB1 rs12714237 0.299321 0 0 1 0 0 intronic intronic intronic PLB1 PLB1 ENSG00000163803 Na Na Na Na Na Na Het;G>A 36;2|2 Ref Hom;G>A 153;0|5 N N - 2 29356669 29356669 A G snp synonymous SNV A516G T172T polar,hydrophilic,neutral polar,hydrophilic,neutral CLIP4 Clip4 ENSG00000115295 CAP-Gly domain containing linker protein family member 4 chr2:29320571-29412509 Glucose GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLIP4 https://www.uniprot.org/uniprot/Q8N3C7 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP4&submit=Quick%0D%4579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP4 rs3100232 0.415136 0.4682 0.3704 1 0 0 exonic exonic exonic CLIP4 CLIP4 ENSG00000115295 synonymous SNV synonymous SNV unknown CLIP4:NM_024692:exon5:c.A516G:p.T172T,CLIP4:NM_001287527:exon5:c.A516G:p.T172T,CLIP4:NM_001287528:exon5:c.A516G:p.T172T, CLIP4:uc010ezm.1:exon5:c.A516G:p.T172T,CLIP4:uc002rmu.3:exon5:c.A516G:p.T172T,CLIP4:uc010ymn.1:exon4:c.A462G:p.T154T,CLIP4:uc002rmv.3:exon5:c.A516G:p.T172T, UNKNOWN Het;A>G 1091;36|41 Het;A>G 955;40|42 Hom;A>G 1837;0|66 N N - 2 29366875 29366875 C CACAG indel intronic CLIP4 Clip4 ENSG00000115295 CAP-Gly domain containing linker protein family member 4 chr2:29320571-29412509 Glucose GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLIP4 https://www.uniprot.org/uniprot/Q8N3C7 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP4&submit=Quick%0D%4579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP4 rs3217572 0 0 0 1 0 0 intronic intronic intronic CLIP4 CLIP4 ENSG00000115295 Na Na Na Na Na Na Het;+ACAG 911;27|26 Het;+ACAG 653;18|18 Hom;+ACAG 1562;0|36 N N - 2 29375828 29375828 T C snp intronic CLIP4 Clip4 ENSG00000115295 CAP-Gly domain containing linker protein family member 4 chr2:29320571-29412509 Glucose GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLIP4 https://www.uniprot.org/uniprot/Q8N3C7 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP4&submit=Quick%0D%4579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP4 rs3100238 0.0820687 0 0 1 0 0 intronic intronic intronic CLIP4 CLIP4 ENSG00000115295 Na Na Na Na Na Na Het;T>C 158;5|6 Ref Hom;T>C 384;0|13 N N - 2 29390299 29390300 AG A indel intronic CLIP4 Clip4 ENSG00000115295 CAP-Gly domain containing linker protein family member 4 chr2:29320571-29412509 Glucose GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLIP4 https://www.uniprot.org/uniprot/Q8N3C7 http://www.informatics.jax.org/searchtool/Search.do?query=CLIP4&submit=Quick%0D%4579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLIP4 rs11364047 0.0844649 0.1492 0.1394 1 0 0 intronic intronic intronic CLIP4 CLIP4 ENSG00000115295 Na Na Na Na Na Na Het;-G 996;17|29 Het;-G 639;24|20 Hom;-G 1337;0|34 N N - 2 29541104 29541104 C T snp intronic ALK Alk ENSG00000171094 ALK receptor tyrosine kinase chr2:29415640-30144432 This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] Body Height; lung cancer ; Depressive Disorder, Major; schizophrenia; Diabetes Mellitus; Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; Adenocarcinoma|Lung Neoplasms|Neoplasm of lung ; Insulin Resistance; Coronary Artery Disease; Leukemia, Lymphocytic, Chronic, B-Cell; Hemoglobin A, Glycosylated; Cell Transformation, Neoplastic|Neuroblastoma; Insulin; Hemoglobins; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Heart Rate; Multiple Sclerosis Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology. GO:0000187;activation of MAPK activity;TAS|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007420;brain development;IEA|GO:0008283;cell proliferation;TAS|GO:0016310;phosphorylation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021766;hippocampus development;IEA|GO:0030534;adult behavior;IEA|GO:0036269;swimming behavior;IEA|GO:0038061;NIK/NF-kappaB signaling;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0046777;protein autophosphorylation;IDA|GO:0048666;neuron development;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0090648;response to environmental enrichment;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004704;NF-kappaB-inducing kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALK https://hpo.jax.org/app/browse/search?q=ALK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=105590 http://www.informatics.jax.org/searchtool/Search.do?query=ALK&submit=Quick%0D%12843ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALK rs2276549 0.584665 0 0 1 0 0 intronic intronic intronic ALK ALK ENSG00000171094 Na Na Na Na Na Na Het;C>T 689;30|32 Het;C>T 850;40|42 Hom;C>T 1338;0|48 N N - 2 31415826 31415826 A G snp intronic CAPN14 ENSG00000214711 calpain 14 chr2:31395924-31456724 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] Schizophrenia Degradation of the extracellular matrix GO:0006508;proteolysis;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPN14 https://www.ncbi.nlm.nih.gov/omim/?term=610229 http://www.informatics.jax.org/searchtool/Search.do?query=CAPN14&submit=Quick%0D%18269ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN14 rs6543614 0.795927 0 0 1 0 0 intronic intronic intronic CAPN14 CAPN14 ENSG00000214711 Na Na Na Na Na Na Het;A>G 128;4|4 Ref Hom;A>G 377;0|9 N N - 2 31415831 31415831 A G snp intronic CAPN14 ENSG00000214711 calpain 14 chr2:31395924-31456724 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] Schizophrenia Degradation of the extracellular matrix GO:0006508;proteolysis;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPN14 https://www.ncbi.nlm.nih.gov/omim/?term=610229 http://www.informatics.jax.org/searchtool/Search.do?query=CAPN14&submit=Quick%0D%18269ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN14 rs6543615 0.795128 0 0 1 0 0 intronic intronic intronic CAPN14 CAPN14 ENSG00000214711 Na Na Na Na Na Na Het;A>G 128;4|4 Ref Hom;A>G 377;0|9 N N - 2 31483890 31483890 T C snp intronic EHD3 Ehd3 ENSG00000013016 EH domain containing 3 chr2:31456880-31492313 mean platelet volume; Platelet Count Mice homozygous for a knock-out allele are healthy and fertile. Factors involved in megakaryocyte development and platelet production GO:0001881;receptor recycling;IMP|GO:0006810;transport;IEA|GO:0007596;blood coagulation;TAS|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0032456;endocytic recycling;IDA|GO:0034498;early endosome to Golgi transport;IMP|GO:0051260;protein homooligomerization;IPI|GO:0055117;regulation of cardiac muscle contraction;IEA|GO:0060271;cilium assembly;IMP|GO:0072661;protein targeting to plasma membrane;IGI|GO:0086036;regulation of cardiac muscle cell membrane potential;IGI|GO:0090160;Golgi to lysosome transport;IMP|GO:1901387;positive regulation of voltage-gated calcium channel activity;IEA|GO:1903358;regulation of Golgi organization;IMP|GO:1903779;regulation of cardiac conduction;IEA GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0005929;cilium;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0060170;ciliary membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHD3 https://www.uniprot.org/uniprot/Q9NZN3 https://www.ncbi.nlm.nih.gov/omim/?term=605891 http://www.informatics.jax.org/searchtool/Search.do?query=EHD3&submit=Quick%0D%586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD3 rs13028669 0.669529 0 0 1 0 0 intronic intronic intronic EHD3 EHD3 ENSG00000013016 Na Na Na Na Na Na Het;T>C 236;5|9 Het;T>C 138;1|5 Hom;T>C 265;0|8 N N - 2 31484334 31484334 G A snp intronic EHD3 Ehd3 ENSG00000013016 EH domain containing 3 chr2:31456880-31492313 mean platelet volume; Platelet Count Mice homozygous for a knock-out allele are healthy and fertile. Factors involved in megakaryocyte development and platelet production GO:0001881;receptor recycling;IMP|GO:0006810;transport;IEA|GO:0007596;blood coagulation;TAS|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0032456;endocytic recycling;IDA|GO:0034498;early endosome to Golgi transport;IMP|GO:0051260;protein homooligomerization;IPI|GO:0055117;regulation of cardiac muscle contraction;IEA|GO:0060271;cilium assembly;IMP|GO:0072661;protein targeting to plasma membrane;IGI|GO:0086036;regulation of cardiac muscle cell membrane potential;IGI|GO:0090160;Golgi to lysosome transport;IMP|GO:1901387;positive regulation of voltage-gated calcium channel activity;IEA|GO:1903358;regulation of Golgi organization;IMP|GO:1903779;regulation of cardiac conduction;IEA GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0005929;cilium;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0060170;ciliary membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHD3 https://www.uniprot.org/uniprot/Q9NZN3 https://www.ncbi.nlm.nih.gov/omim/?term=605891 http://www.informatics.jax.org/searchtool/Search.do?query=EHD3&submit=Quick%0D%586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD3 rs654650 0.894369 0 0 1 0 0 intronic intronic intronic EHD3 EHD3 ENSG00000013016 Na Na Na Na Na Na Het;G>A 579;10|19 Het;G>A 207;18|10 Hom;G>A 355;0|13 N N - 2 31488965 31488965 C T snp intronic EHD3 Ehd3 ENSG00000013016 EH domain containing 3 chr2:31456880-31492313 mean platelet volume; Platelet Count Mice homozygous for a knock-out allele are healthy and fertile. Factors involved in megakaryocyte development and platelet production GO:0001881;receptor recycling;IMP|GO:0006810;transport;IEA|GO:0007596;blood coagulation;TAS|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0032456;endocytic recycling;IDA|GO:0034498;early endosome to Golgi transport;IMP|GO:0051260;protein homooligomerization;IPI|GO:0055117;regulation of cardiac muscle contraction;IEA|GO:0060271;cilium assembly;IMP|GO:0072661;protein targeting to plasma membrane;IGI|GO:0086036;regulation of cardiac muscle cell membrane potential;IGI|GO:0090160;Golgi to lysosome transport;IMP|GO:1901387;positive regulation of voltage-gated calcium channel activity;IEA|GO:1903358;regulation of Golgi organization;IMP|GO:1903779;regulation of cardiac conduction;IEA GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0005929;cilium;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0060170;ciliary membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHD3 https://www.uniprot.org/uniprot/Q9NZN3 https://www.ncbi.nlm.nih.gov/omim/?term=605891 http://www.informatics.jax.org/searchtool/Search.do?query=EHD3&submit=Quick%0D%586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD3 rs619002 0.900359 0 0 1 0 0 intronic intronic intronic EHD3 EHD3 ENSG00000013016 Na Na Na Na Na Na Het;C>T 98;6|5 Het;C>T 240;6|9 Hom;C>T 469;0|14 N N - 2 31489727 31489727 T C snp UTR3 *659T>C EHD3 Ehd3 ENSG00000013016 EH domain containing 3 chr2:31456880-31492313 mean platelet volume; Platelet Count Mice homozygous for a knock-out allele are healthy and fertile. Factors involved in megakaryocyte development and platelet production GO:0001881;receptor recycling;IMP|GO:0006810;transport;IEA|GO:0007596;blood coagulation;TAS|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0032456;endocytic recycling;IDA|GO:0034498;early endosome to Golgi transport;IMP|GO:0051260;protein homooligomerization;IPI|GO:0055117;regulation of cardiac muscle contraction;IEA|GO:0060271;cilium assembly;IMP|GO:0072661;protein targeting to plasma membrane;IGI|GO:0086036;regulation of cardiac muscle cell membrane potential;IGI|GO:0090160;Golgi to lysosome transport;IMP|GO:1901387;positive regulation of voltage-gated calcium channel activity;IEA|GO:1903358;regulation of Golgi organization;IMP|GO:1903779;regulation of cardiac conduction;IEA GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0005929;cilium;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043209;myelin sheath;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055038;recycling endosome membrane;IDA|GO:0060170;ciliary membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHD3 https://www.uniprot.org/uniprot/Q9NZN3 https://www.ncbi.nlm.nih.gov/omim/?term=605891 http://www.informatics.jax.org/searchtool/Search.do?query=EHD3&submit=Quick%0D%586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHD3 rs644926 0.901158 0 0 1 0 0 UTR3 UTR3 UTR3 EHD3(NM_014600:c.*157T>C) EHD3(uc002rnu.3:c.*157T>C,uc010ymt.2:c.*659T>C) ENSG00000013016(ENST00000541626:c.*659T>C,ENST00000322054:c.*157T>C) Na Na Na Na Na Na Het;T>C 69;2|3 Het;T>C 31;2|2 Hom;T>C 193;0|6 N N - 2 32768797 32768797 G A snp intronic BIRC6 Birc6 ENSG00000115760 baculoviral IAP repeat containing 6 chr2:32582096-32843966 This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] longevity; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary Homozygous mice exhibit perinatal lethality and exhibit placental defects. GO:0001890;placenta development;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0016567;protein ubiquitination;TAS|GO:0032465;regulation of cytokinesis;IMP|GO:0042127;regulation of cell proliferation;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0051301;cell division;IEA|GO:0060711;labyrinthine layer development;IEA|GO:0060712;spongiotrophoblast layer development;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0061631;ubiquitin conjugating enzyme activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BIRC6 https://www.uniprot.org/uniprot/Q9NR09 https://www.ncbi.nlm.nih.gov/omim/?term=605638 http://www.informatics.jax.org/searchtool/Search.do?query=BIRC6&submit=Quick%0D%4655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BIRC6 rs2254106 0.404553 0 0 1 0 0 intronic intronic intronic BIRC6 BIRC6 ENSG00000115760 Na Na Na Na Na Na Het;G>A 153;11|6 Ref Hom;G>A 162;0|5 N N - 2 32959024 32959024 T C snp intronic TTC27 Ttc27 ENSG00000018699 tetratricopeptide repeat domain 27 chr2:32853099-33046118 Calcium; Tobacco Use Disorder; Eosinophils GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TTC27 https://www.uniprot.org/uniprot/Q6P3X3 http://www.informatics.jax.org/searchtool/Search.do?query=TTC27&submit=Quick%0D%642ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC27 rs1551177 0.420527 0.4865 0.4792 1 0 0 intronic intronic intronic TTC27 TTC27 ENSG00000018699 Na Na Na Na Na Na Het;T>C 529;33|25 Het;T>C 633;31|29 Hom;T>C 1746;0|62 N N - 2 33335847 33335847 C T snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs218226 0.392372 0.3796 0.4137 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;C>T 642;24|27 Het;C>T 499;28|22 Hom;C>T 1679;0|54 N N - 2 33412077 33412077 G A snp synonymous SNV G378A A126A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs1065324 0.367812 0.4427 0.4592 1 0 0 exonic exonic exonic LTBP1 LTBP1 ENSG00000049323 synonymous SNV synonymous SNV unknown LTBP1:NM_001166266:exon2:c.G378A:p.A126A,LTBP1:NM_001166264:exon2:c.G378A:p.A126A,LTBP1:NM_000627:exon2:c.G378A:p.A126A,LTBP1:NM_001166265:exon2:c.G378A:p.A126A,LTBP1:NM_206943:exon6:c.G1356A:p.A452A, LTBP1:uc021vft.1:exon6:c.G1356A:p.A452A,LTBP1:uc010ymz.2:exon2:c.G378A:p.A126A,LTBP1:uc002rov.3:exon2:c.G378A:p.A126A,LTBP1:uc002rou.3:exon2:c.G378A:p.A126A,LTBP1:uc010yna.2:exon2:c.G378A:p.A126A, UNKNOWN Het;G>A 1714;68|77 Het;G>A 1397;65|66 Hom;G>A 3062;0|113 N N - 2 33413640 33413640 G T snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs6712473 0.446685 0.5313 0.4994 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;G>T 979;41|38 Het;G>T 686;26|27 Hom;G>T 2436;0|86 N N - 2 33413949 33413949 G A snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs4542826 0.495008 0.5688 0.5418 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;G>A 789;28|34 Het;G>A 903;34|38 Hom;G>A 1281;0|45 N N - 2 33442549 33442549 G A snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs2290449 0.482827 0 0 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;G>A 283;16|12 Het;G>A 428;9|19 Hom;G>A 653;0|20 N N - 2 33447023 33447023 G A snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs7608535 0.335064 0 0 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;G>A 108;2|4 Ref Hom;G>A 121;0|4 N N - 2 33447202 33447202 C T snp synonymous SNV C882T N294N polar,hydrophilic,neutral polar,hydrophilic,neutral LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs2290448 0.332668 0.4024 0.4312 1 0 0 exonic exonic exonic LTBP1 LTBP1 ENSG00000049323 synonymous SNV synonymous SNV unknown LTBP1:NM_001166266:exon5:c.C882T:p.N294N,LTBP1:NM_001166264:exon5:c.C882T:p.N294N,LTBP1:NM_000627:exon5:c.C882T:p.N294N,LTBP1:NM_001166265:exon5:c.C882T:p.N294N,LTBP1:NM_206943:exon9:c.C1860T:p.N620N, LTBP1:uc021vft.1:exon9:c.C1860T:p.N620N,LTBP1:uc010ymz.2:exon5:c.C882T:p.N294N,LTBP1:uc002rov.3:exon5:c.C882T:p.N294N,LTBP1:uc002rou.3:exon5:c.C882T:p.N294N,LTBP1:uc010yna.2:exon5:c.C882T:p.N294N, UNKNOWN Het;C>T 611;26|28 Het;C>T 314;31|18 Hom;C>T 1645;2|66 N N - 2 33540138 33540138 G A snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs2276591 0.550319 0 0 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;G>A 55;15|4 Het;G>A 425;10|18 Hom;G>A 480;0|18 N N - 2 33540248 33540248 G A snp synonymous SNV G2505A P835P hydrophobic,neutral hydrophobic,neutral LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs1058840 0.460264 0.5581 0.6003 1 0 0 exonic exonic exonic LTBP1 LTBP1 ENSG00000049323 synonymous SNV synonymous SNV unknown LTBP1:NM_001166266:exon20:c.G2505A:p.P835P,LTBP1:NM_001166264:exon20:c.G2664A:p.P888P,LTBP1:NM_000627:exon20:c.G2664A:p.P888P,LTBP1:NM_001166265:exon20:c.G2505A:p.P835P,LTBP1:NM_206943:exon24:c.G3642A:p.P1214P, LTBP1:uc021vft.1:exon24:c.G3642A:p.P1214P,LTBP1:uc010ymz.2:exon20:c.G2664A:p.P888P,LTBP1:uc010ynb.2:exon6:c.G462A:p.P154P,LTBP1:uc002rov.3:exon20:c.G2505A:p.P835P,LTBP1:uc002rou.3:exon20:c.G2664A:p.P888P,LTBP1:uc010yna.2:exon20:c.G2505A:p.P835P, UNKNOWN Het;G>A 1069;83|54 Het;G>A 1144;76|58 Hom;G>A 3315;0|130 N N - 2 33568137 33568137 G A snp intronic LTBP1 Ltbp1 ENSG00000049323 latent transforming growth factor beta binding protein 1 chr2:33172039-33624576 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; colorectal cancer; Parkinson Disease; Body Height; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Cholesterol; Iron; Body Weight; Tobacco Use Disorder; height; ovarian cancer; Hepatitis C, Chronic|Liver Cirrhosis; Bone Mineral Density; Abdominal Aortic Aneurysm; Lipoproteins, VLDL; Triglycerides Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. Post-translational protein phosphorylation GO:0003281;ventricular septum development;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;TAS|GO:0035904;aorta development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060976;coronary vasculature development;IEA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043234;protein complex;IDA GO:0005024;transforming growth factor beta-activated receptor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019838;growth factor binding;IEA|GO:0050431;transforming growth factor beta binding;IPI|GO:0050436;microfibril binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LTBP1 https://www.uniprot.org/uniprot/Q14766 https://www.ncbi.nlm.nih.gov/omim/?term=150390 http://www.informatics.jax.org/searchtool/Search.do?query=LTBP1&submit=Quick%0D%909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTBP1 rs5024713 0.388778 0 0 1 0 0 intronic intronic intronic LTBP1 LTBP1 ENSG00000049323 Na Na Na Na Na Na Het;G>A 318;8|11 Het;G>A 330;11|8 Hom;G>A 957;0|25 N N - 2 33711231 33711232 AT A indel intronic RASGRP3 Rasgrp3 ENSG00000152689 RAS guanyl releasing protein 3 chr2:33661391-33789817 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] systemic lupus erythematosus; Tobacco Use Disorder; Lupus Erythematosus, Systemic; hypertension (young onset); Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; Blood Pressure; Hypertension Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007265;Ras protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0032045;guanyl-nucleotide exchange factor complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IDA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0019900;kinase binding;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGRP3 https://www.uniprot.org/uniprot/Q8IV61 https://www.ncbi.nlm.nih.gov/omim/?term=609531 http://www.informatics.jax.org/searchtool/Search.do?query=RASGRP3&submit=Quick%0D%9582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRP3 rs11288449 0 0 0 1 0 0 intronic intronic intronic RASGRP3 RASGRP3 ENSG00000152689 Na Na Na Na Na Na Het;-T 580;6|33 Het;-T 413;3|22 Hom;-T 912;5|49 N N - 2 33951149 33951149 C CTTA indel ncRNA_exonic MYADML rs57321494 0.47524 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic MYADML MYADML(uc002rpb.3:c.*956G>TAAG) ENSG00000239649 Na Na Na Na Na Na Het;+TTA 824;35|22 Het;+TTA 1382;41|35 Hom;+TTA 2342;0|52 N N - 2 33951513 33951513 T C snp ncRNA_exonic MYADML rs10196645 0.751597 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic MYADML MYADML(uc002rpb.3:c.*592A>G) ENSG00000239649 Na Na Na Na Na Na Het;T>C 1391;71|50 Het;T>C 1302;59|44 Hom;T>C 2139;0|57 N N - 2 33952055 33952055 C G snp ncRNA_exonic MYADML rs2290101 0.66893 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic MYADML MYADML(uc002rpb.3:c.*50G>C) ENSG00000239649 Na Na Na Na Na Na Het;C>G 1066;50|40 Het;C>G 1341;58|53 Hom;C>G 3109;0|108 N N - 2 33952621 33952621 G A snp synonymous SNV C222T Y74Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic MYADML rs11684598 0.444888 0 0.4990 1 0 0 ncRNA_exonic exonic ncRNA_exonic MYADML MYADML ENSG00000239649 Na synonymous SNV Na Na MYADML:uc002rpb.3:exon1:c.C222T:p.Y74Y, Na Het;G>A 4010;156|165 Het;G>A 3872;153|172 Hom;G>A 7058;2|252 N N - 2 33953186 33953186 C T snp ncRNA_exonic MYADML rs7574695 0.443091 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic MYADML MYADML(uc002rpb.3:c.-344G>A) ENSG00000239649 Na Na Na Na Na Na Het;C>T 4086;166|175 Het;C>T 2578;159|121 Hom;C>T 8324;0|299 N N - 2 3469463 3469463 G C snp synonymous SNV G1773C L591L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs4971514 0.415335 0.4300 0.4017 1 0 0 exonic exonic exonic TRAPPC12 TRAPPC12 ENSG00000171853 synonymous SNV synonymous SNV unknown TRAPPC12:NM_016030:exon9:c.G1773C:p.L591L, TRAPPC12:uc002qxm.1:exon9:c.G1773C:p.L591L,TRAPPC12:uc002qxn.1:exon9:c.G1773C:p.L591L,TRAPPC12:uc010ewm.1:exon8:c.G1791C:p.L597L, UNKNOWN Het;G>C 647;29|31 Ref Hom;G>C 1395;0|53 N N - 2 3481637 3481637 T C snp intronic TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs4535074 0.487819 0 0 1 0 0 intronic intronic intronic TRAPPC12 TRAPPC12 ENSG00000171853 Na Na Na Na Na Na Het;T>C 329;10|14 Ref Hom;T>C 761;0|27 N N - 2 3481659 3481659 G A snp intronic TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs4321399 0.430312 0 0 1 0 0 intronic intronic intronic TRAPPC12 TRAPPC12 ENSG00000171853 Na Na Na Na Na Na Het;G>A 238;9|10 Ref Hom;G>A 293;0|10 N N - 2 3481716 3481716 T C snp intronic TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs4535075 0.48742 0 0 1 0 0 intronic intronic intronic TRAPPC12 TRAPPC12 ENSG00000171853 Na Na Na Na Na Na Het;T>C 160;3|6 Ref Hom;T>C 137;0|4 N N - 2 3482796 3482796 T G snp intronic TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs11890651 0.361821 0 0 1 0 0 intronic intronic intronic TRAPPC12 TRAPPC12 ENSG00000171853 Na Na Na Na Na Na Het;T>G 237;8|8 Ref Hom;T>G 251;0|8 N N - 2 3482912 3482912 G A snp intronic TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs13431788 0.288538 0 0 1 0 0 intronic intronic intronic TRAPPC12 TRAPPC12 ENSG00000171853 Na Na Na Na Na Na Het;G>A 322;15|12 Ref Hom;G>A 523;0|15 N N - 2 3483205 3483205 C T snp synonymous SNV C2181T F727F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs6767 0.485423 0.4453 0.4213 1 0 0 exonic exonic exonic TRAPPC12 TRAPPC12 ENSG00000171853 synonymous SNV synonymous SNV unknown TRAPPC12:NM_016030:exon12:c.C2181T:p.F727F, TRAPPC12:uc002qxm.1:exon12:c.C2181T:p.F727F,TRAPPC12:uc002qxn.1:exon12:c.C2181T:p.F727F, UNKNOWN Het;C>T 2144;89|96 Ref Hom;C>T 5059;0|182 N N - 2 3492747 3492747 T C snp intergenic TRAPPC12 Trappc12 ENSG00000274891 trafficking protein particle complex 12 chr2:3383446-3488865 Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC12 https://hpo.jax.org/app/browse/search?q=TRAPPC12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614139 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC12&submit=Quick%0D%21222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC12 rs12619851 0.540935 0 0 1 0 0 intergenic intergenic intergenic TRAPPC12(dist=9405),ADI1(dist=8943) TRAPPC12(dist=3890),ADI1(dist=8943) ENSG00000171853(dist=3882),ENSG00000271868(dist=7980) Na Na Na Na Na Na Het;T>C 41;3|3 Ref Hom;T>C 107;0|5 N N - 2 34947118 34947118 T C snp ncRNA_exonic LINC01320 rs3731951 0.192692 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01320 Mir_548(dist=318296),LOC100288911(dist=1634774) ENSG00000228262 Na Na Na Na Na Na Het;T>C 3335;114|135 Het;T>C 2655;98|114 Hom;T>C 6684;2|250 N N - 2 34947517 34947517 T C snp ncRNA_exonic LINC01320 rs57625673 0.145767 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01320 Mir_548(dist=318695),LOC100288911(dist=1634375) ENSG00000228262 Na Na Na Na Na Na Het;T>C 2135;66|92 Het;T>C 1600;79|74 Hom;T>C 4518;6|171 N N - 2 34947642 34947642 C T snp downstream LINC01320 rs55706342 0.146765 0 0 1 0 0 downstream intergenic ncRNA_intronic LINC01320 Mir_548(dist=318820),LOC100288911(dist=1634250) ENSG00000228262 Na Na Na Na Na Na Het;C>T 438;15|14 Het;C>T 257;13|9 Hom;C>T 665;1|22 N N - 2 35397642 35397642 G C snp ncRNA_intronic AC012593.1 rs13387395 0.199481 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC01320(dist=450012),LOC100288911(dist=1184250) Mir_548(dist=768820),LOC100288911(dist=1184250) ENSG00000226994 Na Na Na Na Na Na Het;G>C 82;4|5 Het;G>C 84;3|5 Hom;G>C 170;0|8 N N - 2 35846614 35846614 T C snp intergenic LINC01320 rs7591386 0.898363 0 0 1 0 0 intergenic intergenic intergenic LINC01320(dist=898984),LOC100288911(dist=735278) Mir_548(dist=1217792),LOC100288911(dist=735278) ENSG00000229013(dist=149707),ENSG00000234587(dist=103211) Na Na Na Na Na Na Het;T>C 88;16|6 Het;T>C 146;13|9 Hom;T>C 498;0|20 N N - 2 35846658 35846658 G A snp intergenic LINC01320 rs7577623 0.890575 0 0 1 0 0 intergenic intergenic intergenic LINC01320(dist=899028),LOC100288911(dist=735234) Mir_548(dist=1217836),LOC100288911(dist=735234) ENSG00000229013(dist=149751),ENSG00000234587(dist=103167) Na Na Na Na Na Na Het;G>A 144;15|10 Het;G>A 121;17|8 Hom;G>A 826;0|33 N N - 2 37234519 37234519 T C snp UTR3 *1158A>G HEATR5B Heatr5b ENSG00000008869 HEAT repeat containing 5B chr2:37195526-37311485 Heart Function Tests; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/HEATR5B https://www.uniprot.org/uniprot/Q9P2D3 http://www.informatics.jax.org/searchtool/Search.do?query=HEATR5B&submit=Quick%0D%491ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HEATR5B rs2013223 0.66893 0 0 1 0 0 intronic UTR3 intronic HEATR5B HEATR5B(uc002rpq.4:c.*1158A>G) ENSG00000008869 Na Na Na Na Na Na Het;T>C 43;3|2 Ref Hom;T>C 248;0|7 N N - 2 38056735 38056735 C G snp ncRNA_exonic LINC00211 rs4143263 0.799121 0 0 1 0 0 ncRNA_exonic upstream ncRNA_intronic LINC00211 AK057187 ENSG00000237803 Na Na Na Na Na Na Het;C>G 1379;80|59 Het;C>G 942;86|47 Hom;C>G 3463;2|125 N N - 2 38056951 38056951 G A snp upstream AK057187 rs4143265 0.800519 0 0 1 0 0 ncRNA_intronic upstream ncRNA_intronic LINC00211 AK057187 ENSG00000237803 Na Na Na Na Na Na Het;G>A 259;15|12 Het;G>A 233;10|10 Hom;G>A 747;0|23 N N - 2 38092576 38092576 C G snp ncRNA_intronic LINC00211 rs1549719 0.419129 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC00211 AK057187(dist=36035),RMDN2(dist=59886) ENSG00000237803 Na Na Na Na Na Na Het;C>G 242;4|10 Het;C>G 128;11|5 Hom;C>G 610;0|22 N N - 2 38177525 38177525 A C snp ncRNA_exonic RMDN2-AS1 rs11687301 0.342851 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RMDN2-AS1 RMDN2-AS1 ENSG00000235848 Na Na Na Na Na Na Het;A>C 1151;44|44 Het;A>C 1193;69|55 Hom;A>C 4923;2|171 N N - 2 38178406 38178406 A G snp synonymous SNV A48G R16R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) RMDN2 Rmdn2 ENSG00000115841 regulator of microtubule dynamics 2 chr2:38150330-38294285 Tobacco Use Disorder; lung cancer; bladder cancer; Erectile Dysfunction; lung cancer ; normal variation; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RMDN2 https://www.uniprot.org/uniprot/Q96LZ7 https://www.ncbi.nlm.nih.gov/omim/?term=611872 http://www.informatics.jax.org/searchtool/Search.do?query=RMDN2&submit=Quick%0D%4666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RMDN2 rs4670799 0.328275 0.4108 0.4304 1 0 0 exonic exonic exonic RMDN2 RMDN2 ENSG00000115841 synonymous SNV synonymous SNV unknown RMDN2:NM_144713:exon2:c.A48G:p.R16R, RMDN2:uc002rqn.2:exon2:c.A48G:p.R16R, UNKNOWN Het;A>G 487;32|24 Het;A>G 591;39|27 Hom;A>G 1621;0|55 N N - 2 38190209 38190209 A G snp ncRNA_intronic RMDN2-AS1 rs11680050 0.317692 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic RMDN2-AS1 RMDN2-AS1 ENSG00000235848 Na Na Na Na Na Na Het;A>G 120;5|5 Het;A>G 97;1|4 Hom;A>G 326;0|11 N N - 2 38190271 38190271 C T snp ncRNA_exonic RMDN2-AS1 rs11691244 0.322484 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RMDN2-AS1 RMDN2-AS1 ENSG00000235848 Na Na Na Na Na Na Het;C>T 675;9|28 Het;C>T 297;10|12 Hom;C>T 993;0|37 N N - 2 39212637 39212637 T C snp UTR3 *328A>G SOS1 Sos1 ENSG00000115904 SOS Ras/Rac guanine nucleotide exchange factor 1 chr2:39208537-39351486 This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008] coronary spastic angina; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Abnormalities, Multiple|Heart Defects, Congenital|LEOPARD Syndrome|Noonan Syndrome|Skin Abnormalities; Leukemia, Myeloid, Acute; Noonan Syndrome; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; cognitive ability; Glioma|Noonan Syndrome|Turner's phenotype, karyotype normal; Hearing Loss|Noonan Syndrome; Articulation Disorders|Dyslexia, Acquired|Language Disorders|Noonan Syndrome|Turner's phenotype, karyotype normal; Abnormalities, Multiple|Congenital Heart Defects|Craniofacial Abnormalities|Ectodermal Dysplasia|Heart Defects, Congenital|Noonan Syndrome|Syndrome|Turner's phenotype, karyotype normal; Body Mass Index Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000165;MAPK cascade;TAS|GO:0001782;B cell homeostasis;IEA|GO:0001942;hair follicle development;IEA|GO:0002260;lymphocyte homeostasis;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0007165;signal transduction;NAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0007296;vitellogenesis;IEA|GO:0007411;axon guidance;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0033081;regulation of T cell differentiation in thymus;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035264;multicellular organism growth;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042129;regulation of T cell proliferation;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IEA|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0050900;leukocyte migration;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0060021;palate development;IEA|GO:0061029;eyelid development in camera-type eye;IEA|GO:0061384;heart trabecula morphogenesis;IEA|GO:1904693;midbrain morphogenesis;IEA|GO:2000973;regulation of pro-B cell differentiation;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;IEA|GO:0043025;neuronal cell body;IEA GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOS1 https://www.uniprot.org/uniprot/Q07889 https://hpo.jax.org/app/browse/search?q=SOS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182530 http://www.informatics.jax.org/searchtool/Search.do?query=SOS1&submit=Quick%0D%4674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS1 rs1059310 0.523363 0 0 1 0 0 UTR3 UTR3 UTR3 SOS1(NM_005633:c.*328A>G) SOS1(uc002rrj.4:c.*328A>G,uc002rrk.4:c.*328A>G) ENSG00000115904(ENST00000426016:c.*328A>G,ENST00000402219:c.*328A>G) Na Na Na Na Na Na Het;T>C 1384;43|64 Het;T>C 1221;57|62 Hom;T>C 3412;0|124 N N - 2 4006221 4006221 G C snp ncRNA_exonic LINC01304 rs12475127 0.493011 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01304 LOC100505964 ENSG00000237401 Na Na Na Na Na Na Het;G>C 1772;75|71 Ref Hom;G>C 3919;0|140 N N - 2 4006424 4006424 A G snp ncRNA_exonic LINC01304 rs12464708 0.336262 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01304 LOC100505964 ENSG00000237401 Na Na Na Na Na Na Het;A>G 1433;66|61 Ref Hom;A>G 2842;0|102 N N - 2 40249980 40249980 C G snp ncRNA_intronic SLC8A1-AS1 rs13010575 0.963059 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic SLC8A1-AS1 SLC8A1-AS1 ENSG00000227028 Na Na Na Na Na Na Het;C>G 122;8|7 Het;C>G 127;3|6 Hom;C>G 331;0|11 N N - 2 40857529 40857529 A G snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs2373899 0.3748 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=117954),LOC388942(dist=1247166) SLC8A1(dist=117954),Mir_584(dist=702264) ENSG00000183023(dist=19336),ENSG00000233128(dist=116098) Na Na Na Na Na Na Het;A>G 97;15|7 Het;A>G 228;12|11 Hom;A>G 612;0|24 N N - 2 41007470 41007470 G A snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs11686637 0.359824 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=267895),LOC388942(dist=1097225) SLC8A1(dist=267895),Mir_584(dist=552323) ENSG00000233128(dist=12878),ENSG00000237442(dist=363450) Na Na Na Na Na Na Het;G>A 224;13|12 Het;G>A 1070;31|46 Hom;G>A 2887;0|104 N N - 2 41207512 41207512 G C snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs62140108 0.192492 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=467937),LOC388942(dist=897183) SLC8A1(dist=467937),Mir_584(dist=352281) ENSG00000233128(dist=212920),ENSG00000237442(dist=163408) Na Na Na Na Na Na Het;G>C 1257;28|50 Het;G>C 806;29|38 Hom;G>C 2382;0|85 N N - 2 41257489 41257489 A G snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs12995653 0.210663 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=517914),LOC388942(dist=847206) SLC8A1(dist=517914),Mir_584(dist=302304) ENSG00000233128(dist=262897),ENSG00000237442(dist=113431) Na Na Na Na Na Na Het;A>G 323;17|19 Het;A>G 403;22|19 Hom;A>G 977;3|43 N N - 2 41307304 41307304 G GTATATATAAATA indel intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs70959437 0.48742 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=567729),LOC388942(dist=797391) SLC8A1(dist=567729),Mir_584(dist=252489) ENSG00000233128(dist=312712),ENSG00000237442(dist=63616) Na Na Na Na Na Na Het;+TATATATAAATA 80;3|2 Het;+TATATATAAATA 83;2|3 Hom;+TATATATAAATA 177;0|3 N N - 2 41307504 41307504 G C snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs13027263 0.215455 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=567929),LOC388942(dist=797191) SLC8A1(dist=567929),Mir_584(dist=252289) ENSG00000233128(dist=312912),ENSG00000237442(dist=63416) Na Na Na Na Na Na Het;G>C 287;33|17 Het;G>C 1003;73|53 Hom;G>C 3725;0|129 N N - 2 41307532 41307532 A G snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs2194441 0.504792 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=567957),LOC388942(dist=797163) SLC8A1(dist=567957),Mir_584(dist=252261) ENSG00000233128(dist=312940),ENSG00000237442(dist=63388) Na Na Na Na Na Na Het;A>G 131;26|10 Het;A>G 643;60|33 Hom;A>G 2514;0|86 N N - 2 41457346 41457346 C T snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs10190291 0.709864 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=717771),LOC388942(dist=647349) SLC8A1(dist=717771),Mir_584(dist=102447) ENSG00000237442(dist=72651),ENSG00000221372(dist=366180) Na Na Na Na Na Na Het;C>T 1002;9|26 Het;C>T 520;15|15 Hom;C>T 1859;0|43 N N - 2 41457348 41457348 A G snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs10166492 0.734026 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=717773),LOC388942(dist=647347) SLC8A1(dist=717773),Mir_584(dist=102445) ENSG00000237442(dist=72653),ENSG00000221372(dist=366178) Na Na Na Na Na Na Het;A>G 1002;9|24 Het;A>G 520;15|15 Hom;A>G 1859;0|40 N N - 2 41757447 41757447 A G snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs4985349 0.830871 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=1017872),LOC388942(dist=347248) Mir_584(dist=197532),Y_RNA(dist=326964) ENSG00000237442(dist=372752),ENSG00000221372(dist=66079) Na Na Na Na Na Na Het;A>G 283;16|14 Ref Hom;A>G 815;0|33 N N - 2 41757557 41757557 G C snp intergenic SLC8A1 Slc8a1 ENSG00000183023 solute carrier family 8 member A1 chr2:40324410-40838193 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] hypertension; Hyperparathyroidism, Secondary; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder; Cardiovascular Diseases Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. Ion homeostasis GO:0001666;response to hypoxia;IEA|GO:0002026;regulation of the force of heart contraction;IC|GO:0002027;regulation of heart rate;ISS|GO:0002028;regulation of sodium ion transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006883;cellular sodium ion homeostasis;IDA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010763;positive regulation of fibroblast migration;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;ISS|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;TAS|GO:0014829;vascular smooth muscle contraction;ISS|GO:0021537;telencephalon development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0033198;response to ATP;IEA|GO:0035725;sodium ion transmembrane transport;IGI|GO:0035902;response to immobilization stress;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0044557;relaxation of smooth muscle;ISS|GO:0051481;negative regulation of cytosolic calcium ion concentration;ISS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055013;cardiac muscle cell development;ISS|GO:0055074;calcium ion homeostasis;ISS|GO:0055085;transmembrane transport;IEA|GO:0055119;relaxation of cardiac muscle;IC|GO:0060048;cardiac muscle contraction;TAS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060401;cytosolic calcium ion transport;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IGI|GO:0071313;cellular response to caffeine;ISS|GO:0071320;cellular response to cAMP;IEA|GO:0071436;sodium ion export;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0086012;membrane depolarization during cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;ISS|GO:0097369;sodium ion import;IDA|GO:0098735;positive regulation of the force of heart contraction;IMP|GO:1903779;regulation of cardiac conduction;TAS GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014704;intercalated disc;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;ISS|GO:0042383;sarcolemma;ISS|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005432;calcium:sodium antiporter activity;TAS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008092;cytoskeletal protein binding;IDA|GO:0015297;antiporter activity;IEA|GO:0030506;ankyrin binding;IPI|GO:0044325;ion channel binding;ISS|GO:0046872;metal ion binding;IEA|GO:0099580;ion antiporter activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC8A1 https://www.ncbi.nlm.nih.gov/omim/?term=182305 http://www.informatics.jax.org/searchtool/Search.do?query=SLC8A1&submit=Quick%0D%14903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC8A1 rs4985348 0.254992 0 0 1 0 0 intergenic intergenic intergenic SLC8A1(dist=1017982),LOC388942(dist=347138) Mir_584(dist=197642),Y_RNA(dist=326854) ENSG00000237442(dist=372862),ENSG00000221372(dist=65969) Na Na Na Na Na Na Het;G>C 150;5|6 Ref Hom;G>C 336;0|12 N N - 2 42326727 42326727 T C snp intergenic PKDCC Pkdcc ENSG00000162878 protein kinase domain containing, cytoplasmic chr2:42275160-42285668 Parkinson Disease; atopy; C-Reactive Protein; Varicose Veins; Nonalcoholic Fatty Liver Disease Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body. GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006810;transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0015031;protein transport;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0030154;cell differentiation;IEA|GO:0030282;bone mineralization;IEA|GO:0030501;positive regulation of bone mineralization;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042997;negative regulation of Golgi to plasma membrane protein transport;IEA|GO:0048286;lung alveolus development;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0060021;palate development;IEA GO:0005576;extracellular region;IEA|GO:0005794;Golgi apparatus;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKDCC https://www.ncbi.nlm.nih.gov/omim/?term=614150 http://www.informatics.jax.org/searchtool/Search.do?query=PKDCC&submit=Quick%0D%10819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKDCC rs57102780 0.0539137 0 0 1 0 0 intergenic intergenic intergenic PKDCC(dist=41059),LOC102723824(dist=42848) PKDCC(dist=41059),EML4(dist=69763) ENSG00000162878(dist=41059),ENSG00000224875(dist=43651) Na Na Na Na Na Na Het;T>C 81;2|4 Ref Hom;T>C 215;0|6 N N - 2 42990336 42990336 T G snp synonymous SNV A984C R328R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) OXER1 ENSG00000162881 oxoeicosanoid receptor 1 chr2:42989642-42991401 ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms G alpha (i) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/OXER1 http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1 rs1992286 0.780152 0.6605 0.6475 1 0 0 exonic exonic exonic OXER1 OXER1 ENSG00000162881 synonymous SNV synonymous SNV unknown OXER1:NM_148962:exon1:c.A984C:p.R328R, OXER1:uc002rss.3:exon1:c.A984C:p.R328R, UNKNOWN Het;T>G 2108;61|81 Het;T>G 1652;87|72 Hom;T>G 4809;0|163 N N - 2 42997614 42997614 G A snp UTR3 *15C>T HAAO Haao ENSG00000162882 3-hydroxyanthranilate 3,4-dioxygenase chr2:42994229-43019733 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism. Tryptophan catabolism GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAAO https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604521 http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO rs2241850 0.408746 0.3084 0.4269 1 0 0 intronic UTR3 intronic HAAO HAAO(uc010ynw.1:c.*15C>T) ENSG00000162882 Na Na Na Na Na Na Het;G>A 1027;45|46 Het;G>A 1081;36|48 Hom;G>A 2172;0|79 N N - 2 43256882 43256882 A G snp ncRNA_exonic LOC102723854 rs6723972 0.501398 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC102723854 Mir_548(dist=164193),ZFP36L2(dist=192659) ENSG00000231826 Na Na Na Na Na Na Het;A>G 584;29|26 Het;A>G 187;36|11 Hom;A>G 550;0|19 N N - 2 43263805 43263805 T G snp ncRNA_intronic LOC102723854 rs7588142 0.666334 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102723854 Mir_548(dist=171116),ZFP36L2(dist=185736) ENSG00000231826 Na Na Na Na Na Na Het;T>G 309;29|17 Het;T>G 278;22|14 Hom;T>G 685;0|26 N N - 2 43903354 43903354 T C snp synonymous SNV A108G Q36Q polar,hydrophilic,neutral polar,hydrophilic,neutral LOC728819 rs4952675 0.502596 0.6718 0.6154 1 0 0 exonic exonic ncRNA_exonic LOC728819 LOC728819 ENSG00000223658 synonymous SNV synonymous SNV Na LOC728819:NM_001101330:exon1:c.A108G:p.Q36Q, LOC728819:uc010fav.1:exon1:c.A108G:p.Q36Q, Na Het;T>C 1952;100|81 Het;T>C 1196;88|54 Hom;T>C 4542;0|164 N N - 2 44209477 44209477 C T snp synonymous SNV G246A Q82Q polar,hydrophilic,neutral polar,hydrophilic,neutral LRPPRC Lrpprc ENSG00000138095 leucine rich pentatricopeptide repeat containing chr2:44113647-44223144 This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012] Body Weight; Glucose; Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism Mice homozygous for a gene trap allele exhibit embryonic lethality during organogenesis associated with growth retardation. Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and embryo turning. Respiratory electron transport GO:0000961;negative regulation of mitochondrial RNA catabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0009451;RNA modification;IBA|GO:0047497;mitochondrion transport along microtubule;TAS|GO:0051028;mRNA transport;IEA|GO:0070129;regulation of mitochondrial translation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0000794;condensed nuclear chromosome;IDA|GO:0005634;nucleus;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004519;endonuclease activity;IBA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;TAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0048487;beta-tubulin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRPPRC https://www.uniprot.org/uniprot/P42704 https://hpo.jax.org/app/browse/search?q=LRPPRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607544 http://www.informatics.jax.org/searchtool/Search.do?query=LRPPRC&submit=Quick%0D%7672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRPPRC rs6741066 0.503994 0.7243 0.6240 1 0 0 exonic exonic exonic LRPPRC LRPPRC ENSG00000138095 synonymous SNV synonymous SNV unknown LRPPRC:NM_133259:exon2:c.G246A:p.Q82Q, LRPPRC:uc002rtr.2:exon2:c.G246A:p.Q82Q,LRPPRC:uc010faw.1:exon2:c.G168A:p.Q56Q, UNKNOWN Het;C>T 549;69|33 Het;C>T 950;45|45 Hom;C>T 2173;0|83 N N - 2 44372909 44372909 G T snp intergenic LRPPRC Lrpprc ENSG00000138095 leucine rich pentatricopeptide repeat containing chr2:44113647-44223144 This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012] Body Weight; Glucose; Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism Mice homozygous for a gene trap allele exhibit embryonic lethality during organogenesis associated with growth retardation. Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and embryo turning. Respiratory electron transport GO:0000961;negative regulation of mitochondrial RNA catabolic process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0009451;RNA modification;IBA|GO:0047497;mitochondrion transport along microtubule;TAS|GO:0051028;mRNA transport;IEA|GO:0070129;regulation of mitochondrial translation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0000794;condensed nuclear chromosome;IDA|GO:0005634;nucleus;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005654;nucleoplasm;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005856;cytoskeleton;IDA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0042645;mitochondrial nucleoid;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004519;endonuclease activity;IBA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;TAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0048487;beta-tubulin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRPPRC https://www.uniprot.org/uniprot/P42704 https://hpo.jax.org/app/browse/search?q=LRPPRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607544 http://www.informatics.jax.org/searchtool/Search.do?query=LRPPRC&submit=Quick%0D%7672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRPPRC rs10166397 0.705671 0 0 1 0 0 intergenic intergenic intergenic LRPPRC(dist=149765),PPM1B(dist=23033) LRPPRC(dist=149765),PPM1B(dist=23091) ENSG00000219391(dist=79616),ENSG00000252599(dist=9019) Na Na Na Na Na Na Het;G>T 66;2|3 Het;G>T 69;2|3 Hom;G>T 120;0|4 N N - 2 44393532 44393532 A G snp ncRNA_exonic PDSS1P2 rs7593987 0.779353 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRPPRC(dist=170388),PPM1B(dist=2410) LRPPRC(dist=170388),PPM1B(dist=2468) ENSG00000224637 Na Na Na Na Na Na Het;A>G 85;4|4 Ref Hom;A>G 57;1|3 N N - 2 44508835 44508835 G A snp intronic SLC3A1 Slc3a1 ENSG00000138079 solute carrier family 3 member 1 chr2:44502599-44548633 This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] glycogen storage disease; longevity; cystinuria; Cystinuria; Cardiomyopathy, Hypertrophic|Hypertension|Hypertrophic Cardiomyopathy Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I. Amino acid transport across the plasma membrane GO:0003333;amino acid transmembrane transport;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015802;basic amino acid transport;TAS|GO:0015811;L-cystine transport;TAS|GO:1990822;basic amino acid transmembrane transport;IEA GO:0005743;mitochondrial inner membrane;IEA|GO:0005774;vacuolar membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015174;basic amino acid transmembrane transporter activity;TAS|GO:0015184;L-cystine transmembrane transporter activity;TAS|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC3A1 https://www.uniprot.org/uniprot/Q07837 https://hpo.jax.org/app/browse/search?q=SLC3A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=104614 http://www.informatics.jax.org/searchtool/Search.do?query=SLC3A1&submit=Quick%0D%7666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC3A1 rs11124986 0.557508 0 0 1 0 0 intronic intronic intronic SLC3A1 SLC3A1 ENSG00000138079 Na Na Na Na Na Na Het;G>A 120;9|5 Het;G>A 96;6|5 Hom;G>A 292;0|9 N N - 2 44570776 44570776 C T snp intronic PREPL Prepl ENSG00000138078 prolyl endopeptidase-like chr2:44543420-44589001 The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] HYPOTONIA-CYSTINURIA SYNDROME; CYSTINURIA WITH MITOCHONDRIAL DISEASE; HOMOZYGOUS 2p16 DELETION SYNDROME FORMERLYHOMOZYGOUS 2p21 DELETION SYNDROME INCLUDED Mice homozygous for a knock-out allele exhibit impaired growth and neonatal hypotonia. GO:0006508;proteolysis;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IBA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IBA GO:0004252;serine-type endopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0070008;serine-type exopeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PREPL https://www.uniprot.org/uniprot/Q4J6C6 https://hpo.jax.org/app/browse/search?q=PREPL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609557 http://www.informatics.jax.org/searchtool/Search.do?query=PREPL&submit=Quick%0D%7665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PREPL rs17580226 0.615016 0 0 1 0 0 intronic intronic intronic PREPL PREPL ENSG00000138078 Na Na Na Na Na Na Het;C>T 189;1|6 Het;C>T 97;5|4 Hom;C>T 210;0|7 N N - 2 44942384 44942384 C G snp intronic CAMKMT Camkmt ENSG00000143919 calmodulin-lysine N-methyltransferase chr2:44589089-44999731 This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] Triglycerides; Cholesterol, LDL; Hematocrit; Hemoglobins; Tobacco Use Disorder; Bipolar Disorder; Alcoholism Mice homozygous for a knock-out allele exhibit reduced body weight, reduced muscle strength and altered somatosensory development and brain function. Protein methylation GO:0006479;protein methylation;TAS|GO:0007005;mitochondrion organization;IEA|GO:0018022;peptidyl-lysine methylation;IEA|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0032259;methylation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018025;calmodulin-lysine N-methyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CAMKMT https://www.uniprot.org/uniprot/Q7Z624 https://hpo.jax.org/app/browse/search?q=CAMKMT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609559 http://www.informatics.jax.org/searchtool/Search.do?query=CAMKMT&submit=Quick%0D%8535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMKMT rs343957 0.783546 0.7010 0.6814 1 0 0 intronic intronic intronic CAMKMT CAMKMT ENSG00000143919 Na Na Na Na Na Na Het;C>G 368;9|17 Het;C>G 209;30|12 Hom;C>G 871;0|31 N N - 2 44981119 44981119 T G snp intronic CAMKMT Camkmt ENSG00000143919 calmodulin-lysine N-methyltransferase chr2:44589089-44999731 This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] Triglycerides; Cholesterol, LDL; Hematocrit; Hemoglobins; Tobacco Use Disorder; Bipolar Disorder; Alcoholism Mice homozygous for a knock-out allele exhibit reduced body weight, reduced muscle strength and altered somatosensory development and brain function. Protein methylation GO:0006479;protein methylation;TAS|GO:0007005;mitochondrion organization;IEA|GO:0018022;peptidyl-lysine methylation;IEA|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0032259;methylation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0018025;calmodulin-lysine N-methyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CAMKMT https://www.uniprot.org/uniprot/Q7Z624 https://hpo.jax.org/app/browse/search?q=CAMKMT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609559 http://www.informatics.jax.org/searchtool/Search.do?query=CAMKMT&submit=Quick%0D%8535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMKMT rs3738980 0.303514 0 0 1 0 0 intronic intronic intronic CAMKMT CAMKMT ENSG00000143919 Na Na Na Na Na Na Het;T>G 284;15|11 Het;T>G 281;19|13 Hom;T>G 666;0|23 N N - 2 45170153 45170153 G A snp intronic SIX3 Six3 ENSG00000138083 SIX homeobox 3 chr2:45168902-45173216 This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009] Cleft Lip|Cleft Palate; Alcoholism; Glucose; microphthalmia | coloboma; Holoprosencephaly Mice homozygous for disruptions of this gene die at birth with anterior structures of the head and brain undeveloped. GO:0000060;protein import into nucleus, translocation;IEA|GO:0001654;eye development;IDA|GO:0002070;epithelial cell maturation;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0003404;optic vesicle morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006606;protein import into nucleus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;TAS|GO:0007601;visual perception;TAS|GO:0009946;proximal/distal axis specification;IEA|GO:0014016;neuroblast differentiation;IEA|GO:0021536;diencephalon development;IEA|GO:0021537;telencephalon development;IEA|GO:0021797;forebrain anterior/posterior pattern specification;IEA|GO:0021798;forebrain dorsal/ventral pattern formation;IDA|GO:0021846;cell proliferation in forebrain;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0021983;pituitary gland development;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043010;camera-type eye development;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048512;circadian behavior;IEA|GO:0060235;lens induction in camera-type eye;IEA|GO:0061074;regulation of neural retina development;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0097402;neuroblast migration;IEA|GO:1901987;regulation of cell cycle phase transition;IEA|GO:1902692;regulation of neuroblast proliferation;IEA|GO:1902742;apoptotic process involved in development;IEA|GO:1990086;lens fiber cell apoptotic process;IEA|GO:2000177;regulation of neural precursor cell proliferation;IEA GO:0005634;nucleus;IEA GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0001222;transcription corepressor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0042826;histone deacetylase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIX3 https://www.uniprot.org/uniprot/O95343 https://hpo.jax.org/app/browse/search?q=SIX3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603714 http://www.informatics.jax.org/searchtool/Search.do?query=SIX3&submit=Quick%0D%7669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIX3 rs4953152 0.382987 0 0 1 0 0 intronic intronic intronic SIX3 SIX3 ENSG00000138083 Na Na Na Na Na Na Het;G>A 209;8|8 Het;G>A 210;5|8 Hom;G>A 516;0|16 N N - 2 46901563 46901563 C G snp intergenic CRIPT Cript ENSG00000119878 CXXC repeat containing interactor of PDZ3 domain chr2:46843555-46852881 This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014] Echocardiography; Platelet Aggregation; Body Height; Psychiatric Disorders; several psychiatric disorders; Magnesium Mice homozygous for a transposon induced allele exhibit embryonic lethality at E8. GO:0031122;cytoplasmic microtubule organization;IEA|GO:0035372;protein localization to microtubule;IEA|GO:0045184;establishment of protein localization;IEA|GO:1902897;regulation of postsynaptic density protein 95 clustering;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0030165;PDZ domain binding;IDA|GO:0032403;protein complex binding;IEA|GO:0097110;scaffold protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CRIPT https://www.uniprot.org/uniprot/Q9P021 https://hpo.jax.org/app/browse/search?q=CRIPT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604594 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPT&submit=Quick%0D%5128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPT rs1004147 0.563898 0 0 1 0 0 intergenic intergenic intergenic CRIPT(dist=44248),SOCS5(dist=24536) CRIPT(dist=48682),SOCS5(dist=24536) ENSG00000119878(dist=48682),ENSG00000171150(dist=24528) Na Na Na Na Na Na Het;C>G 277;4|8 Het;C>G 251;2|8 Hom;C>G 177;0|5 N N - 2 46987300 46987300 T G snp UTR3 *20T>G SOCS5 Socs5 ENSG00000171150 suppressor of cytokine signaling 5 chr2:46926091-46990268 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008] Pulmonary Disease, Chronic Obstructive; Neoplasms; diabetes, type 1 Homozygous null mutants are viable and fertile with normal immune system morphology and function. Neddylation GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IDA|GO:0007259;JAK-STAT cascade;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0016049;cell growth;NAS|GO:0016567;protein ubiquitination;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0032715;negative regulation of interleukin-6 production;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0040008;regulation of growth;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045627;positive regulation of T-helper 1 cell differentiation;ISS|GO:0045629;negative regulation of T-helper 2 cell differentiation;ISS|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IEA|GO:0097699;vascular endothelial cell response to fluid shear stress;IEA GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004860;protein kinase inhibitor activity;IBA|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SOCS5 https://www.ncbi.nlm.nih.gov/omim/?term=607094 http://www.informatics.jax.org/searchtool/Search.do?query=SOCS5&submit=Quick%0D%12862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOCS5 rs3768720 0.714457 0.7153 0.6674 1 0 0 UTR3 UTR3 UTR3 SOCS5(NM_014011:c.*20T>G,NM_144949:c.*20T>G) SOCS5(uc002rvf.3:c.*20T>G,uc002rvg.3:c.*20T>G) ENSG00000171150(ENST00000306503:c.*20T>G,ENST00000394861:c.*20T>G) Na Na Na Na Na Na Het;T>G 1092;53|50 Het;T>G 1146;56|54 Hom;T>G 2148;0|76 N N - 2 47249239 47249239 A G snp intronic TTC7A Ttc7 ENSG00000068724 tetratricopeptide repeat domain 7A chr2:47143296-47303276 This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Erectile Dysfunction; Cholesterol; Body Mass Index; Arthritis, Rheumatoid|; Eosinophils Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas. GO:0006879;cellular iron ion homeostasis;IEA|GO:0030097;hemopoiesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IDA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTC7A https://www.uniprot.org/uniprot/Q9ULT0 https://hpo.jax.org/app/browse/search?q=TTC7A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609332 http://www.informatics.jax.org/searchtool/Search.do?query=TTC7A&submit=Quick%0D%1293ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC7A rs3814036 0.40595 0 0 1 0 0 intronic intronic intronic TTC7A TTC7A ENSG00000068724 Na Na Na Na Na Na Het;A>G 960;51|40 Het;A>G 606;40|29 Hom;A>G 1295;0|46 N N - 2 47601106 47601106 T C snp nonsynonymous SNV T344C M115T hydrophobic,neutral polar,hydrophilic,neutral EPCAM Epcam ENSG00000119888 epithelial cell adhesion molecule chr2:47572297-47614740 This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008] ovarian cancer Homozygous null mice display embryonic lethality during organogenesis with decreased embryo size, impaired labyrinth layer development and decreased number of trophoblast giant cells. Mice homozygous for another knock-out allele exhibit impaired intestinal tight junctions with lethality. Cell surface interactions at the vascular wall GO:0001657;ureteric bud development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048863;stem cell differentiation;IMP|GO:0050900;leukocyte migration;TAS|GO:0098742;cell-cell adhesion via plasma-membrane adhesion molecules;IEA|GO:2000048;negative regulation of cell-cell adhesion mediated by cadherin;IDA|GO:2000147;positive regulation of cell motility;IEA|GO:2000648;positive regulation of stem cell proliferation;IMP GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0005923;bicellular tight junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA|GO:0098641;cadherin binding involved in cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPCAM https://www.uniprot.org/uniprot/P16422 https://hpo.jax.org/app/browse/search?q=EPCAM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=185535 http://www.informatics.jax.org/searchtool/Search.do?query=EPCAM&submit=Quick%0D%5129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPCAM rs1126497 0.666134 0.5667 0.5198 0.15 2 13 exonic exonic exonic EPCAM EPCAM ENSG00000119888 nonsynonymous SNV nonsynonymous SNV unknown EPCAM:NM_002354:exon3:c.T344C:p.M115T, EPCAM:uc002rvx.3:exon3:c.T344C:p.M115T, UNKNOWN Het;T>C 1362;64|61 Het;T>C 1097;56|57 Hom;T>C 4352;2|169 N N - 2 47672569 47672569 G A snp intronic MSH2 Msh2 ENSG00000095002 mutS homolog 2 chr2:47630108-47789450 This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genital Neoplasms, Female|Neoplasms; prostate cancer; bladder cancer; Head and Neck Neoplasms; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Recurrence; Melanoma; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Microsatellite Instability; Colorectal Neoplasms, Hereditary Nonpolyposis|Pancreatic Neoplasms; chronic obstructive pulmonary disease; ovarian cancer; lymphoma, non-Hodgkin; non-Hodgkin lymphomas; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms|Neoplasms, Second Primary|Rectal Neoplasms; endometrial cancer; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Neoplasm Recurrence, Local; Pancreatic Neoplasms; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Colorectal Neoplasms|Disease Susceptibility|Gastrointestinal Neoplasms|Stomach Neoplasms; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; colorectal cancer, hereditary nonpolyposis; null; Alcoholism; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; esophageal adenocarcinoma; Carcinoma, Renal Cell|Kidney Neoplasms|Microsatellite Instability; leukemia; Lynch syndrome; Anticipation, Genetic|Colorectal Neoplasms, Hereditary Nonpolyposis; lung cancer ; Adenocarcinoma|Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; stomach cancer; epithelial ovarian cancer ; gastric cancer; Stroke; Colorectal Neoplasms, Hereditary Nonpolyposis; colorectal adenomas; melanoma; colorectal cancer; Colorectal Neoplasms|Neoplasm Recurrence, Local; retinal function; breast cancer; leukemia; lymphoma; non-Hodgkin lymphoma; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer; endometrial cancer; Colorectal Neoplasms; Colonic Neoplasms; stomach cancer; pancreatic cancer; fallopian cancer; Adenocarcinoma|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability; hereditary nonpolyposis colon cancer.; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms; Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|; breast cancer ; Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis|Hereditary Nonpolyposis Colorectal Neoplasms; lung cancer Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors. TP53 Regulates Transcription of DNA Repair Genes GO:0001701;in utero embryonic development;IEA|GO:0002204;somatic recombination of immunoglobulin genes involved in immune response;IEA|GO:0006119;oxidative phosphorylation;IEA|GO:0006281;DNA repair;IDA|GO:0006298;mismatch repair;TAS|GO:0006301;postreplication repair;IDA|GO:0006302;double-strand break repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007281;germ cell development;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0008584;male gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0010165;response to X-ray;IEA|GO:0010224;response to UV-B;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;IEA|GO:0016447;somatic recombination of immunoglobulin gene segments;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0030183;B cell differentiation;IEA|GO:0031573;intra-S DNA damage checkpoint;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0045190;isotype switching;IEA|GO:0045910;negative regulation of DNA recombination;IEA|GO:0048298;positive regulation of isotype switching to IgA isotypes;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0051096;positive regulation of helicase activity;IDA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0032300;mismatch repair complex;IEA|GO:0032301;MutSalpha complex;IDA|GO:0032302;MutSbeta complex;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0000400;four-way junction DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IDA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IEA|GO:0019237;centromeric DNA binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030983;mismatched DNA binding;IEA|GO:0032137;guanine/thymine mispair binding;IMP|GO:0032139;dinucleotide insertion or deletion binding;IDA|GO:0032142;single guanine insertion binding;IDA|GO:0032143;single thymine insertion binding;IDA|GO:0032181;dinucleotide repeat insertion binding;IDA|GO:0032357;oxidized purine DNA binding;IDA|GO:0032405;MutLalpha complex binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043531;ADP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MSH2 https://www.uniprot.org/uniprot/P43246 https://hpo.jax.org/app/browse/search?q=MSH2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609309 http://www.informatics.jax.org/searchtool/Search.do?query=MSH2&submit=Quick%0D%2231ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH2 rs1981929 0.794728 0 0 1 0 0 intronic intronic intronic MSH2 MSH2 ENSG00000095002 Na Na Na Na Na Na Het;G>A 551;21|23 Het;G>A 393;36|21 Hom;G>A 1723;0|59 N N - 2 4853904 4853904 C CAA indel intergenic LINC01249 rs143474520 0 0 0 1 0 0 intergenic intergenic intergenic LINC01249(dist=150092),LINC01248(dist=920369) LOC727982(dist=150092),SOX11(dist=978895) ENSG00000231532(dist=150099),ENSG00000252238(dist=20687) Na Na Na Na Na Na Het;+AA 247;10|11 Ref Hom;+AA 741;0|26 N N - 2 48732944 48732944 A G snp intronic PPP1R21 Ppp1r21 ENSG00000162869 protein phosphatase 1 regulatory subunit 21 chr2:48667737-48742525 GO:0016020;membrane;IDA GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R21 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R21&submit=Quick%0D%10816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R21 rs4293602 0.699081 0 0 1 0 0 intronic intronic intronic PPP1R21 PPP1R21 ENSG00000162869 Na Na Na Na Na Na Het;A>G 204;8|7 Het;A>G 38;3|2 Hom;A>G 171;0|5 N N - 2 48738687 48738687 G C snp intronic PPP1R21 Ppp1r21 ENSG00000162869 protein phosphatase 1 regulatory subunit 21 chr2:48667737-48742525 GO:0016020;membrane;IDA GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R21 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R21&submit=Quick%0D%10816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R21 rs4528813 0.755391 0 0 1 0 0 intronic intronic intronic PPP1R21 PPP1R21 ENSG00000162869 Na Na Na Na Na Na Het;G>C 132;9|6 Het;G>C 137;2|7 Hom;G>C 377;0|13 N N - 2 49003458 49003458 C T snp UTR3 *4C>T STON1-GTF2A1L Ston1 ENSG00000068781 STON1-GTF2A1L readthrough chr2:48757064-49003654 STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010] GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0006367;transcription initiation from RNA polymerase II promoter;IEA|GO:0006897;endocytosis;IEA|GO:1903506;regulation of nucleic acid-templated transcription;IEA GO:0005672;transcription factor TFIIA complex;IBA GO:0003713;transcription coactivator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/STON1-GTF2A1L https://www.uniprot.org/uniprot/A0A0A6YYG5 http://www.informatics.jax.org/searchtool/Search.do?query=STON1-GTF2A1L&submit=Quick%0D%1295ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STON1-GTF2A1L rs62135453 0.171925 0 0.2748 1 0 0 UTR3 UTR3 UTR3 STON1-GTF2A1L(NM_001198593:c.*4C>T) STON1-GTF2A1L(uc021vhf.1:c.*4C>T) ENSG00000068781(ENST00000402114:c.*4C>T) Na Na Na Na Na Na Het;C>T 1149;80|52 Het;C>T 1147;32|53 Hom;C>T 2834;2|110 N N - 2 4903678 4903678 G A snp intergenic LINC01249 rs11687919 0.517572 0 0 1 0 0 intergenic intergenic intergenic LINC01249(dist=199866),LINC01248(dist=870595) LOC727982(dist=199866),SOX11(dist=929121) ENSG00000252238(dist=29004),ENSG00000207192(dist=89189) Na Na Na Na Na Na Het;G>A 197;7|7 Het;G>A 135;7|5 Hom;G>A 343;0|10 N N - 2 4903868 4903868 G A snp intergenic LINC01249 rs11688019 0.514577 0 0 1 0 0 intergenic intergenic intergenic LINC01249(dist=200056),LINC01248(dist=870405) LOC727982(dist=200056),SOX11(dist=928931) ENSG00000252238(dist=29194),ENSG00000207192(dist=88999) Na Na Na Na Na Na Het;G>A 1107;75|54 Het;G>A 1397;60|68 Hom;G>A 3337;2|129 N N - 2 4904015 4904015 T A snp intergenic LINC01249 rs74992889 0.497404 0 0 1 0 0 intergenic intergenic intergenic LINC01249(dist=200203),LINC01248(dist=870258) LOC727982(dist=200203),SOX11(dist=928784) ENSG00000252238(dist=29341),ENSG00000207192(dist=88852) Na Na Na Na Na Na Het;T>A 280;5|8 Het;T>A 125;5|4 Hom;T>A 275;0|8 N N - 2 4904017 4904017 A AAATGTTTT indel intergenic LINC01249 rs111584766 0.514377 0 0 1 0 0 intergenic intergenic intergenic LINC01249(dist=200205),LINC01248(dist=870256) LOC727982(dist=200205),SOX11(dist=928782) ENSG00000252238(dist=29343),ENSG00000207192(dist=88850) Na Na Na Na Na Na Het;+AATGTTTT 271;5|8 Het;+AATGTTTT 116;5|4 Hom;+AATGTTTT 142;0|4 N N - 2 50692560 50692560 A G snp intronic NRXN1 Nrxn1 ENSG00000179915 neurexin 1 chr2:50145643-51259674 This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016] Tobacco Use Disorder; Exploratory Behavior; Platelet Aggregation; Alanine Transaminase; Triglycerides; Erythrocyte Indices; cognitive ability; Longevity; Cholesterol, LDL; Cognitive performance; Alcoholism; Lipids; Schizophrenia; nicotine dependence; Mental Competency; schizophrenia | autism; Lipoproteins; Arthritis, Rheumatoid; smoking; several psychiatric disorders; Diabetic Nephropathies; Breath Tests; Cholesterol, HDL; Autism; Language Development Disorders|Mental Retardation; Blood Pressure; schizophrenia; Cholesterol Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+). Neurexins and neuroligins GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007165;signal transduction;ISS|GO:0007268;chemical synaptic transmission;ISS|GO:0007269;neurotransmitter secretion;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0021707;cerebellar granule cell differentiation;ISS|GO:0023041;neuronal signal transduction;TAS|GO:0030534;adult behavior;IMP|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042297;vocal learning;IMP|GO:0045184;establishment of protein localization;ISS|GO:0050885;neuromuscular process controlling balance;ISS|GO:0051490;negative regulation of filopodium assembly;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060134;prepulse inhibition;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0065009;regulation of molecular function;IEA|GO:0071625;vocalization behavior;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS|GO:0090126;protein complex assembly involved in synapse maturation;ISS|GO:0090129;positive regulation of synapse maturation;ISS|GO:0097091;synaptic vesicle clustering;ISS|GO:0097104;postsynaptic membrane assembly;ISS|GO:0097105;presynaptic membrane assembly;ISS|GO:0097112;gamma-aminobutyric acid receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097116;gephyrin clustering involved in postsynaptic density assembly;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;ISS|GO:0097119;postsynaptic density protein 95 clustering;ISS|GO:0097120;receptor localization to synapse;ISS|GO:1905520;positive regulation of presynaptic active zone assembly;TAS|GO:2000310;regulation of NMDA receptor activity;ISS|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000821;regulation of grooming behavior;IEA GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;ISS|GO:0031965;nuclear membrane;ISS|GO:0031982;vesicle;ISS|GO:0042734;presynaptic membrane;ISS|GO:0043025;neuronal cell body;ISS|GO:0043234;protein complex;IEA|GO:0044295;axonal growth cone;ISS|GO:0045202;synapse;IEA|GO:0099056;integral component of presynaptic membrane;TAS GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005102;receptor binding;ISS|GO:0005246;calcium channel regulator activity;ISS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0033130;acetylcholine receptor binding;ISS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;ISS|GO:0050839;cell adhesion molecule binding;ISS|GO:0097109;neuroligin family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NRXN1 https://hpo.jax.org/app/browse/search?q=NRXN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600565 http://www.informatics.jax.org/searchtool/Search.do?query=NRXN1&submit=Quick%0D%14403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRXN1 rs3213756 0.338059 0.2469 0.3834 1 0 0 intronic intronic intronic NRXN1 NRXN1 ENSG00000179915 Na Na Na Na Na Na Het;A>G 615;24|27 Het;A>G 1363;56|63 Hom;A>G 3790;2|140 N N - 2 52634220 52634220 A G snp ncRNA_exonic AC007402.1 rs2727867 0.54972 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1374546),MIR4431(dist=295440) NRXN1(dist=1374546),ASB3(dist=1262897) ENSG00000231918 Na Na Na Na Na Na Het;A>G 1309;70|57 Het;A>G 1047;58|50 Hom;A>G 3944;0|142 N N - 2 52784952 52784952 T C snp intergenic NRXN1 Nrxn1 ENSG00000179915 neurexin 1 chr2:50145643-51259674 This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016] Tobacco Use Disorder; Exploratory Behavior; Platelet Aggregation; Alanine Transaminase; Triglycerides; Erythrocyte Indices; cognitive ability; Longevity; Cholesterol, LDL; Cognitive performance; Alcoholism; Lipids; Schizophrenia; nicotine dependence; Mental Competency; schizophrenia | autism; Lipoproteins; Arthritis, Rheumatoid; smoking; several psychiatric disorders; Diabetic Nephropathies; Breath Tests; Cholesterol, HDL; Autism; Language Development Disorders|Mental Retardation; Blood Pressure; schizophrenia; Cholesterol Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+). Neurexins and neuroligins GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007158;neuron cell-cell adhesion;TAS|GO:0007165;signal transduction;ISS|GO:0007268;chemical synaptic transmission;ISS|GO:0007269;neurotransmitter secretion;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0021707;cerebellar granule cell differentiation;ISS|GO:0023041;neuronal signal transduction;TAS|GO:0030534;adult behavior;IMP|GO:0035176;social behavior;IMP|GO:0035418;protein localization to synapse;ISS|GO:0042297;vocal learning;IMP|GO:0045184;establishment of protein localization;ISS|GO:0050885;neuromuscular process controlling balance;ISS|GO:0051490;negative regulation of filopodium assembly;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060134;prepulse inhibition;IEA|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0065009;regulation of molecular function;IEA|GO:0071625;vocalization behavior;IMP|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS|GO:0090126;protein complex assembly involved in synapse maturation;ISS|GO:0090129;positive regulation of synapse maturation;ISS|GO:0097091;synaptic vesicle clustering;ISS|GO:0097104;postsynaptic membrane assembly;ISS|GO:0097105;presynaptic membrane assembly;ISS|GO:0097112;gamma-aminobutyric acid receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097116;gephyrin clustering involved in postsynaptic density assembly;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;ISS|GO:0097119;postsynaptic density protein 95 clustering;ISS|GO:0097120;receptor localization to synapse;ISS|GO:1905520;positive regulation of presynaptic active zone assembly;TAS|GO:2000310;regulation of NMDA receptor activity;ISS|GO:2000311;regulation of AMPA receptor activity;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000821;regulation of grooming behavior;IEA GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;ISS|GO:0031965;nuclear membrane;ISS|GO:0031982;vesicle;ISS|GO:0042734;presynaptic membrane;ISS|GO:0043025;neuronal cell body;ISS|GO:0043234;protein complex;IEA|GO:0044295;axonal growth cone;ISS|GO:0045202;synapse;IEA|GO:0099056;integral component of presynaptic membrane;TAS GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005102;receptor binding;ISS|GO:0005246;calcium channel regulator activity;ISS|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0033130;acetylcholine receptor binding;ISS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;ISS|GO:0050839;cell adhesion molecule binding;ISS|GO:0097109;neuroligin family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NRXN1 https://hpo.jax.org/app/browse/search?q=NRXN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600565 http://www.informatics.jax.org/searchtool/Search.do?query=NRXN1&submit=Quick%0D%14403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRXN1 rs12478397 0.169728 0 0 1 0 0 intergenic intergenic intergenic NRXN1(dist=1525278),MIR4431(dist=144708) NRXN1(dist=1525278),ASB3(dist=1112165) ENSG00000236837(dist=57062),ENSG00000204993(dist=12834) Na Na Na Na Na Na Het;T>C 150;7|7 Het;T>C 245;9|8 Hom;T>C 437;0|13 N N - 2 52798341 52798341 G A snp ncRNA_exonic AC139712.1 rs17043082 0.121006 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1538667),MIR4431(dist=131319) NRXN1(dist=1538667),ASB3(dist=1098776) ENSG00000204993 Na Na Na Na Na Na Het;G>A 144;15|6 Ref Hom;G>A 492;0|20 N N - 2 52798358 52798358 G A snp ncRNA_exonic AC139712.1 rs60669340 0.121006 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1538684),MIR4431(dist=131302) NRXN1(dist=1538684),ASB3(dist=1098759) ENSG00000204993 Na Na Na Na Na Na Het;G>A 91;15|5 Ref Hom;G>A 490;0|19 N N - 2 52798377 52798377 G C snp ncRNA_exonic AC139712.1 rs17043083 0.121006 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1538703),MIR4431(dist=131283) NRXN1(dist=1538703),ASB3(dist=1098740) ENSG00000204993 Na Na Na Na Na Na Het;G>C 83;15|4 Ref Hom;G>C 458;0|14 N N - 2 52798628 52798629 CA C indel ncRNA_exonic AC139712.1 rs59466256 0.125399 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1538954),MIR4431(dist=131031) NRXN1(dist=1538954),ASB3(dist=1098488) ENSG00000204993 Na Na Na Na Na Na Het;-A 278;8|10 Het;-A 335;10|12 Hom;-A 587;0|17 N N - 2 52798692 52798692 C CT indel ncRNA_exonic AC139712.1 rs57405814 0.121006 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1539018),MIR4431(dist=130968) NRXN1(dist=1539018),ASB3(dist=1098425) ENSG00000204993 Na Na Na Na Na Na Het;+T 462;8|14 Het;+T 600;12|18 Hom;+T 1021;0|27 N N - 2 52798993 52798993 G A snp ncRNA_exonic AC139712.1 rs17043086 0.121006 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1539319),MIR4431(dist=130667) NRXN1(dist=1539319),ASB3(dist=1098124) ENSG00000204993 Na Na Na Na Na Na Het;G>A 514;14|18 Het;G>A 134;8|6 Hom;G>A 562;0|17 N N - 2 52799281 52799281 A G snp ncRNA_exonic AC139712.1 rs113337072 0.120607 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1539607),MIR4431(dist=130379) NRXN1(dist=1539607),ASB3(dist=1097836) ENSG00000204993 Na Na Na Na Na Na Het;A>G 1233;25|49 Het;A>G 461;30|21 Hom;A>G 1396;0|47 N N - 2 52799612 52799612 G C snp ncRNA_exonic AC139712.1 rs60870297 0.146366 0 0 1 0 0 intergenic intergenic ncRNA_exonic NRXN1(dist=1539938),MIR4431(dist=130048) NRXN1(dist=1539938),ASB3(dist=1097505) ENSG00000204993 Na Na Na Na Na Na Het;G>C 1373;52|55 Het;G>C 613;42|33 Hom;G>C 2414;0|85 N N - 2 52799669 52799669 G A snp downstream AC139712.1 rs58520233 0.146565 0 0 1 0 0 intergenic intergenic downstream NRXN1(dist=1539995),MIR4431(dist=129991) NRXN1(dist=1539995),ASB3(dist=1097448) ENSG00000204993 Na Na Na Na Na Na Het;G>A 777;22|29 Het;G>A 401;17|16 Hom;G>A 834;0|29 N N - 2 52799714 52799714 C A snp downstream AC139712.1 rs57001563 0.146565 0 0 1 0 0 intergenic intergenic downstream NRXN1(dist=1540040),MIR4431(dist=129946) NRXN1(dist=1540040),ASB3(dist=1097403) ENSG00000204993 Na Na Na Na Na Na Het;C>A 503;11|18 Het;C>A 274;8|13 Hom;C>A 296;0|11 N N - 2 52799806 52799806 G T snp downstream AC139712.1 rs12469108 0.146565 0 0 1 0 0 intergenic intergenic downstream NRXN1(dist=1540132),MIR4431(dist=129854) NRXN1(dist=1540132),ASB3(dist=1097311) ENSG00000204993 Na Na Na Na Na Na Het;G>T 89;2|5 Het;G>T 71;3|5 Hom;G>T 99;0|4 N N - 2 53679728 53679728 G A snp intergenic MIR4431 rs1521928 0.36242 0 0 1 0 0 intergenic intergenic intergenic MIR4431(dist=749975),ASB3(dist=217389) NONE(dist=NONE),ASB3(dist=217389) ENSG00000228033(dist=542570),ENSG00000251942(dist=17857) Na Na Na Na Na Na Het;G>A 158;22|6 Het;G>A 80;20|4 Hom;G>A 377;0|9 N N - 2 53679752 53679752 T C snp intergenic MIR4431 rs1521927 0.36262 0 0 1 0 0 intergenic intergenic intergenic MIR4431(dist=749999),ASB3(dist=217365) NONE(dist=NONE),ASB3(dist=217365) ENSG00000228033(dist=542594),ENSG00000251942(dist=17833) Na Na Na Na Na Na Het;T>C 202;27|8 Het;T>C 120;21|6 Hom;T>C 488;0|13 N N - 2 53679783 53679783 T C snp intergenic MIR4431 rs1521926 0.600639 0 0 1 0 0 intergenic intergenic intergenic MIR4431(dist=750030),ASB3(dist=217334) NONE(dist=NONE),ASB3(dist=217334) ENSG00000228033(dist=542625),ENSG00000251942(dist=17802) Na Na Na Na Na Na Het;T>C 103;26|9 Het;T>C 73;20|6 Hom;T>C 410;0|17 N N - 2 53679837 53679837 T C snp intergenic MIR4431 rs7576429 0.36262 0 0 1 0 0 intergenic intergenic intergenic MIR4431(dist=750084),ASB3(dist=217280) NONE(dist=NONE),ASB3(dist=217280) ENSG00000228033(dist=542679),ENSG00000251942(dist=17748) Na Na Na Na Na Na Het;T>C 126;18|8 Het;T>C 75;9|6 Hom;T>C 246;0|9 N N - 2 53779764 53779765 AT A indel intronic ASB3 Asb3 ENSG00000115239 ankyrin repeat and SOCS box containing 3 chr2:53897430-54087297 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB3 https://www.uniprot.org/uniprot/Q9Y575 https://www.ncbi.nlm.nih.gov/omim/?term=605760 http://www.informatics.jax.org/searchtool/Search.do?query=ASB3&submit=Quick%0D%4563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB3 rs35530939 0.545327 0 0 1 0 0 intergenic intergenic intronic MIR4431(dist=850011),ASB3(dist=117352) NONE(dist=NONE),ASB3(dist=117352) ENSG00000115239 Na Na Na Na Na Na Het;-T 94;4|4 Ref Hom;-T 112;0|6 N N - 2 53780101 53780101 A T snp intronic ASB3 Asb3 ENSG00000115239 ankyrin repeat and SOCS box containing 3 chr2:53897430-54087297 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB3 https://www.uniprot.org/uniprot/Q9Y575 https://www.ncbi.nlm.nih.gov/omim/?term=605760 http://www.informatics.jax.org/searchtool/Search.do?query=ASB3&submit=Quick%0D%4563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB3 rs1988026 0.591653 0 0 1 0 0 intergenic intergenic intronic MIR4431(dist=850348),ASB3(dist=117016) NONE(dist=NONE),ASB3(dist=117016) ENSG00000115239 Na Na Na Na Na Na Het;A>T 676;19|26 Het;A>T 273;10|11 Hom;A>T 1189;0|38 N N - 2 54562012 54562012 C A snp nonsynonymous SNV C85A H29N aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral C2orf73 4930505A04Rik ENSG00000177994 chromosome 2 open reading frame 73 chr2:54557171-54610879 http://www.genecards.org/index.php?path=/Search/keyword/C2orf73 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf73&submit=Quick%0D%14118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf73 rs55714450 0.203874 0.2916 0.3304 0.08 1 13 exonic exonic exonic C2orf73 C2orf73 ENSG00000177994 nonsynonymous SNV nonsynonymous SNV unknown C2orf73:NM_001100396:exon2:c.C85A:p.H29N, C2orf73:uc002rxt.1:exon2:c.C85A:p.H29N, UNKNOWN Het;C>A 663;32|33 Het;C>A 817;33|38 Hom;C>A 1805;0|66 N N - 2 54756740 54756740 C T snp synonymous SNV C258T A86A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RPL23AP32 rs1802889 0.739217 0 0.7053 1 0 0 ncRNA_exonic exonic ncRNA_exonic RPL23AP32 RPL23AP32 ENSG00000237887 Na synonymous SNV Na Na RPL23AP32:uc010yot.1:exon1:c.C258T:p.A86A, Na Het;C>T 352;13|14 Het;C>T 205;7|9 Hom;C>T 792;0|28 N N - 2 54839276 54839276 A G snp intronic SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs3796014 0.7502 0.8007 0.7465 1 0 0 intronic intronic intronic SPTBN1 SPTBN1 ENSG00000115306 Na Na Na Na Na Na Het;A>G 544;17|21 Het;A>G 586;11|23 Hom;A>G 743;0|26 N N - 2 54844790 54844790 C T snp synonymous SNV C573T D191D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs2229506 0.113419 0.1435 0.1430 1 0 0 exonic exonic exonic SPTBN1 SPTBN1 ENSG00000115306 synonymous SNV synonymous SNV unknown SPTBN1:NM_178313:exon5:c.C573T:p.D191D,SPTBN1:NM_003128:exon6:c.C612T:p.D204D, SPTBN1:uc002rxu.3:exon6:c.C612T:p.D204D,SPTBN1:uc002rxv.1:exon6:c.C612T:p.D204D,SPTBN1:uc002rxx.3:exon5:c.C573T:p.D191D, UNKNOWN Het;C>T 808;77|43 Het;C>T 828;90|45 Hom;C>T 3016;2|117 N N - 2 54852258 54852258 A T snp intronic SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs4426562 0.121006 0 0 1 0 0 intronic intronic intronic SPTBN1 SPTBN1 ENSG00000115306 Na Na Na Na Na Na Het;A>T 153;15|7 Het;A>T 97;9|5 Hom;A>T 297;0|9 N N - 2 54855137 54855137 T C snp intronic SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs2971887 0.756589 0 0 1 0 0 intronic intronic intronic SPTBN1 SPTBN1 ENSG00000115306 Na Na Na Na Na Na Het;T>C 529;7|16 Het;T>C 185;8|7 Hom;T>C 577;0|18 N N - 2 54884870 54884870 C T snp intronic SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs966003 0.456869 0 0 1 0 0 intronic intronic intronic SPTBN1 SPTBN1 ENSG00000115306 Na Na Na Na Na Na Het;C>T 181;2|6 Het;C>T 104;2|4 Hom;C>T 126;0|4 N N - 2 54894649 54894649 G A snp intronic SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs907136 0.134984 0 0 1 0 0 intronic intronic intronic SPTBN1 SPTBN1 ENSG00000115306 Na Na Na Na Na Na Het;G>A 618;19|22 Het;G>A 309;16|13 Hom;G>A 1053;0|31 N N - 2 54922942 54922942 C T snp intergenic SPTBN1 Sptbn1 ENSG00000115306 spectrin beta, non-erythrocytic 1 chr2:54683422-54896812 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Dengue Hemorrhagic Fever; Osteoporosis; Bone mineral density (spine); Fractures, Bone; HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0000281;mitotic cytokinesis;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007009;plasma membrane organization;IMP|GO:0007010;cytoskeleton organization;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007411;axon guidance;TAS|GO:0043001;Golgi to plasma membrane protein transport;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051693;actin filament capping;IEA|GO:0071709;membrane assembly;IMP|GO:0072661;protein targeting to plasma membrane;IMP|GO:1900042;positive regulation of interleukin-2 secretion;IMP|GO:1903076;regulation of protein localization to plasma membrane;IGI|GO:1903078;positive regulation of protein localization to plasma membrane;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0008091;spectrin;TAS|GO:0014069;postsynaptic density;IEA|GO:0014731;spectrin-associated cytoskeleton;NAS|GO:0016020;membrane;IEA|GO:0030673;axolemma;ISS|GO:0030863;cortical cytoskeleton;IEA|GO:0031430;M band;IEA|GO:0032437;cuticular plate;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005200;structural constituent of cytoskeleton;IMP|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0030506;ankyrin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPTBN1 https://www.uniprot.org/uniprot/Q01082 https://www.ncbi.nlm.nih.gov/omim/?term=182790 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN1&submit=Quick%0D%4581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN1 rs354226 0.709465 0 0 1 0 0 intergenic intergenic intergenic SPTBN1(dist=24359),EML6(dist=29207) SPTBN1(dist=24359),EML6(dist=29207) ENSG00000115306(dist=26130),NONE(dist=NONE) Na Na Na Na Na Na Het;C>T 1043;75|51 Het;C>T 542;95|33 Hom;C>T 2597;0|100 N N - 2 55449318 55449318 T C snp intronic CLHC1 Clhc1 ENSG00000162994 clathrin heavy chain linker domain containing 1 chr2:55401927-55459699 Hand Strength GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLHC1 http://www.informatics.jax.org/searchtool/Search.do?query=CLHC1&submit=Quick%0D%10852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLHC1 rs4435493 0.228035 0 0 1 0 0 intronic intronic intronic CLHC1 CLHC1 ENSG00000162994 Na Na Na Na Na Na Het;T>C 166;1|7 Het;T>C 137;9|6 Hom;T>C 267;0|9 N N - 2 55449464 55449464 T C snp synonymous SNV A84G Q28Q polar,hydrophilic,neutral polar,hydrophilic,neutral CLHC1 Clhc1 ENSG00000162994 clathrin heavy chain linker domain containing 1 chr2:55401927-55459699 Hand Strength GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLHC1 http://www.informatics.jax.org/searchtool/Search.do?query=CLHC1&submit=Quick%0D%10852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLHC1 rs17852670 0.228035 0.1936 0.2159 1 0 0 exonic exonic exonic CLHC1 CLHC1 ENSG00000162994 synonymous SNV synonymous SNV unknown CLHC1:NM_152385:exon3:c.A84G:p.Q28Q, CLHC1:uc002ryi.2:exon3:c.A84G:p.Q28Q, UNKNOWN Het;T>C 746;43|34 Het;T>C 803;68|40 Hom;T>C 3606;0|135 N N - 2 55599810 55599810 C T snp intronic CCDC88A Ccdc88a ENSG00000115355 coiled-coil domain containing 88A chr2:55514978-55647057 This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Monocyte Chemoattractant Protein-1; Insulin Resistance; Glucose; Body Height Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25. GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;IEA|GO:0006275;regulation of DNA replication;IEA|GO:0007399;nervous system development;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016477;cell migration;IMP|GO:0030030;cell projection organization;IEA|GO:0030032;lamellipodium assembly;IMP|GO:0030705;cytoskeleton-dependent intracellular transport;IBA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0031929;TOR signaling;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0045724;positive regulation of cilium assembly;IMP|GO:0061024;membrane organization;IDA|GO:1903566;positive regulation of protein localization to cilium;IMP GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IBA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0031252;cell leading edge;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IDA|GO:0008017;microtubule binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0043422;protein kinase B binding;IPI|GO:0051959;dynein light intermediate chain binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CCDC88A https://www.uniprot.org/uniprot/Q3V6T2 https://hpo.jax.org/app/browse/search?q=CCDC88A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609736 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC88A&submit=Quick%0D%4590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC88A rs10496042 0.322284 0 0 1 0 0 intronic intronic intronic CCDC88A CCDC88A ENSG00000115355 Na Na Na Na Na Na Het;C>T 40;2|2 Ref Hom;C>T 60;0|3 N N - 2 55750738 55750738 T C snp intronic CFAP36 Cfap36 rs3748944 0.126398 0 0 1 0 0 intronic intronic intronic CFAP36 CCDC104 ENSG00000163001 Na Na Na Na Na Na Het;T>C 152;4|5 Het;T>C 143;6|5 Hom;T>C 446;0|12 N N - 2 55867938 55867938 A G snp intronic PNPT1 Pnpt1 ENSG00000138035 polyribonucleotide nucleotidyltransferase 1 chr2:55861400-55921045 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] Metabolism; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; Amyotrophic Lateral Sclerosis; height; Body Weight; Blood Pressure; multiple sclerosis; Height; Heart Failure Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. GO:0000957;mitochondrial RNA catabolic process;IDA|GO:0000958;mitochondrial mRNA catabolic process;IDA|GO:0000962;positive regulation of mitochondrial RNA catabolic process;IDA|GO:0000964;mitochondrial RNA 5'-end processing;IMP|GO:0000965;mitochondrial RNA 3'-end processing;IMP|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0006402;mRNA catabolic process;IEA|GO:0006810;transport;IEA|GO:0034599;cellular response to oxidative stress;IDA|GO:0035458;cellular response to interferon-beta;IDA|GO:0035927;RNA import into mitochondrion;IDA|GO:0035928;rRNA import into mitochondrion;IDA|GO:0043457;regulation of cellular respiration;ISS|GO:0043631;RNA polyadenylation;IDA|GO:0045926;negative regulation of growth;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0060416;response to growth hormone;IEA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0070207;protein homotrimerization;IDA|GO:0070584;mitochondrion morphogenesis;ISS|GO:0071042;nuclear polyadenylation-dependent mRNA catabolic process;IDA|GO:0071850;mitotic cell cycle arrest;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:0097222;mitochondrial mRNA polyadenylation;IMP|GO:0097421;liver regeneration;IEA|GO:2000627;positive regulation of miRNA catabolic process;IDA|GO:2000772;regulation of cellular senescence;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042788;polysomal ribosome;IEA|GO:0045025;mitochondrial degradosome;IDA GO:0000175;3'-5'-exoribonuclease activity;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004654;polyribonucleotide nucleotidyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034046;poly(G) binding;IDA|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PNPT1 https://www.uniprot.org/uniprot/Q8TCS8 https://hpo.jax.org/app/browse/search?q=PNPT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610316 http://www.informatics.jax.org/searchtool/Search.do?query=PNPT1&submit=Quick%0D%7655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPT1 rs34679603 0.333666 0 0 1 0 0 intronic intronic intronic PNPT1 PNPT1 ENSG00000138035 Na Na Na Na Na Na Het;A>G 419;12|15 Het;A>G 326;18|14 Hom;A>G 745;0|20 N N - 2 55870697 55870697 T C snp intronic PNPT1 Pnpt1 ENSG00000138035 polyribonucleotide nucleotidyltransferase 1 chr2:55861400-55921045 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] Metabolism; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; Amyotrophic Lateral Sclerosis; height; Body Weight; Blood Pressure; multiple sclerosis; Height; Heart Failure Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. GO:0000957;mitochondrial RNA catabolic process;IDA|GO:0000958;mitochondrial mRNA catabolic process;IDA|GO:0000962;positive regulation of mitochondrial RNA catabolic process;IDA|GO:0000964;mitochondrial RNA 5'-end processing;IMP|GO:0000965;mitochondrial RNA 3'-end processing;IMP|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0006402;mRNA catabolic process;IEA|GO:0006810;transport;IEA|GO:0034599;cellular response to oxidative stress;IDA|GO:0035458;cellular response to interferon-beta;IDA|GO:0035927;RNA import into mitochondrion;IDA|GO:0035928;rRNA import into mitochondrion;IDA|GO:0043457;regulation of cellular respiration;ISS|GO:0043631;RNA polyadenylation;IDA|GO:0045926;negative regulation of growth;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0060416;response to growth hormone;IEA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0070207;protein homotrimerization;IDA|GO:0070584;mitochondrion morphogenesis;ISS|GO:0071042;nuclear polyadenylation-dependent mRNA catabolic process;IDA|GO:0071850;mitotic cell cycle arrest;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:0097222;mitochondrial mRNA polyadenylation;IMP|GO:0097421;liver regeneration;IEA|GO:2000627;positive regulation of miRNA catabolic process;IDA|GO:2000772;regulation of cellular senescence;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042788;polysomal ribosome;IEA|GO:0045025;mitochondrial degradosome;IDA GO:0000175;3'-5'-exoribonuclease activity;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004654;polyribonucleotide nucleotidyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034046;poly(G) binding;IDA|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PNPT1 https://www.uniprot.org/uniprot/Q8TCS8 https://hpo.jax.org/app/browse/search?q=PNPT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610316 http://www.informatics.jax.org/searchtool/Search.do?query=PNPT1&submit=Quick%0D%7655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPT1 rs13015243 0.129593 0 0 1 0 0 intronic intronic intronic PNPT1 PNPT1 ENSG00000138035 Na Na Na Na Na Na Het;T>C 98;9|4 Het;T>C 238;4|7 Hom;T>C 353;0|9 N N - 2 55887176 55887176 T C snp intronic PNPT1 Pnpt1 ENSG00000138035 polyribonucleotide nucleotidyltransferase 1 chr2:55861400-55921045 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] Metabolism; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; Amyotrophic Lateral Sclerosis; height; Body Weight; Blood Pressure; multiple sclerosis; Height; Heart Failure Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. GO:0000957;mitochondrial RNA catabolic process;IDA|GO:0000958;mitochondrial mRNA catabolic process;IDA|GO:0000962;positive regulation of mitochondrial RNA catabolic process;IDA|GO:0000964;mitochondrial RNA 5'-end processing;IMP|GO:0000965;mitochondrial RNA 3'-end processing;IMP|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0006402;mRNA catabolic process;IEA|GO:0006810;transport;IEA|GO:0034599;cellular response to oxidative stress;IDA|GO:0035458;cellular response to interferon-beta;IDA|GO:0035927;RNA import into mitochondrion;IDA|GO:0035928;rRNA import into mitochondrion;IDA|GO:0043457;regulation of cellular respiration;ISS|GO:0043631;RNA polyadenylation;IDA|GO:0045926;negative regulation of growth;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0060416;response to growth hormone;IEA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0070207;protein homotrimerization;IDA|GO:0070584;mitochondrion morphogenesis;ISS|GO:0071042;nuclear polyadenylation-dependent mRNA catabolic process;IDA|GO:0071850;mitotic cell cycle arrest;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:0097222;mitochondrial mRNA polyadenylation;IMP|GO:0097421;liver regeneration;IEA|GO:2000627;positive regulation of miRNA catabolic process;IDA|GO:2000772;regulation of cellular senescence;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042788;polysomal ribosome;IEA|GO:0045025;mitochondrial degradosome;IDA GO:0000175;3'-5'-exoribonuclease activity;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004654;polyribonucleotide nucleotidyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034046;poly(G) binding;IDA|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PNPT1 https://www.uniprot.org/uniprot/Q8TCS8 https://hpo.jax.org/app/browse/search?q=PNPT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610316 http://www.informatics.jax.org/searchtool/Search.do?query=PNPT1&submit=Quick%0D%7655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPT1 rs7592219 0.335863 0 0 1 0 0 intronic intronic intronic PNPT1 PNPT1 ENSG00000138035 Na Na Na Na Na Na Het;T>C 153;6|5 Ref Hom;T>C 283;0|9 N N - 2 55894090 55894090 A G snp intronic PNPT1 Pnpt1 ENSG00000138035 polyribonucleotide nucleotidyltransferase 1 chr2:55861400-55921045 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] Metabolism; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; Amyotrophic Lateral Sclerosis; height; Body Weight; Blood Pressure; multiple sclerosis; Height; Heart Failure Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. GO:0000957;mitochondrial RNA catabolic process;IDA|GO:0000958;mitochondrial mRNA catabolic process;IDA|GO:0000962;positive regulation of mitochondrial RNA catabolic process;IDA|GO:0000964;mitochondrial RNA 5'-end processing;IMP|GO:0000965;mitochondrial RNA 3'-end processing;IMP|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0006402;mRNA catabolic process;IEA|GO:0006810;transport;IEA|GO:0034599;cellular response to oxidative stress;IDA|GO:0035458;cellular response to interferon-beta;IDA|GO:0035927;RNA import into mitochondrion;IDA|GO:0035928;rRNA import into mitochondrion;IDA|GO:0043457;regulation of cellular respiration;ISS|GO:0043631;RNA polyadenylation;IDA|GO:0045926;negative regulation of growth;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0060416;response to growth hormone;IEA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0070207;protein homotrimerization;IDA|GO:0070584;mitochondrion morphogenesis;ISS|GO:0071042;nuclear polyadenylation-dependent mRNA catabolic process;IDA|GO:0071850;mitotic cell cycle arrest;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:0097222;mitochondrial mRNA polyadenylation;IMP|GO:0097421;liver regeneration;IEA|GO:2000627;positive regulation of miRNA catabolic process;IDA|GO:2000772;regulation of cellular senescence;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042788;polysomal ribosome;IEA|GO:0045025;mitochondrial degradosome;IDA GO:0000175;3'-5'-exoribonuclease activity;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004654;polyribonucleotide nucleotidyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034046;poly(G) binding;IDA|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PNPT1 https://www.uniprot.org/uniprot/Q8TCS8 https://hpo.jax.org/app/browse/search?q=PNPT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610316 http://www.informatics.jax.org/searchtool/Search.do?query=PNPT1&submit=Quick%0D%7655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPT1 rs13009649 0.129792 0.1095 0.1849 1 0 0 intronic intronic intronic PNPT1 PNPT1 ENSG00000138035 Na Na Na Na Na Na Het;A>G 1473;30|57 Het;A>G 815;24|33 Hom;A>G 2226;0|75 N N - 2 55894428 55894428 G A snp intronic PNPT1 Pnpt1 ENSG00000138035 polyribonucleotide nucleotidyltransferase 1 chr2:55861400-55921045 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] Metabolism; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; Amyotrophic Lateral Sclerosis; height; Body Weight; Blood Pressure; multiple sclerosis; Height; Heart Failure Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. GO:0000957;mitochondrial RNA catabolic process;IDA|GO:0000958;mitochondrial mRNA catabolic process;IDA|GO:0000962;positive regulation of mitochondrial RNA catabolic process;IDA|GO:0000964;mitochondrial RNA 5'-end processing;IMP|GO:0000965;mitochondrial RNA 3'-end processing;IMP|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006401;RNA catabolic process;IDA|GO:0006402;mRNA catabolic process;IEA|GO:0006810;transport;IEA|GO:0034599;cellular response to oxidative stress;IDA|GO:0035458;cellular response to interferon-beta;IDA|GO:0035927;RNA import into mitochondrion;IDA|GO:0035928;rRNA import into mitochondrion;IDA|GO:0043457;regulation of cellular respiration;ISS|GO:0043631;RNA polyadenylation;IDA|GO:0045926;negative regulation of growth;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051591;response to cAMP;IEA|GO:0060416;response to growth hormone;IEA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0070207;protein homotrimerization;IDA|GO:0070584;mitochondrion morphogenesis;ISS|GO:0071042;nuclear polyadenylation-dependent mRNA catabolic process;IDA|GO:0071850;mitotic cell cycle arrest;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:0097222;mitochondrial mRNA polyadenylation;IMP|GO:0097421;liver regeneration;IEA|GO:2000627;positive regulation of miRNA catabolic process;IDA|GO:2000772;regulation of cellular senescence;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042788;polysomal ribosome;IEA|GO:0045025;mitochondrial degradosome;IDA GO:0000175;3'-5'-exoribonuclease activity;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004654;polyribonucleotide nucleotidyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0034046;poly(G) binding;IDA|GO:0035198;miRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PNPT1 https://www.uniprot.org/uniprot/Q8TCS8 https://hpo.jax.org/app/browse/search?q=PNPT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610316 http://www.informatics.jax.org/searchtool/Search.do?query=PNPT1&submit=Quick%0D%7655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPT1 rs12329050 0.470847 0 0 1 0 0 intronic intronic intronic PNPT1 PNPT1 ENSG00000138035 Na Na Na Na Na Na Het;G>A 125;6|5 Het;G>A 72;1|3 Hom;G>A 87;0|3 N N - 2 559020 559020 T C snp ncRNA_intronic AC093326.1 rs2724921 0.722444 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAM150B(dist=270712),TMEM18(dist=108953) FAM150B(dist=270712),TMEM18(dist=108953) ENSG00000233633 Na Na Na Na Na Na Het;T>C 406;14|13 Het;T>C 365;11|14 Hom;T>C 636;0|20 N N - 2 561099 561099 T C snp ncRNA_intronic AC093326.1 rs2685227 0.631789 0 0 1 0 0 intergenic intergenic ncRNA_intronic FAM150B(dist=272791),TMEM18(dist=106874) FAM150B(dist=272791),TMEM18(dist=106874) ENSG00000233633 Na Na Na Na Na Na Het;T>C 1285;54|47 Het;T>C 1269;56|54 Hom;T>C 3493;0|114 N N - 2 56411817 56411817 C T snp nonsynonymous SNV C58T P20S hydrophobic,neutral polar,hydrophilic,neutral CCDC85A Ccdc85a ENSG00000055813 coiled-coil domain containing 85A chr2:56411258-56613308 Tobacco Use Disorder; Blood Pressure Determination; Erythrocyte Indices; Menarche; Hematocrit; Schizophrenia; Breath Tests; Obesity; Erythrocytes; Coronary Disease http://www.genecards.org/index.php?path=/Search/keyword/CCDC85A https://www.uniprot.org/uniprot/Q96PX6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC85A&submit=Quick%0D%1000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC85A rs35587531 0.713658 0 0.7864 0.08 1 12 exonic exonic exonic CCDC85A CCDC85A ENSG00000055813 nonsynonymous SNV nonsynonymous SNV unknown CCDC85A:NM_001080433:exon1:c.C58T:p.P20S, CCDC85A:uc002rzn.3:exon1:c.C58T:p.P20S, UNKNOWN Het;C>T 426;13|17 Het;C>T 303;9|12 Hom;C>T 681;0|25 N N - 2 56611543 56611543 C CAAG indel ncRNA_exonic AC007744.1 rs145759524 0.380192 0.4078 0 1 0 0 UTR3 UTR3 ncRNA_exonic CCDC85A(NM_001080433:c.*53C>CAAG) CCDC85A(uc002rzn.3:c.*53C>CAAG) ENSG00000271894 Na Na Na Na Na Na Het;+AAG 266;11|8 Het;+AAG 368;31|12 Hom;+AAG 1069;0|25 N N - 2 56659152 56659152 G T snp intergenic CCDC85A Ccdc85a ENSG00000055813 coiled-coil domain containing 85A chr2:56411258-56613308 Tobacco Use Disorder; Blood Pressure Determination; Erythrocyte Indices; Menarche; Hematocrit; Schizophrenia; Breath Tests; Obesity; Erythrocytes; Coronary Disease http://www.genecards.org/index.php?path=/Search/keyword/CCDC85A https://www.uniprot.org/uniprot/Q96PX6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC85A&submit=Quick%0D%1000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC85A rs12616716 0.410543 0 0 1 0 0 intergenic intergenic intergenic CCDC85A(dist=45843),VRK2(dist=1475634) CCDC85A(dist=45843),SNORD78(dist=1112518) ENSG00000055813(dist=45844),ENSG00000231570(dist=318283) Na Na Na Na Na Na Het;G>T 823;37|41 Het;G>T 1330;69|64 Hom;G>T 3301;0|125 N N - 2 56659173 56659174 TC T indel intergenic CCDC85A Ccdc85a ENSG00000055813 coiled-coil domain containing 85A chr2:56411258-56613308 Tobacco Use Disorder; Blood Pressure Determination; Erythrocyte Indices; Menarche; Hematocrit; Schizophrenia; Breath Tests; Obesity; Erythrocytes; Coronary Disease http://www.genecards.org/index.php?path=/Search/keyword/CCDC85A https://www.uniprot.org/uniprot/Q96PX6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC85A&submit=Quick%0D%1000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC85A rs112497299 0.410543 0 0 1 0 0 intergenic intergenic intergenic CCDC85A(dist=45864),VRK2(dist=1475612) CCDC85A(dist=45864),SNORD78(dist=1112496) ENSG00000055813(dist=45865),ENSG00000231570(dist=318261) Na Na Na Na Na Na Het;-C 1534;52|51 Het;-C 2372;85|79 Hom;-C 5772;2|160 N N - 2 56711489 56711489 T G snp intergenic CCDC85A Ccdc85a ENSG00000055813 coiled-coil domain containing 85A chr2:56411258-56613308 Tobacco Use Disorder; Blood Pressure Determination; Erythrocyte Indices; Menarche; Hematocrit; Schizophrenia; Breath Tests; Obesity; Erythrocytes; Coronary Disease http://www.genecards.org/index.php?path=/Search/keyword/CCDC85A https://www.uniprot.org/uniprot/Q96PX6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC85A&submit=Quick%0D%1000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC85A rs6758008 0.623403 0 0 1 0 0 intergenic intergenic intergenic CCDC85A(dist=98180),VRK2(dist=1423297) CCDC85A(dist=98180),SNORD78(dist=1060181) ENSG00000055813(dist=98181),ENSG00000231570(dist=265946) Na Na Na Na Na Na Het;T>G 347;34|21 Het;T>G 923;31|43 Hom;T>G 2254;0|84 N N - 2 56811601 56811601 C T snp intergenic CCDC85A Ccdc85a ENSG00000055813 coiled-coil domain containing 85A chr2:56411258-56613308 Tobacco Use Disorder; Blood Pressure Determination; Erythrocyte Indices; Menarche; Hematocrit; Schizophrenia; Breath Tests; Obesity; Erythrocytes; Coronary Disease http://www.genecards.org/index.php?path=/Search/keyword/CCDC85A https://www.uniprot.org/uniprot/Q96PX6 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC85A&submit=Quick%0D%1000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC85A rs62160714 0.457468 0 0 1 0 0 intergenic intergenic intergenic CCDC85A(dist=198292),VRK2(dist=1323185) CCDC85A(dist=198292),SNORD78(dist=960069) ENSG00000055813(dist=198293),ENSG00000231570(dist=165834) Na Na Na Na Na Na Het;C>T 240;7|12 Het;C>T 131;17|8 Hom;C>T 1081;0|36 N N - 2 58381785 58381785 T C snp intronic VRK2 Vrk2 ENSG00000028116 vaccinia related kinase 2 chr2:58134786-58387055 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014] Bipolar Disorder; Chronic renal failure|Kidney Failure, Chronic; schizophrenia; Respiration Disorders; Insulin Initiation of Nuclear Envelope Reformation GO:0006468;protein phosphorylation;TAS|GO:0008360;regulation of cell shape;IBA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0034599;cellular response to oxidative stress;IMP|GO:0043408;regulation of MAPK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:2000659;regulation of interleukin-1-mediated signaling pathway;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0043234;protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IDA|GO:0019904;protein domain specific binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/VRK2 https://www.uniprot.org/uniprot/Q86Y07 https://www.ncbi.nlm.nih.gov/omim/?term=602169 http://www.informatics.jax.org/searchtool/Search.do?query=VRK2&submit=Quick%0D%721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VRK2 rs848294 0.260383 0 0 1 0 0 intronic intronic intronic VRK2 VRK2 ENSG00000028116 Na Na Na Na Na Na Het;T>C 789;26|29 Het;T>C 487;18|18 Hom;T>C 1612;0|48 N N - 2 58392789 58392789 T C snp intronic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs848288 0.276757 0 0 1 0 0 intronic intronic intronic FANCL FANCL ENSG00000115392 Na Na Na Na Na Na Het;T>C 277;5|10 Het;T>C 375;13|15 Hom;T>C 898;0|31 N N - 2 58392797 58392800 TTTA T indel intronic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs148383677 0.252396 0 0 1 0 0 intronic intronic intronic FANCL FANCL ENSG00000115392 Na Na Na Na Na Na Het;-TTA 404;7|11 Het;-TTA 520;20|15 Hom;-TTA 1405;0|33 N N - 2 58453843 58453843 G GA indel intronic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs372101290 0.259585 0.2509 0.3679 1 0 0 intronic intronic intronic FANCL FANCL ENSG00000115392 Na Na Na Na Na Na Het;+A 194;14|14 Het;+A 108;23|10 Hom;+A 1043;3|47 N N - 2 58568421 58568421 A G snp intergenic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs62141912 0.221046 0 0 1 0 0 intergenic intergenic intergenic FANCL(dist=99906),LINC01122(dist=179467) FANCL(dist=99906),NONE(dist=NONE) ENSG00000225226(dist=44738),ENSG00000233723(dist=86513) Na Na Na Na Na Na Het;A>G 397;28|15 Het;A>G 507;19|19 Hom;A>G 1258;0|38 N N - 2 58568575 58568575 G A snp intergenic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs72618700 0.1877 0 0 1 0 0 intergenic intergenic intergenic FANCL(dist=100060),LINC01122(dist=179313) FANCL(dist=100060),NONE(dist=NONE) ENSG00000225226(dist=44892),ENSG00000233723(dist=86359) Na Na Na Na Na Na Het;G>A 1413;94|68 Het;G>A 1431;68|67 Hom;G>A 3593;2|136 N N - 2 58618427 58618432 ACTCTT A indel intergenic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs61590494 0.253395 0 0 1 0 0 intergenic intergenic intergenic FANCL(dist=149912),LINC01122(dist=129456) FANCL(dist=149912),NONE(dist=NONE) ENSG00000225226(dist=94744),ENSG00000233723(dist=36502) Na Na Na Na Na Na Het;-CTCTT 668;14|16 Het;-CTCTT 1076;15|26 Hom;-CTCTT 1259;0|27 N N - 2 58618454 58618455 GT G indel intergenic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs59909374 0.253794 0 0 1 0 0 intergenic intergenic intergenic FANCL(dist=149939),LINC01122(dist=129433) FANCL(dist=149939),NONE(dist=NONE) ENSG00000225226(dist=94771),ENSG00000233723(dist=36479) Na Na Na Na Na Na Het;-T 905;21|25 Het;-T 1156;27|31 Hom;-T 1998;0|48 N N - 2 58618669 58618669 T C snp intergenic FANCL Fancl ENSG00000115392 Fanconi anemia complementation group L chr2:58386378-58468507 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] breast cancer ; Respiration Disorders; Bipolar Disorder; Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Fanconi Anemia Pathway GO:0006281;DNA repair;IEA|GO:0006513;protein monoubiquitination;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043240;Fanconi anaemia nuclear complex;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FANCL https://www.uniprot.org/uniprot/Q9NW38 https://hpo.jax.org/app/browse/search?q=FANCL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608111 http://www.informatics.jax.org/searchtool/Search.do?query=FANCL&submit=Quick%0D%4598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCL rs57835671 0.24381 0 0 1 0 0 intergenic intergenic intergenic FANCL(dist=150154),LINC01122(dist=129219) FANCL(dist=150154),NONE(dist=NONE) ENSG00000225226(dist=94986),ENSG00000233723(dist=36265) Na Na Na Na Na Na Het;T>C 148;5|5 Het;T>C 312;9|10 Hom;T>C 348;0|10 N N - 2 586793 586793 G A snp intergenic FAM150B Fam150b rs1320335 0.500998 0 0 1 0 0 intergenic intergenic intergenic FAM150B(dist=298485),TMEM18(dist=81180) FAM150B(dist=298485),TMEM18(dist=81180) ENSG00000233633(dist=8648),ENSG00000151353(dist=80542) Na Na Na Na Na Na Het;G>A 41;6|4 Ref Hom;G>A 148;0|6 N N - 2 59289176 59289177 TA T indel ncRNA_exonic LINC01122 rs35393198 0.907947 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LINC01122 FLJ30838(uc021vhz.2:c.*1263_*1264delinsT) ENSG00000233723 Na Na Na Na Na Na Het;-A 988;36|56 Het;-A 798;43|46 Hom;-A 1484;6|73 N N - 2 59390945 59390945 G A snp intergenic LINC01122 rs10211093 0.354633 0 0 1 0 0 intergenic intergenic intergenic LINC01122(dist=100044),LOC101927285(dist=53898) FLJ30838(dist=100044),Mir_548(dist=369180) ENSG00000233723(dist=100044),ENSG00000222030(dist=53898) Na Na Na Na Na Na Het;G>A 175;3|9 Het;G>A 60;5|4 Hom;G>A 196;0|7 N N - 2 62053546 62053549 CGCT C indel UTR3 *1542_*1539delinsG FAM161A Fam161a ENSG00000170264 family with sequence similarity 161 member A chr2:62051989-62081278 This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011] Retinitis Pigmentosa 28 Mice homozygous for a gene trapped allele show early loss of visual function associated with alterations in photoreceptor ciliary structure, abnormal photoreceptor outer segment morphology, microgliosis, and progressive retinal photoreceptor degeneration. GO:0007601;visual perception;IEA|GO:0030030;cell projection organization;IEA|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0032391;photoreceptor connecting cilium;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM161A https://hpo.jax.org/app/browse/search?q=FAM161A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613596 http://www.informatics.jax.org/searchtool/Search.do?query=FAM161A&submit=Quick%0D%12660ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM161A rs35746699 0.0794728 0.1514 0.2033 1 0 0 UTR3 UTR3 UTR3 FAM161A(NM_001201543:c.*44_*41delinsG,NM_032180:c.*44_*41delinsG) FAM161A(uc002sbm.4:c.*44_*41delinsG,uc002sbn.4:c.*44_*41delinsG,uc010ypo.2:c.*44_*41delinsG) ENSG00000170264(ENST00000456262:c.*1542_*1539delinsG,ENST00000405894:c.*44_*41delinsG,ENST00000404929:c.*44_*41delinsG,ENST00000418113:c.*667_*664delinsG) Na Na Na Na Na Na Het;-GCT 4647;141|123 Het;-GCT 4255;144|113 Hom;-GCT 9125;0|204 N N - 2 63346702 63346702 C A snp upstream DBIL5P2 rs13002109 0.423722 0 0 1 0 0 upstream upstream upstream DBIL5P2 DBIL5P2 ENSG00000242412 Na Na Na Na Na Na Het;C>A 535;9|19 Het;C>A 240;11|11 Hom;C>A 404;0|13 N N - 2 63609017 63609017 A T snp intronic WDPCP Wdpcp ENSG00000143951 WD repeat containing planar cell polarity effector chr2:63348518-64054977 This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Interleukin-6; Inflammation; protein quantitative trait loci; Atrial Fibrillation Mice homozygous for a null mutation display ciliogenesis defects, anophthalmia, cysts in multiple tissues, central polydactyly, duplex kidney, and septation defects in the outflow tract and cloaca. GO:0001822;kidney development;IEA|GO:0002093;auditory receptor cell morphogenesis;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0010762;regulation of fibroblast migration;IEA|GO:0016476;regulation of embryonic cell shape;ISS|GO:0030030;cell projection organization;IEA|GO:0032185;septin cytoskeleton organization;ISS|GO:0032880;regulation of protein localization;ISS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0044782;cilium organization;IEA|GO:0045184;establishment of protein localization;IEA|GO:0048568;embryonic organ development;IEA|GO:0051893;regulation of focal adhesion assembly;IEA|GO:0055123;digestive system development;IEA|GO:0060021;palate development;IEA|GO:0060271;cilium assembly;IEA|GO:0060541;respiratory system development;IEA|GO:0072358;cardiovascular system development;IEA|GO:0090521;glomerular visceral epithelial cell migration;IEA|GO:1900027;regulation of ruffle assembly;IEA|GO:2000114;regulation of establishment of cell polarity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;ISS|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0042995;cell projection;IEA|GO:0097541;axonemal basal plate;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDPCP https://www.uniprot.org/uniprot/O95876 https://hpo.jax.org/app/browse/search?q=WDPCP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613580 http://www.informatics.jax.org/searchtool/Search.do?query=WDPCP&submit=Quick%0D%8541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDPCP rs2138796 0.491414 0.5646 0.5579 1 0 0 intronic intronic intronic WDPCP WDPCP ENSG00000143951 Na Na Na Na Na Na Het;A>T 698;16|23 Het;A>T 304;10|12 Hom;A>T 870;0|26 N N - 2 63631830 63631830 T C snp intronic WDPCP Wdpcp ENSG00000143951 WD repeat containing planar cell polarity effector chr2:63348518-64054977 This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Interleukin-6; Inflammation; protein quantitative trait loci; Atrial Fibrillation Mice homozygous for a null mutation display ciliogenesis defects, anophthalmia, cysts in multiple tissues, central polydactyly, duplex kidney, and septation defects in the outflow tract and cloaca. GO:0001822;kidney development;IEA|GO:0002093;auditory receptor cell morphogenesis;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0010762;regulation of fibroblast migration;IEA|GO:0016476;regulation of embryonic cell shape;ISS|GO:0030030;cell projection organization;IEA|GO:0032185;septin cytoskeleton organization;ISS|GO:0032880;regulation of protein localization;ISS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0044782;cilium organization;IEA|GO:0045184;establishment of protein localization;IEA|GO:0048568;embryonic organ development;IEA|GO:0051893;regulation of focal adhesion assembly;IEA|GO:0055123;digestive system development;IEA|GO:0060021;palate development;IEA|GO:0060271;cilium assembly;IEA|GO:0060541;respiratory system development;IEA|GO:0072358;cardiovascular system development;IEA|GO:0090521;glomerular visceral epithelial cell migration;IEA|GO:1900027;regulation of ruffle assembly;IEA|GO:2000114;regulation of establishment of cell polarity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;ISS|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0042995;cell projection;IEA|GO:0097541;axonemal basal plate;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDPCP https://www.uniprot.org/uniprot/O95876 https://hpo.jax.org/app/browse/search?q=WDPCP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613580 http://www.informatics.jax.org/searchtool/Search.do?query=WDPCP&submit=Quick%0D%8541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDPCP rs6724115 0.195487 0.2010 0.1986 1 0 0 intronic intronic intronic WDPCP WDPCP ENSG00000143951 Na Na Na Na Na Na Het;T>C 372;25|17 Het;T>C 599;15|23 Hom;T>C 1081;0|35 N N - 2 63631889 63631889 A C snp intronic WDPCP Wdpcp ENSG00000143951 WD repeat containing planar cell polarity effector chr2:63348518-64054977 This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Interleukin-6; Inflammation; protein quantitative trait loci; Atrial Fibrillation Mice homozygous for a null mutation display ciliogenesis defects, anophthalmia, cysts in multiple tissues, central polydactyly, duplex kidney, and septation defects in the outflow tract and cloaca. GO:0001822;kidney development;IEA|GO:0002093;auditory receptor cell morphogenesis;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0010762;regulation of fibroblast migration;IEA|GO:0016476;regulation of embryonic cell shape;ISS|GO:0030030;cell projection organization;IEA|GO:0032185;septin cytoskeleton organization;ISS|GO:0032880;regulation of protein localization;ISS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0044782;cilium organization;IEA|GO:0045184;establishment of protein localization;IEA|GO:0048568;embryonic organ development;IEA|GO:0051893;regulation of focal adhesion assembly;IEA|GO:0055123;digestive system development;IEA|GO:0060021;palate development;IEA|GO:0060271;cilium assembly;IEA|GO:0060541;respiratory system development;IEA|GO:0072358;cardiovascular system development;IEA|GO:0090521;glomerular visceral epithelial cell migration;IEA|GO:1900027;regulation of ruffle assembly;IEA|GO:2000114;regulation of establishment of cell polarity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;ISS|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0042995;cell projection;IEA|GO:0097541;axonemal basal plate;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDPCP https://www.uniprot.org/uniprot/O95876 https://hpo.jax.org/app/browse/search?q=WDPCP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613580 http://www.informatics.jax.org/searchtool/Search.do?query=WDPCP&submit=Quick%0D%8541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDPCP rs4671501 0.382188 0 0 1 0 0 intronic intronic intronic WDPCP WDPCP ENSG00000143951 Na Na Na Na Na Na Het;A>C 32;7|2 Het;A>C 318;7|11 Hom;A>C 303;0|8 N N - 2 64124722 64124722 C A snp nonsynonymous SNV G2700T M900I hydrophobic,neutral aliphatic,hydrophobic,neutral VPS54 Vps54 ENSG00000143952 VPS54, GARP complex subunit chr2:64119280-64246206 This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS54 https://www.uniprot.org/uniprot/Q9P1Q0 https://www.ncbi.nlm.nih.gov/omim/?term=614633 http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54 rs11558741 0.137979 0.1458 0.1606 0.31 4 13 exonic exonic exonic VPS54 VPS54 ENSG00000143952 nonsynonymous SNV nonsynonymous SNV unknown VPS54:NM_016516:exon22:c.G2736T:p.M912I,VPS54:NM_001005739:exon22:c.G2700T:p.M900I, VPS54:uc002scp.3:exon22:c.G2700T:p.M900I,VPS54:uc002scq.3:exon22:c.G2736T:p.M912I,VPS54:uc010fct.3:exon19:c.G2277T:p.M759I,VPS54:uc002scn.3:exon9:c.G222T:p.M74I,VPS54:uc002sco.3:exon11:c.G1191T:p.M397I, UNKNOWN Het;C>A 43;16|5 Het;C>A 233;20|12 Hom;C>A 1093;0|41 N N - 2 64139834 64139834 A T snp intronic VPS54 Vps54 ENSG00000143952 VPS54, GARP complex subunit chr2:64119280-64246206 This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS54 https://www.uniprot.org/uniprot/Q9P1Q0 https://www.ncbi.nlm.nih.gov/omim/?term=614633 http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54 rs2302808 0.18111 0.2057 0.1898 1 0 0 intronic intronic intronic VPS54 VPS54 ENSG00000143952 Na Na Na Na Na Na Het;A>T 566;21|24 Het;A>T 629;20|28 Hom;A>T 1183;0|44 N N - 2 64139901 64139901 A T snp intronic VPS54 Vps54 ENSG00000143952 VPS54, GARP complex subunit chr2:64119280-64246206 This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS54 https://www.uniprot.org/uniprot/Q9P1Q0 https://www.ncbi.nlm.nih.gov/omim/?term=614633 http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54 rs2302809 0.653554 0 0 1 0 0 intronic intronic intronic VPS54 VPS54 ENSG00000143952 Na Na Na Na Na Na Het;A>T 136;9|6 Het;A>T 237;5|8 Hom;A>T 412;0|15 N N - 2 64140301 64140301 A T snp intronic VPS54 Vps54 ENSG00000143952 VPS54, GARP complex subunit chr2:64119280-64246206 This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS54 https://www.uniprot.org/uniprot/Q9P1Q0 https://www.ncbi.nlm.nih.gov/omim/?term=614633 http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54 rs10207847 0.654752 0.8092 0 1 0 0 intronic intronic intronic VPS54 VPS54 ENSG00000143952 Na Na Na Na Na Na Het;A>T 587;17|24 Het;A>T 484;26|22 Hom;A>T 1083;0|35 N N - 2 64147834 64147834 G A snp intronic VPS54 Vps54 ENSG00000143952 VPS54, GARP complex subunit chr2:64119280-64246206 This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS54 https://www.uniprot.org/uniprot/Q9P1Q0 https://www.ncbi.nlm.nih.gov/omim/?term=614633 http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54 rs1440002 0.218051 0 0 1 0 0 intronic intronic intronic VPS54 VPS54 ENSG00000143952 Na Na Na Na Na Na Het;G>A 418;5|15 Het;G>A 559;15|21 Hom;G>A 947;0|29 N N - 2 64221195 64221195 G A snp intronic VPS54 Vps54 ENSG00000143952 VPS54, GARP complex subunit chr2:64119280-64246206 This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis|; Tobacco Use Disorder Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006896;Golgi to vacuole transport;IBA|GO:0007041;lysosomal transport;IMP|GO:0015031;protein transport;IEA|GO:0040007;growth;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050881;musculoskeletal movement;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA GO:0000938;GARP complex;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS54 https://www.uniprot.org/uniprot/Q9P1Q0 https://www.ncbi.nlm.nih.gov/omim/?term=614633 http://www.informatics.jax.org/searchtool/Search.do?query=VPS54&submit=Quick%0D%8542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS54 rs35960986 0.131989 0 0 1 0 0 intronic intronic intronic VPS54 VPS54 ENSG00000143952 Na Na Na Na Na Na Het;G>A 92;1|5 Ref Hom;G>A 254;0|12 N N - 2 64332125 64332125 G A snp ncRNA_exonic AK026714 Na 0 0 0 1 0 0 intronic ncRNA_exonic intronic PELI1 AK026714 ENSG00000197329 Na Na Na Na Na Na Het;G>A 31;4|2 Ref Hom;G>A 197;0|6 N N - 2 65130771 65130771 T C snp ncRNA_exonic LOC400958 rs4671110 0.378794 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC400958 LOC400958(uc021vir.1:c.*729A>G) ENSG00000237638 Na Na Na Na Na Na Het;T>C 1490;53|59 Het;T>C 1589;70|66 Hom;T>C 3375;0|106 N N - 2 65130811 65130811 C T snp ncRNA_exonic LOC400958 rs4671111 0.588458 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC400958 LOC400958(uc021vir.1:c.*689G>A) ENSG00000237638 Na Na Na Na Na Na Het;C>T 1380;53|59 Het;C>T 1550;66|68 Hom;C>T 3073;0|101 N N - 2 65312217 65312217 C T snp UTR3 *1449C>T CEP68 Cep68 ENSG00000011523 centrosomal protein 68 chr2:65283500-65314138 Cholesterol, LDL; Platelet Aggregation GO:0007098;centrosome cycle;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0033365;protein localization to organelle;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP68 https://www.uniprot.org/uniprot/Q76N32 https://www.ncbi.nlm.nih.gov/omim/?term=616889 http://www.informatics.jax.org/searchtool/Search.do?query=CEP68&submit=Quick%0D%565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP68 rs4671638 0.746805 0 0 1 0 0 UTR3 UTR3 UTR3 CEP68(NM_015147:c.*1449C>T) CEP68(uc002sdl.4:c.*1449C>T,uc002sdk.4:c.*1449C>T,uc010yqc.2:c.*1449C>T) ENSG00000011523(ENST00000377990:c.*1449C>T,ENST00000260569:c.*1449C>T) Na Na Na Na Na Na Het;C>T 2226;96|98 Het;C>T 1942;110|89 Hom;C>T 5968;2|226 N N - 2 65313215 65313215 C CAG indel UTR3 *2447C>CAG CEP68 Cep68 ENSG00000011523 centrosomal protein 68 chr2:65283500-65314138 Cholesterol, LDL; Platelet Aggregation GO:0007098;centrosome cycle;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0033365;protein localization to organelle;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP68 https://www.uniprot.org/uniprot/Q76N32 https://www.ncbi.nlm.nih.gov/omim/?term=616889 http://www.informatics.jax.org/searchtool/Search.do?query=CEP68&submit=Quick%0D%565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP68 rs3052195 0.747804 0 0 1 0 0 UTR3 UTR3 UTR3 CEP68(NM_015147:c.*2447C>CAG) CEP68(uc002sdl.4:c.*2447C>CAG,uc002sdk.4:c.*2447C>CAG,uc010yqc.2:c.*2447C>CAG) ENSG00000011523(ENST00000377990:c.*2447C>CAG,ENST00000260569:c.*2447C>CAG) Na Na Na Na Na Na Het;+AG 2352;70|63 Het;+AG 1690;65|47 Hom;+AG 5652;0|126 N N - 2 65481008 65481008 A C snp intronic ACTR2 Actr2 ENSG00000138071 ARP2 actin related protein 2 homolog chr2:65454887-65498387 The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. Clathrin-mediated endocytosis GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0008306;associative learning;IEA|GO:0008356;asymmetric cell division;IEA|GO:0016344;meiotic chromosome movement towards spindle pole;IEA|GO:0016482;cytosolic transport;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0033206;meiotic cytokinesis;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0035984;cellular response to trichostatin A;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0060271;cilium assembly;IMP|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;TAS|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0042995;cell projection;IEA|GO:0061825;podosome core;IEA|GO:0070062;extracellular exosome;IDA|GO:0071437;invadopodium;IEA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;IDA|GO:0005524;ATP binding;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTR2 https://www.uniprot.org/uniprot/P61160 https://www.ncbi.nlm.nih.gov/omim/?term=604221 http://www.informatics.jax.org/searchtool/Search.do?query=ACTR2&submit=Quick%0D%7661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR2 rs268871 0.786941 0.8364 0.8187 1 0 0 intronic intronic intronic ACTR2 ACTR2 ENSG00000138071 Na Na Na Na Na Na Het;A>C 779;42|31 Het;A>C 667;35|31 Hom;A>C 1502;0|51 N N - 2 65488538 65488538 G A snp intronic ACTR2 Actr2 ENSG00000138071 ARP2 actin related protein 2 homolog chr2:65454887-65498387 The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. Clathrin-mediated endocytosis GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0008306;associative learning;IEA|GO:0008356;asymmetric cell division;IEA|GO:0016344;meiotic chromosome movement towards spindle pole;IEA|GO:0016482;cytosolic transport;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0033206;meiotic cytokinesis;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0035984;cellular response to trichostatin A;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0060271;cilium assembly;IMP|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;TAS|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0042995;cell projection;IEA|GO:0061825;podosome core;IEA|GO:0070062;extracellular exosome;IDA|GO:0071437;invadopodium;IEA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;IDA|GO:0005524;ATP binding;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTR2 https://www.uniprot.org/uniprot/P61160 https://www.ncbi.nlm.nih.gov/omim/?term=604221 http://www.informatics.jax.org/searchtool/Search.do?query=ACTR2&submit=Quick%0D%7661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR2 rs268862 0.813299 0.8656 0.8269 1 0 0 intronic intronic intronic ACTR2 ACTR2 ENSG00000138071 Na Na Na Na Na Na Het;G>A 310;23|13 Het;G>A 184;18|9 Hom;G>A 846;0|31 N N - 2 65495887 65495887 G A snp UTR3 *19G>A ACTR2 Actr2 ENSG00000138071 ARP2 actin related protein 2 homolog chr2:65454887-65498387 The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. Clathrin-mediated endocytosis GO:0006928;movement of cell or subcellular component;TAS|GO:0007015;actin filament organization;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0008306;associative learning;IEA|GO:0008356;asymmetric cell division;IEA|GO:0016344;meiotic chromosome movement towards spindle pole;IEA|GO:0016482;cytosolic transport;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0033206;meiotic cytokinesis;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0035902;response to immobilization stress;IEA|GO:0035984;cellular response to trichostatin A;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051321;meiotic cell cycle;IEA|GO:0051653;spindle localization;IEA|GO:0060271;cilium assembly;IMP|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061024;membrane organization;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;TAS|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0030027;lamellipodium;IEA|GO:0030478;actin cap;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0042995;cell projection;IEA|GO:0061825;podosome core;IEA|GO:0070062;extracellular exosome;IDA|GO:0071437;invadopodium;IEA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0000166;nucleotide binding;IEA|GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;IDA|GO:0005524;ATP binding;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTR2 https://www.uniprot.org/uniprot/P61160 https://www.ncbi.nlm.nih.gov/omim/?term=604221 http://www.informatics.jax.org/searchtool/Search.do?query=ACTR2&submit=Quick%0D%7661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR2 rs268875 0.808307 0.8802 0.8411 1 0 0 UTR3 UTR3 UTR3 ACTR2(NM_001005386:c.*19G>A,NM_005722:c.*19G>A) ACTR2(uc002sdp.3:c.*19G>A,uc002sdq.3:c.*19G>A,uc010yqg.2:c.*19G>A) ENSG00000138071(ENST00000260641:c.*19G>A,ENST00000377982:c.*19G>A) Na Na Na Na Na Na Het;G>A 277;15|12 Het;G>A 385;24|20 Hom;G>A 777;0|27 N N - 2 65559027 65559027 A G snp intronic SPRED2 Spred2 ENSG00000198369 sprouty related EVH1 domain containing 2 chr2:65537985-65659771 SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008] Neurofibromatosis 1|Syndrome; Chronic renal failure|Kidney Failure, Chronic; Arthritis, Rheumatoid; Erythrocyte Count; Tobacco Use Disorder; Narcolepsy; Arthritis, Rheumatoid|Rheumatoid Arthritis; Autoimmune Diseases Homozygous null mice are fertile and display increased hematopoietic cell formation in culture. PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases GO:0000188;inactivation of MAPK activity;IEA|GO:0007275;multicellular organism development;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009966;regulation of signal transduction;IEA|GO:0010801;negative regulation of peptidyl-threonine phosphorylation;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;ISS|GO:0090311;regulation of protein deacetylation;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005173;stem cell factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030291;protein serine/threonine kinase inhibitor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/SPRED2 https://www.ncbi.nlm.nih.gov/omim/?term=609292 http://www.informatics.jax.org/searchtool/Search.do?query=SPRED2&submit=Quick%0D%16879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPRED2 rs2271198 0.712859 0 0 1 0 0 intronic intronic intronic SPRED2 SPRED2 ENSG00000198369 Na Na Na Na Na Na Het;A>G 122;6|5 Ref Hom;A>G 260;0|9 N N - 2 66652955 66652955 C A snp ncRNA_exonic MEIS1-AS3 rs6738144 0.57488 0 0 1 0 0 ncRNA_exonic ncRNA_exonic downstream MEIS1-AS3 MEIS1-AS3 ENSG00000226819 Na Na Na Na Na Na Het;C>A 2651;139|119 Het;C>A 1392;143|73 Hom;C>A 5261;0|194 N N - 2 66652982 66652982 C G snp ncRNA_exonic MEIS1-AS3 rs6546230 0.606629 0 0 1 0 0 ncRNA_exonic ncRNA_exonic downstream MEIS1-AS3 MEIS1-AS3 ENSG00000226819 Na Na Na Na Na Na Het;C>G 2595;150|117 Het;C>G 1377;141|72 Hom;C>G 5353;0|192 N N - 2 66653974 66653974 C A snp ncRNA_exonic MEIS1-AS3 rs12622537 0.547125 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MEIS1-AS3 MEIS1-AS3 ENSG00000226819 Na Na Na Na Na Na Het;C>A 1639;38|68 Het;C>A 1161;50|50 Hom;C>A 3041;0|111 N N - 2 66654097 66654097 T A snp ncRNA_exonic MEIS1-AS3 rs12621789 0.570887 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MEIS1-AS3 MEIS1-AS3 ENSG00000226819 Na Na Na Na Na Na Het;T>A 1662;61|72 Het;T>A 1644;75|71 Hom;T>A 3176;0|114 N N - 2 66654298 66654299 GA G indel ncRNA_intronic MEIS1-AS3 rs34893420 0.758387 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MEIS1-AS3 MEIS1-AS3 ENSG00000226819 Na Na Na Na Na Na Het;-A 1056;48|55 Het;-A 746;35|41 Hom;-A 2254;3|97 N N - 2 66660403 66660403 G T snp ncRNA_intronic MEIS1-AS3 rs13033745 0.63119 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MEIS1-AS3 MEIS1-AS3 ENSG00000226819 Na Na Na Na Na Na Het;G>T 757;13|34 Het;G>T 554;34|27 Hom;G>T 1007;0|36 N N - 2 66665146 66665146 T C snp intronic MEIS1 Meis1 ENSG00000143995 Meis homeobox 1 chr2:66660584-66801001 Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008] PR interval; Body Weight; Type 2 Diabetes| edema | rosiglitazone; Restless Legs Syndrome; Breath Tests; Brain; restless legs syndrome; Nocturnal Myoclonus Syndrome|Restless Legs Syndrome|Tourette Syndrome; Metabolism; Triglycerides; Body Mass Index; Celiac Disease|; Tobacco Use Disorder; Electrocardiography; Waist Circumference Homozygous mutant mice die during gestation and exhibit eye, vasculature, and hematopoietic defects. Mice homozygous for a conditional allele activated in HSCs exhibit altered bone marrow cell development, altered HSC physiology and increased reactive oxygen species production. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001525;angiogenesis;IEA|GO:0002089;lens morphogenesis in camera-type eye;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007626;locomotory behavior;IEA|GO:0030097;hemopoiesis;IEA|GO:0035855;megakaryocyte development;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060216;definitive hemopoiesis;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEIS1 https://www.uniprot.org/uniprot/O00470 https://www.ncbi.nlm.nih.gov/omim/?term=601739 http://www.informatics.jax.org/searchtool/Search.do?query=MEIS1&submit=Quick%0D%8548ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIS1 rs2280334 0.565296 0.6262 0 1 0 0 intronic intronic intronic MEIS1 MEIS1 ENSG00000143995 Na Na Na Na Na Na Het;T>C 1359;53|47 Het;T>C 874;43|34 Hom;T>C 2572;0|76 N N - 2 66667186 66667186 C T snp ncRNA_intronic MEIS1-AS2 rs2271856 0.530152 0 0.6357 1 0 0 ncRNA_intronic intronic ncRNA_intronic MEIS1-AS2 MEIS1 ENSG00000230749,ENSG00000244522 Na Na Na Na Na Na Het;C>T 224;9|9 Het;C>T 143;8|7 Hom;C>T 357;0|12 N N - 2 67456700 67456700 T C snp ncRNA_intronic BC040863 rs875037 0.767772 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927661,LOC102800447 BC040863 ENSG00000230906,ENSG00000235885 Na Na Na Na Na Na Het;T>C 428;14|16 Het;T>C 228;23|12 Hom;T>C 755;0|21 N N - 2 67495702 67495703 GC G indel ncRNA_exonic LOC102800447 rs10711392 0.737819 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC102800447 BC040863 ENSG00000235885 Na Na Na Na Na Na Het;-C 766;29|30 Het;-C 1110;55|45 Hom;-C 3051;0|96 N N - 2 6773869 6773869 G A snp ncRNA_exonic LINC01246 rs62106709 0.230431 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01246 LOC400940(dist=645505),LINC00487(dist=95431) ENSG00000236172 Na Na Na Na Na Na Het;G>A 541;43|27 Het;G>A 1390;85|66 Hom;G>A 3029;7|119 N N - 2 70917812 70917812 C T snp ncRNA_intronic AC005234.1 rs10084293 0.740216 0 0 1 0 0 intronic intronic ncRNA_intronic ADD2 ADD2 ENSG00000235035 Na Na Na Na Na Na Het;C>T 282;21|15 Het;C>T 204;10|11 Hom;C>T 465;0|18 N N - 2 71415479 71415479 T C snp UTR3 *130A>G PAIP2B Paip2b ENSG00000124374 poly(A) binding protein interacting protein 2B chr2:71409869-71454213 Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008] Erythrocytes; Hypertrophy, Left Ventricular; Monocytes Mice homozygous for a knock-out allele exhibit normal reproductive system physiology. GO:0006417;regulation of translation;IEA|GO:0045947;negative regulation of translational initiation;IDA GO:0005737;cytoplasm;IC GO:0000900;translation repressor activity, nucleic acid binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PAIP2B https://www.uniprot.org/uniprot/Q9ULR5 https://www.ncbi.nlm.nih.gov/omim/?term=611018 http://www.informatics.jax.org/searchtool/Search.do?query=PAIP2B&submit=Quick%0D%5649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAIP2B rs357780 0.943291 0 0 1 0 0 UTR3 UTR3 UTR3 PAIP2B(NM_020459:c.*130A>G) PAIP2B(uc002shu.2:c.*130A>G) ENSG00000124374(ENST00000244221:c.*130A>G) Na Na Na Na Na Na Het;T>C 73;3|3 Ref Hom;T>C 105;0|4 N N - 2 71417065 71417065 G T snp synonymous SNV C225A P75P hydrophobic,neutral hydrophobic,neutral PAIP2B Paip2b ENSG00000124374 poly(A) binding protein interacting protein 2B chr2:71409869-71454213 Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008] Erythrocytes; Hypertrophy, Left Ventricular; Monocytes Mice homozygous for a knock-out allele exhibit normal reproductive system physiology. GO:0006417;regulation of translation;IEA|GO:0045947;negative regulation of translational initiation;IDA GO:0005737;cytoplasm;IC GO:0000900;translation repressor activity, nucleic acid binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PAIP2B https://www.uniprot.org/uniprot/Q9ULR5 https://www.ncbi.nlm.nih.gov/omim/?term=611018 http://www.informatics.jax.org/searchtool/Search.do?query=PAIP2B&submit=Quick%0D%5649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAIP2B rs357777 0.957668 0.9238 0.9346 1 0 0 exonic exonic exonic PAIP2B PAIP2B ENSG00000124374 synonymous SNV synonymous SNV unknown PAIP2B:NM_020459:exon3:c.C225A:p.P75P, PAIP2B:uc002shu.2:exon3:c.C225A:p.P75P, UNKNOWN Het;G>T 1329;46|59 Het;G>T 777;55|41 Hom;G>T 1450;0|53 N N - 2 7164578 7164578 A G snp synonymous SNV A588G E196E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) RNF144A Rnf144a ENSG00000151692 ring finger protein 144A chr2:7057523-7208417 The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Jul 2008] Perphenazine; Longevity; Stroke; Iron; Schizophrenia; Cholesterol, LDL; Tobacco Use Disorder; Body Fat Distribution; Immunoglobulin E; Amyotrophic Lateral Sclerosis; Depressive Disorder, Major; response to antipsychotic treatment E3 ubiquitin ligases ubiquitinate target proteins GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;TAS|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/RNF144A https://www.uniprot.org/uniprot/P50876 http://www.informatics.jax.org/searchtool/Search.do?query=RNF144A&submit=Quick%0D%9456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF144A rs376219 0.264377 0.3026 0.3438 1 0 0 exonic exonic exonic RNF144A RNF144A ENSG00000151692 synonymous SNV synonymous SNV unknown RNF144A:NM_014746:exon7:c.A588G:p.E196E, RNF144A:uc002qys.3:exon7:c.A588G:p.E196E, UNKNOWN Het;A>G 1060;57|46 Het;A>G 1209;57|57 Hom;A>G 2950;0|107 N N - 2 71645890 71645890 G C snp intronic ZNF638 Zfp638 ENSG00000075292 zinc finger protein 638 chr2:71503691-71662199 The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] Alcoholism Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;TAS|GO:0003723;RNA binding;TAS|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF638 https://www.uniprot.org/uniprot/Q14966 https://www.ncbi.nlm.nih.gov/omim/?term=614349 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF638&submit=Quick%0D%1538ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF638 rs4852784 0.613419 0 0 1 0 0 intronic intronic intronic ZNF638 ZNF638 ENSG00000075292 Na Na Na Na Na Na Het;G>C 149;3|5 Het;G>C 123;2|4 Hom;G>C 388;0|10 N N - 2 7164746 7164746 C G snp intronic RNF144A Rnf144a ENSG00000151692 ring finger protein 144A chr2:7057523-7208417 The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Jul 2008] Perphenazine; Longevity; Stroke; Iron; Schizophrenia; Cholesterol, LDL; Tobacco Use Disorder; Body Fat Distribution; Immunoglobulin E; Amyotrophic Lateral Sclerosis; Depressive Disorder, Major; response to antipsychotic treatment E3 ubiquitin ligases ubiquitinate target proteins GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;TAS|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/RNF144A https://www.uniprot.org/uniprot/P50876 http://www.informatics.jax.org/searchtool/Search.do?query=RNF144A&submit=Quick%0D%9456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF144A rs392709 0.26278 0 0 1 0 0 intronic intronic intronic RNF144A RNF144A ENSG00000151692 Na Na Na Na Na Na Het;C>G 191;18|9 Het;C>G 373;9|12 Hom;C>G 623;0|18 N N - 2 7174970 7174970 C G snp intronic RNF144A Rnf144a ENSG00000151692 ring finger protein 144A chr2:7057523-7208417 The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Jul 2008] Perphenazine; Longevity; Stroke; Iron; Schizophrenia; Cholesterol, LDL; Tobacco Use Disorder; Body Fat Distribution; Immunoglobulin E; Amyotrophic Lateral Sclerosis; Depressive Disorder, Major; response to antipsychotic treatment E3 ubiquitin ligases ubiquitinate target proteins GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;TAS|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/RNF144A https://www.uniprot.org/uniprot/P50876 http://www.informatics.jax.org/searchtool/Search.do?query=RNF144A&submit=Quick%0D%9456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF144A rs451503 0.542133 0 0 1 0 0 intronic intronic intronic RNF144A RNF144A ENSG00000151692 Na Na Na Na Na Na Het;C>G 47;4|4 Het;C>G 53;2|4 Hom;C>G 445;0|17 N N - 2 72063812 72063812 T C snp intergenic DYSF Dysf ENSG00000135636 dysferlin chr2:71680852-71913898 The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008] Tunica Media; Prostatic Neoplasms; Creatinine; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; protein quantitative trait loci; Albumins; Hypertrophy, Left Ventricular Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time. Smooth Muscle Contraction GO:0001778;plasma membrane repair;IEA|GO:0006906;vesicle fusion;IEA|GO:0006936;muscle contraction;TAS GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030139;endocytic vesicle;IDA|GO:0030315;T-tubule;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042383;sarcolemma;IDA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0005544;calcium-dependent phospholipid binding;IMP|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYSF https://www.uniprot.org/uniprot/O75923 https://hpo.jax.org/app/browse/search?q=DYSF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603009 http://www.informatics.jax.org/searchtool/Search.do?query=DYSF&submit=Quick%0D%7194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYSF rs62147664 0.353035 0 0 1 0 0 intergenic intergenic intergenic DYSF(dist=149919),CYP26B1(dist=292555) DYSF(dist=149919),CYP26B1(dist=292555) ENSG00000135636(dist=149914),ENSG00000233971(dist=147500) Na Na Na Na Na Na Het;T>C 233;1|7 Ref Hom;T>C 185;0|5 N N - 2 72707874 72707874 A G snp synonymous SNV T1671C V557V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EXOC6B Exoc6b ENSG00000144036 exocyst complex component 6B chr2:72403113-73053170 This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016] GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA GO:0000145;exocyst;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EXOC6B https://www.uniprot.org/uniprot/Q9Y2D4 https://www.ncbi.nlm.nih.gov/omim/?term=607880 http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6B&submit=Quick%0D%8558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6B rs653220 0.347644 0.4079 0.3220 1 0 0 exonic exonic exonic EXOC6B EXOC6B ENSG00000144036 synonymous SNV synonymous SNV unknown EXOC6B:NM_015189:exon17:c.T1671C:p.V557V, EXOC6B:uc010fep.3:exon17:c.T1671C:p.V557V,EXOC6B:uc002sij.2:exon17:c.T1671C:p.V557V, UNKNOWN Het;A>G 1078;47|43 Ref Hom;A>G 3119;0|110 N N - 2 73993436 73993437 CA C indel intronic DUSP11 Dusp11 ENSG00000144048 dual specificity phosphatase 11 chr2:73989311-74007284 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008] GO:0006396;RNA processing;TAS|GO:0006470;protein dephosphorylation;IDA|GO:0016070;RNA metabolic process;IDA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0098507;polynucleotide 5' dephosphorylation;IDA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;TAS|GO:0016607;nuclear speck;IDA|GO:0045171;intercellular bridge;IDA GO:0003723;RNA binding;TAS|GO:0004651;polynucleotide 5'-phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0098519;nucleotide phosphatase activity, acting on free nucleotides;IMP http://www.genecards.org/index.php?path=/Search/keyword/DUSP11 https://www.uniprot.org/uniprot/O75319 https://www.ncbi.nlm.nih.gov/omim/?term=603092 http://www.informatics.jax.org/searchtool/Search.do?query=DUSP11&submit=Quick%0D%8562ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP11 rs34279043 0.54972 0 0 1 0 0 intronic intronic intronic DUSP11 DUSP11 ENSG00000144048 Na Na Na Na Na Na Het;-A 85;5|8 Ref Hom;-A 181;0|10 N N - 2 74128666 74128714 TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGC T indel intronic ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs143078935 0.672724 0 0 1 0 0 intronic intronic intronic ACTG2 ACTG2 ENSG00000163017 Na Na Na Na Na Na Het;-GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGC 1193;4|34 Het;-GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGC 405;12|12 Hom;-GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGC 747;0|19 N N - 2 74135732 74135732 G A snp UTR3 *253G>A ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs702460 0.571885 0 0 1 0 0 intronic intronic UTR3 ACTG2 ACTG2 ENSG00000163017(ENST00000438902:c.*253G>A) Na Na Na Na Na Na Het;G>A 313;20|13 Het;G>A 178;11|7 Hom;G>A 981;0|36 N N - 2 74135797 74135797 T C snp UTR3 *318T>C ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs702461 0.575879 0.5947 0.6476 1 0 0 intronic intronic UTR3 ACTG2 ACTG2 ENSG00000163017(ENST00000438902:c.*318T>C) Na Na Na Na Na Na Het;T>C 800;46|37 Het;T>C 753;42|37 Hom;T>C 2488;0|88 N N - 2 74135898 74135898 A G snp synonymous SNV A225G E75E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs756128 0.571885 0.5900 0.6403 1 0 0 exonic exonic exonic ACTG2 ACTG2 ENSG00000163017 synonymous SNV synonymous SNV unknown ACTG2:NM_001199893:exon3:c.A225G:p.E75E,ACTG2:NM_001615:exon4:c.A354G:p.E118E, ACTG2:uc010yrn.2:exon3:c.A225G:p.E75E,ACTG2:uc010fey.3:exon5:c.A354G:p.E118E,ACTG2:uc002sjw.3:exon4:c.A354G:p.E118E, UNKNOWN Het;A>G 894;43|40 Het;A>G 779;33|32 Hom;A>G 2127;2|77 N N - 2 74140581 74140581 A T snp intronic ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs891699 0.599441 0.6197 0.6524 1 0 0 intronic intronic intronic ACTG2 ACTG2 ENSG00000163017 Na Na Na Na Na Na Het;A>T 1115;53|52 Het;A>T 446;40|23 Hom;A>T 2508;0|89 N N - 2 74140789 74140789 T C snp intronic ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs891698 0.60004 0.6196 0.6494 1 0 0 intronic intronic intronic ACTG2 ACTG2 ENSG00000163017 Na Na Na Na Na Na Het;T>C 717;36|28 Het;T>C 432;28|20 Hom;T>C 1689;0|56 N N - 2 74141685 74141695 CAAAAAAAAAA C indel intronic ACTG2 Actg2 ENSG00000163017 actin, gamma 2, smooth muscle, enteric chr2:74119441-74146992 Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] Cholestasis|Pre-Eclampsia|Pregnancy Complications Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0010628;positive regulation of gene expression;ISS|GO:0090131;mesenchyme migration;ISS GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0032982;myosin filament;ISS|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA|GO:0072562;blood microparticle;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTG2 https://hpo.jax.org/app/browse/search?q=ACTG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102545 http://www.informatics.jax.org/searchtool/Search.do?query=ACTG2&submit=Quick%0D%10860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTG2 rs59417466 0.424521 0 0 1 0 0 intronic intronic intronic ACTG2 ACTG2 ENSG00000163017 Na Na Na Na Na Na Het;-AAAAAAAAAA 149;5|5 Ref Hom;-AAAAAAAAAA 98;0|3 N N - 2 74344119 74344119 C G snp intergenic TET3 Tet3 ENSG00000187605 tet methylcytosine dioxygenase 3 chr2:74229840-74335303 Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010] Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders; Hematocrit; Hemoglobins; Tobacco Use Disorder Mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability. TET1,2,3 and TDG demethylate DNA GO:0006493;protein O-linked glycosylation;IMP|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0044727;DNA demethylation of male pronucleus;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;ISS|GO:0080182;histone H3-K4 trimethylation;IMP|GO:0006493;protein O-linked glycosylation;IMP|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0044727;DNA demethylation of male pronucleus;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;ISS|GO:0080182;histone H3-K4 trimethylation;IMP GO:0001940;male pronucleus;ISS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/TET3 https://www.uniprot.org/uniprot/O43151 https://www.ncbi.nlm.nih.gov/omim/?term=613555 http://www.informatics.jax.org/searchtool/Search.do?query=TET3&submit=Quick%0D%6ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TET3 rs72911122 0.307508 0 0 1 0 0 intergenic intergenic intergenic TET3(dist=8817),BOLA3(dist=18409) TET3(dist=8817),BOLA3(dist=18409) ENSG00000187605(dist=8816),ENSG00000257800(dist=3688) Na Na Na Na Na Na Het;C>G 95;1|5 Ref Hom;C>G 71;0|4 N N - 2 74589288 74589288 G C snp intronic DCTN1 Dctn1 ENSG00000204843 dynactin subunit 1 chr2:74588281-74619214 This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008] ALS/amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis|Dementia|Parkinson Disease; multiple sclerosis; Multiple Sclerosis; breast cancer Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;NAS|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007399;nervous system development;NAS|GO:0010457;centriole-centriole cohesion;IMP|GO:0010970;transport along microtubule;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0031116;positive regulation of microtubule polymerization;IDA|GO:0032402;melanosome transport;IEA|GO:0034454;microtubule anchoring at centrosome;IMP|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0051081;nuclear envelope disassembly;IMP|GO:0060236;regulation of mitotic spindle organization;IMP|GO:0090063;positive regulation of microtubule nucleation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IMP GO:0000776;kinetochore;IDA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;TAS|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005869;dynactin complex;IEA|GO:0005874;microtubule;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030286;dynein complex;IEA|GO:0030904;retromer complex;IDA|GO:0031252;cell leading edge;IEA|GO:0035371;microtubule plus-end;IDA|GO:0043234;protein complex;IEA GO:0003774;motor activity;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IDA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCTN1 https://hpo.jax.org/app/browse/search?q=DCTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601143 http://www.informatics.jax.org/searchtool/Search.do?query=DCTN1&submit=Quick%0D%17403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCTN1 rs2268427 0.175719 0.0841 0.0800 1 0 0 intronic intronic intronic DCTN1 DCTN1 ENSG00000204843,ENSG00000264324 Na Na Na Na Na Na Het;G>C 1023;70|48 Ref Hom;G>C 3001;0|111 N N - 2 74589897 74589897 G T snp intronic DCTN1 Dctn1 ENSG00000204843 dynactin subunit 1 chr2:74588281-74619214 This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008] ALS/amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis|Dementia|Parkinson Disease; multiple sclerosis; Multiple Sclerosis; breast cancer Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;NAS|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007399;nervous system development;NAS|GO:0010457;centriole-centriole cohesion;IMP|GO:0010970;transport along microtubule;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0031116;positive regulation of microtubule polymerization;IDA|GO:0032402;melanosome transport;IEA|GO:0034454;microtubule anchoring at centrosome;IMP|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0051081;nuclear envelope disassembly;IMP|GO:0060236;regulation of mitotic spindle organization;IMP|GO:0090063;positive regulation of microtubule nucleation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IMP GO:0000776;kinetochore;IDA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;TAS|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005869;dynactin complex;IEA|GO:0005874;microtubule;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030286;dynein complex;IEA|GO:0030904;retromer complex;IDA|GO:0031252;cell leading edge;IEA|GO:0035371;microtubule plus-end;IDA|GO:0043234;protein complex;IEA GO:0003774;motor activity;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IDA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCTN1 https://hpo.jax.org/app/browse/search?q=DCTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601143 http://www.informatics.jax.org/searchtool/Search.do?query=DCTN1&submit=Quick%0D%17403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCTN1 rs2268426 0.174521 0.0838 0.0810 1 0 0 intronic intronic intronic DCTN1 DCTN1 ENSG00000204843,ENSG00000264324 Na Na Na Na Na Na Het;G>T 324;29|17 Ref Hom;G>T 752;0|27 N N - 2 74598999 74599002 AAAG A indel intronic DCTN1 Dctn1 ENSG00000204843 dynactin subunit 1 chr2:74588281-74619214 This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008] ALS/amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis|Dementia|Parkinson Disease; multiple sclerosis; Multiple Sclerosis; breast cancer Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;NAS|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007399;nervous system development;NAS|GO:0010457;centriole-centriole cohesion;IMP|GO:0010970;transport along microtubule;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0031116;positive regulation of microtubule polymerization;IDA|GO:0032402;melanosome transport;IEA|GO:0034454;microtubule anchoring at centrosome;IMP|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0051081;nuclear envelope disassembly;IMP|GO:0060236;regulation of mitotic spindle organization;IMP|GO:0090063;positive regulation of microtubule nucleation;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1905515;non-motile cilium assembly;IMP GO:0000776;kinetochore;IDA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;TAS|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005869;dynactin complex;IEA|GO:0005874;microtubule;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030286;dynein complex;IEA|GO:0030904;retromer complex;IDA|GO:0031252;cell leading edge;IEA|GO:0035371;microtubule plus-end;IDA|GO:0043234;protein complex;IEA GO:0003774;motor activity;IEA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IDA|GO:0070840;dynein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCTN1 https://hpo.jax.org/app/browse/search?q=DCTN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601143 http://www.informatics.jax.org/searchtool/Search.do?query=DCTN1&submit=Quick%0D%17403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCTN1 rs146355915 0.452077 0 0 1 0 0 intronic intronic intronic DCTN1 DCTN1 ENSG00000204843 Na Na Na Na Na Na Het;-AAG 159;3|5 Ref Hom;-AAG 143;0|4 N N - 2 74641624 74641624 G C snp synonymous SNV C1599G P533P hydrophobic,neutral hydrophobic,neutral C2orf81 1700003E16Rik ENSG00000284308 chromosome 2 open reading frame 81 chr2:74641304-74648718 http://www.genecards.org/index.php?path=/Search/keyword/C2orf81 http://www.informatics.jax.org/searchtool/Search.do?query=C2orf81&submit=Quick%0D%22980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C2orf81 rs2240444 0.545128 0.3342 0.2956 1 0 0 exonic exonic exonic C2orf81 C2orf81 ENSG00000159239 synonymous SNV synonymous SNV unknown C2orf81:NM_001145054:exon4:c.C1599G:p.P533P, C2orf81:uc010yrq.1:exon4:c.C1599G:p.P533P, UNKNOWN Het;G>C 2720;122|121 Ref Hom;G>C 5644;0|215 N N - 2 74654087 74654087 C T snp intronic RTKN Rtkn ENSG00000114993 rhotekin chr2:74652963-74669549 This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] RHO GTPases Activate Rhotekin and Rhophilins GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IDA|GO:0007266;Rho protein signal transduction;IDA|GO:0034260;negative regulation of GTPase activity;IEA|GO:0042981;regulation of apoptotic process;IDA GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0005095;GTPase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0017048;Rho GTPase binding;IEA|GO:0017049;GTP-Rho binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RTKN https://www.uniprot.org/uniprot/Q9BST9 https://www.ncbi.nlm.nih.gov/omim/?term=602288 http://www.informatics.jax.org/searchtool/Search.do?query=RTKN&submit=Quick%0D%4527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTKN rs2268421 0.551118 0 0 1 0 0 intronic intronic intronic RTKN RTKN ENSG00000114993 Na Na Na Na Na Na Het;C>T 73;1|3 Ref Hom;C>T 202;0|6 N N - 2 74682512 74682512 C T snp nonsynonymous SNV C92T S31L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral INO80B Ino80b ENSG00000115274 INO80 complex subunit B chr2:74682150-74688011 This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011] DNA Damage Recognition in GG-NER GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016579;protein deubiquitination;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0031011;Ino80 complex;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/INO80B https://www.uniprot.org/uniprot/Q9C086 https://www.ncbi.nlm.nih.gov/omim/?term=616456 http://www.informatics.jax.org/searchtool/Search.do?query=INO80B&submit=Quick%0D%4573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INO80B rs2268417 0.538538 0.3538 0.2809 1 0 0 ncRNA_intronic exonic intronic INO80B-WBP1 INO80B ENSG00000115274 Na nonsynonymous SNV Na Na INO80B:uc010yrs.2:exon1:c.C92T:p.S31L, Na Het;C>T 546;17|24 Ref Hom;C>T 1007;0|36 N N - 2 74687258 74687258 A ACACATTT indel ncRNA_intronic INO80B-WBP1 rs113321228 0.424521 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic INO80B-WBP1 INO80B-WBP1 ENSG00000115274,ENSG00000239779 Na Na Na Na Na Na Het;+CACATTT 931;27|25 Ref Hom;+CACATTT 2559;0|57 N N - 2 74690039 74690039 G A snp nonsynonymous SNV C520T P174S hydrophobic,neutral polar,hydrophilic,neutral MOGS Mogs ENSG00000115275 mannosyl-oligosaccharide glucosidase chr2:74688184-74692537 This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Congenital Disorders of Glycosylation N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006487;protein N-linked glycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009311;oligosaccharide metabolic process;IEA GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004573;mannosyl-oligosaccharide glucosidase activity;TAS|GO:0015926;glucosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/MOGS https://www.uniprot.org/uniprot/Q13724 https://hpo.jax.org/app/browse/search?q=MOGS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601336 http://www.informatics.jax.org/searchtool/Search.do?query=MOGS&submit=Quick%0D%4574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MOGS rs2268416 0.538738 0.3337 0.2792 0.08 1 13 exonic exonic exonic MOGS MOGS ENSG00000115275 nonsynonymous SNV nonsynonymous SNV unknown MOGS:NM_001146158:exon5:c.C559T:p.P187S,MOGS:NM_006302:exon4:c.C877T:p.P293S, MOGS:uc010yrt.2:exon3:c.C520T:p.P174S,MOGS:uc010ffj.3:exon4:c.C877T:p.P293S,MOGS:uc010ffh.3:exon2:c.C52T:p.P18S,MOGS:uc010ffi.3:exon5:c.C559T:p.P187S, UNKNOWN Het;G>A 2807;145|125 Ref Hom;G>A 7006;3|257 N N - 2 74690378 74690378 C T snp nonsynonymous SNV G358A D120N polar,hydrophilic,charged(-) polar,hydrophilic,neutral MOGS Mogs ENSG00000115275 mannosyl-oligosaccharide glucosidase chr2:74688184-74692537 This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Congenital Disorders of Glycosylation N-glycan trimming in the ER and Calnexin/Calreticulin cycle GO:0006457;protein folding;TAS|GO:0006487;protein N-linked glycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009311;oligosaccharide metabolic process;IEA GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004573;mannosyl-oligosaccharide glucosidase activity;TAS|GO:0015926;glucosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/MOGS https://www.uniprot.org/uniprot/Q13724 https://hpo.jax.org/app/browse/search?q=MOGS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601336 http://www.informatics.jax.org/searchtool/Search.do?query=MOGS&submit=Quick%0D%4574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MOGS rs1063588 0.51877 0.3090 0.2669 0.46 6 13 exonic exonic exonic MOGS MOGS ENSG00000115275 nonsynonymous SNV nonsynonymous SNV unknown MOGS:NM_001146158:exon4:c.G397A:p.D133N,MOGS:NM_006302:exon3:c.G715A:p.D239N, MOGS:uc010yrt.2:exon2:c.G358A:p.D120N,MOGS:uc010ffj.3:exon3:c.G715A:p.D239N,MOGS:uc010ffi.3:exon4:c.G397A:p.D133N, UNKNOWN Het;C>T 274;26|16 Ref Hom;C>T 827;0|30 N N - 2 74699778 74699778 C A snp nonsynonymous SNV G10T A4S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MRPL53 Mrpl53 ENSG00000204822 mitochondrial ribosomal protein L53 chr2:74699085-74700449 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008] Mitochondrial translation termination GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MRPL53 https://www.ncbi.nlm.nih.gov/omim/?term=611857 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL53&submit=Quick%0D%17400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL53 rs1047911 0.516773 0.3306 0.2680 0.08 1 13 exonic exonic exonic MRPL53 MRPL53 ENSG00000204822 nonsynonymous SNV nonsynonymous SNV unknown MRPL53:NM_053050:exon1:c.G10T:p.A4S, MRPL53:uc002sln.3:exon1:c.G10T:p.A4S, UNKNOWN Het;C>A 1766;75|72 Ref Hom;C>A 4127;4|151 N N - 2 74710491 74710491 C T snp nonsynonymous SNV C83T A28V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TTC31 ENSG00000115282 tetratricopeptide repeat domain 31 chr2:74710200-74722013 http://www.genecards.org/index.php?path=/Search/keyword/TTC31 https://www.uniprot.org/uniprot/Q49AM3 http://www.informatics.jax.org/searchtool/Search.do?query=TTC31&submit=Quick%0D%4575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC31 rs6707475 0.547324 0.3419 0.2797 0.08 1 13 exonic exonic exonic TTC31 TTC31 ENSG00000115282 nonsynonymous SNV nonsynonymous SNV unknown TTC31:NM_022492:exon2:c.C83T:p.A28V, TTC31:uc002slt.2:exon2:c.C83T:p.A28V, UNKNOWN Het;C>T 1069;66|52 Ref Hom;C>T 2272;0|87 N N - 2 74719910 74719910 G T snp UTR3 *550G>T TTC31 ENSG00000115282 tetratricopeptide repeat domain 31 chr2:74710200-74722013 http://www.genecards.org/index.php?path=/Search/keyword/TTC31 https://www.uniprot.org/uniprot/Q49AM3 http://www.informatics.jax.org/searchtool/Search.do?query=TTC31&submit=Quick%0D%4575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC31 rs17009980 0.333267 0.1330 0.2155 1 0 0 intronic intronic UTR3 TTC31 TTC31 ENSG00000115282(ENST00000410003:c.*550G>T,ENST00000449459:c.*1501G>T) Na Na Na Na Na Na Het;G>T 806;58|32 Ref Hom;G>T 1948;0|72 N N - 2 74721055 74721055 A G snp UTR3 *1810A>G TTC31 ENSG00000115282 tetratricopeptide repeat domain 31 chr2:74710200-74722013 http://www.genecards.org/index.php?path=/Search/keyword/TTC31 https://www.uniprot.org/uniprot/Q49AM3 http://www.informatics.jax.org/searchtool/Search.do?query=TTC31&submit=Quick%0D%4575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC31 rs2301984 0.538339 0 0 1 0 0 UTR3 UTR3 UTR3 TTC31(NM_022492:c.*710A>G) TTC31(uc002slt.2:c.*710A>G,uc002slu.2:c.*710A>G) ENSG00000115282(ENST00000424122:c.*1810A>G,ENST00000410003:c.*1695A>G,ENST00000233623:c.*710A>G) Na Na Na Na Na Na Het;A>G 2066;96|96 Ref Hom;A>G 4152;1|149 N N - 2 74725178 74725178 G A snp nonsynonymous SNV C473T S158F polar,hydrophilic,neutral aromatic,hydrophobic,neutral LBX2 Lbx2 ENSG00000179528 ladybird homeobox 2 chr2:74724644-74730443 Mice homozygous for a knock-out allele are viable, fertile and healthy with no gross developmental defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LBX2 https://www.ncbi.nlm.nih.gov/omim/?term=607164 http://www.informatics.jax.org/searchtool/Search.do?query=LBX2&submit=Quick%0D%14350ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LBX2 rs17009998 0.333067 0.1385 0.2155 0.23 3 13 exonic exonic exonic LBX2 LBX2 ENSG00000179528 nonsynonymous SNV nonsynonymous SNV unknown LBX2:NM_001009812:exon2:c.C461T:p.S154F,LBX2:NM_001282430:exon2:c.C473T:p.S158F, LBX2:uc002slv.4:exon2:c.C473T:p.S158F,LBX2:uc002slw.3:exon2:c.C461T:p.S154F, UNKNOWN Het;G>A 962;71|47 Ref Hom;G>A 3409;0|123 N N - 2 74726760 74726760 C T snp UTR5 -96G>A LBX2 Lbx2 ENSG00000179528 ladybird homeobox 2 chr2:74724644-74730443 Mice homozygous for a knock-out allele are viable, fertile and healthy with no gross developmental defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LBX2 https://www.ncbi.nlm.nih.gov/omim/?term=607164 http://www.informatics.jax.org/searchtool/Search.do?query=LBX2&submit=Quick%0D%14350ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LBX2 rs11688069 0.333466 0 0 1 0 0 intronic intronic UTR5 LBX2 LBX2 ENSG00000179528(ENST00000377566:c.-96G>A) Na Na Na Na Na Na Het;C>T 185;5|8 Ref Hom;C>T 547;0|18 N N - 2 74732415 74732415 T G snp intronic PCGF1 Pcgf1 ENSG00000115289 polycomb group ring finger 1 chr2:74732170-74735707 PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0035518;histone H2A monoubiquitination;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0031519;PcG protein complex;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCGF1 https://www.uniprot.org/uniprot/Q9BSM1 https://www.ncbi.nlm.nih.gov/omim/?term=610231 http://www.informatics.jax.org/searchtool/Search.do?query=PCGF1&submit=Quick%0D%4577ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCGF1 rs2240443 0.520367 0.3260 0.2829 1 0 0 intronic intronic intronic PCGF1 PCGF1 ENSG00000115289 Na Na Na Na Na Na Het;T>G 1575;45|58 Ref Hom;T>G 2376;2|81 N N - 2 74755778 74755778 A C snp UTR3 *370T>G AUP1 Aup1 ENSG00000115307 ancient ubiquitous protein 1 chr2:74753772-74757066 The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0050790;regulation of catalytic activity;IEA GO:0000839;Hrd1p ubiquitin ligase ERAD-L complex;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA|GO:0097027;ubiquitin-protein transferase activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/AUP1 https://www.uniprot.org/uniprot/Q9Y679 https://www.ncbi.nlm.nih.gov/omim/?term=602434 http://www.informatics.jax.org/searchtool/Search.do?query=AUP1&submit=Quick%0D%4582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUP1 rs10779958 0.502596 0 0 1 0 0 intronic UTR3 intronic AUP1 AUP1(uc010yry.2:c.*370T>G) ENSG00000115307 Na Na Na Na Na Na Het;A>C 92;9|5 Ref Hom;A>C 221;0|6 N N - 2 74756111 74756111 G GA indel frameshift substitution 18_18delinsTC AUP1 Aup1 ENSG00000115307 ancient ubiquitous protein 1 chr2:74753772-74757066 The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0050790;regulation of catalytic activity;IEA GO:0000839;Hrd1p ubiquitin ligase ERAD-L complex;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA|GO:0097027;ubiquitin-protein transferase activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/AUP1 https://www.uniprot.org/uniprot/Q9Y679 https://www.ncbi.nlm.nih.gov/omim/?term=602434 http://www.informatics.jax.org/searchtool/Search.do?query=AUP1&submit=Quick%0D%4582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUP1 rs3835033 0.485423 0.2792 0.3108 1 0 0 intronic exonic intronic AUP1 AUP1 ENSG00000115307 Na frameshift substitution Na Na AUP1:uc021vjm.1:exon3:c.18_18delinsTC,AUP1:uc002smh.3:exon3:c.18_18delinsTC, Na Het;+A 1201;69|69 Ref Hom;+A 2342;8|101 N N - 2 74756176 74756176 G C snp nonsynonymous SNV C422G P141R hydrophobic,neutral polar,hydrophilic,charged(+) AUP1 Aup1 ENSG00000115307 ancient ubiquitous protein 1 chr2:74753772-74757066 The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0050790;regulation of catalytic activity;IEA GO:0000839;Hrd1p ubiquitin ligase ERAD-L complex;IBA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IBA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA|GO:0097027;ubiquitin-protein transferase activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/AUP1 https://www.uniprot.org/uniprot/Q9Y679 https://www.ncbi.nlm.nih.gov/omim/?term=602434 http://www.informatics.jax.org/searchtool/Search.do?query=AUP1&submit=Quick%0D%4582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUP1 rs2231250 0.5 0 0.2783 1 0 0 intronic exonic intronic AUP1 AUP1 ENSG00000115307 Na nonsynonymous SNV Na Na AUP1:uc010yry.2:exon3:c.C422G:p.P141R, Na Het;G>C 3045;157|131 Ref Hom;G>C 5382;0|192 N N - 2 74789700 74789700 A T snp intronic M1AP M1ap ENSG00000159374 meiosis 1 associated protein chr2:74785010-74875465 This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Respiratory Function Tests Mice homozygous for a gene trap allele exhibit male infertility with oligospermia, globozooaspermiam decreased testies weight and size, degeneration of seminiferous tubules, male germ cell apoptosis and arrested male meiosis. GO:0006396;RNA processing;NAS|GO:0007127;meiosis I;IEA|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;ISS|GO:0030154;cell differentiation;IEA|GO:0031497;chromatin assembly;NAS|GO:0051308;male meiosis chromosome separation;IEA GO:0005737;cytoplasm;IEA|GO:0016021;integral component of membrane;NAS GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/M1AP http://www.informatics.jax.org/searchtool/Search.do?query=M1AP&submit=Quick%0D%10329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=M1AP rs11126435 0.547324 0 0 1 0 0 intronic intronic intronic M1AP M1AP ENSG00000159374 Na Na Na Na Na Na Het;A>T 237;5|8 Ref Hom;A>T 181;0|6 N N - 2 74901602 74901602 C T snp UTR3 *992C>T SEMA4F Sema4f ENSG00000135622 ssemaphorin 4F chr2:74881355-74909186 This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] dyslexia; Iris GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA4F https://www.uniprot.org/uniprot/O95754 https://www.ncbi.nlm.nih.gov/omim/?term=603706 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4F&submit=Quick%0D%7189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4F rs363608 0.408347 0.2274 0.2449 1 0 0 intronic UTR3 intronic SEMA4F SEMA4F(uc010ysb.2:c.*992C>T) ENSG00000135622 Na Na Na Na Na Na Het;C>T 981;33|41 Ref Hom;C>T 1372;0|52 N N - 2 74902872 74902872 A G snp intronic SEMA4F Sema4f ENSG00000135622 ssemaphorin 4F chr2:74881355-74909186 This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] dyslexia; Iris GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA4F https://www.uniprot.org/uniprot/O95754 https://www.ncbi.nlm.nih.gov/omim/?term=603706 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4F&submit=Quick%0D%7189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4F rs363609 0.530751 0.3476 0.2763 1 0 0 intronic intronic intronic SEMA4F SEMA4F ENSG00000135622 Na Na Na Na Na Na Het;A>G 2006;65|84 Ref Hom;A>G 3534;0|123 N N - 2 74907964 74907964 A G snp UTR3 *628A>G SEMA4F Sema4f ENSG00000135622 ssemaphorin 4F chr2:74881355-74909186 This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] dyslexia; Iris GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA4F https://www.uniprot.org/uniprot/O95754 https://www.ncbi.nlm.nih.gov/omim/?term=603706 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4F&submit=Quick%0D%7189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4F rs3771749 0.533147 0 0 1 0 0 UTR3 UTR3 UTR3 SEMA4F(NM_004263:c.*628A>G,NM_001271662:c.*628A>G,NM_001271661:c.*628A>G) SEMA4F(uc002sna.2:c.*628A>G,uc010ffq.2:c.*628A>G,uc002snb.2:c.*628A>G,uc010ffr.2:c.*628A>G,uc002snc.2:c.*628A>G) ENSG00000135622(ENST00000357877:c.*628A>G) Na Na Na Na Na Na Het;A>G 1230;83|57 Ref Hom;A>G 4896;0|173 N N - 2 74908299 74908299 C T snp UTR3 *963C>T SEMA4F Sema4f ENSG00000135622 ssemaphorin 4F chr2:74881355-74909186 This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] dyslexia; Iris GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA4F https://www.uniprot.org/uniprot/O95754 https://www.ncbi.nlm.nih.gov/omim/?term=603706 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4F&submit=Quick%0D%7189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4F rs3025994 0.475639 0 0 1 0 0 UTR3 UTR3 UTR3 SEMA4F(NM_004263:c.*963C>T,NM_001271662:c.*963C>T,NM_001271661:c.*963C>T) SEMA4F(uc002sna.2:c.*963C>T,uc010ffq.2:c.*963C>T,uc002snb.2:c.*963C>T,uc010ffr.2:c.*963C>T,uc002snc.2:c.*963C>T) ENSG00000135622(ENST00000357877:c.*963C>T) Na Na Na Na Na Na Het;C>T 2037;93|84 Ref Hom;C>T 3411;1|121 N N - 2 74909765 74909765 T C snp UTR3 *2429T>C SEMA4F Sema4f ENSG00000135622 ssemaphorin 4F chr2:74881355-74909186 This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] dyslexia; Iris GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA4F https://www.uniprot.org/uniprot/O95754 https://www.ncbi.nlm.nih.gov/omim/?term=603706 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4F&submit=Quick%0D%7189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4F rs6716578 0.336262 0 0 1 0 0 UTR3 UTR3 downstream SEMA4F(NM_004263:c.*2429T>C,NM_001271662:c.*2429T>C,NM_001271661:c.*2429T>C) SEMA4F(uc002sna.2:c.*2429T>C,uc010ffq.2:c.*2429T>C,uc002snb.2:c.*2429T>C,uc010ffr.2:c.*2429T>C,uc002snc.2:c.*2429T>C) ENSG00000135622 Na Na Na Na Na Na Het;T>C 1812;64|76 Ref Hom;T>C 4236;0|144 N N - 2 74911073 74911073 T C snp downstream SEMA4F Sema4f ENSG00000135622 ssemaphorin 4F chr2:74881355-74909186 This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] dyslexia; Iris GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0030154;cell differentiation;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA4F https://www.uniprot.org/uniprot/O95754 https://www.ncbi.nlm.nih.gov/omim/?term=603706 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4F&submit=Quick%0D%7189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4F rs363612 0.52476 0 0 1 0 0 downstream downstream intergenic SEMA4F SEMA4F ENSG00000135622(dist=1887),ENSG00000224646(dist=70724) Na Na Na Na Na Na Het;T>C 322;33|17 Ref Hom;T>C 951;0|34 N N - 2 75768077 75768077 C A snp ncRNA_intronic AC007099.1 rs6713572 0.530751 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101927884 EVA1A ENSG00000231172 Na Na Na Na Na Na Het;C>A 419;16|17 Ref Hom;C>A 1343;0|41 N N - 2 75877409 75877410 GA G indel intronic MRPL19 Mrpl19 ENSG00000115364 mitochondrial ribosomal protein L19 chr2:75873909-75917977 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mitochondrial translation termination GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA GO:0003735;structural constituent of ribosome;IBA http://www.genecards.org/index.php?path=/Search/keyword/MRPL19 https://www.uniprot.org/uniprot/P49406 https://www.ncbi.nlm.nih.gov/omim/?term=611832 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19 rs3836196 0.319089 0 0 1 0 0 intronic intronic intronic MRPL19 MRPL19 ENSG00000115364 Na Na Na Na Na Na Het;-A 169;3|9 Ref Hom;-A 456;0|18 N N - 2 75877578 75877578 C T snp intronic MRPL19 Mrpl19 ENSG00000115364 mitochondrial ribosomal protein L19 chr2:75873909-75917977 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mitochondrial translation termination GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA GO:0003735;structural constituent of ribosome;IBA http://www.genecards.org/index.php?path=/Search/keyword/MRPL19 https://www.uniprot.org/uniprot/P49406 https://www.ncbi.nlm.nih.gov/omim/?term=611832 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19 rs1990144 0.488818 0 0 1 0 0 intronic intronic intronic MRPL19 MRPL19 ENSG00000115364 Na Na Na Na Na Na Het;C>T 543;15|25 Ref Hom;C>T 1348;0|51 N N - 2 75877650 75877650 G A snp intronic MRPL19 Mrpl19 ENSG00000115364 mitochondrial ribosomal protein L19 chr2:75873909-75917977 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mitochondrial translation termination GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA GO:0003735;structural constituent of ribosome;IBA http://www.genecards.org/index.php?path=/Search/keyword/MRPL19 https://www.uniprot.org/uniprot/P49406 https://www.ncbi.nlm.nih.gov/omim/?term=611832 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19 rs1990145 0.282947 0 0 1 0 0 intronic intronic intronic MRPL19 MRPL19 ENSG00000115364 Na Na Na Na Na Na Het;G>A 349;11|13 Ref Hom;G>A 464;2|17 N N - 2 75877812 75877812 G A snp intronic MRPL19 Mrpl19 ENSG00000115364 mitochondrial ribosomal protein L19 chr2:75873909-75917977 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] dyslexia; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mitochondrial translation termination GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031965;nuclear membrane;IDA GO:0003735;structural constituent of ribosome;IBA http://www.genecards.org/index.php?path=/Search/keyword/MRPL19 https://www.uniprot.org/uniprot/P49406 https://www.ncbi.nlm.nih.gov/omim/?term=611832 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL19&submit=Quick%0D%4593ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL19 rs3771875 0.698682 0 0 1 0 0 intronic intronic intronic MRPL19 MRPL19 ENSG00000115364 Na Na Na Na Na Na Het;G>A 191;5|8 Ref Hom;G>A 178;0|7 N N - 2 76037964 76037964 G A snp intergenic GCFC2 Gcfc2 ENSG00000005436 GC-rich sequence DNA-binding factor 2 chr2:75879126-75938115 The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008] dyslexia; Acute lymphoblastic leukemia mRNA Splicing - Major Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000245;spliceosomal complex assembly;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0045892;negative regulation of transcription, DNA-templated;NAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0071008;U2-type post-mRNA release spliceosomal complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCFC2 https://www.uniprot.org/uniprot/P16383 https://www.ncbi.nlm.nih.gov/omim/?term=189901 http://www.informatics.jax.org/searchtool/Search.do?query=GCFC2&submit=Quick%0D%363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCFC2 rs58550687 0.539137 0 0 1 0 0 intergenic intergenic intergenic GCFC2(dist=99853),LRRTM4(dist=936886) GCFC2(dist=99853),LRRTM4(dist=936886) ENSG00000270996(dist=90820),ENSG00000233107(dist=295178) Na Na Na Na Na Na Het;G>A 234;23|13 Ref Hom;G>A 1587;0|62 N N - 2 76137814 76137814 A G snp intergenic GCFC2 Gcfc2 ENSG00000005436 GC-rich sequence DNA-binding factor 2 chr2:75879126-75938115 The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008] dyslexia; Acute lymphoblastic leukemia mRNA Splicing - Major Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000245;spliceosomal complex assembly;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0045892;negative regulation of transcription, DNA-templated;NAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0071008;U2-type post-mRNA release spliceosomal complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCFC2 https://www.uniprot.org/uniprot/P16383 https://www.ncbi.nlm.nih.gov/omim/?term=189901 http://www.informatics.jax.org/searchtool/Search.do?query=GCFC2&submit=Quick%0D%363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCFC2 rs10198455 0.616014 0 0 1 0 0 intergenic intergenic intergenic GCFC2(dist=199703),LRRTM4(dist=837036) GCFC2(dist=199703),LRRTM4(dist=837036) ENSG00000270996(dist=190670),ENSG00000233107(dist=195328) Na Na Na Na Na Na Het;A>G 371;12|14 Ref Hom;A>G 606;0|18 N N - 2 77022822 77022822 C A snp intronic LRRTM4 Lrrtm4 ENSG00000176204 leucine rich repeat transmembrane neuronal 4 chr2:76974845-77820445 Body Mass Index; Forced Expiratory Volume; Insulin Resistance; Carotid Arteries; Tobacco Use Disorder; Iron; Insulin Mice homozygous for a knock-out allele exhibit impaired excitatory synapse development and excitatory transmission in dentate gyrus granule cells. Neurexins and neuroligins GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050808;synapse organization;IEA GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LRRTM4 https://www.ncbi.nlm.nih.gov/omim/?term=610870 http://www.informatics.jax.org/searchtool/Search.do?query=LRRTM4&submit=Quick%0D%13819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRTM4 rs67157909 0.553514 0 0 1 0 0 intronic intronic intronic LRRTM4 LRRTM4 ENSG00000176204 Na Na Na Na Na Na Het;C>A 137;23|9 Ref Hom;C>A 596;0|22 N N - 2 77022861 77022861 T C snp intronic LRRTM4 Lrrtm4 ENSG00000176204 leucine rich repeat transmembrane neuronal 4 chr2:76974845-77820445 Body Mass Index; Forced Expiratory Volume; Insulin Resistance; Carotid Arteries; Tobacco Use Disorder; Iron; Insulin Mice homozygous for a knock-out allele exhibit impaired excitatory synapse development and excitatory transmission in dentate gyrus granule cells. Neurexins and neuroligins GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0050808;synapse organization;IEA GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/LRRTM4 https://www.ncbi.nlm.nih.gov/omim/?term=610870 http://www.informatics.jax.org/searchtool/Search.do?query=LRRTM4&submit=Quick%0D%13819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRTM4 rs66650355 0.553514 0 0 1 0 0 intronic intronic intronic LRRTM4 LRRTM4 ENSG00000176204 Na Na Na Na Na Na Het;T>C 101;24|7 Ref Hom;T>C 432;0|16 N N - 2 79278471 79278471 A AT indel intergenic REG3G Reg3g ENSG00000143954 regenerating family member 3 gamma chr2:79252812-79255631 This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Nov 2014] Mice homozygous for a knock-out allele eshibit increased mucosal bacterial loads, T-helper 1 cells, and intestinal permeability. Antimicrobial peptides GO:0002755;MyD88-dependent toll-like receptor signaling pathway;ISS|GO:0006953;acute-phase response;IEA|GO:0006954;inflammatory response;IEA|GO:0010838;positive regulation of keratinocyte proliferation;ISS|GO:0019730;antimicrobial humoral response;TAS|GO:0045617;negative regulation of keratinocyte differentiation;ISS|GO:0050830;defense response to Gram-positive bacterium;ISS|GO:0090303;positive regulation of wound healing;ISS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/REG3G https://www.uniprot.org/uniprot/Q6UW15 https://www.ncbi.nlm.nih.gov/omim/?term=609933 http://www.informatics.jax.org/searchtool/Search.do?query=REG3G&submit=Quick%0D%8543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REG3G Na 0 0 0 1 0 0 intergenic intergenic intergenic REG3G(dist=22841),REG1B(dist=33678) REG3G(dist=22841),REG1B(dist=33678) ENSG00000143954(dist=22840),ENSG00000172023(dist=33685) Na Na Na Na Na Na Het;+T 160;4|5 Ref Hom;+T 98;0|3 N N - 2 79278472 79278472 A AGAT indel intergenic REG3G Reg3g ENSG00000143954 regenerating family member 3 gamma chr2:79252812-79255631 This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Nov 2014] Mice homozygous for a knock-out allele eshibit increased mucosal bacterial loads, T-helper 1 cells, and intestinal permeability. Antimicrobial peptides GO:0002755;MyD88-dependent toll-like receptor signaling pathway;ISS|GO:0006953;acute-phase response;IEA|GO:0006954;inflammatory response;IEA|GO:0010838;positive regulation of keratinocyte proliferation;ISS|GO:0019730;antimicrobial humoral response;TAS|GO:0045617;negative regulation of keratinocyte differentiation;ISS|GO:0050830;defense response to Gram-positive bacterium;ISS|GO:0090303;positive regulation of wound healing;ISS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/REG3G https://www.uniprot.org/uniprot/Q6UW15 https://www.ncbi.nlm.nih.gov/omim/?term=609933 http://www.informatics.jax.org/searchtool/Search.do?query=REG3G&submit=Quick%0D%8543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REG3G Na 0 0 0 1 0 0 intergenic intergenic intergenic REG3G(dist=22842),REG1B(dist=33677) REG3G(dist=22842),REG1B(dist=33677) ENSG00000143954(dist=22841),ENSG00000172023(dist=33684) Na Na Na Na Na Na Het;+GAT 160;4|5 Ref Hom;+GAT 98;0|3 N N - 2 79586600 79586600 A G snp intronic CTNNA2 Ctnna2 ENSG00000066032 catenin alpha 2 chr2:79412357-80875905 smoking cessation; Body Mass Index; Alcoholism; Celiac Disease|; Tobacco Use Disorder; Coronary Artery Disease; Blood Pressure; Insulin Resistance; Interleukin-10; Adult ADHD | attention deficit hyperactivity disorder; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules; Pancreatic Neoplasms; Lipoproteins, HDL; Heart Rate; Waist-Hip Ratio; Bipolar disorder; Body Weight; Arteries; Glucose Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus. CDO in myogenesis GO:0007010;cytoskeleton organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;ISS|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0021942;radial glia guided migration of Purkinje cell;ISS|GO:0030154;cell differentiation;IEA|GO:0048813;dendrite morphogenesis;ISS|GO:0048854;brain morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051823;regulation of synapse structural plasticity;ISS|GO:0060134;prepulse inhibition;ISS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA2 https://www.uniprot.org/uniprot/P26232 https://hpo.jax.org/app/browse/search?q=CTNNA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114025 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA2&submit=Quick%0D%1203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA2 rs17016923 0.304313 0 0 1 0 0 intergenic intronic intronic REG3A(dist=199720),LOC101927987(dist=134242) CTNNA2 ENSG00000066032 Na Na Na Na Na Na Het;A>G 350;18|16 Het;A>G 235;12|13 Hom;A>G 1015;0|37 N N - 2 8027020 8027020 T C snp ncRNA_exonic LOC101929551 rs2302672 0.71845 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929551 LOC100506274(dist=436639),LOC339788(dist=35536) ENSG00000226506 Na Na Na Na Na Na Het;T>C 1856;61|81 Ref Hom;T>C 3865;0|141 N N - 2 8036208 8036208 T C snp ncRNA_exonic LOC101929551 rs2066946 0.716454 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929551 LOC100506274(dist=445827),LOC339788(dist=26348) ENSG00000226506 Na Na Na Na Na Na Het;T>C 753;44|36 Ref Hom;T>C 2374;0|89 N N - 2 80772972 80772972 G A snp intronic CTNNA2 Ctnna2 ENSG00000066032 catenin alpha 2 chr2:79412357-80875905 smoking cessation; Body Mass Index; Alcoholism; Celiac Disease|; Tobacco Use Disorder; Coronary Artery Disease; Blood Pressure; Insulin Resistance; Interleukin-10; Adult ADHD | attention deficit hyperactivity disorder; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone; Cell Adhesion Molecules; Pancreatic Neoplasms; Lipoproteins, HDL; Heart Rate; Waist-Hip Ratio; Bipolar disorder; Body Weight; Arteries; Glucose Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus. CDO in myogenesis GO:0007010;cytoskeleton organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;ISS|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0021942;radial glia guided migration of Purkinje cell;ISS|GO:0030154;cell differentiation;IEA|GO:0048813;dendrite morphogenesis;ISS|GO:0048854;brain morphogenesis;ISS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051823;regulation of synapse structural plasticity;ISS|GO:0060134;prepulse inhibition;ISS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA2 https://www.uniprot.org/uniprot/P26232 https://hpo.jax.org/app/browse/search?q=CTNNA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114025 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA2&submit=Quick%0D%1203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA2 rs2276659 0.497005 0 0 1 0 0 intronic intronic intronic CTNNA2 CTNNA2 ENSG00000066032 Na Na Na Na Na Na Het;G>A 747;29|28 Ref Hom;G>A 1591;0|53 N N - 2 80974955 80974955 A AGCTTAACTATAAGCTTATAGTTTATAAC indel ncRNA_intronic AC012355.1 rs141176832 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic CTNNA2(dist=98967),LOC100507201(dist=713528) CTNNA2(dist=98967),5S_rRNA(dist=748383) ENSG00000230975 Na Na Na Na Na Na Het;+GCTTAACTATAAGCTTATAGTTTATAAC 818;44|15 Het;+GCTTAACTATAAGCTTATAGTTTATAAC 497;31|8 Hom;+GCTTAACTATAAGCTTATAGTTTATAAC 1806;0|21 N N - 2 81025058 81025058 C T snp ncRNA_intronic AC012355.1 rs12714018 0.285343 0 0 1 0 0 intergenic intergenic ncRNA_intronic CTNNA2(dist=149070),LOC100507201(dist=663425) CTNNA2(dist=149070),5S_rRNA(dist=698280) ENSG00000230975 Na Na Na Na Na Na Het;C>T 1140;96|57 Het;C>T 1707;89|86 Hom;C>T 4733;3|185 N N - 2 81025111 81025111 T G snp ncRNA_intronic AC012355.1 rs7561634 0.655351 0 0 1 0 0 intergenic intergenic ncRNA_intronic CTNNA2(dist=149123),LOC100507201(dist=663372) CTNNA2(dist=149123),5S_rRNA(dist=698227) ENSG00000230975 Na Na Na Na Na Na Het;T>G 483;48|21 Het;T>G 771;34|36 Hom;T>G 1720;0|61 N N - 2 83534867 83534867 A AT indel intergenic LOC1720 rs397732861 0.482029 0 0 1 0 0 intergenic intergenic intergenic LOC1720(dist=449974),FUNDC2P2(dist=982939) LOC1720(dist=449974),FUNDC2P2(dist=982939) ENSG00000223977(dist=88638),ENSG00000232548(dist=215071) Na Na Na Na Na Na Het;+T 869;41|30 Het;+T 1197;23|38 Hom;+T 3022;0|82 N N - 2 84434434 84434434 A G snp intergenic LOC1720 rs2364243 0.717652 0 0 1 0 0 intergenic intergenic intergenic LOC1720(dist=1349541),FUNDC2P2(dist=83372) LOC1720(dist=1349541),FUNDC2P2(dist=83372) ENSG00000228902(dist=166590),ENSG00000182814(dist=83372) Na Na Na Na Na Na Het;A>G 192;11|7 Het;A>G 136;7|5 Hom;A>G 230;0|8 N N - 2 84518438 84518438 T C snp ncRNA_exonic FUNDC2P2 rs1968722 0.635583 0 0.7300 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic FUNDC2P2 FUNDC2P2(uc010ffz.1:c.*40T>C) ENSG00000182814 Na Na Na Na Na Na Het;T>C 1302;69|52 Het;T>C 1633;62|68 Hom;T>C 2666;0|93 N N - 2 84518609 84518609 C T snp ncRNA_exonic FUNDC2P2 rs1531047 0.634984 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic FUNDC2P2 FUNDC2P2(uc010ffz.1:c.*211C>T) ENSG00000182814 Na Na Na Na Na Na Het;C>T 4750;158|135 Het;C>T 3671;195|112 Hom;C>T 9419;0|223 N N - 2 84518632 84518632 A G snp ncRNA_exonic FUNDC2P2 rs2124178 0.985423 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic FUNDC2P2 FUNDC2P2(uc010ffz.1:c.*234A>G) ENSG00000182814 Na Na Na Na Na Na Het;A>G 4800;145|133 Het;A>G 3683;201|112 Hom;A>G 9833;0|234 N N - 2 84518884 84518884 T TA indel ncRNA_exonic FUNDC2P2 rs11399478 0.875 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic FUNDC2P2 FUNDC2P2(uc010ffz.1:c.*486T>TA) ENSG00000182814 Na Na Na Na Na Na Het;+A 1476;62|72 Het;+A 1665;80|83 Hom;+A 2952;9|124 N N - 2 84650707 84650707 A G snp UTR3 *163T>C SUCLG1 Suclg1 ENSG00000163541 succinate-CoA ligase alpha subunit chr2:84650647-84687169 This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010] Acquired Immunodeficiency Syndrome|Disease Progression Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004775;succinate-CoA ligase (ADP-forming) activity;IEA|GO:0004776;succinate-CoA ligase (GDP-forming) activity;IEA|GO:0016874;ligase activity;IEA|GO:0048037;cofactor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUCLG1 https://hpo.jax.org/app/browse/search?q=SUCLG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611224 http://www.informatics.jax.org/searchtool/Search.do?query=SUCLG1&submit=Quick%0D%11005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUCLG1 rs2832 0.802117 0 0 1 0 0 UTR3 UTR3 UTR3 SUCLG1(NM_003849:c.*163T>C) SUCLG1(uc002son.3:c.*163T>C) ENSG00000163541(ENST00000393868:c.*163T>C) Na Na Na Na Na Na Het;A>G 642;37|29 Het;A>G 747;31|31 Hom;A>G 1996;0|77 N N - 2 84686757 84686757 A G snp upstream SUCLG1 Suclg1 ENSG00000163541 succinate-CoA ligase alpha subunit chr2:84650647-84687169 This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010] Acquired Immunodeficiency Syndrome|Disease Progression Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0008152;metabolic process;IEA GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004775;succinate-CoA ligase (ADP-forming) activity;IEA|GO:0004776;succinate-CoA ligase (GDP-forming) activity;IEA|GO:0016874;ligase activity;IEA|GO:0048037;cofactor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUCLG1 https://hpo.jax.org/app/browse/search?q=SUCLG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611224 http://www.informatics.jax.org/searchtool/Search.do?query=SUCLG1&submit=Quick%0D%11005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUCLG1 rs7561462 0.281749 0 0 1 0 0 upstream upstream upstream SUCLG1 SUCLG1 ENSG00000163541 Na Na Na Na Na Na Het;A>G 71;6|4 Ref Hom;A>G 193;0|7 N N - 2 84756049 84756049 G A snp nonsynonymous SNV G421A V141M aliphatic,hydrophobic,neutral hydrophobic,neutral DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4832089 0.944688 0.9236 0.9488 0.08 1 12 exonic exonic exonic DNAH6 DNAH6 ENSG00000115423 nonsynonymous SNV nonsynonymous SNV unknown DNAH6:NM_001370:exon4:c.G421A:p.V141M, DNAH6:uc010fgb.3:exon4:c.G421A:p.V141M, UNKNOWN Het;G>A 517;19|24 Het;G>A 442;30|20 Hom;G>A 964;0|36 N N - 2 84756341 84756341 T G snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4832090 0.974441 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;T>G 462;8|14 Het;T>G 81;4|4 Hom;T>G 307;0|9 N N - 2 84771480 84771480 G A snp synonymous SNV G786A L262L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs1037863 0.929513 0.9113 0.9439 1 0 0 exonic exonic exonic DNAH6 DNAH6 ENSG00000115423 synonymous SNV synonymous SNV unknown DNAH6:NM_001370:exon5:c.G786A:p.L262L, DNAH6:uc010fgb.3:exon5:c.G786A:p.L262L, UNKNOWN Het;G>A 1358;76|63 Het;G>A 1484;74|69 Hom;G>A 4487;0|157 N N - 2 84771567 84771567 C T snp synonymous SNV C873T S291S polar,hydrophilic,neutral polar,hydrophilic,neutral DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs1542477 0.816693 0.8093 0.8836 1 0 0 exonic exonic exonic DNAH6 DNAH6 ENSG00000115423 synonymous SNV synonymous SNV unknown DNAH6:NM_001370:exon5:c.C873T:p.S291S, DNAH6:uc010fgb.3:exon5:c.C873T:p.S291S, UNKNOWN Het;C>T 828;52|38 Het;C>T 1093;45|52 Hom;C>T 2642;0|96 N N - 2 84774893 84774893 G A snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs12474026 0.816693 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;G>A 120;2|4 Ref Hom;G>A 136;0|4 N N - 2 84800605 84800605 C A snp synonymous SNV C1818A A606A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs11891970 0.929712 0.9088 0.9465 1 0 0 exonic exonic exonic DNAH6 DNAH6 ENSG00000115423 synonymous SNV synonymous SNV unknown DNAH6:NM_001370:exon12:c.C1818A:p.A606A, DNAH6:uc002sop.3:exon6:c.C555A:p.A185A,DNAH6:uc010fgb.3:exon12:c.C1818A:p.A606A,DNAH6:uc002soo.3:exon8:c.C555A:p.A185A, UNKNOWN Het;C>A 1506;109|73 Het;C>A 1447;115|72 Hom;C>A 4722;0|175 N N - 2 84806553 84806553 G A snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs6547569 0.97484 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;G>A 333;5|11 Het;G>A 133;17|7 Hom;G>A 917;0|27 N N - 2 84806942 84806942 C G snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs6547570 0.829073 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;C>G 187;4|7 Het;C>G 220;6|7 Hom;C>G 625;0|19 N N - 2 84822715 84822715 C T snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs6761632 0.866214 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;C>T 340;26|16 Het;C>T 1042;19|40 Hom;C>T 1429;0|49 N N - 2 84831767 84831767 G A snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs7570369 0.808706 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;G>A 47;7|3 Het;G>A 73;4|4 Hom;G>A 99;0|4 N N - 2 84834063 84834063 T C snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4276039 0.97484 0.9593 0.9607 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;T>C 432;13|17 Het;T>C 214;25|12 Hom;T>C 1329;0|47 N N - 2 84834237 84834237 T C snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4441485 0.826278 0.8114 0.8796 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;T>C 583;13|27 Het;T>C 539;26|28 Hom;T>C 2416;0|87 N N - 2 84834375 84834375 C T snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4240194 0.826677 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;C>T 95;1|3 Ref Hom;C>T 373;0|13 N N - 2 84834396 84834396 T A snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4240195 0.826677 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;T>A 95;1|3 Ref Hom;T>A 287;0|7 N N - 2 84834404 84834404 T C snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4240196 0.826677 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;T>C 50;2|2 Ref Hom;T>C 287;0|7 N N - 2 84897361 84897361 T A snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs12470102 0.773163 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;T>A 170;12|8 Het;T>A 275;9|9 Hom;T>A 504;0|15 N N - 2 84897517 84897517 A G snp synonymous SNV A6372G L2124L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs1881095 0.982228 0.9625 0.9733 1 0 0 exonic exonic exonic DNAH6 DNAH6 ENSG00000115423 synonymous SNV synonymous SNV unknown DNAH6:NM_001370:exon39:c.A6372G:p.L2124L, DNAH6:uc010fgb.3:exon39:c.A6372G:p.L2124L,DNAH6:uc002sor.3:exon4:c.A435G:p.L145L, UNKNOWN Het;A>G 1804;53|81 Het;A>G 1514;64|67 Hom;A>G 5396;0|199 N N - 2 84899360 84899360 G A snp intronic DNAH6 Dnah6 ENSG00000115423 dynein axonemal heavy chain 6 chr2:84743579-85046713 This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016] Body Weight; C-Reactive Protein; Body Mass Index; Respiratory Function Tests; Survival GO:0001539;cilium or flagellum-dependent cell motility;IEA|GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH6 https://www.uniprot.org/uniprot/Q9C0G6 https://www.ncbi.nlm.nih.gov/omim/?term=603336 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH6&submit=Quick%0D%4602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH6 rs4832106 0.767372 0 0 1 0 0 intronic intronic intronic DNAH6 DNAH6 ENSG00000115423 Na Na Na Na Na Na Het;G>A 261;1|10 Ref Hom;G>A 331;0|13 N N - 2 849864 849866 AAG A indel ncRNA_exonic LINC01115 rs34046814 0.380591 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01115 LOC339822 ENSG00000237667 Na Na Na Na Na Na Het;-AG 1700;43|45 Het;-AG 1170;28|33 Hom;-AG 3620;0|83 N N - 2 849874 849874 A T snp ncRNA_exonic LINC01115 rs7577668 0.727636 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01115 LOC339822 ENSG00000237667 Na Na Na Na Na Na Het;A>T 1693;41|44 Het;A>T 1054;24|26 Hom;A>T 3435;0|75 N N - 2 849912 849914 AGG A indel ncRNA_intronic LOC339822 rs56169510 0.82508 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01115 LOC339822 ENSG00000237667 Na Na Na Na Na Na Het;-GG 560;14|16 Het;-GG 301;7|9 Hom;-GG 896;0|22 N N - 2 85075503 85075503 C T snp intronic TRABD2A ENSG00000186854 TraB domain containing 2A chr2:85048774-85134132 Stroke GO:0006508;proteolysis;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0032461;positive regulation of protein oligomerization;ISS|GO:0060322;head development;ISS|GO:1904808;positive regulation of protein oxidation;ISS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031301;integral component of organelle membrane;IDA GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017147;Wnt-protein binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRABD2A https://www.ncbi.nlm.nih.gov/omim/?term=614912 http://www.informatics.jax.org/searchtool/Search.do?query=TRABD2A&submit=Quick%0D%15722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRABD2A rs79460339 0 0 0 1 0 0 intronic intronic intronic TRABD2A TRABD2A ENSG00000186854 Na Na Na Na Na Na Het;C>T 63;10|5 Ref Hom;C>T 341;1|17 N N - 2 85764960 85764960 G T snp ncRNA_exonic LOC100630918 rs1446668 0.524361 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC100630918 LOC100630918 ENSG00000266577(dist=5211),ENSG00000168906(dist=1328) Na Na Na Na Na Na Het;G>T 2131;68|57 Het;G>T 1162;62|49 Hom;G>T 3501;0|80 N N - 2 85764966 85764966 A T snp ncRNA_exonic LOC100630918 rs1048740 0.288538 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC100630918 LOC100630918 ENSG00000266577(dist=5217),ENSG00000168906(dist=1322) Na Na Na Na Na Na Het;A>T 2050;68|54 Ref Hom;A>T 3507;0|78 N N - 2 85764968 85764968 T G snp ncRNA_exonic LOC100630918 rs1048739 0.288538 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC100630918 LOC100630918 ENSG00000266577(dist=5219),ENSG00000168906(dist=1320) Na Na Na Na Na Na Het;T>G 2029;70|52 Ref Hom;T>G 3482;0|78 N N - 2 85765441 85765441 T G snp ncRNA_exonic LOC100630918 rs1446667 0.28774 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream LOC100630918 LOC100630918 ENSG00000168906 Na Na Na Na Na Na Het;T>G 3555;89|92 Ref Hom;T>G 5669;0|152 N N - 2 85766545 85766545 C T snp intronic MAT2A Mat2a ENSG00000168906 methionine adenosyltransferase 2A chr2:85766288-85772403 The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] Type 2 Diabetes| edema | rosiglitazone; Spinal Dysraphism; colorectal cancer; Breast Neoplasms|; Cleft Lip|Cleft Palate Methylation GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;TAS|GO:0034214;protein hexamerization;IDA|GO:0051291;protein heterooligomerization;IDA GO:0005829;cytosol;TAS|GO:0048269;methionine adenosyltransferase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAT2A https://hpo.jax.org/app/browse/search?q=MAT2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601468 http://www.informatics.jax.org/searchtool/Search.do?query=MAT2A&submit=Quick%0D%12371ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT2A rs2289972 0.28754 0.3007 0.2883 1 0 0 intronic intronic intronic MAT2A MAT2A ENSG00000168906 Na Na Na Na Na Na Het;C>T 884;28|37 Ref Hom;C>T 1569;0|56 N N - 2 85769711 85769711 C G snp synonymous SNV C792G R264R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MAT2A Mat2a ENSG00000168906 methionine adenosyltransferase 2A chr2:85766288-85772403 The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] Type 2 Diabetes| edema | rosiglitazone; Spinal Dysraphism; colorectal cancer; Breast Neoplasms|; Cleft Lip|Cleft Palate Methylation GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;TAS|GO:0034214;protein hexamerization;IDA|GO:0051291;protein heterooligomerization;IDA GO:0005829;cytosol;TAS|GO:0048269;methionine adenosyltransferase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAT2A https://hpo.jax.org/app/browse/search?q=MAT2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601468 http://www.informatics.jax.org/searchtool/Search.do?query=MAT2A&submit=Quick%0D%12371ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT2A rs1078004 0.492812 0.5331 0.4529 1 0 0 exonic exonic exonic MAT2A MAT2A ENSG00000168906 synonymous SNV synonymous SNV unknown MAT2A:NM_005911:exon7:c.C792G:p.R264R, MAT2A:uc002spr.3:exon7:c.C792G:p.R264R,MAT2A:uc010fgl.2:exon7:c.C603G:p.R201R,MAT2A:uc010ysr.2:exon7:c.C792G:p.R264R, UNKNOWN Het;C>G 572;45|30 Het;C>G 924;48|39 Hom;C>G 2969;0|109 N N - 2 85769975 85769975 A G snp intronic MAT2A Mat2a ENSG00000168906 methionine adenosyltransferase 2A chr2:85766288-85772403 The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] Type 2 Diabetes| edema | rosiglitazone; Spinal Dysraphism; colorectal cancer; Breast Neoplasms|; Cleft Lip|Cleft Palate Methylation GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0032259;methylation;TAS|GO:0034214;protein hexamerization;IDA|GO:0051291;protein heterooligomerization;IDA GO:0005829;cytosol;TAS|GO:0048269;methionine adenosyltransferase complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAT2A https://hpo.jax.org/app/browse/search?q=MAT2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601468 http://www.informatics.jax.org/searchtool/Search.do?query=MAT2A&submit=Quick%0D%12371ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT2A rs2043675 0.28734 0.3046 0.2690 1 0 0 intronic intronic intronic MAT2A MAT2A ENSG00000168906 Na Na Na Na Na Na Het;A>G 1113;47|45 Ref Hom;A>G 2879;0|96 N N - 2 85772548 85772548 C T snp UTR3 *4509G>A GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs7605975 0.49361 0 0 1 0 0 UTR3 UTR3 UTR3 GGCX(NM_001142269:c.*4509G>A,NM_000821:c.*4509G>A) GGCX(uc010yss.2:c.*4509G>A,uc002sps.3:c.*4509G>A,uc010yst.2:c.*4509G>A) ENSG00000115486(ENST00000233838:c.*4509G>A) Na Na Na Na Na Na Het;C>T 357;17|15 Het;C>T 261;10|11 Hom;C>T 1225;0|41 N N - 2 85773061 85773061 A G snp UTR3 *3996T>C GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs12473819 0.530152 0 0 1 0 0 UTR3 UTR3 UTR3 GGCX(NM_001142269:c.*3996T>C,NM_000821:c.*3996T>C) GGCX(uc010yss.2:c.*3996T>C,uc002sps.3:c.*3996T>C,uc010yst.2:c.*3996T>C) ENSG00000115486(ENST00000233838:c.*3996T>C) Na Na Na Na Na Na Het;A>G 645;45|31 Het;A>G 679;33|31 Hom;A>G 2161;0|77 N N - 2 85774676 85774676 G A snp UTR3 *2381C>T GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs6547621 0.49361 0 0 1 0 0 UTR3 UTR3 UTR3 GGCX(NM_001142269:c.*2381C>T,NM_000821:c.*2381C>T) GGCX(uc010yss.2:c.*2381C>T,uc002sps.3:c.*2381C>T,uc010yst.2:c.*2381C>T) ENSG00000115486(ENST00000233838:c.*2381C>T) Na Na Na Na Na Na Het;G>A 331;23|19 Het;G>A 197;17|10 Hom;G>A 1121;0|42 N N - 2 85774828 85774830 CAG C indel UTR3 *2229_*2227delinsG GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs10543863 0 0 0 1 0 0 UTR3 UTR3 UTR3 GGCX(NM_001142269:c.*2229_*2227delinsG,NM_000821:c.*2229_*2227delinsG) GGCX(uc010yss.2:c.*2229_*2227delinsG,uc002sps.3:c.*2229_*2227delinsG,uc010yst.2:c.*2229_*2227delinsG) ENSG00000115486(ENST00000233838:c.*2229_*2227delinsG) Na Na Na Na Na Na Het;-AG 113;6|4 Ref Hom;-AG 188;0|5 N N - 2 85777270 85777270 G A snp intronic GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs2028898 0.286142 0.3029 0.2696 1 0 0 intronic intronic intronic GGCX GGCX ENSG00000115486 Na Na Na Na Na Na Het;G>A 143;19|8 Ref Hom;G>A 572;0|22 N N - 2 85780131 85780131 G A snp synonymous SNV C1218T R406R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs2592551 0.285942 0.3026 0.2661 1 0 0 exonic exonic exonic GGCX GGCX ENSG00000115486 synonymous SNV synonymous SNV unknown GGCX:NM_000821:exon9:c.C1218T:p.R406R,GGCX:NM_001142269:exon8:c.C1047T:p.R349R, GGCX:uc010yss.2:exon6:c.C735T:p.R245R,GGCX:uc002sps.3:exon9:c.C1218T:p.R406R,GGCX:uc010yst.2:exon8:c.C1047T:p.R349R, UNKNOWN Het;G>A 3046;122|143 Ref Hom;G>A 6067;0|230 N N - 2 85780536 85780536 C T snp nonsynonymous SNV G491A R164Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs699664 0.377796 0.4192 0.3198 0.15 2 13 exonic exonic exonic GGCX GGCX ENSG00000115486 nonsynonymous SNV nonsynonymous SNV unknown GGCX:NM_000821:exon8:c.G974A:p.R325Q,GGCX:NM_001142269:exon7:c.G803A:p.R268Q, GGCX:uc010yss.2:exon5:c.G491A:p.R164Q,GGCX:uc002sps.3:exon8:c.G974A:p.R325Q,GGCX:uc010yst.2:exon7:c.G803A:p.R268Q, UNKNOWN Het;C>T 1074;38|47 Ref Hom;C>T 2875;6|109 N N - 2 85783128 85783128 T G snp intronic GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs6738645 0.492612 0 0 1 0 0 intronic intronic intronic GGCX GGCX ENSG00000115486 Na Na Na Na Na Na Het;T>G 177;4|6 Ref Hom;T>G 136;0|4 N N - 2 85788175 85788175 T A snp intronic GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs7568458 0.486821 0 0 1 0 0 intronic intronic intronic GGCX GGCX ENSG00000115486 Na Na Na Na Na Na Het;T>A 348;12|14 Het;T>A 246;12|9 Hom;T>A 587;0|19 N N - 2 85788270 85788270 C A snp intronic GGCX Ggcx ENSG00000115486 gamma-glutamyl carboxylase chr2:85771846-85788670 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Venous Thrombosis; Apoplexy|Atherosclerosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; warfarin sensitivity; bone density; warfarin therapy, response to; null; acenocoumarol and phenprocoumon; Prostatic Neoplasms; Thrombosis; protein C protein S; warfarin response Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. Gamma-carboxylation of protein precursors GO:0006464;cellular protein modification process;TAS|GO:0007596;blood coagulation;TAS|GO:0017187;peptidyl-glutamic acid carboxylation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008488;gamma-glutamyl carboxylase activity;TAS|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGCX https://www.uniprot.org/uniprot/P38435 https://hpo.jax.org/app/browse/search?q=GGCX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137167 http://www.informatics.jax.org/searchtool/Search.do?query=GGCX&submit=Quick%0D%4612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCX rs10172544 0.404952 0 0 1 0 0 intronic intronic intronic GGCX GGCX ENSG00000115486 Na Na Na Na Na Na Het;C>A 93;5|4 Ref Hom;C>A 98;0|4 N N - 2 85806068 85806068 T C snp intronic VAMP8 Vamp8 ENSG00000118640 vesicle associated membrane protein 8 chr2:85788685-85809154 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. Clathrin-mediated endocytosis GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/VAMP8 https://www.uniprot.org/uniprot/Q9BV40 https://www.ncbi.nlm.nih.gov/omim/?term=603177 http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8 rs3731827 0.45008 0 0 1 0 0 intronic intronic intronic VAMP8 VAMP8 ENSG00000118640 Na Na Na Na Na Na Het;T>C 249;13|10 Het;T>C 285;15|14 Hom;T>C 598;0|22 N N - 2 85806266 85806266 C T snp synonymous SNV C138T N46N polar,hydrophilic,neutral polar,hydrophilic,neutral VAMP8 Vamp8 ENSG00000118640 vesicle associated membrane protein 8 chr2:85788685-85809154 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. Clathrin-mediated endocytosis GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/VAMP8 https://www.uniprot.org/uniprot/Q9BV40 https://www.ncbi.nlm.nih.gov/omim/?term=603177 http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8 rs3731828 0.283347 0.3005 0.2990 1 0 0 exonic exonic exonic VAMP8 VAMP8 ENSG00000118640 synonymous SNV synonymous SNV unknown VAMP8:NM_003761:exon2:c.C138T:p.N46N, VAMP8:uc002spt.4:exon2:c.C138T:p.N46N, UNKNOWN Het;C>T 820;37|41 Ref Hom;C>T 1557;0|60 N N - 2 85808573 85808573 T C snp intronic VAMP8 Vamp8 ENSG00000118640 vesicle associated membrane protein 8 chr2:85788685-85809154 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. Clathrin-mediated endocytosis GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/VAMP8 https://www.uniprot.org/uniprot/Q9BV40 https://www.ncbi.nlm.nih.gov/omim/?term=603177 http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8 rs1972297 0.417133 0 0 1 0 0 intronic intronic intronic VAMP8 VAMP8 ENSG00000118640 Na Na Na Na Na Na Het;T>C 270;4|8 Het;T>C 230;7|9 Hom;T>C 318;0|9 N N - 2 85808737 85808737 A G snp synonymous SNV A201G R67R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) VAMP8 Vamp8 ENSG00000118640 vesicle associated membrane protein 8 chr2:85788685-85809154 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. Clathrin-mediated endocytosis GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/VAMP8 https://www.uniprot.org/uniprot/Q9BV40 https://www.ncbi.nlm.nih.gov/omim/?term=603177 http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8 rs1009 0.439497 0.4596 0.4126 1 0 0 exonic exonic exonic VAMP8 VAMP8 ENSG00000118640 synonymous SNV synonymous SNV unknown VAMP8:NM_003761:exon3:c.A201G:p.R67R, VAMP8:uc002spt.4:exon3:c.A201G:p.R67R, UNKNOWN Het;A>G 1360;86|61 Het;A>G 1219;50|53 Hom;A>G 2816;0|105 N N - 2 85808871 85808871 C T snp UTR3 *32C>T VAMP8 Vamp8 ENSG00000118640 vesicle associated membrane protein 8 chr2:85788685-85809154 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] Coronary Disease|Coronary heart disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; glaucoma, primary open-angle; Hypertension/complications*; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Acquired Immunodeficiency Syndrome|Disease Progression Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. Clathrin-mediated endocytosis GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006906;vesicle fusion;IBA|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016240;autophagosome docking;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IMP|GO:0061024;membrane organization;TAS|GO:0065009;regulation of molecular function;IEA|GO:0070254;mucus secretion;IMP|GO:0097352;autophagosome maturation;IMP|GO:1903076;regulation of protein localization to plasma membrane;IDA|GO:1903531;negative regulation of secretion by cell;IDA|GO:1903595;positive regulation of histamine secretion by mast cell;IMP GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030667;secretory granule membrane;TAS|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031201;SNARE complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IDA|GO:0031982;vesicle;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0098594;mucin granule;IDA GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019869;chloride channel inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/VAMP8 https://www.uniprot.org/uniprot/Q9BV40 https://www.ncbi.nlm.nih.gov/omim/?term=603177 http://www.informatics.jax.org/searchtool/Search.do?query=VAMP8&submit=Quick%0D%4997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAMP8 rs1058588 0.416733 0.4337 0.4057 1 0 0 UTR3 UTR3 UTR3 VAMP8(NM_003761:c.*32C>T) VAMP8(uc002spt.4:c.*32C>T) ENSG00000118640(ENST00000432071:c.*32C>T,ENST00000263864:c.*32C>T,ENST00000409760:c.*168C>T) Na Na Na Na Na Na Het;C>T 982;45|43 Het;C>T 616;40|29 Hom;C>T 1176;0|44 N N - 2 85823167 85823168 TG T indel intronic RNF181 Rnf181 ENSG00000168894 ring finger protein 181 chr2:85822848-85824736 RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008] E3 ubiquitin ligases ubiquitinate target proteins GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0051865;protein autoubiquitination;IDA GO:0005737;cytoplasm;TAS GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/RNF181 https://www.ncbi.nlm.nih.gov/omim/?term=612490 http://www.informatics.jax.org/searchtool/Search.do?query=RNF181&submit=Quick%0D%12367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF181 rs35880310 0 0 0 1 0 0 intronic intronic intronic RNF181 RNF181 ENSG00000168894 Na Na Na Na Na Na Het;-G 114;2|5 Ref Hom;-G 101;0|4 N N - 2 85824084 85824084 G C snp unknown RNF181 Rnf181 ENSG00000168894 ring finger protein 181 chr2:85822848-85824736 RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008] E3 ubiquitin ligases ubiquitinate target proteins GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0051865;protein autoubiquitination;IDA GO:0005737;cytoplasm;TAS GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/RNF181 https://www.ncbi.nlm.nih.gov/omim/?term=612490 http://www.informatics.jax.org/searchtool/Search.do?query=RNF181&submit=Quick%0D%12367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF181 rs2232748 0.477636 0.4802 0.3671 1 0 0 intronic intronic exonic RNF181 RNF181 ENSG00000168894 Na Na unknown Na Na UNKNOWN Het;G>C 1015;27|27 Het;G>C 758;18|28 Hom;G>C 1927;0|53 N N - 2 85826132 85826132 G A snp UTR3 *67C>T TMEM150A Tmem150a ENSG00000168890 transmembrane protein 150A chr2:85825671-85830319 GO:0009056;catabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IDA GO:0005764;lysosome;IBA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM150A https://www.ncbi.nlm.nih.gov/omim/?term=616757 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM150A&submit=Quick%0D%12366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM150A rs1044158 0.460463 0 0 1 0 0 UTR3 UTR3 UTR3 TMEM150A(NM_001031738:c.*67C>T) TMEM150A(uc002spx.2:c.*67C>T,uc002spy.2:c.*67C>T,uc002spz.2:c.*67C>T) ENSG00000168890(ENST00000306353:c.*67C>T,ENST00000334462:c.*67C>T,ENST00000409668:c.*67C>T) Na Na Na Na Na Na Het;G>A 935;60|36 Het;G>A 1162;39|46 Hom;G>A 2040;0|74 N N - 2 85828014 85828014 T G snp intronic TMEM150A Tmem150a ENSG00000168890 transmembrane protein 150A chr2:85825671-85830319 GO:0009056;catabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IDA GO:0005764;lysosome;IBA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM150A https://www.ncbi.nlm.nih.gov/omim/?term=616757 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM150A&submit=Quick%0D%12366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM150A rs6733550 0.478235 0 0 1 0 0 intronic intronic intronic TMEM150A TMEM150A ENSG00000168890 Na Na Na Na Na Na Het;T>G 215;6|7 Het;T>G 152;3|5 Hom;T>G 135;0|4 N N - 2 85876224 85876225 CT C indel UTR3 *293_*294delinsC USP39 Usp39 ENSG00000168883 ubiquitin specific peptidase 39 chr2:85829979-85876403 Tobacco Use Disorder mRNA Splicing - Major Pathway GO:0000245;spliceosomal complex assembly;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0007049;cell cycle;IEA|GO:0008380;RNA splicing;TAS|GO:0016579;protein deubiquitination;IEA|GO:0051301;cell division;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA GO:0008270;zinc ion binding;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP39 https://www.ncbi.nlm.nih.gov/omim/?term=611594 http://www.informatics.jax.org/searchtool/Search.do?query=USP39&submit=Quick%0D%12363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP39 rs3832098 0.489417 0 0 1 0 0 UTR3 UTR3 UTR3 USP39(NM_001256727:c.*293_*294delinsC,NM_001256728:c.*293_*294delinsC,NM_006590:c.*293_*294delinsC,NM_001256726:c.*388_*389delinsC,NM_001256725:c.*130_*131delinsC) USP39(uc002sqb.4:c.*293_*294delinsC,uc010ysu.3:c.*293_*294delinsC,uc010ysv.3:c.*293_*294delinsC,uc002sqe.4:c.*130_*131delinsC,uc002sqg.4:c.*293_*294delinsC,uc010fgo.4:c.*388_*389delinsC) ENSG00000168883(ENST00000450066:c.*293_*294delinsC,ENST00000409025:c.*130_*131delinsC,ENST00000409470:c.*130_*131delinsC,ENST00000323701:c.*293_*294delinsC,ENST00000409766:c.*388_*389delinsC) Na Na Na Na Na Na Het;-T 2848;92|93 Het;-T 2584;87|84 Hom;-T 5841;1|158 N N - 2 85886013 85886013 T C snp UTR3 *812A>G SFTPB Sftpb ENSG00000168878 surfactant protein B chr2:85884437-85895864 This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010] blood transfusion; lung cancer; patent ductus arteriosus; COPD | Chronic obstructive Pulmonary Disease; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn; asthma respiratory syncytial virus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease/COPD; Lung Diseases, Interstitial|Scleroderma, Systemic; bronchopulmonary dysplasia; pulmonary function; respiratory distress syndrome, neonatal; sepsis; pneumonia; acute respiratory distress syndrome; Pneumonia|Respiratory Distress Syndrome, Newborn|Sepsis; pulmonary fibrosis; respiratory distress syndrome; bronchopulmonary dysplasia; respiratory distress syndrome, neonatal; Pulmonary Disease, Chronic Obstructive; respiratory syncytial virus bronchiolitis; Respiratory Distress Syndrome, Adult; Emphysema; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; ARDS; acute respiratory distress syndrome; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive Inactivation of this gene results in respiratory failure. Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007585;respiratory gaseous exchange;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;TAS|GO:0005764;lysosome;IEA|GO:0005771;multivesicular body;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS|GO:0097208;alveolar lamellar body;IBA|GO:0097486;multivesicular body lumen;TAS GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SFTPB https://hpo.jax.org/app/browse/search?q=SFTPB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=178640 http://www.informatics.jax.org/searchtool/Search.do?query=SFTPB&submit=Quick%0D%12362ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPB rs7316 0.176917 0 0 1 0 0 UTR3 UTR3 UTR3 SFTPB(NM_000542:c.*812A>G) SFTPB(uc002sqj.3:c.*812A>G) ENSG00000168878(ENST00000519937:c.*812A>G,ENST00000342375:c.*812A>G,ENST00000393822:c.*812A>G) Na Na Na Na Na Na Het;T>C 476;35|21 Ref Hom;T>C 1020;0|35 N N - 2 85890753 85890753 A G snp intronic SFTPB Sftpb ENSG00000168878 surfactant protein B chr2:85884437-85895864 This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010] blood transfusion; lung cancer; patent ductus arteriosus; COPD | Chronic obstructive Pulmonary Disease; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn; asthma respiratory syncytial virus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease/COPD; Lung Diseases, Interstitial|Scleroderma, Systemic; bronchopulmonary dysplasia; pulmonary function; respiratory distress syndrome, neonatal; sepsis; pneumonia; acute respiratory distress syndrome; Pneumonia|Respiratory Distress Syndrome, Newborn|Sepsis; pulmonary fibrosis; respiratory distress syndrome; bronchopulmonary dysplasia; respiratory distress syndrome, neonatal; Pulmonary Disease, Chronic Obstructive; respiratory syncytial virus bronchiolitis; Respiratory Distress Syndrome, Adult; Emphysema; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; ARDS; acute respiratory distress syndrome; Anoxia|Hypercapnia|Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive Inactivation of this gene results in respiratory failure. Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007585;respiratory gaseous exchange;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;TAS|GO:0005764;lysosome;IEA|GO:0005771;multivesicular body;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS|GO:0097208;alveolar lamellar body;IBA|GO:0097486;multivesicular body lumen;TAS GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SFTPB https://hpo.jax.org/app/browse/search?q=SFTPB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=178640 http://www.informatics.jax.org/searchtool/Search.do?query=SFTPB&submit=Quick%0D%12362ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPB rs762548 0.177316 0.1315 0.1208 1 0 0 intronic intronic intronic SFTPB SFTPB ENSG00000168878 Na Na Na Na Na Na Het;A>G 503;27|21 Ref Hom;A>G 1029;2|40 N N - 2 86003971 86003971 G A snp intronic ATOH8 Atoh8 ENSG00000168874 atonal bHLH transcription factor 8 chr2:85978467-86015189 Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-in allele appear to be developmentally arrested at or slightly after gastrulation. GO:0001704;formation of primary germ layer;IEA|GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0030154;cell differentiation;IEA|GO:0035148;tube formation;IMP|GO:0045603;positive regulation of endothelial cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051450;myoblast proliferation;IEA|GO:0060395;SMAD protein signal transduction;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0008134;transcription factor binding;IEA|GO:0033613;activating transcription factor binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATOH8 http://www.informatics.jax.org/searchtool/Search.do?query=ATOH8&submit=Quick%0D%12359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATOH8 rs35976024 0.301118 0 0 1 0 0 intronic intronic intronic ATOH8 ATOH8 ENSG00000168874 Na Na Na Na Na Na Het;G>A 177;8|8 Ref Hom;G>A 412;0|15 N N - 2 86010678 86010678 T C snp intronic ATOH8 Atoh8 ENSG00000168874 atonal bHLH transcription factor 8 chr2:85978467-86015189 Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-in allele appear to be developmentally arrested at or slightly after gastrulation. GO:0001704;formation of primary germ layer;IEA|GO:0001937;negative regulation of endothelial cell proliferation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0030154;cell differentiation;IEA|GO:0035148;tube formation;IMP|GO:0045603;positive regulation of endothelial cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051450;myoblast proliferation;IEA|GO:0060395;SMAD protein signal transduction;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0008134;transcription factor binding;IEA|GO:0033613;activating transcription factor binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATOH8 http://www.informatics.jax.org/searchtool/Search.do?query=ATOH8&submit=Quick%0D%12359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATOH8 rs7609387 0.529752 0 1 1 0 0 intronic intronic intronic ATOH8 ATOH8 ENSG00000168874 Na Na Na Na Na Na Het;T>C 172;15|8 Het;T>C 242;21|12 Hom;T>C 914;0|30 N N - 2 86051235 86051235 C T snp ncRNA_exonic LOC284950 rs1518987 0.4377 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC284950 LOC284950 ENSG00000229498 Na Na Na Na Na Na Het;C>T 1245;62|57 Het;C>T 890;57|44 Hom;C>T 2321;0|84 N N - 2 86051597 86051597 T C snp ncRNA_exonic LOC284950 rs2049015 0.680312 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC284950 LOC284950 ENSG00000229498 Na Na Na Na Na Na Het;T>C 1259;59|52 Het;T>C 1052;36|43 Hom;T>C 3095;0|103 N N - 2 8702791 8702791 T C snp ncRNA_exonic LOC101929567 rs4669289 0.376198 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929567 LINC00299(dist=234242),ID2(dist=119322) ENSG00000236008 Na Na Na Na Na Na Het;T>C 860;46|35 Ref Hom;T>C 1702;0|64 N N - 2 8703350 8703350 A AT indel ncRNA_exonic LOC101929567 rs112620912 0.274361 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929567 LINC00299(dist=234801),ID2(dist=118763) ENSG00000236008 Na Na Na Na Na Na Het;+T 93;13|8 Ref Hom;+T 484;0|22 N N - 2 8704293 8704293 T A snp ncRNA_exonic LOC101929567 rs6759554 0.260184 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929567 LINC00299(dist=235744),ID2(dist=117820) ENSG00000236008 Na Na Na Na Na Na Het;T>A 2174;115|99 Ref Hom;T>A 4439;2|155 N N - 2 8717211 8717211 G A snp ncRNA_exonic LOC101929567 rs16866727 0.312101 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929567 LINC00299(dist=248662),ID2(dist=104902) ENSG00000236008 Na Na Na Na Na Na Het;G>A 4490;219|214 Ref Hom;G>A 9735;0|368 N N - 2 8717368 8717368 C CT indel ncRNA_intronic LOC101929567 rs138271376 0.312899 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929567 LINC00299(dist=248819),ID2(dist=104745) ENSG00000236008 Na Na Na Na Na Na Het;+T 236;24|14 Ref Hom;+T 306;0|13 N N - 2 8718552 8718552 G A snp ncRNA_intronic LOC101929567 rs11888072 0.346446 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929567 LINC00299(dist=250003),ID2(dist=103561) ENSG00000236008 Na Na Na Na Na Na Het;G>A 95;4|4 Ref Hom;G>A 254;0|8 N N - 2 8718606 8718606 G A snp ncRNA_intronic LOC101929567 rs10929537 0.313099 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929567 LINC00299(dist=250057),ID2(dist=103507) ENSG00000236008 Na Na Na Na Na Na Het;G>A 323;17|14 Ref Hom;G>A 824;0|23 N N - 2 8718698 8718698 A G snp ncRNA_splicing LINC01814 rs10929538 0.313898 0 0 1 0 0 ncRNA_splicing intergenic ncRNA_splicing LOC101929567(NR_110257:exon4:c.355+2T>C) LINC00299(dist=250149),ID2(dist=103415) ENSG00000236008(ENST00000454224:exon4:c.355+2T>C) Na Na Na Na Na Na Het;A>G 969;55|45 Ref Hom;A>G 2496;4|93 N N - 2 8718961 8718961 G A snp ncRNA_intronic LOC101929567 rs11679703 0.295727 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929567 LINC00299(dist=250412),ID2(dist=103152) ENSG00000236008 Na Na Na Na Na Na Het;G>A 381;5|16 Ref Hom;G>A 737;0|24 N N - 2 8720038 8720038 C T snp ncRNA_intronic LOC101929567 rs67269656 0.304712 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929567 LINC00299(dist=251489),ID2(dist=102075) ENSG00000236008 Na Na Na Na Na Na Het;C>T 406;19|18 Ref Hom;C>T 1005;0|35 N N - 2 8723673 8723673 G A snp ncRNA_intronic LOC101929567 rs4669294 0.315296 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929567 LINC00299(dist=255124),ID2(dist=98440) ENSG00000236008 Na Na Na Na Na Na Het;G>A 165;7|7 Ref Hom;G>A 122;0|4 N N - 2 8723959 8723959 A T snp upstream LOC101929567 rs59996641 0.290136 0 0 1 0 0 upstream intergenic upstream LOC101929567 LINC00299(dist=255410),ID2(dist=98154) ENSG00000236008 Na Na Na Na Na Na Het;A>T 307;12|17 Ref Hom;A>T 722;0|28 N N - 2 87623933 87623933 C G snp intronic RMND5A Rmnd5a ENSG00000153561 required for meiotic nuclear division 5 homolog A chr2:86947296-87005164 GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0034657;GID complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RMND5A https://www.uniprot.org/uniprot/Q9H871 http://www.informatics.jax.org/searchtool/Search.do?query=RMND5A&submit=Quick%0D%9674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RMND5A rs7425589 0 0 0 1 0 0 intergenic intronic intergenic MIR4771-2(dist=201951),LINC00152(dist=131041) RMND5A ENSG00000224881(dist=16043),ENSG00000222041(dist=130954) Na Na Na Na Na Na Het;C>G 52;0|3 Het;C>G 202;4|7 Hom;C>G 240;0|9 N N - 2 87866770 87866770 T C snp ncRNA_intronic CYTOR rs4971986 0.779153 0 0 1 0 0 intergenic intronic ncRNA_intronic LINC00152(dist=45740),MIR4435-1(dist=62504) RMND5A ENSG00000222041 Na Na Na Na Na Na Het;T>C 224;5|9 Ref Hom;T>C 226;0|7 N N - 2 8811354 8811354 C A snp ncRNA_exonic ID2-AS1 rs1054765 0.570088 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic ID2-AS1 LINC00299(dist=342805),ID2(dist=10759) ENSG00000235092 Na Na Na Na Na Na Het;C>A 2069;94|88 Het;C>A 1586;97|76 Hom;C>A 4654;0|166 N N - 2 90485847 90485847 G C snp intergenic MIR4436A rs368622450 0 0 0 1 0 0 intergenic intergenic intergenic MIR4436A(dist=1373879),LOC654342(dist=1338862) abParts(dist=14671),DQ576041(dist=7961) ENSG00000270999(dist=27176),ENSG00000237474(dist=26648) Na Na Na Na Na Na Het;G>C 270;6|8 Ref Hom;G>C 114;0|5 N N - 2 91707647 91707647 T G snp intergenic NONE rs1687568 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC654342(dist=117062) IGKV3-11(dist=1169534),DQ576041(dist=7687) ENSG00000203344(dist=13702),ENSG00000214164(dist=15402) Na Na Na Na Na Na Het;T>G 364;3|14 Het;T>G 108;10|4 Hom;T>G 433;0|16 N N - 2 91759792 91759792 G A snp intergenic NONE rs4927528 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC654342(dist=64917) DQ571479(dist=36200),LOC654342(dist=45396) ENSG00000235388(dist=18999),ENSG00000230964(dist=6745) Na Na Na Na Na Na Het;G>A 76;4|3 Het;G>A 65;2|3 Hom;G>A 127;0|5 N N - 2 91761690 91761690 T C snp intergenic NONE rs2558021 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LOC654342(dist=63019) DQ571479(dist=38098),LOC654342(dist=43498) ENSG00000235388(dist=20897),ENSG00000230964(dist=4847) Na Na Na Na Na Na Het;T>C 85;1|4 Ref Hom;T>C 71;0|4 N N - 2 91766779 91766779 A T snp downstream AC233266.1 rs2433881 0 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),LOC654342(dist=57930) DQ571479(dist=43187),LOC654342(dist=38409) ENSG00000230964 Na Na Na Na Na Na Het;A>T 71;3|3 Het;A>T 154;1|6 Hom;A>T 96;0|4 N N - 2 91778140 91778140 C T snp ncRNA_intronic ENSG00000233991 rs2557999 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=46569) DQ571479(dist=54548),LOC654342(dist=27048) ENSG00000233991 Na Na Na Na Na Na Het;C>T 53;15|3 Het;C>T 134;2|4 Hom;C>T 63;0|2 N N - 2 91778168 91778168 G C snp ncRNA_intronic ENSG00000233991 rs2454365 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=46541) DQ571479(dist=54576),LOC654342(dist=27020) ENSG00000233991 Na Na Na Na Na Na Het;G>C 323;2|12 Het;G>C 93;2|4 Hom;G>C 66;0|3 N N - 2 91778370 91778370 G A snp ncRNA_intronic ENSG00000233991 rs2443342 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=46339) DQ571479(dist=54778),LOC654342(dist=26818) ENSG00000233991 Na Na Na Na Na Na Het;G>A 256;2|8 Het;G>A 209;4|9 Hom;G>A 71;0|4 N N - 2 91780369 91780369 A AT indel ncRNA_intronic ENSG00000233991 rs59422947 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=44340) DQ571479(dist=56777),LOC654342(dist=24819) ENSG00000233991 Na Na Na Na Na Na Het;+T 36;2|3 Het;+T 91;2|5 Hom;+T 143;0|6 N N - 2 91781497 91781497 T G snp ncRNA_intronic ENSG00000233991 rs2580504 0.872404 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=43212) DQ571479(dist=57905),LOC654342(dist=23691) ENSG00000233991 Na Na Na Na Na Na Het;T>G 37;2|2 Ref Hom;T>G 154;0|6 N N - 2 91808725 91808725 G C snp ncRNA_intronic LOC654342 rs4005003 0.68111 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=15984) LOC654342 ENSG00000143429,ENSG00000233991 Na Na Na Na Na Na Het;G>C 124;2|5 Ref Hom;G>C 189;1|9 N N - 2 91816579 91816579 G T snp ncRNA_intronic LOC654342 rs887143 0 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic NONE(dist=NONE),LOC654342(dist=8130) LOC654342 ENSG00000143429 Na Na Na Na Na Na Het;G>T 45;2|3 Ref Hom;G>T 98;0|4 N N - 2 91910200 91910200 A G snp upstream AC027612.4 rs9659969 0 0 0 1 0 0 intergenic intergenic upstream LOC654342(dist=62225),GGT8P(dist=53168) LOC654342(dist=62225),Mir_544(dist=41745) ENSG00000271627 Na Na Na Na Na Na Het;A>G 156;6|7 Ref Hom;A>G 94;0|4 N N - 2 947090 947090 G C snp intronic SNTG2 Sntg2 ENSG00000281486 syntrophin gamma 2 chr2:946554-1371385 This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008] Eosinophils; Hip GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNTG2 https://www.ncbi.nlm.nih.gov/omim/?term=608715 http://www.informatics.jax.org/searchtool/Search.do?query=SNTG2&submit=Quick%0D%22307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTG2 rs6757423 0.347045 0 0 1 0 0 intronic intronic intronic SNTG2 SNTG2 ENSG00000172554 Na Na Na Na Na Na Het;G>C 1120;46|46 Ref Hom;G>C 2584;0|96 N N - 2 96611146 96611146 A G snp intronic ANKRD36C ENSG00000174501 ankyrin repeat domain 36C chr2:96514587-96657541 GO:0065009;regulation of molecular function;IEA GO:0008200;ion channel inhibitor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD36C http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD36C&submit=Quick%0D%13535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD36C rs2315147 0 0 0 1 0 0 intergenic intergenic intronic LINC00342(dist=118417),FAHD2CP(dist=65153) NONE(dist=NONE),NONE(dist=NONE) ENSG00000174501 Na Na Na Na Na Na Het;A>G 509;4|15 Ref Hom;A>G 93;0|3 N N - 2 97267260 97267260 G C snp UTR3 *57C>G KANSL3 Kansl3 ENSG00000114982 KAT8 regulatory NSL complex subunit 3 chr2:97258907-97308524 HATs acetylate histones GO:0016569;covalent chromatin modification;IEA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/KANSL3 https://www.uniprot.org/uniprot/Q9P2N6 http://www.informatics.jax.org/searchtool/Search.do?query=KANSL3&submit=Quick%0D%4525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL3 rs6759099 0.366813 0 0 1 0 0 intronic UTR3 intronic KANSL3 KANSL3(uc002swo.3:c.*57C>G) ENSG00000114982 Na Na Na Na Na Na Het;G>C 317;10|10 Het;G>C 107;5|4 Hom;G>C 485;0|13 N N - 2 97267293 97267293 T C snp UTR3 *24A>G KANSL3 Kansl3 ENSG00000114982 KAT8 regulatory NSL complex subunit 3 chr2:97258907-97308524 HATs acetylate histones GO:0016569;covalent chromatin modification;IEA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/KANSL3 https://www.uniprot.org/uniprot/Q9P2N6 http://www.informatics.jax.org/searchtool/Search.do?query=KANSL3&submit=Quick%0D%4525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL3 rs6749159 0.366813 0 0.4641 1 0 0 intronic UTR3 intronic KANSL3 KANSL3(uc002swo.3:c.*24A>G) ENSG00000114982 Na Na Na Na Na Na Het;T>C 438;20|17 Het;T>C 514;8|19 Hom;T>C 1075;0|32 N N - 2 97267644 97267644 G A snp intronic KANSL3 Kansl3 ENSG00000114982 KAT8 regulatory NSL complex subunit 3 chr2:97258907-97308524 HATs acetylate histones GO:0016569;covalent chromatin modification;IEA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/KANSL3 https://www.uniprot.org/uniprot/Q9P2N6 http://www.informatics.jax.org/searchtool/Search.do?query=KANSL3&submit=Quick%0D%4525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL3 rs62154845 0.366613 0 0 1 0 0 intronic intronic intronic KANSL3 KANSL3 ENSG00000114982 Na Na Na Na Na Na Het;G>A 39;11|3 Ref Hom;G>A 245;0|8 N N - 2 97304180 97304180 G C snp upstream KANSL3 Kansl3 ENSG00000114982 KAT8 regulatory NSL complex subunit 3 chr2:97258907-97308524 HATs acetylate histones GO:0016569;covalent chromatin modification;IEA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/KANSL3 https://www.uniprot.org/uniprot/Q9P2N6 http://www.informatics.jax.org/searchtool/Search.do?query=KANSL3&submit=Quick%0D%4525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL3 rs7580048 0.367212 0 0 1 0 0 upstream upstream intronic KANSL3 KANSL3 ENSG00000114982 Na Na Na Na Na Na Het;G>C 194;8|9 Het;G>C 83;5|5 Hom;G>C 500;0|17 N N - 2 97313450 97313450 C G snp ncRNA_intronic FER1L5 Fer1l5 ENSG00000249715 fer-1 like family member 5 chr2:97308474-97370624 GO:0007520;myoblast fusion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FER1L5 http://www.informatics.jax.org/searchtool/Search.do?query=FER1L5&submit=Quick%0D%19930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FER1L5 rs749949 0.368211 0 0 1 0 0 intronic intronic ncRNA_intronic FER1L5 FER1L5 ENSG00000249715 Na Na Na Na Na Na Het;C>G 286;22|14 Het;C>G 558;12|23 Hom;C>G 596;0|21 N N - 2 97529360 97529360 T A snp intronic SEMA4C Sema4c ENSG00000168758 semaphorin 4C chr2:97525453-97536494 Mice homozygous for a targeted mutation exhibit exencephaly, neonatal lethality, and abnormal cerebellum morphology. GO:0001843;neural tube closure;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0021535;cell migration in hindbrain;IEA|GO:0021549;cerebellum development;IEA|GO:0030154;cell differentiation;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0042692;muscle cell differentiation;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEMA4C https://www.ncbi.nlm.nih.gov/omim/?term=604462 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4C&submit=Quick%0D%12335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4C rs59271006 0.424121 0 0 1 0 0 intronic intronic intronic SEMA4C SEMA4C ENSG00000168758 Na Na Na Na Na Na Het;T>A 48;9|3 Het;T>A 115;4|5 Hom;T>A 204;0|9 N N - 2 97543936 97543936 T C snp intronic FAM178B Fam178b ENSG00000168754 family with sequence similarity 178 member B chr2:97541620-97684175 Cell Adhesion Molecules; Body Mass Index http://www.genecards.org/index.php?path=/Search/keyword/FAM178B http://www.informatics.jax.org/searchtool/Search.do?query=FAM178B&submit=Quick%0D%12333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM178B rs12473528 0.619209 0 0 1 0 0 intronic intronic intronic FAM178B FAM178B ENSG00000168754 Na Na Na Na Na Na Het;T>C 151;7|6 Ref Hom;T>C 439;0|11 N N - 2 97544089 97544089 G C snp intronic FAM178B Fam178b ENSG00000168754 family with sequence similarity 178 member B chr2:97541620-97684175 Cell Adhesion Molecules; Body Mass Index http://www.genecards.org/index.php?path=/Search/keyword/FAM178B http://www.informatics.jax.org/searchtool/Search.do?query=FAM178B&submit=Quick%0D%12333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM178B rs6750988 0.567093 0 0 1 0 0 intronic intronic intronic FAM178B FAM178B ENSG00000168754 Na Na Na Na Na Na Het;G>C 809;38|32 Het;G>C 489;25|19 Hom;G>C 1077;0|37 N N - 2 97559759 97559759 G A snp synonymous SNV C57T L19L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAM178B Fam178b ENSG00000168754 family with sequence similarity 178 member B chr2:97541620-97684175 Cell Adhesion Molecules; Body Mass Index http://www.genecards.org/index.php?path=/Search/keyword/FAM178B http://www.informatics.jax.org/searchtool/Search.do?query=FAM178B&submit=Quick%0D%12333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM178B rs11677797 0.428514 0.2072 0.3427 1 0 0 exonic exonic exonic FAM178B FAM178B ENSG00000168754 synonymous SNV synonymous SNV unknown FAM178B:NM_001172667:exon2:c.C57T:p.L19L,FAM178B:NM_001122646:exon14:c.C1680T:p.L560L, FAM178B:uc002sxl.4:exon14:c.C1680T:p.L560L,FAM178B:uc002sxi.4:exon2:c.C57T:p.L19L,FAM178B:uc002sxk.4:exon8:c.C729T:p.L243L, UNKNOWN Het;G>A 1237;84|58 Het;G>A 866;71|46 Hom;G>A 2966;0|113 N N - 2 97560913 97560913 C T snp intronic FAM178B Fam178b ENSG00000168754 family with sequence similarity 178 member B chr2:97541620-97684175 Cell Adhesion Molecules; Body Mass Index http://www.genecards.org/index.php?path=/Search/keyword/FAM178B http://www.informatics.jax.org/searchtool/Search.do?query=FAM178B&submit=Quick%0D%12333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM178B rs4907206 0.417332 0 0 1 0 0 intronic intronic intronic FAM178B FAM178B ENSG00000168754 Na Na Na Na Na Na Het;C>T 970;23|37 Het;C>T 406;25|20 Hom;C>T 1630;0|57 N N - 2 97833651 97833651 C A snp intronic ANKRD36 ENSG00000135976 ankyrin repeat domain 36 chr2:97779233-97930258 Body Mass Index http://www.genecards.org/index.php?path=/Search/keyword/ANKRD36 https://www.uniprot.org/uniprot/A6QL64 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD36&submit=Quick%0D%7264ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD36 rs72945198 0 0 0 1 0 0 intronic intronic intronic ANKRD36 ANKRD36 ENSG00000135976 Na Na Na Na Na Na Het;C>A 393;3|13 Het;C>A 562;5|17 Hom;C>A 952;1|27 N N - 2 97884763 97884763 T C snp intronic ANKRD36 ENSG00000135976 ankyrin repeat domain 36 chr2:97779233-97930258 Body Mass Index http://www.genecards.org/index.php?path=/Search/keyword/ANKRD36 https://www.uniprot.org/uniprot/A6QL64 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD36&submit=Quick%0D%7264ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD36 rs4328671 0.519768 0 0.4239 1 0 0 intronic intronic intronic ANKRD36 ANKRD36 ENSG00000135976 Na Na Na Na Na Na Het;T>C 146;24|10 Het;T>C 155;17|10 Hom;T>C 553;2|23 N N - 2 9870523 9870523 T G snp intergenic YWHAQ Ywhaq ENSG00000134308 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta chr2:9724101-9771143 This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008] Cholesterol, LDL; breast cancer ; Respiratory Function Tests; Heart Rate Embryos homozygous for a gene trap allele are developmentally delayed and die by E14 with no specific cardiac defects; however, heterozygotes develop larger myocardial infarctions with increased post-infarction cardiac remodeling while cultured cardiomyocytes are sensitized to proapoptotic stimuli. Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex GO:0006605;protein targeting;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0021762;substantia nigra development;IEP|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0044325;ion channel binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0071889;14-3-3 protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YWHAQ https://www.uniprot.org/uniprot/P27348 https://www.ncbi.nlm.nih.gov/omim/?term=609009 http://www.informatics.jax.org/searchtool/Search.do?query=YWHAQ&submit=Quick%0D%6954ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAQ rs885572 0.592851 0 0 1 0 0 intergenic intergenic intergenic YWHAQ(dist=99339),TAF1B(dist=113048) YWHAQ(dist=99417),TAF1B(dist=113048) ENSG00000244260(dist=21981),ENSG00000200034(dist=10249) Na Na Na Na Na Na Het;T>G 458;21|21 Ref Hom;T>G 489;2|20 N N - 2 9870631 9870631 T C snp intergenic YWHAQ Ywhaq ENSG00000134308 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta chr2:9724101-9771143 This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008] Cholesterol, LDL; breast cancer ; Respiratory Function Tests; Heart Rate Embryos homozygous for a gene trap allele are developmentally delayed and die by E14 with no specific cardiac defects; however, heterozygotes develop larger myocardial infarctions with increased post-infarction cardiac remodeling while cultured cardiomyocytes are sensitized to proapoptotic stimuli. Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex GO:0006605;protein targeting;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0021762;substantia nigra development;IEP|GO:0034766;negative regulation of ion transmembrane transport;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0044325;ion channel binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0071889;14-3-3 protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/YWHAQ https://www.uniprot.org/uniprot/P27348 https://www.ncbi.nlm.nih.gov/omim/?term=609009 http://www.informatics.jax.org/searchtool/Search.do?query=YWHAQ&submit=Quick%0D%6954ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAQ rs7592044 0.591853 0 0 1 0 0 intergenic intergenic intergenic YWHAQ(dist=99447),TAF1B(dist=112940) YWHAQ(dist=99525),TAF1B(dist=112940) ENSG00000244260(dist=22089),ENSG00000200034(dist=10141) Na Na Na Na Na Na Het;T>C 648;39|31 Ref Hom;T>C 1359;2|53 N N - 2 98885925 98885925 G A snp UTR3 *2717G>A VWA3B Vwa3b ENSG00000168658 von Willebrand factor A domain containing 3B chr2:98703579-98929762 Heart Rate; Tobacco Use Disorder; Heart Failure Male mice homozygous for a null allele exhibit normal fecundity. GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/VWA3B https://hpo.jax.org/app/browse/search?q=VWA3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614884 http://www.informatics.jax.org/searchtool/Search.do?query=VWA3B&submit=Quick%0D%12317ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VWA3B rs2221416 0.330671 0 0 1 0 0 intronic intronic UTR3 VWA3B VWA3B ENSG00000168658(ENST00000432242:c.*2717G>A) Na Na Na Na Na Na Het;G>A 763;42|33 Ref Hom;G>A 2712;0|103 N N - 2 98887116 98887116 G C snp intronic VWA3B Vwa3b ENSG00000168658 von Willebrand factor A domain containing 3B chr2:98703579-98929762 Heart Rate; Tobacco Use Disorder; Heart Failure Male mice homozygous for a null allele exhibit normal fecundity. GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/VWA3B https://hpo.jax.org/app/browse/search?q=VWA3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614884 http://www.informatics.jax.org/searchtool/Search.do?query=VWA3B&submit=Quick%0D%12317ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VWA3B rs4851955 0.330471 0.4284 0.4194 1 0 0 intronic intronic intronic VWA3B VWA3B ENSG00000168658 Na Na Na Na Na Na Het;G>C 631;27|26 Ref Hom;G>C 1656;0|56 N N - 3 100473505 100473505 C T snp synonymous SNV G2748A P916P hydrophobic,neutral hydrophobic,neutral ABI3BP Abi3bp ENSG00000154175 ABI family member 3 binding protein chr3:100468000-100712359 mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis. GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP https://www.uniprot.org/uniprot/Q7Z7G0 https://www.ncbi.nlm.nih.gov/omim/?term=606279 http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP rs10936352 0.290935 0.3159 0.4401 1 0 0 exonic exonic exonic ABI3BP ABI3BP ENSG00000154175 synonymous SNV synonymous SNV unknown ABI3BP:NM_015429:exon31:c.G2748A:p.P916P, ABI3BP:uc003duj.3:exon22:c.G1488A:p.P496P,ABI3BP:uc011bhd.2:exon41:c.G2610A:p.P870P,ABI3BP:uc003duk.3:exon24:c.G1875A:p.P625P,ABI3BP:uc003dun.3:exon31:c.G2748A:p.P916P,ABI3BP:uc003dul.3:exon33:c.G2238A:p.P746P,ABI3BP:uc003dum.3:exon14:c.G981A:p.P327P, UNKNOWN Het;C>T 1126;124|63 Het;C>T 1108;101|62 Hom;C>T 4018;2|158 N N - 3 100493607 100493607 T C snp intronic ABI3BP Abi3bp ENSG00000154175 ABI family member 3 binding protein chr3:100468000-100712359 mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis. GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP https://www.uniprot.org/uniprot/Q7Z7G0 https://www.ncbi.nlm.nih.gov/omim/?term=606279 http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP rs3736534 0.315895 0 0 1 0 0 intronic intronic intronic ABI3BP ABI3BP ENSG00000154175 Na Na Na Na Na Na Het;T>C 278;4|10 Het;T>C 70;6|4 Hom;T>C 253;0|7 N N - 3 100511428 100511428 G A snp intronic ABI3BP Abi3bp ENSG00000154175 ABI family member 3 binding protein chr3:100468000-100712359 mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis. GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP https://www.uniprot.org/uniprot/Q7Z7G0 https://www.ncbi.nlm.nih.gov/omim/?term=606279 http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP rs989793 0.48103 0 0 1 0 0 intronic intronic intronic ABI3BP ABI3BP ENSG00000154175 Na Na Na Na Na Na Het;G>A 35;3|2 Het;G>A 288;1|9 Hom;G>A 522;0|13 N N - 3 100515197 100515198 AT A indel intronic ABI3BP Abi3bp ENSG00000154175 ABI family member 3 binding protein chr3:100468000-100712359 mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis. GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP https://www.uniprot.org/uniprot/Q7Z7G0 https://www.ncbi.nlm.nih.gov/omim/?term=606279 http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP rs201011497 0.129393 0.1962 0 1 0 0 intronic intronic intronic ABI3BP ABI3BP ENSG00000154175 Na Na Na Na Na Na Het;-T 137;17|10 Het;-T 630;19|33 Hom;-T 763;3|36 N N - 3 100523771 100523771 A C snp intronic ABI3BP Abi3bp ENSG00000154175 ABI family member 3 binding protein chr3:100468000-100712359 mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis. GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP https://www.uniprot.org/uniprot/Q7Z7G0 https://www.ncbi.nlm.nih.gov/omim/?term=606279 http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP rs10511184 0.114417 0.1488 0 1 0 0 intronic intronic intronic ABI3BP ABI3BP ENSG00000154175 Na Na Na Na Na Na Het;A>C 445;16|16 Het;A>C 279;39|15 Hom;A>C 2196;0|73 N N - 3 100527237 100527237 T A snp intronic ABI3BP Abi3bp ENSG00000154175 ABI family member 3 binding protein chr3:100468000-100712359 mood disorder; Hip; Tunica Media; Coronary Artery Disease; Body Weights and Measures; Myocardial Infarction; Celiac Disease|; Glucose Mice homozygous for a knock-out allele exhibit reduced distance traveled at the periphery of an open field, but normal olfactory function, anxiety and depressive behaviors, and NNK-induced lung tumorigenesis. GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABI3BP https://www.uniprot.org/uniprot/Q7Z7G0 https://www.ncbi.nlm.nih.gov/omim/?term=606279 http://www.informatics.jax.org/searchtool/Search.do?query=ABI3BP&submit=Quick%0D%9740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABI3BP rs73152453 0.114417 0 0 1 0 0 intronic intronic intronic ABI3BP ABI3BP ENSG00000154175 Na Na Na Na Na Na Het;T>A 38;2|2 Het;T>A 139;3|5 Hom;T>A 285;0|9 N N - 3 10101851 10101851 C CA indel intronic FANCD2 Fancd2 ENSG00000144554 Fanconi anemia complementation group D2 chr3:10068098-10143614 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. TP53 Regulates Transcription of DNA Repair Genes GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCD2 https://www.uniprot.org/uniprot/Q9BXW9 https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613984 http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2 rs111589951 0 0 0 1 0 0 intronic intronic intronic FANCD2 FANCD2 ENSG00000144554 Na Na Na Na Na Na Het;+A 65;9|6 Ref Hom;+A 60;0|4 N N - 3 101146444 101146444 T G snp intronic SENP7 Senp7 ENSG00000138468 SUMO1/sentrin specific peptidase 7 chr3:101043049-101232085 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] GO:0006508;proteolysis;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IBA GO:0004930;G-protein coupled receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SENP7 https://www.uniprot.org/uniprot/Q9BQF6 https://www.ncbi.nlm.nih.gov/omim/?term=612846 http://www.informatics.jax.org/searchtool/Search.do?query=SENP7&submit=Quick%0D%7739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SENP7 rs17344542 0.425919 0 0 1 0 0 intronic intronic intronic SENP7 SENP7 ENSG00000138468 Na Na Na Na Na Na Het;T>G 208;7|11 Het;T>G 243;2|13 Hom;T>G 163;0|7 N N - 3 101212889 101212889 C T snp intronic SENP7 Senp7 ENSG00000138468 SUMO1/sentrin specific peptidase 7 chr3:101043049-101232085 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] GO:0006508;proteolysis;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IBA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IBA GO:0004930;G-protein coupled receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SENP7 https://www.uniprot.org/uniprot/Q9BQF6 https://www.ncbi.nlm.nih.gov/omim/?term=612846 http://www.informatics.jax.org/searchtool/Search.do?query=SENP7&submit=Quick%0D%7739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SENP7 rs3846088 0.425919 0 0 1 0 0 intronic intronic intronic SENP7 SENP7 ENSG00000138468 Na Na Na Na Na Na Het;C>T 87;8|4 Ref Hom;C>T 230;0|7 N N - 3 101571550 101571550 A G snp intronic NFKBIZ Nfkbiz ENSG00000144802 NFKB inhibitor zeta chr3:101546835-101579866 This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Hip; Neuroblastoma; Abdominal Fat; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Body Weights and Measures; null; Albuminuria; Multiple Sclerosis Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006954;inflammatory response;IEA GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFKBIZ https://www.uniprot.org/uniprot/Q9BYH8 https://www.ncbi.nlm.nih.gov/omim/?term=608004 http://www.informatics.jax.org/searchtool/Search.do?query=NFKBIZ&submit=Quick%0D%8661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKBIZ rs587555 0.508387 0.5753 0.6109 1 0 0 intronic intronic intronic NFKBIZ NFKBIZ ENSG00000144802 Na Na Na Na Na Na Het;A>G 946;62|46 Het;A>G 721;46|38 Hom;A>G 2861;0|104 N N - 3 101572822 101572822 C G snp intronic NFKBIZ Nfkbiz ENSG00000144802 NFKB inhibitor zeta chr3:101546835-101579866 This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Hip; Neuroblastoma; Abdominal Fat; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Body Weights and Measures; null; Albuminuria; Multiple Sclerosis Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006954;inflammatory response;IEA GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFKBIZ https://www.uniprot.org/uniprot/Q9BYH8 https://www.ncbi.nlm.nih.gov/omim/?term=608004 http://www.informatics.jax.org/searchtool/Search.do?query=NFKBIZ&submit=Quick%0D%8661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKBIZ rs2925334 0.541134 0 0 1 0 0 intronic intronic intronic NFKBIZ NFKBIZ ENSG00000144802 Na Na Na Na Na Na Het;C>G 140;11|6 Ref Hom;C>G 742;0|25 N N - 3 101574503 101574503 G A snp intronic NFKBIZ Nfkbiz ENSG00000144802 NFKB inhibitor zeta chr3:101546835-101579866 This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Hip; Neuroblastoma; Abdominal Fat; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Body Weights and Measures; null; Albuminuria; Multiple Sclerosis Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006954;inflammatory response;IEA GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFKBIZ https://www.uniprot.org/uniprot/Q9BYH8 https://www.ncbi.nlm.nih.gov/omim/?term=608004 http://www.informatics.jax.org/searchtool/Search.do?query=NFKBIZ&submit=Quick%0D%8661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKBIZ rs677011 0.542133 0 0 1 0 0 intronic intronic intronic NFKBIZ NFKBIZ ENSG00000144802 Na Na Na Na Na Na Het;G>A 265;9|9 Het;G>A 141;7|7 Hom;G>A 320;0|9 N N - 3 101576175 101576175 T C snp synonymous SNV T1975C L659L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NFKBIZ Nfkbiz ENSG00000144802 NFKB inhibitor zeta chr3:101546835-101579866 This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Hip; Neuroblastoma; Abdominal Fat; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Body Weights and Measures; null; Albuminuria; Multiple Sclerosis Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006954;inflammatory response;IEA GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFKBIZ https://www.uniprot.org/uniprot/Q9BYH8 https://www.ncbi.nlm.nih.gov/omim/?term=608004 http://www.informatics.jax.org/searchtool/Search.do?query=NFKBIZ&submit=Quick%0D%8661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKBIZ rs14134 0.534345 0.5917 0.5948 1 0 0 exonic exonic exonic NFKBIZ NFKBIZ ENSG00000144802 synonymous SNV synonymous SNV unknown NFKBIZ:NM_031419:exon11:c.T1975C:p.L659L,NFKBIZ:NM_001005474:exon12:c.T1675C:p.L559L, NFKBIZ:uc003dvo.3:exon12:c.T1675C:p.L559L,NFKBIZ:uc010hpo.3:exon11:c.T1675C:p.L559L,NFKBIZ:uc003dvp.3:exon11:c.T1975C:p.L659L,NFKBIZ:uc003dvq.3:exon12:c.T1609C:p.L537L, UNKNOWN Het;T>C 1075;77|50 Het;T>C 1517;47|65 Hom;T>C 2202;0|80 N N - 3 101576404 101576404 A T snp intronic NFKBIZ Nfkbiz ENSG00000144802 NFKB inhibitor zeta chr3:101546835-101579866 This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Hip; Neuroblastoma; Abdominal Fat; Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome; Body Weights and Measures; null; Albuminuria; Multiple Sclerosis Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006954;inflammatory response;IEA GO:0000932;P-body;IDA|GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFKBIZ https://www.uniprot.org/uniprot/Q9BYH8 https://www.ncbi.nlm.nih.gov/omim/?term=608004 http://www.informatics.jax.org/searchtool/Search.do?query=NFKBIZ&submit=Quick%0D%8661ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKBIZ rs622122 0.492612 0 0 1 0 0 intronic intronic intronic NFKBIZ NFKBIZ ENSG00000144802 Na Na Na Na Na Na Het;A>T 486;16|19 Het;A>T 263;16|11 Hom;A>T 431;0|14 N N - 3 101713472 101713472 C A snp ncRNA_exonic LOC152225 rs12629299 0.392971 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC152225 LOC152225 ENSG00000214407,ENSG00000241280 Na Na Na Na Na Na Het;C>A 1041;39|45 Het;C>A 1422;85|68 Hom;C>A 3566;2|131 N N - 3 105238890 105238891 CT C indel intronic ALCAM Alcam ENSG00000170017 activated leukocyte cell adhesion molecule chr3:105085753-105295744 This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] Cadaver; Lipoproteins; Type 2 Diabetes| edema | rosiglitazone Homozygous null mice display abnormal motor neuron and retinal ganglion cell morphology and retinal dysplasia. L1CAM interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0007155;cell adhesion;TAS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IMP|GO:0007165;signal transduction;TAS|GO:0007411;axon guidance;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0031290;retinal ganglion cell axon guidance;ISS|GO:0048846;axon extension involved in axon guidance;ISS|GO:1990138;neuron projection extension;ISS GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;ISS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0042101;T cell receptor complex;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALCAM https://www.ncbi.nlm.nih.gov/omim/?term=601662 http://www.informatics.jax.org/searchtool/Search.do?query=ALCAM&submit=Quick%0D%12617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALCAM rs11291806 0.758187 0 0.7187 1 0 0 intronic intronic intronic ALCAM ALCAM ENSG00000170017 Na Na Na Na Na Na Het;-T 410;13|24 Het;-T 361;16|22 Hom;-T 1026;3|48 N N - 3 106288279 106288279 C T snp intergenic CBLB Cblb ENSG00000114423 Cbl proto-oncogene B chr3:105374305-105588396 Multiple Sclerosis; Marijuana Abuse; multiple sclerosis; Hip; diabetes, type 1; Sleep; Creatinine; Basophils; Graves' disease Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006508;proteolysis;IBA|GO:0006607;NLS-bearing protein import into nucleus;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IBA|GO:0007175;negative regulation of epidermal growth factor-activated receptor activity;IBA|GO:0016567;protein ubiquitination;IEA|GO:0023051;regulation of signaling;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0045121;membrane raft;IBA GO:0001784;phosphotyrosine binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0016740;transferase activity;IEA|GO:0017124;SH3 domain binding;IBA|GO:0030971;receptor tyrosine kinase binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CBLB https://www.uniprot.org/uniprot/Q13191 https://www.ncbi.nlm.nih.gov/omim/?term=604491 http://www.informatics.jax.org/searchtool/Search.do?query=CBLB&submit=Quick%0D%4464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBLB rs1470422 0.542133 0 0 1 0 0 intergenic intergenic intergenic CBLB(dist=700392),LINC00882(dist=540358) CBLB(dist=700013),LINC00882(dist=267379) ENSG00000200610(dist=53434),ENSG00000200361(dist=119246) Na Na Na Na Na Na Het;C>T 152;17|8 Het;C>T 195;10|11 Hom;C>T 553;0|21 N N - 3 107047443 107047443 C T snp ncRNA_exonic AC063944.2 rs2676364 0.723842 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00883(dist=1632),CCDC54(dist=48745) LINC00883(dist=1632),CCDC54(dist=48745) ENSG00000241218 Na Na Na Na Na Na Het;C>T 69;5|4 Het;C>T 116;5|5 Hom;C>T 257;0|11 N N - 3 107562783 107562783 A T snp ncRNA_intronic LINC00635 rs35349351 0.174121 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00635 LINC00635 ENSG00000241469 Na Na Na Na Na Na Het;A>T 66;5|3 Het;A>T 35;2|2 Hom;A>T 126;0|4 N N - 3 107937286 107937286 A G snp intronic IFT57 Ift57 ENSG00000114446 intraflagellar transport 57 chr3:107879659-107941417 Hip; Platelet Aggregation Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. Intraflagellar transport GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IDA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007224;smoothened signaling pathway;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042073;intraciliary transport;IBA|GO:0042981;regulation of apoptotic process;IDA|GO:0044458;motile cilium assembly;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IBA|GO:0060972;left/right pattern formation;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0030992;intraciliary transport particle B;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFT57 https://www.uniprot.org/uniprot/Q9NWB7 https://hpo.jax.org/app/browse/search?q=IFT57&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606621 http://www.informatics.jax.org/searchtool/Search.do?query=IFT57&submit=Quick%0D%4466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT57 rs1289760 0.758387 0 0 1 0 0 intronic intronic intronic IFT57 IFT57 ENSG00000114446 Na Na Na Na Na Na Het;A>G 197;4|7 Ref Hom;A>G 409;0|14 N N - 3 109463699 109463699 A G snp ncRNA_intronic AC078980.1 rs13082356 0.124401 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR4445(dist=141955),PVRL3-AS1(dist=1300464) FLJ25363(dist=249685),U6atac(dist=806993) ENSG00000242029 Na Na Na Na Na Na Het;A>G 315;14|14 Het;A>G 867;23|37 Hom;A>G 1764;0|67 N N - 3 109663712 109663712 C T snp intergenic MIR4445 rs623226 0.40016 0 0 1 0 0 intergenic intergenic intergenic MIR4445(dist=341968),PVRL3-AS1(dist=1100451) FLJ25363(dist=449698),U6atac(dist=606980) ENSG00000214380(dist=27925),ENSG00000243945(dist=32675) Na Na Na Na Na Na Het;C>T 580;30|28 Het;C>T 659;48|35 Hom;C>T 2696;0|99 N N - 3 111637904 111637904 G A snp intronic PHLDB2 Phldb2 ENSG00000144824 pleckstrin homology like domain family B member 2 chr3:111451344-111695364 Cognitive performance ; Tobacco Use Disorder Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2 https://www.uniprot.org/uniprot/Q86SQ0 https://www.ncbi.nlm.nih.gov/omim/?term=610298 http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2 rs2399399 0.835663 0.8634 0.8648 1 0 0 intronic intronic intronic PHLDB2 PHLDB2 ENSG00000144824 Na Na Na Na Na Na Het;G>A 898;42|40 Het;G>A 495;45|27 Hom;G>A 2234;0|79 N N - 3 111638132 111638132 A C snp intronic PHLDB2 Phldb2 ENSG00000144824 pleckstrin homology like domain family B member 2 chr3:111451344-111695364 Cognitive performance ; Tobacco Use Disorder Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2 https://www.uniprot.org/uniprot/Q86SQ0 https://www.ncbi.nlm.nih.gov/omim/?term=610298 http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2 rs951660 0.835863 0 0 1 0 0 intronic intronic intronic PHLDB2 PHLDB2 ENSG00000144824 Na Na Na Na Na Na Het;A>C 705;14|26 Het;A>C 502;15|19 Hom;A>C 1478;0|47 N N - 3 111638952 111638952 C T snp intronic PHLDB2 Phldb2 ENSG00000144824 pleckstrin homology like domain family B member 2 chr3:111451344-111695364 Cognitive performance ; Tobacco Use Disorder Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2 https://www.uniprot.org/uniprot/Q86SQ0 https://www.ncbi.nlm.nih.gov/omim/?term=610298 http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2 rs6779756 0.835663 0 0 1 0 0 intronic intronic intronic PHLDB2 PHLDB2 ENSG00000144824 Na Na Na Na Na Na Het;C>T 153;2|5 Het;C>T 32;3|2 Hom;C>T 140;0|5 N N - 3 111639353 111639353 G T snp intronic PHLDB2 Phldb2 ENSG00000144824 pleckstrin homology like domain family B member 2 chr3:111451344-111695364 Cognitive performance ; Tobacco Use Disorder Mice homozygous for a conditional allele activated in neurons exhibit impaired LTP. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010470;regulation of gastrulation;IMP|GO:0010717;regulation of epithelial to mesenchymal transition;IMP|GO:0045184;establishment of protein localization;IMP|GO:0051497;negative regulation of stress fiber assembly;IMP|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IGI|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1904261;positive regulation of basement membrane assembly involved in embryonic body morphogenesis;IGI GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031252;cell leading edge;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045180;basal cortex;IDA GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PHLDB2 https://www.uniprot.org/uniprot/Q86SQ0 https://www.ncbi.nlm.nih.gov/omim/?term=610298 http://www.informatics.jax.org/searchtool/Search.do?query=PHLDB2&submit=Quick%0D%8666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDB2 rs937551 0.84405 0 0 1 0 0 intronic intronic intronic PHLDB2 PHLDB2 ENSG00000144824 Na Na Na Na Na Na Het;G>T 433;12|17 Het;G>T 234;19|11 Hom;G>T 635;0|22 N N - 3 112052103 112052103 G T snp intronic CD200 Cd200 ENSG00000091972 CD200 molecule chr3:112051194-112081659 This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arteries; Cholesterol; Myocardial Infarction; Atrial Fibrillation; Tobacco Use Disorder; Cholesterol, LDL Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IBA|GO:0043031;negative regulation of macrophage activation;IEA|GO:0050776;regulation of immune response;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CD200 https://www.uniprot.org/uniprot/P41217 https://www.ncbi.nlm.nih.gov/omim/?term=155970 http://www.informatics.jax.org/searchtool/Search.do?query=CD200&submit=Quick%0D%2168ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD200 rs2276772 0.211462 0.2558 0.2687 1 0 0 intronic intronic intronic CD200 CD200 ENSG00000091972 Na Na Na Na Na Na Het;G>T 810;45|41 Het;G>T 586;26|28 Hom;G>T 2369;0|89 N N - 3 112063850 112063850 C A snp nonsynonymous SNV C136A P46T hydrophobic,neutral polar,hydrophilic,neutral CD200 Cd200 ENSG00000091972 CD200 molecule chr3:112051194-112081659 This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arteries; Cholesterol; Myocardial Infarction; Atrial Fibrillation; Tobacco Use Disorder; Cholesterol, LDL Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IBA|GO:0043031;negative regulation of macrophage activation;IEA|GO:0050776;regulation of immune response;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CD200 https://www.uniprot.org/uniprot/P41217 https://www.ncbi.nlm.nih.gov/omim/?term=155970 http://www.informatics.jax.org/searchtool/Search.do?query=CD200&submit=Quick%0D%2168ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD200 rs2272022 0.202476 0.2896 0.2841 0.23 3 13 exonic exonic exonic CD200 CD200 ENSG00000091972 nonsynonymous SNV nonsynonymous SNV unknown CD200:NM_001004196:exon4:c.C211A:p.P71T,CD200:NM_005944:exon3:c.C136A:p.P46T, CD200:uc003dyx.3:exon3:c.C136A:p.P46T,CD200:uc003dyw.3:exon4:c.C211A:p.P71T, UNKNOWN Het;C>A 632;27|26 Het;C>A 538;36|29 Hom;C>A 2200;0|78 N N - 3 112927487 112927487 G A snp intergenic LOC101929717 rs9884006 0.429313 0 0 1 0 0 intergenic intergenic intergenic LOC101929717(dist=40909),BOC(dist=2825) C3orf17(dist=188932),BOC(dist=2925) ENSG00000240057(dist=25339),ENSG00000144857(dist=2363) Na Na Na Na Na Na Het;G>A 315;13|13 Het;G>A 447;20|22 Hom;G>A 1235;2|47 N N - 3 113010303 113010303 G A snp UTR3 *101C>T CFAP44 Cfap44 rs17321330 0.369808 0 0 1 0 0 UTR3 UTR3 UTR3 CFAP44(NM_001164496:c.*101C>T) WDR52(uc010hqj.2:c.*101C>T,uc003ead.2:c.*101C>T) ENSG00000206530(ENST00000393845:c.*101C>T,ENST00000489244:c.*589C>T,ENST00000465636:c.*101C>T,ENST00000308346:c.*356C>T,ENST00000461734:c.*356C>T) Na Na Na Na Na Na Het;G>A 81;1|4 Ref Hom;G>A 162;0|5 N N - 3 113955164 113955164 T G snp nonsynonymous SNV A758C D253A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral ZNF80 ENSG00000174255 zinc finger protein 80 chr3:113953483-113956425 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF80 https://www.ncbi.nlm.nih.gov/omim/?term=194553 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF80&submit=Quick%0D%13497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF80 rs3732782 0.694089 0.6966 0.6567 0.08 1 12 exonic exonic exonic ZNF80 ZNF80 ENSG00000174255 nonsynonymous SNV nonsynonymous SNV unknown ZNF80:NM_007136:exon1:c.A758C:p.D253A, ZNF80:uc010hqo.3:exon1:c.A758C:p.D253A, UNKNOWN Het;T>G 953;56|44 Het;T>G 520;45|29 Hom;T>G 1742;0|64 N N - 3 113955265 113955265 G A snp synonymous SNV C657T C219C polar,hydrophobic,neutral polar,hydrophobic,neutral ZNF80 ENSG00000174255 zinc finger protein 80 chr3:113953483-113956425 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF80 https://www.ncbi.nlm.nih.gov/omim/?term=194553 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF80&submit=Quick%0D%13497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF80 rs6438190 0.693091 0.6968 0.6566 1 0 0 exonic exonic exonic ZNF80 ZNF80 ENSG00000174255 synonymous SNV synonymous SNV unknown ZNF80:NM_007136:exon1:c.C657T:p.C219C, ZNF80:uc010hqo.3:exon1:c.C657T:p.C219C, UNKNOWN Het;G>A 602;29|24 Het;G>A 268;25|14 Hom;G>A 1278;0|47 N N - 3 113955320 113955320 C T snp nonsynonymous SNV G602A R201H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ZNF80 ENSG00000174255 zinc finger protein 80 chr3:113953483-113956425 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF80 https://www.ncbi.nlm.nih.gov/omim/?term=194553 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF80&submit=Quick%0D%13497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF80 rs6438191 0.692692 0.6968 0.6566 0.08 1 12 exonic exonic exonic ZNF80 ZNF80 ENSG00000174255 nonsynonymous SNV nonsynonymous SNV unknown ZNF80:NM_007136:exon1:c.G602A:p.R201H, ZNF80:uc010hqo.3:exon1:c.G602A:p.R201H, UNKNOWN Het;C>T 635;29|29 Het;C>T 344;24|18 Hom;C>T 1407;0|53 N N - 3 116745869 116745869 A G snp ncRNA_exonic PTMAP8 rs17662485 0.444289 0 0 1 0 0 intergenic upstream ncRNA_exonic LINC00901(dist=94784),IGSF11(dist=1873610) JB175279 ENSG00000243014 Na Na Na Na Na Na Het;A>G 161;5|7 Het;A>G 108;10|6 Hom;A>G 269;0|12 N N - 3 116750564 116750564 A G snp intronic LSAMP Lsamp ENSG00000185565 limbic system-associated membrane protein chr3:115521235-117716095 This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Atherosclerosis|Coronary Artery Disease; Tobacco Use Disorder; suicide Mice homozygous for mutations in this gene are hyperresponsive to novel environments. Mice homozygous for another knock-out allele exhibit reduced barbering, whisker trimming, anxiety, dominance, and aggression. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007399;nervous system development;TAS|GO:0035641;locomotory exploration behavior;IEA GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LSAMP https://www.ncbi.nlm.nih.gov/omim/?term=603241 http://www.informatics.jax.org/searchtool/Search.do?query=LSAMP&submit=Quick%0D%15439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSAMP rs4855893 0.623203 0 0 1 0 0 intergenic intergenic intronic LINC00901(dist=99479),IGSF11(dist=1868915) JB175279(dist=4164),EU250752(dist=1476809) ENSG00000185565 Na Na Na Na Na Na Het;A>G 366;16|15 Het;A>G 258;14|13 Hom;A>G 888;0|31 N N - 3 117300909 117300909 G A snp intronic LSAMP Lsamp ENSG00000185565 limbic system-associated membrane protein chr3:115521235-117716095 This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Atherosclerosis|Coronary Artery Disease; Tobacco Use Disorder; suicide Mice homozygous for mutations in this gene are hyperresponsive to novel environments. Mice homozygous for another knock-out allele exhibit reduced barbering, whisker trimming, anxiety, dominance, and aggression. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;IEA|GO:0007399;nervous system development;TAS|GO:0035641;locomotory exploration behavior;IEA GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LSAMP https://www.ncbi.nlm.nih.gov/omim/?term=603241 http://www.informatics.jax.org/searchtool/Search.do?query=LSAMP&submit=Quick%0D%15439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSAMP rs2036395 0.535543 0 0 1 0 0 intergenic intergenic intronic LINC00901(dist=649824),IGSF11(dist=1318570) JB175279(dist=554509),EU250752(dist=926464) ENSG00000185565 Na Na Na Na Na Na Het;G>A 364;13|14 Ref Hom;G>A 230;0|8 N N - 3 117881826 117881826 G A snp ncRNA_intronic AC068633.1 rs9821810 0.794329 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00901(dist=1230741),IGSF11(dist=737653) JB175279(dist=1135426),EU250752(dist=345547) ENSG00000243276 Na Na Na Na Na Na Het;G>A 55;1|4 Ref Hom;G>A 94;0|5 N N - 3 118867047 118867047 C G snp nonsynonymous SNV C1419G D473E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) C3orf30 4930435E12Rik ENSG00000163424 chromosome 3 open reading frame 30 chr3:118864997-118878889 http://www.genecards.org/index.php?path=/Search/keyword/C3orf30 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf30&submit=Quick%0D%10960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf30 rs9289122 0.469649 0.4748 0.4720 0.08 1 13 exonic exonic exonic C3orf30 C3orf30 ENSG00000163424 nonsynonymous SNV nonsynonymous SNV unknown C3orf30:NM_152539:exon2:c.C1419G:p.D473E, C3orf30:uc003ecb.1:exon2:c.C1419G:p.D473E,C3orf30:uc011biw.1:exon2:c.C1419G:p.D473E, UNKNOWN Het;C>G 850;45|38 Het;C>G 1105;76|51 Hom;C>G 3292;1|110 N N - 3 118870025 118870025 A AC indel intronic C3orf30 4930435E12Rik ENSG00000163424 chromosome 3 open reading frame 30 chr3:118864997-118878889 http://www.genecards.org/index.php?path=/Search/keyword/C3orf30 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf30&submit=Quick%0D%10960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf30 rs11373158 0.469649 0.4742 0.4716 1 0 0 intronic intronic intronic C3orf30 C3orf30 ENSG00000163424,ENSG00000251012 Na Na Na Na Na Na Het;+C 99;3|4 Het;+C 48;8|3 Hom;+C 592;0|16 N N - 3 11925765 11925765 G A snp ncRNA_intronic FANCD2P2 rs142021956 0.0271565 0 0 1 0 0 intergenic intergenic ncRNA_intronic TAMM41(dist=37372),SYN2(dist=120069) TAMM41(dist=37413),DQ583118(dist=26418) ENSG00000230342 Na Na Na Na Na Na Het;G>A 69;3|3 Het;G>A 70;4|3 Hom;G>A 126;0|4 N N - 3 119334986 119334986 G A snp intronic PLA1A Pla1a ENSG00000144837 phospholipase A1 member A chr3:119316689-119348658 The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] Type 2 Diabetes| edema | rosiglitazone Acyl chain remodelling of PS GO:0006629;lipid metabolic process;TAS|GO:0006658;phosphatidylserine metabolic process;TAS|GO:0016042;lipid catabolic process;IEA|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS GO:0002080;acrosomal membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0052739;phosphatidylserine 1-acylhydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PLA1A https://www.uniprot.org/uniprot/Q53H76 https://www.ncbi.nlm.nih.gov/omim/?term=607460 http://www.informatics.jax.org/searchtool/Search.do?query=PLA1A&submit=Quick%0D%8669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA1A rs2247660 0.700479 0.5789 0.5871 1 0 0 intronic intronic intronic PLA1A PLA1A ENSG00000144837 Na Na Na Na Na Na Het;G>A 184;25|9 Het;G>A 426;13|19 Hom;G>A 801;0|29 N N - 3 120428621 120428621 T C snp intronic RABL3 Rabl3 ENSG00000144840 RAB, member of RAS oncogene family like 3 chr3:120405528-120461840 GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL3 https://www.uniprot.org/uniprot/Q5HYI8 http://www.informatics.jax.org/searchtool/Search.do?query=RABL3&submit=Quick%0D%8670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL3 rs11720353 0.201677 0.2926 0.2806 1 0 0 intronic intronic intronic RABL3 RABL3 ENSG00000144840 Na Na Na Na Na Na Het;T>C 599;17|25 Het;T>C 1307;35|55 Hom;T>C 2433;0|93 N N - 3 120525678 120525678 T A snp downstream NAP1L1P3 rs611967 0.609425 0 0 1 0 0 intergenic intergenic downstream GTF2E1(dist=23762),STXBP5L(dist=101372) GTF2E1(dist=23762),BC032918(dist=26609) ENSG00000213371 Na Na Na Na Na Na Het;T>A 126;17|7 Het;T>A 660;10|28 Hom;T>A 878;0|33 N N - 3 122354037 122354037 A G snp synonymous SNV A1743G K581K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PARP15 ENSG00000173200 poly(ADP-ribose) polymerase family member 15 chr3:122296449-122357894 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008] Diabetes Mellitus; Depressive Disorder, Major; Type 2 Diabetes| edema | rosiglitazone; Heart Rate GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARP15 https://www.ncbi.nlm.nih.gov/omim/?term=612066 http://www.informatics.jax.org/searchtool/Search.do?query=PARP15&submit=Quick%0D%13307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP15 rs1106346 0.358227 0.3320 0.3685 1 0 0 exonic exonic exonic PARP15 PARP15 ENSG00000173200 synonymous SNV synonymous SNV unknown PARP15:NM_001113523:exon11:c.A1743G:p.K581K,PARP15:NM_152615:exon7:c.A1041G:p.K347K, PARP15:uc003efp.1:exon7:c.A1041G:p.K347K,PARP15:uc003efo.1:exon13:c.A984G:p.K328K,PARP15:uc003efm.2:exon11:c.A1743G:p.K581K,PARP15:uc003efn.2:exon8:c.A1158G:p.K386K,PARP15:uc011bjt.1:exon6:c.A834G:p.K278K, UNKNOWN Het;A>G 916;32|38 Het;A>G 1677;39|45 Hom;A>G 3714;0|93 N N - 3 122354052 122354052 A G snp intronic PARP15 ENSG00000173200 poly(ADP-ribose) polymerase family member 15 chr3:122296449-122357894 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008] Diabetes Mellitus; Depressive Disorder, Major; Type 2 Diabetes| edema | rosiglitazone; Heart Rate GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARP15 https://www.ncbi.nlm.nih.gov/omim/?term=612066 http://www.informatics.jax.org/searchtool/Search.do?query=PARP15&submit=Quick%0D%13307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP15 rs1106345 0.240216 0.1443 0.1874 1 0 0 intronic intronic intronic PARP15 PARP15 ENSG00000173200 Na Na Na Na Na Na Het;A>G 692;27|28 Het;A>G 1524;33|39 Hom;A>G 3255;0|69 N N - 3 122354792 122354792 G A snp nonsynonymous SNV G1180A G394R aliphatic,neutral polar,hydrophilic,charged(+) PARP15 ENSG00000173200 poly(ADP-ribose) polymerase family member 15 chr3:122296449-122357894 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008] Diabetes Mellitus; Depressive Disorder, Major; Type 2 Diabetes| edema | rosiglitazone; Heart Rate GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARP15 https://www.ncbi.nlm.nih.gov/omim/?term=612066 http://www.informatics.jax.org/searchtool/Search.do?query=PARP15&submit=Quick%0D%13307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP15 rs12489170 0.221645 0.1268 0.1805 0.75 9 12 exonic exonic exonic PARP15 PARP15 ENSG00000173200 nonsynonymous SNV nonsynonymous SNV unknown PARP15:NM_001113523:exon12:c.G1882A:p.G628R,PARP15:NM_152615:exon8:c.G1180A:p.G394R, PARP15:uc003efp.1:exon8:c.G1180A:p.G394R,PARP15:uc003efo.1:exon14:c.G1123A:p.G375R,PARP15:uc003efm.2:exon12:c.G1882A:p.G628R,PARP15:uc003efn.2:exon9:c.G1297A:p.G433R,PARP15:uc011bjt.1:exon7:c.G973A:p.G325R, UNKNOWN Het;G>A 752;56|38 Het;G>A 1046;40|47 Hom;G>A 2366;0|84 N N - 3 122513972 122513972 T C snp UTR5 -68T>C DIRC2 Dirc2 ENSG00000138463 disrupted in renal carcinoma 2 chr3:122513642-122599986 This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008] RENAL CELL CARCINOMA NONPAPILLARY GO:0006810;transport;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/DIRC2 https://www.uniprot.org/uniprot/Q96SL1 https://www.ncbi.nlm.nih.gov/omim/?term=602773 http://www.informatics.jax.org/searchtool/Search.do?query=DIRC2&submit=Quick%0D%7738ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DIRC2 rs117322422 0.0415335 0 0 1 0 0 UTR5 UTR5 UTR5 DIRC2(NM_032839:c.-68T>C) DIRC2(uc003efw.4:c.-68T>C,uc010hrm.3:c.-31724T>C) ENSG00000138463(ENST00000261038:c.-68T>C,ENST00000477647:c.-68T>C) Na Na Na Na Na Na Het;T>C 34;7|3 Het;T>C 129;3|6 Hom;T>C 212;0|6 N N - 3 122606715 122606715 G A snp ncRNA_exonic LOC100129550 rs112577971 0.052516 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC100129550 LOC100129550(uc010hrn.3:c.*527G>A) ENSG00000273033 Na Na Na Na Na Na Het;G>A 629;14|24 Het;G>A 305;32|15 Hom;G>A 1242;0|42 N N - 3 122607141 122607141 G C snp ncRNA_exonic LOC100129550 rs79680123 0.052516 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC100129550 LOC100129550(uc010hrn.3:c.*953G>C) ENSG00000273033 Na Na Na Na Na Na Het;G>C 1911;91|85 Het;G>C 1293;114|58 Hom;G>C 4217;2|152 N N - 3 122610372 122610372 G A snp ncRNA_exonic LOC100129550 rs77605121 0.0585064 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC100129550 LOC100129550(uc010hrn.3:c.*4184G>A) ENSG00000273033 Na Na Na Na Na Na Het;G>A 1695;94|76 Het;G>A 1521;66|66 Hom;G>A 4264;0|148 N N - 3 122628071 122628071 C T snp UTR3 *1221G>A SEMA5B Sema5b ENSG00000082684 semaphorin 5B chr3:122628041-122747452 This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Esophageal Neoplasms Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. O-glycosylation of TSR domain-containing proteins GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0048675;axon extension;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0097485;neuron projection guidance;IEA|GO:1990138;neuron projection extension;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA5B https://www.uniprot.org/uniprot/Q9P283 https://www.ncbi.nlm.nih.gov/omim/?term=609298 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA5B&submit=Quick%0D%1810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA5B rs80353916 0.0441294 0 0 1 0 0 UTR3 UTR3 UTR3 SEMA5B(NM_001256348:c.*919G>A,NM_001031702:c.*919G>A,NM_001256346:c.*919G>A,NM_001256347:c.*919G>A) SEMA5B(uc003efy.2:c.*919G>A,uc031sbm.1:c.*919G>A,uc003egb.2:c.*919G>A,uc003efz.2:c.*919G>A,uc011bju.2:c.*919G>A) ENSG00000082684(ENST00000475244:c.*1221G>A,ENST00000357599:c.*919G>A,ENST00000451541:c.*919G>A,ENST00000195173:c.*1221G>A) Na Na Na Na Na Na Het;C>T 1042;49|46 Het;C>T 730;42|36 Hom;C>T 2253;0|78 N N - 3 122632436 122632436 A G snp nonsynonymous SNV T2051C M684T hydrophobic,neutral polar,hydrophilic,neutral SEMA5B Sema5b ENSG00000082684 semaphorin 5B chr3:122628041-122747452 This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Esophageal Neoplasms Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. O-glycosylation of TSR domain-containing proteins GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0048675;axon extension;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0097485;neuron projection guidance;IEA|GO:1990138;neuron projection extension;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA5B https://www.uniprot.org/uniprot/Q9P283 https://www.ncbi.nlm.nih.gov/omim/?term=609298 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA5B&submit=Quick%0D%1810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA5B rs2276781 0.061901 0.0482 0.0596 0.15 2 13 exonic exonic exonic SEMA5B SEMA5B ENSG00000082684 nonsynonymous SNV nonsynonymous SNV unknown SEMA5B:NM_001031702:exon16:c.T2225C:p.M742T,SEMA5B:NM_001256346:exon16:c.T2225C:p.M742T,SEMA5B:NM_001256347:exon16:c.T2387C:p.M796T,SEMA5B:NM_001256348:exon15:c.T2051C:p.M684T, SEMA5B:uc011bju.2:exon15:c.T2051C:p.M684T,SEMA5B:uc031sbm.1:exon16:c.T2387C:p.M796T,SEMA5B:uc010hro.2:exon15:c.T2051C:p.M684T,SEMA5B:uc003egb.2:exon16:c.T2225C:p.M742T,SEMA5B:uc003efz.2:exon16:c.T2225C:p.M742T, UNKNOWN Het;A>G 1359;73|65 Het;A>G 1182;59|54 Hom;A>G 3117;0|118 N N - 3 122645304 122645304 G A snp synonymous SNV C1071T N357N polar,hydrophilic,neutral polar,hydrophilic,neutral SEMA5B Sema5b ENSG00000082684 semaphorin 5B chr3:122628041-122747452 This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Esophageal Neoplasms Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. O-glycosylation of TSR domain-containing proteins GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0048675;axon extension;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0097485;neuron projection guidance;IEA|GO:1990138;neuron projection extension;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA5B https://www.uniprot.org/uniprot/Q9P283 https://www.ncbi.nlm.nih.gov/omim/?term=609298 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA5B&submit=Quick%0D%1810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA5B rs2276776 0.0569089 0.0385 0.0455 1 0 0 exonic exonic exonic SEMA5B SEMA5B ENSG00000082684 synonymous SNV synonymous SNV unknown SEMA5B:NM_001031702:exon9:c.C1071T:p.N357N,SEMA5B:NM_001256346:exon9:c.C1071T:p.N357N,SEMA5B:NM_001256347:exon9:c.C1233T:p.N411N,SEMA5B:NM_001256348:exon8:c.C897T:p.N299N, SEMA5B:uc011bju.2:exon8:c.C897T:p.N299N,SEMA5B:uc031sbm.1:exon9:c.C1233T:p.N411N,SEMA5B:uc010hro.2:exon8:c.C897T:p.N299N,SEMA5B:uc003egb.2:exon9:c.C1071T:p.N357N,SEMA5B:uc003efz.2:exon9:c.C1071T:p.N357N, UNKNOWN Het;G>A 1944;91|86 Het;G>A 2388;84|105 Hom;G>A 4808;2|177 N N - 3 122646734 122646734 C T snp synonymous SNV G753A T251T polar,hydrophilic,neutral polar,hydrophilic,neutral SEMA5B Sema5b ENSG00000082684 semaphorin 5B chr3:122628041-122747452 This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Esophageal Neoplasms Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. O-glycosylation of TSR domain-containing proteins GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0048675;axon extension;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0097485;neuron projection guidance;IEA|GO:1990138;neuron projection extension;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA5B https://www.uniprot.org/uniprot/Q9P283 https://www.ncbi.nlm.nih.gov/omim/?term=609298 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA5B&submit=Quick%0D%1810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA5B rs2276775 0.0840655 0.0978 0.0991 1 0 0 exonic exonic exonic SEMA5B SEMA5B ENSG00000082684 synonymous SNV synonymous SNV unknown SEMA5B:NM_001031702:exon8:c.G753A:p.T251T,SEMA5B:NM_001256346:exon8:c.G753A:p.T251T,SEMA5B:NM_001256347:exon8:c.G915A:p.T305T,SEMA5B:NM_001256348:exon7:c.G579A:p.T193T, SEMA5B:uc011bju.2:exon7:c.G579A:p.T193T,SEMA5B:uc031sbm.1:exon8:c.G915A:p.T305T,SEMA5B:uc010hro.2:exon7:c.G579A:p.T193T,SEMA5B:uc003egb.2:exon8:c.G753A:p.T251T,SEMA5B:uc003efz.2:exon8:c.G753A:p.T251T, UNKNOWN Het;C>T 1324;85|63 Het;C>T 1105;71|55 Hom;C>T 3681;0|139 N N - 3 122667277 122667277 A G snp intronic SEMA5B Sema5b ENSG00000082684 semaphorin 5B chr3:122628041-122747452 This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Esophageal Neoplasms Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. O-glycosylation of TSR domain-containing proteins GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA|GO:0048675;axon extension;IEA|GO:0050908;detection of light stimulus involved in visual perception;IEA|GO:0097485;neuron projection guidance;IEA|GO:1990138;neuron projection extension;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA5B https://www.uniprot.org/uniprot/Q9P283 https://www.ncbi.nlm.nih.gov/omim/?term=609298 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA5B&submit=Quick%0D%1810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA5B rs2288678 0.11222 0 0 1 0 0 intronic intronic intronic SEMA5B SEMA5B ENSG00000082684 Na Na Na Na Na Na Het;A>G 515;13|21 Het;A>G 249;12|11 Hom;A>G 731;0|27 N N - 3 125465687 125465687 G A snp upstream AF186996.1 rs13100801 0.11222 0 0 1 0 0 intergenic intergenic upstream OSBPL11(dist=151306),MIR548I1(dist=43560) TRNA_Glu(dist=52439),MIR548I1(dist=43560) ENSG00000179170 Na Na Na Na Na Na Het;G>A 33;3|2 Ref Hom;G>A 71;0|4 N N - 3 12584899 12584899 A C snp intronic MKRN2OS Mkrn2os rs2454433 0.327476 0 0 1 0 0 intronic intronic intronic MKRN2OS C3orf83 ENSG00000225526 Na Na Na Na Na Na Het;A>C 238;6|7 Ref Hom;A>C 165;0|5 N N - 3 126227185 126227185 G A snp intronic UROC1 Uroc1 ENSG00000159650 urocanate hydratase 1 chr3:126200124-126236616 This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] UROCANASE DEFICIENCY Histidine catabolism GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA GO:0005829;cytosol;TAS GO:0016153;urocanate hydratase activity;IDA|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UROC1 https://hpo.jax.org/app/browse/search?q=UROC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613012 http://www.informatics.jax.org/searchtool/Search.do?query=UROC1&submit=Quick%0D%10359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UROC1 rs16837531 0.558307 0 0 1 0 0 intronic intronic intronic UROC1 UROC1 ENSG00000159650 Na Na Na Na Na Na Het;G>A 132;9|6 Het;G>A 89;7|5 Hom;G>A 135;0|5 N N - 3 126228410 126228410 G A snp intronic UROC1 Uroc1 ENSG00000159650 urocanate hydratase 1 chr3:126200124-126236616 This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] UROCANASE DEFICIENCY Histidine catabolism GO:0006547;histidine metabolic process;IEA|GO:0006548;histidine catabolic process;TAS|GO:0019556;histidine catabolic process to glutamate and formamide;IEA|GO:0019557;histidine catabolic process to glutamate and formate;IEA GO:0005829;cytosol;TAS GO:0016153;urocanate hydratase activity;IDA|GO:0016829;lyase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UROC1 https://hpo.jax.org/app/browse/search?q=UROC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613012 http://www.informatics.jax.org/searchtool/Search.do?query=UROC1&submit=Quick%0D%10359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UROC1 rs729456 0.430312 0.4314 0.5335 1 0 0 intronic intronic intronic UROC1 UROC1 ENSG00000159650 Na Na Na Na Na Na Het;G>A 396;21|19 Het;G>A 502;16|22 Hom;G>A 1333;0|50 N N - 3 127410959 127410959 G T snp UTR3 *82C>A MGLL Mgll ENSG00000074416 monoglyceride lipase chr3:127407909-127542051 This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] C-Reactive Protein; Obesity; Hemoglobins; anorexia nervosa; Type 2 Diabetes| edema | rosiglitazone; alcoholism Mice homozygous for a gene trapped allele exhibit hypoalgesia, increased body temperature, and decreased fatty acid levels. Mice homozygous for a targeted allele exhibit impaired lipolysis and improved glucose homeostasis on a high-fat diet. Arachidonate production from DAG GO:0006629;lipid metabolic process;TAS|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006954;inflammatory response;TAS|GO:0009966;regulation of signal transduction;IBA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;ISS|GO:0019433;triglyceride catabolic process;IEA|GO:0036155;acylglycerol acyl-chain remodeling;TAS|GO:0046464;acylglycerol catabolic process;IDA|GO:0050727;regulation of inflammatory response;ISS|GO:0051930;regulation of sensory perception of pain;ISS|GO:2000124;regulation of endocannabinoid signaling pathway;ISS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;ISS GO:0004622;lysophospholipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0047372;acylglycerol lipase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGLL https://www.uniprot.org/uniprot/Q99685 https://www.ncbi.nlm.nih.gov/omim/?term=609699 http://www.informatics.jax.org/searchtool/Search.do?query=MGLL&submit=Quick%0D%1503ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGLL rs814130 0.71885 0 0 1 0 0 UTR3 UTR3 UTR3 MGLL(NM_007283:c.*82C>A,NM_001256585:c.*82C>A,NM_001003794:c.*82C>A) MGLL(uc003ejv.4:c.*82C>A,uc003ejw.4:c.*82C>A,uc011bko.3:c.*82C>A,uc003ejx.4:c.*82C>A) ENSG00000074416(ENST00000434178:c.*82C>A,ENST00000398104:c.*82C>A,ENST00000265052:c.*82C>A,ENST00000496306:c.*82C>A) Na Na Na Na Na Na Het;G>T 85;3|4 Ref Hom;G>T 251;0|9 N N - 3 129660536 129660536 G A snp intergenic TMCC1-AS1 rs4688776 0.728435 0 0 1 0 0 intergenic intergenic intergenic TMCC1-AS1(dist=32781),TRH(dist=32700) LOC100507032(dist=32781),TRH(dist=32700) ENSG00000271270(dist=23118),ENSG00000250643(dist=12412) Na Na Na Na Na Na Het;G>A 45;2|3 Ref Hom;G>A 60;0|3 N N - 3 129660555 129660555 T G snp intergenic TMCC1-AS1 rs71619941 0.730232 0 0 1 0 0 intergenic intergenic intergenic TMCC1-AS1(dist=32800),TRH(dist=32681) LOC100507032(dist=32800),TRH(dist=32681) ENSG00000271270(dist=23137),ENSG00000250643(dist=12393) Na Na Na Na Na Na Het;T>G 47;2|3 Ref Hom;T>G 63;0|3 N N - 3 129660574 129660574 G C snp intergenic TMCC1-AS1 rs13099580 0.723842 0 0 1 0 0 intergenic intergenic intergenic TMCC1-AS1(dist=32819),TRH(dist=32662) LOC100507032(dist=32819),TRH(dist=32662) ENSG00000271270(dist=23156),ENSG00000250643(dist=12374) Na Na Na Na Na Na Het;G>C 46;2|3 Ref Hom;G>C 64;0|3 N N - 3 129744765 129744765 G A snp intergenic TRH Trh ENSG00000170893 thyrotropin releasing hormone chr3:129693148-129696781 This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [provided by RefSeq, May 2013] blood pressure, arterial hypertension; Psychiatric Disorders; Bone Mineral Density; Bulimia; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. G alpha (q) signalling events GO:0001666;response to hypoxia;IEA|GO:0001692;histamine metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007628;adult walking behavior;IEA|GO:0009409;response to cold;IEA|GO:0009749;response to glucose;IEA|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0014050;negative regulation of glutamate secretion;IEA|GO:0014054;positive regulation of gamma-aminobutyric acid secretion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0042755;eating behavior;IEA|GO:0045471;response to ethanol;IEA|GO:0051412;response to corticosterone;IEA|GO:2000252;negative regulation of feeding behavior;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0030141;secretory granule;IEA GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;IEA|GO:0008437;thyrotropin-releasing hormone activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRH https://hpo.jax.org/app/browse/search?q=TRH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613879 http://www.informatics.jax.org/searchtool/Search.do?query=TRH&submit=Quick%0D%12800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRH rs13065214 0.509585 0 0 1 0 0 intergenic intergenic intergenic TRH(dist=47984),ALG1L2(dist=55909) TRH(dist=47984),ALG1L2(dist=55909) ENSG00000180770(dist=3402),ENSG00000263767(dist=7536) Na Na Na Na Na Na Het;G>A 75;1|3 Ref Hom;G>A 98;0|4 N N - 3 137278900 137278900 A ATATC indel intergenic IL20RB Il20rb ENSG00000174564 interleukin 20 receptor subunit beta chr3:136665072-136729927 IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009] Psoriasis; Coronary Artery Disease; Sphingomyelins Mice homozygous for a knock-out allele display enhanced antigen-specific T cell responses. Mice homozygous for a reporter allele fail to exhibit epidermal hyperplasia in an interleukin-23 (IL-23)-dependent psoriasis mouse model. Interleukin-19,20,22,24,26,28 and 29 signaling GO:0001808;negative regulation of type IV hypersensitivity;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0002765;immune response-inhibiting signal transduction;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032689;negative regulation of interferon-gamma production;IEA|GO:0032703;negative regulation of interleukin-2 production;IEA|GO:0032733;positive regulation of interleukin-10 production;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0050863;regulation of T cell activation;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004920;interleukin-10 receptor activity;IBA|GO:0042015;interleukin-20 binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IL20RB https://www.ncbi.nlm.nih.gov/omim/?term=605621 http://www.informatics.jax.org/searchtool/Search.do?query=IL20RB&submit=Quick%0D%13544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL20RB rs141435145 0.437101 0 0 1 0 0 intergenic intergenic intergenic IL20RB(dist=548974),SOX14(dist=204234) 5S_rRNA(dist=41803),SOX14(dist=204234) ENSG00000243886(dist=23916),ENSG00000242070(dist=163716) Na Na Na Na Na Na Het;+TATC 216;13|7 Het;+TATC 642;2|17 Hom;+TATC 482;0|13 N N - 3 138173905 138173905 G A snp intronic ESYT3 Esyt3 ENSG00000158220 extended synaptotagmin 3 chr3:138153428-138200528 Mice are viable and fertile without overt morphological defects. Glycosphingolipid metabolism GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031227;intrinsic component of endoplasmic reticulum membrane;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0044232;organelle membrane contact site;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ESYT3 https://www.ncbi.nlm.nih.gov/omim/?term=616692 http://www.informatics.jax.org/searchtool/Search.do?query=ESYT3&submit=Quick%0D%10183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ESYT3 rs56236670 0.477037 0 0 1 0 0 intronic intronic intronic ESYT3 ESYT3 ENSG00000158220 Na Na Na Na Na Na Het;G>A 141;4|5 Het;G>A 110;2|4 Hom;G>A 160;0|5 N N - 3 138739617 138739617 A G snp UTR5 -114T>C PRR23B ENSG00000184814 proline rich 23B chr3:138737873-138739768 http://www.genecards.org/index.php?path=/Search/keyword/PRR23B http://www.informatics.jax.org/searchtool/Search.do?query=PRR23B&submit=Quick%0D%15277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR23B rs1720230 0.91853 0 0 1 0 0 UTR5 UTR5 UTR5 PRR23B(NM_001013650:c.-114T>C) PRR23B(uc003esy.1:c.-114T>C) ENSG00000184814(ENST00000329447:c.-114T>C) Na Na Na Na Na Na Het;A>G 114;5|4 Het;A>G 264;8|9 Hom;A>G 191;0|6 N N - 3 140167636 140167637 CA C indel intronic CLSTN2 Clstn2 ENSG00000158258 calsyntenin 2 chr3:139654027-140296239 Respiratory Function Tests; Memory Disorders|Prenatal Exposure Delayed Effects; Tobacco Use Disorder; Colitis, Ulcerative|Crohn Disease|; Socioeconomic Factors; Crohn Disease|Rectal Fistula; Schizophrenia; cognitive ability; smoking cessation; Hemoglobins; Death, Sudden, Cardiac; null; Inflammatory Bowel Diseases Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051965;positive regulation of synapse assembly;IEA GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLSTN2 https://www.ncbi.nlm.nih.gov/omim/?term=611323 http://www.informatics.jax.org/searchtool/Search.do?query=CLSTN2&submit=Quick%0D%10186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLSTN2 rs144791859 0.0790735 0 0 1 0 0 intronic intronic intronic CLSTN2 CLSTN2 ENSG00000158258 Na Na Na Na Na Na Het;-A 102;11|5 Het;-A 117;6|5 Hom;-A 188;0|6 N N - 3 142167976 142167976 A G snp upstream;downstream ENSG00000242479 rs10935463 0.3123 0 0 1 0 0 downstream downstream upstream;downstream ATR ATR ENSG00000242479;ENSG00000175054 Na Na Na Na Na Na Het;A>G 89;1|3 Ref Hom;A>G 100;0|3 N N - 3 142215123 142215136 TATATATATATATA T indel intronic ATR Atr ENSG00000175054 ATR serine/threonine kinase chr3:142168077-142297668 The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; myocardial infarction; Colonic Neoplasms|DNA Damage|Microsatellite Instability; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; Neoplasms; breast cancer ; esophageal adenocarcinoma; breast cancer; lung cancer ; breast cancer; ovarian cancer; lung cancer; Carcinoma, Endometrioid|Endometrial Neoplasms|Microsatellite Instability; epithelial ovarian cancer ; left ventricular hypertrophy; Cleft Lip|Cleft Palate; Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;IDA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007049;cell cycle;TAS|GO:0007275;multicellular organism development;TAS|GO:0008156;negative regulation of DNA replication;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0034644;cellular response to UV;IMP|GO:0036297;interstrand cross-link repair;TAS|GO:0042493;response to drug;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:0071480;cellular response to gamma radiation;IDA|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016605;PML body;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032405;MutLalpha complex binding;IDA|GO:0032407;MutSalpha complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATR https://hpo.jax.org/app/browse/search?q=ATR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601215 http://www.informatics.jax.org/searchtool/Search.do?query=ATR&submit=Quick%0D%13625ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATR rs201603669 0 0 0 1 0 0 intronic intronic intronic ATR ATR ENSG00000175054 Na Na Na Na Na Na Het;-ATATATATATATA 322;2|8 Ref Hom;-ATATATATATATA 669;0|13 N N - 3 142294310 142294313 CAAA C indel intronic ATR Atr ENSG00000175054 ATR serine/threonine kinase chr3:142168077-142297668 The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; myocardial infarction; Colonic Neoplasms|DNA Damage|Microsatellite Instability; Carcinoma, Pancreatic Ductal|DNA Damage|Pancreatic Neoplasms; Leukemia, Lymphocytic, Chronic, B-Cell; Neoplasms; breast cancer ; esophageal adenocarcinoma; breast cancer; lung cancer ; breast cancer; ovarian cancer; lung cancer; Carcinoma, Endometrioid|Endometrial Neoplasms|Microsatellite Instability; epithelial ovarian cancer ; left ventricular hypertrophy; Cleft Lip|Cleft Palate; Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;IDA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007049;cell cycle;TAS|GO:0007275;multicellular organism development;TAS|GO:0008156;negative regulation of DNA replication;IMP|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;ISS|GO:0034644;cellular response to UV;IMP|GO:0036297;interstrand cross-link repair;TAS|GO:0042493;response to drug;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:0071480;cellular response to gamma radiation;IDA|GO:0090399;replicative senescence;IMP|GO:0097694;establishment of RNA localization to telomere;IMP|GO:0097695;establishment of macromolecular complex localization to telomere;IC|GO:1900034;regulation of cellular response to heat;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904884;positive regulation of telomerase catalytic core complex assembly;IMP GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016605;PML body;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032405;MutLalpha complex binding;IDA|GO:0032407;MutSalpha complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATR https://hpo.jax.org/app/browse/search?q=ATR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601215 http://www.informatics.jax.org/searchtool/Search.do?query=ATR&submit=Quick%0D%13625ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATR rs200367806 0 0 0 1 0 0 intronic intronic intronic ATR ATR ENSG00000175054 Na Na Na Na Na Na Het;-AAA 200;4|6 Ref Hom;-AAA 184;0|6 N N - 3 142682874 142682874 G T snp upstream PAQR9 Paqr9 ENSG00000188582 progestin and adipoQ receptor family member 9 chr3:142668006-142682178 GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0048545;response to steroid hormone;IBA GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003707;steroid hormone receptor activity;IBA|GO:0005496;steroid binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PAQR9 https://www.ncbi.nlm.nih.gov/omim/?term=614580 http://www.informatics.jax.org/searchtool/Search.do?query=PAQR9&submit=Quick%0D%16061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAQR9 rs149346914 0.0263578 0 0 1 0 0 upstream upstream ncRNA_intronic PAQR9,PAQR9-AS1 PAQR9 ENSG00000241570 Na Na Na Na Na Na Het;G>T 55;7|4 Het;G>T 109;3|6 Hom;G>T 281;1|9 N N - 3 142839546 142839546 C T snp UTR5 -113C>T CHST2 Chst2 ENSG00000175040 carbohydrate sulfotransferase 2 chr3:142838173-142841800 This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011] Triglycerides; Chronic renal failure|Kidney Failure, Chronic; Hearing Loss; drug-related genes ; Nonalcoholic Fatty Liver Disease; Marijuana Abuse|Psychoses, Substance-Induced; Narcolepsy Mice homozygous for a knock-out allele display decreased lymphocyte binding to peripheral lymph node high endothelial venules, and significantly reduced lymphocyte homing to Peyer's patches, peripheral and mesenteric lymph nodes. Keratan sulfate biosynthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006790;sulfur compound metabolic process;IDA|GO:0006954;inflammatory response;TAS|GO:0007275;multicellular organism development;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031228;intrinsic component of Golgi membrane;NAS GO:0001517;N-acetylglucosamine 6-O-sulfotransferase activity;TAS|GO:0008146;sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHST2 https://www.ncbi.nlm.nih.gov/omim/?term=603798 http://www.informatics.jax.org/searchtool/Search.do?query=CHST2&submit=Quick%0D%13623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHST2 rs4149494 0.269569 0 0 1 0 0 UTR5 UTR5 UTR5 CHST2(NM_004267:c.-113C>T) CHST2(uc003evm.3:c.-113C>T) ENSG00000175040(ENST00000309575:c.-113C>T) Na Na Na Na Na Na Het;C>T 69;2|3 Ref Hom;C>T 124;0|4 N N - 3 143502226 143502226 A G snp intronic SLC9A9 Slc9a9 ENSG00000181804 solute carrier family 9 member A9 chr3:142984064-143567373 This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012] ADHD | attention-deficit hyperactivity disorder; Waist Circumference; Blood Pressure; ADHD; Tobacco Use Disorder; Lipoproteins; Diabetes Mellitus; Nonalcoholic Fatty Liver Disease; Glucose; tonometry; Carcinoma, Squamous Cell|Esophageal Neoplasms; Coronary Artery Disease; smoking; Socioeconomic Factors Mice homozygous for a null allele display abnormal social and olfactory behavior, abnormal CNS synaptic transmission, impaired synaptic vesicle exocytosis, impaired presynaptic calcium entry, and decreased synaptic vescile pH. Sodium/Proton exchangers GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006812;cation transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006885;regulation of pH;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IBA|GO:0098719;sodium ion import across plasma membrane;IBA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;TAS|GO:0055037;recycling endosome;IDA GO:0005515;protein binding;IPI|GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0015385;sodium:proton antiporter activity;TAS|GO:0015386;potassium:proton antiporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC9A9 https://www.ncbi.nlm.nih.gov/omim/?term=608396 http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A9&submit=Quick%0D%14675ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A9 rs12491888 0.661142 0 0 1 0 0 intronic intronic intronic SLC9A9 SLC9A9 ENSG00000181804 Na Na Na Na Na Na Het;A>G 42;3|2 Het;A>G 129;2|5 Hom;A>G 205;0|8 N N - 3 144658585 144658585 A G snp intergenic C3orf58 1190002N15Rik ENSG00000181744 chromosome 3 open reading frame 58 chr3:143690640-143767561 Echocardiography; Bilirubin; Respiratory Function Tests; Body Height; Tissue Plasminogen Activator; Lymphocytes; Blood Coagulation Factors; Neutrophils; Prostatic Neoplasms; Hip; Smoking; Cholesterol, LDL; Triglycerides GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0060038;cardiac muscle cell proliferation;IDA GO:0000139;Golgi membrane;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030137;COPI-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf58 https://www.ncbi.nlm.nih.gov/omim/?term=612200 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf58&submit=Quick%0D%14660ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf58 rs4308319 0.259784 0 0 1 0 0 intergenic intergenic intergenic C3orf58(dist=947375),PLOD2(dist=1128643) 5S_rRNA(dist=752723),PLOD2(dist=1128643) ENSG00000222778(dist=752723),ENSG00000244024(dist=582740) Na Na Na Na Na Na Het;A>G 47;2|2 Ref Hom;A>G 120;0|6 N N - 3 145458564 145458564 G A snp intergenic C3orf58 1190002N15Rik ENSG00000181744 chromosome 3 open reading frame 58 chr3:143690640-143767561 Echocardiography; Bilirubin; Respiratory Function Tests; Body Height; Tissue Plasminogen Activator; Lymphocytes; Blood Coagulation Factors; Neutrophils; Prostatic Neoplasms; Hip; Smoking; Cholesterol, LDL; Triglycerides GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0060038;cardiac muscle cell proliferation;IDA GO:0000139;Golgi membrane;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030137;COPI-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf58 https://www.ncbi.nlm.nih.gov/omim/?term=612200 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf58&submit=Quick%0D%14660ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf58 rs7653861 0.165935 0 0 1 0 0 intergenic intergenic intergenic C3orf58(dist=1747354),PLOD2(dist=328664) 5S_rRNA(dist=1552702),PLOD2(dist=328664) ENSG00000241695(dist=55685),ENSG00000239797(dist=83480) Na Na Na Na Na Na Het;G>A 105;6|5 Het;G>A 65;6|4 Hom;G>A 260;0|9 N N - 3 145508776 145508776 A G snp intergenic C3orf58 1190002N15Rik ENSG00000181744 chromosome 3 open reading frame 58 chr3:143690640-143767561 Echocardiography; Bilirubin; Respiratory Function Tests; Body Height; Tissue Plasminogen Activator; Lymphocytes; Blood Coagulation Factors; Neutrophils; Prostatic Neoplasms; Hip; Smoking; Cholesterol, LDL; Triglycerides GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0060038;cardiac muscle cell proliferation;IDA GO:0000139;Golgi membrane;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030137;COPI-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf58 https://www.ncbi.nlm.nih.gov/omim/?term=612200 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf58&submit=Quick%0D%14660ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf58 rs6440373 0.604433 0 0 1 0 0 intergenic intergenic intergenic C3orf58(dist=1797566),PLOD2(dist=278452) 5S_rRNA(dist=1602914),PLOD2(dist=278452) ENSG00000241695(dist=105897),ENSG00000239797(dist=33268) Na Na Na Na Na Na Het;A>G 53;2|4 Het;A>G 64;7|3 Hom;A>G 253;0|10 N N - 3 145508796 145508796 T A snp intergenic C3orf58 1190002N15Rik ENSG00000181744 chromosome 3 open reading frame 58 chr3:143690640-143767561 Echocardiography; Bilirubin; Respiratory Function Tests; Body Height; Tissue Plasminogen Activator; Lymphocytes; Blood Coagulation Factors; Neutrophils; Prostatic Neoplasms; Hip; Smoking; Cholesterol, LDL; Triglycerides GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0060038;cardiac muscle cell proliferation;IDA GO:0000139;Golgi membrane;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030137;COPI-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf58 https://www.ncbi.nlm.nih.gov/omim/?term=612200 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf58&submit=Quick%0D%14660ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf58 rs6440374 0.645168 0 0 1 0 0 intergenic intergenic intergenic C3orf58(dist=1797586),PLOD2(dist=278432) 5S_rRNA(dist=1602934),PLOD2(dist=278432) ENSG00000241695(dist=105917),ENSG00000239797(dist=33248) Na Na Na Na Na Na Het;T>A 134;2|4 Het;T>A 89;3|3 Hom;T>A 242;0|6 N N - 3 145508801 145508801 A C snp intergenic C3orf58 1190002N15Rik ENSG00000181744 chromosome 3 open reading frame 58 chr3:143690640-143767561 Echocardiography; Bilirubin; Respiratory Function Tests; Body Height; Tissue Plasminogen Activator; Lymphocytes; Blood Coagulation Factors; Neutrophils; Prostatic Neoplasms; Hip; Smoking; Cholesterol, LDL; Triglycerides GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0060038;cardiac muscle cell proliferation;IDA GO:0000139;Golgi membrane;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IEA|GO:0030126;COPI vesicle coat;IDA|GO:0030137;COPI-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf58 https://www.ncbi.nlm.nih.gov/omim/?term=612200 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf58&submit=Quick%0D%14660ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf58 rs6440375 0.605431 0 0 1 0 0 intergenic intergenic intergenic C3orf58(dist=1797591),PLOD2(dist=278427) 5S_rRNA(dist=1602939),PLOD2(dist=278427) ENSG00000241695(dist=105922),ENSG00000239797(dist=33243) Na Na Na Na Na Na Het;A>C 134;2|4 Het;A>C 89;3|3 Hom;A>C 242;0|6 N N - 3 146128467 146128467 A G snp ncRNA_intronic AC069528.1 rs6801846 0.646965 0 0 1 0 0 intergenic intergenic ncRNA_intronic PLSCR4(dist=159501),PLSCR2(dist=22608) PLSCR4(dist=159501),PLSCR2(dist=22608) ENSG00000241358 Na Na Na Na Na Na Het;A>G 112;6|5 Ref Hom;A>G 107;0|4 N N - 3 14706770 14706770 A ATTGG indel intronic CCDC174 Ccdc174 ENSG00000154781 coiled-coil domain containing 174 chr3:14693271-14714166 The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016] Cholesterol; Respiratory Function Tests; Tobacco Use Disorder Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC174 https://www.uniprot.org/uniprot/Q6PII3 https://hpo.jax.org/app/browse/search?q=CCDC174&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616735 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC174&submit=Quick%0D%9807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC174 rs3836383 0 0 0 1 0 0 intronic intronic intronic CCDC174 CCDC174 ENSG00000154781 Na Na Na Na Na Na Het;+TTGG 61;4|3 Ref Hom;+TTGG 233;0|6 N N - 3 147121751 147121751 C T snp synonymous SNV G135A K45K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZIC4 Zic4 ENSG00000174963 Zic family member 4 chr3:147103833-147124647 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009] Isolated Dandy-Walker malformation without hydrocephalus Mice heterozygous for a knock-out allele exhibit posterior cerebellar hypoplasia and a mild defect in anterior cerebellar foliation. GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZIC4 https://www.ncbi.nlm.nih.gov/omim/?term=608948 http://www.informatics.jax.org/searchtool/Search.do?query=ZIC4&submit=Quick%0D%13613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZIC4 rs6766244 0.142572 0 0.1714 1 0 0 exonic exonic exonic ZIC4 ZIC4 ENSG00000174963 synonymous SNV synonymous SNV unknown ZIC4:NM_001168378:exon1:c.G135A:p.K45K, ZIC4:uc011bno.2:exon1:c.G135A:p.K45K, UNKNOWN Het;C>T 659;38|26 Het;C>T 973;57|42 Hom;C>T 1822;0|63 N N - 3 14731808 14731808 C T snp intronic C3orf20 4930590J08Rik ENSG00000131379 chromosome 3 open reading frame 20 chr3:14716606-14814541 Parkinson Disease; Tobacco Use Disorder GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf20 https://www.uniprot.org/uniprot/Q8ND61 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf20&submit=Quick%0D%6532ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf20 rs1432601 0.314097 0 0 1 0 0 intronic intronic intronic C3orf20 C3orf20 ENSG00000131379 Na Na Na Na Na Na Het;C>T 124;5|5 Het;C>T 498;2|16 Hom;C>T 122;0|4 N N - 3 148885077 148885077 C T snp intronic HPS3 Hps3 ENSG00000163755 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 chr3:148847371-148891519 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] Hermansky-Pudlak syndrome; Hermanski-Pudlak Syndrome Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect. GO:0006996;organelle organization;IEA|GO:0043473;pigmentation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS3 https://hpo.jax.org/app/browse/search?q=HPS3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606118 http://www.informatics.jax.org/searchtool/Search.do?query=HPS3&submit=Quick%0D%11082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS3 rs2681092 0.479633 0.4656 0.4716 1 0 0 intronic intronic intronic HPS3 HPS3 ENSG00000047457,ENSG00000163755 Na Na Na Na Na Na Het;C>T 956;15|25 Het;C>T 1047;2|26 Hom;C>T 1748;0|49 N N - 3 150285520 150285520 T C snp synonymous SNV T516C D172D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) EIF2A Eif2a ENSG00000144895 eukaryotic translation initiation factor 2A chr3:150264465-150302029 This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele are viable and fertile with no visible phenotypes. GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006417;regulation of translation;IEA|GO:0006468;protein phosphorylation;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032933;SREBP signaling pathway;IEA|GO:0042255;ribosome assembly;IMP|GO:1990928;response to amino acid starvation;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005850;eukaryotic translation initiation factor 2 complex;IDA|GO:0022627;cytosolic small ribosomal subunit;IBA|GO:0072562;blood microparticle;IDA GO:0000049;tRNA binding;IMP|GO:0003729;mRNA binding;IBA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;IMP|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EIF2A https://www.uniprot.org/uniprot/Q9BY44 https://www.ncbi.nlm.nih.gov/omim/?term=609234 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2A&submit=Quick%0D%8680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2A rs2293151 0.119209 0.1506 0.1822 1 0 0 exonic exonic exonic EIF2A EIF2A ENSG00000144895 synonymous SNV synonymous SNV unknown EIF2A:NM_032025:exon7:c.T516C:p.D172D, EIF2A:uc011bnw.2:exon5:c.T333C:p.D111D,EIF2A:uc011bnv.2:exon6:c.T441C:p.D147D,EIF2A:uc003eya.3:exon7:c.T516C:p.D172D,EIF2A:uc003eyb.3:exon7:c.T135C:p.D45D,EIF2A:uc003eyc.3:exon7:c.T135C:p.D45D, UNKNOWN Het;T>C 1091;48|50 Het;T>C 1032;49|49 Hom;T>C 3263;0|118 N N - 3 150285664 150285664 A G snp ncRNA_intronic BC039424 rs2293150 0.10643 0.1456 0.1346 1 0 0 intronic ncRNA_intronic intronic EIF2A BC039424 ENSG00000120742,ENSG00000144895 Na Na Na Na Na Na Het;A>G 1619;67|66 Het;A>G 1101;67|47 Hom;A>G 4458;0|148 N N - 3 150286210 150286210 A T snp ncRNA_intronic BC039424 rs1915945 0.119209 0 0 1 0 0 intronic ncRNA_intronic intronic EIF2A BC039424 ENSG00000120742,ENSG00000144895 Na Na Na Na Na Na Het;A>T 95;2|4 Ref Hom;A>T 110;0|5 N N - 3 150329681 150329681 G A snp intronic SELT Selt rs112711134 0.076877 0 0 1 0 0 intronic intronic intronic SELT SELT ENSG00000198843 Na Na Na Na Na Na Het;G>A 110;7|6 Ref Hom;G>A 148;0|6 N N - 3 150916131 150916131 T TG indel UTR3 *83A>CA GPR171 Gpr171 ENSG00000174946 G protein-coupled receptor 171 chr3:150915619-150920988 GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035589;G-protein coupled purinergic nucleotide receptor signaling pathway;IEA|GO:0045638;negative regulation of myeloid cell differentiation;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0045028;G-protein coupled purinergic nucleotide receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/GPR171 http://www.informatics.jax.org/searchtool/Search.do?query=GPR171&submit=Quick%0D%13608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR171 rs61332153 0.263978 0 0 1 0 0 UTR3 UTR3 UTR3 GPR171(NM_013308:c.*83A>CA) GPR171(uc003eyq.4:c.*83A>CA) ENSG00000174946(ENST00000309180:c.*83A>CA) Na Na Na Na Na Na Het;+G 233;5|12 Ref Hom;+G 267;0|6 N N - 3 151397191 151397191 A G snp ncRNA_intronic MIR548H2 rs4679914 0.721645 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic MIR548H2 MIR548H2 ENSG00000241151(dist=21437),ENSG00000197953(dist=54513) Na Na Na Na Na Na Het;A>G 82;2|3 Het;A>G 82;3|3 Hom;A>G 290;0|10 N N - 3 152427270 152427270 A C snp intergenic MBNL1 Mbnl1 ENSG00000152601 muscleblind like splicing regulator 1 chr3:151961617-152183569 This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015] Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects. GO:0001701;in utero embryonic development;ISS|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;ISS|GO:0008380;RNA splicing;IDA|GO:0030326;embryonic limb morphogenesis;ISS|GO:0043484;regulation of RNA splicing;IDA|GO:0045445;myoblast differentiation;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0010494;cytoplasmic stress granule;IDA GO:0001069;regulatory region RNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MBNL1 https://www.uniprot.org/uniprot/Q9NR56 https://www.ncbi.nlm.nih.gov/omim/?term=606516 http://www.informatics.jax.org/searchtool/Search.do?query=MBNL1&submit=Quick%0D%9573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBNL1 rs4680000 0.583466 0 0 1 0 0 intergenic intergenic intergenic MBNL1(dist=243701),P2RY1(dist=125466) MBNL1(dist=243701),P2RY1(dist=125466) ENSG00000244545(dist=59034),ENSG00000242561(dist=90953) Na Na Na Na Na Na Het;A>C 246;22|10 Het;A>C 112;11|4 Hom;A>C 1285;0|29 N N - 3 153742983 153742983 T C snp ncRNA_exonic ARHGEF26-AS1 rs1060651 0.40595 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;T>C 1101;30|45 Het;T>C 1816;89|80 Hom;T>C 5307;4|184 N N - 3 153743109 153743109 A G snp ncRNA_exonic ARHGEF26-AS1 rs1060650 0.401558 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;A>G 1289;34|55 Het;A>G 3544;89|93 Hom;A>G 6328;1|226 N N - 3 153743125 153743125 T C snp ncRNA_exonic ARHGEF26-AS1 rs1060649 0.40655 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;T>C 1291;36|52 Het;T>C 3646;89|97 Hom;T>C 6132;1|211 N N - 3 153743620 153743620 A C snp ncRNA_exonic ARHGEF26-AS1 rs9839828 0.40655 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;A>C 470;15|18 Het;A>C 555;18|25 Hom;A>C 1212;0|40 N N - 3 153743842 153743842 C T snp ncRNA_exonic ARHGEF26-AS1 rs9878030 0.40635 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;C>T 773;17|31 Het;C>T 1172;64|51 Hom;C>T 2698;1|99 N N - 3 153743950 153743950 C T snp ncRNA_exonic ARHGEF26-AS1 rs9882021 0.40615 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;C>T 314;16|13 Het;C>T 540;59|28 Hom;C>T 1887;1|64 N N - 3 153744207 153744207 T C snp ncRNA_exonic ARHGEF26-AS1 rs9827003 0.40615 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ARHGEF26-AS1 ARHGEF26-AS1 ENSG00000243069 Na Na Na Na Na Na Het;T>C 439;36|23 Het;T>C 644;50|27 Hom;T>C 2941;2|111 N N - 3 154857897 154857897 C T snp intronic MME Mme ENSG00000196549 membrane metalloendopeptidase chr3:154741913-154901497 This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008] Precursor Cell Lymphoblastic Leukemia-Lymphoma; cerebral amyloid angiopathy.; anxiety; Alzheimer's disease; low amplitude P300 waves; Alzheimer's disease ; atherosclerosis; Bulimia; Cardiovascular Diseases; Body Height; attention deficit disorder conduct disorder oppositional defiant disorder; null; Alzheimer's Disease Mice homozygous for a knock-out allele exhibit enhanced allergic contact dermatitis responses, diffuse hepatic necrosis after LPS shock or treatment with a combination of TNF and interleukin-1 beta, and increased brain and plasma amyloid beta peptide levels. Neutrophil degranulation GO:0001822;kidney development;IEP|GO:0002003;angiotensin maturation;TAS|GO:0006508;proteolysis;IDA|GO:0006518;peptide metabolic process;ISS|GO:0019233;sensory perception of pain;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0046449;creatinine metabolic process;IMP|GO:0050435;beta-amyloid metabolic process;ISS|GO:0071345;cellular response to cytokine stimulus;IDA|GO:0071492;cellular response to UV-A;IDA|GO:0071493;cellular response to UV-B;IDA|GO:0090399;replicative senescence;IEP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IDA|GO:0005925;focal adhesion;IDA|GO:0008021;synaptic vesicle;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0030667;secretory granule membrane;TAS|GO:0044306;neuron projection terminus;ISS|GO:0045202;synapse;ISS|GO:0070062;extracellular exosome;IDA GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008238;exopeptidase activity;IDA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MME https://hpo.jax.org/app/browse/search?q=MME&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120520 http://www.informatics.jax.org/searchtool/Search.do?query=MME&submit=Quick%0D%16398ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MME rs10935999 0.048123 0 0 1 0 0 intronic intronic intronic MME MME ENSG00000196549 Na Na Na Na Na Na Het;C>T 117;11|5 Het;C>T 112;2|4 Hom;C>T 253;0|8 N N - 3 157295937 157295937 C CT indel intronic PQLC2L rs11412238 0.598642 0 0 1 0 0 intronic intronic intronic PQLC2L C3orf55 ENSG00000174899 Na Na Na Na Na Na Het;+T 291;2|14 Ref Hom;+T 169;0|9 N N - 3 157318257 157318257 C T snp UTR3 *170C>T PQLC2L rs4395360 0.565495 0 0 1 0 0 UTR3 UTR3 UTR3 PQLC2L(NM_001130002:c.*170C>T,NM_001130001:c.*87C>T) C3orf55(uc003fbp.4:c.*170C>T,uc010hvv.3:c.*87C>T) ENSG00000174899(ENST00000449199:c.*170C>T,ENST00000426338:c.*87C>T) Na Na Na Na Na Na Het;C>T 101;4|4 Het;C>T 61;4|3 Hom;C>T 272;0|8 N N - 3 157516323 157516323 C CT indel intergenic PQLC2L rs11435307 0.364417 0 0 1 0 0 intergenic intergenic intergenic PQLC2L(dist=197302),SHOX2(dist=297477) C3orf55(dist=197302),7SK(dist=131958) ENSG00000174899(dist=120785),ENSG00000251751(dist=131958) Na Na Na Na Na Na Het;+T 253;3|13 Het;+T 235;12|16 Hom;+T 918;2|41 N N - 3 158314846 158314846 A G snp intronic MLF1 Mlf1 ENSG00000178053 myeloid leukemia factor 1 chr3:158288952-158325041 This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction Mice homozygous for a null allele exhibit a slight increased B cells in the spleen and decreased ex vivo thymocyte apoptosis susceptibility. GO:0002318;myeloid progenitor cell differentiation;ISS|GO:0006351;transcription, DNA-templated;ISS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MLF1 https://hpo.jax.org/app/browse/search?q=MLF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601402 http://www.informatics.jax.org/searchtool/Search.do?query=MLF1&submit=Quick%0D%14127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MLF1 rs55999561 0.322284 0 0 1 0 0 intronic intronic intronic MLF1 MLF1 ENSG00000178053 Na Na Na Na Na Na Het;A>G 80;2|3 Ref Hom;A>G 135;0|4 N N - 3 158449965 158449965 T C snp synonymous SNV A240G L80L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RARRES1 Rarres1 ENSG00000118849 retinoic acid receptor responder 1 chr3:158414681-158450485 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] kidney aging GO:0008285;negative regulation of cell proliferation;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/RARRES1 https://www.uniprot.org/uniprot/P49788 https://www.ncbi.nlm.nih.gov/omim/?term=605090 http://www.informatics.jax.org/searchtool/Search.do?query=RARRES1&submit=Quick%0D%5012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RARRES1 rs6441223 0.428315 0 0.5289 1 0 0 exonic exonic exonic RARRES1 RARRES1 ENSG00000118849 synonymous SNV synonymous SNV unknown RARRES1:NM_206963:exon1:c.A240G:p.L80L,RARRES1:NM_002888:exon1:c.A240G:p.L80L, RARRES1:uc003fcj.3:exon1:c.A240G:p.L80L,RARRES1:uc003fci.3:exon1:c.A240G:p.L80L, UNKNOWN Het;T>C 341;11|15 Het;T>C 223;15|11 Hom;T>C 710;0|26 N N - 3 158450178 158450178 A G snp synonymous SNV T27C P9P hydrophobic,neutral hydrophobic,neutral RARRES1 Rarres1 ENSG00000118849 retinoic acid receptor responder 1 chr3:158414681-158450485 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] kidney aging GO:0008285;negative regulation of cell proliferation;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/RARRES1 https://www.uniprot.org/uniprot/P49788 https://www.ncbi.nlm.nih.gov/omim/?term=605090 http://www.informatics.jax.org/searchtool/Search.do?query=RARRES1&submit=Quick%0D%5012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RARRES1 rs6786423 0.402157 0 0.3888 1 0 0 exonic exonic exonic RARRES1 RARRES1 ENSG00000118849 synonymous SNV synonymous SNV unknown RARRES1:NM_206963:exon1:c.T27C:p.P9P,RARRES1:NM_002888:exon1:c.T27C:p.P9P, RARRES1:uc003fcj.3:exon1:c.T27C:p.P9P,RARRES1:uc003fci.3:exon1:c.T27C:p.P9P, UNKNOWN Het;A>G 936;29|26 Het;A>G 910;24|25 Hom;A>G 1658;0|47 N N - 3 158970714 158970714 T C snp intronic IQCJ Iqcj ENSG00000214216 IQ motif containing J chr3:158680717-158984096 http://www.genecards.org/index.php?path=/Search/keyword/IQCJ https://www.ncbi.nlm.nih.gov/omim/?term=611622 http://www.informatics.jax.org/searchtool/Search.do?query=IQCJ&submit=Quick%0D%18224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCJ rs1020470 0.530551 0 0 1 0 0 intronic intronic intronic IQCJ,IQCJ-SCHIP1 IQCJ,IQCJ-SCHIP1 ENSG00000214216,ENSG00000250588 Na Na Na Na Na Na Het;T>C 157;6|5 Het;T>C 121;4|4 Hom;T>C 350;0|9 N N - 3 158980279 158980279 A G snp intronic IQCJ Iqcj ENSG00000214216 IQ motif containing J chr3:158680717-158984096 http://www.genecards.org/index.php?path=/Search/keyword/IQCJ https://www.ncbi.nlm.nih.gov/omim/?term=611622 http://www.informatics.jax.org/searchtool/Search.do?query=IQCJ&submit=Quick%0D%18224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCJ rs1449007 0.56889 0 0 1 0 0 intronic intronic intronic IQCJ,IQCJ-SCHIP1 IQCJ,IQCJ-SCHIP1 ENSG00000214216,ENSG00000250588 Na Na Na Na Na Na Het;A>G 538;29|19 Het;A>G 127;25|8 Hom;A>G 1227;1|43 N N - 3 158991724 158991724 A T snp intronic IQCJ-SCHIP1 Gm21949 ENSG00000283154 IQCJ-SCHIP1 readthrough chr3:158680024-159615155 This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010] GO:0008150;biological_process;ND GO:0005737;cytoplasm;TAS GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQCJ-SCHIP1 https://www.uniprot.org/uniprot/Q9P0W5 http://www.informatics.jax.org/searchtool/Search.do?query=IQCJ-SCHIP1&submit=Quick%0D%22699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCJ-SCHIP1 rs2621285 0.570088 0.7049 0.6686 1 0 0 intronic intronic intronic IQCJ-SCHIP1,SCHIP1 IQCJ-SCHIP1,SCHIP1 ENSG00000250588 Na Na Na Na Na Na Het;A>T 413;21|20 Het;A>T 563;26|27 Hom;A>T 1233;0|48 N N - 3 159486139 159486139 A G snp ncRNA_exonic IQCJ-SCHIP1-AS1 rs13075534 0.120607 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic IQCJ-SCHIP1-AS1 IQCJ-SCHIP1,SCHIP1 ENSG00000241211 Na Na Na Na Na Na Het;A>G 1301;36|48 Het;A>G 1164;50|49 Hom;A>G 3179;0|111 N N - 3 159557953 159557953 T C snp UTR5 -21T>C SCHIP1 Schip1 ENSG00000151967 schwannomin interacting protein 1 chr3:159557650-159615149 Exercise Test; quantitative traits; Echocardiography; Eosinophils; Blood Cells; Celiac disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Waist Circumference Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects and defective cell mirgration. GO:0008150;biological_process;ND GO:0005737;cytoplasm;TAS GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SCHIP1 https://www.uniprot.org/uniprot/Q9P0W5 http://www.informatics.jax.org/searchtool/Search.do?query=SCHIP1&submit=Quick%0D%9494ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCHIP1 rs13064339 0.096845 0 0.1578 1 0 0 UTR5 UTR5 UTR5 SCHIP1(NM_001197109:c.-21T>C) SCHIP1(uc003fcu.2:c.-21T>C) ENSG00000151967(ENST00000445224:c.-21T>C,ENST00000495954:c.-21T>C) Na Na Na Na Na Na Het;T>C 700;25|29 Het;T>C 432;23|21 Hom;T>C 1096;0|43 N N - 3 159924899 159924899 A T snp upstream AK097161 rs3920771 0.332268 0 0 1 0 0 upstream upstream ncRNA_intronic IL12A-AS1 AK097161 ENSG00000244040 Na Na Na Na Na Na Het;A>T 963;41|44 Het;A>T 949;41|40 Hom;A>T 2595;0|92 N N - 3 161144525 161144525 T TA indel ncRNA_exonic LOC101243545 rs201076710 0.287141 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101243545 LOC101243545 ENSG00000240567 Na Na Na Na Na Na Het;+A 892;51|58 Het;+A 798;43|49 Hom;+A 2229;15|109 N N - 3 162071771 162071771 T G snp intergenic OTOL1 Otol1 ENSG00000182447 otolin 1 chr3:161214596-161221730 Attention Deficit Disorder with Hyperactivity; Behavior; Subcutaneous Fat; Cholesterol, HDL; Hemoglobin A, Glycosylated; Glucose; Body Weights and Measures; Body Weight Changes; Cholesterol; Respiratory Function Tests; Intra-Abdominal Fat; Frontal Lobe GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOL1 http://www.informatics.jax.org/searchtool/Search.do?query=OTOL1&submit=Quick%0D%14790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOL1 rs9811154 0.444888 0 0 1 0 0 intergenic intergenic intergenic OTOL1(dist=850041),LINC01192(dist=823260) OTOL1(dist=850041),BC073807(dist=370756) ENSG00000240354(dist=532075),ENSG00000241874(dist=132558) Na Na Na Na Na Na Het;T>G 118;3|7 Het;T>G 282;15|13 Hom;T>G 601;0|22 N N - 3 162219685 162219693 AGATTGATT A indel intergenic OTOL1 Otol1 ENSG00000182447 otolin 1 chr3:161214596-161221730 Attention Deficit Disorder with Hyperactivity; Behavior; Subcutaneous Fat; Cholesterol, HDL; Hemoglobin A, Glycosylated; Glucose; Body Weights and Measures; Body Weight Changes; Cholesterol; Respiratory Function Tests; Intra-Abdominal Fat; Frontal Lobe GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOL1 http://www.informatics.jax.org/searchtool/Search.do?query=OTOL1&submit=Quick%0D%14790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOL1 rs150370538 0 0 0 1 0 0 intergenic intergenic intergenic OTOL1(dist=997955),LINC01192(dist=675338) OTOL1(dist=997955),BC073807(dist=222834) ENSG00000241874(dist=14948),ENSG00000243044(dist=99722) Na Na Na Na Na Na Het;-GATTGATT 86;1|3 Ref Hom;-GATTGATT 323;0|8 N N - 3 162271618 162271618 G T snp intergenic OTOL1 Otol1 ENSG00000182447 otolin 1 chr3:161214596-161221730 Attention Deficit Disorder with Hyperactivity; Behavior; Subcutaneous Fat; Cholesterol, HDL; Hemoglobin A, Glycosylated; Glucose; Body Weights and Measures; Body Weight Changes; Cholesterol; Respiratory Function Tests; Intra-Abdominal Fat; Frontal Lobe GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOL1 http://www.informatics.jax.org/searchtool/Search.do?query=OTOL1&submit=Quick%0D%14790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOL1 rs1478133 0.51258 0 0 1 0 0 intergenic intergenic intergenic OTOL1(dist=1049888),LINC01192(dist=623413) OTOL1(dist=1049888),BC073807(dist=170909) ENSG00000241874(dist=66881),ENSG00000243044(dist=47797) Na Na Na Na Na Na Het;G>T 63;6|3 Ref Hom;G>T 138;0|5 N N - 3 162271702 162271702 T C snp intergenic OTOL1 Otol1 ENSG00000182447 otolin 1 chr3:161214596-161221730 Attention Deficit Disorder with Hyperactivity; Behavior; Subcutaneous Fat; Cholesterol, HDL; Hemoglobin A, Glycosylated; Glucose; Body Weights and Measures; Body Weight Changes; Cholesterol; Respiratory Function Tests; Intra-Abdominal Fat; Frontal Lobe GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOL1 http://www.informatics.jax.org/searchtool/Search.do?query=OTOL1&submit=Quick%0D%14790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOL1 rs2086088 0.574281 0 0 1 0 0 intergenic intergenic intergenic OTOL1(dist=1049972),LINC01192(dist=623329) OTOL1(dist=1049972),BC073807(dist=170825) ENSG00000241874(dist=66965),ENSG00000243044(dist=47713) Na Na Na Na Na Na Het;T>C 437;22|20 Het;T>C 260;4|13 Hom;T>C 853;0|31 N N - 3 162771666 162771666 A T snp ncRNA_intronic BC073807 rs4858905 0.836262 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic OTOL1(dist=1549936),LINC01192(dist=123365) BC073807 ENSG00000241168 Na Na Na Na Na Na Het;A>T 65;11|3 Ref Hom;A>T 554;0|12 N N - 3 162771685 162771685 C T snp ncRNA_intronic BC073807 rs4858906 0.886382 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic OTOL1(dist=1549955),LINC01192(dist=123346) BC073807 ENSG00000241168 Na Na Na Na Na Na Het;C>T 178;13|8 Ref Hom;C>T 603;0|15 N N - 3 162771733 162771733 G C snp ncRNA_intronic BC073807 rs4858917 0.836062 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic OTOL1(dist=1550003),LINC01192(dist=123298) BC073807 ENSG00000241168 Na Na Na Na Na Na Het;G>C 420;27|19 Het;G>C 160;19|9 Hom;G>C 1375;0|52 N N - 3 162771907 162771907 G A snp ncRNA_intronic BC073807 rs7617459 0.84405 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic OTOL1(dist=1550177),LINC01192(dist=123124) BC073807 ENSG00000241168 Na Na Na Na Na Na Het;G>A 248;12|10 Het;G>A 405;3|17 Hom;G>A 837;0|29 N N - 3 162954568 162954568 G A snp ncRNA_intronic CT64 rs4855295 0.893171 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01192 CT64 ENSG00000241369 Na Na Na Na Na Na Het;G>A 621;22|28 Het;G>A 664;16|30 Hom;G>A 1301;0|45 N N - 3 162996196 162996196 T C snp ncRNA_intronic CT64 rs4855249 0.884984 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01192 CT64 ENSG00000241369 Na Na Na Na Na Na Het;T>C 109;5|4 Het;T>C 107;5|4 Hom;T>C 305;0|8 N N - 3 164239383 164239383 A G snp intergenic MIR1263 rs2089989 0.632188 0 0 1 0 0 intergenic intergenic intergenic MIR1263(dist=350039),LINC01324(dist=192500) CT64(dist=1218294),SI(dist=457303) ENSG00000221755(dist=180145),ENSG00000241636(dist=149283) Na Na Na Na Na Na Het;A>G 356;26|18 Het;A>G 233;31|12 Hom;A>G 1937;0|70 N N - 3 164239539 164239539 T C snp intergenic MIR1263 rs6771727 0.632388 0 0 1 0 0 intergenic intergenic intergenic MIR1263(dist=350195),LINC01324(dist=192344) CT64(dist=1218450),SI(dist=457147) ENSG00000221755(dist=180301),ENSG00000241636(dist=149127) Na Na Na Na Na Na Het;T>C 158;9|7 Het;T>C 84;11|5 Hom;T>C 413;0|14 N N - 3 165281103 165281103 T C snp ncRNA_intronic LINC01322 rs10804815 0.519569 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC01322(dist=49587),BCHE(dist=209589) SLITRK3(dist=366634),BCHE(dist=209589) ENSG00000244128 Na Na Na Na Na Na Het;T>C 301;22|18 Het;T>C 279;16|14 Hom;T>C 765;0|28 N N - 3 165331691 165331691 G C snp ncRNA_intronic LINC01322 rs34712234 0.0816693 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC01322(dist=100175),BCHE(dist=159001) SLITRK3(dist=417222),BCHE(dist=159001) ENSG00000244128 Na Na Na Na Na Na Het;G>C 156;3|5 Het;G>C 184;6|6 Hom;G>C 216;0|6 N N - 3 166005307 166005308 CA C indel intergenic BCHE Bche ENSG00000114200 butyrylcholinesterase chr3:165490692-165555260 This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016] cholinesterase activity; Alzheimer's disease; metabolic syndrome; Alzheimer Disease|Alzheimer's Disease; post-succinylcholine apnea; coronary artery disease; null; Hyperhomocysteinemia|Lewy Body Disease|Psychomotor Disorders; Waist Circumference; Alzheimer's disease ; Perioperative genomic profiles ; Alzheimer's Disease; atherosclerosis, coronary; apnea, post-succinylcholine; Kidney Failure, Chronic; Dementia; butyrylcholinesterase activity; diabetes, type 2; Lewy Body Disease; body mass; diabetes, type 2; glucose tolerance; insulin; Coronary Artery Disease; Weight Gain; Alzheimer's disease drug hypersensitivity; Obesity; BCHE serum levels; organophosphate toxicity; body mass; height; weight; Tobacco Use Disorder; childhood brain tumors | residential insecticide exposure; late-onset AD; Type 2 Diabetes| edema | rosiglitazone; Paralysis; muscle testing; Alzheimer`s Disease; pharmacogenetic studies; Waist-Hip Ratio; neuropathy, Alzheimer's disease related; monocyte chemoattractant protein 1 (66-77); Cerebral Amyloid Angiopathy (CAA); dementia; Butyrylcholinesterase Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities. Synthesis, secretion, and deacylation of Ghrelin GO:0007584;response to nutrient;IEA|GO:0007612;learning;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0014016;neuroblast differentiation;IEA|GO:0019695;choline metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0043279;response to alkaloid;IEA|GO:0050783;cocaine metabolic process;TAS|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051593;response to folic acid;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005641;nuclear envelope lumen;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0072562;blood microparticle;IDA GO:0001540;beta-amyloid binding;NAS|GO:0003824;catalytic activity;NAS|GO:0003990;acetylcholinesterase activity;IEA|GO:0004104;cholinesterase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;TAS|GO:0019899;enzyme binding;NAS|GO:0033265;choline binding;IEA|GO:0042802;identical protein binding;IPI|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCHE https://www.uniprot.org/uniprot/P06276 https://www.ncbi.nlm.nih.gov/omim/?term=177400 http://www.informatics.jax.org/searchtool/Search.do?query=BCHE&submit=Quick%0D%4441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCHE rs527971888 0.560304 0 0 1 0 0 intergenic intergenic intergenic BCHE(dist=450054),ZBBX(dist=952769) BCHE(dist=450054),7SK(dist=382509) ENSG00000242326(dist=105699),ENSG00000244429(dist=6236) Na Na Na Na Na Na Het;-A 270;9|19 Het;-A 166;13|12 Hom;-A 398;3|22 N N - 3 169244930 169244930 G T snp intronic MECOM Mecom ENSG00000085276 MDS1 and EVI1 complex locus chr3:168801287-169381406 The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Heart Failure; Blood Pressure; Hematocrit; Nasopharyngeal Neoplasms; Respiratory Function Tests; Hip; Amyotrophic Lateral Sclerosis; Magnesium; Cleft Lip|Cleft Palate; Body Weights and Measures; Tobacco Use Disorder; Hemoglobins Embryos homozygous for a targeted null mutation die at 10.5 dpc displaying widespread hypocellularity, hemorrhage, and disruption in the development of the heart, somites, and neural crest-derived cells. Regulation of PTEN gene transcription GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0043069;negative regulation of programmed cell death;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046329;negative regulation of JNK cascade;IMP|GO:0051726;regulation of cell cycle;IDA|GO:0071425;hematopoietic stem cell proliferation;ISS GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MECOM https://www.uniprot.org/uniprot/Q03112 https://hpo.jax.org/app/browse/search?q=MECOM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165215 http://www.informatics.jax.org/searchtool/Search.do?query=MECOM&submit=Quick%0D%1882ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MECOM rs6444858 0.511382 0 0 1 0 0 intronic intronic intronic MECOM MECOM ENSG00000085276 Na Na Na Na Na Na Het;G>T 188;5|9 Het;G>T 139;7|7 Hom;G>T 210;0|9 N N - 3 169381024 169381024 C A snp intronic MECOM Mecom ENSG00000085276 MDS1 and EVI1 complex locus chr3:168801287-169381406 The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Heart Failure; Blood Pressure; Hematocrit; Nasopharyngeal Neoplasms; Respiratory Function Tests; Hip; Amyotrophic Lateral Sclerosis; Magnesium; Cleft Lip|Cleft Palate; Body Weights and Measures; Tobacco Use Disorder; Hemoglobins Embryos homozygous for a targeted null mutation die at 10.5 dpc displaying widespread hypocellularity, hemorrhage, and disruption in the development of the heart, somites, and neural crest-derived cells. Regulation of PTEN gene transcription GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0043069;negative regulation of programmed cell death;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046329;negative regulation of JNK cascade;IMP|GO:0051726;regulation of cell cycle;IDA|GO:0071425;hematopoietic stem cell proliferation;ISS GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MECOM https://www.uniprot.org/uniprot/Q03112 https://hpo.jax.org/app/browse/search?q=MECOM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165215 http://www.informatics.jax.org/searchtool/Search.do?query=MECOM&submit=Quick%0D%1882ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MECOM rs140833063 0.0115815 0 0 1 0 0 intronic intronic intronic MECOM MECOM ENSG00000085276 Na Na Na Na Na Na Het;C>A 427;7|14 Het;C>A 157;1|6 Hom;C>A 232;0|9 N N - 3 171242076 171242076 A ACTGCTG indel intergenic TNIK Tnik ENSG00000154310 TRAF2 and NCK interacting kinase chr3:170779128-171178197 Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008] Brain imaging in schizophrenia (interaction); Cell Adhesion Molecules; schizophrenia; Hemoglobins; Tobacco Use Disorder; Schizophrenia; Cholesterol, HDL; Coronary Disease Mice homozygous for a knock-out allele exhibit impaired postsynaptic signaling and cognitive function. Oxidative Stress Induced Senescence GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006468;protein phosphorylation;IDA|GO:0007010;cytoskeleton organization;IMP|GO:0007256;activation of JNKK activity;IDA|GO:0007399;nervous system development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0030033;microvillus assembly;IMP|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048814;regulation of dendrite morphogenesis;IDA|GO:0072659;protein localization to plasma membrane;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IDA|GO:0016324;apical plasma membrane;IDA|GO:0055037;recycling endosome;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNIK https://www.uniprot.org/uniprot/Q9UKE5 https://hpo.jax.org/app/browse/search?q=TNIK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610005 http://www.informatics.jax.org/searchtool/Search.do?query=TNIK&submit=Quick%0D%9758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNIK rs755994202 0 0 0 1 0 0 intergenic intergenic intergenic TNIK(dist=63879),PLD1(dist=76119) TNIK(dist=63879),PLD1(dist=76119) ENSG00000207114(dist=19936),ENSG00000234594(dist=10136) Na Na Na Na Na Na Het;+CTGCTG 373;3|10 Ref Hom;+CTGCTG 187;0|5 N N - 3 173113680 173113680 C G snp upstream NLGN1 Nlgn1 ENSG00000169760 neuroligin 1 chr3:173114074-174004434 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] Psychiatric Disorders; Amyotrophic Lateral Sclerosis|; Alcoholism; Autism; depression; Depressive Disorder, Major; Body Height; Narcolepsy; Tobacco Use Disorder; Myocardial Infarction; schizophrenia | autism; several psychiatric disorders Mice homozygous for a knock-out allele are viable and fertile but display impaired NMDA receptor-mediated synaptic transmission onto CA1 pyramidal cells. Neurexins and neuroligins GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006605;protein targeting;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0007158;neuron cell-cell adhesion;IEA|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;IEA|GO:0010841;positive regulation of circadian sleep/wake cycle, wakefulness;IEA|GO:0016080;synaptic vesicle targeting;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0023041;neuronal signal transduction;TAS|GO:0031175;neuron projection development;IDA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0035418;protein localization to synapse;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045664;regulation of neuron differentiation;IEA|GO:0048489;synaptic vesicle transport;IEA|GO:0048511;rhythmic process;IEA|GO:0048789;cytoskeletal matrix organization at active zone;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0050808;synapse organization;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0051965;positive regulation of synapse assembly;IDA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0061002;negative regulation of dendritic spine morphogenesis;IGI|GO:0072553;terminal button organization;IEA|GO:0097091;synaptic vesicle clustering;IEA|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:0097113;AMPA glutamate receptor clustering;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097115;neurexin clustering involved in presynaptic membrane assembly;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0098942;retrograde trans-synaptic signaling by trans-synaptic protein complex;IEA|GO:1900029;positive regulation of ruffle assembly;IEA|GO:1900244;positive regulation of synaptic vesicle endocytosis;IEA|GO:1902474;positive regulation of protein localization to synapse;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:1904861;excitatory synapse assembly;IEA|GO:1905520;positive regulation of presynaptic active zone assembly;IEA|GO:2000302;positive regulation of synaptic vesicle exocytosis;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000809;positive regulation of synaptic vesicle clustering;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0032433;filopodium tip;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;IEA|GO:0098793;presynapse;IEA|GO:0099055;integral component of postsynaptic membrane;TAS GO:0004872;receptor activity;IEA|GO:0030165;PDZ domain binding;IDA|GO:0042043;neurexin family protein binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0050839;cell adhesion molecule binding;IEA|GO:0052689;carboxylic ester hydrolase activity;IBA|GO:0097110;scaffold protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NLGN1 https://www.ncbi.nlm.nih.gov/omim/?term=600568 http://www.informatics.jax.org/searchtool/Search.do?query=NLGN1&submit=Quick%0D%12562ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLGN1 rs556464 0.626198 0 0 1 0 0 intergenic intergenic upstream SPATA16(dist=254622),NLGN1(dist=2558) SPATA16(dist=254622),NLGN1(dist=2564) ENSG00000169760 Na Na Na Na Na Na Het;C>G 42;2|3 Ref Hom;C>G 71;0|4 N N - 3 174095188 174095188 G A snp ncRNA_exonic AC069218.1 rs13079516 0.170527 0 0 1 0 0 intergenic intergenic ncRNA_exonic NLGN1(dist=94049),NAALADL2(dist=481923) NLGN1(dist=94072),NONE(dist=NONE) ENSG00000213169 Na Na Na Na Na Na Het;G>A 857;50|42 Ref Hom;G>A 2269;0|88 N N - 3 174496239 174496239 T TA indel intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs200937846 0.254193 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495100),NAALADL2(dist=80872) Mir_652(dist=11424),NAALADL2(dist=80872) ENSG00000177694 Na Na Na Na Na Na Het;+A 727;61|25 Ref Hom;+A 4530;2|112 N N - 3 174496241 174496241 C T snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs62287836 0.227835 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495102),NAALADL2(dist=80870) Mir_652(dist=11426),NAALADL2(dist=80870) ENSG00000177694 Na Na Na Na Na Na Het;C>T 736;60|20 Ref Hom;C>T 4539;2|92 N N - 3 174496242 174496242 A AAAT indel intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs75861180 0.253395 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495103),NAALADL2(dist=80869) Mir_652(dist=11427),NAALADL2(dist=80869) ENSG00000177694 Na Na Na Na Na Na Het;+AAT 619;60|20 Ref Hom;+AAT 4013;2|92 N N - 3 174496244 174496247 CAGG C indel intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs755703907 0 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495105),NAALADL2(dist=80864) Mir_652(dist=11429),NAALADL2(dist=80864) ENSG00000177694 Na Na Na Na Na Na Het;-AGG 616;61|19 Ref Hom;-AGG 4013;2|90 N N - 3 174496248 174496248 T TAAC indel intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs753769567 0 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495109),NAALADL2(dist=80863) Mir_652(dist=11433),NAALADL2(dist=80863) ENSG00000177694 Na Na Na Na Na Na Het;+AAC 583;58|19 Ref Hom;+AAC 3923;2|90 N N - 3 174496250 174496250 T A snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs62284880 0.227835 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495111),NAALADL2(dist=80861) Mir_652(dist=11435),NAALADL2(dist=80861) ENSG00000177694 Na Na Na Na Na Na Het;T>A 592;59|19 Ref Hom;T>A 3932;2|83 N N - 3 174496331 174496331 G A snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs520771 0.251997 0 0 1 0 0 intergenic intergenic intronic NLGN1(dist=495192),NAALADL2(dist=80780) Mir_652(dist=11516),NAALADL2(dist=80780) ENSG00000177694 Na Na Na Na Na Na Het;G>A 142;14|6 Ref Hom;G>A 676;0|20 N N - 3 175165201 175165201 T G snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs2161041 0.834665 0.7993 0.8349 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;T>G 247;16|11 Het;T>G 254;7|9 Hom;T>G 927;0|29 N N - 3 175185060 175185060 T G snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs9839245 0.483227 0 0 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;T>G 198;4|6 Het;T>G 129;7|5 Hom;T>G 741;0|19 N N - 3 175189406 175189407 CT C indel intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs35213579 0.790935 0 0.8828 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;-T 1428;55|40 Het;-T 1264;26|35 Hom;-T 2432;0|54 N N - 3 175189417 175189417 G A snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs79264590 0.547125 0 0.5993 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;G>A 1529;63|45 Het;G>A 952;33|40 Hom;G>A 2718;0|67 N N - 3 175189447 175189447 G A snp synonymous SNV G1554A Q518Q polar,hydrophilic,neutral polar,hydrophilic,neutral NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs9290555 0.547125 0.5449 0.6186 1 0 0 exonic exonic exonic NAALADL2 NAALADL2 ENSG00000177694 synonymous SNV synonymous SNV unknown NAALADL2:NM_207015:exon9:c.G1554A:p.Q518Q, NAALADL2:uc003fiu.1:exon9:c.G1533A:p.Q511Q,NAALADL2:uc010hwy.2:exon8:c.G831A:p.Q277Q,NAALADL2:uc010hwz.1:exon6:c.G336A:p.Q112Q,NAALADL2:uc003fit.3:exon9:c.G1554A:p.Q518Q, UNKNOWN Het;G>A 1336;82|61 Het;G>A 1456;66|62 Hom;G>A 2375;2|97 N N - 3 175189718 175189718 A G snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs9879221 0.536342 0 0 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;A>G 359;8|11 Het;A>G 187;6|6 Hom;A>G 213;0|6 N N - 3 175319437 175319437 A G snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs13063406 0.744209 0 0 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;A>G 177;15|8 Het;A>G 88;2|4 Hom;A>G 484;2|19 N N - 3 175319685 175319685 C T snp intronic NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs7614230 0.791134 0 0 1 0 0 intronic intronic intronic NAALADL2 NAALADL2 ENSG00000177694 Na Na Na Na Na Na Het;C>T 140;2|5 Ref Hom;C>T 140;0|5 N N - 3 175345143 175345143 C G snp nonsynonymous SNV C1142G P381R hydrophobic,neutral polar,hydrophilic,charged(+) NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs9866564 0.758187 0.7249 0.7941 0.69 9 13 exonic exonic exonic NAALADL2 NAALADL2 ENSG00000177694 nonsynonymous SNV nonsynonymous SNV unknown NAALADL2:NM_207015:exon11:c.C1865G:p.P622R, NAALADL2:uc010hwy.2:exon10:c.C1142G:p.P381R,NAALADL2:uc003fit.3:exon11:c.C1865G:p.P622R, UNKNOWN Het;C>G 178;11|9 Het;C>G 506;33|25 Hom;C>G 2031;0|78 N N - 3 176403499 176403499 A G snp ncRNA_intronic AC092920.1 rs2130464 0.786342 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC01208(dist=50179),LINC01209(dist=128445) NAALADL2(dist=880071),TBL1XR1(dist=335043) ENSG00000232461 Na Na Na Na Na Na Het;A>G 258;17|9 Het;A>G 167;13|8 Hom;A>G 620;0|17 N N - 3 176533083 176533083 A T snp ncRNA_exonic LINC01209 rs885569 0.673922 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01209 NAALADL2(dist=1009655),TBL1XR1(dist=205459) ENSG00000228308 Na Na Na Na Na Na Het;A>T 2235;157|106 Het;A>T 2681;127|125 Hom;A>T 6085;0|221 N N - 3 176533245 176533246 GT G indel ncRNA_exonic LINC01209 rs397874338 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01209 NAALADL2(dist=1009817),TBL1XR1(dist=205296) ENSG00000228308 Na Na Na Na Na Na Het;-T 2363;77|91 Het;-T 2112;77|82 Hom;-T 5502;0|173 N N - 3 176533356 176533356 T C snp ncRNA_exonic LINC01209 rs885568 0.790335 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01209 NAALADL2(dist=1009928),TBL1XR1(dist=205186) ENSG00000228308 Na Na Na Na Na Na Het;T>C 1928;63|79 Het;T>C 1795;109|86 Hom;T>C 5048;0|174 N N - 3 176534014 176534014 A AT indel ncRNA_exonic LINC01209 rs35529301 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01209 NAALADL2(dist=1010586),TBL1XR1(dist=204528) ENSG00000228308 Na Na Na Na Na Na Het;+T 862;27|21 Het;+T 887;14|23 Hom;+T 1575;0|32 N N - 3 176534019 176534019 A G snp ncRNA_exonic LINC01209 rs35134923 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01209 NAALADL2(dist=1010591),TBL1XR1(dist=204523) ENSG00000228308 Na Na Na Na Na Na Het;A>G 862;30|25 Het;A>G 887;17|23 Hom;A>G 1728;0|44 N N - 3 176534860 176534862 AAT A indel upstream LINC01209 rs372297786 0.930711 0 0 1 0 0 upstream intergenic ncRNA_intronic LINC01209 NAALADL2(dist=1011432),TBL1XR1(dist=203680) ENSG00000232461 Na Na Na Na Na Na Het;-AT 426;9|12 Ref Hom;-AT 277;0|8 N N - 3 176684959 176684959 T C snp intergenic LINC01209 rs4857809 0.782947 0 0 1 0 0 intergenic intergenic intergenic LINC01209(dist=150170),TBL1XR1(dist=53583) NAALADL2(dist=1161531),TBL1XR1(dist=53583) ENSG00000232461(dist=99333),ENSG00000231888(dist=43548) Na Na Na Na Na Na Het;T>C 174;13|7 Het;T>C 263;13|12 Hom;T>C 555;0|18 N N - 3 176684998 176684998 C T snp intergenic LINC01209 rs4857810 0.778554 0 0 1 0 0 intergenic intergenic intergenic LINC01209(dist=150209),TBL1XR1(dist=53544) NAALADL2(dist=1161570),TBL1XR1(dist=53544) ENSG00000232461(dist=99372),ENSG00000231888(dist=43509) Na Na Na Na Na Na Het;C>T 96;6|4 Het;C>T 236;10|8 Hom;C>T 122;0|4 N N - 3 178474804 178474804 T C snp ncRNA_intronic AF279780 rs7615619 0.383187 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic KCNMB2-AS1 AF279780,AY769439 ENSG00000237978 Na Na Na Na Na Na Het;T>C 1422;60|56 Het;T>C 1549;53|63 Hom;T>C 4042;2|139 N N - 3 178976591 178976591 T A snp intronic KCNMB3 Kcnmb3 ENSG00000171121 potassium calcium-activated channel subfamily M regulatory beta subunit 3 chr3:178957530-178984790 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009] epilepsy cGMP effects GO:0001508;action potential;IDA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0019228;neuronal action potential;IDA|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015269;calcium-activated potassium channel activity;IDA|GO:0015459;potassium channel regulator activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/KCNMB3 https://www.ncbi.nlm.nih.gov/omim/?term=605222 http://www.informatics.jax.org/searchtool/Search.do?query=KCNMB3&submit=Quick%0D%12853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNMB3 rs56400023 0.554513 0 0 1 0 0 intronic intronic intronic KCNMB3 KCNMB3 ENSG00000171121 Na Na Na Na Na Na Het;T>A 257;2|8 Het;T>A 112;2|4 Hom;T>A 195;0|6 N N - 3 178976777 178976777 C T snp UTR5 -40G>A KCNMB3 Kcnmb3 ENSG00000171121 potassium calcium-activated channel subfamily M regulatory beta subunit 3 chr3:178957530-178984790 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009] epilepsy cGMP effects GO:0001508;action potential;IDA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0019228;neuronal action potential;IDA|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015269;calcium-activated potassium channel activity;IDA|GO:0015459;potassium channel regulator activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/KCNMB3 https://www.ncbi.nlm.nih.gov/omim/?term=605222 http://www.informatics.jax.org/searchtool/Search.do?query=KCNMB3&submit=Quick%0D%12853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNMB3 rs11720871 0.554513 0.4106 0.5586 1 0 0 UTR5 UTR5 UTR5 KCNMB3(NM_171829:c.-40G>A) KCNMB3(uc003fjo.3:c.-40G>A) ENSG00000171121(ENST00000392686:c.-40G>A,ENST00000485523:c.-40G>A) Na Na Na Na Na Na Het;C>T 1699;95|71 Het;C>T 2007;91|90 Hom;C>T 4225;0|150 N N - 3 178976821 178976821 G A snp ncRNA_exonic LRRFIP1P1 rs11720935 0.554313 0.4069 0 1 0 0 UTR5 UTR5 ncRNA_exonic KCNMB3(NM_171829:c.-84C>T) KCNMB3(uc003fjo.3:c.-84C>T) ENSG00000240429 Na Na Na Na Na Na Het;G>A 2236;109|92 Het;G>A 2055;110|93 Hom;G>A 5619;0|199 N N - 3 178977111 178977111 G T snp ncRNA_exonic LRRFIP1P1 rs2160756 0.740815 0 0 1 0 0 UTR5 UTR5 ncRNA_exonic KCNMB3(NM_171829:c.-374C>A) KCNMB3(uc003fjo.3:c.-374C>A) ENSG00000240429 Na Na Na Na Na Na Het;G>T 1870;95|82 Het;G>T 1859;99|84 Hom;G>T 4918;0|176 N N - 3 178977844 178977844 G C snp ncRNA_exonic LRRFIP1P1 rs7613411 0.876198 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;G>C 944;60|41 Het;G>C 1104;32|43 Hom;G>C 2228;0|77 N N - 3 178978078 178978078 T G snp ncRNA_exonic LRRFIP1P1 rs62410370 0.555312 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;T>G 1839;67|80 Het;T>G 1346;61|60 Hom;T>G 3907;1|132 N N - 3 178978328 178978328 C T snp ncRNA_exonic LRRFIP1P1 rs62410371 0.555312 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;C>T 836;23|34 Het;C>T 870;24|40 Hom;C>T 1816;0|65 N N - 3 178978542 178978542 G A snp ncRNA_exonic LRRFIP1P1 rs62410372 0.555312 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;G>A 775;27|34 Het;G>A 787;40|36 Hom;G>A 1815;0|67 N N - 3 178978604 178978604 T G snp ncRNA_exonic LRRFIP1P1 rs7429685 0.634185 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;T>G 460;15|19 Het;T>G 773;35|31 Hom;T>G 1512;0|54 N N - 3 178978689 178978689 A G snp ncRNA_exonic LRRFIP1P1 rs62410373 0.555312 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;A>G 347;24|14 Het;A>G 541;25|25 Hom;A>G 1723;0|58 N N - 3 178978718 178978718 C T snp ncRNA_exonic LRRFIP1P1 rs62410374 0.555312 0 0 1 0 0 intronic intronic ncRNA_exonic KCNMB3 KCNMB3 ENSG00000240429 Na Na Na Na Na Na Het;C>T 270;35|12 Het;C>T 658;24|28 Hom;C>T 1774;0|64 N N - 3 179092989 179092989 C T snp intronic MFN1 Mfn1 ENSG00000171109 mitofusin 1 chr3:179065480-179112719 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Glaucoma, Open-Angle Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. Factors involved in megakaryocyte development and platelet production GO:0008053;mitochondrial fusion;IEA|GO:0016236;macroautophagy;TAS|GO:0046039;GTP metabolic process;IDA|GO:0051646;mitochondrion localization;IMP|GO:1990613;mitochondrial membrane fusion;IMP GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031306;intrinsic component of mitochondrial outer membrane;IBA|GO:0031307;integral component of mitochondrial outer membrane;IDA|GO:0098799;outer mitochondrial membrane protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFN1 https://www.ncbi.nlm.nih.gov/omim/?term=608506 http://www.informatics.jax.org/searchtool/Search.do?query=MFN1&submit=Quick%0D%12849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFN1 rs9865666 0.735224 0.6984 0.6991 1 0 0 intronic intronic intronic MFN1 MFN1 ENSG00000171109 Na Na Na Na Na Na Het;C>T 357;26|16 Het;C>T 488;23|22 Hom;C>T 1645;0|57 N N - 3 179103342 179103342 C CT indel intronic MFN1 Mfn1 ENSG00000171109 mitofusin 1 chr3:179065480-179112719 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Glaucoma, Open-Angle Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. Factors involved in megakaryocyte development and platelet production GO:0008053;mitochondrial fusion;IEA|GO:0016236;macroautophagy;TAS|GO:0046039;GTP metabolic process;IDA|GO:0051646;mitochondrion localization;IMP|GO:1990613;mitochondrial membrane fusion;IMP GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031306;intrinsic component of mitochondrial outer membrane;IBA|GO:0031307;integral component of mitochondrial outer membrane;IDA|GO:0098799;outer mitochondrial membrane protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFN1 https://www.ncbi.nlm.nih.gov/omim/?term=608506 http://www.informatics.jax.org/searchtool/Search.do?query=MFN1&submit=Quick%0D%12849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFN1 rs200984893 0 0 0.6686 1 0 0 intronic intronic intronic MFN1 MFN1 ENSG00000171109 Na Na Na Na Na Na Het;+T 751;42|39 Het;+T 679;30|32 Hom;+T 1693;2|66 N N - 3 179109735 179109735 A G snp intronic MFN1 Mfn1 ENSG00000171109 mitofusin 1 chr3:179065480-179112719 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Glaucoma, Open-Angle Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. Factors involved in megakaryocyte development and platelet production GO:0008053;mitochondrial fusion;IEA|GO:0016236;macroautophagy;TAS|GO:0046039;GTP metabolic process;IDA|GO:0051646;mitochondrion localization;IMP|GO:1990613;mitochondrial membrane fusion;IMP GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031306;intrinsic component of mitochondrial outer membrane;IBA|GO:0031307;integral component of mitochondrial outer membrane;IDA|GO:0098799;outer mitochondrial membrane protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFN1 https://www.ncbi.nlm.nih.gov/omim/?term=608506 http://www.informatics.jax.org/searchtool/Search.do?query=MFN1&submit=Quick%0D%12849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFN1 rs2287209 0.735224 0.7077 0.7004 1 0 0 intronic intronic intronic MFN1 MFN1 ENSG00000171109 Na Na Na Na Na Na Het;A>G 159;18|7 Het;A>G 579;16|23 Hom;A>G 1258;0|43 N N - 3 179137273 179137273 A G snp synonymous SNV T117C S39S polar,hydrophilic,neutral polar,hydrophilic,neutral GNB4 Gnb4 ENSG00000114450 G protein subunit beta 4 chr3:179116990-179169378 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008] Follicle Stimulating Hormone; Urinary Bladder Neoplasms; Colorectal Neoplasms Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0007165;signal transduction;IEA|GO:0021762;substantia nigra development;IEP|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNB4 https://www.uniprot.org/uniprot/Q9HAV0 https://hpo.jax.org/app/browse/search?q=GNB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610863 http://www.informatics.jax.org/searchtool/Search.do?query=GNB4&submit=Quick%0D%4467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNB4 rs1362650 0.473043 0.4657 0.4731 1 0 0 exonic exonic exonic GNB4 GNB4 ENSG00000114450 synonymous SNV synonymous SNV unknown GNB4:NM_021629:exon4:c.T117C:p.S39S, GNB4:uc003fjv.4:exon4:c.T117C:p.S39S, UNKNOWN Het;A>G 1215;56|57 Het;A>G 1357;43|65 Hom;A>G 3452;1|133 N N - 3 179298999 179298999 C T snp synonymous SNV C891T D297D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ACTL6A Actl6a ENSG00000136518 actin like 6A chr3:179280668-179306196 This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit embryonic lethality before E6.5. Mice homozygous for a conditional allele activated in hematopoietic cells exhibit bone marrow failure and premature death. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0003407;neural retina development;IEP|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007165;signal transduction;TAS|GO:0007399;nervous system development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0021510;spinal cord development;IEA|GO:0040008;regulation of growth;IEA|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0031011;Ino80 complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;IDA|GO:0090544;BAF-type complex;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0003682;chromatin binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTL6A https://www.uniprot.org/uniprot/O96019 https://www.ncbi.nlm.nih.gov/omim/?term=604958 http://www.informatics.jax.org/searchtool/Search.do?query=ACTL6A&submit=Quick%0D%7357ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL6A rs1132429 0.680511 0.6025 0.6516 1 0 0 exonic exonic exonic ACTL6A ACTL6A ENSG00000136518 synonymous SNV synonymous SNV unknown ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D,ACTL6A:NM_004301:exon11:c.C1017T:p.D339D, ACTL6A:uc003fjx.3:exon11:c.C891T:p.D297D,ACTL6A:uc003fjw.3:exon11:c.C1017T:p.D339D,ACTL6A:uc003fjy.3:exon11:c.C891T:p.D297D, UNKNOWN Het;C>T 844;54|41 Het;C>T 1182;47|55 Hom;C>T 3428;0|125 N N - 3 179305654 179305654 A T snp intronic ACTL6A Actl6a ENSG00000136518 actin like 6A chr3:179280668-179306196 This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit embryonic lethality before E6.5. Mice homozygous for a conditional allele activated in hematopoietic cells exhibit bone marrow failure and premature death. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0003407;neural retina development;IEP|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007165;signal transduction;TAS|GO:0007399;nervous system development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0021510;spinal cord development;IEA|GO:0040008;regulation of growth;IEA|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0031011;Ino80 complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;IDA|GO:0090544;BAF-type complex;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0003682;chromatin binding;TAS|GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTL6A https://www.uniprot.org/uniprot/O96019 https://www.ncbi.nlm.nih.gov/omim/?term=604958 http://www.informatics.jax.org/searchtool/Search.do?query=ACTL6A&submit=Quick%0D%7357ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL6A rs6443659 0.688898 0 0 1 0 0 intronic intronic intronic ACTL6A ACTL6A ENSG00000136518 Na Na Na Na Na Na Het;A>T 679;28|36 Het;A>T 236;43|17 Hom;A>T 1203;1|44 N N - 3 179371332 179371332 G C snp intronic USP13 Usp13 ENSG00000058056 ubiquitin specific peptidase 13 (isopeptidase T-3) chr3:179370543-179507189 Calcium; Tobacco Use Disorder Regulation of PTEN stability and activity GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0008283;cell proliferation;IMP|GO:0010506;regulation of autophagy;IDA|GO:0016579;protein deubiquitination;TAS|GO:0030318;melanocyte differentiation;TAS|GO:0035523;protein K29-linked deubiquitination;IDA|GO:0044313;protein K6-linked deubiquitination;IDA|GO:0050821;protein stabilization;IDA|GO:0070536;protein K63-linked deubiquitination;IDA|GO:1904294;positive regulation of ERAD pathway;IMP|GO:1904378;maintenance of unfolded protein involved in ERAD pathway;IMP GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0043130;ubiquitin binding;IDA|GO:0044389;ubiquitin-like protein ligase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI|GO:0070628;proteasome binding;IDA|GO:1904288;BAT3 complex binding;IDA|GO:1904454;ubiquitin-specific protease activity involved in positive regulation of ERAD pathway;IMP http://www.genecards.org/index.php?path=/Search/keyword/USP13 https://www.uniprot.org/uniprot/Q92995 https://www.ncbi.nlm.nih.gov/omim/?term=603591 http://www.informatics.jax.org/searchtool/Search.do?query=USP13&submit=Quick%0D%1027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP13 rs9875917 0.3752 0 0 1 0 0 intronic intronic intronic USP13 USP13 ENSG00000058056 Na Na Na Na Na Na Het;G>C 46;2|2 Het;G>C 119;1|4 Hom;G>C 149;0|5 N N - 3 182673196 182673196 C T snp ncRNA_exonic AC092953.1 rs7641401 0.610823 0 0 1 0 0 intronic intronic ncRNA_exonic DCUN1D1 DCUN1D1 ENSG00000244346 Na Na Na Na Na Na Het;C>T 197;22|12 Het;C>T 235;9|12 Hom;C>T 756;0|27 N N - 3 182673259 182673259 C T snp ncRNA_exonic AC092953.1 rs7641467 0.596046 0 0 1 0 0 intronic intronic ncRNA_exonic DCUN1D1 DCUN1D1 ENSG00000244346 Na Na Na Na Na Na Het;C>T 195;24|13 Het;C>T 270;12|13 Hom;C>T 966;0|35 N N - 3 182673355 182673355 C T snp ncRNA_exonic AC092953.1 rs7641582 0.643371 0 0 1 0 0 intronic intronic ncRNA_exonic DCUN1D1 DCUN1D1 ENSG00000244346 Na Na Na Na Na Na Het;C>T 153;10|9 Het;C>T 194;10|11 Hom;C>T 846;0|31 N N - 3 182681740 182681740 C T snp synonymous SNV G318A A106A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DCUN1D1 Dcun1d1 ENSG00000043093 defective in cullin neddylation 1 domain containing 1 chr3:182655862-182703741 Dementia| Mice homozygous for a knock-out allele are runted with spleen and lymphoid hypoplasia and decreased mouse embryonic fibroblast proliferation. Males are infertile and exhibit abnormal spermiogenesis. Neddylation GO:0008150;biological_process;ND|GO:0043687;post-translational protein modification;TAS|GO:0045116;protein neddylation;IBA|GO:0051443;positive regulation of ubiquitin-protein transferase activity;IBA GO:0000151;ubiquitin ligase complex;IDA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0032182;ubiquitin-like protein binding;IBA|GO:0097602;cullin family protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DCUN1D1 https://www.uniprot.org/uniprot/Q96GG9 https://www.ncbi.nlm.nih.gov/omim/?term=605905 http://www.informatics.jax.org/searchtool/Search.do?query=DCUN1D1&submit=Quick%0D%843ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCUN1D1 rs4859146 0.613019 0.7567 0.6885 1 0 0 exonic exonic exonic DCUN1D1 DCUN1D1 ENSG00000043093 synonymous SNV synonymous SNV unknown DCUN1D1:NM_020640:exon3:c.G318A:p.A106A, DCUN1D1:uc003fld.1:exon3:c.G318A:p.A106A, UNKNOWN Het;C>T 1053;72|52 Het;C>T 622;67|34 Hom;C>T 2812;0|108 N N - 3 182853670 182853670 T C snp nonsynonymous SNV A952G I318V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LAMP3 Lamp3 ENSG00000078081 lysosomal associated membrane protein 3 chr3:182840001-182881627 Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010] Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LAMP3 https://www.uniprot.org/uniprot/Q9UQV4 https://www.ncbi.nlm.nih.gov/omim/?term=605883 http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3 rs482912 0.496406 0.5915 0.6483 0.08 1 13 exonic exonic exonic LAMP3 LAMP3 ENSG00000078081 nonsynonymous SNV nonsynonymous SNV unknown LAMP3:NM_014398:exon5:c.A952G:p.I318V, LAMP3:uc003flh.4:exon5:c.A952G:p.I318V, UNKNOWN Het;T>C 1489;81|65 Het;T>C 1690;69|70 Hom;T>C 3738;0|127 N N - 3 182870082 182870082 G A snp intronic LAMP3 Lamp3 ENSG00000078081 lysosomal associated membrane protein 3 chr3:182840001-182881627 Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010] Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LAMP3 https://www.uniprot.org/uniprot/Q9UQV4 https://www.ncbi.nlm.nih.gov/omim/?term=605883 http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3 rs682396 0.870607 0 0 1 0 0 intronic intronic intronic LAMP3 LAMP3 ENSG00000078081 Na Na Na Na Na Na Het;G>A 135;8|6 Het;G>A 86;7|4 Hom;G>A 541;0|17 N N - 3 182871962 182871962 C T snp synonymous SNV G267A A89A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LAMP3 Lamp3 ENSG00000078081 lysosomal associated membrane protein 3 chr3:182840001-182881627 Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010] Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Bipolar Disorder; Parkinson's disease GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0010506;regulation of autophagy;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0035455;response to interferon-alpha;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:1901799;negative regulation of proteasomal protein catabolic process;IMP|GO:1903900;regulation of viral life cycle;IMP GO:0005634;nucleus;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097233;alveolar lamellar body membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LAMP3 https://www.uniprot.org/uniprot/Q9UQV4 https://www.ncbi.nlm.nih.gov/omim/?term=605883 http://www.informatics.jax.org/searchtool/Search.do?query=LAMP3&submit=Quick%0D%1646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMP3 rs653316 0.785942 0.8170 0.8076 1 0 0 exonic exonic exonic LAMP3 LAMP3 ENSG00000078081 synonymous SNV synonymous SNV unknown LAMP3:NM_014398:exon2:c.G267A:p.A89A, LAMP3:uc003flh.4:exon2:c.G267A:p.A89A, UNKNOWN Het;C>T 2370;129|103 Het;C>T 2297;138|110 Hom;C>T 5554;0|199 N N - 3 182899008 182899008 A G snp intronic MCF2L2 ENSG00000053524 MCF.2 cell line derived transforming sequence-like 2 chr3:182895831-183146566 Tobacco Use Disorder; Behcet Syndrome; Polycystic Ovary Syndrome; Type 2 diabetes; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCF2L2 https://www.uniprot.org/uniprot/Q86YR7 http://www.informatics.jax.org/searchtool/Search.do?query=MCF2L2&submit=Quick%0D%960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCF2L2 rs529055 0.823482 0 0 1 0 0 intronic intronic intronic MCF2L2 MCF2L2 ENSG00000053524 Na Na Na Na Na Na Het;A>G 207;16|11 Het;A>G 144;10|6 Hom;A>G 481;0|17 N N - 3 182946002 182946002 A G snp UTR3 *62T>C MCF2L2 ENSG00000053524 MCF.2 cell line derived transforming sequence-like 2 chr3:182895831-183146566 Tobacco Use Disorder; Behcet Syndrome; Polycystic Ovary Syndrome; Type 2 diabetes; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCF2L2 https://www.uniprot.org/uniprot/Q86YR7 http://www.informatics.jax.org/searchtool/Search.do?query=MCF2L2&submit=Quick%0D%960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCF2L2 rs6803121 0.904752 0 0 1 0 0 intronic UTR3 UTR3 MCF2L2 MCF2L2(uc003flj.1:c.*62T>C) ENSG00000053524(ENST00000447025:c.*62T>C) Na Na Na Na Na Na Het;A>G 82;5|5 Het;A>G 314;4|11 Hom;A>G 139;0|4 N N - 3 183165599 183165599 G A snp ncRNA_exonic LINC00888 rs7652231 0.524161 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00888 LINC00888 ENSG00000240024 Na Na Na Na Na Na Het;G>A 2243;74|94 Ref Hom;G>A 5236;0|186 N N - 3 183173326 183173326 G C snp ncRNA_exonic LINC00888 rs10845 0.909345 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00888 LINC00888 ENSG00000240024 Na Na Na Na Na Na Het;G>C 1905;102|89 Ref Hom;G>C 3997;0|148 N N - 3 183333065 183333065 G A snp ncRNA_intronic AC068769.1 rs116033724 0.0595048 0 0 1 0 0 intergenic intergenic ncRNA_intronic KLHL6(dist=59566),KLHL24(dist=20346) KLHL6(dist=59566),KLHL24(dist=20346) ENSG00000243584 Na Na Na Na Na Na Het;G>A 143;2|7 Ref Hom;G>A 146;0|6 N N - 3 184474117 184474117 A G snp downstream LINC02069 rs13081839 0.473442 0 0 1 0 0 downstream intergenic downstream LOC101928992 MAGEF1(dist=44281),VPS8(dist=55814) ENSG00000229433 Na Na Na Na Na Na Het;A>G 238;11|9 Ref Hom;A>G 118;0|4 N N - 3 184474826 184474826 G A snp ncRNA_exonic LOC101928992 rs4309706 0.334465 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928992 MAGEF1(dist=44990),VPS8(dist=55105) ENSG00000229433 Na Na Na Na Na Na Het;G>A 1287;70|53 Het;G>A 1060;61|47 Hom;G>A 2713;0|98 N N - 3 184475612 184475612 C CT indel ncRNA_exonic LOC101928992 rs397991854 0.585264 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928992 MAGEF1(dist=45776),VPS8(dist=54319) ENSG00000229433 Na Na Na Na Na Na Het;+T 246;6|18 Het;+T 320;10|20 Hom;+T 202;2|11 N N - 3 184483344 184483344 G A snp ncRNA_intronic LOC101928992 rs12634763 0.199481 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928992 MAGEF1(dist=53508),VPS8(dist=46587) ENSG00000229433 Na Na Na Na Na Na Het;G>A 428;4|17 Ref Hom;G>A 477;0|15 N N - 3 184490633 184490637 GGAGA G indel ncRNA_intronic LOC101928992 rs57424851 0 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928992 MAGEF1(dist=60797),VPS8(dist=39294) ENSG00000229433 Na Na Na Na Na Na Het;-GAGA 116;5|4 Ref Hom;-GAGA 233;0|6 N N - 3 184490673 184490677 AAAAG A indel ncRNA_intronic LOC101928992 rs139632689 0.192093 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928992 MAGEF1(dist=60837),VPS8(dist=39254) ENSG00000229433 Na Na Na Na Na Na Het;-AAAG 353;10|10 Ref Hom;-AAAG 606;0|15 N N - 3 184490944 184490946 ACC A indel upstream LOC101928992 rs139338222 0 0 0 1 0 0 upstream intergenic upstream LOC101928992 MAGEF1(dist=61108),VPS8(dist=38985) ENSG00000229433 Na Na Na Na Na Na Het;-CC 981;22|26 Ref Hom;-CC 2189;0|50 N N - 3 184490958 184490958 C T snp upstream LOC101928992 rs4686722 0.260783 0 0 1 0 0 upstream intergenic upstream LOC101928992 MAGEF1(dist=61122),VPS8(dist=38973) ENSG00000229433 Na Na Na Na Na Na Het;C>T 996;19|24 Ref Hom;C>T 2173;0|49 N N - 3 184633247 184633247 A C snp synonymous SNV A2367C L789L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral VPS8 Vps8 ENSG00000156931 VPS8, CORVET complex subunit chr3:184529931-184770402 Parkinson Disease; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0034058;endosomal vesicle fusion;IMP GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0033263;CORVET complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VPS8 http://www.informatics.jax.org/searchtool/Search.do?query=VPS8&submit=Quick%0D%10033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS8 rs4686879 0.455072 0.5758 0.5748 1 0 0 exonic exonic exonic VPS8 VPS8 ENSG00000156931 synonymous SNV synonymous SNV unknown VPS8:NM_001009921:exon27:c.A2367C:p.L789L,VPS8:NM_015303:exon27:c.A2361C:p.L787L, VPS8:uc010hye.1:exon7:c.A648C:p.L216L,VPS8:uc010hyd.1:exon25:c.A2091C:p.L697L,VPS8:uc003fpb.1:exon27:c.A2361C:p.L787L,VPS8:uc021xik.1:exon27:c.A2367C:p.L789L, UNKNOWN Het;A>C 2280;94|101 Ref Hom;A>C 5628;2|204 N N - 3 184644226 184644226 G A snp intronic VPS8 Vps8 ENSG00000156931 VPS8, CORVET complex subunit chr3:184529931-184770402 Parkinson Disease; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0034058;endosomal vesicle fusion;IMP GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0033263;CORVET complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VPS8 http://www.informatics.jax.org/searchtool/Search.do?query=VPS8&submit=Quick%0D%10033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS8 rs9290804 0.667732 0 0 1 0 0 intronic intronic intronic VPS8 VPS8 ENSG00000156931 Na Na Na Na Na Na Het;G>A 305;4|10 Ref Hom;G>A 121;0|4 N N - 3 184682214 184682214 T C snp intronic VPS8 Vps8 ENSG00000156931 VPS8, CORVET complex subunit chr3:184529931-184770402 Parkinson Disease; Tobacco Use Disorder GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0034058;endosomal vesicle fusion;IMP GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0033263;CORVET complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VPS8 http://www.informatics.jax.org/searchtool/Search.do?query=VPS8&submit=Quick%0D%10033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS8 rs6799328 0.633786 0.7951 0.6828 1 0 0 intronic intronic intronic VPS8 VPS8 ENSG00000156931 Na Na Na Na Na Na Het;T>C 250;12|10 Ref Hom;T>C 924;0|32 N N - 3 184935807 184935807 A C snp intronic EHHADH Ehhadh ENSG00000113790 enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase chr3:184908412-184999778 The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Celiac Disease|; Cognitive performance; Acquired Immunodeficiency Syndrome|Disease Progression; Psychomotor Performance; plasma HDL cholesterol (HDL-C) levels Mice homozygous for disruption of this gene display a normal phenotype. Beta-oxidation of very long chain fatty acids GO:0006475;internal protein amino acid acetylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0008152;metabolic process;IEA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005829;cytosol;IEA GO:0003824;catalytic activity;IEA|GO:0003857;3-hydroxyacyl-CoA dehydrogenase activity;TAS|GO:0004165;dodecenoyl-CoA delta-isomerase activity;IEA|GO:0004300;enoyl-CoA hydratase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016508;long-chain-enoyl-CoA hydratase activity;TAS|GO:0016829;lyase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EHHADH https://www.uniprot.org/uniprot/Q08426 https://hpo.jax.org/app/browse/search?q=EHHADH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607037 http://www.informatics.jax.org/searchtool/Search.do?query=EHHADH&submit=Quick%0D%4408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHHADH rs35531967 0.690895 0 0 1 0 0 intronic intronic intronic EHHADH EHHADH ENSG00000113790 Na Na Na Na Na Na Het;A>C 118;15|5 Ref Hom;A>C 320;0|9 N N - 3 185060911 185060911 A G snp intronic MAP3K13 Map3k13 ENSG00000073803 mitogen-activated protein kinase kinase kinase 13 chr3:185000729-185206885 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2; Tobacco Use Disorder GO:0000186;activation of MAPKK activity;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007254;JNK cascade;IDA|GO:0016310;phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0008385;IkappaB kinase complex;IDA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004709;MAP kinase kinase kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;ISS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP3K13 https://www.uniprot.org/uniprot/O43283 https://www.ncbi.nlm.nih.gov/omim/?term=604915 http://www.informatics.jax.org/searchtool/Search.do?query=MAP3K13&submit=Quick%0D%1483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP3K13 rs9851722 0.710863 0 0 1 0 0 intronic intronic intronic MAP3K13 MAP3K13 ENSG00000073803 Na Na Na Na Na Na Het;A>G 891;25|39 Het;A>G 481;23|21 Hom;A>G 1246;0|48 N N - 3 185226492 185226492 C T snp UTR3 *86G>A LIPH Liph ENSG00000163898 lipase H chr3:185224050-185270401 This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008] HYPOTRICHOSIS 7 Mice homozygous for a knock-out allele exhibit wavy vibrissae and wavy and matted coats associated with impaired inner rooth sheath formation. Synthesis of PA GO:0006629;lipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0016042;lipid catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0004620;phospholipase activity;TAS|GO:0008201;heparin binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LIPH https://hpo.jax.org/app/browse/search?q=LIPH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607365 http://www.informatics.jax.org/searchtool/Search.do?query=LIPH&submit=Quick%0D%11125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPH rs55854644 0.115016 0 0 1 0 0 UTR3 UTR3 UTR3 LIPH(NM_139248:c.*86G>A) LIPH(uc003fpm.3:c.*86G>A,uc010hyh.3:c.*86G>A) ENSG00000163898(ENST00000296252:c.*86G>A,ENST00000424591:c.*86G>A,ENST00000435679:c.*153G>A) Na Na Na Na Na Na Het;C>T 130;11|5 Ref Hom;C>T 593;0|16 N N - 3 185906246 185906250 CGTGT C indel intronic DGKG Dgkg ENSG00000058866 diacylglycerol kinase gamma chr3:185823457-186080026 This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; weight ; obesity|Type 2 diabetes; Blood Pressure Determination; obesity; Chronic renal failure|Kidney Failure, Chronic; Body mass index Effects of PIP2 hydrolysis GO:0007165;signal transduction;TAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0046486;glycerolipid metabolic process;IDA|GO:0046834;lipid phosphorylation;IDA|GO:0048666;neuron development;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DGKG https://www.uniprot.org/uniprot/P49619 https://www.ncbi.nlm.nih.gov/omim/?term=601854 http://www.informatics.jax.org/searchtool/Search.do?query=DGKG&submit=Quick%0D%1042ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKG rs3217178 0 0 0 1 0 0 intronic intronic intronic DGKG DGKG ENSG00000058866 Na Na Na Na Na Na Het;-GTGT 760;25|21 Ref Hom;-GTGT 1274;0|30 N N - 3 186435561 186435561 G A snp ncRNA_intronic AC068631.1 rs13072823 0.152955 0.1587 0.1385 1 0 0 intronic intronic ncRNA_intronic KNG1 KNG1 ENSG00000197099 Na Na Na Na Na Na Het;G>A 628;19|25 Ref Hom;G>A 1148;0|32 N N - 3 186437944 186437944 T C snp synonymous SNV T246C D82D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KNG1 Kng2 ENSG00000113889 kininogen 1 chr3:186435065-186461743 This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014] nephropathy, diabetic; Hypertension; sudden cardiac arrest risk; several psychiatric disorders; Type 2 Diabetes| edema | rosiglitazone; null; Partial Thromboplastin Time; Adiponectin; Cardiovascular Diseases|Coronary Artery Disease; Cardiomyopathies; Tobacco Use Disorder; Blood Coagulation Disorders, Inherited|Thrombosis Mice homozygous for a targeted null mutation are viable and grossly unaffected with normal tail vein bleeding times, despite loss of detectable plasma kininogen. However, homozygotes show a significantly longer time to carotid artery occlusion after RoseBengal and laser-induced arterial injury. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006954;inflammatory response;IEA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007596;blood coagulation;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030195;negative regulation of blood coagulation;IDA|GO:0042311;vasodilation;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045861;negative regulation of proteolysis;IDA|GO:0050880;regulation of blood vessel size;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;NAS|GO:0008270;zinc ion binding;NAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KNG1 https://www.uniprot.org/uniprot/P01042 https://www.ncbi.nlm.nih.gov/omim/?term=612358 http://www.informatics.jax.org/searchtool/Search.do?query=KNG1&submit=Quick%0D%4416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KNG1 rs5029980 0.0974441 0.0970 0.1217 1 0 0 exonic exonic exonic KNG1 KNG1 ENSG00000113889 synonymous SNV synonymous SNV unknown KNG1:NM_000893:exon2:c.T246C:p.D82D,KNG1:NM_001166451:exon2:c.T246C:p.D82D,KNG1:NM_001102416:exon2:c.T246C:p.D82D, KNG1:uc021xil.1:exon2:c.T246C:p.D82D,KNG1:uc011bsa.2:exon2:c.T246C:p.D82D,KNG1:uc003fqr.3:exon2:c.T246C:p.D82D, UNKNOWN Het;T>C 892;26|38 Ref Hom;T>C 2266;0|81 N N - 3 186442833 186442833 G C snp ncRNA_intronic AC068631.1 rs1656921 0.523562 0.5453 0.5351 1 0 0 intronic intronic ncRNA_intronic KNG1 KNG1 ENSG00000197099 Na Na Na Na Na Na Het;G>C 249;15|11 Ref Hom;G>C 1018;0|30 N N - 3 186443018 186443018 T C snp nonsynonymous SNV T533C M178T hydrophobic,neutral polar,hydrophilic,neutral KNG1 Kng2 ENSG00000113889 kininogen 1 chr3:186435065-186461743 This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014] nephropathy, diabetic; Hypertension; sudden cardiac arrest risk; several psychiatric disorders; Type 2 Diabetes| edema | rosiglitazone; null; Partial Thromboplastin Time; Adiponectin; Cardiovascular Diseases|Coronary Artery Disease; Cardiomyopathies; Tobacco Use Disorder; Blood Coagulation Disorders, Inherited|Thrombosis Mice homozygous for a targeted null mutation are viable and grossly unaffected with normal tail vein bleeding times, despite loss of detectable plasma kininogen. However, homozygotes show a significantly longer time to carotid artery occlusion after RoseBengal and laser-induced arterial injury. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006954;inflammatory response;IEA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007596;blood coagulation;IEA|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030195;negative regulation of blood coagulation;IDA|GO:0042311;vasodilation;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045861;negative regulation of proteolysis;IDA|GO:0050880;regulation of blood vessel size;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;NAS|GO:0008270;zinc ion binding;NAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KNG1 https://www.uniprot.org/uniprot/P01042 https://www.ncbi.nlm.nih.gov/omim/?term=612358 http://www.informatics.jax.org/searchtool/Search.do?query=KNG1&submit=Quick%0D%4416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KNG1 rs1656922 0.524161 0.5457 0.5373 0.08 1 13 exonic exonic exonic KNG1 KNG1 ENSG00000113889 nonsynonymous SNV nonsynonymous SNV unknown KNG1:NM_000893:exon4:c.T533C:p.M178T,KNG1:NM_001166451:exon4:c.T533C:p.M178T,KNG1:NM_001102416:exon4:c.T533C:p.M178T, KNG1:uc021xil.1:exon4:c.T533C:p.M178T,KNG1:uc011bsa.2:exon4:c.T533C:p.M178T,KNG1:uc003fqr.3:exon4:c.T533C:p.M178T, UNKNOWN Het;T>C 820;36|40 Ref Hom;T>C 2204;0|81 N N - 3 186952034 186952035 GA G indel UTR3 *1438_*1437delinsC MASP1 ENSG00000127241 mannan binding lectin serine peptidase 1 chr3:186935942-187009810 This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] lung cancer; Meningeal Neoplasms|meningioma; lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lupus erythematosus sepsis systemic inflammatory response syndrome; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways. Scavenging by Class A Receptors GO:0001867;complement activation, lectin pathway;TAS|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006956;complement activation;TAS|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IDA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MASP1 https://www.uniprot.org/uniprot/P48740 https://hpo.jax.org/app/browse/search?q=MASP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600521 http://www.informatics.jax.org/searchtool/Search.do?query=MASP1&submit=Quick%0D%6014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MASP1 rs770168258 0 0 0.9160 1 0 0 UTR3 UTR3 UTR3 MASP1(NM_139125:c.*1438_*1437delinsC) MASP1(uc003fri.3:c.*1438_*1437delinsC,uc003frj.3:c.*1438_*1437delinsC) ENSG00000127241(ENST00000296280:c.*1438_*1437delinsC,ENST00000392472:c.*1438_*1437delinsC) Na Na Na Na Na Na Het;-A 2206;85|60 Het;-A 1945;72|52 Hom;-A 5335;0|120 N N - 3 186952037 186952037 A AG indel UTR3 *1435T>CT MASP1 ENSG00000127241 mannan binding lectin serine peptidase 1 chr3:186935942-187009810 This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] lung cancer; Meningeal Neoplasms|meningioma; lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lupus erythematosus sepsis systemic inflammatory response syndrome; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways. Scavenging by Class A Receptors GO:0001867;complement activation, lectin pathway;TAS|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006956;complement activation;TAS|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IDA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MASP1 https://www.uniprot.org/uniprot/P48740 https://hpo.jax.org/app/browse/search?q=MASP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600521 http://www.informatics.jax.org/searchtool/Search.do?query=MASP1&submit=Quick%0D%6014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MASP1 rs763002473 0 0 0.9160 1 0 0 UTR3 UTR3 UTR3 MASP1(NM_139125:c.*1435T>CT) MASP1(uc003fri.3:c.*1435T>CT,uc003frj.3:c.*1435T>CT) ENSG00000127241(ENST00000296280:c.*1435T>CT,ENST00000392472:c.*1435T>CT) Na Na Na Na Na Na Het;+G 2206;85|59 Het;+G 1945;71|53 Hom;+G 5335;0|119 N N - 3 186953037 186953037 G A snp UTR3 *435C>T MASP1 ENSG00000127241 mannan binding lectin serine peptidase 1 chr3:186935942-187009810 This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] lung cancer; Meningeal Neoplasms|meningioma; lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lupus erythematosus sepsis systemic inflammatory response syndrome; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Macular Degeneration Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways. Scavenging by Class A Receptors GO:0001867;complement activation, lectin pathway;TAS|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006956;complement activation;TAS|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IDA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MASP1 https://www.uniprot.org/uniprot/P48740 https://hpo.jax.org/app/browse/search?q=MASP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600521 http://www.informatics.jax.org/searchtool/Search.do?query=MASP1&submit=Quick%0D%6014ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MASP1 rs874603 0.858027 0 0.9160 1 0 0 UTR3 UTR3 UTR3 MASP1(NM_139125:c.*435C>T) MASP1(uc003fri.3:c.*435C>T,uc003frj.3:c.*435C>T) ENSG00000127241(ENST00000296280:c.*435C>T,ENST00000392472:c.*435C>T) Na Na Na Na Na Na Het;G>A 1146;70|46 Het;G>A 1093;60|50 Hom;G>A 2335;0|77 N N - 3 187088656 187088656 C T snp nonsynonymous SNV C236T T79I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral RTP4 Rtp4 ENSG00000136514 receptor transporter protein 4 chr3:187086120-187089864 Echocardiography Olfactory Signaling Pathway GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0051205;protein insertion into membrane;IBA GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RTP4 https://www.uniprot.org/uniprot/Q96DX8 https://www.ncbi.nlm.nih.gov/omim/?term=609350 http://www.informatics.jax.org/searchtool/Search.do?query=RTP4&submit=Quick%0D%7356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP4 rs1047584 0.179712 0.2216 0.2037 0.38 5 13 exonic exonic exonic RTP4 RTP4 ENSG00000136514 nonsynonymous SNV nonsynonymous SNV unknown RTP4:NM_022147:exon2:c.C236T:p.T79I, RTP4:uc003frm.3:exon2:c.C236T:p.T79I, UNKNOWN Het;C>T 1367;60|62 Het;C>T 1251;67|59 Hom;C>T 2880;0|105 N N - 3 187183837 187183837 T TTTTG indel intergenic RTP4 Rtp4 ENSG00000136514 receptor transporter protein 4 chr3:187086120-187089864 Echocardiography Olfactory Signaling Pathway GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0051205;protein insertion into membrane;IBA GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RTP4 https://www.uniprot.org/uniprot/Q96DX8 https://www.ncbi.nlm.nih.gov/omim/?term=609350 http://www.informatics.jax.org/searchtool/Search.do?query=RTP4&submit=Quick%0D%7356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP4 rs142265801 0.220447 0 0 1 0 0 intergenic intergenic intergenic RTP4(dist=94468),SST(dist=202857) RTP4(dist=94468),SST(dist=202857) ENSG00000228952(dist=16599),ENSG00000157005(dist=202857) Na Na Na Na Na Na Het;+TTTG 1421;46|35 Ref Hom;+TTTG 3876;2|85 N N - 3 187683184 187683184 A G snp ncRNA_intronic LINC01991 rs6798814 0.455871 0 0 1 0 0 intergenic intergenic ncRNA_intronic BCL6(dist=219671),LPP-AS2(dist=185810) BCL6(dist=219671),LPP-AS2(dist=185810) ENSG00000224187 Na Na Na Na Na Na Het;A>G 628;63|29 Ref Hom;A>G 2002;0|71 N N - 3 187683685 187683685 C T snp ncRNA_exonic LINC01991 rs6777331 0.416334 0 0 1 0 0 intergenic intergenic ncRNA_exonic BCL6(dist=220172),LPP-AS2(dist=185309) BCL6(dist=220172),LPP-AS2(dist=185309) ENSG00000224187 Na Na Na Na Na Na Het;C>T 1919;118|89 Ref Hom;C>T 4056;1|146 N N - 3 187684310 187684310 A G snp ncRNA_exonic LINC01991 rs2292893 0.410743 0 0 1 0 0 intergenic intergenic ncRNA_exonic BCL6(dist=220797),LPP-AS2(dist=184684) BCL6(dist=220797),LPP-AS2(dist=184684) ENSG00000224187 Na Na Na Na Na Na Het;A>G 1849;81|79 Ref Hom;A>G 3962;0|143 N N - 3 187896912 187896912 G A snp ncRNA_exonic FLJ42393 rs13096262 0.552117 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR5 FLJ42393 FLJ42393 ENSG00000213132(ENST00000392468:c.-60G>A) Na Na Na Na Na Na Het;G>A 787;43|30 Het;G>A 303;28|15 Hom;G>A 1753;2|64 N N - 3 187897059 187897059 G A snp unknown ENSG00000213132 rs13096615 0.552117 0.4739 0.5453 1 0 0 ncRNA_exonic ncRNA_exonic exonic FLJ42393 FLJ42393 ENSG00000213132 Na Na unknown Na Na UNKNOWN Het;G>A 3059;148|128 Het;G>A 3533;116|153 Hom;G>A 7700;0|284 N N - 3 187897614 187897614 C G snp ncRNA_exonic FLJ42393 rs932154 0.551518 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ42393 FLJ42393 ENSG00000213132(ENST00000392468:c.*268C>G) Na Na Na Na Na Na Het;C>G 2484;88|102 Het;C>G 1943;56|79 Hom;C>G 3733;0|125 N N - 3 187897954 187897954 T A snp ncRNA_exonic FLJ42393 rs2127519 0.552117 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FLJ42393 FLJ42393 ENSG00000213132(ENST00000392468:c.*608T>A) Na Na Na Na Na Na Het;T>A 1811;85|68 Het;T>A 1271;88|60 Hom;T>A 3374;0|113 N N - 3 190936482 190936482 A C snp ncRNA_intronic OSTN-AS1 rs9290979 0.304313 0 0 1 0 0 intronic intronic ncRNA_intronic OSTN OSTN ENSG00000233308 Na Na Na Na Na Na Het;A>C 725;21|29 Ref Hom;A>C 1060;0|32 N N - 3 190946570 190946570 A G snp ncRNA_exonic OSTN-AS1 rs11921484 0.330871 0 0 1 0 0 intronic intronic ncRNA_exonic OSTN OSTN ENSG00000233308 Na Na Na Na Na Na Het;A>G 1099;42|47 Ref Hom;A>G 2868;1|110 N N - 3 190995847 190995847 T C snp intronic UTS2B Uts2b ENSG00000188958 urotensin 2B chr3:190984957-191048325 Myocardial Infarction; Alzheimer Disease G alpha (q) signalling events GO:0008217;regulation of blood pressure;IEA|GO:0097746;regulation of blood vessel diameter;IEA GO:0005576;extracellular region;TAS GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTS2B http://www.informatics.jax.org/searchtool/Search.do?query=UTS2B&submit=Quick%0D%16145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTS2B rs3214008 0.471246 0.4911 0.6185 1 0 0 intronic intronic intronic UTS2B UTS2B ENSG00000188958 Na Na Na Na Na Na Het;T>C 423;16|18 Ref Hom;T>C 1479;0|57 N N - 3 190999790 190999790 A G snp intronic UTS2B Uts2b ENSG00000188958 urotensin 2B chr3:190984957-191048325 Myocardial Infarction; Alzheimer Disease G alpha (q) signalling events GO:0008217;regulation of blood pressure;IEA|GO:0097746;regulation of blood vessel diameter;IEA GO:0005576;extracellular region;TAS GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTS2B http://www.informatics.jax.org/searchtool/Search.do?query=UTS2B&submit=Quick%0D%16145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTS2B rs6444533 0.471446 0 0 1 0 0 intronic intronic intronic UTS2B UTS2B ENSG00000188958 Na Na Na Na Na Na Het;A>G 222;4|7 Ref Hom;A>G 367;0|11 N N - 3 190999872 190999872 G A snp intronic UTS2B Uts2b ENSG00000188958 urotensin 2B chr3:190984957-191048325 Myocardial Infarction; Alzheimer Disease G alpha (q) signalling events GO:0008217;regulation of blood pressure;IEA|GO:0097746;regulation of blood vessel diameter;IEA GO:0005576;extracellular region;TAS GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTS2B http://www.informatics.jax.org/searchtool/Search.do?query=UTS2B&submit=Quick%0D%16145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTS2B rs6444534 0.471446 0.4931 0.5703 1 0 0 intronic intronic intronic UTS2B UTS2B ENSG00000188958 Na Na Na Na Na Na Het;G>A 679;20|28 Ref Hom;G>A 958;2|38 N N - 3 190999917 190999917 C A snp nonsynonymous SNV G62T S21I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral UTS2B Uts2b ENSG00000188958 urotensin 2B chr3:190984957-191048325 Myocardial Infarction; Alzheimer Disease G alpha (q) signalling events GO:0008217;regulation of blood pressure;IEA|GO:0097746;regulation of blood vessel diameter;IEA GO:0005576;extracellular region;TAS GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTS2B http://www.informatics.jax.org/searchtool/Search.do?query=UTS2B&submit=Quick%0D%16145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTS2B rs6788319 0.471446 0.4927 0.5692 0.08 1 13 exonic exonic exonic UTS2B UTS2B ENSG00000188958 nonsynonymous SNV nonsynonymous SNV unknown UTS2B:NM_198152:exon5:c.G62T:p.S21I, UTS2B:uc003fsu.3:exon5:c.G62T:p.S21I, UNKNOWN Het;C>A 916;31|43 Ref Hom;C>A 1409;2|57 N N - 3 190999990 190999990 C T snp UTR5 -12G>A UTS2B Uts2b ENSG00000188958 urotensin 2B chr3:190984957-191048325 Myocardial Infarction; Alzheimer Disease G alpha (q) signalling events GO:0008217;regulation of blood pressure;IEA|GO:0097746;regulation of blood vessel diameter;IEA GO:0005576;extracellular region;TAS GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTS2B http://www.informatics.jax.org/searchtool/Search.do?query=UTS2B&submit=Quick%0D%16145ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTS2B rs6444535 0.471446 0.4918 0.5803 1 0 0 UTR5 UTR5 UTR5 UTS2B(NM_198152:c.-12G>A) UTS2B(uc003fsu.3:c.-12G>A) ENSG00000188958(ENST00000340524:c.-12G>A,ENST00000440476:c.-12G>A,ENST00000446788:c.-12G>A,ENST00000427544:c.-12G>A,ENST00000425357:c.-12G>A,ENST00000432514:c.-12G>A) Na Na Na Na Na Na Het;C>T 987;29|46 Ref Hom;C>T 1529;2|62 N N - 3 191047532 191047532 A G snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs9847278 0.776757 0.6350 0.6579 1 0 0 intronic intronic intronic CCDC50,UTS2B CCDC50,UTS2B ENSG00000152492,ENSG00000188958 Na Na Na Na Na Na Het;A>G 828;28|37 Het;A>G 309;26|17 Hom;A>G 1444;0|53 N N - 3 191074873 191074873 C G snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs188384 0.770966 0.6229 0.6259 1 0 0 intronic intronic intronic CCDC50 CCDC50 ENSG00000152492 Na Na Na Na Na Na Het;C>G 352;30|19 Het;C>G 602;15|30 Hom;C>G 1956;0|75 N N - 3 191093053 191093053 T C snp synonymous SNV T651C H217H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs2028572 0.501997 0.4889 0.4285 1 0 0 exonic exonic exonic CCDC50 CCDC50 ENSG00000152492 synonymous SNV synonymous SNV unknown CCDC50:NM_178335:exon6:c.T651C:p.H217H, CCDC50:uc003fsv.3:exon6:c.T651C:p.H217H, UNKNOWN Het;T>C 1917;60|87 Ref Hom;T>C 4331;4|165 N N - 3 191093175 191093175 T A snp nonsynonymous SNV T773A I258N aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs2028574 0.501597 0.4889 0.4284 0.08 1 12 exonic exonic exonic CCDC50 CCDC50 ENSG00000152492 nonsynonymous SNV nonsynonymous SNV unknown CCDC50:NM_178335:exon6:c.T773A:p.I258N, CCDC50:uc003fsv.3:exon6:c.T773A:p.I258N, UNKNOWN Het;T>A 1260;53|52 Ref Hom;T>A 2986;0|107 N N - 3 191093310 191093310 A G snp nonsynonymous SNV A908G K303R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs4677728 0.502196 0.4884 0.4294 0.17 2 12 exonic exonic exonic CCDC50 CCDC50 ENSG00000152492 nonsynonymous SNV nonsynonymous SNV unknown CCDC50:NM_178335:exon6:c.A908G:p.K303R, CCDC50:uc003fsv.3:exon6:c.A908G:p.K303R, UNKNOWN Het;A>G 1132;39|48 Ref Hom;A>G 2547;0|92 N N - 3 191093384 191093384 A G snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs4677729 0.501597 0.4835 0.4344 1 0 0 intronic intronic intronic CCDC50 CCDC50 ENSG00000152492 Na Na Na Na Na Na Het;A>G 515;21|22 Ref Hom;A>G 1249;0|47 N N - 3 191093434 191093434 A G snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs293806 0.754193 0 0 1 0 0 intronic intronic intronic CCDC50 CCDC50 ENSG00000152492 Na Na Na Na Na Na Het;A>G 107;8|5 Het;A>G 302;8|9 Hom;A>G 519;0|17 N N - 3 191097908 191097908 C T snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs293812 0.644569 0.5801 0.5639 1 0 0 intronic intronic intronic CCDC50 CCDC50 ENSG00000152492 Na Na Na Na Na Na Het;C>T 234;9|11 Het;C>T 391;31|19 Hom;C>T 1945;0|70 N N - 3 191097966 191097966 T C snp nonsynonymous SNV T995C M332T hydrophobic,neutral polar,hydrophilic,neutral CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs293813 0.644569 0.5726 0.5372 0.08 1 13 exonic exonic exonic CCDC50 CCDC50 ENSG00000152492 nonsynonymous SNV nonsynonymous SNV unknown CCDC50:NM_178335:exon7:c.T995C:p.M332T,CCDC50:NM_174908:exon6:c.T467C:p.M156T, CCDC50:uc003fsv.3:exon7:c.T995C:p.M332T,CCDC50:uc003fsw.3:exon6:c.T467C:p.M156T, UNKNOWN Het;T>C 1107;41|45 Het;T>C 1025;88|55 Hom;T>C 4554;0|164 N N - 3 191098121 191098121 C T snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs293814 0.644569 0 0 1 0 0 intronic intronic intronic CCDC50 CCDC50 ENSG00000152492 Na Na Na Na Na Na Het;C>T 633;27|25 Het;C>T 501;70|27 Hom;C>T 2752;0|94 N N - 3 191098731 191098731 G A snp intronic CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs211043 0.644569 0.5722 0.5636 1 0 0 intronic intronic intronic CCDC50 CCDC50 ENSG00000152492 Na Na Na Na Na Na Het;G>A 558;35|26 Het;G>A 696;48|33 Hom;G>A 2995;2|113 N N - 3 191100561 191100561 C A snp synonymous SNV C1269A S423S polar,hydrophilic,neutral polar,hydrophilic,neutral CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs364519 0.644968 0.5724 0.5337 1 0 0 exonic exonic exonic CCDC50 CCDC50 ENSG00000152492 synonymous SNV synonymous SNV unknown CCDC50:NM_178335:exon10:c.C1269A:p.S423S,CCDC50:NM_174908:exon9:c.C741A:p.S247S, CCDC50:uc003fsv.3:exon10:c.C1269A:p.S423S,CCDC50:uc003fsw.3:exon9:c.C741A:p.S247S, UNKNOWN Het;C>A 203;15|12 Het;C>A 140;12|8 Hom;C>A 1078;0|43 N N - 3 191179193 191179193 A G snp nonsynonymous SNV A242G Q81R polar,hydrophilic,neutral polar,hydrophilic,charged(+) PYDC2 ENSG00000253548 pyrin domain containing 2 chr3:191178952-191179245 Cholesterol; Heart Rate; Body Mass Index; Body Weight; Echocardiography; Stroke; Pancreatic Neoplasms; Benzodiazepines GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042347;negative regulation of NF-kappaB import into nucleus;IMP|GO:0045087;innate immune response;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050728;negative regulation of inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PYDC2 https://www.ncbi.nlm.nih.gov/omim/?term=615701 http://www.informatics.jax.org/searchtool/Search.do?query=PYDC2&submit=Quick%0D%20029ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYDC2 rs293833 0.629992 0.7544 0.6885 0.10 1 10 exonic exonic exonic PYDC2 PYDC2 ENSG00000253548 nonsynonymous SNV nonsynonymous SNV unknown PYDC2:NM_001083308:exon1:c.A242G:p.Q81R, PYDC2:uc011bso.2:exon1:c.A242G:p.Q81R, UNKNOWN Het;A>G 1926;96|85 Het;A>G 2188;95|98 Hom;A>G 5147;1|184 N N - 3 191179303 191179303 C T snp downstream PYDC2 ENSG00000253548 pyrin domain containing 2 chr3:191178952-191179245 Cholesterol; Heart Rate; Body Mass Index; Body Weight; Echocardiography; Stroke; Pancreatic Neoplasms; Benzodiazepines GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042347;negative regulation of NF-kappaB import into nucleus;IMP|GO:0045087;innate immune response;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050728;negative regulation of inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PYDC2 https://www.ncbi.nlm.nih.gov/omim/?term=615701 http://www.informatics.jax.org/searchtool/Search.do?query=PYDC2&submit=Quick%0D%20029ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYDC2 rs176823 0.629193 0 0 1 0 0 ncRNA_intronic downstream downstream LINCR-0002 PYDC2 ENSG00000253548 Na Na Na Na Na Na Het;C>T 1157;32|45 Het;C>T 829;23|33 Hom;C>T 1595;0|53 N N - 3 193068737 193068737 A G snp intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs1038718 0.51238 0 0 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;A>G 103;5|5 Het;A>G 87;3|4 Hom;A>G 234;0|8 N N - 3 193068800 193068800 G A snp intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs1038719 0.513978 0 0 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;G>A 318;10|12 Het;G>A 569;12|22 Hom;G>A 1130;0|35 N N - 3 193069204 193069207 AGAG A indel intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs10598972 0.514177 0 0 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;-GAG 83;2|3 Het;-GAG 64;5|3 Hom;-GAG 268;0|7 N N - 3 193071888 193071889 CA C indel intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs11300573 0.514377 0 0.5538 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;-A 461;23|25 Het;-A 323;22|19 Hom;-A 1207;0|50 N N - 3 193080414 193080414 C G snp nonsynonymous SNV G397C E133Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs6797429 0.513778 0.5511 0.5117 0.23 3 13 exonic exonic exonic ATP13A5 ATP13A5 ENSG00000187527 nonsynonymous SNV nonsynonymous SNV unknown ATP13A5:NM_198505:exon4:c.G397C:p.E133Q, ATP13A5:uc011bsq.2:exon4:c.G397C:p.E133Q, UNKNOWN Het;C>G 948;91|47 Het;C>G 1049;74|52 Hom;C>G 2170;4|83 N N - 3 193081206 193081206 G A snp intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs2367605 0.522165 0.5597 0.5177 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;G>A 873;49|39 Het;G>A 762;47|35 Hom;G>A 2243;0|79 N N - 3 193081750 193081750 A G snp intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs923497 0.527756 0 0 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;A>G 48;2|2 Het;A>G 162;2|6 Hom;A>G 235;0|6 N N - 3 193081866 193081866 T A snp intronic ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs4386441 0.663738 0.6536 0.6777 1 0 0 intronic intronic intronic ATP13A5 ATP13A5 ENSG00000187527 Na Na Na Na Na Na Het;T>A 848;47|35 Het;T>A 922;26|39 Hom;T>A 1486;0|51 N N - 3 193096529 193096529 C T snp UTR5 -15G>A ATP13A5 Atp13a5 ENSG00000187527 ATPase 13A5 chr3:192992579-193096632 Triglycerides Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0034220;ion transmembrane transport;TAS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0019829;cation-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP13A5 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A5&submit=Quick%0D%15834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A5 rs4687419 0.670327 0.6578 0.6822 1 0 0 upstream upstream UTR5 ATP13A5 ATP13A5 ENSG00000187527(ENST00000342358:c.-15G>A,ENST00000446087:c.-15G>A) Na Na Na Na Na Na Het;C>T 362;29|20 Het;C>T 391;31|23 Hom;C>T 2059;1|80 N N - 3 193353072 193353072 G A snp intronic OPA1 Opa1 ENSG00000198836 OPA1, mitochondrial dynamin like GTPase chr3:193310933-193415612 This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Menopause; Waist-Hip Ratio; optic atrophy and moderate deafness; glaucoma, normal tension glaucoma, primary open-angle; normal tension glaucoma; glaucoma, normal tension; optic atrophy; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; Respiratory Function Tests; Optic Atrophy, Autosomal Dominant|Optic Atrophy, Hereditary, Leber; Optic Atrophy, Hereditary, Leber; Acquired Immunodeficiency Syndrome|Disease Progression; glaucoma; Glaucoma, Open-Angle; Optic Atrophies, Hereditary|Optic Atrophy, Autosomal Dominant|Optic Atrophy, Hereditary, Leber Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal responseto a new environment and decreased vision. Regulation of Apoptosis GO:0000002;mitochondrial genome maintenance;IMP|GO:0000266;mitochondrial fission;TAS|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006915;apoptotic process;IEA|GO:0007005;mitochondrion organization;IMP|GO:0007007;inner mitochondrial membrane organization;IDA|GO:0007568;aging;IEA|GO:0007601;visual perception;IEA|GO:0008053;mitochondrial fusion;IMP|GO:0010636;positive regulation of mitochondrial fusion;IEA|GO:0014042;positive regulation of neuron maturation;IEA|GO:0019896;axonal transport of mitochondrion;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0048312;intracellular distribution of mitochondria;IEA|GO:0050896;response to stimulus;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0070584;mitochondrion morphogenesis;IEA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;IMP|GO:0090398;cellular senescence;IDA|GO:1900006;positive regulation of dendrite development;IEA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IGI GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005758;mitochondrial intermembrane space;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030061;mitochondrial crista;IDA|GO:0030425;dendrite;ISS|GO:0031314;extrinsic component of mitochondrial inner membrane;IEA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OPA1 https://hpo.jax.org/app/browse/search?q=OPA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605290 http://www.informatics.jax.org/searchtool/Search.do?query=OPA1&submit=Quick%0D%17032ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OPA1 rs3736198 0.468051 0 0 1 0 0 intronic intronic intronic OPA1 OPA1 ENSG00000198836 Na Na Na Na Na Na Het;G>A 107;3|4 Ref Hom;G>A 81;0|3 N N - 3 193854961 193854961 T C snp UTR3 *259T>C HES1 Hes1 ENSG00000114315 hes family bHLH transcription factor 1 chr3:193853934-193856521 This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008] attention deficit hyperactivity disorder; ADHD | attention-deficit hyperactivity disorder; Bone Mineral Density; Autism Mutants show anomalous timing in neurogenesis. Homozygotes for a null allele exhibit premature neurogenesis, severe neural tube defects, supernumerary hair cells in the inner ear, increased numbers of pulmonary neuroendocrine cells, and pancreatic hypoplasia. Death occurs in utero or neonatally. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001889;liver development;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003266;regulation of secondary heart field cardioblast proliferation;IEA|GO:0003281;ventricular septum development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006461;protein complex assembly;IEA|GO:0007155;cell adhesion;IEA|GO:0007219;Notch signaling pathway;IDA|GO:0007224;smoothened signaling pathway;IEA|GO:0007262;STAT protein import into nucleus;IEA|GO:0007389;pattern specification process;IEA|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016477;cell migration;IEA|GO:0021537;telencephalon development;IEA|GO:0021555;midbrain-hindbrain boundary morphogenesis;IEA|GO:0021557;oculomotor nerve development;IEA|GO:0021558;trochlear nerve development;IEA|GO:0021575;hindbrain morphogenesis;IEA|GO:0021861;forebrain radial glial cell differentiation;ISS|GO:0021915;neural tube development;IEA|GO:0021983;pituitary gland development;IEA|GO:0021984;adenohypophysis development;IEA|GO:0030324;lung development;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030901;midbrain development;IEA|GO:0031016;pancreas development;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0035910;ascending aorta morphogenesis;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042491;auditory receptor cell differentiation;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0042668;auditory receptor cell fate determination;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045598;regulation of fat cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045977;positive regulation of mitotic cell cycle, embryonic;IEA|GO:0046331;lateral inhibition;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0048469;cell maturation;IEA|GO:0048505;regulation of timing of cell differentiation;IEA|GO:0048538;thymus development;IEA|GO:0048667;cell morphogenesis involved in neuron differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048844;artery morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0060164;regulation of timing of neuron differentiation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060675;ureteric bud morphogenesis;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061009;common bile duct development;IEA|GO:0061106;negative regulation of stomach neuroendocrine cell differentiation;IEA|GO:0061309;cardiac neural crest cell development involved in outflow tract morphogenesis;IEA|GO:0061626;pharyngeal arch artery morphogenesis;IEA|GO:0072012;glomerulus vasculature development;IEA|GO:0072049;comma-shaped body morphogenesis;IEA|GO:0072050;S-shaped body morphogenesis;IEA|GO:0072141;renal interstitial fibroblast development;IEA|GO:0072282;metanephric nephron tubule morphogenesis;IEA|GO:0090102;cochlea development;IEA|GO:0090162;establishment of epithelial cell polarity;IEA|GO:0097084;vascular smooth muscle cell development;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000227;negative regulation of pancreatic A cell differentiation;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IMP|GO:2000978;negative regulation of forebrain neuron differentiation;ISS|GO:2000981;negative regulation of inner ear receptor cell differentiation;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;NAS|GO:0042803;protein homodimerization activity;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;ISS|GO:0046983;protein dimerization activity;IEA|GO:0051087;chaperone binding;IEA|GO:0071820;N-box binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HES1 https://www.uniprot.org/uniprot/Q14469 https://www.ncbi.nlm.nih.gov/omim/?term=139605 http://www.informatics.jax.org/searchtool/Search.do?query=HES1&submit=Quick%0D%4450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HES1 rs2368048 0.557508 0 0 1 0 0 intronic UTR3 intronic HES1 HES1(uc011bst.2:c.*259T>C) ENSG00000114315 Na Na Na Na Na Na Het;T>C 112;9|5 Ref Hom;T>C 152;0|5 N N - 3 19389074 19389074 G A snp intronic KCNH8 Kcnh8 ENSG00000183960 potassium voltage-gated channel subfamily H member 8 chr3:19189946-19577138 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008] Hip; Pancreatic Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Cystatins; Erythrocyte Indices; hip geometry Voltage gated Potassium channels GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNH8 https://www.ncbi.nlm.nih.gov/omim/?term=608260 http://www.informatics.jax.org/searchtool/Search.do?query=KCNH8&submit=Quick%0D%15113ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH8 rs6551230 0.866014 0 0 1 0 0 intronic intronic intronic KCNH8 KCNH8 ENSG00000183960 Na Na Na Na Na Na Het;G>A 35;2|2 Ref Hom;G>A 165;0|5 N N - 3 194061826 194061826 C T snp nonsynonymous SNV G1606A V536M aliphatic,hydrophobic,neutral hydrophobic,neutral CPN2 Cpn2 ENSG00000178772 carboxypeptidase N subunit 2 chr3:194060494-194072057 Regulation of Complement cascade GO:0030449;regulation of complement activation;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:0050821;protein stabilization;NAS GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004181;metallocarboxypeptidase activity;TAS|GO:0030234;enzyme regulator activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/CPN2 https://www.ncbi.nlm.nih.gov/omim/?term=603104 http://www.informatics.jax.org/searchtool/Search.do?query=CPN2&submit=Quick%0D%14229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN2 rs11711157 0.284545 0.2484 0.2944 0.38 5 13 exonic exonic exonic CPN2 CPN2 ENSG00000178772 nonsynonymous SNV nonsynonymous SNV unknown CPN2:NM_001080513:exon2:c.G1606A:p.V536M,CPN2:NM_001291988:exon2:c.G1606A:p.V536M, CPN2:uc003fts.3:exon2:c.G1606A:p.V536M,CPN2:uc021xix.1:exon1:c.G1606A:p.V536M, UNKNOWN Het;C>T 1179;65|53 Ref Hom;C>T 2578;0|98 N N - 3 194062519 194062519 C T snp nonsynonymous SNV G913A A305T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CPN2 Cpn2 ENSG00000178772 carboxypeptidase N subunit 2 chr3:194060494-194072057 Regulation of Complement cascade GO:0030449;regulation of complement activation;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:0050821;protein stabilization;NAS GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004181;metallocarboxypeptidase activity;TAS|GO:0030234;enzyme regulator activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/CPN2 https://www.ncbi.nlm.nih.gov/omim/?term=603104 http://www.informatics.jax.org/searchtool/Search.do?query=CPN2&submit=Quick%0D%14229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN2 rs3732477 0.366414 0.3258 0.3145 0.15 2 13 exonic exonic exonic CPN2 CPN2 ENSG00000178772 nonsynonymous SNV nonsynonymous SNV unknown CPN2:NM_001080513:exon2:c.G913A:p.A305T,CPN2:NM_001291988:exon2:c.G913A:p.A305T, CPN2:uc003fts.3:exon2:c.G913A:p.A305T,CPN2:uc021xix.1:exon1:c.G913A:p.A305T, UNKNOWN Het;C>T 1853;119|91 Ref Hom;C>T 5498;2|204 N N - 3 194063611 194063611 G A snp intronic CPN2 Cpn2 ENSG00000178772 carboxypeptidase N subunit 2 chr3:194060494-194072057 Regulation of Complement cascade GO:0030449;regulation of complement activation;TAS|GO:0050790;regulation of catalytic activity;IEA|GO:0050821;protein stabilization;NAS GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004181;metallocarboxypeptidase activity;TAS|GO:0030234;enzyme regulator activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/CPN2 https://www.ncbi.nlm.nih.gov/omim/?term=603104 http://www.informatics.jax.org/searchtool/Search.do?query=CPN2&submit=Quick%0D%14229ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN2 rs9857914 0.361422 0 0 1 0 0 intronic intronic intronic CPN2 CPN2 ENSG00000178772 Na Na Na Na Na Na Het;G>A 152;3|5 Ref Hom;G>A 135;0|4 N N - 3 195197958 195197958 C T snp intergenic ACAP2 Acap2 ENSG00000114331 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 chr3:194995465-195163807 GO:0036010;protein localization to endosome;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:1990090;cellular response to nerve growth factor stimulus;ISS GO:0005768;endosome;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA GO:0005096;GTPase activator activity;IEA|GO:0017137;Rab GTPase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACAP2 https://www.uniprot.org/uniprot/Q15057 https://www.ncbi.nlm.nih.gov/omim/?term=607766 http://www.informatics.jax.org/searchtool/Search.do?query=ACAP2&submit=Quick%0D%4452ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAP2 rs1873968 0.652356 0 0 1 0 0 intergenic intergenic intergenic ACAP2(dist=34141),MIR5692C1(dist=10687) ACAP2(dist=34141),MIR5692C1(dist=10687) ENSG00000114331(dist=34151),ENSG00000184203(dist=43263) Na Na Na Na Na Na Het;C>T 110;4|6 Ref Hom;C>T 98;0|4 N N - 3 195295661 195295661 C T snp UTR3 *110G>A APOD Apod ENSG00000189058 apolipoprotein D chr3:195295573-195311076 This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] Alzheimer's disease ; schizophrenia; Alzheimer's Disease; Aging/ Telomere Length; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; plasma HDL-C levels; lipids; cognitive trait; diabetes, type 2 Mice homozygous for one null allele display increased sensitivity to reactive oxygen species, impaired motor and spatial learning, and decreased vertical and horizontal activity. Transport of fatty acids GO:0000302;response to reactive oxygen species;IDA|GO:0001525;angiogenesis;NAS|GO:0006006;glucose metabolic process;IDA|GO:0006629;lipid metabolic process;IDA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007420;brain development;ISS|GO:0007568;aging;NAS|GO:0010642;negative regulation of platelet-derived growth factor receptor signaling pathway;IDA|GO:0014012;peripheral nervous system axon regeneration;ISS|GO:0042246;tissue regeneration;ISS|GO:0042308;negative regulation of protein import into nucleus;IDA|GO:0042493;response to drug;ISS|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0048678;response to axon injury;ISS|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0060588;negative regulation of lipoprotein lipid oxidation;IDA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IDA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IDA|GO:2000098;negative regulation of smooth muscle cell-matrix adhesion;IMP|GO:2000405;negative regulation of T cell migration;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0022626;cytosolic ribosome;ISS|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0036094;small molecule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOD https://www.ncbi.nlm.nih.gov/omim/?term=107740 http://www.informatics.jax.org/searchtool/Search.do?query=APOD&submit=Quick%0D%16172ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOD rs7659 0.459065 0 0 1 0 0 UTR3 UTR3 UTR3 APOD(NM_001647:c.*110G>A) APOD(uc003fur.2:c.*110G>A) ENSG00000189058(ENST00000343267:c.*110G>A,ENST00000458447:c.*475G>A) Na Na Na Na Na Na Het;C>T 38;3|2 Ref Hom;C>T 114;0|4 N N - 3 195295704 195295704 G GC indel UTR3 *67C>GC APOD Apod ENSG00000189058 apolipoprotein D chr3:195295573-195311076 This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] Alzheimer's disease ; schizophrenia; Alzheimer's Disease; Aging/ Telomere Length; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; plasma HDL-C levels; lipids; cognitive trait; diabetes, type 2 Mice homozygous for one null allele display increased sensitivity to reactive oxygen species, impaired motor and spatial learning, and decreased vertical and horizontal activity. Transport of fatty acids GO:0000302;response to reactive oxygen species;IDA|GO:0001525;angiogenesis;NAS|GO:0006006;glucose metabolic process;IDA|GO:0006629;lipid metabolic process;IDA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007420;brain development;ISS|GO:0007568;aging;NAS|GO:0010642;negative regulation of platelet-derived growth factor receptor signaling pathway;IDA|GO:0014012;peripheral nervous system axon regeneration;ISS|GO:0042246;tissue regeneration;ISS|GO:0042308;negative regulation of protein import into nucleus;IDA|GO:0042493;response to drug;ISS|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0048678;response to axon injury;ISS|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0060588;negative regulation of lipoprotein lipid oxidation;IDA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IDA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IDA|GO:2000098;negative regulation of smooth muscle cell-matrix adhesion;IMP|GO:2000405;negative regulation of T cell migration;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0022626;cytosolic ribosome;ISS|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0036094;small molecule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOD https://www.ncbi.nlm.nih.gov/omim/?term=107740 http://www.informatics.jax.org/searchtool/Search.do?query=APOD&submit=Quick%0D%16172ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOD rs369497400 0 0 0 1 0 0 UTR3 UTR3 UTR3 APOD(NM_001647:c.*67C>GC) APOD(uc003fur.2:c.*67C>GC) ENSG00000189058(ENST00000343267:c.*67C>GC,ENST00000458447:c.*432C>GC) Na Na Na Na Na Na Het;+C 187;4|6 Ref Hom;+C 233;0|6 N N - 3 195300676 195300676 A G snp intronic APOD Apod ENSG00000189058 apolipoprotein D chr3:195295573-195311076 This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] Alzheimer's disease ; schizophrenia; Alzheimer's Disease; Aging/ Telomere Length; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; plasma HDL-C levels; lipids; cognitive trait; diabetes, type 2 Mice homozygous for one null allele display increased sensitivity to reactive oxygen species, impaired motor and spatial learning, and decreased vertical and horizontal activity. Transport of fatty acids GO:0000302;response to reactive oxygen species;IDA|GO:0001525;angiogenesis;NAS|GO:0006006;glucose metabolic process;IDA|GO:0006629;lipid metabolic process;IDA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007420;brain development;ISS|GO:0007568;aging;NAS|GO:0010642;negative regulation of platelet-derived growth factor receptor signaling pathway;IDA|GO:0014012;peripheral nervous system axon regeneration;ISS|GO:0042246;tissue regeneration;ISS|GO:0042308;negative regulation of protein import into nucleus;IDA|GO:0042493;response to drug;ISS|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0048678;response to axon injury;ISS|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0060588;negative regulation of lipoprotein lipid oxidation;IDA|GO:0071638;negative regulation of monocyte chemotactic protein-1 production;IDA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IDA|GO:2000098;negative regulation of smooth muscle cell-matrix adhesion;IMP|GO:2000405;negative regulation of T cell migration;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;ISS|GO:0022626;cytosolic ribosome;ISS|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005319;lipid transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0036094;small molecule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOD https://www.ncbi.nlm.nih.gov/omim/?term=107740 http://www.informatics.jax.org/searchtool/Search.do?query=APOD&submit=Quick%0D%16172ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOD rs1568566 0.872404 0.8824 0.8359 1 0 0 intronic intronic intronic APOD APOD ENSG00000189058 Na Na Na Na Na Na Het;A>G 612;22|25 Ref Hom;A>G 1062;0|36 N N - 3 195341037 195341037 G A snp upstream MUC20P1 rs869984 0.616214 0 0 1 0 0 intergenic intergenic upstream APOD(dist=29961),SDHAP2(dist=43873) APOD(dist=29961),BC044310(dist=29767) ENSG00000224769 Na Na Na Na Na Na Het;G>A 170;5|6 Ref Hom;G>A 159;0|5 N N - 3 195341133 195341133 T C snp upstream MUC20P1 rs869982 0.616214 0 0 1 0 0 intergenic intergenic upstream APOD(dist=30057),SDHAP2(dist=43777) APOD(dist=30057),BC044310(dist=29671) ENSG00000224769 Na Na Na Na Na Na Het;T>C 751;34|21 Ref Hom;T>C 2547;0|55 N N - 3 195341134 195341134 G A snp upstream MUC20P1 rs869983 0.616014 0 0 1 0 0 intergenic intergenic upstream APOD(dist=30058),SDHAP2(dist=43776) APOD(dist=30058),BC044310(dist=29670) ENSG00000224769 Na Na Na Na Na Na Het;G>A 751;34|21 Ref Hom;G>A 2547;0|59 N N - 3 195341402 195341402 A T snp upstream MUC20P1 rs1815044 0.864417 0 0 1 0 0 intergenic intergenic upstream APOD(dist=30326),SDHAP2(dist=43508) APOD(dist=30326),BC044310(dist=29402) ENSG00000224769 Na Na Na Na Na Na Het;A>T 70;2|3 Ref Hom;A>T 123;0|4 N N - 3 195345828 195345828 A G snp ncRNA_exonic MUC20P1 rs2550229 0.753794 0 0.6221 1 0 0 intergenic intergenic ncRNA_exonic APOD(dist=34752),SDHAP2(dist=39082) APOD(dist=34752),BC044310(dist=24976) ENSG00000224769 Na Na Na Na Na Na Het;A>G 5278;99|135 Ref Hom;A>G 11060;0|246 N N - 3 195345829 195345829 G A snp ncRNA_exonic MUC20P1 rs147830733 0.754992 0 0.6229 1 0 0 intergenic intergenic ncRNA_exonic APOD(dist=34753),SDHAP2(dist=39081) APOD(dist=34753),BC044310(dist=24975) ENSG00000224769 Na Na Na Na Na Na Het;G>A 5278;99|134 Ref Hom;G>A 11060;0|248 N N - 3 195347127 195347127 G A snp downstream MUC20P1 rs3988246 0.827077 0 0 1 0 0 intergenic intergenic downstream APOD(dist=36051),SDHAP2(dist=37783) APOD(dist=36051),BC044310(dist=23677) ENSG00000224769 Na Na Na Na Na Na Het;G>A 2091;69|81 Ref Hom;G>A 4427;0|157 N N - 3 195366810 195366810 G C snp upstream ENSG00000272792 rs139479357 0.842053 0 0 1 0 0 intergenic intergenic upstream APOD(dist=55734),SDHAP2(dist=18100) APOD(dist=55734),BC044310(dist=3994) ENSG00000272792 Na Na Na Na Na Na Het;G>C 1826;17|61 Ref Hom;G>C 3412;0|88 N N - 3 195366853 195366853 G A snp upstream ENSG00000272792 rs376777006 0.435903 0 0 1 0 0 intergenic intergenic upstream APOD(dist=55777),SDHAP2(dist=18057) APOD(dist=55777),BC044310(dist=3951) ENSG00000272792 Na Na Na Na Na Na Het;G>A 569;32|23 Ref Hom;G>A 1421;0|52 N N - 3 195375928 195375928 C T snp ncRNA_exonic BC053580 rs375491305 0.609625 0 0 1 0 0 intergenic ncRNA_exonic intergenic APOD(dist=64852),SDHAP2(dist=8982) BC053580 ENSG00000272792(dist=8597),ENSG00000271662(dist=1089) Na Na Na Na Na Na Het;C>T 117;8|6 Ref Hom;C>T 151;0|5 N N - 3 195384760 195384760 G C snp ncRNA_exonic AC233280.1 rs7646593 0.579872 0 0 1 0 0 upstream upstream ncRNA_exonic SDHAP2 SDHAP2 ENSG00000229178 Na Na Na Na Na Na Het;G>C 344;5|11 Ref Hom;G>C 429;0|11 N N - 3 195384844 195384844 T G snp upstream SDHAP2 rs2688454 0.713858 0 0 1 0 0 upstream upstream upstream SDHAP2 SDHAP2 ENSG00000215837,ENSG00000229178,ENSG00000242086 Na Na Na Na Na Na Het;T>G 918;15|35 Ref Hom;T>G 1233;0|41 N N - 3 195397908 195397908 T A snp ncRNA_intronic SDHAP2 rs4927770 0.397764 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic SDHAP2 SDHAP2 ENSG00000215837,ENSG00000242086 Na Na Na Na Na Na Het;T>A 1866;72|76 Ref Hom;T>A 3194;1|104 N N - 3 195410520 195410520 G A snp ncRNA_intronic SDHAP2 rs6805893 0.66274 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic SDHAP2 SDHAP2(dist=9662),MIR570(dist=15752) ENSG00000215837,ENSG00000242086 Na Na Na Na Na Na Het;G>A 1113;20|40 Het;G>A 609;27|25 Hom;G>A 730;0|25 N N - 3 195426108 195426149 ATGGGCCAAGTGTCCTGGAACCCTGGGGTGGTGATGTAGTTG A indel upstream AK128346 rs760614244 0 0 0 1 0 0 ncRNA_intronic upstream ncRNA_intronic LINC00969 AK128346,BC144457,MIR570 ENSG00000242086 Na Na Na Na Na Na Het;-TGGGCCAAGTGTCCTGGAACCCTGGGGTGGTGATGTAGTTG 565;21|16 Ref Hom;-TGGGCCAAGTGTCCTGGAACCCTGGGGTGGTGATGTAGTTG 2318;0|53 N N - 3 195434956 195434956 T C snp ncRNA_intronic AK128346 rs2098732 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00969 AK128346,BC144457 ENSG00000242086 Na Na Na Na Na Na Het;T>C 456;11|18 Ref Hom;T>C 939;0|31 N N - 3 195438443 195438443 T C snp ncRNA_exonic LINC00969 rs2688480 0.226438 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00969 AK128346 ENSG00000242086 Na Na Na Na Na Na Het;T>C 1816;30|69 Het;T>C 1061;42|41 Hom;T>C 2905;0|95 N N - 3 195438480 195438480 A C snp ncRNA_exonic LINC00969 rs2641761 0.0563099 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00969 AK128346 ENSG00000242086 Na Na Na Na Na Na Het;A>C 4077;56|117 Het;A>C 2299;86|78 Hom;A>C 6453;0|181 N N - 3 195448129 195448129 T TGTGA indel ncRNA_intronic LINC00969 rs10645654 0.436701 0 0 1 0 0 intronic intronic ncRNA_intronic MUC20 MUC20 ENSG00000242086 Na Na Na Na Na Na Het;+GTGA 251;2|7 Ref Hom;+GTGA 188;0|5 N N - 3 195451880 195451880 A G snp nonsynonymous SNV A406G R136G polar,hydrophilic,charged(+) aliphatic,neutral MUC20 Muc20 ENSG00000281630 mucin 20, cell surface associated chr3:195447753-195467994 This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] nephropathy, IgA GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC20 https://www.ncbi.nlm.nih.gov/omim/?term=610360 http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20 rs142096782 0.755391 0 0.7885 0.08 1 13 exonic exonic exonic MUC20 MUC20 ENSG00000176945 nonsynonymous SNV nonsynonymous SNV unknown MUC20:NM_001282506:exon2:c.A406G:p.R136G,MUC20:NM_001291833:exon2:c.A406G:p.R136G,MUC20:NM_152673:exon2:c.A406G:p.R136G,MUC20:NM_020790:exon2:c.A406G:p.R136G, MUC20:uc010hzo.3:exon2:c.A406G:p.R136G,MUC20:uc010hzp.3:exon1:c.A301G:p.R101G, UNKNOWN Het;A>G 7254;101|182 Het;A>G 2179;226|69 Hom;A>G 8848;0|198 N N - 3 195451881 195451881 G A snp nonsynonymous SNV G407A R136K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MUC20 Muc20 ENSG00000281630 mucin 20, cell surface associated chr3:195447753-195467994 This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] nephropathy, IgA GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC20 https://www.ncbi.nlm.nih.gov/omim/?term=610360 http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20 rs2550230 0.780551 0 0.7958 0.08 1 13 exonic exonic exonic MUC20 MUC20 ENSG00000176945 nonsynonymous SNV nonsynonymous SNV unknown MUC20:NM_001282506:exon2:c.G407A:p.R136K,MUC20:NM_001291833:exon2:c.G407A:p.R136K,MUC20:NM_152673:exon2:c.G407A:p.R136K,MUC20:NM_020790:exon2:c.G407A:p.R136K, MUC20:uc010hzo.3:exon2:c.G407A:p.R136K,MUC20:uc010hzp.3:exon1:c.G302A:p.R101K, UNKNOWN Het;G>A 7254;101|181 Het;G>A 2179;226|69 Hom;G>A 8848;0|198 N N - 3 195452770 195452770 G A snp synonymous SNV G1296A T432T polar,hydrophilic,neutral polar,hydrophilic,neutral MUC20 Muc20 ENSG00000281630 mucin 20, cell surface associated chr3:195447753-195467994 This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] nephropathy, IgA GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC20 https://www.ncbi.nlm.nih.gov/omim/?term=610360 http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20 rs2550231 0 0 0.4134 1 0 0 exonic exonic exonic MUC20 MUC20 ENSG00000176945 synonymous SNV synonymous SNV unknown MUC20:NM_001282506:exon2:c.G1296A:p.T432T,MUC20:NM_001291833:exon4:c.G783A:p.T261T,MUC20:NM_152673:exon4:c.G783A:p.T261T,MUC20:NM_020790:exon4:c.G840A:p.T280T, MUC20:uc010hzo.3:exon3:c.G783A:p.T261T,MUC20:uc010hzp.3:exon2:c.G678A:p.T226T, UNKNOWN Het;G>A 1854;125|54 Ref Hom;G>A 3627;1|78 N N - 3 195452799 195452799 C T snp nonsynonymous SNV C812T T271I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC20 Muc20 ENSG00000281630 mucin 20, cell surface associated chr3:195447753-195467994 This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] nephropathy, IgA GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC20 https://www.ncbi.nlm.nih.gov/omim/?term=610360 http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20 rs2550232 0 0 0.4024 0.08 1 13 exonic exonic exonic MUC20 MUC20 ENSG00000176945 nonsynonymous SNV nonsynonymous SNV unknown MUC20:NM_001282506:exon2:c.C1325T:p.T442I,MUC20:NM_001291833:exon4:c.C812T:p.T271I,MUC20:NM_152673:exon4:c.C812T:p.T271I,MUC20:NM_020790:exon4:c.C869T:p.T290I, MUC20:uc010hzo.3:exon3:c.C812T:p.T271I,MUC20:uc010hzp.3:exon2:c.C707T:p.T236I, UNKNOWN Het;C>T 2255;173|76 Ref Hom;C>T 5336;3|147 N N - 3 195452951 195452951 G C snp nonsynonymous SNV G964C D322H polar,hydrophilic,charged(-) aromatic,polar,hydrophilic,charged(+) MUC20 Muc20 ENSG00000281630 mucin 20, cell surface associated chr3:195447753-195467994 This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] nephropathy, IgA GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC20 https://www.ncbi.nlm.nih.gov/omim/?term=610360 http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20 rs2688542 0 0 0.6086 0.23 3 13 exonic exonic exonic MUC20 MUC20 ENSG00000176945 nonsynonymous SNV nonsynonymous SNV unknown MUC20:NM_001282506:exon2:c.G1477C:p.D493H,MUC20:NM_001291833:exon4:c.G964C:p.D322H,MUC20:NM_152673:exon4:c.G964C:p.D322H,MUC20:NM_020790:exon4:c.G1021C:p.D341H, MUC20:uc010hzo.3:exon3:c.G964C:p.D322H,MUC20:uc010hzp.3:exon2:c.G859C:p.D287H, UNKNOWN Het;G>C 3832;312|181 Ref Hom;G>C 10676;3|377 N N - 3 195453064 195453064 T G snp synonymous SNV T1590G L530L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MUC20 Muc20 ENSG00000281630 mucin 20, cell surface associated chr3:195447753-195467994 This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] nephropathy, IgA GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC20 https://www.ncbi.nlm.nih.gov/omim/?term=610360 http://www.informatics.jax.org/searchtool/Search.do?query=MUC20&submit=Quick%0D%22322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC20 rs2550233 0 0.8837 0.8209 1 0 0 exonic exonic exonic MUC20 MUC20 ENSG00000176945 synonymous SNV synonymous SNV unknown MUC20:NM_001282506:exon2:c.T1590G:p.L530L,MUC20:NM_001291833:exon4:c.T1077G:p.L359L,MUC20:NM_152673:exon4:c.T1077G:p.L359L,MUC20:NM_020790:exon4:c.T1134G:p.L378L, MUC20:uc010hzo.3:exon3:c.T1077G:p.L359L,MUC20:uc010hzp.3:exon2:c.T972G:p.L324L, UNKNOWN Het;T>G 5248;124|205 Het;T>G 3633;193|159 Hom;T>G 5914;4|201 N N - 3 195453562 195453562 A C snp ncRNA_intronic LINC00969 rs2550234 0 0 0 1 0 0 intronic intronic ncRNA_intronic MUC20 MUC20 ENSG00000242086 Na Na Na Na Na Na Het;A>C 422;19|13 Ref Hom;A>C 734;0|18 N N - 3 195456708 195456708 G A snp ncRNA_intronic LINC00969 rs2550296 0 0 0 1 0 0 intronic intronic ncRNA_intronic MUC20 MUC20 ENSG00000242086 Na Na Na Na Na Na Het;G>A 94;12|7 Het;G>A 324;13|13 Hom;G>A 376;0|14 N N - 3 195460236 195460236 G A snp ncRNA_exonic LINC00969 rs712011 0.439896 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic MUC20(NM_001282506:c.*147G>A,NM_001291833:c.*147G>A,NM_020790:c.*147G>A,NM_152673:c.*147G>A) MUC20(uc010hzo.3:c.*147G>A,uc010hzp.3:c.*147G>A) ENSG00000242086 Na Na Na Na Na Na Het;G>A 137;6|5 Ref Hom;G>A 475;0|14 N N - 3 195476085 195476085 A G snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2688497 0.849042 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;A>G 566;6|16 Het;A>G 225;16|9 Hom;A>G 293;0|8 N N - 3 195477791 195477791 G A snp synonymous SNV C3132T I1044I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2291652 0.40615 0.3482 0.4432 1 0 0 exonic exonic exonic MUC4 MUC4 ENSG00000145113 synonymous SNV synonymous SNV unknown MUC4:NM_004532:exon22:c.C3132T:p.I1044I,MUC4:NM_138297:exon21:c.C2979T:p.I993I,MUC4:NM_018406:exon23:c.C15840T:p.I5280I, MUC4:uc021xjm.1:exon22:c.C2367T:p.I789I,MUC4:uc010hzq.3:exon4:c.C411T:p.I137I,MUC4:uc003fvb.3:exon21:c.C2388T:p.I796I,MUC4:uc021xjg.1:exon22:c.C2280T:p.I760I,MUC4:uc021xjn.1:exon22:c.C2907T:p.I969I,MUC4:uc021xjj.1:exon23:c.C2532T:p.I844I,MUC4:uc021xjl.1:exon23:c.C2280T:p.I760I,MUC4:uc003fuz.3:exon18:c.C2634T:p.I878I,MUC4:uc003fve.3:exon21:c.C2388T:p.I796I,MUC4:uc003fvp.3:exon21:c.C2979T:p.I993I,MUC4:uc003fva.3:exon22:c.C2280T:p.I760I,MUC4:uc021xjk.1:exon23:c.C3063T:p.I1021I,MUC4:uc021xji.1:exon23:c.C2532T:p.I844I,MUC4:uc021xjo.1:exon22:c.C2280T:p.I760I,MUC4:uc003fvo.3:exon22:c.C3132T:p.I1044I,MUC4:uc021xjp.1:exon23:c.C15840T:p.I5280I, UNKNOWN Het;G>A 712;47|38 Ref Hom;G>A 1805;2|69 N N - 3 195478012 195478012 G C snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2291651 0.823083 0.8909 0.8093 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;G>C 656;34|45 Ref Hom;G>C 1748;0|70 N N - 3 195479256 195479256 T C snp synonymous SNV A2862G E954E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2258447 0.812101 0.8375 0.8813 1 0 0 exonic exonic exonic MUC4 MUC4 ENSG00000145113 synonymous SNV synonymous SNV unknown MUC4:NM_004532:exon20:c.A2862G:p.E954E,MUC4:NM_138297:exon19:c.A2709G:p.E903E,MUC4:NM_018406:exon21:c.A15570G:p.E5190E, MUC4:uc021xjm.1:exon20:c.A2097G:p.E699E,MUC4:uc010hzq.3:exon2:c.A141G:p.E47E,MUC4:uc003fvb.3:exon19:c.A2118G:p.E706E,MUC4:uc021xjg.1:exon20:c.A2010G:p.E670E,MUC4:uc021xjn.1:exon20:c.A2637G:p.E879E,MUC4:uc021xjj.1:exon21:c.A2262G:p.E754E,MUC4:uc021xjl.1:exon21:c.A2010G:p.E670E,MUC4:uc003fuz.3:exon16:c.A2364G:p.E788E,MUC4:uc003fve.3:exon19:c.A2118G:p.E706E,MUC4:uc003fvp.3:exon19:c.A2709G:p.E903E,MUC4:uc003fva.3:exon20:c.A2010G:p.E670E,MUC4:uc021xjk.1:exon21:c.A2793G:p.E931E,MUC4:uc021xji.1:exon21:c.A2262G:p.E754E,MUC4:uc021xjo.1:exon20:c.A2010G:p.E670E,MUC4:uc003fvo.3:exon20:c.A2862G:p.E954E,MUC4:uc021xjp.1:exon21:c.A15570G:p.E5190E, UNKNOWN Het;T>C 959;43|45 Het;T>C 383;27|18 Hom;T>C 2074;0|76 N N - 3 195484244 195484244 G A snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550270 0.659345 0.7016 0.7522 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;G>A 326;18|16 Ref Hom;G>A 1050;0|35 N N - 3 195487737 195487737 A G snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2246771 0.691294 0.7171 0.6921 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;A>G 600;18|23 Ref Hom;A>G 600;0|23 N N - 3 195489009 195489009 C A snp nonsynonymous SNV G988T A330S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2246901 0.63099 0.6416 0.6823 0.38 5 13 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_004532:exon13:c.G1753T:p.A585S,MUC4:NM_138297:exon12:c.G1600T:p.A534S,MUC4:NM_018406:exon14:c.G14461T:p.A4821S, MUC4:uc021xjm.1:exon13:c.G988T:p.A330S,MUC4:uc003fvb.3:exon12:c.G1009T:p.A337S,MUC4:uc021xjg.1:exon13:c.G901T:p.A301S,MUC4:uc021xjn.1:exon13:c.G1528T:p.A510S,MUC4:uc021xjj.1:exon14:c.G1153T:p.A385S,MUC4:uc021xjl.1:exon14:c.G901T:p.A301S,MUC4:uc003fuz.3:exon9:c.G1255T:p.A419S,MUC4:uc003fve.3:exon12:c.G1009T:p.A337S,MUC4:uc003fvp.3:exon12:c.G1600T:p.A534S,MUC4:uc003fva.3:exon13:c.G901T:p.A301S,MUC4:uc021xjk.1:exon14:c.G1684T:p.A562S,MUC4:uc021xji.1:exon14:c.G1153T:p.A385S,MUC4:uc021xjo.1:exon13:c.G901T:p.A301S,MUC4:uc003fvo.3:exon13:c.G1753T:p.A585S,MUC4:uc021xjp.1:exon14:c.G14461T:p.A4821S, UNKNOWN Het;C>A 472;22|26 Ref Hom;C>A 1323;0|48 N N - 3 195489067 195489067 C G snp synonymous SNV G1695C S565S polar,hydrophilic,neutral polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2246980 0.424321 0.3730 0.4927 1 0 0 exonic exonic exonic MUC4 MUC4 ENSG00000145113 synonymous SNV synonymous SNV unknown MUC4:NM_004532:exon13:c.G1695C:p.S565S,MUC4:NM_138297:exon12:c.G1542C:p.S514S,MUC4:NM_018406:exon14:c.G14403C:p.S4801S, MUC4:uc021xjm.1:exon13:c.G930C:p.S310S,MUC4:uc003fvb.3:exon12:c.G951C:p.S317S,MUC4:uc021xjg.1:exon13:c.G843C:p.S281S,MUC4:uc021xjn.1:exon13:c.G1470C:p.S490S,MUC4:uc021xjj.1:exon14:c.G1095C:p.S365S,MUC4:uc021xjl.1:exon14:c.G843C:p.S281S,MUC4:uc003fuz.3:exon9:c.G1197C:p.S399S,MUC4:uc003fve.3:exon12:c.G951C:p.S317S,MUC4:uc003fvp.3:exon12:c.G1542C:p.S514S,MUC4:uc003fva.3:exon13:c.G843C:p.S281S,MUC4:uc021xjk.1:exon14:c.G1626C:p.S542S,MUC4:uc021xji.1:exon14:c.G1095C:p.S365S,MUC4:uc021xjo.1:exon13:c.G843C:p.S281S,MUC4:uc003fvo.3:exon13:c.G1695C:p.S565S,MUC4:uc021xjp.1:exon14:c.G14403C:p.S4801S, UNKNOWN Het;C>G 568;23|28 Ref Hom;C>G 1536;0|57 N N - 3 195489669 195489669 C T snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550263 0.590256 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;C>T 190;5|7 Ref Hom;C>T 161;0|7 N N - 3 195490144 195490144 C A snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550262 0.591454 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;C>A 82;2|4 Ref Hom;C>A 247;0|10 N N - 3 195490284 195490284 T C snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550261 0.660942 0.7015 0.6936 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;T>C 584;26|24 Ref Hom;T>C 1094;0|34 N N - 3 195490838 195490841 ATCC A indel intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs560466806 0.317692 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;-TCC 143;10|5 Ref Hom;-TCC 323;0|8 N N - 3 195490842 195490846 AGATG A indel intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs34858176 0.317692 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;-GATG 143;10|5 Ref Hom;-GATG 323;0|8 N N - 3 195495916 195495916 G C snp nonsynonymous SNV C33G N11K polar,hydrophilic,neutral polar,hydrophilic,charged(+) MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550240 0.428714 0.3588 0.4455 0.38 5 13 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_004532:exon6:c.C798G:p.N266K,MUC4:NM_138297:exon5:c.C645G:p.N215K,MUC4:NM_018406:exon7:c.C13506G:p.N4502K, MUC4:uc021xjm.1:exon6:c.C33G:p.N11K,MUC4:uc003fvb.3:exon6:c.C143G:p.T48S,MUC4:uc021xjn.1:exon6:c.C573G:p.N191K,MUC4:uc021xjj.1:exon7:c.C198G:p.N66K,MUC4:uc003fuz.3:exon3:c.C389G:p.T130S,MUC4:uc003fve.3:exon6:c.C143G:p.T48S,MUC4:uc003fvp.3:exon5:c.C645G:p.N215K,MUC4:uc021xjk.1:exon7:c.C729G:p.N243K,MUC4:uc021xji.1:exon7:c.C198G:p.N66K,MUC4:uc003fvo.3:exon6:c.C798G:p.N266K,MUC4:uc021xjp.1:exon7:c.C13506G:p.N4502K, UNKNOWN Het;G>C 1118;67|47 Ref Hom;G>C 2940;0|104 N N - 3 195496129 195496129 C T snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2688492 0.634784 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;C>T 205;10|9 Ref Hom;C>T 391;0|11 N N - 3 195497174 195497174 C G snp nonsynonymous SNV G3C M1I hydrophobic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2259102 0.828275 0.8714 0.7996 0.08 1 13 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I, MUC4:uc021xjj.1:exon6:c.G3C:p.M1I,MUC4:uc003fvp.3:exon4:c.G450C:p.M150I,MUC4:uc021xjk.1:exon6:c.G534C:p.M178I,MUC4:uc021xji.1:exon6:c.G3C:p.M1I,MUC4:uc003fvo.3:exon5:c.G603C:p.M201I,MUC4:uc021xjp.1:exon6:c.G13311C:p.M4437I, UNKNOWN Het;C>G 1297;42|55 Ref Hom;C>G 2492;0|92 N N - 3 195498859 195498859 T A snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2641779 0.82508 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;T>A 238;5|8 Ref Hom;T>A 255;0|8 N N - 3 195501149 195501149 C T snp nonsynonymous SNV G194A G65D aliphatic,neutral polar,hydrophilic,charged(-) MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2259292 0.586262 0.5823 0.5856 0.15 2 13 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_004532:exon3:c.G263A:p.G88D,MUC4:NM_138297:exon2:c.G110A:p.G37D,MUC4:NM_018406:exon4:c.G12971A:p.G4324D, MUC4:uc021xjn.1:exon4:c.G194A:p.G65D,MUC4:uc003fuz.3:exon1:c.G10A:p.A4T,MUC4:uc003fvp.3:exon2:c.G110A:p.G37D,MUC4:uc021xjk.1:exon4:c.G194A:p.G65D,MUC4:uc003fvo.3:exon3:c.G263A:p.G88D,MUC4:uc021xjp.1:exon4:c.G12971A:p.G4324D, UNKNOWN Het;C>T 1358;42|58 Ref Hom;C>T 3278;0|126 N N - 3 195501258 195501258 T C snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2259331 0.699081 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;T>C 271;18|12 Ref Hom;T>C 706;0|26 N N - 3 195505072 195505072 C T snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550252 0.261781 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;C>T 779;25|22 Ref Hom;C>T 1096;0|25 N N - 3 195505091 195505091 G A snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2688512 0.677316 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;G>A 742;31|22 Ref Hom;G>A 1340;0|34 N N - 3 195505417 195505417 G A snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2259419 0.504393 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;G>A 538;21|21 Ref Hom;G>A 1060;0|34 N N - 3 195505664 195505664 G A snp nonsynonymous SNV C10T P4S hydrophobic,neutral polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2688513 0.789537 0.8743 0.8052 0.08 1 12 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.C12787T:p.P4263S, MUC4:uc021xjn.1:exon2:c.C10T:p.P4S,MUC4:uc021xjk.1:exon2:c.C10T:p.P4S,MUC4:uc021xjp.1:exon2:c.C12787T:p.P4263S, UNKNOWN Het;G>A 1153;57|52 Ref Hom;G>A 3275;0|124 N N - 3 195506037 195506037 G T snp synonymous SNV C12414A S4138S polar,hydrophilic,neutral polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2432527 0 0 0.5432 1 0 0 exonic exonic exonic MUC4 MUC4 ENSG00000145113 synonymous SNV synonymous SNV unknown MUC4:NM_018406:exon2:c.C12414A:p.S4138S, MUC4:uc021xjp.1:exon2:c.C12414A:p.S4138S, UNKNOWN Het;G>T 49;1|3 Ref Hom;G>T 87;0|4 N N - 3 195516630 195516630 G T snp synonymous SNV C1821A S607S polar,hydrophilic,neutral polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs3103954 0.82528 0.8730 0.7973 1 0 0 exonic exonic exonic MUC4 MUC4 ENSG00000145113 synonymous SNV synonymous SNV unknown MUC4:NM_018406:exon2:c.C1821A:p.S607S, MUC4:uc021xjp.1:exon2:c.C1821A:p.S607S,MUC4:uc021xjq.1:exon1:c.C1467A:p.S489S, UNKNOWN Het;G>T 2951;168|133 Ref Hom;G>T 6392;2|238 N N - 3 195516878 195516878 T C snp nonsynonymous SNV A1573G T525A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2177336 0.772165 0.8235 0.7806 0.08 1 12 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.A1573G:p.T525A, MUC4:uc021xjp.1:exon2:c.A1573G:p.T525A,MUC4:uc021xjq.1:exon1:c.A1219G:p.T407A, UNKNOWN Het;T>C 1907;125|79 Ref Hom;T>C 3551;0|128 N N - 3 195517258 195517258 G A snp nonsynonymous SNV C1193T T398I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs1106502 0.772364 0.8246 0.7807 0.09 1 11 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.C1193T:p.T398I, MUC4:uc021xjp.1:exon2:c.C1193T:p.T398I,MUC4:uc021xjq.1:exon1:c.C839T:p.T280I, UNKNOWN Het;G>A 2026;116|89 Ref Hom;G>A 3671;6|136 N N - 3 195517321 195517321 G A snp nonsynonymous SNV C1130T T377I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs1104760 0.772165 0.8244 0.7805 0.09 1 11 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.C1130T:p.T377I, MUC4:uc021xjp.1:exon2:c.C1130T:p.T377I,MUC4:uc021xjq.1:exon1:c.C776T:p.T259I, UNKNOWN Het;G>A 2618;128|123 Ref Hom;G>A 4717;2|175 N N - 3 195517553 195517553 A C snp nonsynonymous SNV T898G F300V aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs882605 0.773762 0.8261 0.7809 0.09 1 11 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.T898G:p.F300V, MUC4:uc021xjp.1:exon2:c.T898G:p.F300V,MUC4:uc021xjq.1:exon1:c.T544G:p.F182V, UNKNOWN Het;A>C 2641;103|110 Ref Hom;A>C 5757;0|194 N N - 3 195518112 195518112 T TGTCTCCTGCGTAACA indel nonframeshift substitution 339_339delinsTGTTACGCAGGAGACA MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs142781032 0.728634 0.7477 0.7527 1 0 0 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonframeshift substitution nonframeshift substitution unknown MUC4:NM_018406:exon2:c.339_339delinsTGTTACGCAGGAGACA, MUC4:uc021xjp.1:exon2:c.339_339delinsTGTTACGCAGGAGACA, UNKNOWN Het;+GTCTCCTGCGTAACA 3431;99|85 Ref Hom;+GTCTCCTGCGTAACA 7511;0|156 N N - 3 195518330 195518330 C G snp nonsynonymous SNV G121C A41P aliphatic,hydrophobic,neutral hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs3107764 0.504593 0.5141 0.5769 0.08 1 12 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.G121C:p.A41P, MUC4:uc021xjp.1:exon2:c.G121C:p.A41P, UNKNOWN Het;C>G 783;61|31 Ref Hom;C>G 2456;0|79 N N - 3 195537400 195537400 A G snp intronic MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs842457 0.562899 0 0 1 0 0 intronic intronic intronic MUC4 MUC4 ENSG00000145113 Na Na Na Na Na Na Het;A>G 72;5|4 Ref Hom;A>G 103;0|4 N N - 3 195787308 195787308 C G snp intronic TFRC Tfrc ENSG00000072274 transferrin receptor chr3:195754054-195809060 This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015] leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. Transferrin endocytosis and recycling GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TFRC https://www.uniprot.org/uniprot/P02786 https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190010 http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC rs9846149 0.361422 0 0 1 0 0 intronic intronic intronic TFRC TFRC ENSG00000072274 Na Na Na Na Na Na Het;C>G 84;2|3 Het;C>G 127;1|4 Hom;C>G 100;0|3 N N - 3 195789414 195789414 T C snp intronic TFRC Tfrc ENSG00000072274 transferrin receptor chr3:195754054-195809060 This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015] leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. Transferrin endocytosis and recycling GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TFRC https://www.uniprot.org/uniprot/P02786 https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190010 http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC rs2239641 0.362021 0.4974 0.5037 1 0 0 intronic intronic intronic TFRC TFRC ENSG00000072274 Na Na Na Na Na Na Het;T>C 500;28|19 Het;T>C 563;17|24 Hom;T>C 1049;2|39 N N - 3 195789428 195789428 C A snp intronic TFRC Tfrc ENSG00000072274 transferrin receptor chr3:195754054-195809060 This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015] leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. Transferrin endocytosis and recycling GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TFRC https://www.uniprot.org/uniprot/P02786 https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190010 http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC rs507131 0.65615 0.8179 0.8239 1 0 0 intronic intronic intronic TFRC TFRC ENSG00000072274 Na Na Na Na Na Na Het;C>A 522;35|23 Het;C>A 697;16|31 Hom;C>A 1660;0|62 N N - 3 195789708 195789708 G T snp intronic TFRC Tfrc ENSG00000072274 transferrin receptor chr3:195754054-195809060 This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015] leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. Transferrin endocytosis and recycling GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TFRC https://www.uniprot.org/uniprot/P02786 https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190010 http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC rs2239640 0.361422 0.4971 0.5032 1 0 0 intronic intronic intronic TFRC TFRC ENSG00000072274 Na Na Na Na Na Na Het;G>T 568;22|25 Het;G>T 815;26|36 Hom;G>T 1463;0|55 N N - 3 195798522 195798522 C T snp intronic TFRC Tfrc ENSG00000072274 transferrin receptor chr3:195754054-195809060 This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015] leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. Transferrin endocytosis and recycling GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TFRC https://www.uniprot.org/uniprot/P02786 https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190010 http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC rs9990392 0.354633 0 0 1 0 0 intronic intronic intronic TFRC TFRC ENSG00000072274 Na Na Na Na Na Na Het;C>T 136;5|5 Het;C>T 183;2|6 Hom;C>T 121;0|4 N N - 3 195800811 195800811 C T snp nonsynonymous SNV G181A G61S aliphatic,neutral polar,hydrophilic,neutral TFRC Tfrc ENSG00000072274 transferrin receptor chr3:195754054-195809060 This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015] leukemia; hemochromatosis; iron metabolism; chronic obstructive pulmonary disease; hepatitis C; lung cancer; mean corpuscular volume; mean corpuscular hemoglobin; bladder cancer; cirrhosis; hepatocellular carcinoma; colorectal cancer; breast cancer; Abortion, Spontaneous; Iron Overload|Myeloproliferative Disorders; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; porphyria cutanea tarda; Hemochromatosis|Leukemia; Hyperparathyroidism, Secondary; Type 2 diabetes; IgA nephropathy; lung cancer ; Birth Weight|Hemochromatosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Pregnancy Complications Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. Transferrin endocytosis and recycling GO:0006879;cellular iron ion homeostasis;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0016032;viral process;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0031623;receptor internalization;IDA|GO:0033572;transferrin transport;IEA|GO:0035690;cellular response to drug;IDA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045830;positive regulation of isotype switching;IDA|GO:0046718;viral entry into host cell;IEA|GO:0061024;membrane organization;TAS|GO:0097286;iron ion import;IDA GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IGI|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1903561;extracellular vesicle;IDA|GO:1990712;HFE-transferrin receptor complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0004998;transferrin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0033570;transferrin transmembrane transporter activity;IDA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TFRC https://www.uniprot.org/uniprot/P02786 https://hpo.jax.org/app/browse/search?q=TFRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190010 http://www.informatics.jax.org/searchtool/Search.do?query=TFRC&submit=Quick%0D%1429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFRC rs3817672 0.30631 0.4380 0.4470 0.08 1 13 exonic exonic exonic TFRC TFRC ENSG00000072274 nonsynonymous SNV nonsynonymous SNV unknown TFRC:NM_003234:exon4:c.G424A:p.G142S,TFRC:NM_001128148:exon4:c.G424A:p.G142S, TFRC:uc010hzy.3:exon3:c.G181A:p.G61S,TFRC:uc003fwa.4:exon4:c.G424A:p.G142S,TFRC:uc003fvz.4:exon4:c.G424A:p.G142S, UNKNOWN Het;C>T 455;31|21 Het;C>T 643;11|27 Hom;C>T 1314;0|43 N N - 3 195943481 195943481 C T snp UTR5 -103C>T SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs56030157 0.211262 0 0.2407 1 0 0 UTR5 UTR5 UTR5 SLC51A(NM_152672:c.-103C>T) SLC51A(uc011btu.1:c.-103C>T,uc003fwd.3:c.-103C>T) ENSG00000163959(ENST00000296327:c.-103C>T,ENST00000442203:c.-103C>T) Na Na Na Na Na Na Het;C>T 262;15|13 Ref Hom;C>T 584;0|22 N N - 3 195953775 195953775 C T snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs68119320 0.462859 0 0 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;C>T 473;26|20 Ref Hom;C>T 1277;0|44 N N - 3 195954069 195954069 A ACGTCACTTC indel UTR3 *43A>ACGTCACTTC SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs147316733 0 0 0.3864 1 0 0 intronic UTR3 intronic SLC51A SLC51A(uc011btu.1:c.*43A>ACGTCACTTC) ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;+CGTCACTTC 1047;50|29 Ref Hom;+CGTCACTTC 2789;0|66 N N - 3 195955178 195955178 C T snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs72611184 0.312101 0.1752 0.2965 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;C>T 547;15|22 Ref Hom;C>T 1083;0|42 N N - 3 195955209 195955209 T C snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs72611185 0.392372 0 0 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;T>C 252;9|11 Ref Hom;T>C 649;0|22 N N - 3 195955272 195955272 G A snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs12491227 0.513778 0 0 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;G>A 67;8|4 Ref Hom;G>A 227;0|7 N N - 3 195956675 195956675 C G snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs60276076 0.393371 0 0 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;C>G 110;8|4 Ref Hom;C>G 150;0|5 N N - 3 195956827 195956827 T C snp synonymous SNV T675C L225L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs17852687 0.497604 0.4110 0.4801 1 0 0 exonic exonic exonic SLC51A SLC51A ENSG00000163959 synonymous SNV synonymous SNV unknown SLC51A:NM_152672:exon7:c.T675C:p.L225L, SLC51A:uc003fwe.3:exon3:c.T276C:p.L92L,SLC51A:uc010iac.1:exon4:c.T327C:p.L109L,SLC51A:uc003fwd.3:exon7:c.T675C:p.L225L, UNKNOWN Het;T>C 1445;83|70 Ref Hom;T>C 2274;0|86 N N - 3 195956970 195956970 C T snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs67261052 0.392572 0.2867 0.3615 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;C>T 1020;43|44 Ref Hom;C>T 1309;0|48 N N - 3 195959837 195959837 G A snp UTR3 *401G>A SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs61608982 0.403355 0 0 1 0 0 intronic UTR3 intronic SLC51A SLC51A(uc010iac.1:c.*401G>A) ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;G>A 218;12|9 Ref Hom;G>A 643;0|20 N N - 3 195959859 195959859 C T snp UTR3 *423C>T SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs56867360 0.384784 0 0 1 0 0 intronic UTR3 intronic SLC51A SLC51A(uc010iac.1:c.*423C>T) ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;C>T 412;22|16 Ref Hom;C>T 960;0|31 N N - 3 195959924 195959924 T C snp intronic SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs1476331 0.573882 0.4609 0.5070 1 0 0 intronic intronic intronic SLC51A SLC51A ENSG00000161217,ENSG00000163959 Na Na Na Na Na Na Het;T>C 1265;60|57 Ref Hom;T>C 2667;0|98 N N - 3 195960225 195960225 A G snp UTR3 *155A>G SLC51A Slc51a ENSG00000163959 solute carrier family 51 alpha subunit chr3:195938358-195970049 Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. GO:0006810;transport;IEA|GO:0015721;bile acid and bile salt transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0005215;transporter activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC51A https://www.ncbi.nlm.nih.gov/omim/?term=612084 http://www.informatics.jax.org/searchtool/Search.do?query=SLC51A&submit=Quick%0D%11147ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC51A rs9343 0.586062 0 0 1 0 0 UTR3 UTR3 UTR3 SLC51A(NM_152672:c.*155A>G) SLC51A(uc003fwd.3:c.*155A>G,uc003fwe.3:c.*155A>G) ENSG00000163959(ENST00000296327:c.*155A>G) Na Na Na Na Na Na Het;A>G 158;4|5 Ref Hom;A>G 482;0|13 N N - 3 195975284 195975284 C G snp intronic PCYT1A Pcyt1a ENSG00000161217 phosphate cytidylyltransferase 1, choline, alpha chr3:195941093-196014828 This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015] orofacial clefts; Cleft Lip|Cleft Palate; neural tube defects Embryos homozygous for a targeted null mutation fail to form blastocysts, do not develop past E3.5, and fail to implant. Synthesis of PC GO:0006629;lipid metabolic process;IEA|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;IEA|GO:0006952;defense response;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009058;biosynthetic process;IEA GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0042587;glycogen granule;IEA GO:0003824;catalytic activity;IEA|GO:0004105;choline-phosphate cytidylyltransferase activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0008289;lipid binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0031210;phosphatidylcholine binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCYT1A https://hpo.jax.org/app/browse/search?q=PCYT1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123695 http://www.informatics.jax.org/searchtool/Search.do?query=PCYT1A&submit=Quick%0D%10565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCYT1A rs3772107 0.311901 0 0 1 0 0 intronic intronic intronic PCYT1A PCYT1A ENSG00000161217,ENSG00000272741 Na Na Na Na Na Na Het;C>G 164;5|7 Ref Hom;C>G 100;0|3 N N - 3 196051564 196051564 G A snp ncRNA_exonic TM4SF19-AS1 rs66942309 0.369609 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TM4SF19-AS1 AK124973(uc003fwk.1:c.*523G>A) ENSG00000235897 Na Na Na Na Na Na Het;G>A 1900;118|85 Ref Hom;G>A 3970;0|134 N N - 3 196096451 196096451 C T snp intronic UBXN7 Ubxn7 ENSG00000163960 UBX domain protein 7 chr3:196074533-196159345 Neddylation GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBXN7 https://www.ncbi.nlm.nih.gov/omim/?term=616379 http://www.informatics.jax.org/searchtool/Search.do?query=UBXN7&submit=Quick%0D%11148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN7 rs9860931 0.60643 0 0 1 0 0 intronic intronic intronic UBXN7 UBXN7 ENSG00000163960 Na Na Na Na Na Na Het;C>T 228;11|9 Ref Hom;C>T 253;0|9 N N - 3 196118621 196118621 A T snp intronic UBXN7 Ubxn7 ENSG00000163960 UBX domain protein 7 chr3:196074533-196159345 Neddylation GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBXN7 https://www.ncbi.nlm.nih.gov/omim/?term=616379 http://www.informatics.jax.org/searchtool/Search.do?query=UBXN7&submit=Quick%0D%11148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN7 rs6583305 0.445088 0 0 1 0 0 intronic intronic intronic UBXN7 UBXN7 ENSG00000163960 Na Na Na Na Na Na Het;A>T 153;26|11 Ref Hom;A>T 469;2|21 N N - 3 196118868 196118868 A C snp intronic UBXN7 Ubxn7 ENSG00000163960 UBX domain protein 7 chr3:196074533-196159345 Neddylation GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBXN7 https://www.ncbi.nlm.nih.gov/omim/?term=616379 http://www.informatics.jax.org/searchtool/Search.do?query=UBXN7&submit=Quick%0D%11148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN7 rs6779332 0.571086 0 0 1 0 0 intronic intronic intronic UBXN7 UBXN7 ENSG00000163960 Na Na Na Na Na Na Het;A>C 76;11|4 Ref Hom;A>C 1011;1|28 N N - 3 196158332 196158332 T C snp ncRNA_exonic UBXN7-AS1 rs7374260 0.56869 0 0 1 0 0 intronic UTR5 ncRNA_exonic UBXN7 AX747828(uc003fwo.1:c.-156T>C) ENSG00000225822 Na Na Na Na Na Na Het;T>C 1312;58|59 Het;T>C 528;53|29 Hom;T>C 3129;2|121 N N - 3 196314752 196314752 A G snp UTR3 *3563A>G FBXO45 Fbxo45 ENSG00000174013 F-box protein 45 chr3:196295482-196315930 Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011] Mice homozygous for a null mutation display neonatal lethality with respiratory failure, impaired motor neuron innervation and neuromuscular synapse morphology, abnormal sensory neuron projections, absence of several of the major axon tracts in the brain, and impaired neuron migration. GO:0001764;neuron migration;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0016567;protein ubiquitination;IEA|GO:0021799;cerebral cortex radially oriented cell migration;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021957;corticospinal tract morphogenesis;IEA|GO:0021960;anterior commissure morphogenesis;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0060384;innervation;IEA|GO:0060386;synapse assembly involved in innervation;IEA GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXO45 https://www.ncbi.nlm.nih.gov/omim/?term=609112 http://www.informatics.jax.org/searchtool/Search.do?query=FBXO45&submit=Quick%0D%13463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXO45 rs6583325 0.895367 0 0 1 0 0 UTR3 UTR3 UTR3 FBXO45(NM_001105573:c.*3563A>G) FBXO45(uc010iai.3:c.*3563A>G) ENSG00000174013(ENST00000311630:c.*3563A>G) Na Na Na Na Na Na Het;A>G 185;13|10 Ref Hom;A>G 71;0|4 N N - 3 196359443 196359443 G A snp ncRNA_exonic LINC01063 rs1684467 0.541733 0 0 1 0 0 intergenic intergenic ncRNA_exonic FBXO45(dist=43513),NRROS(dist=7124) FBXO45(dist=43513),LRRC33(dist=7213) ENSG00000232065 Na Na Na Na Na Na Het;G>A 594;25|26 Ref Hom;G>A 1840;2|78 N N - 3 196547538 196547538 G A snp intronic PAK2 Pak2 ENSG00000180370 p21 (RAC1) activated kinase 2 chr3:196466728-196559518 The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008] HIV; Alzheimer Disease; Schizophrenia Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006469;negative regulation of protein kinase activity;TAS|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;TAS|GO:0008152;metabolic process;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IDA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0031295;T cell costimulation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0060996;dendritic spine development;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001271;negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0031267;small GTPase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0048365;Rac GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PAK2 https://www.ncbi.nlm.nih.gov/omim/?term=605022 http://www.informatics.jax.org/searchtool/Search.do?query=PAK2&submit=Quick%0D%14471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAK2 rs2166799 0.556709 0 0 1 0 0 intronic intronic intronic PAK2 PAK2 ENSG00000180370 Na Na Na Na Na Na Het;G>A 637;17|24 Het;G>A 369;25|16 Hom;G>A 980;0|29 N N - 3 196674749 196674749 C T snp nonsynonymous SNV G1019A R340Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral PIGZ Pigz ENSG00000119227 phosphatidylinositol glycan anchor biosynthesis class Z chr3:196673214-196695931 The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008] GO:0006506;GPI anchor biosynthetic process;IEA|GO:0097502;mannosylation;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000026;alpha-1,2-mannosyltransferase activity;IMP|GO:0000030;mannosyltransferase activity;IGI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIGZ https://www.uniprot.org/uniprot/Q86VD9 https://www.ncbi.nlm.nih.gov/omim/?term=611671 http://www.informatics.jax.org/searchtool/Search.do?query=PIGZ&submit=Quick%0D%5040ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGZ rs4916589 0.632188 0.6077 0.5911 0.15 2 13 exonic exonic exonic PIGZ PIGZ ENSG00000119227 nonsynonymous SNV nonsynonymous SNV unknown PIGZ:NM_025163:exon3:c.G1019A:p.R340Q, PIGZ:uc003fxh.3:exon3:c.G1019A:p.R340Q, UNKNOWN Het;C>T 2387;92|100 Het;C>T 2643;72|106 Hom;C>T 3069;1|107 N N - 3 197848554 197848554 A G snp ncRNA_intronic AC073135.1 rs529022953 0.000399361 0 0 1 0 0 intergenic intergenic ncRNA_intronic ANKRD18DP(dist=41012),FAM157A(dist=30683) ANKRD18DP(dist=41012),FAM157A(dist=30683) ENSG00000236246 Na Na Na Na Na Na Het;A>G 497;16|22 Ref Hom;A>G 259;0|11 N N - 3 23031519 23031519 A G snp ncRNA_exonic SALL4P5 rs17340262 0.0245607 0 0 1 0 0 intergenic intergenic ncRNA_exonic ZNF385D-AS2(dist=1010199),UBE2E2(dist=213265) NONE(dist=NONE),UBE2E2(dist=213265) ENSG00000231915 Na Na Na Na Na Na Het;A>G 101;2|6 Ref Hom;A>G 120;0|6 N N - 3 3133791 3133791 G A snp UTR3 *109C>T IL5RA Il5ra ENSG00000091181 interleukin 5 receptor subunit alpha chr3:3111233-3168297 The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011] Brain Ischemia|Stroke; Hypereosinophilic Syndrome|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Glomerulonephritis, IGA; asthma; asthma atopy; diabetes, type 2; Chlamydia Infections|Inflammation|Trachoma; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Atopic asthma; lung cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; multiple sclerosis; Brain Ischemia|Inflammation|Stroke; Recurrence|Venous Thromboembolism; Type 2 diabetes; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; dermatitis and eczema; Migraine Disorders; longevity; restenosis; Inflammation|Venous Thromboembolism; Chronic renal failure|Kidney Failure, Chronic; Coronary Artery Disease|Inflammation; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies. Mice homozygous for one knock-out allele exhibit increased metastasis of injected B16F10 melanoma cells. Interleukin receptor SHC signaling GO:0000165;MAPK cascade;TAS|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032674;regulation of interleukin-5 production;IEA|GO:0038043;interleukin-5-mediated signaling pathway;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0071310;cellular response to organic substance;IEA GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004713;protein tyrosine kinase activity;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004914;interleukin-5 receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL5RA https://www.uniprot.org/uniprot/Q01344 https://www.ncbi.nlm.nih.gov/omim/?term=147851 http://www.informatics.jax.org/searchtool/Search.do?query=IL5RA&submit=Quick%0D%2143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL5RA rs7647903 0.146166 0 0 1 0 0 UTR3 UTR3 UTR3 IL5RA(NM_175724:c.*109C>T,NM_175727:c.*109C>T) IL5RA(uc011asn.1:c.*109C>T,uc010hbu.2:c.*109C>T) ENSG00000091181(ENST00000430514:c.*109C>T,ENST00000456302:c.*109C>T) Na Na Na Na Na Na Het;G>A 257;1|9 Het;G>A 135;6|5 Hom;G>A 493;0|15 N N - 3 32233185 32233186 TA T indel downstream RPSAP11 rs58670635 0.683107 0 0 1 0 0 intergenic intergenic downstream GPD1L(dist=22978),CMTM8(dist=46985) GPD1L(dist=22978),CMTM8(dist=46985) ENSG00000237433 Na Na Na Na Na Na Het;-A 217;4|13 Het;-A 305;5|18 Hom;-A 244;1|12 N N - 3 32769471 32769483 TTTTATTTATTTA T indel intronic CNOT10 Cnot10 ENSG00000182973 CCR4-NOT transcription complex subunit 10 chr3:32726637-32815367 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0031047;gene silencing by RNA;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT10 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT10&submit=Quick%0D%14892ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT10 rs150924656 0 0 0 1 0 0 intronic intronic intronic CNOT10 CNOT10 ENSG00000182973 Na Na Na Na Na Na Het;-TTTATTTATTTA 42;2|2 Ref Hom;-TTTATTTATTTA 131;0|4 N N - 3 32774782 32774782 A G snp ncRNA_intronic CNOT10-AS1 rs9798936 0.770168 0 0 1 0 0 intronic intronic ncRNA_intronic CNOT10 CNOT10 ENSG00000251224 Na Na Na Na Na Na Het;A>G 121;1|4 Ref Hom;A>G 229;0|6 N N - 3 32933344 32933344 G GTC indel UTR3 *41G>GTC TRIM71 Trim71 ENSG00000206557 tripartite motif containing 71 chr3:32859510-32939318 The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015] Respiratory Function Tests Homozygous gene trap mutations of this gene result in failure of cranial neural tube closure and embryonic lethality. Homozygotes for a gene trap allele exhibit exencephaly, abnormal nasal process and facial prominence, reduced brain size, and embryonic or fetal lethality. Antigen processing: Ubiquitination & Proteasome degradation GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001843;neural tube closure;IEA|GO:0007275;multicellular organism development;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0010586;miRNA metabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0017148;negative regulation of translation;IDA|GO:0021915;neural tube development;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0035278;miRNA mediated inhibition of translation;IEA|GO:0051246;regulation of protein metabolic process;IEA|GO:0051865;protein autoubiquitination;IEA|GO:0060964;regulation of gene silencing by miRNA;IEA|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071310;cellular response to organic substance;IEA|GO:0072089;stem cell proliferation;IEA|GO:2000177;regulation of neural precursor cell proliferation;IEA|GO:2000637;positive regulation of gene silencing by miRNA;IEA GO:0000932;P-body;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA GO:0003723;RNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0030371;translation repressor activity;IDA|GO:0035198;miRNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRIM71 http://www.informatics.jax.org/searchtool/Search.do?query=TRIM71&submit=Quick%0D%17758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM71 rs10630076 0 0 0.3554 1 0 0 UTR3 UTR3 UTR3 TRIM71(NM_001039111:c.*41G>GTC) TRIM71(uc003cff.3:c.*41G>GTC) ENSG00000206557(ENST00000383763:c.*41G>GTC) Na Na Na Na Na Na Het;+TC 317;21|13 Ref Hom;+TC 387;0|12 N N - 3 33444994 33445006 ATCTATCTATCTG A indel intronic UBP1 Ubp1 ENSG00000153560 upstream binding protein 1 (LBP-1a) chr3:33429828-33482863 Hip; Behcet Syndrome Mice homozygous for disruptions in this gene die during gestation. GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0019079;viral genome replication;TAS|GO:0045892;negative regulation of transcription, DNA-templated;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/UBP1 https://www.uniprot.org/uniprot/Q9NZI7 https://www.ncbi.nlm.nih.gov/omim/?term=609784 http://www.informatics.jax.org/searchtool/Search.do?query=UBP1&submit=Quick%0D%9673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBP1 rs143169995 0.473842 0 0 1 0 0 intronic intronic intronic UBP1 UBP1 ENSG00000153560 Na Na Na Na Na Na Het;-TCTATCTATCTG 337;13|10 Het;-TCTATCTATCTG 302;2|10 Hom;-TCTATCTATCTG 333;0|10 N N - 3 38048891 38048891 G GACAC indel downstream VILL Vill ENSG00000136059 villin like chr3:38029550-38048679 The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008] GO:0007010;cytoskeleton organization;IEA|GO:0051693;actin filament capping;IEA GO:0015629;actin cytoskeleton;TAS GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;TAS http://www.genecards.org/index.php?path=/Search/keyword/VILL https://www.uniprot.org/uniprot/O15195 http://www.informatics.jax.org/searchtool/Search.do?query=VILL&submit=Quick%0D%7279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VILL rs375418033 0 0 0 1 0 0 downstream downstream downstream PLCD1,VILL PLCD1,VILL ENSG00000136059,ENSG00000187091 Na Na Na Na Na Na Het;+ACAC 110;3|2 Ref Hom;+ACAC 288;0|6 N N - 3 39175576 39175576 G T snp intronic TTC21A Ttc21a ENSG00000168026 tetratricopeptide repeat domain 21A chr3:39149152-39180394 Thyrotropin Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece. GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC21A https://www.ncbi.nlm.nih.gov/omim/?term=611430 http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A rs784492 0.666334 0 0 1 0 0 intronic intronic intronic TTC21A TTC21A ENSG00000168026 Na Na Na Na Na Na Het;G>T 344;4|11 Het;G>T 341;9|11 Hom;G>T 129;0|5 N N - 3 39844272 39844272 G GC indel intergenic NONE rs35356486 0.558706 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MYRIP(dist=6133) NONE(dist=NONE),MYRIP(dist=7031) ENSG00000230757(dist=158076),ENSG00000170011(dist=6133) Na Na Na Na Na Na Het;+C 57;6|3 Ref Hom;+C 124;0|4 N N - 3 402273 402273 C CT indel intronic CHL1 Chl1 ENSG00000134121 cell adhesion molecule L1 like chr3:238279-451090 The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] Tobacco Use Disorder; Cleft Lip|Cleft Palate; epithelial ovarian cancer ; IQ; Death, Sudden, Cardiac; Hemoglobin A, Glycosylated; schizophrenia Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior. CHL1 interactions GO:0001764;neuron migration;IEA|GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0030154;cell differentiation;IEA|GO:0031103;axon regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0035640;exploration behavior;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0050890;cognition;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030425;dendrite;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0002020;protease binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHL1 https://www.uniprot.org/uniprot/O00533 https://www.ncbi.nlm.nih.gov/omim/?term=607416 http://www.informatics.jax.org/searchtool/Search.do?query=CHL1&submit=Quick%0D%6916ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHL1 rs397877823 0.554912 0 0 1 0 0 intronic intronic intronic CHL1 CHL1 ENSG00000134121 Na Na Na Na Na Na Het;+T 148;4|10 Ref Hom;+T 206;0|10 N N - 3 4023868 4023868 A G snp ncRNA_exonic PNPT1P1 rs1385467 0.566094 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRRN1(dist=134481),SETMAR(dist=321120) NONE(dist=NONE),NONE(dist=NONE) ENSG00000229241 Na Na Na Na Na Na Het;A>G 478;22|22 Het;A>G 875;33|42 Hom;A>G 2183;0|79 N N - 3 4024235 4024235 G A snp ncRNA_exonic PNPT1P1 rs79460430 0.171725 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRRN1(dist=134848),SETMAR(dist=320753) NONE(dist=NONE),NONE(dist=NONE) ENSG00000229241 Na Na Na Na Na Na Het;G>A 98;19|6 Het;G>A 333;16|16 Hom;G>A 490;0|18 N N - 3 4024446 4024446 C G snp ncRNA_exonic PNPT1P1 rs17039550 0.173922 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRRN1(dist=135059),SETMAR(dist=320542) NONE(dist=NONE),NONE(dist=NONE) ENSG00000229241 Na Na Na Na Na Na Het;C>G 480;24|20 Het;C>G 220;9|10 Hom;C>G 944;0|34 N N - 3 4024685 4024685 C T snp ncRNA_exonic PNPT1P1 rs1075926 0.169928 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRRN1(dist=135298),SETMAR(dist=320303) NONE(dist=NONE),NONE(dist=NONE) ENSG00000229241 Na Na Na Na Na Na Het;C>T 298;16|12 Het;C>T 423;6|16 Hom;C>T 526;0|16 N N - 3 4025764 4025764 G C snp ncRNA_exonic PNPT1P1 rs1125734 0.309505 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRRN1(dist=136377),SETMAR(dist=319224) NONE(dist=NONE),NONE(dist=NONE) ENSG00000229241 Na Na Na Na Na Na Het;G>C 777;23|35 Het;G>C 342;16|18 Hom;G>C 1012;0|40 N N - 3 4025779 4025779 G A snp ncRNA_exonic PNPT1P1 rs1125735 0.326877 0 0 1 0 0 intergenic intergenic ncRNA_exonic LRRN1(dist=136392),SETMAR(dist=319209) NONE(dist=NONE),NONE(dist=NONE) ENSG00000229241 Na Na Na Na Na Na Het;G>A 726;18|32 Het;G>A 279;15|17 Hom;G>A 938;1|37 N N - 3 41021433 41021433 A G snp intergenic ZNF621 ENSG00000172888 zinc finger protein 621 chr3:40566369-40616176 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF621 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF621&submit=Quick%0D%13251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF621 rs13063805 0.297724 0 0 1 0 0 intergenic intergenic intergenic ZNF621(dist=440148),CTNNB1(dist=219509) ZNF621(dist=440390),CTNNB1(dist=214968) ENSG00000233096(dist=8364),ENSG00000233919(dist=182345) Na Na Na Na Na Na Het;A>G 180;2|9 Ref Hom;A>G 71;0|4 N N - 3 4188089 4188090 AG A indel intronic SUMF1 Sumf1 ENSG00000144455 sulfatase modifying factor 1 chr3:3742498-4508965 This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] multiple sclerosis; Multiple Sclerosis; Cholesterol, LDL; Blood Pressure Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration. The activation of arylsulfatases GO:0006687;glycosphingolipid metabolic process;TAS|GO:0043687;post-translational protein modification;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0016491;oxidoreductase activity;TAS|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUMF1 https://www.uniprot.org/uniprot/Q8NBK3 https://hpo.jax.org/app/browse/search?q=SUMF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607939 http://www.informatics.jax.org/searchtool/Search.do?query=SUMF1&submit=Quick%0D%8609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUMF1 rs5846312 0.434105 0 0 1 0 0 intergenic intergenic intronic LRRN1(dist=298702),SETMAR(dist=156898) NONE(dist=NONE),NONE(dist=NONE) ENSG00000144455 Na Na Na Na Na Na Het;-G 533;16|22 Het;-G 445;17|19 Hom;-G 916;0|31 N N - 3 45959759 45959759 T C snp UTR3 *3498A>G FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs7129 0.409944 0 0 1 0 0 UTR3 UTR3 UTR3 FYCO1(NM_024513:c.*3498A>G) FYCO1(uc003cpb.5:c.*3498A>G) ENSG00000163820(ENST00000296137:c.*3498A>G,ENST00000433878:c.*3151A>G) Na Na Na Na Na Na Het;T>C 1028;48|50 Het;T>C 506;46|26 Hom;T>C 1959;2|79 N N - 3 45962595 45962595 C G snp UTR3 *662G>C FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs3733103 0.385583 0 0 1 0 0 UTR3 UTR3 UTR3 FYCO1(NM_024513:c.*662G>C) FYCO1(uc003cpb.5:c.*662G>C,uc011bal.1:c.*662G>C) ENSG00000163820(ENST00000296137:c.*662G>C,ENST00000433878:c.*662G>C) Na Na Na Na Na Na Het;C>G 419;49|25 Het;C>G 582;16|24 Hom;C>G 942;0|33 N N - 3 45962942 45962942 C T snp UTR3 *315G>A FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs2291470 0.409744 0 0 1 0 0 UTR3 UTR3 UTR3 FYCO1(NM_024513:c.*315G>A) FYCO1(uc003cpb.5:c.*315G>A,uc011bal.1:c.*315G>A) ENSG00000163820(ENST00000296137:c.*315G>A,ENST00000433878:c.*315G>A) Na Na Na Na Na Na Het;C>T 585;45|29 Het;C>T 809;48|40 Hom;C>T 2080;0|77 N N - 3 45965386 45965386 G A snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs2248228 0.378395 0 0 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;G>A 161;13|7 Het;G>A 289;4|12 Hom;G>A 672;0|23 N N - 3 45977866 45977866 C T snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs4535265 0.379792 0 0 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;C>T 383;15|16 Het;C>T 266;12|12 Hom;C>T 380;0|14 N N - 3 45989044 45989044 T G snp UTR3 *42T>G CXCR6 Cxcr6 ENSG00000172215 C-X-C motif chemokine receptor 6 chr3:45982425-45989845 HIV; pneumocystis carinii pneumonia; HIV; monocyte chemoattractant protein 1 (66-77); Acquired Immunodeficiency Syndrome; ovarian cancer A small percentage of mice that are heterozygous or homozygous for a knock-out allele develop medulloblastomas in the cerebellum after 12 months of age. G alpha (i) signalling events GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0019079;viral genome replication;TAS|GO:0070098;chemokine-mediated signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004950;chemokine receptor activity;IEA|GO:0015026;coreceptor activity;TAS|GO:0016494;C-X-C chemokine receptor activity;IEA|GO:0019958;C-X-C chemokine binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CXCR6 https://www.ncbi.nlm.nih.gov/omim/?term=605163 http://www.informatics.jax.org/searchtool/Search.do?query=CXCR6&submit=Quick%0D%13107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCR6 rs2234358 0.551118 0.4542 0.5574 1 0 0 UTR3 UTR3 UTR3 CXCR6(NM_006564:c.*42T>G) CXCR6(uc003cpc.1:c.*42T>G,uc010hix.1:c.*42T>G) ENSG00000172215(ENST00000438735:c.*42T>G,ENST00000304552:c.*42T>G,ENST00000458629:c.*42T>G) Na Na Na Na Na Na Het;T>G 415;31|19 Het;T>G 394;19|15 Hom;T>G 1204;1|40 N N - 3 46001063 46001063 G A snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs1532071 0.533946 0.4383 0.5527 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;G>A 366;16|17 Het;G>A 281;23|16 Hom;G>A 853;0|33 N N - 3 46007702 46007702 T C snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs1994490 0.532947 0 0 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;T>C 198;7|7 Het;T>C 381;4|13 Hom;T>C 311;0|10 N N - 3 46008790 46008790 G A snp nonsynonymous SNV C2036T A679V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs3796375 0.395168 0.3331 0.4303 0.31 4 13 exonic exonic exonic FYCO1 FYCO1 ENSG00000163820 nonsynonymous SNV nonsynonymous SNV unknown FYCO1:NM_024513:exon8:c.C2036T:p.A679V, FYCO1:uc011bal.1:exon7:c.C2036T:p.A679V,FYCO1:uc003cpb.5:exon8:c.C2036T:p.A679V, UNKNOWN Het;G>A 1284;67|56 Het;G>A 1255;33|56 Hom;G>A 2469;0|87 N N - 3 46009864 46009864 C G snp nonsynonymous SNV G962C G321A aliphatic,neutral aliphatic,hydrophobic,neutral FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs3733100 0.532947 0.4432 0.5670 0.15 2 13 exonic exonic exonic FYCO1 FYCO1 ENSG00000163820 nonsynonymous SNV nonsynonymous SNV unknown FYCO1:NM_024513:exon8:c.G962C:p.G321A, FYCO1:uc011bal.1:exon7:c.G962C:p.G321A,FYCO1:uc003cpb.5:exon8:c.G962C:p.G321A, UNKNOWN Het;C>G 2393;78|94 Het;C>G 1629;82|67 Hom;C>G 4509;0|152 N N - 3 46016599 46016599 T G snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs3821884 0.627196 0 0 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;T>G 220;5|7 Het;T>G 86;3|4 Hom;T>G 227;0|6 N N - 3 46016851 46016851 A T snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs751552 0.386981 0.3268 0.4305 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;A>T 554;28|26 Het;A>T 582;39|29 Hom;A>T 1943;1|70 N N - 3 46016944 46016944 C T snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs751553 0.386781 0 0 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;C>T 251;8|11 Het;C>T 194;8|8 Hom;C>T 320;0|11 N N - 3 46026259 46026259 G A snp intronic FYCO1 Fyco1 ENSG00000163820 FYVE and coiled-coil domain containing 1 chr3:45959396-46037316 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] Behcet Syndrome; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder GO:0006458;'de novo' protein folding;IBA|GO:0006810;transport;IEA|GO:0061077;chaperone-mediated protein folding;IBA|GO:0072383;plus-end-directed vesicle transport along microtubule;IMP|GO:1901098;positive regulation of autophagosome maturation;IMP GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005776;autophagosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/FYCO1 https://hpo.jax.org/app/browse/search?q=FYCO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607182 http://www.informatics.jax.org/searchtool/Search.do?query=FYCO1&submit=Quick%0D%11103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYCO1 rs3733097 0.386781 0 0 1 0 0 intronic intronic intronic FYCO1 FYCO1 ENSG00000163820 Na Na Na Na Na Na Het;G>A 221;12|9 Het;G>A 428;14|17 Hom;G>A 1135;0|37 N N - 3 46399798 46399798 T C snp synonymous SNV T780C N260N polar,hydrophilic,neutral polar,hydrophilic,neutral CCR2 Ccr2 ENSG00000121807 C-C motif chemokine receptor 2 chr3:46395225-46402419 This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009] Acquired Immunodeficiency Syndrome; Erythema Nodosum|Sarcoidosis; Coronary Artery Disease|Inflammation; Stomach Neoplasms; Cervical Neoplasm|Uterine Cervical Neoplasms; Carotid Artery Diseases|; Sarcoidosis|Syndrome; Kidney Failure, Chronic; Chlamydia Infections|Inflammation|Trachoma; HIV Infections|HIV Seropositivity; Migraine Disorders; Postoperative Complications; Atherosclerosis|Obesity; HIV Infections; Brain Ischemia|Hypertension|Osteoporosis|Stroke; bladder cancer; Inflammation; Asthma|Bronchial Hyperreactivity; Acquired Immunodeficiency Syndrome|; Atherosclerosis|Carotid Stenosis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Glomerulonephritis, IGA; Mucocutaneous Lymph Node Syndrome; Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration; renal allograft survival; normal variation; Acquired Immunodeficiency Syndrome|HIV Infections; chronic obstructive pulmonary disease; Lymphoma, Large B-Cell, Diffuse; Asthma|; diabetes, type 2; AIDS; coeliac disease; Acute Coronary Syndrome|; respiratory syncytial virus bronchiolitis; Brain Ischemia|Inflammation|Stroke; null; carotid artery stenosis ; lymphoma; lung cancer ; prostate cancer; Alzheimer's disease ; HIV Infections|Tuberculosis; Hypersensitivity; HIV; Recurrence|Venous Thromboembolism Mice homozygous for a knock-out allele exhibit defects in leukocyte physiology that result in altered response to myocardial infarction and increased susceptibility to bacterial infection and colitis. Mice may also exhibit retinal degeneration and alcohol aversion depending on the knock-out allele. Interleukin-10 signaling GO:0001974;blood vessel remodeling;ISS|GO:0002407;dendritic cell chemotaxis;TAS|GO:0002827;positive regulation of T-helper 1 type immune response;ISS|GO:0002829;negative regulation of type 2 immune response;ISS|GO:0006874;cellular calcium ion homeostasis;ISS|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007259;JAK-STAT cascade;TAS|GO:0009611;response to wounding;TAS|GO:0010574;regulation of vascular endothelial growth factor production;ISS|GO:0010820;positive regulation of T cell chemotaxis;ISS|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;ISS|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0019725;cellular homeostasis;ISS|GO:0032729;positive regulation of interferon-gamma production;ISS|GO:0032743;positive regulation of interleukin-2 production;ISS|GO:0035705;T-helper 17 cell chemotaxis;ISS|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;ISS|GO:0043310;negative regulation of eosinophil degranulation;ISS|GO:0046641;positive regulation of alpha-beta T cell proliferation;ISS|GO:0050729;positive regulation of inflammatory response;ISS|GO:0050870;positive regulation of T cell activation;ISS|GO:0070098;chemokine-mediated signaling pathway;ISS|GO:0090026;positive regulation of monocyte chemotaxis;IDA|GO:0090265;positive regulation of immune complex clearance by monocytes and macrophages;ISS|GO:2000439;positive regulation of monocyte extravasation;ISS|GO:2000451;positive regulation of CD8-positive, alpha-beta T cell extravasation;ISS|GO:2000464;positive regulation of astrocyte chemotaxis;IDA|GO:2000473;positive regulation of hematopoietic stem cell migration;ISS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030425;dendrite;ISS|GO:0043025;neuronal cell body;ISS|GO:0043204;perikaryon;ISS|GO:0048471;perinuclear region of cytoplasm;ISS GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004950;chemokine receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0016493;C-C chemokine receptor activity;IEA|GO:0031727;CCR2 chemokine receptor binding;IDA|GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CCR2 https://www.uniprot.org/uniprot/P41597 https://www.ncbi.nlm.nih.gov/omim/?term=601267 http://www.informatics.jax.org/searchtool/Search.do?query=CCR2&submit=Quick%0D%5349ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCR2 rs1799865 0.328474 0.3280 0.3192 1 0 0 exonic exonic exonic CCR2 CCR2 ENSG00000121807 synonymous SNV synonymous SNV unknown CCR2:NM_001123396:exon2:c.T780C:p.N260N,CCR2:NM_001123041:exon2:c.T780C:p.N260N, CCR2:uc021wxa.1:exon1:c.T780C:p.N260N,CCR2:uc003cpm.4:exon2:c.T780C:p.N260N,CCR2:uc003cpn.4:exon2:c.T780C:p.N260N, UNKNOWN Het;T>C 3778;138|152 Het;T>C 3385;119|138 Hom;T>C 7317;5|258 N N - 3 46447904 46447904 G A snp upstream CCRL2 Ccrl2 ENSG00000121797 C-C motif chemokine receptor like 2 chr3:46448654-46454488 This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008] Celiac disease; Acquired Immunodeficiency Syndrome; Cardiovascular Diseases; HIV; Narcolepsy Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. Chemokine receptors bind chemokines GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;ISS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0070098;chemokine-mediated signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004950;chemokine receptor activity;TAS|GO:0042379;chemokine receptor binding;IPI|GO:0048020;CCR chemokine receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCRL2 https://www.uniprot.org/uniprot/O00421 https://www.ncbi.nlm.nih.gov/omim/?term=608379 http://www.informatics.jax.org/searchtool/Search.do?query=CCRL2&submit=Quick%0D%5348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCRL2 rs11574433 0.444489 0 0 1 0 0 ncRNA_intronic upstream ncRNA_intronic LOC102724297 CCRL2 ENSG00000223552 Na Na Na Na Na Na Het;G>A 41;6|4 Ref Hom;G>A 120;0|6 N N - 3 46479668 46479668 A G snp intronic LTF Ltf ENSG00000012223 lactotransferrin chr3:46477136-46526724 This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] respiratory syncytial virus bronchiolitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; kidney aging; Dental Caries; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Dyslipidemias|Glucose Intolerance|Obesity; Keratitis, Herpetic; Tobacco Use Disorder; diarrhea; nephropathy, IgA; cognitive trait; Aggressive Periodontitis|Chronic Periodontitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Abortion, Spontaneous; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Aging/ Telomere Length Mice homozygous for a knock-out allele are viable, fertile, and grossly normal and exhibit only minor alterations in iron homeostasis. Mice homozygous for a different knock-out allele show increased susceptibility to inflammation-induced colorectal dysplasia along with increased cell proliferation and decreased apoptosis in colonic tissues. Amyloid fiber formation GO:0001503;ossification;IEA|GO:0001817;regulation of cytokine production;IDA|GO:0001895;retina homeostasis;IEP|GO:0002227;innate immune response in mucosa;IDA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006959;humoral immune response;TAS|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0019732;antifungal humoral response;IDA|GO:0031665;negative regulation of lipopolysaccharide-mediated signaling pathway;IDA|GO:0032680;regulation of tumor necrosis factor production;IDA|GO:0032780;negative regulation of ATPase activity;IMP|GO:0033214;iron assimilation by chelation and transport;TAS|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IMP|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044793;negative regulation by host of viral process;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0048525;negative regulation of viral process;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0055072;iron ion homeostasis;IEA|GO:0060349;bone morphogenesis;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900159;positive regulation of bone mineralization involved in bone maturation;ISS|GO:1900229;negative regulation of single-species biofilm formation in or on host organism;IDA|GO:1902732;positive regulation of chondrocyte proliferation;IDA|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IDA|GO:2000308;negative regulation of tumor necrosis factor (ligand) superfamily member 11 production;ISS|GO:2001205;negative regulation of osteoclast development;ISS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IMP|GO:0009986;cell surface;IDA|GO:0030141;secretory granule;IDA|GO:0035580;specific granule lumen;TAS|GO:0042581;specific granule;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0097013;phagocytic vesicle lumen;TAS|GO:1904724;tertiary granule lumen;TAS GO:0003677;DNA binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LTF https://www.uniprot.org/uniprot/P02788 https://www.ncbi.nlm.nih.gov/omim/?term=150210 http://www.informatics.jax.org/searchtool/Search.do?query=LTF&submit=Quick%0D%577ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTF rs3213479 0.439896 0.3553 0.3990 1 0 0 intronic intronic intronic LTF LTF ENSG00000012223 Na Na Na Na Na Na Het;A>G 591;17|23 Het;A>G 198;11|8 Hom;A>G 1173;2|42 N N - 3 46480958 46480958 C G snp nonsynonymous SNV G1698C E566D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) LTF Ltf ENSG00000012223 lactotransferrin chr3:46477136-46526724 This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] respiratory syncytial virus bronchiolitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; kidney aging; Dental Caries; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Dyslipidemias|Glucose Intolerance|Obesity; Keratitis, Herpetic; Tobacco Use Disorder; diarrhea; nephropathy, IgA; cognitive trait; Aggressive Periodontitis|Chronic Periodontitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Abortion, Spontaneous; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Aging/ Telomere Length Mice homozygous for a knock-out allele are viable, fertile, and grossly normal and exhibit only minor alterations in iron homeostasis. Mice homozygous for a different knock-out allele show increased susceptibility to inflammation-induced colorectal dysplasia along with increased cell proliferation and decreased apoptosis in colonic tissues. Amyloid fiber formation GO:0001503;ossification;IEA|GO:0001817;regulation of cytokine production;IDA|GO:0001895;retina homeostasis;IEP|GO:0002227;innate immune response in mucosa;IDA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006959;humoral immune response;TAS|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0019732;antifungal humoral response;IDA|GO:0031665;negative regulation of lipopolysaccharide-mediated signaling pathway;IDA|GO:0032680;regulation of tumor necrosis factor production;IDA|GO:0032780;negative regulation of ATPase activity;IMP|GO:0033214;iron assimilation by chelation and transport;TAS|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IMP|GO:0042742;defense response to bacterium;IEA|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044793;negative regulation by host of viral process;IMP|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:0048525;negative regulation of viral process;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0055072;iron ion homeostasis;IEA|GO:0060349;bone morphogenesis;IDA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:1900159;positive regulation of bone mineralization involved in bone maturation;ISS|GO:1900229;negative regulation of single-species biofilm formation in or on host organism;IDA|GO:1902732;positive regulation of chondrocyte proliferation;IDA|GO:2000117;negative regulation of cysteine-type endopeptidase activity;IDA|GO:2000308;negative regulation of tumor necrosis factor (ligand) superfamily member 11 production;ISS|GO:2001205;negative regulation of osteoclast development;ISS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IMP|GO:0009986;cell surface;IDA|GO:0030141;secretory granule;IDA|GO:0035580;specific granule lumen;TAS|GO:0042581;specific granule;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0097013;phagocytic vesicle lumen;TAS|GO:1904724;tertiary granule lumen;TAS GO:0003677;DNA binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0004869;cysteine-type endopeptidase inhibitor activity;IDA|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043539;protein serine/threonine kinase activator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LTF https://www.uniprot.org/uniprot/P02788 https://www.ncbi.nlm.nih.gov/omim/?term=150210 http://www.informatics.jax.org/searchtool/Search.do?query=LTF&submit=Quick%0D%577ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LTF rs2073495 0.277157 0.2578 0.3237 0.08 1 13 exonic exonic exonic LTF LTF ENSG00000012223 nonsynonymous SNV nonsynonymous SNV unknown LTF:NM_001199149:exon15:c.G1605C:p.E535D,LTF:NM_002343:exon15:c.G1737C:p.E579D, LTF:uc003cpr.3:exon18:c.G1698C:p.E566D,LTF:uc003fzr.3:exon15:c.G1605C:p.E535D,LTF:uc010hjh.3:exon15:c.G1731C:p.E577D,LTF:uc003cpq.3:exon15:c.G1737C:p.E579D, UNKNOWN Het;C>G 1192;29|44 Het;C>G 706;34|34 Hom;C>G 1188;1|41 N N - 3 46718516 46718516 C T snp intronic ALS2CL Als2cl ENSG00000178038 ALS2 C-terminal like chr3:46710487-46735194 Leprosy RAB GEFs exchange GTP for GDP on RABs GO:0007032;endosome organization;IGI|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALS2CL https://www.ncbi.nlm.nih.gov/omim/?term=612402 http://www.informatics.jax.org/searchtool/Search.do?query=ALS2CL&submit=Quick%0D%14126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALS2CL rs183508705 0.00379393 0.0044 0.0037 1 0 0 intronic intronic intronic ALS2CL ALS2CL ENSG00000178038 Na Na Na Na Na Na Het;C>T 691;28|34 Het;C>T 787;62|42 Hom;C>T 2005;2|74 N N - 3 46750553 46750553 G A snp intronic TMIE Tmie ENSG00000181585 transmembrane inner ear chr3:46742823-46752376 This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009] Complete Hearing Loss|Deafness Mutations in this gene cause circling behavior and deafness in homozygous mice. GO:0007605;sensory perception of sound;IEA|GO:0042472;inner ear morphogenesis;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMIE https://hpo.jax.org/app/browse/search?q=TMIE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607237 http://www.informatics.jax.org/searchtool/Search.do?query=TMIE&submit=Quick%0D%14637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMIE rs11130106 0.368411 0 0 1 0 0 intronic intronic intronic TMIE TMIE ENSG00000181585 Na Na Na Na Na Na Het;G>A 1439;57|62 Het;G>A 1238;39|54 Hom;G>A 2870;1|101 N N - 3 4687470 4687470 G GCT indel UTR3 *22G>GCT ITPR1 Itpr1 ENSG00000150995 inositol 1,4,5-trisphosphate receptor type 1 chr3:4535032-4889524 This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ITPR1 https://www.uniprot.org/uniprot/Q14643 https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147265 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1 rs373317846 0 0 0.7869 1 0 0 intronic UTR3 intronic ITPR1 ITPR1(uc010hbz.3:c.*22G>GCT) ENSG00000150995 Na Na Na Na Na Na Het;+CT 1226;6|40 Het;+CT 986;4|31 Hom;+CT 797;2|25 N N - 3 46945331 46945331 C T snp downstream PTH1R Pth1r ENSG00000160801 parathyroid hormone 1 receptor chr3:46919236-46945287 The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] Hyperparathyroidism, Secondary; bone density height; osteoporosis; Alzheimer's disease ; bone density; height; PTH; pyridinoline, urinary; recurrent fetal loss; Bone Mineral Density; thyroid cancer; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Fractures, Bone|Osteoporosis; bone density; malignancy; Type 2 Diabetes| edema | rosiglitazone Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization. G alpha (s) signalling events GO:0001501;skeletal system development;TAS|GO:0001503;ossification;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IDA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IC|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0030282;bone mineralization;IEA|GO:0045453;bone resorption;IEA|GO:0048469;cell maturation;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0016324;apical plasma membrane;ISS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;ISS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004991;parathyroid hormone receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017046;peptide hormone binding;IDA|GO:0043621;protein self-association;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTH1R https://hpo.jax.org/app/browse/search?q=PTH1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168468 http://www.informatics.jax.org/searchtool/Search.do?query=PTH1R&submit=Quick%0D%10513ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH1R rs769303125 0 0 0 1 0 0 downstream downstream downstream PTH1R PTH1R ENSG00000160801 Na Na Na Na Na Na Het;C>T 100;3|5 Het;C>T 43;3|3 Hom;C>T 109;0|5 N N - 3 47048452 47048452 T G snp intronic NBEAL2 Nbeal2 ENSG00000160796 neurobeachin like 2 chr3:47021173-47051193 The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] schizophrenia Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. Neutrophil degranulation GO:0030220;platelet formation;IMP|GO:0043312;neutrophil degranulation;TAS GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/NBEAL2 https://hpo.jax.org/app/browse/search?q=NBEAL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614169 http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL2&submit=Quick%0D%10511ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL2 rs56217494 0.323283 0 0 1 0 0 intronic intronic intronic NBEAL2 NBEAL2 ENSG00000160796 Na Na Na Na Na Na Het;T>G 559;23|18 Het;T>G 446;15|15 Hom;T>G 873;0|25 N N - 3 4712234 4712234 G A snp intronic ITPR1 Itpr1 ENSG00000150995 inositol 1,4,5-trisphosphate receptor type 1 chr3:4535032-4889524 This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ITPR1 https://www.uniprot.org/uniprot/Q14643 https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147265 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1 rs1994500 0.417332 0 0 1 0 0 intronic intronic intronic ITPR1 ITPR1 ENSG00000150995 Na Na Na Na Na Na Het;G>A 102;4|4 Ref Hom;G>A 97;0|4 N N - 3 48222353 48222353 C T snp intronic CDC25A Cdc25a ENSG00000164045 cell division cycle 25A chr3:48198636-48229892 CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] lung cancer; esophageal adenocarcinoma; schizophrenia; ovarian cancer; chronic obstructive pulmonary disease; Breast Neoplasms|Mammary Neoplasms; altered cell-cycle; lung cancer ; bladder cancer; Tobacco Use Disorder Homozygotes for a spontaneous mutation exhibit elevated levels of early erythroid progenitor cell cycling but erythropoiesis is normally unaffected. Homozygous deletion of this gene is lethal and male heterozygotes display decreased vertebral trabecular bone. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;TAS|GO:0009314;response to radiation;IDA|GO:0016579;protein deubiquitination;TAS|GO:0034644;cellular response to UV;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;TAS|GO:1902751;positive regulation of cell cycle G2/M phase transition;IEA|GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;TAS|GO:0009314;response to radiation;IDA|GO:0016579;protein deubiquitination;TAS|GO:0034644;cellular response to UV;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0051301;cell division;IEA|GO:0051726;regulation of cell cycle;TAS|GO:1902751;positive regulation of cell cycle G2/M phase transition;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004721;phosphoprotein phosphatase activity;TAS|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDC25A https://www.uniprot.org/uniprot/P30304 https://www.ncbi.nlm.nih.gov/omim/?term=116947 http://www.informatics.jax.org/searchtool/Search.do?query=CDC25A&submit=Quick%0D%197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC25A rs3731507 0.0249601 0.0318 0.0453 1 0 0 intronic intronic intronic CDC25A CDC25A ENSG00000164045 Na Na Na Na Na Na Het;C>T 747;36|31 Het;C>T 880;26|36 Hom;C>T 1920;1|74 N N - 3 4842488 4842488 G T snp intronic ITPR1 Itpr1 ENSG00000150995 inositol 1,4,5-trisphosphate receptor type 1 chr3:4535032-4889524 This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] Cholesterol; platelet signaling; bronchodilator response; Insulin; Triglycerides; Tobacco Use Disorder; E-Selectin; Heart Failure; Cholesterol, HDL; thyroid cancer; Insulin Resistance; Respiratory Function Tests Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;NAS|GO:0009791;post-embryonic development;IEA|GO:0010506;regulation of autophagy;TAS|GO:0030168;platelet activation;TAS|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0048016;inositol phosphate-mediated signaling;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050882;voluntary musculoskeletal movement;IEA|GO:0051209;release of sequestered calcium ion into cytosol;ISS|GO:0055085;transmembrane transport;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IBA|GO:0005955;calcineurin complex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0031088;platelet dense granule membrane;IDA|GO:0031094;platelet dense tubular network;IDA|GO:0031095;platelet dense tubular network membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005216;ion channel activity;IEA|GO:0005220;inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0015085;calcium ion transmembrane transporter activity;TAS|GO:0015278;calcium-release channel activity;ISS|GO:0019855;calcium channel inhibitor activity;IDA|GO:0035091;phosphatidylinositol binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ITPR1 https://www.uniprot.org/uniprot/Q14643 https://hpo.jax.org/app/browse/search?q=ITPR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147265 http://www.informatics.jax.org/searchtool/Search.do?query=ITPR1&submit=Quick%0D%9366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPR1 rs2291861 0.466454 0 0 1 0 0 intronic intronic intronic ITPR1 ITPR1 ENSG00000150995 Na Na Na Na Na Na Het;G>T 59;3|3 Ref Hom;G>T 120;0|4 N N - 3 48451307 48451307 A G snp intronic PLXNB1 Plxnb1 ENSG00000164050 plexin B1 chr3:48445261-48471594 schizophrenia Homozygous null mutants are viable and fertile and show no apparent defects in development, adult histology or basic functional parameters. However, a transitory renal phenotype, characterized by increased ureteric branching and enlarged kidneys, is noted over early stages of renal development. Sema4D induced cell migration and growth-cone collapse GO:0007162;negative regulation of cell adhesion;IDA|GO:0007165;signal transduction;TAS|GO:0008360;regulation of cell shape;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0016477;cell migration;NAS|GO:0033689;negative regulation of osteoblast proliferation;ISS|GO:0035556;intracellular signal transduction;NAS|GO:0043087;regulation of GTPase activity;IBA|GO:0043547;positive regulation of GTPase activity;ISS|GO:0043931;ossification involved in bone maturation;ISS|GO:0048675;axon extension;IBA|GO:0048812;neuron projection morphogenesis;ISS|GO:0050772;positive regulation of axonogenesis;IBA|GO:0051493;regulation of cytoskeleton organization;IDA|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS GO:0002116;semaphorin receptor complex;TAS|GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IDA|GO:0030215;semaphorin receptor binding;TAS|GO:0032794;GTPase activating protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PLXNB1 https://www.ncbi.nlm.nih.gov/omim/?term=601053 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB1&submit=Quick%0D%11173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB1 rs143861937 0.0303514 0.0377 0.0555 1 0 0 intronic intronic intronic PLXNB1 PLXNB1 ENSG00000164050 Na Na Na Na Na Na Het;A>G 618;33|26 Het;A>G 279;35|15 Hom;A>G 1474;0|52 N N - 3 48509066 48509066 C T snp downstream SHISA5 Shisa5 ENSG00000164054 shisa family member 5 chr3:48509197-48542259 This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016] schizophrenia Mice homozygous for a knock-out allele are viable, fertile and exhibit no apparent phenotype. Post-translational protein phosphorylation GO:0006915;apoptotic process;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SHISA5 https://www.ncbi.nlm.nih.gov/omim/?term=607290 http://www.informatics.jax.org/searchtool/Search.do?query=SHISA5&submit=Quick%0D%11176ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHISA5 rs865821020 0 0 0 1 0 0 downstream downstream downstream SHISA5,TREX1 ATRIP,SHISA5,TREX1 ENSG00000164054,ENSG00000213689 Na Na Na Na Na Na Het;C>T 994;37|41 Het;C>T 508;33|25 Hom;C>T 1995;0|71 N N - 3 48601902 48601902 C G snp intronic COL7A1 Col7a1 ENSG00000114270 collagen type VII alpha 1 chain chr3:48601506-48632700 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] dystrophic epidermolysis bullosa; null; schizophrenia; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa|Pruritus Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005590;collagen type VII trimer;TAS|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031012;extracellular matrix;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL7A1 https://www.uniprot.org/uniprot/Q02388 https://hpo.jax.org/app/browse/search?q=COL7A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120120 http://www.informatics.jax.org/searchtool/Search.do?query=COL7A1&submit=Quick%0D%4447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL7A1 rs200632452 0.00479233 0.0010 0.0047 1 0 0 intronic intronic intronic COL7A1 COL7A1 ENSG00000114270 Na Na Na Na Na Na Het;C>G 162;19|10 Het;C>G 550;17|23 Hom;C>G 908;2|34 N N - 3 48624611 48624611 C T snp intronic COL7A1 Col7a1 ENSG00000114270 collagen type VII alpha 1 chain chr3:48601506-48632700 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] dystrophic epidermolysis bullosa; null; schizophrenia; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa|Pruritus Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005590;collagen type VII trimer;TAS|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031012;extracellular matrix;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL7A1 https://www.uniprot.org/uniprot/Q02388 https://hpo.jax.org/app/browse/search?q=COL7A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120120 http://www.informatics.jax.org/searchtool/Search.do?query=COL7A1&submit=Quick%0D%4447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL7A1 rs2255532 0.430511 0.4759 0.3573 1 0 0 intronic intronic intronic COL7A1 COL7A1 ENSG00000114270 Na Na Na Na Na Na Het;C>T 2864;213|143 Het;C>T 3283;163|155 Hom;C>T 7541;3|290 N N - 3 48626700 48626700 C T snp intronic COL7A1 Col7a1 ENSG00000114270 collagen type VII alpha 1 chain chr3:48601506-48632700 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] dystrophic epidermolysis bullosa; null; schizophrenia; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa|Pruritus Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005590;collagen type VII trimer;TAS|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031012;extracellular matrix;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL7A1 https://www.uniprot.org/uniprot/Q02388 https://hpo.jax.org/app/browse/search?q=COL7A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120120 http://www.informatics.jax.org/searchtool/Search.do?query=COL7A1&submit=Quick%0D%4447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL7A1 rs149684539 0.00379393 0 0 1 0 0 intronic intronic intronic COL7A1 COL7A1 ENSG00000114270 Na Na Na Na Na Na Het;C>T 1210;64|56 Het;C>T 1094;71|51 Hom;C>T 2861;0|102 N N - 3 48626832 48626832 C T snp nonsynonymous SNV G2242A E748K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) COL7A1 Col7a1 ENSG00000114270 collagen type VII alpha 1 chain chr3:48601506-48632700 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] dystrophic epidermolysis bullosa; null; schizophrenia; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa|Pruritus Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005590;collagen type VII trimer;TAS|GO:0005604;basement membrane;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031012;extracellular matrix;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL7A1 https://www.uniprot.org/uniprot/Q02388 https://hpo.jax.org/app/browse/search?q=COL7A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120120 http://www.informatics.jax.org/searchtool/Search.do?query=COL7A1&submit=Quick%0D%4447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL7A1 rs148411473 0.00379393 0.0009 0.0033 0.46 6 13 exonic exonic exonic COL7A1 COL7A1 ENSG00000114270 nonsynonymous SNV nonsynonymous SNV unknown COL7A1:NM_000094:exon17:c.G2242A:p.E748K, COL7A1:uc003ctz.2:exon17:c.G2242A:p.E748K, UNKNOWN Het;C>T 2308;141|113 Het;C>T 1876;129|91 Hom;C>T 5712;4|212 N N - 3 48698895 48698895 C T snp synonymous SNV G1173A L391L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CELSR3 Celsr3 ENSG00000008300 cadherin EGF LAG seven-pass G-type receptor 3 chr3:48673902-48700348 This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013] Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development. GO:0001764;neuron migration;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0007413;axonal fasciculation;IEA|GO:0032880;regulation of protein localization;IEA|GO:0036514;dopaminergic neuron axon guidance;IEA|GO:0036515;serotonergic neuron axon guidance;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0060271;cilium assembly;IEA|GO:1904938;planar cell polarity pathway involved in axon guidance;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CELSR3 https://www.uniprot.org/uniprot/Q9NYQ7 https://www.ncbi.nlm.nih.gov/omim/?term=604264 http://www.informatics.jax.org/searchtool/Search.do?query=CELSR3&submit=Quick%0D%475ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR3 rs761827555 0 0 5.394e-05 1 0 0 exonic exonic exonic CELSR3 CELSR3 ENSG00000008300 synonymous SNV synonymous SNV unknown CELSR3:NM_001407:exon1:c.G1173A:p.L391L, CELSR3:uc003cuf.1:exon3:c.G1383A:p.L461L,CELSR3:uc003cul.3:exon1:c.G1173A:p.L391L, UNKNOWN Het;C>T 1151;55|51 Het;C>T 620;41|27 Hom;C>T 2507;0|81 N N - 3 48730850 48730850 C T snp intronic IP6K2 Ip6k2 ENSG00000068745 inositol hexakisphosphate kinase 2 chr3:48725436-48777786 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Homozygotes for a null allele are resistant to radiation-induced mortality and show increased double-strand DNA break repair and incidence of induced aerodigestive tract carcinomas. Homozygotes for another null allele show increased B cell viability after radiation or neocarzinostatin treatment. Interferon alpha/beta signaling GO:0006817;phosphate ion transport;IEA|GO:0016310;phosphorylation;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046854;phosphatidylinositol phosphorylation;IDA|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0045111;intermediate filament cytoskeleton;IDA GO:0000166;nucleotide binding;IEA|GO:0000827;inositol-1,3,4,5,6-pentakisphosphate kinase activity;TAS|GO:0000828;inositol hexakisphosphate kinase activity;TAS|GO:0000829;inositol heptakisphosphate kinase activity;TAS|GO:0000832;inositol hexakisphosphate 5-kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008440;inositol-1,4,5-trisphosphate 3-kinase activity;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0052723;inositol hexakisphosphate 1-kinase activity;IEA|GO:0052724;inositol hexakisphosphate 3-kinase activity;IEA|GO:0052836;inositol 5-diphosphate pentakisphosphate 5-kinase activity;TAS|GO:0052839;inositol diphosphate tetrakisphosphate kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IP6K2 https://www.uniprot.org/uniprot/Q9UHH9 https://www.ncbi.nlm.nih.gov/omim/?term=606992 http://www.informatics.jax.org/searchtool/Search.do?query=IP6K2&submit=Quick%0D%1294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IP6K2 rs114730105 0.00499201 0 0 1 0 0 intronic intronic intronic IP6K2 IP6K2 ENSG00000068745 Na Na Na Na Na Na Het;C>T 248;13|10 Het;C>T 318;11|13 Hom;C>T 491;0|16 N N - 3 49012470 49012470 G A snp intronic ARIH2 Arih2 ENSG00000177479 ariadne RBR E3 ubiquitin protein ligase 2 chr3:48956254-49023815 The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015] Homozygous inactivation of this gene causes altered dendritic cell physiology, enhanced liver apoptosis, and complete fetal lethality that is partially modified by genetic background. On a mixed genetic background, mice that survive past weaning succumb to a severe multiorgan inflammatory response. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007275;multicellular organism development;TAS|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:0048588;developmental cell growth;IDA|GO:0070534;protein K63-linked ubiquitination;IDA|GO:0070936;protein K48-linked ubiquitination;IDA|GO:0071425;hematopoietic stem cell proliferation;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0031466;Cul5-RING ubiquitin ligase complex;IDA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/ARIH2 https://www.ncbi.nlm.nih.gov/omim/?term=605615 http://www.informatics.jax.org/searchtool/Search.do?query=ARIH2&submit=Quick%0D%14033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARIH2 rs764413507 0 0 0 1 0 0 intronic intronic intronic ARIH2 ARIH2 ENSG00000177479 Na Na Na Na Na Na Het;G>A 1391;83|66 Het;G>A 1523;44|60 Hom;G>A 3522;0|125 N N - 3 49167132 49167132 G A snp nonsynonymous SNV C1423T R475W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral LAMB2 Lamb2 ENSG00000172037 laminin subunit beta 2 chr3:49158547-49170551 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011] Eye Diseases|Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome; nephrotic syndrome; schizophrenia; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome Homozygotes for a targeted null mutation exhibit small size, severe proteinuria due to a defect in glomerular filtration, abnormalities of the retina and skeletal neuromuscular synapses, and lethality by 30 days of age. Post-translational protein phosphorylation GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0007601;visual perception;IEA|GO:0014002;astrocyte development;IEA|GO:0014044;Schwann cell development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031175;neuron projection development;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048677;axon extension involved in regeneration;IEA|GO:0050808;synapse organization;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0072249;metanephric glomerular visceral epithelial cell development;IEA|GO:0072274;metanephric glomerular basement membrane development;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;TAS|GO:0005608;laminin-3 complex;IPI|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043256;laminin complex;IEA|GO:0043260;laminin-11 complex;TAS|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA|GO:0005198;structural molecule activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/LAMB2 https://hpo.jax.org/app/browse/search?q=LAMB2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150325 http://www.informatics.jax.org/searchtool/Search.do?query=LAMB2&submit=Quick%0D%13072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMB2 rs144487632 0 0 3.305e-05 0.69 9 13 exonic exonic exonic LAMB2 LAMB2 ENSG00000172037 nonsynonymous SNV nonsynonymous SNV unknown LAMB2:NM_002292:exon11:c.C1423T:p.R475W, LAMB2:uc003cwe.3:exon11:c.C1423T:p.R475W,LAMB2:uc003cwf.1:exon12:c.C1423T:p.R475W, UNKNOWN Het;G>A 2618;84|108 Het;G>A 1360;80|67 Hom;G>A 3766;2|146 N N - 3 4938936 4938936 C T snp ncRNA_exonic BHLHE40-AS1 rs13078314 0.419928 0 0 1 0 0 ncRNA_exonic downstream ncRNA_exonic BHLHE40-AS1 BHLHE40-AS1 ENSG00000235831 Na Na Na Na Na Na Het;C>T 3023;155|130 Het;C>T 2564;108|103 Hom;C>T 6388;2|218 N N - 3 4939271 4939271 A G snp ncRNA_exonic BHLHE40-AS1 rs13062482 0.410144 0 0 1 0 0 ncRNA_exonic downstream ncRNA_exonic BHLHE40-AS1 BHLHE40-AS1 ENSG00000235831 Na Na Na Na Na Na Het;A>G 85;2|3 Het;A>G 115;5|4 Hom;A>G 137;0|4 N N - 3 49395429 49395429 C CCCCCG indel unknown GPX1 Gpx1 ENSG00000233276 glutathione peroxidase 1 chr3:49394609-49396033 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants and multiple pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2016] Coronary Artery Disease; diabetes, type 2; hypertension; Amphetamine-Related Disorders|Recurrence; metabolic syndrome; Autism; stroke; oxidative stress; breast cancer; Diabetes Complications|pancreatic neoplasm|Pancreatic Neoplasms; Pseudoxanthoma Elasticum; Brain Neoplasms|Occupational Diseases; Kidney Failure, Chronic; tardive dyskinesia; asthma; Aneurysm, Dissecting|Aortic Aneurysm, Thoracic|Hypertension; Crohn Disease|Crohn's disease; catalase activity; arsnic exposure; breast cancer ; lung cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma|Sunburn; blood pressure, arterial hypertension; Pregnancy Complications; Adenoma|Colorectal Neoplasms; Degenerative arthropathy |Osteoarthritis; macular degeneration; dyskinesias; DNA Damage; lymphoma, Non-Hodgkin's; diabetic neuropathy; Neoplasms; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Aging/ Telomere Length; Cerebral Hemorrhage; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Calcinosis|Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Diabetes mellitus; lung cancer; prostate cancer; Drug-Induced Liver Injury; Mouth Neoplasms|Substance-Related Disorders; head and neck cancer; non-Hodgkin lymphoma; cognitive trait; Occupational Diseases; normal variation; diabetes, type 2; liver disease; bladder cancer; atherosclerosis, generalized; vascular disease; Cardiomyopathy, Dilated; smoking; Poisoning; cervical intraepithelial neoplasia grade 3; Acquired Immunodeficiency Syndrome|Disease Progression; Malnutrition; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; benzene haematotoxicity; aging and longevity; lymphoma lymphoma, non-Hodgkin; Pulmonary Disease, Chronic Obstructive; null; personality traits; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; schizophrenia; Lymphoma, Non-Hodgkin; Alzheimer's disease; DNA damage; Delayed Graft Function|Kidney Diseases Homozygotes for targeted null mutations show increased sensitivity to the oxidative stress agents paraquat and hydrogen peroxide and to ischemia/reperfusion and cold-induced brain injury. Mutants also show paradoxical bradykinin-induced vasoconstriction. Purine catabolism GO:0000302;response to reactive oxygen species;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001885;endothelial cell development;IEA|GO:0002862;negative regulation of inflammatory response to antigenic stimulus;IEA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006749;glutathione metabolic process;IDA|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008283;cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009410;response to xenobiotic stimulus;IEA|GO:0009609;response to symbiotic bacterium;IEA|GO:0009611;response to wounding;IEA|GO:0009636;response to toxic substance;IEA|GO:0009650;UV protection;IMP|GO:0010269;response to selenium ion;IMP|GO:0010332;response to gamma radiation;IEA|GO:0014902;myotube differentiation;IEA|GO:0018158;protein oxidation;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0033194;response to hydroperoxide;IEA|GO:0033599;regulation of mammary gland epithelial cell proliferation;IMP|GO:0034599;cellular response to oxidative stress;TAS|GO:0040029;regulation of gene expression, epigenetic;IDA|GO:0042311;vasodilation;IEA|GO:0042542;response to hydrogen peroxide;IMP|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043534;blood vessel endothelial cell migration;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045454;cell redox homeostasis;IDA|GO:0048741;skeletal muscle fiber development;IEA|GO:0051450;myoblast proliferation;IEA|GO:0051702;interaction with symbiont;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060047;heart contraction;IMP|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0061136;regulation of proteasomal protein catabolic process;IDA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;IMP|GO:0098869;cellular oxidant detoxification;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1902905;positive regulation of supramolecular fiber organization;ISS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:0097413;Lewy body;IDA GO:0004601;peroxidase activity;IEA|GO:0004602;glutathione peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0017124;SH3 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GPX1 https://hpo.jax.org/app/browse/search?q=GPX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138320 http://www.informatics.jax.org/searchtool/Search.do?query=GPX1&submit=Quick%0D%19171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPX1 rs778886722 0 0 0.0001 1 0 0 exonic exonic exonic GPX1 GPX1 ENSG00000233276 unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN Het;+CCCCG 1057;53|30 Het;+CCCCG 828;40|23 Hom;+CCCCG 2158;4|53 N N - 3 49395752 49395752 G T snp UTR5 -41C>A GPX1 Gpx1 ENSG00000233276 glutathione peroxidase 1 chr3:49394609-49396033 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants and multiple pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2016] Coronary Artery Disease; diabetes, type 2; hypertension; Amphetamine-Related Disorders|Recurrence; metabolic syndrome; Autism; stroke; oxidative stress; breast cancer; Diabetes Complications|pancreatic neoplasm|Pancreatic Neoplasms; Pseudoxanthoma Elasticum; Brain Neoplasms|Occupational Diseases; Kidney Failure, Chronic; tardive dyskinesia; asthma; Aneurysm, Dissecting|Aortic Aneurysm, Thoracic|Hypertension; Crohn Disease|Crohn's disease; catalase activity; arsnic exposure; breast cancer ; lung cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma|Sunburn; blood pressure, arterial hypertension; Pregnancy Complications; Adenoma|Colorectal Neoplasms; Degenerative arthropathy |Osteoarthritis; macular degeneration; dyskinesias; DNA Damage; lymphoma, Non-Hodgkin's; diabetic neuropathy; Neoplasms; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Aging/ Telomere Length; Cerebral Hemorrhage; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Calcinosis|Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Diabetes mellitus; lung cancer; prostate cancer; Drug-Induced Liver Injury; Mouth Neoplasms|Substance-Related Disorders; head and neck cancer; non-Hodgkin lymphoma; cognitive trait; Occupational Diseases; normal variation; diabetes, type 2; liver disease; bladder cancer; atherosclerosis, generalized; vascular disease; Cardiomyopathy, Dilated; smoking; Poisoning; cervical intraepithelial neoplasia grade 3; Acquired Immunodeficiency Syndrome|Disease Progression; Malnutrition; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; benzene haematotoxicity; aging and longevity; lymphoma lymphoma, non-Hodgkin; Pulmonary Disease, Chronic Obstructive; null; personality traits; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; schizophrenia; Lymphoma, Non-Hodgkin; Alzheimer's disease; DNA damage; Delayed Graft Function|Kidney Diseases Homozygotes for targeted null mutations show increased sensitivity to the oxidative stress agents paraquat and hydrogen peroxide and to ischemia/reperfusion and cold-induced brain injury. Mutants also show paradoxical bradykinin-induced vasoconstriction. Purine catabolism GO:0000302;response to reactive oxygen species;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001885;endothelial cell development;IEA|GO:0002862;negative regulation of inflammatory response to antigenic stimulus;IEA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006749;glutathione metabolic process;IDA|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008283;cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009410;response to xenobiotic stimulus;IEA|GO:0009609;response to symbiotic bacterium;IEA|GO:0009611;response to wounding;IEA|GO:0009636;response to toxic substance;IEA|GO:0009650;UV protection;IMP|GO:0010269;response to selenium ion;IMP|GO:0010332;response to gamma radiation;IEA|GO:0014902;myotube differentiation;IEA|GO:0018158;protein oxidation;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0033194;response to hydroperoxide;IEA|GO:0033599;regulation of mammary gland epithelial cell proliferation;IMP|GO:0034599;cellular response to oxidative stress;TAS|GO:0040029;regulation of gene expression, epigenetic;IDA|GO:0042311;vasodilation;IEA|GO:0042542;response to hydrogen peroxide;IMP|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043534;blood vessel endothelial cell migration;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045454;cell redox homeostasis;IDA|GO:0048741;skeletal muscle fiber development;IEA|GO:0051450;myoblast proliferation;IEA|GO:0051702;interaction with symbiont;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060047;heart contraction;IMP|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0061136;regulation of proteasomal protein catabolic process;IDA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;IMP|GO:0098869;cellular oxidant detoxification;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1902905;positive regulation of supramolecular fiber organization;ISS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:0097413;Lewy body;IDA GO:0004601;peroxidase activity;IEA|GO:0004602;glutathione peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0017124;SH3 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GPX1 https://hpo.jax.org/app/browse/search?q=GPX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138320 http://www.informatics.jax.org/searchtool/Search.do?query=GPX1&submit=Quick%0D%19171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPX1 rs41276539 0.00379393 0 0.0182 1 0 0 UTR5 UTR5 UTR5 GPX1(NM_201397:c.-41C>A,NM_000581:c.-41C>A) GPX1(uc021wxw.1:c.-41C>A,uc021wxx.1:c.-41C>A) ENSG00000233276(ENST00000419783:c.-41C>A) Na Na Na Na Na Na Het;G>T 347;1|9 Het;G>T 208;2|6 Hom;G>T 236;0|7 N N - 3 49395757 49395757 G A snp UTR5 -46C>T GPX1 Gpx1 ENSG00000233276 glutathione peroxidase 1 chr3:49394609-49396033 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants and multiple pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2016] Coronary Artery Disease; diabetes, type 2; hypertension; Amphetamine-Related Disorders|Recurrence; metabolic syndrome; Autism; stroke; oxidative stress; breast cancer; Diabetes Complications|pancreatic neoplasm|Pancreatic Neoplasms; Pseudoxanthoma Elasticum; Brain Neoplasms|Occupational Diseases; Kidney Failure, Chronic; tardive dyskinesia; asthma; Aneurysm, Dissecting|Aortic Aneurysm, Thoracic|Hypertension; Crohn Disease|Crohn's disease; catalase activity; arsnic exposure; breast cancer ; lung cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma|Sunburn; blood pressure, arterial hypertension; Pregnancy Complications; Adenoma|Colorectal Neoplasms; Degenerative arthropathy |Osteoarthritis; macular degeneration; dyskinesias; DNA Damage; lymphoma, Non-Hodgkin's; diabetic neuropathy; Neoplasms; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; Aging/ Telomere Length; Cerebral Hemorrhage; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Calcinosis|Coronary Disease|Coronary heart disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Diabetes mellitus; lung cancer; prostate cancer; Drug-Induced Liver Injury; Mouth Neoplasms|Substance-Related Disorders; head and neck cancer; non-Hodgkin lymphoma; cognitive trait; Occupational Diseases; normal variation; diabetes, type 2; liver disease; bladder cancer; atherosclerosis, generalized; vascular disease; Cardiomyopathy, Dilated; smoking; Poisoning; cervical intraepithelial neoplasia grade 3; Acquired Immunodeficiency Syndrome|Disease Progression; Malnutrition; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; benzene haematotoxicity; aging and longevity; lymphoma lymphoma, non-Hodgkin; Pulmonary Disease, Chronic Obstructive; null; personality traits; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; schizophrenia; Lymphoma, Non-Hodgkin; Alzheimer's disease; DNA damage; Delayed Graft Function|Kidney Diseases Homozygotes for targeted null mutations show increased sensitivity to the oxidative stress agents paraquat and hydrogen peroxide and to ischemia/reperfusion and cold-induced brain injury. Mutants also show paradoxical bradykinin-induced vasoconstriction. Purine catabolism GO:0000302;response to reactive oxygen species;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001885;endothelial cell development;IEA|GO:0002862;negative regulation of inflammatory response to antigenic stimulus;IEA|GO:0006195;purine nucleotide catabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006749;glutathione metabolic process;IDA|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008283;cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009410;response to xenobiotic stimulus;IEA|GO:0009609;response to symbiotic bacterium;IEA|GO:0009611;response to wounding;IEA|GO:0009636;response to toxic substance;IEA|GO:0009650;UV protection;IMP|GO:0010269;response to selenium ion;IMP|GO:0010332;response to gamma radiation;IEA|GO:0014902;myotube differentiation;IEA|GO:0018158;protein oxidation;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0033194;response to hydroperoxide;IEA|GO:0033599;regulation of mammary gland epithelial cell proliferation;IMP|GO:0034599;cellular response to oxidative stress;TAS|GO:0040029;regulation of gene expression, epigenetic;IDA|GO:0042311;vasodilation;IEA|GO:0042542;response to hydrogen peroxide;IMP|GO:0042744;hydrogen peroxide catabolic process;IDA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043534;blood vessel endothelial cell migration;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045454;cell redox homeostasis;IDA|GO:0048741;skeletal muscle fiber development;IEA|GO:0051450;myoblast proliferation;IEA|GO:0051702;interaction with symbiont;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060047;heart contraction;IMP|GO:0060055;angiogenesis involved in wound healing;IEA|GO:0061136;regulation of proteasomal protein catabolic process;IDA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;IMP|GO:0098869;cellular oxidant detoxification;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902176;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1902905;positive regulation of supramolecular fiber organization;ISS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:0097413;Lewy body;IDA GO:0004601;peroxidase activity;IEA|GO:0004602;glutathione peroxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0017124;SH3 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GPX1 https://hpo.jax.org/app/browse/search?q=GPX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138320 http://www.informatics.jax.org/searchtool/Search.do?query=GPX1&submit=Quick%0D%19171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPX1 rs1800668 0.201078 0 0.3479 1 0 0 UTR5 UTR5 UTR5 GPX1(NM_201397:c.-46C>T,NM_000581:c.-46C>T) GPX1(uc021wxw.1:c.-46C>T,uc021wxx.1:c.-46C>T) ENSG00000233276(ENST00000419783:c.-46C>T) Na Na Na Na Na Na Het;G>A 347;1|9 Het;G>A 176;2|5 Hom;G>A 186;0|5 N N - 3 4939634 4939634 T C snp ncRNA_exonic BHLHE40-AS1 rs12493074 0.090655 0 0 1 0 0 ncRNA_exonic downstream ncRNA_exonic BHLHE40-AS1 BHLHE40-AS1 ENSG00000235831 Na Na Na Na Na Na Het;T>C 83;3|4 Ref Hom;T>C 101;0|4 N N - 3 4940736 4940736 C A snp ncRNA_intronic BHLHE40-AS1 rs6808127 0.441094 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic BHLHE40-AS1 BHLHE40-AS1 ENSG00000235831 Na Na Na Na Na Na Het;C>A 78;2|3 Ref Hom;C>A 95;0|3 N N - 3 4942432 4942432 C G snp ncRNA_intronic BHLHE40-AS1 rs71634747 0.340056 0 0.3649 1 0 0 ncRNA_intronic intronic ncRNA_intronic BHLHE40-AS1 BHLHE40-AS1 ENSG00000235831 Na Na Na Na Na Na Het;C>G 67;7|3 Het;C>G 113;4|4 Hom;C>G 135;0|4 N N - 3 49751754 49751754 T A snp intronic RNF123 Rnf123 ENSG00000164068 ring finger protein 123 chr3:49726932-49758962 The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Crohn Disease|Crohn's disease Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF123 https://www.ncbi.nlm.nih.gov/omim/?term=614472 http://www.informatics.jax.org/searchtool/Search.do?query=RNF123&submit=Quick%0D%11181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF123 rs139572865 0.00379393 0 0 1 0 0 intronic intronic intronic RNF123 RNF123 ENSG00000164068 Na Na Na Na Na Na Het;T>A 67;3|3 Ref Hom;T>A 135;0|5 N N - 3 50222926 50222926 T A snp nonsynonymous SNV T1507A L503M aliphatic,hydrophobic,neutral hydrophobic,neutral SEMA3F Sema3f ENSG00000001617 semaphorin 3F chr3:50192478-50226508 This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Myocardial Infarction; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; prostate cancer Inactivation of this locus results in neuronal defects including impaired CNS axon pathfinding, and PNS and limbic system circuitry. Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity and LEC numbers. GO:0001755;neural crest cell migration;IEA|GO:0007411;axon guidance;IDA|GO:0021612;facial nerve structural organization;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050919;negative chemotaxis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0045499;chemorepellent activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SEMA3F https://www.uniprot.org/uniprot/Q13275 https://www.ncbi.nlm.nih.gov/omim/?term=601124 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3F&submit=Quick%0D%283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3F rs1046956 0.765974 0.6338 0.7380 0.08 1 13 exonic exonic exonic SEMA3F SEMA3F ENSG00000001617 nonsynonymous SNV nonsynonymous SNV unknown SEMA3F:NM_004186:exon14:c.T1507A:p.L503M, SEMA3F:uc003cyj.3:exon14:c.T1507A:p.L503M,SEMA3F:uc003cyk.3:exon13:c.T1414A:p.L472M, UNKNOWN Het;T>A 799;31|33 Het;T>A 799;34|36 Hom;T>A 1613;0|60 N N - 3 50223593 50223593 T A snp intronic SEMA3F Sema3f ENSG00000001617 semaphorin 3F chr3:50192478-50226508 This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Myocardial Infarction; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; prostate cancer Inactivation of this locus results in neuronal defects including impaired CNS axon pathfinding, and PNS and limbic system circuitry. Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity and LEC numbers. GO:0001755;neural crest cell migration;IEA|GO:0007411;axon guidance;IDA|GO:0021612;facial nerve structural organization;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050919;negative chemotaxis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0045499;chemorepellent activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SEMA3F https://www.uniprot.org/uniprot/Q13275 https://www.ncbi.nlm.nih.gov/omim/?term=601124 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3F&submit=Quick%0D%283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3F rs2073726 0.402157 0 0 1 0 0 intronic intronic intronic SEMA3F SEMA3F ENSG00000001617 Na Na Na Na Na Na Het;T>A 823;27|29 Het;T>A 430;7|16 Hom;T>A 675;0|20 N N - 3 50223977 50223977 C T snp intronic SEMA3F Sema3f ENSG00000001617 semaphorin 3F chr3:50192478-50226508 This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Myocardial Infarction; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; prostate cancer Inactivation of this locus results in neuronal defects including impaired CNS axon pathfinding, and PNS and limbic system circuitry. Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity and LEC numbers. GO:0001755;neural crest cell migration;IEA|GO:0007411;axon guidance;IDA|GO:0021612;facial nerve structural organization;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050919;negative chemotaxis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0045499;chemorepellent activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SEMA3F https://www.uniprot.org/uniprot/Q13275 https://www.ncbi.nlm.nih.gov/omim/?term=601124 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3F&submit=Quick%0D%283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3F rs11717349 0.401957 0 0 1 0 0 intronic intronic intronic SEMA3F SEMA3F ENSG00000001617 Na Na Na Na Na Na Het;C>T 799;14|29 Het;C>T 470;14|18 Hom;C>T 894;0|31 N N - 3 50224225 50224225 A G snp intronic SEMA3F Sema3f ENSG00000001617 semaphorin 3F chr3:50192478-50226508 This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Myocardial Infarction; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; prostate cancer Inactivation of this locus results in neuronal defects including impaired CNS axon pathfinding, and PNS and limbic system circuitry. Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity and LEC numbers. GO:0001755;neural crest cell migration;IEA|GO:0007411;axon guidance;IDA|GO:0021612;facial nerve structural organization;IEA|GO:0021637;trigeminal nerve structural organization;IEA|GO:0021675;nerve development;IEA|GO:0021785;branchiomotor neuron axon guidance;IEA|GO:0036486;ventral trunk neural crest cell migration;IEA|GO:0048843;negative regulation of axon extension involved in axon guidance;IEA|GO:0048846;axon extension involved in axon guidance;IEA|GO:0050919;negative chemotaxis;IEA|GO:0061549;sympathetic ganglion development;IEA|GO:0097490;sympathetic neuron projection extension;IEA|GO:0097491;sympathetic neuron projection guidance;IEA|GO:1901166;neural crest cell migration involved in autonomic nervous system development;IEA|GO:1902285;semaphorin-plexin signaling pathway involved in neuron projection guidance;IEA|GO:1902287;semaphorin-plexin signaling pathway involved in axon guidance;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0045499;chemorepellent activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SEMA3F https://www.uniprot.org/uniprot/Q13275 https://www.ncbi.nlm.nih.gov/omim/?term=601124 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3F&submit=Quick%0D%283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3F rs12632110 0.595647 0.6217 0.6563 1 0 0 intronic intronic intronic SEMA3F SEMA3F ENSG00000001617 Na Na Na Na Na Na Het;A>G 387;26|17 Het;A>G 435;32|21 Hom;A>G 1181;0|45 N N - 3 50289853 50289853 C T snp synonymous SNV C138T S46S polar,hydrophilic,neutral polar,hydrophilic,neutral GNAI2 Gnai2 ENSG00000114353 G protein subunit alpha i2 chr3:50263724-50296787 The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Type 2 Diabetes| edema | rosiglitazone; Adenoma, Acidophil|Adenoma, Chromophobe|Pituitary Neoplasms; blood pressure, arterial; schizophrenia Nullizygous mice exhibit growth retardation, lethal ulcerative colitis, colon adenocarcinomas, granulocytosis, altered thymocyte maturation and function and enhanced production of pro-inflammatory cytokines, and may show alterations in leukocyte physiology and susceptibility to parasitic infection. Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0000186;activation of MAPKK activity;IEA|GO:0001973;adenosine receptor signaling pathway;IBA|GO:0006457;protein folding;TAS|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007194;negative regulation of adenylate cyclase activity;TAS|GO:0007213;G-protein coupled acetylcholine receptor signaling pathway;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IBA|GO:0007584;response to nutrient;TAS|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0051301;cell division;IEA|GO:0051924;regulation of calcium ion transport;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030425;dendrite;IEA|GO:0030496;midbody;IDA|GO:0044297;cell body;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GNAI2 https://www.uniprot.org/uniprot/P04899 https://hpo.jax.org/app/browse/search?q=GNAI2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=139360 http://www.informatics.jax.org/searchtool/Search.do?query=GNAI2&submit=Quick%0D%4455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAI2 rs762707 0.00878594 0.0187 0.0191 1 0 0 exonic exonic exonic GNAI2 GNAI2 ENSG00000114353 synonymous SNV synonymous SNV unknown GNAI2:NM_001282620:exon3:c.C138T:p.S46S,GNAI2:NM_002070:exon3:c.C186T:p.S62S,GNAI2:NM_001282617:exon3:c.C30T:p.S10S,GNAI2:NM_001282619:exon4:c.C138T:p.S46S,GNAI2:NM_001166425:exon3:c.C75T:p.S25S, GNAI2:uc003cyp.1:exon3:c.C138T:p.S46S,GNAI2:uc011bdn.2:exon3:c.C75T:p.S25S,GNAI2:uc003cyq.1:exon3:c.C186T:p.S62S,GNAI2:uc003cyo.1:exon4:c.C138T:p.S46S, UNKNOWN Het;C>T 2151;103|95 Het;C>T 1249;61|58 Hom;C>T 3240;2|116 N N - 3 50329715 50329715 C A snp synonymous SNV G183T P61P hydrophobic,neutral hydrophobic,neutral IFRD2 Ifrd2 ENSG00000214706 interferon related developmental regulator 2 chr3:50325163-50330349 lung cancer GO:0005634;nucleus;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFRD2 https://www.ncbi.nlm.nih.gov/omim/?term=602725 http://www.informatics.jax.org/searchtool/Search.do?query=IFRD2&submit=Quick%0D%18268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFRD2 rs199593825 0.000599042 0.0004 0.0040 1 0 0 exonic exonic exonic IFRD2 IFRD2 ENSG00000214706 synonymous SNV synonymous SNV unknown IFRD2:NM_006764:exon1:c.G183T:p.P61P, IFRD2:uc011bdp.2:exon1:c.G183T:p.P61P,IFRD2:uc003czb.3:exon4:c.G489T:p.P163P, UNKNOWN Het;C>A 965;49|42 Het;C>A 813;40|40 Hom;C>A 1636;0|61 N N - 3 50380132 50380132 G A snp UTR3 *3004C>T AB209621 rs146242904 0.000599042 0 0.0014 1 0 0 intronic UTR3 ncRNA_intronic ZMYND10 AB209621(uc031rzy.1:c.*3004C>T) ENSG00000235058 Na Na Na Na Na Na Het;G>A 703;23|24 Het;G>A 160;6|8 Hom;G>A 269;0|8 N N - 3 50382811 50382811 C T snp UTR3 *325G>A AB209621 Na 0 0 0 1 0 0 intronic UTR3 ncRNA_intronic ZMYND10 AB209621(uc031rzy.1:c.*325G>A) ENSG00000235058 Na Na Na Na Na Na Het;C>T 348;11|13 Het;C>T 98;10|5 Hom;C>T 700;0|20 N N - 3 50553156 50553156 A G snp intergenic CACNA2D2 Cacna2d2 ENSG00000007402 calcium voltage-gated channel auxiliary subunit alpha2delta 2 chr3:50400233-50541675 Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007528;neuromuscular junction development;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0048747;muscle fiber development;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0060024;rhythmic synaptic transmission;IEA|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D2 https://www.uniprot.org/uniprot/Q9NY47 https://www.ncbi.nlm.nih.gov/omim/?term=607082 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D2&submit=Quick%0D%448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D2 rs35694819 0.140575 0 0 1 0 0 intergenic intergenic intergenic CACNA2D2(dist=11481),C3orf18(dist=42300) CACNA2D2(dist=12264),C3orf18(dist=42300) ENSG00000007402(dist=11481),ENSG00000088543(dist=42306) Na Na Na Na Na Na Het;A>G 65;6|3 Het;A>G 86;4|5 Hom;A>G 455;0|13 N N - 3 50685574 50685575 CA C indel UTR3 *97_*98delinsC MAPKAPK3 Mapkapk3 ENSG00000114738 mitogen-activated protein kinase-activated protein kinase 3 chr3:50648951-50686720 This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] Hepatitis C, Chronic; Type 2 Diabetes| edema | rosiglitazone; schizophrenia Mice homozygous for a knock-out allele are viable and fertile and display normal tissue morphology, behavior, and LPS-induced production of cytokines. Eyes of homozygous null mice show defects in Bruch's membrane, with disorganized architecture and variability in thickness. activated TAK1 mediates p38 MAPK activation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0002224;toll-like receptor signaling pathway;ISS|GO:0006468;protein phosphorylation;IEA|GO:0006950;response to stress;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007265;Ras protein signal transduction;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032496;response to lipopolysaccharide;ISS|GO:0034097;response to cytokine;IDA|GO:0044351;macropinocytosis;ISS|GO:0046777;protein autophosphorylation;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004683;calmodulin-dependent protein kinase activity;IBA|GO:0004708;MAP kinase kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IBA|GO:0005524;ATP binding;IEA|GO:0009931;calcium-dependent protein serine/threonine kinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPKAPK3 https://www.uniprot.org/uniprot/Q16644 https://hpo.jax.org/app/browse/search?q=MAPKAPK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602130 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKAPK3&submit=Quick%0D%4494ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKAPK3 rs35676349 0.221645 0 0 1 0 0 UTR3 UTR3 UTR3 MAPKAPK3(NM_001243926:c.*97_*98delinsC,NM_004635:c.*97_*98delinsC,NM_001243925:c.*97_*98delinsC) MAPKAPK3(uc003day.2:c.*97_*98delinsC,uc003daz.2:c.*97_*98delinsC,uc003dba.2:c.*97_*98delinsC,uc010hlr.2:c.*97_*98delinsC) ENSG00000114738(ENST00000446044:c.*97_*98delinsC,ENST00000357955:c.*97_*98delinsC,ENST00000451680:c.*97_*98delinsC) Na Na Na Na Na Na Het;-A 124;5|6 Het;-A 235;7|10 Hom;-A 220;0|8 N N - 3 51274902 51274902 T TA indel intronic DOCK3 Dock3 ENSG00000088538 dedicator of cytokinesis 3 chr3:50712672-51421629 This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010] Tobacco Use Disorder; Crohn Disease|Crohn's disease; Body Height; attention deficit hyperactivity disorder-like phenotype; ADHD | attention-deficit hyperactivity disorder; Autism Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy. Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK3 https://www.uniprot.org/uniprot/Q8IZD9 https://hpo.jax.org/app/browse/search?q=DOCK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603123 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK3&submit=Quick%0D%2004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK3 rs11386090 0.264776 0.4155 0.4616 1 0 0 intronic intronic intronic DOCK3 DOCK3 ENSG00000088538 Na Na Na Na Na Na Het;+A 339;12|12 Het;+A 334;25|13 Hom;+A 1653;0|43 N N - 3 51978640 51978640 G A snp intronic PARP3 Parp3 ENSG00000041880 poly(ADP-ribose) polymerase family member 3 chr3:51976361-51982883 The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] E-Selectin; Type 2 Diabetes| edema | rosiglitazone; bladder cancer; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele exhibit normal survival. GO:0000723;telomere maintenance;IMP|GO:0006273;lagging strand elongation;IBA|GO:0006281;DNA repair;TAS|GO:0006302;double-strand break repair;IEA|GO:0006471;protein ADP-ribosylation;IEA|GO:0051103;DNA ligation involved in DNA repair;IBA|GO:0051106;positive regulation of DNA ligation;IGI|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1990166;protein localization to site of double-strand break;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0035861;site of double-strand break;IDA GO:0003824;catalytic activity;TAS|GO:0003910;DNA ligase (ATP) activity;IBA|GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARP3 https://www.uniprot.org/uniprot/Q9Y6F1 https://www.ncbi.nlm.nih.gov/omim/?term=607726 http://www.informatics.jax.org/searchtool/Search.do?query=PARP3&submit=Quick%0D%827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP3 rs4687792 0.167931 0.0786 0.1684 1 0 0 intronic intronic intronic PARP3 PARP3 ENSG00000041880 Na Na Na Na Na Na Het;G>A 661;15|21 Het;G>A 241;18|10 Hom;G>A 782;0|26 N N - 3 51980193 51980193 C T snp synonymous SNV C1110T F370F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral PARP3 Parp3 ENSG00000041880 poly(ADP-ribose) polymerase family member 3 chr3:51976361-51982883 The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] E-Selectin; Type 2 Diabetes| edema | rosiglitazone; bladder cancer; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele exhibit normal survival. GO:0000723;telomere maintenance;IMP|GO:0006273;lagging strand elongation;IBA|GO:0006281;DNA repair;TAS|GO:0006302;double-strand break repair;IEA|GO:0006471;protein ADP-ribosylation;IEA|GO:0051103;DNA ligation involved in DNA repair;IBA|GO:0051106;positive regulation of DNA ligation;IGI|GO:0060236;regulation of mitotic spindle organization;IMP|GO:1990166;protein localization to site of double-strand break;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0035861;site of double-strand break;IDA GO:0003824;catalytic activity;TAS|GO:0003910;DNA ligase (ATP) activity;IBA|GO:0003950;NAD+ ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARP3 https://www.uniprot.org/uniprot/Q9Y6F1 https://www.ncbi.nlm.nih.gov/omim/?term=607726 http://www.informatics.jax.org/searchtool/Search.do?query=PARP3&submit=Quick%0D%827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP3 rs201871119 0.000798722 0.0009 0.0013 1 0 0 exonic exonic exonic PARP3 PARP3 ENSG00000041880 synonymous SNV synonymous SNV unknown PARP3:NM_005485:exon9:c.C1110T:p.F370F,PARP3:NM_001003931:exon9:c.C1131T:p.F377F, PARP3:uc003dbz.3:exon9:c.C1131T:p.F377F,PARP3:uc003dby.3:exon9:c.C1110T:p.F370F, UNKNOWN Het;C>T 1751;64|76 Het;C>T 1060;53|50 Hom;C>T 3088;2|111 N N - 3 52097060 52097060 C T snp ncRNA_exonic LINC00696 rs4687608 0.213059 0 0.1733 1 0 0 ncRNA_exonic ncRNA_exonic downstream LINC00696 LINC00696 ENSG00000256097 Na Na Na Na Na Na Het;C>T 1114;65|48 Het;C>T 1108;25|40 Hom;C>T 2183;0|80 N N - 3 52109841 52109841 T C snp UTR3 *62A>G POC1A Poc1a ENSG00000164087 POC1 centriolar protein A chr3:52109269-52188706 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] Short Stature Onychodysplasia Facial Dysmorphism and Hypotrichosis Syndrome Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility. GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0007052;mitotic spindle organization;IEA|GO:0007283;spermatogenesis;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0030030;cell projection organization;IEA|GO:0060348;bone development;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1A https://hpo.jax.org/app/browse/search?q=POC1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614783 http://www.informatics.jax.org/searchtool/Search.do?query=POC1A&submit=Quick%0D%11191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1A rs731684 0.334065 0 0 1 0 0 UTR3 UTR3 UTR3 POC1A(NM_001161580:c.*62A>G,NM_001161581:c.*62A>G,NM_015426:c.*62A>G) POC1A(uc003dcv.3:c.*62A>G,uc003dcu.3:c.*62A>G,uc003dcw.3:c.*62A>G) ENSG00000164087(ENST00000296484:c.*62A>G,ENST00000394970:c.*62A>G,ENST00000474012:c.*62A>G) Na Na Na Na Na Na Het;T>C 223;12|11 Het;T>C 167;12|7 Hom;T>C 573;0|18 N N - 3 52172214 52172214 G A snp nonsynonymous SNV C670T R224W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral POC1A Poc1a ENSG00000164087 POC1 centriolar protein A chr3:52109269-52188706 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] Short Stature Onychodysplasia Facial Dysmorphism and Hypotrichosis Syndrome Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility. GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0007052;mitotic spindle organization;IEA|GO:0007283;spermatogenesis;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0030030;cell projection organization;IEA|GO:0060348;bone development;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1A https://hpo.jax.org/app/browse/search?q=POC1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614783 http://www.informatics.jax.org/searchtool/Search.do?query=POC1A&submit=Quick%0D%11191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1A rs146976547 0 0.0002 0.0002 0.69 9 13 exonic exonic exonic POC1A POC1A ENSG00000164087 nonsynonymous SNV nonsynonymous SNV unknown POC1A:NM_001161581:exon7:c.C670T:p.R224W,POC1A:NM_001161580:exon7:c.C784T:p.R262W,POC1A:NM_015426:exon7:c.C784T:p.R262W, POC1A:uc003dcv.3:exon7:c.C670T:p.R224W,POC1A:uc003dcu.3:exon7:c.C784T:p.R262W,POC1A:uc003dcw.3:exon7:c.C784T:p.R262W, UNKNOWN Het;G>A 1580;68|71 Het;G>A 1431;85|67 Hom;G>A 3619;2|132 N N - 3 52188308 52188308 T C snp intronic POC1A Poc1a ENSG00000164087 POC1 centriolar protein A chr3:52109269-52188706 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] Short Stature Onychodysplasia Facial Dysmorphism and Hypotrichosis Syndrome Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility. GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0007052;mitotic spindle organization;IEA|GO:0007283;spermatogenesis;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0030030;cell projection organization;IEA|GO:0060348;bone development;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1A https://hpo.jax.org/app/browse/search?q=POC1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614783 http://www.informatics.jax.org/searchtool/Search.do?query=POC1A&submit=Quick%0D%11191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1A rs6777340 0.340855 0.2073 0 1 0 0 intronic intronic intronic POC1A POC1A ENSG00000164087 Na Na Na Na Na Na Het;T>C 492;18|21 Het;T>C 245;16|14 Hom;T>C 1216;0|47 N N - 3 52228496 52228496 T C snp ncRNA_exonic ALDOAP1 rs524986 0.466254 0 0 1 0 0 intergenic intergenic ncRNA_exonic POC1A(dist=39790),ALAS1(dist=3603) POC1A(dist=39790),ALAS1(dist=3603) ENSG00000242849 Na Na Na Na Na Na Het;T>C 150;2|5 Ref Hom;T>C 196;0|7 N N - 3 52232979 52232979 A ATTTAC indel intronic ALAS1 Alas1 ENSG00000023330 5'-aminolevulinate synthase 1 chr3:52232102-52248343 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a reporter allele exhibit embryonic lethality. Transcriptional activation of mitochondrial biogenesis GO:0006778;porphyrin-containing compound metabolic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0007005;mitochondrion organization;TAS|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA GO:0003824;catalytic activity;IEA|GO:0003870;5-aminolevulinate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALAS1 https://www.uniprot.org/uniprot/P13196 https://www.ncbi.nlm.nih.gov/omim/?term=125290 http://www.informatics.jax.org/searchtool/Search.do?query=ALAS1&submit=Quick%0D%683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAS1 rs3216487 0.463259 0 0 1 0 0 intronic intronic intronic ALAS1 ALAS1 ENSG00000023330 Na Na Na Na Na Na Het;+TTTAC 364;9|11 Het;+TTTAC 137;12|5 Hom;+TTTAC 715;0|17 N N - 3 52236762 52236762 G A snp intronic ALAS1 Alas1 ENSG00000023330 5'-aminolevulinate synthase 1 chr3:52232102-52248343 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a reporter allele exhibit embryonic lethality. Transcriptional activation of mitochondrial biogenesis GO:0006778;porphyrin-containing compound metabolic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0007005;mitochondrion organization;TAS|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA GO:0003824;catalytic activity;IEA|GO:0003870;5-aminolevulinate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALAS1 https://www.uniprot.org/uniprot/P13196 https://www.ncbi.nlm.nih.gov/omim/?term=125290 http://www.informatics.jax.org/searchtool/Search.do?query=ALAS1&submit=Quick%0D%683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAS1 rs352169 0.400759 0.4753 0.4937 1 0 0 intronic intronic intronic ALAS1 ALAS1 ENSG00000023330 Na Na Na Na Na Na Het;G>A 564;10|24 Het;G>A 482;4|21 Hom;G>A 1402;0|52 N N - 3 52237970 52237970 C T snp synonymous SNV C519T I173I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ALAS1 Alas1 ENSG00000023330 5'-aminolevulinate synthase 1 chr3:52232102-52248343 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a reporter allele exhibit embryonic lethality. Transcriptional activation of mitochondrial biogenesis GO:0006778;porphyrin-containing compound metabolic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0007005;mitochondrion organization;TAS|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA GO:0003824;catalytic activity;IEA|GO:0003870;5-aminolevulinate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALAS1 https://www.uniprot.org/uniprot/P13196 https://www.ncbi.nlm.nih.gov/omim/?term=125290 http://www.informatics.jax.org/searchtool/Search.do?query=ALAS1&submit=Quick%0D%683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAS1 rs352168 0.398363 0.4726 0.4812 1 0 0 exonic exonic exonic ALAS1 ALAS1 ENSG00000023330 synonymous SNV synonymous SNV unknown ALAS1:NM_000688:exon5:c.C519T:p.I173I,ALAS1:NM_199166:exon4:c.C519T:p.I173I,ALAS1:NM_001304443:exon4:c.C519T:p.I173I,ALAS1:NM_001304444:exon5:c.C570T:p.I190I, ALAS1:uc003dcz.2:exon4:c.C519T:p.I173I,ALAS1:uc011bec.2:exon5:c.C570T:p.I190I,ALAS1:uc003dcy.2:exon5:c.C519T:p.I173I, UNKNOWN Het;C>T 1136;93|59 Het;C>T 903;70|46 Hom;C>T 3148;0|119 N N - 3 52238656 52238656 T C snp intronic ALAS1 Alas1 ENSG00000023330 5'-aminolevulinate synthase 1 chr3:52232102-52248343 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a reporter allele exhibit embryonic lethality. Transcriptional activation of mitochondrial biogenesis GO:0006778;porphyrin-containing compound metabolic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0007005;mitochondrion organization;TAS|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA GO:0003824;catalytic activity;IEA|GO:0003870;5-aminolevulinate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALAS1 https://www.uniprot.org/uniprot/P13196 https://www.ncbi.nlm.nih.gov/omim/?term=125290 http://www.informatics.jax.org/searchtool/Search.do?query=ALAS1&submit=Quick%0D%683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAS1 rs352167 0.460663 0 0 1 0 0 intronic intronic intronic ALAS1 ALAS1 ENSG00000023330 Na Na Na Na Na Na Het;T>C 133;11|5 Het;T>C 259;8|10 Hom;T>C 259;0|8 N N - 3 52238677 52238677 C T snp intronic ALAS1 Alas1 ENSG00000023330 5'-aminolevulinate synthase 1 chr3:52232102-52248343 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a reporter allele exhibit embryonic lethality. Transcriptional activation of mitochondrial biogenesis GO:0006778;porphyrin-containing compound metabolic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0007005;mitochondrion organization;TAS|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0033014;tetrapyrrole biosynthetic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA GO:0003824;catalytic activity;IEA|GO:0003870;5-aminolevulinate synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALAS1 https://www.uniprot.org/uniprot/P13196 https://www.ncbi.nlm.nih.gov/omim/?term=125290 http://www.informatics.jax.org/searchtool/Search.do?query=ALAS1&submit=Quick%0D%683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAS1 rs352166 0.410743 0.4788 0.5065 1 0 0 intronic intronic intronic ALAS1 ALAS1 ENSG00000023330 Na Na Na Na Na Na Het;C>T 177;15|7 Het;C>T 268;13|11 Hom;C>T 515;0|18 N N - 3 52256697 52256697 C T snp synonymous SNV G1635A P545P hydrophobic,neutral hydrophobic,neutral TLR9 Tlr9 ENSG00000239732 toll like receptor 9 chr3:52255097-52265206 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008] lupus erythematosus; Tuberculosis; multiple sclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Dengue Hemorrhagic Fever; Lupus Nephritis|Nephritis SLE; HIV-1 viral load; Hemorrhagic Fever, Crimean; atherosclerosis, coronary; Asthma|; periodontitis; Cardiovascular Diseases; Behcet Syndrome; Common Variable Immunodeficiency; tuberculosis ; Sarcoidosis; Aspergillosis|; Chagas Cardiomyopathy|; Crohn Disease|; schizophrenia; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; breast cancer ; dermatitis and eczema; Endometrial Neoplasms; malaria; Malaria|Parasitemia; Colitis, Ulcerative|Crohn Disease|; Respiratory Syncytial Virus Infections; Malaria, Falciparum; Crohn Disease|Crohn's disease; lung cancer ; cirrhosis, biliary primary; HIV Infections|[X]Human immunodeficiency virus disease; malaria, plasmodium falciparum; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Infection|Inflammation|Premature Birth; prostate cancer; pouchitis; Type 2 Diabetes| edema | rosiglitazone; lymphoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammation|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic ulcerative colitis|Colitis, Ulcerative; HIV; Virus Diseases; Meningeal Neoplasms|meningioma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atopy; Hypersensitivity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Stomach Neoplasms; Malaria, Falciparum|Parasitemia; Lupus Erythematosus, Systemic; asthma; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms; Crohn's disease; Aspergillosis|Aspergillosis, Allergic Bronchopulmonary|Lung Diseases, Fungal; Ocular Toxoplasmosis|Toxoplasmosis, Ocular; null; Hepatitis C|Remission, Spontaneous; atherosclerosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; hereditary hemochromatosis; respiratory syncytial virus bronchiolitis; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Cytomegalovirus Infections; sarcoidosis tuberculosis; Dermatitis, Atopic|; Malaria, Cerebral; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis Obliterans; HIV Infections; Arthritis, Rheumatoid|Rheumatoid Arthritis; myocardial infarct; asthma; thromboembolism, venous; chronic obstructive pulmonary disease/COPD; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Nullizygous mice exhibit impaired immune responses to CpG DNA and altered susceptibility to EAE and parasitic infection. ENU-induced mutants may exhibit altered susceptibility to viral infection or induced colitis and impaired immune response to unmethylated CpG oligonucleotides. MyD88 dependent cascade initiated on endosome GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002237;response to molecule of bacterial origin;TAS|GO:0002376;immune system process;IEA|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007409;axonogenesis;IBA|GO:0010628;positive regulation of gene expression;IDA|GO:0030277;maintenance of gastrointestinal epithelium;ISS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032640;tumor necrosis factor production;IDA|GO:0032715;negative regulation of interleukin-6 production;ISS|GO:0032717;negative regulation of interleukin-8 production;IDA|GO:0032722;positive regulation of chemokine production;IDA|GO:0032725;positive regulation of granulocyte macrophage colony-stimulating factor production;IDA|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0032733;positive regulation of interleukin-10 production;ISS|GO:0032735;positive regulation of interleukin-12 production;ISS|GO:0032741;positive regulation of interleukin-18 production;ISS|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0034122;negative regulation of toll-like receptor signaling pathway;IDA|GO:0034123;positive regulation of toll-like receptor signaling pathway;IDA|GO:0034162;toll-like receptor 9 signaling pathway;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042346;positive regulation of NF-kappaB import into nucleus;IDA|GO:0042742;defense response to bacterium;NAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0045087;innate immune response;TAS|GO:0045356;positive regulation of interferon-alpha biosynthetic process;IDA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046330;positive regulation of JNK cascade;IC|GO:0050707;regulation of cytokine secretion;IEA|GO:0050729;positive regulation of inflammatory response;IC|GO:0050829;defense response to Gram-negative bacterium;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;ISS|GO:1901895;negative regulation of calcium-transporting ATPase activity;IDA GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;NAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032009;early phagosome;ISS|GO:0036020;endolysosome membrane;TAS|GO:0045335;phagocytic vesicle;IEA GO:0004888;transmembrane signaling receptor activity;IEA|GO:0005149;interleukin-1 receptor binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0035197;siRNA binding;IMP|GO:0042803;protein homodimerization activity;ISS|GO:0045322;unmethylated CpG binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TLR9 https://www.ncbi.nlm.nih.gov/omim/?term=605474 http://www.informatics.jax.org/searchtool/Search.do?query=TLR9&submit=Quick%0D%19579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLR9 rs352140 0.415535 0.4818 0.4921 1 0 0 exonic exonic exonic TLR9 TLR9 ENSG00000173366,ENSG00000239732 synonymous SNV synonymous SNV unknown TLR9:NM_017442:exon2:c.G1635A:p.P545P, TLR9:uc003dda.2:exon2:c.G1635A:p.P545P,TLR9:uc003ddb.3:exon5:c.G1926A:p.P642P, UNKNOWN Het;C>T 1963;126|91 Het;C>T 2302;72|99 Hom;C>T 4503;2|163 N N - 3 52258372 52258372 T C snp intronic TLR9 Tlr9 ENSG00000239732 toll like receptor 9 chr3:52255097-52265206 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008] lupus erythematosus; Tuberculosis; multiple sclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Dengue Hemorrhagic Fever; Lupus Nephritis|Nephritis SLE; HIV-1 viral load; Hemorrhagic Fever, Crimean; atherosclerosis, coronary; Asthma|; periodontitis; Cardiovascular Diseases; Behcet Syndrome; Common Variable Immunodeficiency; tuberculosis ; Sarcoidosis; Aspergillosis|; Chagas Cardiomyopathy|; Crohn Disease|; schizophrenia; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; breast cancer ; dermatitis and eczema; Endometrial Neoplasms; malaria; Malaria|Parasitemia; Colitis, Ulcerative|Crohn Disease|; Respiratory Syncytial Virus Infections; Malaria, Falciparum; Crohn Disease|Crohn's disease; lung cancer ; cirrhosis, biliary primary; HIV Infections|[X]Human immunodeficiency virus disease; malaria, plasmodium falciparum; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Infection|Inflammation|Premature Birth; prostate cancer; pouchitis; Type 2 Diabetes| edema | rosiglitazone; lymphoma; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammation|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chronic ulcerative colitis|Colitis, Ulcerative; HIV; Virus Diseases; Meningeal Neoplasms|meningioma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atopy; Hypersensitivity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Stomach Neoplasms; Malaria, Falciparum|Parasitemia; Lupus Erythematosus, Systemic; asthma; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms; Crohn's disease; Aspergillosis|Aspergillosis, Allergic Bronchopulmonary|Lung Diseases, Fungal; Ocular Toxoplasmosis|Toxoplasmosis, Ocular; null; Hepatitis C|Remission, Spontaneous; atherosclerosis; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; hereditary hemochromatosis; respiratory syncytial virus bronchiolitis; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Cytomegalovirus Infections; sarcoidosis tuberculosis; Dermatitis, Atopic|; Malaria, Cerebral; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis Obliterans; HIV Infections; Arthritis, Rheumatoid|Rheumatoid Arthritis; myocardial infarct; asthma; thromboembolism, venous; chronic obstructive pulmonary disease/COPD; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Nullizygous mice exhibit impaired immune responses to CpG DNA and altered susceptibility to EAE and parasitic infection. ENU-induced mutants may exhibit altered susceptibility to viral infection or induced colitis and impaired immune response to unmethylated CpG oligonucleotides. MyD88 dependent cascade initiated on endosome GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002237;response to molecule of bacterial origin;TAS|GO:0002376;immune system process;IEA|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;IEA|GO:0007252;I-kappaB phosphorylation;IDA|GO:0007409;axonogenesis;IBA|GO:0010628;positive regulation of gene expression;IDA|GO:0030277;maintenance of gastrointestinal epithelium;ISS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032640;tumor necrosis factor production;IDA|GO:0032715;negative regulation of interleukin-6 production;ISS|GO:0032717;negative regulation of interleukin-8 production;IDA|GO:0032722;positive regulation of chemokine production;IDA|GO:0032725;positive regulation of granulocyte macrophage colony-stimulating factor production;IDA|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0032733;positive regulation of interleukin-10 production;ISS|GO:0032735;positive regulation of interleukin-12 production;ISS|GO:0032741;positive regulation of interleukin-18 production;ISS|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0034122;negative regulation of toll-like receptor signaling pathway;IDA|GO:0034123;positive regulation of toll-like receptor signaling pathway;IDA|GO:0034162;toll-like receptor 9 signaling pathway;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042346;positive regulation of NF-kappaB import into nucleus;IDA|GO:0042742;defense response to bacterium;NAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043507;positive regulation of JUN kinase activity;IDA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0045087;innate immune response;TAS|GO:0045356;positive regulation of interferon-alpha biosynthetic process;IDA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046330;positive regulation of JNK cascade;IC|GO:0050707;regulation of cytokine secretion;IEA|GO:0050729;positive regulation of inflammatory response;IC|GO:0050829;defense response to Gram-negative bacterium;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;ISS|GO:1901895;negative regulation of calcium-transporting ATPase activity;IDA GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;NAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032009;early phagosome;ISS|GO:0036020;endolysosome membrane;TAS|GO:0045335;phagocytic vesicle;IEA GO:0004888;transmembrane signaling receptor activity;IEA|GO:0005149;interleukin-1 receptor binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0035197;siRNA binding;IMP|GO:0042803;protein homodimerization activity;ISS|GO:0045322;unmethylated CpG binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TLR9 https://www.ncbi.nlm.nih.gov/omim/?term=605474 http://www.informatics.jax.org/searchtool/Search.do?query=TLR9&submit=Quick%0D%19579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLR9 rs352139 0.509984 0.5879 0.5151 1 0 0 intronic intronic intronic TLR9 TLR9 ENSG00000173366,ENSG00000239732 Na Na Na Na Na Na Het;T>C 136;11|5 Het;T>C 241;6|8 Hom;T>C 558;0|16 N N - 3 52266175 52266175 T A snp intronic TWF2 Twf2 ENSG00000247596 twinfilin actin binding protein 2 chr3:52262626-52273276 The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma Mice homozygous for a targeted allele are viable, fertile, and do not display obvious morphological or behavioral abnormalities. GO:0010592;positive regulation of lamellipodium assembly;IMP|GO:0010976;positive regulation of neuron projection development;IMP|GO:0030030;cell projection organization;IEA|GO:0030837;negative regulation of actin filament polymerization;ISS|GO:0032532;regulation of microvillus length;IC|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0042989;sequestering of actin monomers;ISS|GO:0045773;positive regulation of axon extension;IMP|GO:0051016;barbed-end actin filament capping;ISS|GO:0071300;cellular response to retinoic acid;IMP|GO:0071363;cellular response to growth factor stimulus;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0030016;myofibril;ISS|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030426;growth cone;IDA|GO:0032420;stereocilium;ISS|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;ISS|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TWF2 https://www.ncbi.nlm.nih.gov/omim/?term=607433 http://www.informatics.jax.org/searchtool/Search.do?query=TWF2&submit=Quick%0D%19876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TWF2 rs545813365 0.00139776 0 0.0050 1 0 0 intronic intronic intronic TWF2 TWF2 ENSG00000239732,ENSG00000247596 Na Na Na Na Na Na Het;T>A 551;17|15 Het;T>A 536;8|14 Hom;T>A 647;0|15 N N - 3 52266176 52266176 C A snp intronic TWF2 Twf2 ENSG00000247596 twinfilin actin binding protein 2 chr3:52262626-52273276 The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma Mice homozygous for a targeted allele are viable, fertile, and do not display obvious morphological or behavioral abnormalities. GO:0010592;positive regulation of lamellipodium assembly;IMP|GO:0010976;positive regulation of neuron projection development;IMP|GO:0030030;cell projection organization;IEA|GO:0030837;negative regulation of actin filament polymerization;ISS|GO:0032532;regulation of microvillus length;IC|GO:0032956;regulation of actin cytoskeleton organization;IMP|GO:0042989;sequestering of actin monomers;ISS|GO:0045773;positive regulation of axon extension;IMP|GO:0051016;barbed-end actin filament capping;ISS|GO:0071300;cellular response to retinoic acid;IMP|GO:0071363;cellular response to growth factor stimulus;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0030016;myofibril;ISS|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030426;growth cone;IDA|GO:0032420;stereocilium;ISS|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;ISS|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TWF2 https://www.ncbi.nlm.nih.gov/omim/?term=607433 http://www.informatics.jax.org/searchtool/Search.do?query=TWF2&submit=Quick%0D%19876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TWF2 rs559386623 0.00139776 0 0.0051 1 0 0 intronic intronic intronic TWF2 TWF2 ENSG00000239732,ENSG00000247596 Na Na Na Na Na Na Het;C>A 551;17|15 Het;C>A 536;7|14 Hom;C>A 647;0|15 N N - 3 52322797 52322797 A G snp ncRNA_exonic GLYCTK-AS1 rs34228726 0.302117 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic GLYCTK-AS1 GLYCTK ENSG00000242797 Na Na Na Na Na Na Het;A>G 1792;107|73 Het;A>G 2155;101|92 Hom;A>G 4590;1|156 N N - 3 52325759 52325759 A G snp splicing 530-2A>G GLYCTK Glyctk ENSG00000168237 glycerate kinase chr3:52321105-52329272 This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] longevity Fructose catabolism GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008887;glycerate kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLYCTK https://hpo.jax.org/app/browse/search?q=GLYCTK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610516 http://www.informatics.jax.org/searchtool/Search.do?query=GLYCTK&submit=Quick%0D%12218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLYCTK rs2276834 0.508986 0.5491 0.4852 1 0 0 intronic intronic splicing GLYCTK GLYCTK ENSG00000168237(ENST00000486393:exon4:c.530-2A>G) Na Na Na Na Na Na Het;A>G 1852;78|73 Het;A>G 1422;66|60 Hom;A>G 2947;0|98 N N - 3 52386808 52386808 T C snp intronic DNAH1 Dnah1 ENSG00000114841 dynein axonemal heavy chain 1 chr3:52350335-52434507 We speculate that during primate spermiogenesis, those proteins that compose microtubule-based and actin-based vesicle transport systems are actually present in the manchette and might possibly be involved in intramanchette transport. Non-syndromic male infertility due to sperm motility disorder Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia. GO:0003341;cilium movement;IEA|GO:0003351;epithelial cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036159;inner dynein arm assembly;IDA|GO:0060285;cilium-dependent cell motility;NAS|GO:0060294;cilium movement involved in cell motility;IEA|GO:0003341;cilium movement;IEA|GO:0003351;epithelial cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036159;inner dynein arm assembly;IDA|GO:0060285;cilium-dependent cell motility;NAS|GO:0060294;cilium movement involved in cell motility;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0036126;sperm flagellum;IDA|GO:0036156;inner dynein arm;IDA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH1 https://www.uniprot.org/uniprot/Q9P2D7 https://hpo.jax.org/app/browse/search?q=DNAH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603332 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH1&submit=Quick%0D%116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH1 rs62257591 0.0479233 0 0 1 0 0 intronic intronic intronic DNAH1 DNAH1 ENSG00000114841 Na Na Na Na Na Na Het;T>C 641;13|25 Het;T>C 220;11|10 Hom;T>C 1040;0|38 N N - 3 52407041 52407041 C T snp synonymous SNV C6957T H2319H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) DNAH1 Dnah1 ENSG00000114841 dynein axonemal heavy chain 1 chr3:52350335-52434507 We speculate that during primate spermiogenesis, those proteins that compose microtubule-based and actin-based vesicle transport systems are actually present in the manchette and might possibly be involved in intramanchette transport. Non-syndromic male infertility due to sperm motility disorder Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia. GO:0003341;cilium movement;IEA|GO:0003351;epithelial cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036159;inner dynein arm assembly;IDA|GO:0060285;cilium-dependent cell motility;NAS|GO:0060294;cilium movement involved in cell motility;IEA|GO:0003341;cilium movement;IEA|GO:0003351;epithelial cilium movement;IEA|GO:0007018;microtubule-based movement;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036159;inner dynein arm assembly;IDA|GO:0060285;cilium-dependent cell motility;NAS|GO:0060294;cilium movement involved in cell motility;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0036126;sperm flagellum;IDA|GO:0036156;inner dynein arm;IDA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH1 https://www.uniprot.org/uniprot/Q9P2D7 https://hpo.jax.org/app/browse/search?q=DNAH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603332 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH1&submit=Quick%0D%116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH1 rs1546737 0.200479 0.2422 0.2896 1 0 0 exonic exonic exonic DNAH1 DNAH1 ENSG00000114841 synonymous SNV synonymous SNV unknown DNAH1:NM_015512:exon44:c.C6957T:p.H2319H, DNAH1:uc011bef.2:exon44:c.C6957T:p.H2319H, UNKNOWN Het;C>T 1409;100|71 Het;C>T 1242;84|65 Hom;C>T 3531;2|136 N N - 3 52456973 52456973 A G snp intronic PHF7 Phf7 ENSG00000010318 PHD finger protein 7 chr3:52444673-52457657 Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF7 https://www.uniprot.org/uniprot/Q9BWX1 http://www.informatics.jax.org/searchtool/Search.do?query=PHF7&submit=Quick%0D%59ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF7 rs2272088 0.260982 0 0 1 0 0 intronic intronic intronic PHF7 PHF7 ENSG00000010318 Na Na Na Na Na Na Het;A>G 1018;21|38 Het;A>G 863;31|37 Hom;A>G 1483;0|54 N N - 3 52507719 52507719 G C snp intronic NISCH Nisch ENSG00000010322 nischarin chr3:52489134-52527087 This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013] Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio Mice homozygous for either a knock-out or hypomorphic allele exhibit hearing loss associated with increased susceptibility to otitis media. GO:0006006;glucose metabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0016601;Rac protein signal transduction;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032228;regulation of synaptic transmission, GABAergic;IEA|GO:0048243;norepinephrine secretion;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0055037;recycling endosome;IEA GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0035091;phosphatidylinositol binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NISCH https://www.uniprot.org/uniprot/Q9Y2I1 https://www.ncbi.nlm.nih.gov/omim/?term=615507 http://www.informatics.jax.org/searchtool/Search.do?query=NISCH&submit=Quick%0D%521ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NISCH rs13094915 0.449481 0.4406 0.4238 1 0 0 intronic intronic intronic NISCH NISCH ENSG00000010322 Na Na Na Na Na Na Het;G>C 53;15|5 Het;G>C 363;11|18 Hom;G>C 756;0|31 N N - 3 52539849 52539849 C T snp intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs201198804 0.000399361 0.0003 0.0003 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;C>T 2509;122|110 Het;C>T 1767;95|79 Hom;C>T 4770;0|172 N N - 3 52546820 52546820 C T snp intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs2015971 0.341853 0.3655 0.4254 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;C>T 875;35|36 Het;C>T 745;27|35 Hom;C>T 1371;0|50 N N - 3 52551265 52551265 T C snp intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs66824127 0.459864 0 0 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;T>C 1275;38|34 Het;T>C 1278;23|32 Hom;T>C 2409;0|51 N N - 3 52551284 52551284 G T snp intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs67409736 0.58127 0.5923 0 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;G>T 1442;56|45 Het;G>T 1533;30|44 Hom;G>T 3114;0|83 N N - 3 52552917 52552917 T TCCCGCCCCGCCCCGCCCCGCCCCGCCCCGTCCCGC indel intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 Na 0 0 0 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;+CCCGCCCCGCCCCGCCCCGCCCCGCCCCGTCCCGC 458;10|12 Het;+CCCGCCCCGCCCCGCCCCGCCCCGCCCCGTCCCGC 627;13|17 Hom;+CCCGCCCCGCCCCGCCCCGCCCCGCCCCGTCCCGC 851;0|20 N N - 3 52553625 52553629 TGTAA T indel intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs112646045 0.423722 0.4655 0.4989 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;-GTAA 2767;59|71 Het;-GTAA 1635;51|44 Hom;-GTAA 4735;0|106 N N - 3 52555316 52555316 G A snp intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs13081028 0.545527 0 0 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;G>A 346;15|15 Het;G>A 121;24|7 Hom;G>A 316;0|12 N N - 3 52555957 52555957 T C snp synonymous SNV T6261C R2087R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs9853056 0.563698 0.6143 0.5555 1 0 0 exonic exonic exonic STAB1 STAB1 ENSG00000010327 synonymous SNV synonymous SNV unknown STAB1:NM_015136:exon58:c.T6261C:p.R2087R, STAB1:uc003dek.1:exon8:c.T306C:p.R102R,STAB1:uc003dej.3:exon58:c.T6261C:p.R2087R, UNKNOWN Het;T>C 1976;111|92 Het;T>C 1544;98|73 Hom;T>C 4600;2|170 N N - 3 52556890 52556890 A G snp nonsynonymous SNV A889G I297V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs4434138 0.341254 0.3765 0.4292 0.15 2 13 exonic exonic exonic STAB1 STAB1 ENSG00000010327 nonsynonymous SNV nonsynonymous SNV unknown STAB1:NM_015136:exon62:c.A6844G:p.I2282V, STAB1:uc003dek.1:exon12:c.A889G:p.I297V,STAB1:uc003dej.3:exon62:c.A6844G:p.I2282V,STAB1:uc003del.3:exon6:c.A505G:p.I169V, UNKNOWN Het;A>G 2814;113|115 Het;A>G 2956;83|124 Hom;A>G 5878;0|213 N N - 3 52557038 52557038 C T snp intronic STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs4234633 0.334864 0.3658 0.4246 1 0 0 intronic intronic intronic STAB1 STAB1 ENSG00000010327 Na Na Na Na Na Na Het;C>T 2915;126|135 Het;C>T 2670;85|119 Hom;C>T 5460;0|200 N N - 3 52558008 52558008 T C snp nonsynonymous SNV T7517C M2506T hydrophobic,neutral polar,hydrophilic,neutral STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs13303 0.548522 0.5978 0.5453 0.23 3 13 exonic exonic exonic STAB1 STAB1 ENSG00000010327 nonsynonymous SNV nonsynonymous SNV unknown STAB1:NM_015136:exon67:c.T7517C:p.M2506T, STAB1:uc003dej.3:exon67:c.T7517C:p.M2506T,STAB1:uc003del.3:exon10:c.T1253C:p.M418T, UNKNOWN Het;T>C 2074;79|88 Het;T>C 1792;89|80 Hom;T>C 4361;3|156 N N - 3 52558133 52558133 T C snp synonymous SNV T7560C D2520D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) STAB1 Stab1 ENSG00000010327 stabilin 1 chr3:52529354-52558511 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] schizophrenia Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. Scavenging by Class H Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;NAS|GO:0007267;cell-cell signaling;IDA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0042742;defense response to bacterium;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS GO:0005041;low-density lipoprotein receptor activity;IDA|GO:0005044;scavenger receptor activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA|GO:0015035;protein disulfide oxidoreductase activity;NAS|GO:0030169;low-density lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/STAB1 https://www.uniprot.org/uniprot/Q9NY15 https://www.ncbi.nlm.nih.gov/omim/?term=608560 http://www.informatics.jax.org/searchtool/Search.do?query=STAB1&submit=Quick%0D%522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAB1 rs13621 0.390974 0.4139 0.4369 1 0 0 exonic exonic exonic STAB1 STAB1 ENSG00000010327 synonymous SNV synonymous SNV unknown STAB1:NM_015136:exon68:c.T7560C:p.D2520D, STAB1:uc003dej.3:exon68:c.T7560C:p.D2520D,STAB1:uc003del.3:exon11:c.T1296C:p.D432D, UNKNOWN Het;T>C 4113;228|184 Het;T>C 3372;203|163 Hom;T>C 8792;3|331 N N - 3 52558904 52558904 A T snp intronic NT5DC2 Nt5dc2 ENSG00000168268 5'-nucleotidase domain containing 2 chr3:52558386-52569070 GO:0016311;dephosphorylation;IEA GO:0008253;5'-nucleotidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5DC2 http://www.informatics.jax.org/searchtool/Search.do?query=NT5DC2&submit=Quick%0D%12227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5DC2 rs34005367 0.332268 0.3649 0.4162 1 0 0 intronic intronic intronic NT5DC2 NT5DC2 ENSG00000168268 Na Na Na Na Na Na Het;A>T 2042;104|85 Het;A>T 1271;92|58 Hom;A>T 4106;4|149 N N - 3 52561779 52561779 C T snp intronic NT5DC2 Nt5dc2 ENSG00000168268 5'-nucleotidase domain containing 2 chr3:52558386-52569070 GO:0016311;dephosphorylation;IEA GO:0008253;5'-nucleotidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5DC2 http://www.informatics.jax.org/searchtool/Search.do?query=NT5DC2&submit=Quick%0D%12227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5DC2 rs11711421 0.385783 0.4113 0.4342 1 0 0 intronic intronic intronic NT5DC2 NT5DC2 ENSG00000168268 Na Na Na Na Na Na Het;C>T 2394;76|94 Het;C>T 1793;74|77 Hom;C>T 3319;2|116 N N - 3 52568805 52568805 G T snp UTR5 -136C>A NT5DC2 Nt5dc2 ENSG00000168268 5'-nucleotidase domain containing 2 chr3:52558386-52569070 GO:0016311;dephosphorylation;IEA GO:0008253;5'-nucleotidase activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5DC2 http://www.informatics.jax.org/searchtool/Search.do?query=NT5DC2&submit=Quick%0D%12227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5DC2 rs7639267 0.545128 0 0 1 0 0 UTR5 UTR5 UTR5 NT5DC2(NM_022908:c.-136C>A) NT5DC2(uc010hmj.3:c.-6499C>A,uc003deo.3:c.-136C>A) ENSG00000168268(ENST00000307076:c.-136C>A,ENST00000492555:c.-136C>A) Na Na Na Na Na Na Het;G>T 185;4|7 Het;G>T 76;6|5 Hom;G>T 248;0|8 N N - 3 52584431 52584431 T TCTC indel intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs34372721 0.496605 0.5216 0.5037 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939,ENSG00000168273 Na Na Na Na Na Na Het;+CTC 973;27|26 Het;+CTC 879;7|21 Hom;+CTC 1531;0|33 N N - 3 52584715 52584715 A G snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs2878628 0.398363 0.4182 0.4181 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939,ENSG00000168273 Na Na Na Na Na Na Het;A>G 833;34|31 Het;A>G 784;36|30 Hom;A>G 1395;0|46 N N - 3 52584787 52584787 T C snp synonymous SNV A4335G P1445P hydrophobic,neutral hydrophobic,neutral PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs2251219 0.323083 0.3293 0.3822 1 0 0 exonic exonic exonic PBRM1 PBRM1 ENSG00000163939 synonymous SNV synonymous SNV unknown PBRM1:NM_018313:exon28:c.A4335G:p.P1445P, PBRM1:uc003deq.2:exon26:c.A4335G:p.P1445P,PBRM1:uc003des.2:exon28:c.A4656G:p.P1552P,PBRM1:uc010hmk.1:exon27:c.A4416G:p.P1472P,PBRM1:uc003det.2:exon27:c.A4380G:p.P1460P,PBRM1:uc003dew.2:exon27:c.A4491G:p.P1497P,PBRM1:uc003deu.2:exon28:c.A4545G:p.P1515P,PBRM1:uc003der.2:exon26:c.A4395G:p.P1465P,PBRM1:uc003dey.2:exon28:c.A4335G:p.P1445P, UNKNOWN Het;T>C 849;38|36 Het;T>C 816;38|38 Hom;T>C 1697;0|66 N N - 3 52610415 52610415 T C snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs7652191 0.446685 0 0 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939,ENSG00000168273 Na Na Na Na Na Na Het;T>C 152;4|5 Ref Hom;T>C 172;0|5 N N - 3 52610651 52610651 T A snp synonymous SNV A3522T P1174P hydrophobic,neutral hydrophobic,neutral PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs17264436 0.316094 0.3251 0.3752 1 0 0 exonic exonic exonic PBRM1 PBRM1 ENSG00000163939 synonymous SNV synonymous SNV unknown PBRM1:NM_018313:exon23:c.A3522T:p.P1174P, PBRM1:uc003deq.2:exon22:c.A3597T:p.P1199P,PBRM1:uc003des.2:exon22:c.A3597T:p.P1199P,PBRM1:uc010hmk.1:exon22:c.A3522T:p.P1174P,PBRM1:uc003dez.1:exon22:c.A3594T:p.P1198P,PBRM1:uc003det.2:exon23:c.A3642T:p.P1214P,PBRM1:uc003dew.2:exon22:c.A3597T:p.P1199P,PBRM1:uc003deu.2:exon23:c.A3642T:p.P1214P,PBRM1:uc003der.2:exon21:c.A3501T:p.P1167P,PBRM1:uc003dey.2:exon23:c.A3522T:p.P1174P, UNKNOWN Het;T>A 1310;51|58 Het;T>A 1348;54|65 Hom;T>A 2631;1|97 N N - 3 52621211 52621211 T A snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs866865947 0 0 0 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939 Na Na Na Na Na Na Het;T>A 68;11|4 Het;T>A 58;5|3 Hom;T>A 229;0|7 N N - 3 52621627 52621627 C T snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs3733046 0.446885 0 0 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939 Na Na Na Na Na Na Het;C>T 155;2|6 Het;C>T 154;5|7 Hom;C>T 126;0|4 N N - 3 52637486 52637486 C G snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs2276824 0.570687 0.6248 0.5400 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939 Na Na Na Na Na Na Het;C>G 73;6|3 Het;C>G 111;6|5 Hom;C>G 544;0|18 N N - 3 52643307 52643307 A G snp synonymous SNV T690C F230F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs3733045 0.447883 0.4599 0.4445 1 0 0 intronic exonic intronic PBRM1 PBRM1 ENSG00000163939 Na synonymous SNV Na Na PBRM1:uc003dfc.3:exon2:c.T690C:p.F230F, Na Het;A>G 567;17|22 Het;A>G 828;24|31 Hom;A>G 2101;0|72 N N - 3 52643685 52643685 T C snp synonymous SNV A2211G T737T polar,hydrophilic,neutral polar,hydrophilic,neutral PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs3755806 0.322484 0.3296 0.3820 1 0 0 exonic exonic exonic PBRM1 PBRM1 ENSG00000163939 synonymous SNV synonymous SNV unknown PBRM1:NM_018313:exon17:c.A2211G:p.T737T, PBRM1:uc003deq.2:exon16:c.A2211G:p.T737T,PBRM1:uc003des.2:exon16:c.A2211G:p.T737T,PBRM1:uc010hmk.1:exon16:c.A2211G:p.T737T,PBRM1:uc003dez.1:exon16:c.A2211G:p.T737T,PBRM1:uc003det.2:exon17:c.A2256G:p.T752T,PBRM1:uc003dfc.3:exon2:c.A312G:p.T104T,PBRM1:uc003dfb.1:exon16:c.A1950G:p.T650T,PBRM1:uc003dew.2:exon16:c.A2211G:p.T737T,PBRM1:uc003deu.2:exon17:c.A2256G:p.T752T,PBRM1:uc003dfa.1:exon1:c.A249G:p.T83T,PBRM1:uc003der.2:exon15:c.A2115G:p.T705T,PBRM1:uc003dey.2:exon17:c.A2211G:p.T737T, UNKNOWN Het;T>C 1539;97|73 Het;T>C 1533;103|73 Hom;T>C 5630;0|204 N N - 3 52676190 52676190 A C snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs11130313 0.319089 0 0 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939 Na Na Na Na Na Na Het;A>C 167;4|6 Ref Hom;A>C 162;0|5 N N - 3 52692124 52692124 G A snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs2336149 0.444489 0 0 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939 Na Na Na Na Na Na Het;G>A 256;7|11 Het;G>A 72;7|5 Hom;G>A 208;0|7 N N - 3 52692359 52692359 C G snp intronic PBRM1 Pbrm1 ENSG00000163939 polybromo 1 chr3:52579368-52719933 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] major mood disorders: bipolar, major depression ; Tobacco Use Disorder; Respiratory Function Tests; Adiponectin; bipolar disorder; Mood Disorders Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000278;mitotic cell cycle;TAS|GO:0006338;chromatin remodeling;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0016569;covalent chromatin modification;IEA GO:0000228;nuclear chromosome;NAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0090544;BAF-type complex;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PBRM1 https://www.ncbi.nlm.nih.gov/omim/?term=606083 http://www.informatics.jax.org/searchtool/Search.do?query=PBRM1&submit=Quick%0D%11140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PBRM1 rs2590846 0.319089 0.3297 0.3914 1 0 0 intronic intronic intronic PBRM1 PBRM1 ENSG00000163939 Na Na Na Na Na Na Het;C>G 486;13|21 Het;C>G 94;12|5 Hom;C>G 760;0|25 N N - 3 52720080 52720080 A C snp UTR5 -29A>C GNL3 Gnl3 ENSG00000163938 G protein nucleolar 3 chr3:52715172-52728508 The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] schizophrenia; Bipolar Disorder; Adiponectin Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. Major pathway of rRNA processing in the nucleolus and cytosol GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNL3 https://www.ncbi.nlm.nih.gov/omim/?term=608011 http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3 rs1108842 0.490415 0.5209 0.4929 1 0 0 UTR5 UTR5 UTR5 GNL3(NM_014366:c.-29A>C,NM_206825:c.-728A>C) GNL3(uc003dfd.3:c.-29A>C,uc003dfe.3:c.-728A>C) ENSG00000163938(ENST00000418458:c.-29A>C,ENST00000394799:c.-728A>C,ENST00000492349:c.-29A>C) Na Na Na Na Na Na Het;A>C 898;21|38 Het;A>C 379;40|21 Hom;A>C 1619;0|58 N N - 3 52721305 52721305 G A snp nonsynonymous SNV G80A R27Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral GNL3 Gnl3 ENSG00000163938 G protein nucleolar 3 chr3:52715172-52728508 The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] schizophrenia; Bipolar Disorder; Adiponectin Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. Major pathway of rRNA processing in the nucleolus and cytosol GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNL3 https://www.ncbi.nlm.nih.gov/omim/?term=608011 http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3 rs11177 0.311901 0.3249 0.3749 0.15 2 13 exonic exonic exonic GNL3 GNL3 ENSG00000163938 nonsynonymous SNV nonsynonymous SNV unknown GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q, GNL3:uc003dfe.3:exon3:c.G80A:p.R27Q,GNL3:uc003dfd.3:exon3:c.G116A:p.R39Q,GNL3:uc003dff.3:exon3:c.G80A:p.R27Q, UNKNOWN Het;G>A 1321;69|65 Het;G>A 1223;68|60 Hom;G>A 2684;2|105 N N - 3 52722266 52722267 AT A indel intronic GNL3 Gnl3 ENSG00000163938 G protein nucleolar 3 chr3:52715172-52728508 The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] schizophrenia; Bipolar Disorder; Adiponectin Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. Major pathway of rRNA processing in the nucleolus and cytosol GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNL3 https://www.ncbi.nlm.nih.gov/omim/?term=608011 http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3 rs3836492 0.49381 0.5379 0 1 0 0 intronic intronic intronic GNL3 GNL3 ENSG00000163938 Na Na Na Na Na Na Het;-T 47;2|4 Het;-T 65;3|5 Hom;-T 244;0|11 N N - 3 52726695 52726695 C T snp intronic GNL3 Gnl3 ENSG00000163938 G protein nucleolar 3 chr3:52715172-52728508 The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] schizophrenia; Bipolar Disorder; Adiponectin Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. Major pathway of rRNA processing in the nucleolus and cytosol GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNL3 https://www.ncbi.nlm.nih.gov/omim/?term=608011 http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3 rs6762813 0.311502 0 0 1 0 0 intronic intronic intronic GNL3 GNL3 ENSG00000163938 Na Na Na Na Na Na Het;C>T 611;23|24 Het;C>T 152;21|7 Hom;C>T 1063;0|35 N N - 3 52727257 52727257 G A snp nonsynonymous SNV G1063A V355M aliphatic,hydrophobic,neutral hydrophobic,neutral GNL3 Gnl3 ENSG00000163938 G protein nucleolar 3 chr3:52715172-52728508 The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] schizophrenia; Bipolar Disorder; Adiponectin Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. Major pathway of rRNA processing in the nucleolus and cytosol GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNL3 https://www.ncbi.nlm.nih.gov/omim/?term=608011 http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3 rs2289247 0.445088 0.4602 0.4292 0.08 1 13 exonic exonic exonic GNL3 GNL3 ENSG00000163938 nonsynonymous SNV nonsynonymous SNV unknown GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206826:exon11:c.G1063A:p.V355M, GNL3:uc003dfe.3:exon11:c.G1063A:p.V355M,GNL3:uc003dfd.3:exon11:c.G1099A:p.V367M,GNL3:uc003dff.3:exon11:c.G1063A:p.V355M, UNKNOWN Het;G>A 1627;87|67 Het;G>A 1672;86|76 Hom;G>A 4095;0|148 N N - 3 52728312 52728312 A AT indel UTR3 *21A>AT GNL3 Gnl3 ENSG00000163938 G protein nucleolar 3 chr3:52715172-52728508 The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] schizophrenia; Bipolar Disorder; Adiponectin Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. Major pathway of rRNA processing in the nucleolus and cytosol GO:0008283;cell proliferation;IEA|GO:0017145;stem cell division;IDA|GO:0019827;stem cell population maintenance;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0033235;positive regulation of protein sumoylation;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904816;positive regulation of protein localization to chromosome, telomeric region;IMP GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0048027;mRNA 5'-UTR binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GNL3 https://www.ncbi.nlm.nih.gov/omim/?term=608011 http://www.informatics.jax.org/searchtool/Search.do?query=GNL3&submit=Quick%0D%11139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNL3 rs34699584 0.377596 0.3878 0.3634 1 0 0 UTR3 UTR3 UTR3 GNL3(NM_014366:c.*21A>AT,NM_206825:c.*21A>AT,NM_206826:c.*21A>AT) GNL3(uc003dfd.3:c.*21A>AT,uc003dfe.3:c.*21A>AT,uc003dff.3:c.*21A>AT) ENSG00000163938(ENST00000418458:c.*21A>AT,ENST00000394799:c.*21A>AT) Na Na Na Na Na Na Het;+T 424;19|23 Het;+T 292;28|20 Hom;+T 848;3|38 N N - 3 52728804 52728804 C T snp UTR3 *57G>A GLT8D1 Glt8d1 ENSG00000016864 glycosyltransferase 8 domain containing 1 chr3:52728505-52740048 This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013] Mice homozygous for a disruption in this gene display exhibited impaired sensorimotor gating/attention during prepulse inhibition testing. GO:0000271;polysaccharide biosynthetic process;IBA GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLT8D1 https://www.uniprot.org/uniprot/Q68CQ7 http://www.informatics.jax.org/searchtool/Search.do?query=GLT8D1&submit=Quick%0D%630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT8D1 rs6976 0.304712 0 0.4186 0.17 1 6 UTR3 UTR3 UTR3 GLT8D1(NM_001278281:c.*57G>A,NM_018446:c.*57G>A,NM_001278280:c.*57G>A,NM_152932:c.*57G>A,NM_001010983:c.*57G>A) GLT8D1(uc003dfi.4:c.*57G>A,uc003dfk.3:c.*57G>A,uc003dfl.3:c.*57G>A,uc003dfm.3:c.*57G>A,uc003dfn.3:c.*57G>A) ENSG00000016864(ENST00000478968:c.*57G>A,ENST00000266014:c.*57G>A,ENST00000407584:c.*57G>A,ENST00000394783:c.*57G>A,ENST00000491606:c.*57G>A,ENST00000481643:c.*608G>A) Na Na Na Na Na Na Het;C>T 192;6|7 Het;C>T 168;5|7 Hom;C>T 600;0|20 N N - 3 52740182 52740182 C G snp nonsynonymous SNV C121G P41A hydrophobic,neutral aliphatic,hydrophobic,neutral SPCS1 Spcs1 ENSG00000114902 signal peptidase complex subunit 1 chr3:52738971-52742182 Synthesis, secretion, and deacylation of Ghrelin GO:0006465;signal peptide processing;IEA|GO:0006508;proteolysis;IEA|GO:0045047;protein targeting to ER;IBA GO:0005783;endoplasmic reticulum;IEA|GO:0005787;signal peptidase complex;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043022;ribosome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPCS1 https://www.uniprot.org/uniprot/Q9Y6A9 https://www.ncbi.nlm.nih.gov/omim/?term=610358 http://www.informatics.jax.org/searchtool/Search.do?query=SPCS1&submit=Quick%0D%4517ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPCS1 rs6617 0.445288 0 0.4158 0.09 1 11 exonic exonic exonic SPCS1 SPCS1 ENSG00000114902 nonsynonymous SNV nonsynonymous SNV unknown SPCS1:NM_014041:exon1:c.C121G:p.P41A, SPCS1:uc011bei.2:exon1:c.C121G:p.P41A, UNKNOWN Het;C>G 788;55|41 Het;C>G 553;40|29 Hom;C>G 1541;0|53 N N - 3 52771468 52771468 T C snp intronic NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs6445535 0.457668 0 0 1 0 0 intronic intronic intronic NEK4 NEK4 ENSG00000114904 Na Na Na Na Na Na Het;T>C 103;4|4 Het;T>C 37;4|2 Hom;T>C 255;0|8 N N - 3 52771577 52771577 T C snp nonsynonymous SNV A2320G R774G polar,hydrophilic,charged(+) aliphatic,neutral NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs72960250 0.0157748 0.0148 0.0048 0.09 1 11 intronic exonic exonic NEK4 NEK4 ENSG00000114904 Na nonsynonymous SNV unknown Na NEK4:uc003dfr.3:exon14:c.A2320G:p.R774G, UNKNOWN Het;T>C 681;29|24 Het;T>C 439;30|17 Hom;T>C 1522;2|56 N N - 3 52778347 52778347 T C snp intronic NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs2268026 0.332468 0.3297 0.3879 1 0 0 intronic intronic intronic NEK4 NEK4 ENSG00000114904 Na Na Na Na Na Na Het;T>C 186;26|10 Het;T>C 415;6|18 Hom;T>C 986;0|37 N N - 3 52797634 52797634 G C snp nonsynonymous SNV C673G P225A hydrophobic,neutral aliphatic,hydrophobic,neutral NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs1029871 0.30631 0.3181 0.3727 0.62 8 13 exonic exonic exonic NEK4 NEK4 ENSG00000114904 nonsynonymous SNV nonsynonymous SNV unknown NEK4:NM_001193533:exon4:c.C406G:p.P136A,NEK4:NM_003157:exon5:c.C673G:p.P225A, NEK4:uc003dfr.3:exon5:c.C673G:p.P225A,NEK4:uc003dfq.4:exon5:c.C673G:p.P225A,NEK4:uc011bej.2:exon4:c.C406G:p.P136A, UNKNOWN Het;G>C 421;16|18 Het;G>C 402;19|16 Hom;G>C 866;0|26 N N - 3 52800284 52800284 T C snp synonymous SNV A201G L67L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs2230535 0.332268 0.3305 0.3880 1 0 0 exonic exonic exonic NEK4 NEK4 ENSG00000114904 synonymous SNV synonymous SNV unknown NEK4:NM_001193533:exon2:c.A201G:p.L67L,NEK4:NM_003157:exon3:c.A468G:p.L156L, NEK4:uc003dfr.3:exon3:c.A468G:p.L156L,NEK4:uc003dfq.4:exon3:c.A468G:p.L156L,NEK4:uc011bej.2:exon2:c.A201G:p.L67L, UNKNOWN Het;T>C 1894;99|87 Het;T>C 1552;88|74 Hom;T>C 3618;0|134 N N - 3 52802402 52802402 A C snp synonymous SNV T312G P104P hydrophobic,neutral hydrophobic,neutral NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs2230534 0.33147 0.3306 0.3878 1 0 0 exonic exonic exonic NEK4 NEK4 ENSG00000114904 synonymous SNV synonymous SNV unknown NEK4:NM_003157:exon2:c.T312G:p.P104P, NEK4:uc003dfr.3:exon2:c.T312G:p.P104P,NEK4:uc003dfq.4:exon2:c.T312G:p.P104P, UNKNOWN Het;A>C 1376;46|57 Het;A>C 573;60|29 Hom;A>C 2264;0|79 N N - 3 52804487 52804487 T C snp intronic NEK4 Nek4 ENSG00000114904 NIMA related kinase 4 chr3:52744800-52804965 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Bipolar disorder; Bipolar Disorder; longevity; Chronic renal failure|Kidney Failure, Chronic GO:0000278;mitotic cell cycle;IMP|GO:0006468;protein phosphorylation;TAS|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0051301;cell division;IEA|GO:1900062;regulation of replicative cell aging;IMP|GO:2000772;regulation of cellular senescence;IMP|GO:2001020;regulation of response to DNA damage stimulus;IMP GO:0005737;cytoplasm;IBA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK4 https://www.uniprot.org/uniprot/P51957 https://www.ncbi.nlm.nih.gov/omim/?term=601959 http://www.informatics.jax.org/searchtool/Search.do?query=NEK4&submit=Quick%0D%4518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK4 rs13071584 0.430911 0 0 1 0 0 intronic intronic intronic NEK4 NEK4 ENSG00000114904 Na Na Na Na Na Na Het;T>C 33;4|2 Het;T>C 46;2|2 Hom;T>C 143;0|4 N N - 3 52814256 52814256 T A snp intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs2302417 0.388578 0.3544 0.4716 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;T>A 939;48|45 Het;T>A 732;41|39 Hom;T>A 2668;0|101 N N - 3 52815905 52815905 T C snp intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs2710323 0.521765 0.5451 0.4884 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;T>C 376;18|17 Het;T>C 286;12|11 Hom;T>C 899;0|30 N N - 3 52818579 52818579 G A snp intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs2239551 0.303914 0 0 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;G>A 312;7|15 Het;G>A 159;10|7 Hom;G>A 438;0|15 N N - 3 52819327 52819327 T A snp intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs2268023 0.383387 0 0 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;T>A 307;16|12 Het;T>A 116;10|5 Hom;T>A 628;0|22 N N - 3 52820855 52820859 CGAAT C indel intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs36051478 0.428714 0 0 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;-GAAT 720;12|19 Het;-GAAT 137;10|5 Hom;-GAAT 368;0|9 N N - 3 52820981 52820981 A T snp nonsynonymous SNV A1754T E585V polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs678 0.286941 0.3004 0.3522 0.69 9 13 exonic exonic exonic ITIH1 ITIH1 ENSG00000055957 nonsynonymous SNV nonsynonymous SNV unknown ITIH1:NM_002215:exon14:c.A1754T:p.E585V,ITIH1:NM_001166436:exon10:c.A890T:p.E297V,ITIH1:NM_001166434:exon12:c.A1328T:p.E443V,ITIH1:NM_001166435:exon10:c.A890T:p.E297V, ITIH1:uc003dfs.3:exon14:c.A1754T:p.E585V,ITIH1:uc003dft.3:exon5:c.A557T:p.E186V,ITIH1:uc021wzg.1:exon10:c.A890T:p.E297V,ITIH1:uc021wzh.1:exon10:c.A890T:p.E297V,ITIH1:uc021wzf.1:exon12:c.A1328T:p.E443V, UNKNOWN Het;A>T 3314;67|91 Het;A>T 2470;89|65 Hom;A>T 6770;0|153 N N - 3 52821011 52821011 A G snp nonsynonymous SNV A1784G Q595R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs1042779 0.42472 0.4196 0.3979 0.23 3 13 exonic exonic exonic ITIH1 ITIH1 ENSG00000055957 nonsynonymous SNV nonsynonymous SNV unknown ITIH1:NM_002215:exon14:c.A1784G:p.Q595R,ITIH1:NM_001166436:exon10:c.A920G:p.Q307R,ITIH1:NM_001166434:exon12:c.A1358G:p.Q453R,ITIH1:NM_001166435:exon10:c.A920G:p.Q307R, ITIH1:uc003dfs.3:exon14:c.A1784G:p.Q595R,ITIH1:uc003dft.3:exon5:c.A587G:p.Q196R,ITIH1:uc021wzg.1:exon10:c.A920G:p.Q307R,ITIH1:uc021wzh.1:exon10:c.A920G:p.Q307R,ITIH1:uc021wzf.1:exon12:c.A1358G:p.Q453R, UNKNOWN Het;A>G 3589;84|101 Het;A>G 3233;112|101 Hom;A>G 7942;0|197 N N - 3 52821177 52821177 A C snp intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs2286798 0.35623 0.3621 0.3689 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;A>C 1439;46|59 Het;A>C 1023;45|40 Hom;A>C 3012;0|99 N N - 3 52821992 52821993 CT C indel unknown ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs68094128 0.288339 0.3246 0.3750 1 0 0 intronic intronic exonic ITIH1 ITIH1 ENSG00000055957 Na Na unknown Na Na UNKNOWN Het;-T 1046;65|37 Het;-T 1349;41|43 Hom;-T 2571;2|69 N N - 3 52822509 52822509 G C snp intronic ITIH1 Itih1 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 chr3:52811603-52826078 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Leukocyte Count; schizophrenia; Bipolar Disorder; Bipolar disorder GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030212;hyaluronan metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITIH1 https://www.uniprot.org/uniprot/P19827 https://www.ncbi.nlm.nih.gov/omim/?term=147270 http://www.informatics.jax.org/searchtool/Search.do?query=ITIH1&submit=Quick%0D%1004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITIH1 rs2239550 0.339856 0 0 1 0 0 intronic intronic intronic ITIH1 ITIH1 ENSG00000055957 Na Na Na Na Na Na Het;G>C 179;9|7 Het;G>C 45;3|3 Hom;G>C 389;0|12 N N - 3 53125729 53125729 T TC indel UTR3 *190A>GA RFT1 Rft1 ENSG00000163933 RFT1 homolog chr3:53122499-53164478 This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008] Tobacco Use Disorder Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0034203;glycolipid translocation;IBA GO:0005789;endoplasmic reticulum membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005319;lipid transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RFT1 https://hpo.jax.org/app/browse/search?q=RFT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611908 http://www.informatics.jax.org/searchtool/Search.do?query=RFT1&submit=Quick%0D%11137ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFT1 rs564047932 0.00499201 0 0 1 0 0 UTR3 UTR3 UTR3 RFT1(NM_052859:c.*190A>GA) RFT1(uc003dgj.3:c.*190A>GA) ENSG00000163933(ENST00000296292:c.*190A>GA,ENST00000394738:c.*190A>GA) Na Na Na Na Na Na Het;+C 909;100|54 Het;+C 1504;66|67 Hom;+C 2186;8|95 N N - 3 53700304 53700304 G A snp intronic CACNA1D Cacna1d ENSG00000157388 calcium voltage-gated channel subunit alpha1 D chr3:53528683-53847760 Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Bone Density; Tobacco Use Disorder; diabetes, type 2; Hyperparathyroidism, Secondary; Triglycerides; Hip; Celiac Disease|; Hypertension; Insulin Resistance; Cholesterol, HDL; Metabolism Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;ISS|GO:0007605;sensory perception of sound;IMP|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055085;transmembrane transport;IEA|GO:0060372;regulation of atrial cardiac muscle cell membrane repolarization;ISS|GO:0061337;cardiac conduction;TAS|GO:0070509;calcium ion import;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086012;membrane depolarization during cardiac muscle cell action potential;IC|GO:0086046;membrane depolarization during SA node cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:1901016;regulation of potassium ion transmembrane transporter activity;ISS|GO:1901379;regulation of potassium ion transmembrane transport;ISS GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030018;Z disc;ISS|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0030506;ankyrin binding;ISS|GO:0046872;metal ion binding;IEA|GO:0051393;alpha-actinin binding;IPI|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IC|GO:0086059;voltage-gated calcium channel activity involved SA node cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA1D https://hpo.jax.org/app/browse/search?q=CACNA1D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114206 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1D&submit=Quick%0D%10089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1D rs34646859 0.127196 0 0 1 0 0 intronic intronic intronic CACNA1D CACNA1D ENSG00000157388 Na Na Na Na Na Na Het;G>A 256;13|9 Het;G>A 73;3|3 Hom;G>A 532;0|16 N N - 3 53857676 53857676 C T snp synonymous SNV G360A L120L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CHDH Chdh ENSG00000016391 choline dehydrogenase chr3:53846362-53880417 The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010] orofacial clefts; Acquired Immunodeficiency Syndrome|Disease Progression; Coronary Artery Disease; choline deficiency; Cleft Lip|Cleft Palate; breast cancer Homozygous male mutants show reduced fertility due to reduced sperm motility caused by abnormal mitochondrial function and structures. Choline catabolism GO:0019285;glycine betaine biosynthetic process from choline;IEA|GO:0042426;choline catabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI|GO:0008812;choline dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016614;oxidoreductase activity, acting on CH-OH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHDH https://www.uniprot.org/uniprot/Q8NE62 http://www.informatics.jax.org/searchtool/Search.do?query=CHDH&submit=Quick%0D%627ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHDH rs17053532 0.0585064 0.0919 0.0992 1 0 0 exonic exonic exonic CHDH CHDH ENSG00000016391 synonymous SNV synonymous SNV unknown CHDH:NM_018397:exon3:c.G360A:p.L120L, CHDH:uc003dgz.3:exon3:c.G360A:p.L120L, UNKNOWN Het;C>T 2140;60|97 Het;C>T 1716;60|81 Hom;C>T 3927;1|148 N N - 3 53882661 53882661 A G snp intronic IL17RB Il17rb ENSG00000056736 interleukin 17 receptor B chr3:53880607-53899827 The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Asthma|; Breast Neoplasms; esophageal adenocarcinoma; longevity Mice that are homozygous for a null allele have defects in their response to IL17A or IL17F. In addition this locus is a common site of retoviral integration in BXH2 murine myeloid leukemias and occurred at a CpG island 6 kb upstream of the Il17rb gene. Interleukin-17 signaling GO:0001558;regulation of cell growth;NAS|GO:0006952;defense response;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004896;cytokine receptor activity;NAS|GO:0030368;interleukin-17 receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IL17RB https://www.uniprot.org/uniprot/Q9NRM6 https://www.ncbi.nlm.nih.gov/omim/?term=605458 http://www.informatics.jax.org/searchtool/Search.do?query=IL17RB&submit=Quick%0D%1012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RB rs2232333 0.115615 0.2311 0.2245 1 0 0 intronic intronic intronic IL17RB IL17RB ENSG00000056736 Na Na Na Na Na Na Het;A>G 739;31|32 Het;A>G 774;23|32 Hom;A>G 2352;2|88 N N - 3 53882903 53882903 G C snp intronic IL17RB Il17rb ENSG00000056736 interleukin 17 receptor B chr3:53880607-53899827 The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Asthma|; Breast Neoplasms; esophageal adenocarcinoma; longevity Mice that are homozygous for a null allele have defects in their response to IL17A or IL17F. In addition this locus is a common site of retoviral integration in BXH2 murine myeloid leukemias and occurred at a CpG island 6 kb upstream of the Il17rb gene. Interleukin-17 signaling GO:0001558;regulation of cell growth;NAS|GO:0006952;defense response;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004896;cytokine receptor activity;NAS|GO:0030368;interleukin-17 receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IL17RB https://www.uniprot.org/uniprot/Q9NRM6 https://www.ncbi.nlm.nih.gov/omim/?term=605458 http://www.informatics.jax.org/searchtool/Search.do?query=IL17RB&submit=Quick%0D%1012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RB rs2276839 0.16853 0 0 1 0 0 intronic intronic intronic IL17RB IL17RB ENSG00000056736 Na Na Na Na Na Na Het;G>C 116;2|4 Het;G>C 204;1|7 Hom;G>C 185;0|5 N N - 3 53909880 53909880 T C snp intronic ACTR8 Actr8 ENSG00000113812 ARP8 actin related protein 8 homolog chr3:53901093-53916229 Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. DNA Damage Recognition in GG-NER GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016579;protein deubiquitination;TAS|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005813;centrosome;IDA|GO:0031011;Ino80 complex;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTR8 https://www.uniprot.org/uniprot/Q9H981 http://www.informatics.jax.org/searchtool/Search.do?query=ACTR8&submit=Quick%0D%4412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR8 rs560000877 0 0 0 1 0 0 intronic intronic intronic ACTR8 ACTR8 ENSG00000113812 Na Na Na Na Na Na Het;T>C 153;14|8 Het;T>C 421;5|13 Hom;T>C 394;0|14 N N - 3 54824642 54824642 A G snp intronic CACNA2D3 Cacna2d3 ENSG00000157445 calcium voltage-gated channel auxiliary subunit alpha2delta 3 chr3:54156574-55108584 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Celiac Disease|; Pulse; Leukocyte Count; Waist Circumference; Iron; Myocardial Infarction; Tobacco Use Disorder; Cholesterol, LDL; Body Weight; Lipoproteins; Carotid Artery Diseases; Tunica Media Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0070588;calcium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D3 https://www.ncbi.nlm.nih.gov/omim/?term=606399 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D3&submit=Quick%0D%10094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D3 rs9813975 0.275359 0 0 1 0 0 intronic intronic intronic CACNA2D3 CACNA2D3 ENSG00000157445 Na Na Na Na Na Na Het;A>G 269;4|12 Het;A>G 262;5|14 Hom;A>G 355;0|15 N N - 3 56787451 56787451 C T snp intronic ARHGEF3 Arhgef3 ENSG00000163947 Rho guanine nucleotide exchange factor 3 chr3:56761446-57113357 Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid; mean platelet volume; Body Mass Index; coronary spastic angina; Osteoporosis; Tobacco Use Disorder; Heart Rate; Osteoporosis, Postmenopausal; Platelet Count; osteoporosis Mice homozygous for a knock-out allele exhibit increased mean platelet volume and a mild delay in platelet recovery in response to thrombocytopenia. G alpha (12/13) signalling events GO:0007266;Rho protein signal transduction;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF3 https://www.ncbi.nlm.nih.gov/omim/?term=612115 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF3&submit=Quick%0D%11143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF3 rs3821412 0.782947 0 0 1 0 0 intronic intronic intronic ARHGEF3 ARHGEF3 ENSG00000163947 Na Na Na Na Na Na Het;C>T 227;2|8 Het;C>T 66;3|3 Hom;C>T 253;0|8 N N - 3 57233661 57233661 A T snp intronic HESX1 Hesx1 ENSG00000163666 HESX homeobox 1 chr3:57231944-57260549 This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008] hypopituitarism midline neurological abnormalities optic nerve hypoplasia pituitary dysfunction septooptic dysplasia; isolated congenital pituitary hypoplasia and septo-optic dysplasia; Hypopituitarism|Hypopituitarism NOS; evolving hypopitutarism Homozygous mice show significant perinatal and postnatal lethality. Deficiency is manifested as brain, endocrine/exocrine and sensory organ developmental abnormalities in many embryos. Most mice surviving past birth display eye defects such as anophthalmia or microphthalmia. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;TAS|GO:0021983;pituitary gland development;IMP|GO:0030916;otic vesicle formation;IEA|GO:0043584;nose development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048853;forebrain morphogenesis;IEA GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0047485;protein N-terminus binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HESX1 https://hpo.jax.org/app/browse/search?q=HESX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601802 http://www.informatics.jax.org/searchtool/Search.do?query=HESX1&submit=Quick%0D%11051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HESX1 rs12715498 0.570887 0 0 1 0 0 intronic intronic intronic HESX1 HESX1 ENSG00000163666 Na Na Na Na Na Na Het;A>T 306;2|10 Het;A>T 108;1|4 Hom;A>T 390;0|11 N N - 3 57233679 57233684 ATAAAT A indel intronic HESX1 Hesx1 ENSG00000163666 HESX homeobox 1 chr3:57231944-57260549 This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008] hypopituitarism midline neurological abnormalities optic nerve hypoplasia pituitary dysfunction septooptic dysplasia; isolated congenital pituitary hypoplasia and septo-optic dysplasia; Hypopituitarism|Hypopituitarism NOS; evolving hypopitutarism Homozygous mice show significant perinatal and postnatal lethality. Deficiency is manifested as brain, endocrine/exocrine and sensory organ developmental abnormalities in many embryos. Most mice surviving past birth display eye defects such as anophthalmia or microphthalmia. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;TAS|GO:0021983;pituitary gland development;IMP|GO:0030916;otic vesicle formation;IEA|GO:0043584;nose development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048853;forebrain morphogenesis;IEA GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0047485;protein N-terminus binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HESX1 https://hpo.jax.org/app/browse/search?q=HESX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601802 http://www.informatics.jax.org/searchtool/Search.do?query=HESX1&submit=Quick%0D%11051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HESX1 rs143889572 0.49361 0 0 1 0 0 intronic intronic intronic HESX1 HESX1 ENSG00000163666 Na Na Na Na Na Na Het;-TAAAT 591;7|16 Het;-TAAAT 395;10|11 Hom;-TAAAT 852;0|20 N N - 3 57276258 57276259 GA G indel intronic APPL1 Appl1 ENSG00000157500 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 chr3:57261765-57307496 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2|Insulin Resistance; anthropometric measurements body mass cholesterol cholesterol, HDL cholesterol, LDL fatty acid glycerol insulin triglycerides Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. Ligand-independent caspase activation via DCC GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;IDA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0046324;regulation of glucose import;IMP|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IC|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;TAS|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0016581;NuRD complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043422;protein kinase B binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APPL1 https://hpo.jax.org/app/browse/search?q=APPL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604299 http://www.informatics.jax.org/searchtool/Search.do?query=APPL1&submit=Quick%0D%10099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APPL1 rs11346575 0.449481 0 0 1 0 0 intronic intronic intronic APPL1 APPL1 ENSG00000157500 Na Na Na Na Na Na Het;-A 105;9|7 Het;-A 141;13|9 Hom;-A 525;0|21 N N - 3 57293297 57293297 T C snp intronic APPL1 Appl1 ENSG00000157500 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 chr3:57261765-57307496 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2|Insulin Resistance; anthropometric measurements body mass cholesterol cholesterol, HDL cholesterol, LDL fatty acid glycerol insulin triglycerides Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. Ligand-independent caspase activation via DCC GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;IDA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0046324;regulation of glucose import;IMP|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IC|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;TAS|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0016581;NuRD complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043422;protein kinase B binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APPL1 https://hpo.jax.org/app/browse/search?q=APPL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604299 http://www.informatics.jax.org/searchtool/Search.do?query=APPL1&submit=Quick%0D%10099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APPL1 rs925566 0.464058 0 0 1 0 0 intronic intronic intronic APPL1 APPL1 ENSG00000157500 Na Na Na Na Na Na Het;T>C 191;7|6 Het;T>C 74;7|3 Hom;T>C 179;0|5 N N - 3 57294085 57294085 C G snp intronic APPL1 Appl1 ENSG00000157500 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 chr3:57261765-57307496 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2|Insulin Resistance; anthropometric measurements body mass cholesterol cholesterol, HDL cholesterol, LDL fatty acid glycerol insulin triglycerides Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. Ligand-independent caspase activation via DCC GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;IDA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0046324;regulation of glucose import;IMP|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IC|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;TAS|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0016581;NuRD complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043422;protein kinase B binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APPL1 https://hpo.jax.org/app/browse/search?q=APPL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604299 http://www.informatics.jax.org/searchtool/Search.do?query=APPL1&submit=Quick%0D%10099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APPL1 rs10510791 0.463059 0.3229 0.4609 1 0 0 intronic intronic intronic APPL1 APPL1 ENSG00000157500 Na Na Na Na Na Na Het;C>G 1165;45|47 Het;C>G 772;40|38 Hom;C>G 1949;0|61 N N - 3 57294295 57294295 T C snp intronic APPL1 Appl1 ENSG00000157500 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 chr3:57261765-57307496 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2|Insulin Resistance; anthropometric measurements body mass cholesterol cholesterol, HDL cholesterol, LDL fatty acid glycerol insulin triglycerides Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. Ligand-independent caspase activation via DCC GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;IDA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0046324;regulation of glucose import;IMP|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IC|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;TAS|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0016581;NuRD complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043422;protein kinase B binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APPL1 https://hpo.jax.org/app/browse/search?q=APPL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604299 http://www.informatics.jax.org/searchtool/Search.do?query=APPL1&submit=Quick%0D%10099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APPL1 rs1533272 0.463858 0 0 1 0 0 intronic intronic intronic APPL1 APPL1 ENSG00000157500 Na Na Na Na Na Na Het;T>C 191;23|10 Het;T>C 302;10|12 Hom;T>C 735;0|23 N N - 3 57294884 57294889 CAAATT C indel intronic APPL1 Appl1 ENSG00000157500 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 chr3:57261765-57307496 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2|Insulin Resistance; anthropometric measurements body mass cholesterol cholesterol, HDL cholesterol, LDL fatty acid glycerol insulin triglycerides Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. Ligand-independent caspase activation via DCC GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;IDA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0046324;regulation of glucose import;IMP|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IC|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0010008;endosome membrane;TAS|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0016581;NuRD complex;IDA|GO:0031901;early endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043422;protein kinase B binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APPL1 https://hpo.jax.org/app/browse/search?q=APPL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604299 http://www.informatics.jax.org/searchtool/Search.do?query=APPL1&submit=Quick%0D%10099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APPL1 rs150865255 0.445687 0 0 1 0 0 intronic intronic intronic APPL1 APPL1 ENSG00000157500 Na Na Na Na Na Na Het;-AAATT 1236;31|33 Het;-AAATT 1107;25|29 Hom;-AAATT 2360;0|55 N N - 3 57317586 57317586 C T snp intronic ASB14 Asb14 ENSG00000239388 ankyrin repeat and SOCS box containing 14 chr3:57302375-57326710 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB14 http://www.informatics.jax.org/searchtool/Search.do?query=ASB14&submit=Quick%0D%19564ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB14 rs11130579 0.464856 0 0 1 0 0 intronic intronic intronic ASB14 ASB14 ENSG00000239388 Na Na Na Na Na Na Het;C>T 308;5|12 Het;C>T 162;7|7 Hom;C>T 280;0|9 N N - 3 57321916 57321916 T G snp intronic ASB14 Asb14 ENSG00000239388 ankyrin repeat and SOCS box containing 14 chr3:57302375-57326710 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB14 http://www.informatics.jax.org/searchtool/Search.do?query=ASB14&submit=Quick%0D%19564ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB14 rs883244 0.735823 0.6406 0.6426 1 0 0 intronic intronic intronic ASB14 ASB14 ENSG00000239388 Na Na Na Na Na Na Het;T>G 455;12|15 Het;T>G 171;12|7 Hom;T>G 1285;0|43 N N - 3 57323170 57323170 A G snp intronic ASB14 Asb14 ENSG00000239388 ankyrin repeat and SOCS box containing 14 chr3:57302375-57326710 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB14 http://www.informatics.jax.org/searchtool/Search.do?query=ASB14&submit=Quick%0D%19564ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB14 rs528035 0.471246 0.3281 0.4327 1 0 0 intronic intronic intronic ASB14 ASB14 ENSG00000239388 Na Na Na Na Na Na Het;A>G 600;15|26 Het;A>G 360;15|18 Hom;A>G 1286;0|49 N N - 3 57335876 57335876 C T snp nonsynonymous SNV G8677A G2893S aliphatic,neutral polar,hydrophilic,neutral DNAH12 Dnah12 ENSG00000174844 dynein axonemal heavy chain 12 chr3:57327727-57530071 Stroke; Tobacco Use Disorder; Crohn Disease|Crohn's disease; Prostatic Neoplasms GO:0007018;microtubule-based movement;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH12 https://www.ncbi.nlm.nih.gov/omim/?term=603340 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH12&submit=Quick%0D%13588ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH12 rs4060726 0.665136 0.5769 0.6184 0.23 3 13 exonic exonic exonic DNAH12 DNAH12 ENSG00000174844 unknown nonsynonymous SNV unknown UNKNOWN DNAH12:uc003dit.2:exon55:c.G8677A:p.G2893S,DNAH12:uc010hnc.2:exon10:c.G1438A:p.G480S, UNKNOWN Het;C>T 1483;126|75 Het;C>T 1760;113|89 Hom;C>T 5066;0|191 N N - 3 5941986 5941986 C T snp intergenic MIR4790 rs7649928 0.101238 0 0 1 0 0 intergenic intergenic intergenic MIR4790(dist=650046),GRM7-AS3(dist=732059) Metazoa_SRP(dist=647078),AF279782(dist=590180) ENSG00000230944(dist=643540),ENSG00000229642(dist=62543) Na Na Na Na Na Na Het;C>T 222;13|12 Ref Hom;C>T 322;2|15 N N - 3 5942032 5942032 A C snp intergenic MIR4790 rs7617078 0.101238 0 0 1 0 0 intergenic intergenic intergenic MIR4790(dist=650092),GRM7-AS3(dist=732013) Metazoa_SRP(dist=647124),AF279782(dist=590134) ENSG00000230944(dist=643586),ENSG00000229642(dist=62497) Na Na Na Na Na Na Het;A>C 140;9|7 Ref Hom;A>C 281;1|13 N N - 3 60063219 60063219 A G snp intronic FHIT Fhit ENSG00000189283 fragile histidine triad chr3:59735036-61237133 This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] betel-associated oral carcinoma; Erythrocyte Count; Mental Competency; tumour kinetics and chromosomal instability; Fibrinogen; transcriptional inactivation of the FHIT gene; Myocardial Infarction; Schizophrenia; Depressive Disorder, Major; Hypertrophy, Left Ventricular; Celiac Disease|; Body Mass Index; Prostatic Neoplasms; colorectal cancer patients; Body Weights and Measures; Glomerular Filtration Rate; Creatinine; Coronary Artery Disease; Anticonvulsants; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Albumins; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Waist Circumference; Body Composition; ADHD | attention-deficit hyperactivity disorder; tumour progression and prognosis; Stroke; lung cancer; Respiratory Function Tests; Body Weight; Aorta; lung cancer ; Lymphatic Metastasis|thyroid neoplasm|Thyroid Neoplasms; Cleft Lip; Electrocardiography; Sleep; tumor progression and patient survival; Lipoproteins; smoking; major depressive disorder ; Heart Failure; Asperger Syndrome; Blood Pressure; Chagas Disease|Esophageal Neoplasms; cervical cancer; null; Alcoholism; lung cancer and preneoplastic bronchial lesions; Lipids; Cholesterol, LDL; prostate cancer; Cholesterol Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. GO:0006163;purine nucleotide metabolic process;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009117;nucleotide metabolic process;TAS|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0047710;bis(5'-adenosyl)-triphosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FHIT https://www.ncbi.nlm.nih.gov/omim/?term=601153 http://www.informatics.jax.org/searchtool/Search.do?query=FHIT&submit=Quick%0D%16215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHIT rs3845976 0.544129 0 0 1 0 0 intronic intronic intronic FHIT FHIT ENSG00000189283 Na Na Na Na Na Na Het;A>G 245;12|12 Het;A>G 388;17|20 Hom;A>G 985;0|34 N N - 3 60116747 60116763 CATATATACATATGTGT C indel intronic FHIT Fhit ENSG00000189283 fragile histidine triad chr3:59735036-61237133 This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] betel-associated oral carcinoma; Erythrocyte Count; Mental Competency; tumour kinetics and chromosomal instability; Fibrinogen; transcriptional inactivation of the FHIT gene; Myocardial Infarction; Schizophrenia; Depressive Disorder, Major; Hypertrophy, Left Ventricular; Celiac Disease|; Body Mass Index; Prostatic Neoplasms; colorectal cancer patients; Body Weights and Measures; Glomerular Filtration Rate; Creatinine; Coronary Artery Disease; Anticonvulsants; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Albumins; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Waist Circumference; Body Composition; ADHD | attention-deficit hyperactivity disorder; tumour progression and prognosis; Stroke; lung cancer; Respiratory Function Tests; Body Weight; Aorta; lung cancer ; Lymphatic Metastasis|thyroid neoplasm|Thyroid Neoplasms; Cleft Lip; Electrocardiography; Sleep; tumor progression and patient survival; Lipoproteins; smoking; major depressive disorder ; Heart Failure; Asperger Syndrome; Blood Pressure; Chagas Disease|Esophageal Neoplasms; cervical cancer; null; Alcoholism; lung cancer and preneoplastic bronchial lesions; Lipids; Cholesterol, LDL; prostate cancer; Cholesterol Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. GO:0006163;purine nucleotide metabolic process;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009117;nucleotide metabolic process;TAS|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0047710;bis(5'-adenosyl)-triphosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FHIT https://www.ncbi.nlm.nih.gov/omim/?term=601153 http://www.informatics.jax.org/searchtool/Search.do?query=FHIT&submit=Quick%0D%16215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHIT Na 0 0 0 1 0 0 intronic intronic intronic FHIT FHIT ENSG00000189283 Na Na Na Na Na Na Het;-ATATATACATATGTGT 338;1|9 Ref Hom;-ATATATACATATGTGT 413;0|10 N N - 3 60116775 60116791 TATATACATACATACAC T indel intronic FHIT Fhit ENSG00000189283 fragile histidine triad chr3:59735036-61237133 This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] betel-associated oral carcinoma; Erythrocyte Count; Mental Competency; tumour kinetics and chromosomal instability; Fibrinogen; transcriptional inactivation of the FHIT gene; Myocardial Infarction; Schizophrenia; Depressive Disorder, Major; Hypertrophy, Left Ventricular; Celiac Disease|; Body Mass Index; Prostatic Neoplasms; colorectal cancer patients; Body Weights and Measures; Glomerular Filtration Rate; Creatinine; Coronary Artery Disease; Anticonvulsants; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Albumins; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Waist Circumference; Body Composition; ADHD | attention-deficit hyperactivity disorder; tumour progression and prognosis; Stroke; lung cancer; Respiratory Function Tests; Body Weight; Aorta; lung cancer ; Lymphatic Metastasis|thyroid neoplasm|Thyroid Neoplasms; Cleft Lip; Electrocardiography; Sleep; tumor progression and patient survival; Lipoproteins; smoking; major depressive disorder ; Heart Failure; Asperger Syndrome; Blood Pressure; Chagas Disease|Esophageal Neoplasms; cervical cancer; null; Alcoholism; lung cancer and preneoplastic bronchial lesions; Lipids; Cholesterol, LDL; prostate cancer; Cholesterol Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. GO:0006163;purine nucleotide metabolic process;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009117;nucleotide metabolic process;TAS|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0047710;bis(5'-adenosyl)-triphosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FHIT https://www.ncbi.nlm.nih.gov/omim/?term=601153 http://www.informatics.jax.org/searchtool/Search.do?query=FHIT&submit=Quick%0D%16215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHIT Na 0 0 0 1 0 0 intronic intronic intronic FHIT FHIT ENSG00000189283 Na Na Na Na Na Na Het;-ATATACATACATACAC 329;4|9 Ref Hom;-ATATACATACATACAC 593;0|14 N N - 3 60116795 60116809 TATGTATGTATACAC T indel intronic FHIT Fhit ENSG00000189283 fragile histidine triad chr3:59735036-61237133 This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] betel-associated oral carcinoma; Erythrocyte Count; Mental Competency; tumour kinetics and chromosomal instability; Fibrinogen; transcriptional inactivation of the FHIT gene; Myocardial Infarction; Schizophrenia; Depressive Disorder, Major; Hypertrophy, Left Ventricular; Celiac Disease|; Body Mass Index; Prostatic Neoplasms; colorectal cancer patients; Body Weights and Measures; Glomerular Filtration Rate; Creatinine; Coronary Artery Disease; Anticonvulsants; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Albumins; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Waist Circumference; Body Composition; ADHD | attention-deficit hyperactivity disorder; tumour progression and prognosis; Stroke; lung cancer; Respiratory Function Tests; Body Weight; Aorta; lung cancer ; Lymphatic Metastasis|thyroid neoplasm|Thyroid Neoplasms; Cleft Lip; Electrocardiography; Sleep; tumor progression and patient survival; Lipoproteins; smoking; major depressive disorder ; Heart Failure; Asperger Syndrome; Blood Pressure; Chagas Disease|Esophageal Neoplasms; cervical cancer; null; Alcoholism; lung cancer and preneoplastic bronchial lesions; Lipids; Cholesterol, LDL; prostate cancer; Cholesterol Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. GO:0006163;purine nucleotide metabolic process;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009117;nucleotide metabolic process;TAS|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0047710;bis(5'-adenosyl)-triphosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FHIT https://www.ncbi.nlm.nih.gov/omim/?term=601153 http://www.informatics.jax.org/searchtool/Search.do?query=FHIT&submit=Quick%0D%16215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHIT rs751130152 0 0 0 1 0 0 intronic intronic intronic FHIT FHIT ENSG00000189283 Na Na Na Na Na Na Het;-ATGTATGTATACAC 359;8|10 Ref Hom;-ATGTATGTATACAC 644;0|15 N N - 3 60216788 60216788 T C snp intronic FHIT Fhit ENSG00000189283 fragile histidine triad chr3:59735036-61237133 This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] betel-associated oral carcinoma; Erythrocyte Count; Mental Competency; tumour kinetics and chromosomal instability; Fibrinogen; transcriptional inactivation of the FHIT gene; Myocardial Infarction; Schizophrenia; Depressive Disorder, Major; Hypertrophy, Left Ventricular; Celiac Disease|; Body Mass Index; Prostatic Neoplasms; colorectal cancer patients; Body Weights and Measures; Glomerular Filtration Rate; Creatinine; Coronary Artery Disease; Anticonvulsants; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder; Albumins; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Waist Circumference; Body Composition; ADHD | attention-deficit hyperactivity disorder; tumour progression and prognosis; Stroke; lung cancer; Respiratory Function Tests; Body Weight; Aorta; lung cancer ; Lymphatic Metastasis|thyroid neoplasm|Thyroid Neoplasms; Cleft Lip; Electrocardiography; Sleep; tumor progression and patient survival; Lipoproteins; smoking; major depressive disorder ; Heart Failure; Asperger Syndrome; Blood Pressure; Chagas Disease|Esophageal Neoplasms; cervical cancer; null; Alcoholism; lung cancer and preneoplastic bronchial lesions; Lipids; Cholesterol, LDL; prostate cancer; Cholesterol Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. GO:0006163;purine nucleotide metabolic process;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009117;nucleotide metabolic process;TAS|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IDA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0047710;bis(5'-adenosyl)-triphosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FHIT https://www.ncbi.nlm.nih.gov/omim/?term=601153 http://www.informatics.jax.org/searchtool/Search.do?query=FHIT&submit=Quick%0D%16215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FHIT rs17062553 0.130391 0 0 1 0 0 intronic intronic intronic FHIT FHIT ENSG00000189283 Na Na Na Na Na Na Het;T>C 83;3|4 Het;T>C 134;2|7 Hom;T>C 103;0|4 N N - 3 6041560 6041560 A G snp ncRNA_intronic AC087857.1 rs28489958 0.146565 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR4790(dist=749620),GRM7-AS3(dist=632485) Metazoa_SRP(dist=746652),AF279782(dist=490606) ENSG00000229642 Na Na Na Na Na Na Het;A>G 173;12|6 Het;A>G 48;10|3 Hom;A>G 487;0|18 N N - 3 6291977 6291977 T G snp ncRNA_intronic AC026167.1 rs74796984 0.0748802 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR4790(dist=1000037),GRM7-AS3(dist=382068) Metazoa_SRP(dist=997069),AF279782(dist=240189) ENSG00000226022 Na Na Na Na Na Na Het;T>G 623;35|27 Het;T>G 976;39|47 Hom;T>G 3041;2|113 N N - 3 66432276 66432276 A G snp intronic LRIG1 Lrig1 ENSG00000282243 leucine rich repeats and immunoglobulin like domains 1 chr3:66429221-66551687 Tobacco Use Disorder; Triglycerides; Coronary Artery Disease; Heart Function Tests Homozygous null mice developed psoriasiform epidermal hyperplasia. Homozygotes exhibit hair follicle, epidermis, vertebral, eye and hearing abnormalities, decreased body size and fat amount, and increased susceptibility to bacterial infection. Negative regulation of MET activity GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRIG1 https://www.uniprot.org/uniprot/Q96JA1 https://www.ncbi.nlm.nih.gov/omim/?term=608868 http://www.informatics.jax.org/searchtool/Search.do?query=LRIG1&submit=Quick%0D%22450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRIG1 rs2242284 0.694089 0 0 1 0 0 intronic intronic intronic LRIG1 LRIG1 ENSG00000144741,ENSG00000144749 Na Na Na Na Na Na Het;A>G 67;3|3 Ref Hom;A>G 128;0|4 N N - 3 6846974 6846974 T C snp ncRNA_intronic GRM7-AS3 rs56873560 0.445687 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic GRM7-AS3 AF279782(dist=68553),GRM7(dist=55828) ENSG00000226258 Na Na Na Na Na Na Het;T>C 167;2|6 Ref Hom;T>C 355;0|9 N N - 3 73214943 73214943 A AT indel intergenic PPP4R2 Ppp4r2 ENSG00000163605 protein phosphatase 4 regulatory subunit 2 chr3:73045936-73118350 The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Processing of DNA double-strand break ends GO:0006397;mRNA processing;IEA|GO:0006464;cellular protein modification process;TAS|GO:0008380;RNA splicing;IEA|GO:0010569;regulation of double-strand break repair via homologous recombination;IMP|GO:0050790;regulation of catalytic activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0030289;protein phosphatase 4 complex;IDA GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;IMP|GO:0030674;protein binding, bridging;IMP http://www.genecards.org/index.php?path=/Search/keyword/PPP4R2 https://www.ncbi.nlm.nih.gov/omim/?term=613822 http://www.informatics.jax.org/searchtool/Search.do?query=PPP4R2&submit=Quick%0D%11023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP4R2 rs34941702 0.809305 0 0 1 0 0 intergenic intergenic intergenic PPP4R2(dist=99932),PDZRN3(dist=216638) PPP4R2(dist=99932),PDZRN3(dist=216639) ENSG00000223247(dist=54610),ENSG00000182921(dist=16709) Na Na Na Na Na Na Het;+T 1159;26|63 Ref Hom;+T 1204;9|64 N N - 3 75741068 75741068 T C snp intergenic LINC00960 rs3009097 0 0 0 1 0 0 intergenic intergenic intergenic LINC00960(dist=12614),ZNF717(dist=38044) LOC401074(dist=12614),NONE(dist=NONE) ENSG00000242516(dist=12614),NONE(dist=NONE) Na Na Na Na Na Na Het;T>C 42;4|3 Ref Hom;T>C 111;0|4 N N - 3 75741169 75741169 C G snp intergenic LINC00960 rs113275423 0 0 0 1 0 0 intergenic intergenic intergenic LINC00960(dist=12715),ZNF717(dist=37943) LOC401074(dist=12715),NONE(dist=NONE) ENSG00000242516(dist=12715),NONE(dist=NONE) Na Na Na Na Na Na Het;C>G 246;7|8 Het;C>G 95;15|4 Hom;C>G 152;0|4 N N - 3 78663949 78663949 G A snp synonymous SNV C4149T G1383G aliphatic,neutral aliphatic,neutral ROBO1 Robo1 ENSG00000169855 roundabout guidance receptor 1 chr3:78646390-79816965 Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] protein quantitative trait loci; Brain imaging in schizophrenia (interaction); Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Myocardial Infarction; Tobacco Use Disorder; obesity|asthma; Macular Degeneration; Obesity Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. Role of Abl in Robo-Slit signaling GO:0002042;cell migration involved in sprouting angiogenesis;IMP|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;TAS|GO:0007507;heart development;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0021836;chemorepulsion involved in postnatal olfactory bulb interneuron migration;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IMP|GO:0033600;negative regulation of mammary gland epithelial cell proliferation;IMP|GO:0035025;positive regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IMP|GO:0050772;positive regulation of axonogenesis;IDA|GO:0050925;negative regulation of negative chemotaxis;IDA|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0008046;axon guidance receptor activity;TAS|GO:0030275;LRR domain binding;IPI|GO:0042802;identical protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ROBO1 https://hpo.jax.org/app/browse/search?q=ROBO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602430 http://www.informatics.jax.org/searchtool/Search.do?query=ROBO1&submit=Quick%0D%12576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO1 rs4443127 0.0289537 0.0346 0.0469 1 0 0 exonic exonic exonic ROBO1 ROBO1 ENSG00000169855 synonymous SNV synonymous SNV unknown ROBO1:NM_133631:exon26:c.C4149T:p.G1383G,ROBO1:NM_002941:exon28:c.C4284T:p.G1428G,ROBO1:NM_001145845:exon26:c.C3984T:p.G1328G, ROBO1:uc003dqe.2:exon28:c.C4284T:p.G1428G,ROBO1:uc011bgl.1:exon18:c.C3000T:p.G1000G,ROBO1:uc003dqc.2:exon26:c.C3984T:p.G1328G,ROBO1:uc003dqb.2:exon26:c.C4167T:p.G1389G,ROBO1:uc010hoh.2:exon20:c.C1860T:p.G620G,ROBO1:uc003dqd.2:exon26:c.C4149T:p.G1383G, UNKNOWN Het;G>A 674;33|22 Het;G>A 520;41|29 Hom;G>A 2327;0|56 N N - 3 78688958 78688958 G A snp synonymous SNV C2838T S946S polar,hydrophilic,neutral polar,hydrophilic,neutral ROBO1 Robo1 ENSG00000169855 roundabout guidance receptor 1 chr3:78646390-79816965 Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] protein quantitative trait loci; Brain imaging in schizophrenia (interaction); Marijuana Abuse|Psychoses, Substance-Induced; schizophrenia; Myocardial Infarction; Tobacco Use Disorder; obesity|asthma; Macular Degeneration; Obesity Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. Role of Abl in Robo-Slit signaling GO:0002042;cell migration involved in sprouting angiogenesis;IMP|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;TAS|GO:0007507;heart development;IEA|GO:0016199;axon midline choice point recognition;ISS|GO:0021836;chemorepulsion involved in postnatal olfactory bulb interneuron migration;IDA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IMP|GO:0033600;negative regulation of mammary gland epithelial cell proliferation;IMP|GO:0035025;positive regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IMP|GO:0050772;positive regulation of axonogenesis;IDA|GO:0050925;negative regulation of negative chemotaxis;IDA|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IMP GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0008046;axon guidance receptor activity;TAS|GO:0030275;LRR domain binding;IPI|GO:0042802;identical protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ROBO1 https://hpo.jax.org/app/browse/search?q=ROBO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602430 http://www.informatics.jax.org/searchtool/Search.do?query=ROBO1&submit=Quick%0D%12576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO1 rs35926083 0.0291534 0.0338 0.0441 1 0 0 exonic exonic exonic ROBO1 ROBO1 ENSG00000169855 synonymous SNV synonymous SNV unknown ROBO1:NM_133631:exon20:c.C2838T:p.S946S,ROBO1:NM_002941:exon22:c.C2973T:p.S991S,ROBO1:NM_001145845:exon20:c.C2838T:p.S946S, ROBO1:uc003dqe.2:exon22:c.C2973T:p.S991S,ROBO1:uc011bgl.1:exon12:c.C1689T:p.S563S,ROBO1:uc003dqc.2:exon20:c.C2838T:p.S946S,ROBO1:uc003dqb.2:exon20:c.C2856T:p.S952S,ROBO1:uc010hoh.2:exon14:c.C549T:p.S183S,ROBO1:uc003dqd.2:exon20:c.C2838T:p.S946S, UNKNOWN Het;G>A 1113;48|52 Het;G>A 508;54|31 Hom;G>A 1987;2|79 N N - 3 7931753 7931753 A G snp intergenic GRM7 Grm7 ENSG00000196277 glutamate metabotropic receptor 7 chr3:6811688-7783215 L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] schizophrenia; ADHD | attention-deficit hyperactivity disorder; Presbycusis; Panic Disorder; Cholesterol; Bipolar Disorder; Tobacco Use Disorder; Psychiatric Disorders; schizophrenia | autism; Depressive Disorder, Major; Creatinine; Type 2 Diabetes| edema | rosiglitazone; Basophils; Blood Pressure; depression; several psychiatric disorders; Arteries; Maximal Midexpiratory Flow Rate; Iron; Respiration Disorders; Alcoholism; major depressive disorder (broad); Factor VII; Echocardiography; Cleft Lip; Triglycerides; Schizophrenia; Erythrocyte Count; smoking cessation; Cholesterol, LDL; Body Weight; Weight Gain; Personality; delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced; Body Mass Index; panic disorder Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IDA|GO:0007268;chemical synaptic transmission;IDA|GO:0007605;sensory perception of sound;IMP|GO:0007608;sensory perception of smell;IEA|GO:0014050;negative regulation of glutamate secretion;ISS|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0031279;regulation of cyclase activity;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050896;response to stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005938;cell cortex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;IDA|GO:0032279;asymmetric synapse;ISS|GO:0042734;presynaptic membrane;IBA|GO:0043198;dendritic shaft;ISS|GO:0043235;receptor complex;IDA|GO:0045211;postsynaptic membrane;ISS|GO:0048786;presynaptic active zone;ISS GO:0001642;group III metabotropic glutamate receptor activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005246;calcium channel regulator activity;IBA|GO:0008066;glutamate receptor activity;IDA|GO:0010855;adenylate cyclase inhibitor activity;IDA|GO:0070905;serine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GRM7 https://www.ncbi.nlm.nih.gov/omim/?term=604101 http://www.informatics.jax.org/searchtool/Search.do?query=GRM7&submit=Quick%0D%16312ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM7 rs394079 0.698482 0 0 1 0 0 intergenic intergenic intergenic GRM7(dist=148535),LOC101927394(dist=62739) GRM7(dist=148535),AK124857(dist=62739) ENSG00000196277(dist=148538),ENSG00000227110(dist=62739) Na Na Na Na Na Na Het;A>G 119;1|4 Ref Hom;A>G 123;0|4 N N - 3 82660035 82660035 T C snp intergenic GBE1 Gbe1 ENSG00000114480 1,4-alpha-glucan branching enzyme 1 chr3:81538850-81811312 The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008] longevity; obesity|asthma; Type 2 Diabetes| edema | rosiglitazone; Triglycerides; metabolism disorders; Aspartate Aminotransferases; Tobacco Use Disorder; Body Mass Index Mice homozygous for an ENU-induced allele exhibit mid-to-late gestation lethality, decreased heart rate, glycogen storage defects, and ventricles that were small, hypertrabeculated, and noncompacted. Glycogen synthesis GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;TAS|GO:0005978;glycogen biosynthetic process;TAS|GO:0006091;generation of precursor metabolites and energy;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003844;1,4-alpha-glucan branching enzyme activity;TAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0043169;cation binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GBE1 https://www.uniprot.org/uniprot/Q04446 https://hpo.jax.org/app/browse/search?q=GBE1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607839 http://www.informatics.jax.org/searchtool/Search.do?query=GBE1&submit=Quick%0D%4470ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GBE1 rs834858 0.608427 0 0 1 0 0 intergenic intergenic intergenic GBE1(dist=849085),NONE(dist=NONE) BC031255(dist=147209),NONE(dist=NONE) ENSG00000239440(dist=147209),ENSG00000241095(dist=195631) Na Na Na Na Na Na Het;T>C 40;3|2 Het;T>C 221;7|7 Hom;T>C 743;0|21 N N - 3 84160845 84160846 GA G indel intergenic NONE rs397990387 0.799321 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),LINC00971(dist=526710) BC031255(dist=1648019),LOC440970(dist=526710) ENSG00000242195(dist=173458),ENSG00000221380(dist=178417) Na Na Na Na Na Na Het;-A 217;3|15 Het;-A 370;6|23 Hom;-A 484;3|27 N N - 3 8723634 8723634 G T snp UTR5 -48010C>A SSUH2 Ssu2 ENSG00000125046 ssu-2 homolog (C. elegans) chr3:8661086-8786726 Heart Rate Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. GO:0042476;odontogenesis;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/SSUH2 https://www.uniprot.org/uniprot/Q9Y2M2 https://www.ncbi.nlm.nih.gov/omim/?term=617479 http://www.informatics.jax.org/searchtool/Search.do?query=SSUH2&submit=Quick%0D%5736ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSUH2 rs2633864 0.288938 0 0 1 0 0 intergenic UTR5 UTR5 SSUH2(dist=29870),CAV3(dist=51852) SSUH2(uc003bqy.4:c.-48010C>A) ENSG00000125046(ENST00000317371:c.-48010C>A) Na Na Na Na Na Na Het;G>T 90;2|5 Ref Hom;G>T 31;0|3 N N - 3 97731434 97731434 C CA indel ncRNA_intronic GABRR3 Gabrr3 ENSG00000183185 gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene) chr3:97705517-97754148 The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012] Bipolar Disorder; Hemoglobin A, Glycosylated; several psychiatric disorders GABA A (rho) receptor activation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;NAS|GO:0007268;chemical synaptic transmission;NAS|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA GO:0004890;GABA-A receptor activity;NAS|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0019904;protein domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRR3 http://www.informatics.jax.org/searchtool/Search.do?query=GABRR3&submit=Quick%0D%14939ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRR3 rs11426005 0.518371 0 0.5025 1 0 0 intronic ncRNA_intronic intronic GABRR3 GABRR3 ENSG00000183185 Na Na Na Na Na Na Het;+A 345;7|15 Het;+A 187;24|11 Hom;+A 862;0|32 N N - 3 97783680 97783680 C T snp unknown OR5AC1 ENSG00000213439 chr3:97783316-97784240 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] http://www.genecards.org/index.php?path=/Search/keyword/OR5AC1 http://www.informatics.jax.org/searchtool/Search.do?query=OR5AC1&submit=Quick%0D%18128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5AC1 rs79380379 0.0597045 0 0.0464 1 0 0 intergenic intergenic exonic GABRR3(dist=29532),OR5AC2(dist=22337) GABRR3(dist=29532),OR5AC2(dist=22337) ENSG00000213439 Na Na unknown Na Na UNKNOWN Het;C>T 67;10|5 Ref Hom;C>T 354;0|13 N N - 4 100123776 100123776 C A snp ncRNA_intronic LOC100507053 rs2000864 0.647564 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100507053 LOC100507053 ENSG00000246090 Na Na Na Na Na Na Het;C>A 215;8|9 Het;C>A 374;10|15 Hom;C>A 731;0|25 N N - 4 100124716 100124716 C G snp ncRNA_intronic LOC100507053 rs1893883 0.717053 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100507053 LOC100507053 ENSG00000246090 Na Na Na Na Na Na Het;C>G 972;34|41 Het;C>G 1820;69|76 Hom;C>G 3996;0|141 N N - 4 100131163 100131163 G C snp ncRNA_intronic LOC100507053 rs6833176 0.717252 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100507053 LOC100507053 ENSG00000246090 Na Na Na Na Na Na Het;G>C 126;3|6 Het;G>C 223;5|8 Hom;G>C 485;0|13 N N - 4 100134713 100134713 A AT indel ncRNA_intronic LOC100507053 rs5860571 0.790735 0.6833 0.6649 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100507053 LOC100507053 ENSG00000246090 Na Na Na Na Na Na Het;+T 841;17|25 Het;+T 564;24|18 Hom;+T 1417;0|36 N N - 4 100137534 100137534 G C snp ncRNA_intronic LOC100507053 rs4699733 0.727037 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100507053 LOC100507053 ENSG00000246090 Na Na Na Na Na Na Het;G>C 530;16|16 Het;G>C 107;15|5 Hom;G>C 652;0|20 N N - 4 101696012 101696012 T G snp intergenic LINC01216 rs10026604 0.760583 0 0 1 0 0 intergenic intergenic intergenic LINC01216(dist=99742),PPP3CA(dist=248575) EMCN-IT3(dist=99742),PPP3CA(dist=248575) NONE(dist=NONE),ENSG00000251219(dist=3727) Na Na Na Na Na Na Het;T>G 491;14|19 Het;T>G 453;9|19 Hom;T>G 1176;0|43 N N - 4 102267453 102267453 G A snp intronic PPP3CA Ppp3ca ENSG00000138814 protein phosphatase 3 catalytic subunit alpha chr4:101944566-102269435 Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Keratoconus; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers. CLEC7A (Dectin-1) induces NFAT activation GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001975;response to amphetamine;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006606;protein import into nucleus;IEA|GO:0006816;calcium ion transport;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014883;transition between fast and slow fiber;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016311;dephosphorylation;TAS|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0033555;multicellular organismal response to stress;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0035690;cellular response to drug;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042110;T cell activation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0048741;skeletal muscle fiber development;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051533;positive regulation of NFAT protein import into nucleus;IDA|GO:0051592;response to calcium ion;IDA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:1903244;positive regulation of cardiac muscle hypertrophy in response to stress;IEA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IEA|GO:1905205;positive regulation of connective tissue replacement;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005955;calcineurin complex;NAS|GO:0016020;membrane;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0098794;postsynapse;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004723;calcium-dependent protein serine/threonine phosphatase activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0008144;drug binding;IDA|GO:0016018;cyclosporin A binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP3CA https://www.uniprot.org/uniprot/Q08209 https://hpo.jax.org/app/browse/search?q=PPP3CA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114105 http://www.informatics.jax.org/searchtool/Search.do?query=PPP3CA&submit=Quick%0D%7812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP3CA rs2583391 0.514976 0 0 1 0 0 intronic intronic intronic PPP3CA PPP3CA ENSG00000138814 Na Na Na Na Na Na Het;G>A 91;6|5 Ref Hom;G>A 148;0|6 N N - 4 102268034 102268034 A ACGCCGC indel UTR5 -81T>GCGGCGT PPP3CA Ppp3ca ENSG00000138814 protein phosphatase 3 catalytic subunit alpha chr4:101944566-102269435 Parkinson's disease ; Type 2 Diabetes| edema | rosiglitazone; Keratoconus; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers. CLEC7A (Dectin-1) induces NFAT activation GO:0000082;G1/S transition of mitotic cell cycle;IEA|GO:0001975;response to amphetamine;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006606;protein import into nucleus;IEA|GO:0006816;calcium ion transport;IEA|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0010613;positive regulation of cardiac muscle hypertrophy;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014883;transition between fast and slow fiber;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;IEA|GO:0016311;dephosphorylation;TAS|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0033555;multicellular organismal response to stress;IEA|GO:0035562;negative regulation of chromatin binding;IEA|GO:0035690;cellular response to drug;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042110;T cell activation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0048741;skeletal muscle fiber development;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051533;positive regulation of NFAT protein import into nucleus;IDA|GO:0051592;response to calcium ion;IDA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:1903244;positive regulation of cardiac muscle hypertrophy in response to stress;IEA|GO:1903799;negative regulation of production of miRNAs involved in gene silencing by miRNA;IEA|GO:1905205;positive regulation of connective tissue replacement;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005955;calcineurin complex;NAS|GO:0016020;membrane;IEA|GO:0030018;Z disc;IEA|GO:0042383;sarcolemma;IEA|GO:0098794;postsynapse;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004723;calcium-dependent protein serine/threonine phosphatase activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0008144;drug binding;IDA|GO:0016018;cyclosporin A binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP3CA https://www.uniprot.org/uniprot/Q08209 https://hpo.jax.org/app/browse/search?q=PPP3CA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114105 http://www.informatics.jax.org/searchtool/Search.do?query=PPP3CA&submit=Quick%0D%7812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP3CA rs3974660 0 0 0 1 0 0 UTR5 UTR5 UTR5 PPP3CA(NM_000944:c.-81T>GCGGCGT,NM_001130692:c.-81T>GCGGCGT,NM_001130691:c.-81T>GCGGCGT) PPP3CA(uc011cen.1:c.-81T>GCGGCGT,uc003hvu.2:c.-81T>GCGGCGT,uc010ilj.2:c.-81T>GCGGCGT,uc003hvt.2:c.-96529T>GCGGCGT,uc003hvs.2:c.-81T>GCGGCGT,uc010ilk.2:c.-81T>GCGGCGT) ENSG00000138814(ENST00000512215:c.-81T>GCGGCGT,ENST00000394854:c.-81T>GCGGCGT,ENST00000323055:c.-81T>GCGGCGT,ENST00000394853:c.-81T>GCGGCGT) Na Na Na Na Na Na Het;+CGCCGC 522;16|15 Het;+CGCCGC 320;4|9 Hom;+CGCCGC 1252;0|29 N N - 4 102268940 102268940 T C snp ncRNA_exonic FLJ20021 rs2850328 0.518171 0 0 1 0 0 ncRNA_exonic UTR5 UTR5 FLJ20021 FLJ20021(uc003hvw.3:c.-598T>C) ENSG00000254531(ENST00000527564:c.-598T>C) Na Na Na Na Na Na Het;T>C 957;32|38 Het;T>C 623;26|24 Hom;T>C 1452;0|46 N N - 4 102370183 102370183 C T snp intronic BANK1 Bank1 ENSG00000153064 B-cell scaffold protein with ankyrin repeats 1 chr4:102332443-102995969 The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] diffuse systemic sclerosis; Hemoglobins; systemic lupus erythematosus ; Tobacco Use Disorder; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|; Giant Cell Arteritis|Temporal Arteritis; Lupus Erythematosus, Systemic; Erythrocyte Count; Body Weights and Measures; Arthritis, Rheumatoid|; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Parkinson Disease; Scleroderma, Systemic; systemic lupus erythematosus; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diabetes, type 1 Mice homozygous for a knock-out allele exhibit increased germinal center formation and IgM production in response to T-dependent antigens, and show enhanced CD40-mediated B cell proliferative and survival responses. GO:0042113;B cell activation;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0045947;negative regulation of translational initiation;IEA|GO:0050869;negative regulation of B cell activation;IEA|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:1900165;negative regulation of interleukin-6 secretion;IEA http://www.genecards.org/index.php?path=/Search/keyword/BANK1 https://www.uniprot.org/uniprot/Q8NDB2 https://www.ncbi.nlm.nih.gov/omim/?term=610292 http://www.informatics.jax.org/searchtool/Search.do?query=BANK1&submit=Quick%0D%9623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BANK1 rs2013410 0.385583 0 0 1 0 0 intergenic intronic intronic FLJ20021(dist=100143),BANK1(dist=341581) BANK1 ENSG00000153064 Na Na Na Na Na Na Het;C>T 32;2|2 Het;C>T 84;4|5 Hom;C>T 158;0|7 N N - 4 103225513 103225513 T C snp synonymous SNV A801G G267G aliphatic,neutral aliphatic,neutral SLC39A8 Slc39a8 ENSG00000138821 solute carrier family 39 member 8 chr4:103172198-103352415 This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] Chronic renal failure|Kidney Failure, Chronic; Cholesterol, HDL; Body Mass Index; Blood Pressure; Hypertension; prostate cancer; Pulse; Tissue Plasminogen Activator; Coronary Artery Disease Zinc influx into cells by the SLC39 gene family GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0030001;metal ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070574;cadmium ion transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IDA GO:0005385;zinc ion transmembrane transporter activity;TAS|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A8 https://www.uniprot.org/uniprot/Q9C0K1 https://hpo.jax.org/app/browse/search?q=SLC39A8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608732 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A8&submit=Quick%0D%7813ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A8 rs11097773 0.144968 0.1483 0.1754 1 0 0 exonic exonic exonic SLC39A8 SLC39A8 ENSG00000138821 synonymous SNV synonymous SNV unknown SLC39A8:NM_001135147:exon6:c.A801G:p.G267G,SLC39A8:NM_001135148:exon5:c.A600G:p.G200G,SLC39A8:NM_001135146:exon6:c.A801G:p.G267G,SLC39A8:NM_022154:exon5:c.A801G:p.G267G, SLC39A8:uc003hwa.1:exon5:c.A600G:p.G200G,SLC39A8:uc011ceo.1:exon6:c.A801G:p.G267G,SLC39A8:uc003hwc.2:exon6:c.A801G:p.G267G,SLC39A8:uc003hwb.1:exon5:c.A801G:p.G267G, UNKNOWN Het;T>C 1151;45|52 Het;T>C 1666;98|80 Hom;T>C 4842;1|178 N N - 4 103228734 103228734 C T snp synonymous SNV G411A T137T polar,hydrophilic,neutral polar,hydrophilic,neutral SLC39A8 Slc39a8 ENSG00000138821 solute carrier family 39 member 8 chr4:103172198-103352415 This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] Chronic renal failure|Kidney Failure, Chronic; Cholesterol, HDL; Body Mass Index; Blood Pressure; Hypertension; prostate cancer; Pulse; Tissue Plasminogen Activator; Coronary Artery Disease Zinc influx into cells by the SLC39 gene family GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IBA|GO:0030001;metal ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070574;cadmium ion transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IDA GO:0005385;zinc ion transmembrane transporter activity;TAS|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A8 https://www.uniprot.org/uniprot/Q9C0K1 https://hpo.jax.org/app/browse/search?q=SLC39A8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608732 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A8&submit=Quick%0D%7813ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A8 rs35411892 0.163938 0.1693 0.1813 1 0 0 exonic exonic exonic SLC39A8 SLC39A8 ENSG00000138821 synonymous SNV synonymous SNV unknown SLC39A8:NM_001135147:exon4:c.G411A:p.T137T,SLC39A8:NM_001135148:exon3:c.G210A:p.T70T,SLC39A8:NM_001135146:exon4:c.G411A:p.T137T,SLC39A8:NM_022154:exon3:c.G411A:p.T137T, SLC39A8:uc003hwa.1:exon3:c.G210A:p.T70T,SLC39A8:uc011ceo.1:exon4:c.G411A:p.T137T,SLC39A8:uc003hwc.2:exon4:c.G411A:p.T137T,SLC39A8:uc003hwb.1:exon3:c.G411A:p.T137T, UNKNOWN Het;C>T 548;70|31 Het;C>T 983;71|49 Hom;C>T 3060;0|110 N N - 4 103765156 103765156 A G snp ncRNA_exonic AK093356 rs223366 0.477835 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic UBE2D3 AK093356 ENSG00000246560 Na Na Na Na Na Na Het;A>G 2005;97|89 Het;A>G 1112;77|51 Hom;A>G 3413;1|119 N N - 4 104063071 104063071 C T snp intronic CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs2711898 0.449681 0.4567 0.4066 1 0 0 intronic intronic intronic CENPE CENPE ENSG00000138778 Na Na Na Na Na Na Het;C>T 1851;67|85 Het;C>T 1228;70|61 Hom;C>T 3364;2|127 N N - 4 104066049 104066049 C T snp intronic CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs1031804 0.451078 0 0 1 0 0 intronic intronic intronic CENPE CENPE ENSG00000138778 Na Na Na Na Na Na Het;C>T 257;2|8 Het;C>T 75;1|3 Hom;C>T 158;0|5 N N - 4 104066890 104066890 T A snp intronic CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs2169508 0.415335 0.4200 0.4029 1 0 0 intronic intronic intronic CENPE CENPE ENSG00000138778 Na Na Na Na Na Na Het;T>A 592;36|25 Het;T>A 815;33|33 Hom;T>A 1709;2|59 N N - 4 104079424 104079424 C T snp intronic CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs2251322 0.45008 0.4554 0.4072 1 0 0 intronic intronic intronic CENPE CENPE ENSG00000138778 Na Na Na Na Na Na Het;C>T 241;14|10 Het;C>T 394;33|19 Hom;C>T 1325;0|47 N N - 4 104082349 104082349 C T snp synonymous SNV G2025A Q675Q polar,hydrophilic,neutral polar,hydrophilic,neutral CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs2251634 0.45008 0.4585 0.4063 1 0 0 exonic exonic exonic CENPE CENPE ENSG00000138778 synonymous SNV synonymous SNV unknown CENPE:NM_001813:exon20:c.G2025A:p.Q675Q,CENPE:NM_001286734:exon19:c.G1950A:p.Q650Q, CENPE:uc003hxc.1:exon19:c.G1950A:p.Q650Q,CENPE:uc003hxb.1:exon20:c.G2025A:p.Q675Q, UNKNOWN Het;C>T 1091;47|52 Het;C>T 1620;75|73 Hom;C>T 4488;0|169 N N - 4 104084765 104084766 CA C indel intronic CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs11315612 0 0 0 1 0 0 intronic intronic intronic CENPE CENPE ENSG00000138778 Na Na Na Na Na Na Het;-A 215;3|13 Ref Hom;-A 230;0|13 N N - 4 104104186 104104186 T TACTA indel intronic CENPE Cenpe ENSG00000138778 centromere protein E chr4:104026963-104119566 Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] Testicular Neoplasms; Alcoholism; Inflammation; Stroke; breast cancer Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. Kinesins GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007079;mitotic chromosome movement towards spindle pole;TAS|GO:0007080;mitotic metaphase plate congression;TAS|GO:0007275;multicellular organism development;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IMP|GO:0045860;positive regulation of protein kinase activity;IMP|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051382;kinetochore assembly;NAS|GO:0099607;lateral attachment of mitotic spindle microtubules to kinetochore;IMP GO:0000775;chromosome, centromeric region;IDA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000940;condensed chromosome outer kinetochore;TAS|GO:0005623;cell;IEA|GO:0005634;nucleus;IMP|GO:0005694;chromosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0016887;ATPase activity;IBA|GO:0043515;kinetochore binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CENPE https://www.uniprot.org/uniprot/Q02224 https://hpo.jax.org/app/browse/search?q=CENPE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=117143 http://www.informatics.jax.org/searchtool/Search.do?query=CENPE&submit=Quick%0D%7801ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPE rs3835129 0.45008 0 0 1 0 0 intronic intronic intronic CENPE CENPE ENSG00000138778 Na Na Na Na Na Na Het;+ACTA 77;4|3 Het;+ACTA 122;3|4 Hom;+ACTA 405;0|9 N N - 4 106124585 106124585 C G snp ncRNA_intronic TET2-AS1 rs6533182 0.660743 0 0 1 0 0 ncRNA_intronic intronic intronic TET2-AS1 TET2 ENSG00000168769 Na Na Na Na Na Na Het;C>G 140;7|9 Ref Hom;C>G 185;0|6 N N - 4 106154990 106154998 TATAGATAG T indel ncRNA_intronic TET2-AS1 rs58201766 0 0 0 1 0 0 ncRNA_intronic intronic intronic TET2-AS1 TET2 ENSG00000168769 Na Na Na Na Na Na Het;-ATAGATAG 68;4|3 Het;-ATAGATAG 239;6|7 Hom;-ATAGATAG 143;0|4 N N - 4 106196092 106196092 C T snp ncRNA_intronic TET2-AS1 rs2647243 0.830471 0 0 1 0 0 ncRNA_intronic intronic intronic TET2-AS1 TET2 ENSG00000168769 Na Na Na Na Na Na Het;C>T 300;5|10 Het;C>T 57;8|3 Hom;C>T 501;0|15 N N - 4 106196951 106196951 A G snp nonsynonymous SNV A5284G I1762V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TET2 Tet2 ENSG00000168769 tet methylcytosine dioxygenase 2 chr4:106067032-106200973 The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myeloproliferative Disorders; Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; Leukemia, Myelomonocytic, Chronic; Electrocardiography; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; prostate cancer; Leukemia, Myelomonocytic, Chronic|Myelodysplastic Syndromes|Preleukemia; Myeloproliferative Disorders; Mastocytosis, Systemic; Myelodysplastic Syndromes; Leukemia, Myeloid, Acute|Translocation, Genetic; leukemia; Blast Crisis|Blast Phase|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic; Alcoholism; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Myeloproliferative Disorders Mice homozygous for a gene trapped allele die shortly after birth and exhibit a loss of acidic granules in the proximal convoluted tubules of the kidneys. Mice homozygous for a conditional allele activated in hematopoeitic compartment exhibit self-renewal and myeloid transforamtion. TET1,2,3 and TDG demethylate DNA GO:0006211;5-methylcytosine catabolic process;IDA|GO:0006493;protein O-linked glycosylation;IDA|GO:0007049;cell cycle;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030099;myeloid cell differentiation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IDA|GO:0080182;histone H3-K4 trimethylation;IMP|GO:0006211;5-methylcytosine catabolic process;IDA|GO:0006493;protein O-linked glycosylation;IDA|GO:0007049;cell cycle;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030099;myeloid cell differentiation;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0080111;DNA demethylation;IDA|GO:0080182;histone H3-K4 trimethylation;IMP GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA|GO:0070579;methylcytosine dioxygenase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TET2 https://www.uniprot.org/uniprot/Q6N021 https://hpo.jax.org/app/browse/search?q=TET2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612839 http://www.informatics.jax.org/searchtool/Search.do?query=TET2&submit=Quick%0D%5ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TET2 rs2454206 0.230431 0.2873 0.2951 0.17 2 12 exonic exonic exonic TET2 TET2 ENSG00000168769 nonsynonymous SNV nonsynonymous SNV unknown TET2:NM_001127208:exon11:c.A5284G:p.I1762V, TET2:uc003hxk.3:exon11:c.A5284G:p.I1762V,TET2:uc011cez.2:exon11:c.A5347G:p.I1783V, UNKNOWN Het;A>G 2227;78|90 Het;A>G 1326;61|59 Hom;A>G 3360;2|120 N N - 4 106317370 106317370 T TATAAA indel intronic PPA2 Ppa2 ENSG00000138777 pyrophosphatase (inorganic) 2 chr4:106290234-106395238 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder Pyrophosphate hydrolysis GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPA2 https://www.uniprot.org/uniprot/Q9H2U2 https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609988 http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2 rs145622118 0.432708 0.3300 0.4363 1 0 0 intronic intronic intronic PPA2 PPA2 ENSG00000138777 Na Na Na Na Na Na Het;+ATAAA 209;16|7 Het;+ATAAA 442;22|13 Hom;+ATAAA 2306;0|49 N N - 4 106317429 106317429 C G snp nonsynonymous SNV G348C K116N polar,hydrophilic,charged(+) polar,hydrophilic,neutral PPA2 Ppa2 ENSG00000138777 pyrophosphatase (inorganic) 2 chr4:106290234-106395238 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder Pyrophosphate hydrolysis GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPA2 https://www.uniprot.org/uniprot/Q9H2U2 https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609988 http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2 rs13787 0.432708 0.3469 0.4544 0.38 5 13 exonic exonic exonic PPA2 PPA2 ENSG00000138777 nonsynonymous SNV nonsynonymous SNV unknown PPA2:NM_176869:exon9:c.G846C:p.K282N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_176867:exon3:c.G348C:p.K116N, PPA2:uc003hxp.3:exon3:c.G348C:p.K116N,PPA2:uc003hxn.3:exon8:c.G759C:p.K253N,PPA2:uc003hxq.3:exon10:c.G567C:p.K189N,PPA2:uc003hxl.3:exon9:c.G846C:p.K282N,PPA2:uc003hxo.3:exon5:c.G540C:p.K180N, UNKNOWN Het;C>G 456;41|23 Het;C>G 611;50|32 Hom;C>G 3418;2|129 N N - 4 106317498 106317502 CCAAA C indel intronic PPA2 Ppa2 ENSG00000138777 pyrophosphatase (inorganic) 2 chr4:106290234-106395238 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder Pyrophosphate hydrolysis GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPA2 https://www.uniprot.org/uniprot/Q9H2U2 https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609988 http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2 rs34331553 0.429113 0.3405 0.4502 1 0 0 intronic intronic intronic PPA2 PPA2 ENSG00000138777 Na Na Na Na Na Na Het;-CAAA 981;28|27 Het;-CAAA 930;28|26 Hom;-CAAA 3744;2|88 N N - 4 106320399 106320399 G C snp intronic PPA2 Ppa2 ENSG00000138777 pyrophosphatase (inorganic) 2 chr4:106290234-106395238 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder Pyrophosphate hydrolysis GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPA2 https://www.uniprot.org/uniprot/Q9H2U2 https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609988 http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2 rs1490593 0.432508 0 0 1 0 0 intronic intronic intronic PPA2 PPA2 ENSG00000138777 Na Na Na Na Na Na Het;G>C 94;5|4 Het;G>C 164;6|7 Hom;G>C 528;0|17 N N - 4 106320446 106320446 G A snp intronic PPA2 Ppa2 ENSG00000138777 pyrophosphatase (inorganic) 2 chr4:106290234-106395238 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder Pyrophosphate hydrolysis GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPA2 https://www.uniprot.org/uniprot/Q9H2U2 https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609988 http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2 rs1490594 0.432508 0 0 1 0 0 intronic intronic intronic PPA2 PPA2 ENSG00000138777 Na Na Na Na Na Na Het;G>A 101;3|4 Het;G>A 70;3|3 Hom;G>A 388;0|11 N N - 4 106359209 106359209 T A snp intronic PPA2 Ppa2 ENSG00000138777 pyrophosphatase (inorganic) 2 chr4:106290234-106395238 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Alcoholism; Tobacco Use Disorder Pyrophosphate hydrolysis GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006796;phosphate-containing compound metabolic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0071344;diphosphate metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0004427;inorganic diphosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPA2 https://www.uniprot.org/uniprot/Q9H2U2 https://hpo.jax.org/app/browse/search?q=PPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609988 http://www.informatics.jax.org/searchtool/Search.do?query=PPA2&submit=Quick%0D%7800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPA2 rs2713862 0.445088 0.1964 0.4509 1 0 0 intronic intronic intronic PPA2 PPA2 ENSG00000138777 Na Na Na Na Na Na Het;T>A 548;41|32 Het;T>A 725;29|38 Hom;T>A 2004;1|84 N N - 4 107154273 107154273 T C snp intronic TBCK Tbck ENSG00000145348 TBC1 domain containing kinase chr4:106962756-107242652 This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Alcoholism GO:0006468;protein phosphorylation;IEA|GO:0006886;intracellular protein transport;IBA|GO:0008283;cell proliferation;IMP|GO:0016049;cell growth;IMP|GO:0030036;actin cytoskeleton organization;IMP|GO:0031338;regulation of vesicle fusion;IBA|GO:0032006;regulation of TOR signaling;IMP|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0030496;midbody;IDA|GO:0072686;mitotic spindle;IDA GO:0004672;protein kinase activity;NAS|GO:0005096;GTPase activator activity;IBA|GO:0005524;ATP binding;NAS|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBCK https://www.uniprot.org/uniprot/Q8TEA7 https://hpo.jax.org/app/browse/search?q=TBCK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616899 http://www.informatics.jax.org/searchtool/Search.do?query=TBCK&submit=Quick%0D%8726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCK rs13138528 0.552716 0.5951 0.6049 1 0 0 intronic intronic intronic TBCK TBCK ENSG00000145348 Na Na Na Na Na Na Het;T>C 338;10|12 Het;T>C 327;10|11 Hom;T>C 820;0|28 N N - 4 107156365 107156365 C G snp intronic TBCK Tbck ENSG00000145348 TBC1 domain containing kinase chr4:106962756-107242652 This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Alcoholism GO:0006468;protein phosphorylation;IEA|GO:0006886;intracellular protein transport;IBA|GO:0008283;cell proliferation;IMP|GO:0016049;cell growth;IMP|GO:0030036;actin cytoskeleton organization;IMP|GO:0031338;regulation of vesicle fusion;IBA|GO:0032006;regulation of TOR signaling;IMP|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA|GO:0030496;midbody;IDA|GO:0072686;mitotic spindle;IDA GO:0004672;protein kinase activity;NAS|GO:0005096;GTPase activator activity;IBA|GO:0005524;ATP binding;NAS|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBCK https://www.uniprot.org/uniprot/Q8TEA7 https://hpo.jax.org/app/browse/search?q=TBCK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616899 http://www.informatics.jax.org/searchtool/Search.do?query=TBCK&submit=Quick%0D%8726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBCK rs7668276 0.549121 0 0 1 0 0 intronic intronic intronic TBCK TBCK ENSG00000145348 Na Na Na Na Na Na Het;C>G 403;10|16 Het;C>G 546;5|17 Hom;C>G 900;0|26 N N - 4 1078124 1078124 G A snp intronic RNF212 Rnf212 ENSG00000178222 ring finger protein 212 chr4:1050038-1107350 This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] null; recombination rate (females); recombination rate (males); Recombination, Genetic Mice homozygous for a knock-out allele exhibit abnormal male meiosis. GO:0006311;meiotic gene conversion;ISS|GO:0007129;synapsis;IBA|GO:0007131;reciprocal meiotic recombination;ISS|GO:0016925;protein sumoylation;IEA|GO:0051026;chiasma assembly;ISS|GO:0051321;meiotic cell cycle;IEA GO:0000795;synaptonemal complex;IBA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0019789;SUMO transferase activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF212 https://www.ncbi.nlm.nih.gov/omim/?term=612041 http://www.informatics.jax.org/searchtool/Search.do?query=RNF212&submit=Quick%0D%14155ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF212 rs13147452 0.323283 0 0 1 0 0 intronic intronic intronic RNF212 RNF212 ENSG00000178222 Na Na Na Na Na Na Het;G>A 121;2|6 Ref Hom;G>A 120;0|6 N N - 4 108356216 108356216 T C snp upstream RNU6-551P rs1002932 0.735224 0 0 1 0 0 intergenic intergenic upstream DKK2(dist=398763),PAPSS1(dist=178606) NONE(dist=NONE),PAPSS1(dist=178606) ENSG00000252470 Na Na Na Na Na Na Het;T>C 756;45|39 Het;T>C 1145;80|59 Hom;T>C 4247;2|163 N N - 4 108397888 108397888 C T snp intergenic DKK2 Dkk2 ENSG00000155011 dickkopf WNT signaling pathway inhibitor 2 chr4:107842959-108204963 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] Carcinoma, Renal Cell|Kidney Neoplasms; Vital Capacity; Respiratory Function Tests; Blood Coagulation Factors; Hip; Tobacco Use Disorder; Alcoholism; Insulin; Atrial Natriuretic Factor; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density mice homozygous for a targeted disruption are osteopenic with defective mineralization of induced osteoblasts in culture. Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;NAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA GO:0039706;co-receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DKK2 https://www.uniprot.org/uniprot/Q9UBU2 https://www.ncbi.nlm.nih.gov/omim/?term=605415 http://www.informatics.jax.org/searchtool/Search.do?query=DKK2&submit=Quick%0D%9830ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKK2 rs12498686 0.714657 0 0 1 0 0 intergenic intergenic intergenic DKK2(dist=440435),PAPSS1(dist=136934) NONE(dist=NONE),PAPSS1(dist=136934) ENSG00000252470(dist=41511),NONE(dist=NONE) Na Na Na Na Na Na Het;C>T 185;7|10 Het;C>T 78;5|4 Hom;C>T 360;0|15 N N - 4 108404696 108404696 G GA indel intergenic DKK2 Dkk2 ENSG00000155011 dickkopf WNT signaling pathway inhibitor 2 chr4:107842959-108204963 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] Carcinoma, Renal Cell|Kidney Neoplasms; Vital Capacity; Respiratory Function Tests; Blood Coagulation Factors; Hip; Tobacco Use Disorder; Alcoholism; Insulin; Atrial Natriuretic Factor; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density mice homozygous for a targeted disruption are osteopenic with defective mineralization of induced osteoblasts in culture. Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;NAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA GO:0039706;co-receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DKK2 https://www.uniprot.org/uniprot/Q9UBU2 https://www.ncbi.nlm.nih.gov/omim/?term=605415 http://www.informatics.jax.org/searchtool/Search.do?query=DKK2&submit=Quick%0D%9830ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKK2 rs397757383 0.717252 0 0 1 0 0 intergenic intergenic intergenic DKK2(dist=447243),PAPSS1(dist=130126) NONE(dist=NONE),PAPSS1(dist=130126) ENSG00000252470(dist=48319),NONE(dist=NONE) Na Na Na Na Na Na Het;+A 117;13|7 Het;+A 137;7|7 Hom;+A 573;0|20 N N - 4 109338854 109338854 G A snp downstream EXOC7P1 rs536689438 0.00459265 0 0 1 0 0 intergenic intergenic downstream LEF1-AS1(dist=241268),RPL34-AS1(dist=120492) LEF1-AS1(dist=241268),RPL34-AS1(dist=120492) ENSG00000250485 Na Na Na Na Na Na Het;G>A 39;2|2 Ref Hom;G>A 150;0|6 N N - 4 110351219 110351220 CA C indel ncRNA_exonic SEC24B-AS1 rs55721905 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SEC24B-AS1 SEC24B-AS1 ENSG00000247950 Na Na Na Na Na Na Het;-A 70;8|7 Het;-A 116;4|13 Hom;-A 229;2|14 N N - 4 111412391 111412392 GT G indel intronic ENPEP Enpep ENSG00000138792 glutamyl aminopeptidase chr4:111286889-111486441 Glomerulosclerosis, Focal Segmental; Alcoholism; Albumins; Cholesterol; Atrial fibrillation/atrial flutter; Tobacco Use Disorder Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. Metabolism of Angiotensinogen to Angiotensins GO:0001525;angiogenesis;IEA|GO:0002003;angiotensin maturation;TAS|GO:0002005;angiotensin catabolic process in blood;NAS|GO:0003081;regulation of systemic arterial blood pressure by renin-angiotensin;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;NAS|GO:0008283;cell proliferation;NAS|GO:0016477;cell migration;IDA|GO:0032835;glomerulus development;IEA|GO:0043171;peptide catabolic process;IBA GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ENPEP https://www.uniprot.org/uniprot/Q07075 https://www.ncbi.nlm.nih.gov/omim/?term=138297 http://www.informatics.jax.org/searchtool/Search.do?query=ENPEP&submit=Quick%0D%7804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPEP rs34911204 0.510783 0 0 1 0 0 intronic intronic intronic ENPEP ENPEP ENSG00000138792 Na Na Na Na Na Na Het;-T 61;9|7 Ref Hom;-T 172;1|11 N N - 4 111510631 111510631 G C snp intergenic ENPEP Enpep ENSG00000138792 glutamyl aminopeptidase chr4:111286889-111486441 Glomerulosclerosis, Focal Segmental; Alcoholism; Albumins; Cholesterol; Atrial fibrillation/atrial flutter; Tobacco Use Disorder Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. Metabolism of Angiotensinogen to Angiotensins GO:0001525;angiogenesis;IEA|GO:0002003;angiotensin maturation;TAS|GO:0002005;angiotensin catabolic process in blood;NAS|GO:0003081;regulation of systemic arterial blood pressure by renin-angiotensin;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;NAS|GO:0008283;cell proliferation;NAS|GO:0016477;cell migration;IDA|GO:0032835;glomerulus development;IEA|GO:0043171;peptide catabolic process;IBA GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ENPEP https://www.uniprot.org/uniprot/Q07075 https://www.ncbi.nlm.nih.gov/omim/?term=138297 http://www.informatics.jax.org/searchtool/Search.do?query=ENPEP&submit=Quick%0D%7804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPEP rs1448811 0.219649 0 0 1 0 0 intergenic intergenic intergenic ENPEP(dist=26138),PITX2(dist=27949) ENPEP(dist=26138),PITX2(dist=27949) ENSG00000138792(dist=24190),ENSG00000250103(dist=6040) Na Na Na Na Na Na Het;G>C 347;10|14 Het;G>C 151;7|7 Hom;G>C 414;0|13 N N - 4 111558411 111558411 G C snp UTR5 -4257C>G PITX2 Pitx2 ENSG00000164093 paired like homeodomain 2 chr4:111538579-111563279 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] idiopathic atrial fibrillation; Atrial fibrillation/atrial flutter; atrial fibrillation; Atrial Fibrillation; Atrial Fibrillation|Recurrence; Peters' anomaly; Atrial fibrillation ; Alcoholism; glaucoma, early-onset; Type 2 Diabetes| edema | rosiglitazone; Myocardial Infarction; Rieger syndrome; Eye Abnormalities; Atrial fibrillation; Parkinson Disease; Creatinine; Phosphorus; Alcohol Drinking; Cleft Lip|Cleft Palate; Stroke Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death. TFAP2 (AP-2) family regulates transcription of other transcription factors GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001764;neuron migration;IEA|GO:0002074;extraocular skeletal muscle development;IEA|GO:0003171;atrioventricular valve development;IEA|GO:0003253;cardiac neural crest cell migration involved in outflow tract morphogenesis;IEA|GO:0003350;pulmonary myocardium development;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007520;myoblast fusion;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0009653;anatomical structure morphogenesis;IEA|GO:0009725;response to hormone;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021763;subthalamic nucleus development;IEA|GO:0021855;hypothalamus cell migration;IEA|GO:0021983;pituitary gland development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0033189;response to vitamin A;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035315;hair cell differentiation;IC|GO:0035886;vascular smooth muscle cell differentiation;IEA|GO:0035993;deltoid tuberosity development;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042476;odontogenesis;IMP|GO:0043010;camera-type eye development;IMP|GO:0043388;positive regulation of DNA binding;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0048536;spleen development;IEA|GO:0048557;embryonic digestive tract morphogenesis;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0055009;atrial cardiac muscle tissue morphogenesis;IEA|GO:0055015;ventricular cardiac muscle cell development;IEA|GO:0055123;digestive system development;IEA|GO:0060126;somatotropin secreting cell differentiation;TAS|GO:0060127;prolactin secreting cell differentiation;TAS|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060460;left lung morphogenesis;IEA|GO:0060577;pulmonary vein morphogenesis;IEA|GO:0060578;superior vena cava morphogenesis;IEA|GO:0061031;endodermal digestive tract morphogenesis;IEA|GO:0061072;iris morphogenesis;IMP|GO:0061325;cell proliferation involved in outflow tract morphogenesis;IEA|GO:0070986;left/right axis specification;IEA|GO:2000288;positive regulation of myoblast proliferation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PITX2 https://hpo.jax.org/app/browse/search?q=PITX2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601542 http://www.informatics.jax.org/searchtool/Search.do?query=PITX2&submit=Quick%0D%11195ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PITX2 rs2739200 0.576478 0 0 1 0 0 UTR5 UTR5 UTR5 PITX2(NM_153426:c.-4257C>G,NM_001204397:c.-4257C>G,NM_153427:c.-4257C>G) PITX2(uc003iaf.3:c.-4257C>G,uc003iad.3:c.-4257C>G,uc003iae.3:c.-4257C>G) ENSG00000164093(ENST00000355080:c.-4257C>G,ENST00000354925:c.-4257C>G) Na Na Na Na Na Na Het;G>C 179;11|9 Ref Hom;G>C 812;0|32 N N - 4 115450050 115450050 C G snp intergenic ARSJ Arsj ENSG00000180801 arylsulfatase family member J chr4:114821440-114900883 Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] Alcoholism; Blood Pressure; Lipoproteins, VLDL; Urinalysis; Stroke The activation of arylsulfatases GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0043687;post-translational protein modification;TAS GO:0005576;extracellular region;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARSJ https://www.ncbi.nlm.nih.gov/omim/?term=610010 http://www.informatics.jax.org/searchtool/Search.do?query=ARSJ&submit=Quick%0D%14527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSJ rs1460779 0.522764 0 0 1 0 0 intergenic intergenic intergenic ARSJ(dist=549172),UGT8(dist=69561) ARSJ(dist=549172),UGT8(dist=69561) ENSG00000248716(dist=424669),ENSG00000174607(dist=69561) Na Na Na Na Na Na Het;C>G 306;31|18 Het;C>G 393;30|21 Hom;C>G 998;0|36 N N - 4 115543915 115543915 A AT indel UTR5 -122A>AT UGT8 Ugt8a ENSG00000174607 UDP glycosyltransferase 8 chr4:115519611-115599380 The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] Hearing Loss; drug-related genes ; Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Body Mass Index Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath. Glycosphingolipid metabolism GO:0002175;protein localization to paranode region of axon;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006682;galactosylceramide biosynthetic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007417;central nervous system development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008152;metabolic process;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0048812;neuron projection morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0008489;UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity;TAS|GO:0015020;glucuronosyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0047263;N-acylsphingosine galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/UGT8 https://www.ncbi.nlm.nih.gov/omim/?term=601291 http://www.informatics.jax.org/searchtool/Search.do?query=UGT8&submit=Quick%0D%13553ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT8 rs140050532 0.770966 0 0 1 0 0 UTR5 UTR5 UTR5 UGT8(NM_003360:c.-122A>AT) UGT8(uc003ibt.2:c.-122A>AT) ENSG00000174607(ENST00000394511:c.-122A>AT) Na Na Na Na Na Na Het;+T 68;1|5 Ref Hom;+T 155;0|7 N N - 4 115585029 115585029 C G snp intronic UGT8 Ugt8a ENSG00000174607 UDP glycosyltransferase 8 chr4:115519611-115599380 The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] Hearing Loss; drug-related genes ; Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Body Mass Index Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath. Glycosphingolipid metabolism GO:0002175;protein localization to paranode region of axon;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006682;galactosylceramide biosynthetic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0007010;cytoskeleton organization;IEA|GO:0007417;central nervous system development;TAS|GO:0007422;peripheral nervous system development;TAS|GO:0008152;metabolic process;IEA|GO:0030913;paranodal junction assembly;IEA|GO:0048812;neuron projection morphogenesis;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0008489;UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity;TAS|GO:0015020;glucuronosyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0047263;N-acylsphingosine galactosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/UGT8 https://www.ncbi.nlm.nih.gov/omim/?term=601291 http://www.informatics.jax.org/searchtool/Search.do?query=UGT8&submit=Quick%0D%13553ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT8 rs11731984 0.719249 0 0 1 0 0 intronic intronic intronic UGT8 UGT8 ENSG00000174607 Na Na Na Na Na Na Het;C>G 58;5|3 Het;C>G 46;6|3 Hom;C>G 473;0|14 N N - 4 116148122 116148122 T C snp intergenic NDST4 Ndst4 ENSG00000138653 N-deacetylase and N-sulfotransferase 4 chr4:115748919-116035032 Tobacco Use Disorder; Alcoholism Mice homozygous for a knock-out allele exhibit a phenotype restricted to the colonic epithelium that includes an increased number of colon goblet cells, a decreased number of colonocytes, and increased apoptosis of colonic epithelial cells in the proximal colon. HS-GAG biosynthesis GO:0008152;metabolic process;IEA|GO:0015012;heparan sulfate proteoglycan biosynthetic process;IEA|GO:0030210;heparin biosynthetic process;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003824;catalytic activity;IEA|GO:0008146;sulfotransferase activity;IEA|GO:0015016;[heparan sulfate]-glucosamine N-sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019213;deacetylase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDST4 https://www.uniprot.org/uniprot/Q9H3R1 https://www.ncbi.nlm.nih.gov/omim/?term=615039 http://www.informatics.jax.org/searchtool/Search.do?query=NDST4&submit=Quick%0D%7765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDST4 rs10020097 0.71845 0 0 1 0 0 intergenic intergenic intergenic NDST4(dist=113090),MIR1973(dist=1072759) NDST4(dist=113090),MIR1973(dist=1072759) ENSG00000251308(dist=83663),ENSG00000250693(dist=401846) Na Na Na Na Na Na Het;T>C 105;4|5 Het;T>C 153;2|8 Hom;T>C 189;0|6 N N - 4 116397282 116397282 C T snp intergenic NDST4 Ndst4 ENSG00000138653 N-deacetylase and N-sulfotransferase 4 chr4:115748919-116035032 Tobacco Use Disorder; Alcoholism Mice homozygous for a knock-out allele exhibit a phenotype restricted to the colonic epithelium that includes an increased number of colon goblet cells, a decreased number of colonocytes, and increased apoptosis of colonic epithelial cells in the proximal colon. HS-GAG biosynthesis GO:0008152;metabolic process;IEA|GO:0015012;heparan sulfate proteoglycan biosynthetic process;IEA|GO:0030210;heparin biosynthetic process;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003824;catalytic activity;IEA|GO:0008146;sulfotransferase activity;IEA|GO:0015016;[heparan sulfate]-glucosamine N-sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019213;deacetylase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDST4 https://www.uniprot.org/uniprot/Q9H3R1 https://www.ncbi.nlm.nih.gov/omim/?term=615039 http://www.informatics.jax.org/searchtool/Search.do?query=NDST4&submit=Quick%0D%7765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDST4 rs13147353 0.590855 0 0 1 0 0 intergenic intergenic intergenic NDST4(dist=362250),MIR1973(dist=823599) NDST4(dist=362250),MIR1973(dist=823599) ENSG00000251308(dist=332823),ENSG00000250693(dist=152686) Na Na Na Na Na Na Het;C>T 142;1|5 Het;C>T 85;3|5 Hom;C>T 160;0|5 N N - 4 117348174 117348174 G A snp ncRNA_exonic CUL4AP1 rs10017975 0.1252 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR1973(dist=127250),TRAM1L1(dist=656536) MIR1973(dist=127250),TRAM1L1(dist=656536) ENSG00000248139 Na Na Na Na Na Na Het;G>A 659;81|37 Het;G>A 1575;75|74 Hom;G>A 3613;0|136 N N - 4 117348230 117348230 A G snp ncRNA_exonic CUL4AP1 rs9995298 0.11881 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR1973(dist=127306),TRAM1L1(dist=656480) MIR1973(dist=127306),TRAM1L1(dist=656480) ENSG00000248139 Na Na Na Na Na Na Het;A>G 994;90|53 Het;A>G 2026;101|98 Hom;A>G 4642;0|178 N N - 4 117397682 117397682 G A snp intergenic MIR1973 rs4834548 0.0726837 0 0 1 0 0 intergenic intergenic intergenic MIR1973(dist=176758),TRAM1L1(dist=607028) MIR1973(dist=176758),TRAM1L1(dist=607028) ENSG00000248139(dist=45634),ENSG00000250791(dist=12838) Na Na Na Na Na Na Het;G>A 723;28|34 Het;G>A 893;22|40 Hom;G>A 1627;1|64 N N - 4 118710188 118710188 A G snp intergenic LINC01378 rs7687404 0.583866 0 0 1 0 0 intergenic intergenic intergenic LINC01378(dist=99930),NDST3(dist=245312) TRAM1L1(dist=703452),NDST3(dist=244585) ENSG00000236922(dist=97845),ENSG00000229565(dist=45368) Na Na Na Na Na Na Het;A>G 285;4|10 Het;A>G 405;16|17 Hom;A>G 783;0|26 N N - 4 1191423 1191424 AT A indel ncRNA_exonic LOC100130872 rs33953118 0.524361 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC100130872 LOC100130872 ENSG00000159674 Na Na Na Na Na Na Het;-T 1224;38|40 Het;-T 791;22|26 Hom;-T 2006;0|55 N N - 4 119273712 119273712 C G snp nonsynonymous SNV G164C R55T polar,hydrophilic,charged(+) polar,hydrophilic,neutral PRSS12 Prss12 ENSG00000164099 protease, serine 12 chr4:119201193-119274158 This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010] Stroke; Alcoholism; Lipids Mice homozygous for a targeted mutation display hypoactivity and increased anxiety. GO:0006508;proteolysis;IEA|GO:0006887;exocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0031638;zymogen activation;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043083;synaptic cleft;IEA|GO:0043195;terminal bouton;IEA|GO:0045202;synapse;IEA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005044;scavenger receptor activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRSS12 https://hpo.jax.org/app/browse/search?q=PRSS12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606709 http://www.informatics.jax.org/searchtool/Search.do?query=PRSS12&submit=Quick%0D%11197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRSS12 rs13119545 0.492212 0.5501 0.6543 0.15 2 13 exonic exonic exonic PRSS12 PRSS12 ENSG00000164099 nonsynonymous SNV nonsynonymous SNV unknown PRSS12:NM_003619:exon1:c.G164C:p.R55T, PRSS12:uc003ica.2:exon1:c.G164C:p.R55T, UNKNOWN Het;C>G 1248;59|51 Het;C>G 729;42|35 Hom;C>G 2437;0|88 N N - 4 1193832 1193832 C T snp ncRNA_exonic LOC100130872 rs900030 0.797524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic LOC100130872 AX747178,LOC100130872 ENSG00000159674 Na Na Na Na Na Na Het;C>T 407;31|18 Het;C>T 436;15|17 Hom;C>T 707;0|25 N N - 4 119948046 119948046 A C snp nonsynonymous SNV A522C Q174H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) SYNPO2 Synpo2 ENSG00000172403 synaptopodin 2 chr4:119809996-119982402 Alcoholism; Echocardiography GO:0000045;autophagosome assembly;IEA|GO:0032233;positive regulation of actin filament bundle assembly;IBA GO:0001725;stress fiber;IDA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IBA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0099023;tethering complex;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0031005;filamin binding;IDA|GO:0051371;muscle alpha-actinin binding;ISS|GO:0051393;alpha-actinin binding;IDA|GO:0071889;14-3-3 protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SYNPO2 http://www.informatics.jax.org/searchtool/Search.do?query=SYNPO2&submit=Quick%0D%13153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNPO2 rs17263971 0.221645 0.2419 0.2379 0.15 2 13 exonic exonic exonic SYNPO2 SYNPO2 ENSG00000172403 nonsynonymous SNV nonsynonymous SNV unknown SYNPO2:NM_133477:exon3:c.A522C:p.Q174H,SYNPO2:NM_001286754:exon3:c.A429C:p.Q143H,SYNPO2:NM_001128934:exon3:c.A522C:p.Q174H,SYNPO2:NM_001128933:exon3:c.A522C:p.Q174H, SYNPO2:uc010ina.3:exon3:c.A522C:p.Q174H,SYNPO2:uc010inb.3:exon3:c.A522C:p.Q174H,SYNPO2:uc003icm.4:exon3:c.A522C:p.Q174H,SYNPO2:uc010inc.3:exon2:c.A306C:p.Q102H, UNKNOWN Het;A>C 1772;54|70 Het;A>C 1222;50|51 Hom;A>C 3784;0|133 N N - 4 119951647 119951647 A G snp nonsynonymous SNV A1717G T573A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SYNPO2 Synpo2 ENSG00000172403 synaptopodin 2 chr4:119809996-119982402 Alcoholism; Echocardiography GO:0000045;autophagosome assembly;IEA|GO:0032233;positive regulation of actin filament bundle assembly;IBA GO:0001725;stress fiber;IDA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IBA|GO:0030054;cell junction;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0099023;tethering complex;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0031005;filamin binding;IDA|GO:0051371;muscle alpha-actinin binding;ISS|GO:0051393;alpha-actinin binding;IDA|GO:0071889;14-3-3 protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SYNPO2 http://www.informatics.jax.org/searchtool/Search.do?query=SYNPO2&submit=Quick%0D%13153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNPO2 rs7698598 0.843251 0.8528 0.8485 0.08 1 13 exonic exonic exonic SYNPO2 SYNPO2 ENSG00000172403 nonsynonymous SNV nonsynonymous SNV unknown SYNPO2:NM_133477:exon4:c.A1717G:p.T573A,SYNPO2:NM_001286754:exon4:c.A1624G:p.T542A,SYNPO2:NM_001128934:exon4:c.A1717G:p.T573A,SYNPO2:NM_001128933:exon4:c.A1717G:p.T573A, SYNPO2:uc010ina.3:exon4:c.A1717G:p.T573A,SYNPO2:uc010inb.3:exon4:c.A1717G:p.T573A,SYNPO2:uc003icm.4:exon4:c.A1717G:p.T573A,SYNPO2:uc010inc.3:exon3:c.A1501G:p.T501A, UNKNOWN Het;A>G 2688;100|108 Het;A>G 1751;87|75 Hom;A>G 5400;2|194 N N - 4 1204377 1204378 GC G indel downstream CTBP1 Ctbp1 ENSG00000159692 C-terminal binding protein 1 chr4:1205236-1243741 This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; diabetic nephropathy; hypertension Mice homozygous for a knock-out allele display partial postnatal lethality and decreased body size. TCF7L2 mutants don't bind CTBP GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;TAS|GO:0008152;metabolic process;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016032;viral process;IEA|GO:0019079;viral genome replication;TAS|GO:0030154;cell differentiation;IEA|GO:0031065;positive regulation of histone deacetylation;IMP|GO:0035067;negative regulation of histone acetylation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0050872;white fat cell differentiation;ISS|GO:0051726;regulation of cell cycle;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0090241;negative regulation of histone H4 acetylation;IMP|GO:1903758;negative regulation of transcription from RNA polymerase II promoter by histone modification;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0017053;transcriptional repressor complex;IDA GO:0001106;RNA polymerase II transcription corepressor activity;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;TAS|GO:0008134;transcription factor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019904;protein domain specific binding;IDA|GO:0051287;NAD binding;ISS|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CTBP1 https://hpo.jax.org/app/browse/search?q=CTBP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602618 http://www.informatics.jax.org/searchtool/Search.do?query=CTBP1&submit=Quick%0D%10363ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBP1 rs397715420 0.80651 0 0 1 0 0 ncRNA_intronic intronic downstream CTBP1-AS HV535469 ENSG00000159692 Na Na Na Na Na Na Het;-C 816;31|35 Het;-C 580;30|26 Hom;-C 1488;0|51 N N - 4 121957734 121957734 T C snp synonymous SNV A1392G S464S polar,hydrophilic,neutral polar,hydrophilic,neutral NDNF Ndnf ENSG00000173376 neuron derived neurotrophic factor chr4:121956768-121994176 GO:0001525;angiogenesis;IDA|GO:0001764;neuron migration;IDA|GO:0002931;response to ischemia;IEA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007399;nervous system development;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0016049;cell growth;IDA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0043524;negative regulation of neuron apoptotic process;IDA|GO:0061042;vascular wound healing;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0005576;extracellular region;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005622;intracellular;IEA|GO:0031012;extracellular matrix;ISS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDNF https://www.ncbi.nlm.nih.gov/omim/?term=616506 http://www.informatics.jax.org/searchtool/Search.do?query=NDNF&submit=Quick%0D%13345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDNF rs1397645 0.821486 0.8043 0.8669 1 0 0 exonic exonic exonic NDNF NDNF ENSG00000173376 synonymous SNV synonymous SNV unknown NDNF:NM_024574:exon4:c.A1392G:p.S464S, NDNF:uc003idq.1:exon4:c.A1392G:p.S464S, UNKNOWN Het;T>C 1553;88|73 Het;T>C 2799;120|125 Hom;T>C 5549;0|200 N N - 4 121958091 121958091 T G snp synonymous SNV A1035C L345L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NDNF Ndnf ENSG00000173376 neuron derived neurotrophic factor chr4:121956768-121994176 GO:0001525;angiogenesis;IDA|GO:0001764;neuron migration;IDA|GO:0002931;response to ischemia;IEA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007399;nervous system development;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0016049;cell growth;IDA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0043524;negative regulation of neuron apoptotic process;IDA|GO:0061042;vascular wound healing;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0005576;extracellular region;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005622;intracellular;IEA|GO:0031012;extracellular matrix;ISS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDNF https://www.ncbi.nlm.nih.gov/omim/?term=616506 http://www.informatics.jax.org/searchtool/Search.do?query=NDNF&submit=Quick%0D%13345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDNF rs3733558 0.429113 0.4708 0.5472 1 0 0 exonic exonic exonic NDNF NDNF ENSG00000173376 synonymous SNV synonymous SNV unknown NDNF:NM_024574:exon4:c.A1035C:p.L345L, NDNF:uc003idq.1:exon4:c.A1035C:p.L345L, UNKNOWN Het;T>G 2160;52|81 Het;T>G 1327;82|59 Hom;T>G 5124;2|175 N N - 4 121958187 121958187 A G snp synonymous SNV T939C D313D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) NDNF Ndnf ENSG00000173376 neuron derived neurotrophic factor chr4:121956768-121994176 GO:0001525;angiogenesis;IDA|GO:0001764;neuron migration;IDA|GO:0002931;response to ischemia;IEA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007399;nervous system development;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0016049;cell growth;IDA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0043524;negative regulation of neuron apoptotic process;IDA|GO:0061042;vascular wound healing;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0005576;extracellular region;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005622;intracellular;IEA|GO:0031012;extracellular matrix;ISS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDNF https://www.ncbi.nlm.nih.gov/omim/?term=616506 http://www.informatics.jax.org/searchtool/Search.do?query=NDNF&submit=Quick%0D%13345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDNF rs3822230 0.425319 0.4669 0.5454 1 0 0 exonic exonic exonic NDNF NDNF ENSG00000173376 synonymous SNV synonymous SNV unknown NDNF:NM_024574:exon4:c.T939C:p.D313D, NDNF:uc003idq.1:exon4:c.T939C:p.D313D, UNKNOWN Het;A>G 2109;99|97 Het;A>G 2328;100|110 Hom;A>G 6325;0|224 N N - 4 121958697 121958697 G A snp synonymous SNV C429T S143S polar,hydrophilic,neutral polar,hydrophilic,neutral NDNF Ndnf ENSG00000173376 neuron derived neurotrophic factor chr4:121956768-121994176 GO:0001525;angiogenesis;IDA|GO:0001764;neuron migration;IDA|GO:0002931;response to ischemia;IEA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007399;nervous system development;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0016049;cell growth;IDA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0043524;negative regulation of neuron apoptotic process;IDA|GO:0061042;vascular wound healing;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0005576;extracellular region;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005622;intracellular;IEA|GO:0031012;extracellular matrix;ISS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDNF https://www.ncbi.nlm.nih.gov/omim/?term=616506 http://www.informatics.jax.org/searchtool/Search.do?query=NDNF&submit=Quick%0D%13345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDNF rs3733560 0.399161 0.4488 0.5152 1 0 0 exonic exonic exonic NDNF NDNF ENSG00000173376 synonymous SNV synonymous SNV unknown NDNF:NM_024574:exon4:c.C429T:p.S143S, NDNF:uc003idq.1:exon4:c.C429T:p.S143S, UNKNOWN Het;G>A 2224;107|92 Het;G>A 2639;100|110 Hom;G>A 7196;0|256 N N - 4 121966807 121966807 C T snp synonymous SNV G186A K62K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NDNF Ndnf ENSG00000173376 neuron derived neurotrophic factor chr4:121956768-121994176 GO:0001525;angiogenesis;IDA|GO:0001764;neuron migration;IDA|GO:0002931;response to ischemia;IEA|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007399;nervous system development;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0016049;cell growth;IDA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0043524;negative regulation of neuron apoptotic process;IDA|GO:0061042;vascular wound healing;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0005576;extracellular region;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005622;intracellular;IEA|GO:0031012;extracellular matrix;ISS GO:0005539;glycosaminoglycan binding;IEA|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDNF https://www.ncbi.nlm.nih.gov/omim/?term=616506 http://www.informatics.jax.org/searchtool/Search.do?query=NDNF&submit=Quick%0D%13345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDNF rs2276959 0.657748 0.6701 0.7904 1 0 0 exonic exonic exonic NDNF NDNF ENSG00000173376 synonymous SNV synonymous SNV unknown NDNF:NM_024574:exon2:c.G186A:p.K62K, NDNF:uc003idq.1:exon2:c.G186A:p.K62K, UNKNOWN Het;C>T 555;16|21 Het;C>T 411;16|15 Hom;C>T 512;0|17 N N - 4 122250734 122250734 A G snp nonsynonymous SNV T1031C L344S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral QRFPR Qrfpr ENSG00000186867 pyroglutamylated RFamide peptide receptor chr4:122250467-122302214 Coronary Artery Disease; Tunica Media; Triglycerides Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/QRFPR https://www.ncbi.nlm.nih.gov/omim/?term=606925 http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR rs2302310 0.320487 0.1632 0.2485 0.46 6 13 exonic exonic exonic QRFPR QRFPR ENSG00000186867 nonsynonymous SNV nonsynonymous SNV unknown QRFPR:NM_198179:exon6:c.T1031C:p.L344S, QRFPR:uc010inj.1:exon6:c.T1031C:p.L344S, UNKNOWN Het;A>G 1838;82|79 Het;A>G 1259;67|58 Hom;A>G 3334;3|122 N N - 4 122254119 122254119 G A snp synonymous SNV C654T I218I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral QRFPR Qrfpr ENSG00000186867 pyroglutamylated RFamide peptide receptor chr4:122250467-122302214 Coronary Artery Disease; Tunica Media; Triglycerides Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/QRFPR https://www.ncbi.nlm.nih.gov/omim/?term=606925 http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR rs33977434 0.288538 0.1418 0.2340 1 0 0 exonic exonic exonic QRFPR QRFPR ENSG00000186867 synonymous SNV synonymous SNV unknown QRFPR:NM_198179:exon4:c.C654T:p.I218I, QRFPR:uc003ids.2:exon4:c.C654T:p.I218I,QRFPR:uc010inj.1:exon4:c.C654T:p.I218I, UNKNOWN Het;G>A 1959;104|90 Het;G>A 1725;114|84 Hom;G>A 6961;2|257 N N - 4 122258063 122258063 A G snp intronic QRFPR Qrfpr ENSG00000186867 pyroglutamylated RFamide peptide receptor chr4:122250467-122302214 Coronary Artery Disease; Tunica Media; Triglycerides Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/QRFPR https://www.ncbi.nlm.nih.gov/omim/?term=606925 http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR rs4490481 0.478834 0.3872 0.4779 1 0 0 intronic intronic intronic QRFPR QRFPR ENSG00000186867 Na Na Na Na Na Na Het;A>G 1017;40|48 Het;A>G 1577;60|71 Hom;A>G 2869;0|100 N N - 4 122261475 122261475 T C snp UTR3 *46A>G QRFPR Qrfpr ENSG00000186867 pyroglutamylated RFamide peptide receptor chr4:122250467-122302214 Coronary Artery Disease; Tunica Media; Triglycerides Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/QRFPR https://www.ncbi.nlm.nih.gov/omim/?term=606925 http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR rs2276957 0.281749 0 0.2116 1 0 0 intronic UTR3 intronic QRFPR QRFPR(uc010inl.1:c.*46A>G) ENSG00000186867 Na Na Na Na Na Na Het;T>C 66;6|3 Het;T>C 108;5|4 Hom;T>C 134;0|4 N N - 4 122451829 122451829 C T snp intergenic QRFPR Qrfpr ENSG00000186867 pyroglutamylated RFamide peptide receptor chr4:122250467-122302214 Coronary Artery Disease; Tunica Media; Triglycerides Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:1901652;response to peptide;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/QRFPR https://www.ncbi.nlm.nih.gov/omim/?term=606925 http://www.informatics.jax.org/searchtool/Search.do?query=QRFPR&submit=Quick%0D%15726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QRFPR rs9994817 0.640375 0 0 1 0 0 intergenic intergenic intergenic QRFPR(dist=149648),ANXA5(dist=137323) QRFPR(dist=149648),ANXA5(dist=137323) ENSG00000224062(dist=78707),ENSG00000164111(dist=137281) Na Na Na Na Na Na Het;C>T 445;22|23 Het;C>T 290;44|20 Hom;C>T 1076;0|40 N N - 4 124574008 124574008 G A snp ncRNA_exonic LINC01091 rs6534420 0.641374 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01091 LOC285419 ENSG00000249464 Na Na Na Na Na Na Het;G>A 522;32|29 Het;G>A 255;49|18 Hom;G>A 1987;0|75 N N - 4 125590478 125590478 T C snp synonymous SNV A3417G P1139P hydrophobic,neutral hydrophobic,neutral ANKRD50 ENSG00000151458 ankyrin repeat domain 50 chr4:125585207-125633887 Bilirubin; Mental Competency; Basophils; Body Mass Index; Body Weights and Measures; Triglycerides GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0015031;protein transport;IEA|GO:1990126;retrograde transport, endosome to plasma membrane;IMP GO:0005768;endosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANKRD50 https://www.uniprot.org/uniprot/Q9ULJ7 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD50&submit=Quick%0D%9420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD50 rs1874748 0.213658 0.1747 0.1849 1 0 0 exonic exonic exonic ANKRD50 ANKRD50 ENSG00000151458 synonymous SNV synonymous SNV unknown ANKRD50:NM_001167882:exon3:c.A3417G:p.P1139P,ANKRD50:NM_020337:exon4:c.A3954G:p.P1318P, ANKRD50:uc011cgo.2:exon3:c.A3417G:p.P1139P,ANKRD50:uc010inw.3:exon4:c.A3954G:p.P1318P, UNKNOWN Het;T>C 1439;65|62 Het;T>C 1831;118|88 Hom;T>C 5526;0|192 N N - 4 125591687 125591687 A G snp synonymous SNV T2208C N736N polar,hydrophilic,neutral polar,hydrophilic,neutral ANKRD50 ENSG00000151458 ankyrin repeat domain 50 chr4:125585207-125633887 Bilirubin; Mental Competency; Basophils; Body Mass Index; Body Weights and Measures; Triglycerides GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0015031;protein transport;IEA|GO:1990126;retrograde transport, endosome to plasma membrane;IMP GO:0005768;endosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANKRD50 https://www.uniprot.org/uniprot/Q9ULJ7 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD50&submit=Quick%0D%9420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD50 rs3733471 0.28734 0.2594 0.2499 1 0 0 exonic exonic exonic ANKRD50 ANKRD50 ENSG00000151458 synonymous SNV synonymous SNV unknown ANKRD50:NM_001167882:exon3:c.T2208C:p.N736N,ANKRD50:NM_020337:exon4:c.T2745C:p.N915N, ANKRD50:uc011cgo.2:exon3:c.T2208C:p.N736N,ANKRD50:uc010inw.3:exon4:c.T2745C:p.N915N, UNKNOWN Het;A>G 1564;96|68 Het;A>G 2153;117|103 Hom;A>G 6401;0|229 N N - 4 125592065 125592065 C A snp synonymous SNV G1830T A610A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ANKRD50 ENSG00000151458 ankyrin repeat domain 50 chr4:125585207-125633887 Bilirubin; Mental Competency; Basophils; Body Mass Index; Body Weights and Measures; Triglycerides GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0015031;protein transport;IEA|GO:1990126;retrograde transport, endosome to plasma membrane;IMP GO:0005768;endosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANKRD50 https://www.uniprot.org/uniprot/Q9ULJ7 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD50&submit=Quick%0D%9420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD50 rs10018651 0.286741 0.2590 0.2495 1 0 0 exonic exonic exonic ANKRD50 ANKRD50 ENSG00000151458 synonymous SNV synonymous SNV unknown ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A, ANKRD50:uc011cgo.2:exon3:c.G1830T:p.A610A,ANKRD50:uc010inw.3:exon4:c.G2367T:p.A789A, UNKNOWN Het;C>A 1672;110|72 Het;C>A 1508;136|78 Hom;C>A 6193;0|215 N N - 4 126397254 126397254 G A snp intronic FAT4 Fat4 ENSG00000196159 FAT atypical cadherin 4 chr4:126237554-126414087 The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] Stroke; Blood Flow Velocity; Lipoproteins; Waist Circumference; Tobacco Use Disorder; Erythrocytes; Body Mass Index; Ankle Brachial Index; Varicose Veins; Body Weight; Blood Pressure; Psychomotor Performance; Hip; Blood Vessels; Aorta; Heart Rate; Coronary Artery Disease; Iron; Cognitive performance; Smoking; Bipolar Disorder Homozygous inactivation of this gene leads to neonatal lethality, reduced birth body size, curly tails, kyphosis, small lungs, renal cysts, and defects in sternum and vertebrae morphology, neural tube width, cochlear elongation, stereocilia orientation, kidney development, and intestinal elongation. GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001822;kidney development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0007009;plasma membrane organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0021987;cerebral cortex development;IEA|GO:0022008;neurogenesis;IEA|GO:0035329;hippo signaling;IEA|GO:0043931;ossification involved in bone maturation;IEA|GO:0048565;digestive tract development;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0072006;nephron development;IEA|GO:0072137;condensed mesenchymal cell proliferation;IEA|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAT4 https://hpo.jax.org/app/browse/search?q=FAT4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612411 http://www.informatics.jax.org/searchtool/Search.do?query=FAT4&submit=Quick%0D%16275ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT4 rs35472819 0.00658946 0 0 1 0 0 intronic intronic intronic FAT4 FAT4 ENSG00000196159 Na Na Na Na Na Na Het;G>A 146;5|6 Ref Hom;G>A 236;0|9 N N - 4 127678507 127678507 C G snp intergenic MIR2054 rs4413416 0.314297 0 0 1 0 0 intergenic intergenic intergenic MIR2054(dist=1250045),INTU(dist=875580) MIR2054(dist=1250045),INTU(dist=875580) ENSG00000223620(dist=192576),ENSG00000199862(dist=270755) Na Na Na Na Na Na Het;C>G 913;53|45 Het;C>G 919;68|49 Hom;C>G 3146;2|120 N N - 4 127778488 127778488 G A snp intergenic MIR2054 rs13152329 0.345447 0 0 1 0 0 intergenic intergenic intergenic MIR2054(dist=1350026),INTU(dist=775599) MIR2054(dist=1350026),INTU(dist=775599) ENSG00000223620(dist=292557),ENSG00000199862(dist=170774) Na Na Na Na Na Na Het;G>A 245;22|14 Het;G>A 560;26|28 Hom;G>A 3337;0|76 N N - 4 128027869 128027869 G A snp ncRNA_exonic AC093772.1 rs13127462 0.500399 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR2054(dist=1599407),INTU(dist=526218) MIR2054(dist=1599407),INTU(dist=526218) ENSG00000248491 Na Na Na Na Na Na Het;G>A 162;9|10 Het;G>A 211;10|10 Hom;G>A 219;0|10 N N - 4 128228590 128228590 T C snp ncRNA_intronic AC093772.1 rs1443062 0.602236 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR2054(dist=1800128),INTU(dist=325497) MIR2054(dist=1800128),INTU(dist=325497) ENSG00000248491 Na Na Na Na Na Na Het;T>C 341;21|15 Het;T>C 397;18|18 Hom;T>C 1048;0|38 N N - 4 129776983 129776983 C CT indel intronic JADE1 Jade1 ENSG00000077684 jade family PHD finger 1 chr4:129730779-129796379 Though mice homozygous for mutations of this locus show no overt phenotype at birth, fewer survive to weaning than expected by Mendelian ratios. HATs acetylate histones GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006915;apoptotic process;IEA|GO:0006950;response to stress;NAS|GO:0030308;negative regulation of cell growth;NAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043983;histone H4-K12 acetylation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/JADE1 https://www.uniprot.org/uniprot/Q6IE81 https://www.ncbi.nlm.nih.gov/omim/?term=610514 http://www.informatics.jax.org/searchtool/Search.do?query=JADE1&submit=Quick%0D%1633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JADE1 rs76983300 0 0.4526 0.5569 1 0 0 intronic intronic intronic JADE1 PHF17 ENSG00000077684 Na Na Na Na Na Na Het;+T 391;15|19 Het;+T 210;17|12 Hom;+T 598;0|24 N N - 4 129924977 129924977 C A snp synonymous SNV G345T L115L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SCLT1 Sclt1 ENSG00000151466 sodium channel and clathrin linker 1 chr4:129786076-130014764 This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Homozygous knockout causes polycystic kidney disease, impaired postnatal weight gain and premature death (before 1 month of age). Anchoring of the basal body to the plasma membrane GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0060271;cilium assembly;IMP|GO:0065009;regulation of molecular function;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA|GO:0071439;clathrin complex;IEA|GO:0097539;ciliary transition fiber;IDA GO:0008022;protein C-terminus binding;IEA|GO:0017080;sodium channel regulator activity;IEA|GO:0030276;clathrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCLT1 https://www.uniprot.org/uniprot/Q96NL6 https://www.ncbi.nlm.nih.gov/omim/?term=611399 http://www.informatics.jax.org/searchtool/Search.do?query=SCLT1&submit=Quick%0D%9423ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCLT1 rs3113487 0.540136 0.5411 0.6267 1 0 0 exonic exonic exonic SCLT1 SCLT1 ENSG00000151466 synonymous SNV synonymous SNV unknown SCLT1:NM_144643:exon6:c.G345T:p.L115L, SCLT1:uc003igq.2:exon6:c.G345T:p.L115L,SCLT1:uc003igp.2:exon6:c.G345T:p.L115L, UNKNOWN Het;C>A 1133;97|58 Het;C>A 2640;122|126 Hom;C>A 6033;2|232 N N - 4 129961179 129961179 A G snp UTR3 *183T>C SCLT1 Sclt1 ENSG00000151466 sodium channel and clathrin linker 1 chr4:129786076-130014764 This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Homozygous knockout causes polycystic kidney disease, impaired postnatal weight gain and premature death (before 1 month of age). Anchoring of the basal body to the plasma membrane GO:0045162;clustering of voltage-gated sodium channels;IEA|GO:0060271;cilium assembly;IMP|GO:0065009;regulation of molecular function;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA|GO:0071439;clathrin complex;IEA|GO:0097539;ciliary transition fiber;IDA GO:0008022;protein C-terminus binding;IEA|GO:0017080;sodium channel regulator activity;IEA|GO:0030276;clathrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCLT1 https://www.uniprot.org/uniprot/Q96NL6 https://www.ncbi.nlm.nih.gov/omim/?term=611399 http://www.informatics.jax.org/searchtool/Search.do?query=SCLT1&submit=Quick%0D%9423ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCLT1 rs3113489 0.712061 0 0 1 0 0 UTR3 UTR3 UTR3 SCLT1(NM_001300897:c.*183T>C) SCLT1(uc003igt.4:c.*183T>C) ENSG00000151466(ENST00000511426:c.*183T>C,ENST00000503401:c.*183T>C) Na Na Na Na Na Na Het;A>G 84;2|3 Ref Hom;A>G 220;0|6 N N - 4 130023759 130023759 A T snp UTR5 -7A>T C4orf33 D3Ertd751e ENSG00000151470 chromosome 4 open reading frame 33 chr4:130014472-130037795 Echocardiography; Coronary Artery Disease; Hypertension; Obesity; Blood Pressure; Maximal Midexpiratory Flow Rate; Inflammation; Uric Acid; Respiratory Function Tests; Stroke GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C4orf33 https://www.uniprot.org/uniprot/Q8N1A6 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf33&submit=Quick%0D%9425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf33 rs1757935 0.682708 0.6870 0.7822 1 0 0 UTR5 UTR5 UTR5 C4orf33(NM_173487:c.-7A>T,NM_001099783:c.-7A>T) C4orf33(uc010ioc.1:c.-7A>T,uc003igu.4:c.-7A>T,uc010iod.3:c.-7A>T) ENSG00000151470(ENST00000281146:c.-7A>T,ENST00000502887:c.-7A>T,ENST00000425929:c.-7A>T,ENST00000508673:c.-7A>T,ENST00000508622:c.-7A>T) Na Na Na Na Na Na Het;A>T 897;35|37 Het;A>T 832;34|35 Hom;A>T 2814;0|106 N N - 4 130030652 130030652 A G snp nonsynonymous SNV A319G M107V hydrophobic,neutral aliphatic,hydrophobic,neutral C4orf33 D3Ertd751e ENSG00000151470 chromosome 4 open reading frame 33 chr4:130014472-130037795 Echocardiography; Coronary Artery Disease; Hypertension; Obesity; Blood Pressure; Maximal Midexpiratory Flow Rate; Inflammation; Uric Acid; Respiratory Function Tests; Stroke GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C4orf33 https://www.uniprot.org/uniprot/Q8N1A6 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf33&submit=Quick%0D%9425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf33 rs337277 0.695088 0.6974 0.7845 0.23 3 13 exonic exonic exonic C4orf33 C4orf33 ENSG00000151470 nonsynonymous SNV nonsynonymous SNV unknown C4orf33:NM_173487:exon5:c.A319G:p.M107V,C4orf33:NM_001099783:exon5:c.A319G:p.M107V, C4orf33:uc003igu.4:exon5:c.A319G:p.M107V,C4orf33:uc010iod.3:exon5:c.A319G:p.M107V,C4orf33:uc010ioc.1:exon5:c.A319G:p.M107V, UNKNOWN Het;A>G 888;41|31 Het;A>G 738;28|29 Hom;A>G 1525;0|49 N N - 4 130030944 130030944 C A snp UTR3 *113C>A C4orf33 D3Ertd751e ENSG00000151470 chromosome 4 open reading frame 33 chr4:130014472-130037795 Echocardiography; Coronary Artery Disease; Hypertension; Obesity; Blood Pressure; Maximal Midexpiratory Flow Rate; Inflammation; Uric Acid; Respiratory Function Tests; Stroke GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C4orf33 https://www.uniprot.org/uniprot/Q8N1A6 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf33&submit=Quick%0D%9425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf33 rs337276 0.532348 0 0 1 0 0 intronic UTR3 UTR3 C4orf33 C4orf33(uc010ioc.1:c.*113C>A) ENSG00000151470(ENST00000502887:c.*113C>A) Na Na Na Na Na Na Het;C>A 180;8|8 Het;C>A 162;8|6 Hom;C>A 403;0|13 N N - 4 130057715 130057715 C T snp ncRNA_exonic ZSWIM5P3 rs67411785 0.365815 0 0 1 0 0 intergenic intergenic ncRNA_exonic C4orf33(dist=23872),LOC101927282(dist=587611) C4orf33(dist=23872),Mir_340(dist=249419) ENSG00000248958 Na Na Na Na Na Na Het;C>T 576;20|24 Het;C>T 310;26|15 Hom;C>T 494;0|18 N N - 4 130057807 130057807 G A snp ncRNA_exonic ZSWIM5P3 rs17789752 0.255591 0 0 1 0 0 intergenic intergenic ncRNA_exonic C4orf33(dist=23964),LOC101927282(dist=587519) C4orf33(dist=23964),Mir_340(dist=249327) ENSG00000248958 Na Na Na Na Na Na Het;G>A 257;10|12 Het;G>A 85;10|5 Hom;G>A 183;0|7 N N - 4 130057995 130057995 T C snp ncRNA_intronic ZSWIM5P3 rs17014246 0.190695 0 0 1 0 0 intergenic intergenic ncRNA_intronic C4orf33(dist=24152),LOC101927282(dist=587331) C4orf33(dist=24152),Mir_340(dist=249139) ENSG00000248958 Na Na Na Na Na Na Het;T>C 91;3|5 Het;T>C 119;4|5 Hom;T>C 179;0|7 N N - 4 130058979 130058979 G A snp ncRNA_exonic ZSWIM5P3 rs1709421 0.709665 0 0 1 0 0 intergenic intergenic ncRNA_exonic C4orf33(dist=25136),LOC101927282(dist=586347) C4orf33(dist=25136),Mir_340(dist=248155) ENSG00000248958 Na Na Na Na Na Na Het;G>A 279;15|11 Het;G>A 294;23|14 Hom;G>A 594;0|21 N N - 4 130382780 130382780 A T snp intergenic C4orf33 D3Ertd751e ENSG00000151470 chromosome 4 open reading frame 33 chr4:130014472-130037795 Echocardiography; Coronary Artery Disease; Hypertension; Obesity; Blood Pressure; Maximal Midexpiratory Flow Rate; Inflammation; Uric Acid; Respiratory Function Tests; Stroke GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C4orf33 https://www.uniprot.org/uniprot/Q8N1A6 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf33&submit=Quick%0D%9425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf33 rs652938 0.333067 0 0 1 0 0 intergenic intergenic intergenic C4orf33(dist=348937),LOC101927282(dist=262546) Mir_340(dist=75549),BC035172(dist=262546) ENSG00000250193(dist=156603),ENSG00000246876(dist=262546) Na Na Na Na Na Na Het;A>T 483;10|15 Het;A>T 330;5|11 Hom;A>T 318;0|9 N N - 4 130645854 130645854 T A snp ncRNA_exonic LOC101927282 rs13137438 0.355232 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101927282 BC035172 ENSG00000246876 Na Na Na Na Na Na Het;T>A 1632;114|71 Het;T>A 1746;83|78 Hom;T>A 5058;1|183 N N - 4 130645957 130645957 C T snp ncRNA_exonic LOC101927282 rs13115271 0.353035 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101927282 BC035172 ENSG00000246876 Na Na Na Na Na Na Het;C>T 1003;100|49 Het;C>T 1010;49|49 Hom;C>T 3346;0|123 N N - 4 130992660 130992660 T C snp intergenic LOC101927282 rs2131501 0.626997 0 0 1 0 0 intergenic intergenic intergenic LOC101927282(dist=300027),LOC101927305(dist=1693333) BC041448(dist=116137),BC131768(dist=1656593) ENSG00000249618(dist=116137),ENSG00000251326(dist=304724) Na Na Na Na Na Na Het;T>C 503;23|26 Het;T>C 668;42|33 Hom;T>C 2138;0|84 N N - 4 131142705 131142705 G A snp intergenic LOC101927282 rs62310910 0.236022 0 0 1 0 0 intergenic intergenic intergenic LOC101927282(dist=450072),LOC101927305(dist=1543288) BC041448(dist=266182),BC131768(dist=1506548) ENSG00000249618(dist=266182),ENSG00000251326(dist=154679) Na Na Na Na Na Na Het;G>A 1732;104|84 Het;G>A 1536;87|76 Hom;G>A 5497;4|214 N N - 4 131642691 131642691 T C snp intergenic LOC101927282 rs424475 0.439297 0 0 1 0 0 intergenic intergenic intergenic LOC101927282(dist=950058),LOC101927305(dist=1043302) BC041448(dist=766168),BC131768(dist=1006562) ENSG00000249018(dist=217192),ENSG00000250503(dist=159491) Na Na Na Na Na Na Het;T>C 152;6|8 Ref Hom;T>C 157;0|7 N N - 4 131992668 131992668 T G snp intergenic LOC101927282 rs366876 0.477835 0 0 1 0 0 intergenic intergenic intergenic LOC101927282(dist=1300035),LOC101927305(dist=693325) BC041448(dist=1116145),BC131768(dist=656585) ENSG00000250503(dist=185872),ENSG00000250213(dist=41235) Na Na Na Na Na Na Het;T>G 138;15|8 Het;T>G 150;11|8 Hom;T>G 356;0|14 N N - 4 131992707 131992707 T C snp intergenic LOC101927282 rs372003 0.478435 0 0 1 0 0 intergenic intergenic intergenic LOC101927282(dist=1300074),LOC101927305(dist=693286) BC041448(dist=1116184),BC131768(dist=656546) ENSG00000250503(dist=185911),ENSG00000250213(dist=41196) Na Na Na Na Na Na Het;T>C 133;13|8 Het;T>C 138;12|8 Hom;T>C 319;0|14 N N - 4 132380839 132380839 G A snp ncRNA_intronic LINC02377 rs2662066 0.394569 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927282(dist=1688206),LOC101927305(dist=305154) BC041448(dist=1504316),BC131768(dist=268414) ENSG00000250102 Na Na Na Na Na Na Het;G>A 49;1|3 Ref Hom;G>A 258;0|11 N N - 4 132392727 132392727 A G snp ncRNA_intronic LINC02377 rs971005 0.160343 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927282(dist=1700094),LOC101927305(dist=293266) BC041448(dist=1516204),BC131768(dist=256526) ENSG00000250102 Na Na Na Na Na Na Het;A>G 74;4|3 Het;A>G 264;9|13 Hom;A>G 635;0|23 N N - 4 132811161 132811161 C A snp intergenic LOC101927305 rs56274315 0.170128 0 0 1 0 0 intergenic intergenic intergenic LOC101927305(dist=98524),LINC01256(dist=701083) BC131768(dist=159995),BC040219(dist=1203855) ENSG00000184139(dist=32093),ENSG00000251555(dist=40025) Na Na Na Na Na Na Het;C>A 157;13|7 Het;C>A 314;8|11 Hom;C>A 604;0|18 N N - 4 1330983 1330983 A C snp intronic MAEA Maea ENSG00000090316 macrophage erythroblast attacher chr4:1283639-1333935 This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Diabetes Mellitus, Type 2 Mice homozygous for a gene trapped allele die perinatally displaying reduced fetal size, pallor, reduced numbers of erythroblastic islands, defects in terminal erythroid maturation, and severely impaired terminal differentiation of fetal liver macrophages. GO:0007010;cytoskeleton organization;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IDA|GO:0007346;regulation of mitotic cell cycle;NAS|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0043249;erythrocyte maturation;IEA|GO:0045721;negative regulation of gluconeogenesis;IEA|GO:0048821;erythrocyte development;IEA|GO:0048822;enucleate erythrocyte development;IEA|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IDA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IDA|GO:0034657;GID complex;IBA GO:0003779;actin binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MAEA https://www.uniprot.org/uniprot/Q7L5Y9 https://www.ncbi.nlm.nih.gov/omim/?term=606801 http://www.informatics.jax.org/searchtool/Search.do?query=MAEA&submit=Quick%0D%2093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAEA rs13135102 0.201677 0 0 1 0 0 intronic intronic intronic MAEA MAEA ENSG00000090316 Na Na Na Na Na Na Het;A>C 73;5|3 Ref Hom;A>C 179;0|5 N N - 4 133112690 133112690 C T snp intergenic LOC101927305 rs171158 0.474042 0 0 1 0 0 intergenic intergenic intergenic LOC101927305(dist=400053),LINC01256(dist=399554) BC131768(dist=461524),BC040219(dist=902326) ENSG00000251598(dist=67504),ENSG00000251051(dist=176251) Na Na Na Na Na Na Het;C>T 799;37|36 Het;C>T 468;28|23 Hom;C>T 1476;0|55 N N - 4 1334007 1334007 G A snp downstream MAEA Maea ENSG00000090316 macrophage erythroblast attacher chr4:1283639-1333935 This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Diabetes Mellitus, Type 2 Mice homozygous for a gene trapped allele die perinatally displaying reduced fetal size, pallor, reduced numbers of erythroblastic islands, defects in terminal erythroid maturation, and severely impaired terminal differentiation of fetal liver macrophages. GO:0007010;cytoskeleton organization;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IDA|GO:0007346;regulation of mitotic cell cycle;NAS|GO:0033033;negative regulation of myeloid cell apoptotic process;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0043249;erythrocyte maturation;IEA|GO:0045721;negative regulation of gluconeogenesis;IEA|GO:0048821;erythrocyte development;IEA|GO:0048822;enucleate erythrocyte development;IEA|GO:0051301;cell division;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IDA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IDA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IDA|GO:0034657;GID complex;IBA GO:0003779;actin binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MAEA https://www.uniprot.org/uniprot/Q7L5Y9 https://www.ncbi.nlm.nih.gov/omim/?term=606801 http://www.informatics.jax.org/searchtool/Search.do?query=MAEA&submit=Quick%0D%2093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAEA rs13128825 0.201278 0 0 1 0 0 downstream downstream downstream MAEA MAEA ENSG00000090316 Na Na Na Na Na Na Het;G>A 168;11|6 Het;G>A 261;8|10 Hom;G>A 267;0|8 N N - 4 133538320 133538320 T C snp ncRNA_intronic LINC01256 rs13102254 0.354233 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01256 BC131768(dist=887154),BC040219(dist=476696) ENSG00000251398 Na Na Na Na Na Na Het;T>C 66;8|3 Het;T>C 61;12|5 Hom;T>C 255;0|10 N N - 4 133558396 133558396 C T snp ncRNA_intronic LINC01256 rs13143849 0.256989 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01256 BC131768(dist=907230),BC040219(dist=456620) ENSG00000251398 Na Na Na Na Na Na Het;C>T 56;1|4 Ref Hom;C>T 109;0|5 N N - 4 133558423 133558423 G A snp ncRNA_intronic LINC01256 rs13144165 0.256989 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01256 BC131768(dist=907257),BC040219(dist=456593) ENSG00000251398 Na Na Na Na Na Na Het;G>A 53;2|4 Ref Hom;G>A 120;0|6 N N - 4 133583664 133583664 A G snp ncRNA_intronic LINC01256 rs1435309 0.264177 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LINC01256 BC131768(dist=932498),BC040219(dist=431352) ENSG00000251398 Na Na Na Na Na Na Het;A>G 182;10|6 Het;A>G 199;5|7 Hom;A>G 334;0|11 N N - 4 134160374 134160374 G A snp intergenic PCDH10 Pcdh10 ENSG00000138650 protocadherin 10 chr4:134070470-134129356 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Respiratory Function Tests; Maximal Midexpiratory Flow Rate; Hemoglobins; Tobacco Use Disorder; Lipoproteins, VLDL; Bone Density; Fibrinogen; Coronary Artery Disease; Receptors, Tumor Necrosis Factor Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCDH10 https://www.uniprot.org/uniprot/Q9P2E7 https://www.ncbi.nlm.nih.gov/omim/?term=608286 http://www.informatics.jax.org/searchtool/Search.do?query=PCDH10&submit=Quick%0D%7764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH10 rs28762378 0.520168 0 0 1 0 0 intergenic intergenic intergenic PCDH10(dist=44609),PABPC4L(dist=957115) BC042378(dist=44614),PABPC4L(dist=957115) NONE(dist=NONE),ENSG00000221637(dist=321637) Na Na Na Na Na Na Het;G>A 663;27|30 Het;G>A 637;34|33 Hom;G>A 1524;0|54 N N - 4 1343168 1343168 C T snp intronic UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs4974603 0.221246 0 0 1 0 0 intronic intronic intronic UVSSA UVSSA ENSG00000163945 Na Na Na Na Na Na Het;C>T 459;12|14 Ref Hom;C>T 304;0|8 N N - 4 1343720 1343720 G A snp intronic UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs11247994 0.195887 0 0 1 0 0 intronic intronic intronic UVSSA UVSSA ENSG00000163945 Na Na Na Na Na Na Het;G>A 236;6|10 Het;G>A 111;5|6 Hom;G>A 248;0|8 N N - 4 134511210 134511210 C T snp intergenic PCDH10 Pcdh10 ENSG00000138650 protocadherin 10 chr4:134070470-134129356 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Respiratory Function Tests; Maximal Midexpiratory Flow Rate; Hemoglobins; Tobacco Use Disorder; Lipoproteins, VLDL; Bone Density; Fibrinogen; Coronary Artery Disease; Receptors, Tumor Necrosis Factor Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCDH10 https://www.uniprot.org/uniprot/Q9P2E7 https://www.ncbi.nlm.nih.gov/omim/?term=608286 http://www.informatics.jax.org/searchtool/Search.do?query=PCDH10&submit=Quick%0D%7764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH10 rs1911559 0.288139 0 0 1 0 0 intergenic intergenic intergenic PCDH10(dist=395445),PABPC4L(dist=606279) BC042378(dist=395450),PABPC4L(dist=606279) ENSG00000250191(dist=14847),ENSG00000251388(dist=281191) Na Na Na Na Na Na Het;C>T 236;23|12 Het;C>T 248;18|11 Hom;C>T 948;1|38 N N - 4 134605650 134605650 T A snp intergenic PCDH10 Pcdh10 ENSG00000138650 protocadherin 10 chr4:134070470-134129356 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Respiratory Function Tests; Maximal Midexpiratory Flow Rate; Hemoglobins; Tobacco Use Disorder; Lipoproteins, VLDL; Bone Density; Fibrinogen; Coronary Artery Disease; Receptors, Tumor Necrosis Factor Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCDH10 https://www.uniprot.org/uniprot/Q9P2E7 https://www.ncbi.nlm.nih.gov/omim/?term=608286 http://www.informatics.jax.org/searchtool/Search.do?query=PCDH10&submit=Quick%0D%7764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDH10 rs2420838 0.471645 0 0 1 0 0 intergenic intergenic intergenic PCDH10(dist=489885),PABPC4L(dist=511839) BC042378(dist=489890),PABPC4L(dist=511839) ENSG00000250191(dist=109287),ENSG00000251388(dist=186751) Na Na Na Na Na Na Het;T>A 118;3|6 Het;T>A 319;5|14 Hom;T>A 187;0|7 N N - 4 1348691 1348691 T TG indel intronic UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs33989352 0.225839 0 0 1 0 0 intronic intronic intronic UVSSA UVSSA ENSG00000163945 Na Na Na Na Na Na Het;+G 548;39|27 Het;+G 901;38|41 Hom;+G 1613;2|59 N N - 4 1348806 1348806 A C snp intronic UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs3903127 0.337061 0 0 1 0 0 intronic intronic intronic UVSSA UVSSA ENSG00000163945 Na Na Na Na Na Na Het;A>C 748;32|23 Het;A>C 632;18|22 Hom;A>C 1045;2|32 N N - 4 135571981 135571981 G A snp intergenic PABPC4L Pabpc4l ENSG00000254535 poly(A) binding protein cytoplasmic 4 like chr4:135117488-135122903 Hematocrit; Apolipoproteins B; Erythrocyte Count; Coronary Disease; Cholesterol, LDL GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC4L http://www.informatics.jax.org/searchtool/Search.do?query=PABPC4L&submit=Quick%0D%20064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC4L rs4449468 0.762181 0 0 1 0 0 intergenic intergenic intergenic PABPC4L(dist=449078),LINC00613(dist=1216157) BC032916(dist=323380),NONE(dist=NONE) ENSG00000251291(dist=192974),ENSG00000249000(dist=108573) Na Na Na Na Na Na Het;G>A 166;5|6 Het;G>A 57;4|3 Hom;G>A 235;0|7 N N - 4 135967982 135967982 T C snp ncRNA_exonic AC104619.3 rs7666275 0.715256 0 0 1 0 0 intergenic intergenic ncRNA_exonic PABPC4L(dist=845079),LINC00613(dist=820156) BC032916(dist=719381),NONE(dist=NONE) ENSG00000250144 Na Na Na Na Na Na Het;T>C 111;9|6 Het;T>C 188;11|9 Hom;T>C 199;0|7 N N - 4 1369885 1369885 G A snp synonymous SNV G1497A A499A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs11724369 0.182308 0.2825 0.3676 1 0 0 exonic exonic exonic UVSSA UVSSA ENSG00000163945 synonymous SNV synonymous SNV unknown UVSSA:NM_020894:exon10:c.G1497A:p.A499A, UVSSA:uc010ibv.3:exon3:c.G150A:p.A50A,UVSSA:uc003gde.4:exon10:c.G1497A:p.A499A, UNKNOWN Het;G>A 1182;61|59 Het;G>A 824;32|41 Hom;G>A 2834;2|112 N N - 4 1373751 1373751 G T snp intronic UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs35735964 0.184704 0 0 1 0 0 intronic intronic intronic UVSSA UVSSA ENSG00000163945 Na Na Na Na Na Na Het;G>T 99;7|5 Ref Hom;G>T 80;0|4 N N - 4 137884706 137884707 CT C indel ncRNA_intronic AC096729.1 rs201267313 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00613(dist=1049871),PCDH18(dist=555366) NONE(dist=NONE),BC031238(dist=230203) ENSG00000248869 Na Na Na Na Na Na Het;-T 125;15|13 Ref Hom;-T 440;2|25 N N - 4 1388350 1388350 G GTGCCCATGTGGAGTGCCCGCCTGCTCACACA indel frameshift substitution 51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs750778284 0 0 0.0576 1 0 0 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 frameshift substitution frameshift substitution unknown CRIPAK:NM_175918:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA, CRIPAK:uc003gdf.2:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA, UNKNOWN Het;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA 1784;66|33 Het;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA 1289;47|24 Hom;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA 3475;2|64 N N - 4 1388413 1388413 T C snp synonymous SNV T114C C38C polar,hydrophobic,neutral polar,hydrophobic,neutral CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs78309237 0.211661 0.3189 0.2554 1 0 0 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 synonymous SNV synonymous SNV unknown CRIPAK:NM_175918:exon1:c.T114C:p.C38C, CRIPAK:uc003gdf.2:exon1:c.T114C:p.C38C, UNKNOWN Het;T>C 1594;90|44 Het;T>C 1637;60|45 Hom;T>C 3544;1|78 N N - 4 1388429 1388429 G A snp nonsynonymous SNV G130A A44T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs79298048 0.188498 0.3037 0.2488 0.17 2 12 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 nonsynonymous SNV nonsynonymous SNV unknown CRIPAK:NM_175918:exon1:c.G130A:p.A44T, CRIPAK:uc003gdf.2:exon1:c.G130A:p.A44T, UNKNOWN Het;G>A 1356;103|47 Het;G>A 1817;66|54 Hom;G>A 2249;4|92 N N - 4 1388635 1388635 T C snp synonymous SNV T336C C112C polar,hydrophobic,neutral polar,hydrophobic,neutral CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs74518227 0.0515176 0 0.0139 1 0 0 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 synonymous SNV synonymous SNV unknown CRIPAK:NM_175918:exon1:c.T336C:p.C112C, CRIPAK:uc003gdf.2:exon1:c.T336C:p.C112C, UNKNOWN Het;T>C 1438;55|36 Het;T>C 1750;64|45 Hom;T>C 3607;0|77 N N - 4 1389101 1389101 A G snp nonsynonymous SNV A802G S268G polar,hydrophilic,neutral aliphatic,neutral CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs71614971 0.19988 0.2940 0.2987 0.08 1 12 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 nonsynonymous SNV nonsynonymous SNV unknown CRIPAK:NM_175918:exon1:c.A802G:p.S268G, CRIPAK:uc003gdf.2:exon1:c.A802G:p.S268G, UNKNOWN Het;A>G 710;16|23 Het;A>G 335;19|14 Hom;A>G 1409;1|45 N N - 4 1389161 1389161 A G snp nonsynonymous SNV A862G S288G polar,hydrophilic,neutral aliphatic,neutral CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs71614973 0.209864 0 0.3167 0.08 1 12 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 nonsynonymous SNV nonsynonymous SNV unknown CRIPAK:NM_175918:exon1:c.A862G:p.S288G, CRIPAK:uc003gdf.2:exon1:c.A862G:p.S288G, UNKNOWN Het;A>G 894;16|29 Het;A>G 308;18|13 Hom;A>G 1605;0|39 N N - 4 138948686 138948687 AT A indel ncRNA_exonic LINC00616 rs397880758 0.925919 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00616 LINC00616 ENSG00000248307 Na Na Na Na Na Na Het;-T 1515;69|75 Het;-T 1805;87|89 Hom;-T 5300;2|204 N N - 4 138949061 138949061 T A snp ncRNA_intronic LINC00616 rs7679032 0.863419 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC00616 LINC00616 ENSG00000248307 Na Na Na Na Na Na Het;T>A 538;26|25 Het;T>A 921;41|42 Hom;T>A 2507;0|89 N N - 4 138969534 138969534 T C snp ncRNA_exonic LINC00616 rs7699634 0.926717 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00616 LINC00616 ENSG00000248307 Na Na Na Na Na Na Het;T>C 619;30|25 Het;T>C 466;24|21 Hom;T>C 1292;0|41 N N - 4 139044933 139044933 A G snp ncRNA_exonic LINC00616 rs7691006 0.953874 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC00616 LINC00616 ENSG00000248307 Na Na Na Na Na Na Het;A>G 947;69|48 Het;A>G 1295;81|68 Hom;A>G 2830;0|112 N N - 4 139345618 139345618 A G snp downstream LINC00499 rs2912467 0.768371 0 0 1 0 0 downstream downstream downstream LINC00499 LINC00499 ENSG00000251372 Na Na Na Na Na Na Het;A>G 113;3|5 Het;A>G 111;6|4 Hom;A>G 73;0|4 N N - 4 139402514 139402514 T C snp ncRNA_exonic AC105416.1 rs13101897 0.398363 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00499(dist=57016),CCRN4L(dist=534399) LINC00499(dist=57016),CCRN4L(dist=534429) ENSG00000248305 Na Na Na Na Na Na Het;T>C 325;22|16 Het;T>C 359;10|15 Hom;T>C 654;0|24 N N - 4 1397611 1397611 A C snp intronic NKX1-1 ENSG00000235608 NK1 homeobox 1 chr4:1396720-1400119 Mice homozygous for disruptions in this gene show poor growth and survival. Most die within the first three weeks of life. Those that reach adulthood are fertile but do not produce viable offspring. GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006629;lipid metabolic process;IEA|GO:0008150;biological_process;ND|GO:0010906;regulation of glucose metabolic process;IEA|GO:0043467;regulation of generation of precursor metabolites and energy;IEA|GO:0050877;neurological system process;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NKX1-1 http://www.informatics.jax.org/searchtool/Search.do?query=NKX1-1&submit=Quick%0D%19346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX1-1 rs13133264 0.249002 0 0.3050 1 0 0 intronic intergenic intronic NKX1-1 CRIPAK(dist=7829),AX748388(dist=178177) ENSG00000235608 Na Na Na Na Na Na Het;A>C 1139;40|51 Het;A>C 797;23|35 Hom;A>C 1278;0|48 N N - 4 139917169 139917169 A T snp ncRNA_exonic AC109927.1 rs2271776 0.38778 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00499(dist=571671),CCRN4L(dist=19744) LINC00499(dist=571671),CCRN4L(dist=19774) ENSG00000250195 Na Na Na Na Na Na Het;A>T 1055;52|48 Het;A>T 1133;53|57 Hom;A>T 2338;0|87 N N - 4 140005592 140005592 G GGGCGGC indel UTR5 -248C>GCCGCCC ELF2 Elf2 ENSG00000109381 E74 like ETS transcription factor 2 chr4:139949266-140098372 hepatitis B RUNX1 regulates transcription of genes involved in BCR signaling GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0030154;cell differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ELF2 https://www.uniprot.org/uniprot/Q15723 http://www.informatics.jax.org/searchtool/Search.do?query=ELF2&submit=Quick%0D%3844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELF2 Na 0 0 0 1 0 0 intronic intronic UTR5 ELF2 ELF2 ENSG00000109381(ENST00000358635:c.-248C>GCCGCCC) Na Na Na Na Na Na Het;+GGCGGC 185;1|6 Ref Hom;+GGCGGC 451;0|10 N N - 4 140616462 140616462 G A snp intronic MGST2 Mgst2 ENSG00000085871 microsomal glutathione S-transferase 2 chr4:140586922-140661899 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011] Pancreatic Neoplasms; psoriasis; Pulse; Tobacco Use Disorder; drug-related genes Mice homozygous for a gene trap allele display resistance to induced ER stress related cell death and mortality. Aflatoxin activation and detoxification GO:0006691;leukotriene metabolic process;IEA|GO:0006750;glutathione biosynthetic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0010243;response to organonitrogen compound;IEA|GO:0019370;leukotriene biosynthetic process;IDA|GO:0032496;response to lipopolysaccharide;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS GO:0005635;nuclear envelope;IBA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004364;glutathione transferase activity;TAS|GO:0004464;leukotriene-C4 synthase activity;IDA|GO:0004602;glutathione peroxidase activity;IBA|GO:0005515;protein binding;IPI|GO:0008047;enzyme activator activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGST2 https://www.uniprot.org/uniprot/Q99735 https://www.ncbi.nlm.nih.gov/omim/?term=601733 http://www.informatics.jax.org/searchtool/Search.do?query=MGST2&submit=Quick%0D%1906ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGST2 rs2646077 0.545327 0.4550 0.3865 1 0 0 intronic intronic intronic MGST2 MGST2 ENSG00000085871 Na Na Na Na Na Na Het;G>A 1460;83|69 Het;G>A 1513;66|68 Hom;G>A 4836;0|178 N N - 4 141562798 141562798 G T snp ncRNA_exonic TNRC18P1 rs35060427 0.353435 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic TNRC18P1 TNRC18P1 ENSG00000109436 Na Na Na Na Na Na Het;G>T 2195;37|84 Het;G>T 1572;21|63 Hom;G>T 2673;2|99 N N - 4 141578155 141578155 C T snp intronic TBC1D9 Tbc1d9 ENSG00000109436 TBC1 domain family member 9 chr4:141541919-141677274 Myocardial Infarction; Tobacco Use Disorder GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D9 https://www.uniprot.org/uniprot/Q6ZT07 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D9&submit=Quick%0D%3847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D9 rs7683748 0.587061 0 0 1 0 0 intronic intronic intronic TBC1D9 TBC1D9 ENSG00000109436 Na Na Na Na Na Na Het;C>T 210;10|7 Het;C>T 353;2|11 Hom;C>T 227;0|7 N N - 4 143007419 143007419 A G snp intronic INPP4B Inpp4b ENSG00000109452 inositol polyphosphate-4-phosphatase type II B chr4:142944313-143768585 INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] C-Reactive Protein; Echocardiography; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. Synthesis of IP2, IP, and Ins in the cytosol GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0016316;phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017161;inositol-1,3,4-trisphosphate 4-phosphatase activity;TAS|GO:0034597;phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity;IEA|GO:0052828;inositol-3,4-bisphosphate 4-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/INPP4B https://www.uniprot.org/uniprot/O15327 https://www.ncbi.nlm.nih.gov/omim/?term=607494 http://www.informatics.jax.org/searchtool/Search.do?query=INPP4B&submit=Quick%0D%3849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP4B rs336324 0.604832 0.5949 0.7139 1 0 0 intronic intronic intronic INPP4B INPP4B ENSG00000109452 Na Na Na Na Na Na Het;A>G 1049;42|42 Het;A>G 404;32|19 Hom;A>G 1978;0|67 N N - 4 143007460 143007460 T G snp intronic INPP4B Inpp4b ENSG00000109452 inositol polyphosphate-4-phosphatase type II B chr4:142944313-143768585 INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] C-Reactive Protein; Echocardiography; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. Synthesis of IP2, IP, and Ins in the cytosol GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043647;inositol phosphate metabolic process;TAS GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0016316;phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0017161;inositol-1,3,4-trisphosphate 4-phosphatase activity;TAS|GO:0034597;phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity;IEA|GO:0052828;inositol-3,4-bisphosphate 4-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/INPP4B https://www.uniprot.org/uniprot/O15327 https://www.ncbi.nlm.nih.gov/omim/?term=607494 http://www.informatics.jax.org/searchtool/Search.do?query=INPP4B&submit=Quick%0D%3849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP4B rs336323 0.604832 0.6359 0.7102 1 0 0 intronic intronic intronic INPP4B INPP4B ENSG00000109452 Na Na Na Na Na Na Het;T>G 713;20|25 Het;T>G 282;19|11 Hom;T>G 908;0|29 N N - 4 145261999 145261999 A G snp intergenic GYPA ENSG00000170180 glycophorin A (MNS blood group) chr4:145030457-145061904 Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008] Chronic Obstructive Pulmonary Disease; hypertension; beta-glucuronidase; anaphylactoid purpura; Socioeconomic Factors; lung function; PAH metabolites, urinary; Respiratory Function Tests; Atopy; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;; Metabolism; normal variation; null; PAH metabolites, urinary; benzene toxicity; alpha-amylase; cerebral malaria; Bipolar Disorder; Crohn's disease; asthma; malaria; Diabetes Mellitus; Pulmonary Disease, Chronic Obstructive Mice homozygous for a targeted null mutation are viable and fertile; however, mutant erythrocytes had a reduced percentage of O-linked glycoproteins in the membranes, and were sensitive to hypoosmotic stress. Cell surface interactions at the vascular wall GO:0007016;cytoskeletal anchoring at plasma membrane;IEA|GO:0008150;biological_process;ND|GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA|GO:0047484;regulation of response to osmotic stress;IEA|GO:0050900;leukocyte migration;TAS GO:0005575;cellular_component;ND|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GYPA https://www.ncbi.nlm.nih.gov/omim/?term=111300 http://www.informatics.jax.org/searchtool/Search.do?query=GYPA&submit=Quick%0D%12645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GYPA rs6852276 0.397963 0 0 1 0 0 intergenic intergenic intergenic GYPA(dist=200095),HHIP-AS1(dist=302069) GYPA(dist=200095),HHIP-AS1(dist=302069) ENSG00000170180(dist=200095),ENSG00000261129(dist=165053) Na Na Na Na Na Na Het;A>G 305;7|9 Het;A>G 315;7|10 Hom;A>G 390;0|10 N N - 4 146246008 146246008 A G snp intergenic OTUD4 Otud4 ENSG00000164164 OTU deubiquitinase 4 chr4:146031990-146101313 Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010] GO:0006508;proteolysis;IEA|GO:0071108;protein K48-linked deubiquitination;IDA GO:0005575;cellular_component;ND GO:0003723;RNA binding;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTUD4 https://www.ncbi.nlm.nih.gov/omim/?term=611744 http://www.informatics.jax.org/searchtool/Search.do?query=OTUD4&submit=Quick%0D%11226ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTUD4 rs56154940 0.329673 0 0 1 0 0 intergenic intergenic intergenic OTUD4(dist=145176),SMAD1(dist=156943) OTUD4(dist=145176),SMAD1(dist=156943) ENSG00000240992(dist=54298),ENSG00000272727(dist=10407) Na Na Na Na Na Na Het;A>G 719;31|30 Het;A>G 804;32|40 Hom;A>G 2421;0|87 N N - 4 146296508 146296508 T TAA indel upstream RTN3P1 rs35922314 0 0 0 1 0 0 intergenic intergenic upstream OTUD4(dist=195676),SMAD1(dist=106443) OTUD4(dist=195676),SMAD1(dist=106443) ENSG00000251333 Na Na Na Na Na Na Het;+AA 428;27|22 Ref Hom;+AA 561;0|17 N N - 4 146296588 146296588 A G snp upstream RTN3P1 rs11100876 0.779353 0 0 1 0 0 intergenic intergenic upstream OTUD4(dist=195756),SMAD1(dist=106363) OTUD4(dist=195756),SMAD1(dist=106363) ENSG00000251333 Na Na Na Na Na Na Het;A>G 1432;56|65 Het;A>G 734;28|32 Hom;A>G 2233;0|78 N N - 4 146297387 146297387 C CAA indel ncRNA_exonic RTN3P1 rs3839154 0.683906 0 0 1 0 0 intergenic intergenic ncRNA_exonic OTUD4(dist=196555),SMAD1(dist=105564) OTUD4(dist=196555),SMAD1(dist=105564) ENSG00000251333 Na Na Na Na Na Na Het;+AA 1041;40|39 Het;+AA 822;36|29 Hom;+AA 2149;1|65 N N - 4 146297424 146297424 G C snp downstream RTN3P1 rs2044277 0.735823 0 0 1 0 0 intergenic intergenic downstream OTUD4(dist=196592),SMAD1(dist=105527) OTUD4(dist=196592),SMAD1(dist=105527) ENSG00000251333 Na Na Na Na Na Na Het;G>C 1082;38|39 Het;G>C 758;38|28 Hom;G>C 2430;0|80 N N - 4 146297853 146297853 C T snp downstream RTN3P1 rs6810511 0.684505 0 0 1 0 0 intergenic intergenic downstream OTUD4(dist=197021),SMAD1(dist=105098) OTUD4(dist=197021),SMAD1(dist=105098) ENSG00000251333 Na Na Na Na Na Na Het;C>T 1041;95|50 Het;C>T 1346;69|65 Hom;C>T 2868;0|106 N N - 4 146697205 146697205 A C snp intronic ZNF827 Zfp827 ENSG00000151612 zinc finger protein 827 chr4:146678779-146859787 gamma-Glutamyltransferase; Tobacco Use Disorder; Cholesterol, HDL; Celiac Disease|; Blood Pressure; Chronic renal failure|Kidney Failure, Chronic GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF827 https://www.uniprot.org/uniprot/Q17R98 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF827&submit=Quick%0D%9442ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF827 rs4835257 0.289736 0 0 1 0 0 intronic intronic intronic ZNF827 ZNF827 ENSG00000151612 Na Na Na Na Na Na Het;A>C 410;14|15 Het;A>C 402;3|14 Hom;A>C 825;0|24 N N - 4 151177827 151177831 TTCTC T indel UTR3 *428_*432delinsT DCLK2 Dclk2 ENSG00000170390 doublecortin like kinase 2 chr4:150999426-151178609 This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010] Heart Failure GO:0000226;microtubule cytoskeleton organization;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0021766;hippocampus development;IEA|GO:0021860;pyramidal neuron development;IEA|GO:0030182;neuron differentiation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:1900181;negative regulation of protein localization to nucleus;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCLK2 https://www.ncbi.nlm.nih.gov/omim/?term=613166 http://www.informatics.jax.org/searchtool/Search.do?query=DCLK2&submit=Quick%0D%12694ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLK2 rs10561576 0.410343 0 0 1 0 0 UTR3 UTR3 UTR3 DCLK2(NM_001040260:c.*428_*432delinsT,NM_001040261:c.*428_*432delinsT) DCLK2(uc003ilo.4:c.*428_*432delinsT,uc003ilm.4:c.*428_*432delinsT) ENSG00000170390(ENST00000296550:c.*428_*432delinsT,ENST00000411937:c.*721_*725delinsT,ENST00000302176:c.*428_*432delinsT) Na Na Na Na Na Na Het;-TCTC 1431;120|82 Het;-TCTC 3530;30|165 Hom;-TCTC 4037;16|178 N N - 4 151198823 151198823 T A snp intronic LRBA Lrba ENSG00000198589 LPS responsive beige-like anchor protein chr4:151185594-151936879 The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Body Mass Index; Tobacco Use Disorder; Lipoproteins, VLDL; Waist Circumference; Body Weight Mice homozygous for a knock-out allele exhibit increased numbers of myeloid-derived suppressor cells and regulatory T cells, abnormal NK cell physiology, impaired rejection of allogeneic, xenogeneic and missing self bone-marrow grafts, and resistance to acute graft vs host disease. GO:0008150;biological_process;ND GO:0005764;lysosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/LRBA https://hpo.jax.org/app/browse/search?q=LRBA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606453 http://www.informatics.jax.org/searchtool/Search.do?query=LRBA&submit=Quick%0D%16935ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRBA rs1870515 0.465455 0 0 1 0 0 intronic intronic intronic LRBA LRBA ENSG00000198589 Na Na Na Na Na Na Het;T>A 54;3|3 Ref Hom;T>A 48;0|3 N N - 4 152607662 152607662 G A snp intronic GATB Gatb rs12647616 0.452276 0 0 1 0 0 intronic intronic intronic GATB PET112 ENSG00000059691 Na Na Na Na Na Na Het;G>A 90;2|5 Ref Hom;G>A 108;0|5 N N - 4 154579616 154579616 G T snp ncRNA_intronic AC106865.1 rs2405437 0.811701 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIAA0922(dist=21754),TLR2(dist=25825) KIAA0922(dist=21754),TLR2(dist=25825) ENSG00000250771 Na Na Na Na Na Na Het;G>T 87;2|4 Ref Hom;G>T 183;0|8 N N - 4 1552132 1552132 A G snp ncRNA_exonic AC147067.2 rs6834908 0.639776 0 0 1 0 0 intergenic intergenic ncRNA_exonic NKX1-1(dist=151902),FAM53A(dist=89476) CRIPAK(dist=162350),AX748388(dist=23656) ENSG00000272783 Na Na Na Na Na Na Het;A>G 52;1|3 Ref Hom;A>G 89;0|4 N N - 4 155718171 155718171 A AT indel intronic RBM46 Rbm46 ENSG00000151962 RNA binding motif protein 46 chr4:155702365-155749965 Diabetic Nephropathies; Apolipoprotein A-I; Cholesterol, HDL; Iron; Albuminuria GO:0001829;trophectodermal cell differentiation;IEA|GO:0048255;mRNA stabilization;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RBM46 https://www.uniprot.org/uniprot/Q8TBY0 http://www.informatics.jax.org/searchtool/Search.do?query=RBM46&submit=Quick%0D%9493ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM46 rs533910583 0.391374 0 0 1 0 0 intronic intronic intronic RBM46 RBM46 ENSG00000151962 Na Na Na Na Na Na Het;+T 461;4|24 Het;+T 418;8|22 Hom;+T 699;2|32 N N - 4 156835802 156835802 A G snp intronic TDO2 Tdo2 ENSG00000262635 tryptophan 2,3-dioxygenase chr4:156775890-156841558 This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012] Tourette syndrome; attention deficit disorder conduct disorder oppositional defiant disorder; speech perception in dyslexia; schizophrenia | bipolar disorder Mice homozygous for a knock-out allele exhibit increased plasma and brain levels of tryptophan, increased serotonin levels in the brain, decreased anxiety-related behavior, increased neuronal precursor proliferation and accelerated neurogenesis in the granule cell layer of the olfactory bulb. Tryptophan catabolism GO:0006569;tryptophan catabolic process;TAS|GO:0019441;tryptophan catabolic process to kynurenine;IEA|GO:0019442;tryptophan catabolic process to acetyl-CoA;IBA|GO:0051289;protein homotetramerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005829;cytosol;TAS GO:0004833;tryptophan 2,3-dioxygenase activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0020037;heme binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TDO2 https://www.uniprot.org/uniprot/P48775 https://www.ncbi.nlm.nih.gov/omim/?term=191070 http://www.informatics.jax.org/searchtool/Search.do?query=TDO2&submit=Quick%0D%20502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TDO2 rs13152449 0.105032 0 0 1 0 0 intronic intronic intronic TDO2 TDO2 ENSG00000151790 Na Na Na Na Na Na Het;A>G 40;3|2 Het;A>G 121;2|4 Hom;A>G 175;0|5 N N - 4 15733159 15733159 A G snp ncRNA_exonic AC114744.1 rs4435745 0.186302 0 0 1 0 0 intronic intronic ncRNA_exonic BST1 BST1 ENSG00000214846 Na Na Na Na Na Na Het;A>G 56;1|4 Ref Hom;A>G 71;0|4 N N - 4 158842552 158842552 A G snp intergenic LOC340017 rs6536287 0.695487 0 0 1 0 0 intergenic intergenic intergenic LOC340017(dist=345249),FAM198B(dist=203180) LOC340017(dist=345249),FAM198B(dist=203180) ENSG00000249627(dist=105920),ENSG00000250475(dist=47012) Na Na Na Na Na Na Het;A>G 87;2|3 Ref Hom;A>G 217;0|6 N N - 4 160387437 160387437 G A snp intergenic RAPGEF2 Rapgef2 ENSG00000109756 Rap guanine nucleotide exchange factor 2 chr4:160025330-160281321 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] Albumins; Lipoproteins, VLDL; Body Height; Bilirubin; Osteoporosis; Hemoglobins; Angiography; HIV-1; Varicose Veins Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0001568;blood vessel development;ISS|GO:0001764;neuron migration;ISS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0019933;cAMP-mediated signaling;IDA|GO:0021591;ventricular system development;ISS|GO:0021884;forebrain neuron development;ISS|GO:0030033;microvillus assembly;IGI|GO:0030154;cell differentiation;IEA|GO:0031175;neuron projection development;IDA|GO:0031547;brain-derived neurotrophic factor receptor signaling pathway;ISS|GO:0032092;positive regulation of protein binding;ISS|GO:0032486;Rap protein signal transduction;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038180;nerve growth factor signaling pathway;ISS|GO:0042127;regulation of cell proliferation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048022;negative regulation of melanin biosynthetic process;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0050774;negative regulation of dendrite morphogenesis;IDA|GO:0061028;establishment of endothelial barrier;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071320;cellular response to cAMP;IDA|GO:0071321;cellular response to cGMP;IDA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA|GO:0072659;protein localization to plasma membrane;IMP|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901888;regulation of cell junction assembly;IMP|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IDA|GO:2000670;positive regulation of dendritic cell apoptotic process;IDA|GO:2001214;positive regulation of vasculogenesis;ISS|GO:2001224;positive regulation of neuron migration;ISS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;ISS|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;IDA|GO:0043005;neuron projection;ISS|GO:0043025;neuronal cell body;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;ISS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017034;Rap guanyl-nucleotide exchange factor activity;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0030165;PDZ domain binding;IDA|GO:0030552;cAMP binding;IDA|GO:0031697;beta-1 adrenergic receptor binding;IDA|GO:0050699;WW domain binding;IDA|GO:0070300;phosphatidic acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF2 https://www.uniprot.org/uniprot/Q9Y4G8 https://www.ncbi.nlm.nih.gov/omim/?term=609530 http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF2&submit=Quick%0D%3880ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF2 rs6854117 0.23103 0 0 1 0 0 intergenic intergenic intergenic RAPGEF2(dist=106136),FSTL5(dist=1917607) RAPGEF2(dist=106136),FSTL5(dist=1917607) ENSG00000250180(dist=65039),ENSG00000251979(dist=40610) Na Na Na Na Na Na Het;G>A 56;1|4 Ref Hom;G>A 71;0|4 N N - 4 161129446 161129446 A G snp intergenic RAPGEF2 Rapgef2 ENSG00000109756 Rap guanine nucleotide exchange factor 2 chr4:160025330-160281321 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] Albumins; Lipoproteins, VLDL; Body Height; Bilirubin; Osteoporosis; Hemoglobins; Angiography; HIV-1; Varicose Veins Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0001568;blood vessel development;ISS|GO:0001764;neuron migration;ISS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007218;neuropeptide signaling pathway;IDA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0019933;cAMP-mediated signaling;IDA|GO:0021591;ventricular system development;ISS|GO:0021884;forebrain neuron development;ISS|GO:0030033;microvillus assembly;IGI|GO:0030154;cell differentiation;IEA|GO:0031175;neuron projection development;IDA|GO:0031547;brain-derived neurotrophic factor receptor signaling pathway;ISS|GO:0032092;positive regulation of protein binding;ISS|GO:0032486;Rap protein signal transduction;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038180;nerve growth factor signaling pathway;ISS|GO:0042127;regulation of cell proliferation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0048022;negative regulation of melanin biosynthetic process;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0050774;negative regulation of dendrite morphogenesis;IDA|GO:0061028;establishment of endothelial barrier;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071320;cellular response to cAMP;IDA|GO:0071321;cellular response to cGMP;IDA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA|GO:0072659;protein localization to plasma membrane;IMP|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901888;regulation of cell junction assembly;IMP|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2000481;positive regulation of cAMP-dependent protein kinase activity;IDA|GO:2000670;positive regulation of dendritic cell apoptotic process;IDA|GO:2001214;positive regulation of vasculogenesis;ISS|GO:2001224;positive regulation of neuron migration;ISS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0005911;cell-cell junction;ISS|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030139;endocytic vesicle;IDA|GO:0043005;neuron projection;ISS|GO:0043025;neuronal cell body;ISS|GO:0043234;protein complex;ISS|GO:0045202;synapse;ISS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0004871;signal transducer activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IEA|GO:0005509;calcium ion binding;NAS|GO:0005515;protein binding;IPI|GO:0017034;Rap guanyl-nucleotide exchange factor activity;IEA|GO:0019992;diacylglycerol binding;NAS|GO:0030165;PDZ domain binding;IDA|GO:0030552;cAMP binding;IDA|GO:0031697;beta-1 adrenergic receptor binding;IDA|GO:0050699;WW domain binding;IDA|GO:0070300;phosphatidic acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF2 https://www.uniprot.org/uniprot/Q9Y4G8 https://www.ncbi.nlm.nih.gov/omim/?term=609530 http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF2&submit=Quick%0D%3880ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF2 rs1495613 0.61262 0 0 1 0 0 intergenic intergenic intergenic RAPGEF2(dist=848145),FSTL5(dist=1175598) RAPGEF2(dist=848145),FSTL5(dist=1175598) ENSG00000250488(dist=430510),ENSG00000250997(dist=313535) Na Na Na Na Na Na Het;A>G 120;3|4 Ref Hom;A>G 137;0|4 N N - 4 169769240 169769240 A C snp intronic PALLD Palld ENSG00000129116 palladin, cytoskeletal associated protein chr4:169418217-169849608 This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/PALLD https://www.uniprot.org/uniprot/Q8WX93 https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608092 http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD rs11724696 0.322684 0 0 1 0 0 intronic intronic intronic PALLD PALLD ENSG00000129116 Na Na Na Na Na Na Het;A>C 96;2|6 Ref Hom;A>C 113;0|6 N N - 4 169843042 169843042 A T snp intronic PALLD Palld ENSG00000129116 palladin, cytoskeletal associated protein chr4:169418217-169849608 This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/PALLD https://www.uniprot.org/uniprot/Q8WX93 https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608092 http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD rs17054576 0.138179 0 0 1 0 0 intronic intronic intronic PALLD PALLD ENSG00000129116,ENSG00000145439 Na Na Na Na Na Na Het;A>T 130;8|5 Ref Hom;A>T 121;0|4 N N - 4 180181064 180181064 G T snp intergenic LINC01098 rs6858356 0.470447 0 0 1 0 0 intergenic intergenic intergenic LINC01098(dist=1269160),LINC00290(dist=1804179) LOC285501(dist=1269160),Mir_544(dist=168663) ENSG00000250839(dist=190316),ENSG00000250993(dist=129224) Na Na Na Na Na Na Het;G>T 48;1|3 Ref Hom;G>T 71;0|4 N N - 4 1805296 1805296 G A snp intronic FGFR3 Fgfr3 ENSG00000068078 fibroblast growth factor receptor 3 chr4:1795034-1810599 This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009] Neoplasm Recurrence, Local|Urinary Bladder Neoplasms; Cleft Lip|Cleft Palate; craniosynostosis; Hypertension; prostate cancer; Bone Mineral Density; Alzheimer's disease ; bladder cancer; multiple myeloma; Pancreatic Neoplasms; Urinary Bladder Neoplasms; achondroplasia; smoking; Carcinoma, Squamous Cell|Cheilitis|Lip Neoplasms; Sleep Apnea, Obstructive; null; Achondroplasia; thanatophoric dysplasia; Carcinoma|Neoplasm Invasiveness|Urinary Bladder Neoplasms; Achondroplasia|Musculoskeletal Abnormalities|Osteochondrodysplasias|Thanatophoric Dysplasia; cutaneous squamous cell carcinoma; Carcinoma, Transitional Cell|Kidney Neoplasms|Neoplasm Invasiveness|Ureteral Neoplasms|Urinary Bladder Neoplasms; Chromosome Aberrations|Chromosome abnormality|Craniosynostoses|Craniosynostosis|Genetic Diseases, Inborn Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear. Signaling by FGFR3 point mutants in cancer GO:0000165;MAPK cascade;TAS|GO:0001501;skeletal system development;IEA|GO:0001958;endochondral ossification;TAS|GO:0002062;chondrocyte differentiation;TAS|GO:0003416;endochondral bone growth;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007259;JAK-STAT cascade;TAS|GO:0007267;cell-cell signaling;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IEA|GO:0010518;positive regulation of phospholipase activity;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030282;bone mineralization;ISS|GO:0035988;chondrocyte proliferation;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048640;negative regulation of developmental growth;ISS|GO:0060349;bone morphogenesis;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0070977;bone maturation;ISS|GO:1902178;fibroblast growth factor receptor apoptotic signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005925;focal adhesion;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030133;transport vesicle;IDA|GO:0031410;cytoplasmic vesicle;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005007;fibroblast growth factor-activated receptor activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0017134;fibroblast growth factor binding;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FGFR3 https://www.uniprot.org/uniprot/P22607 https://hpo.jax.org/app/browse/search?q=FGFR3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=134934 http://www.informatics.jax.org/searchtool/Search.do?query=FGFR3&submit=Quick%0D%1274ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFR3 rs3135883 0.92492 0 0 1 0 0 intronic intronic intronic FGFR3 FGFR3 ENSG00000068078 Na Na Na Na Na Na Het;G>A 86;11|5 Het;G>A 148;3|6 Hom;G>A 438;0|13 N N - 4 183650026 183650027 GA G indel intronic TENM3 Tenm3 ENSG00000218336 teneurin transmembrane protein 3 chr4:183065140-183724177 This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015] Aorta; Tobacco Use Disorder; Respiratory Function Tests; Intra-Abdominal Fat; Myocardial Infarction; Eosinophils; Iron Mice homozygous for a null mutation display abnormal ipsilateral retinal ganglion cell projections and impaired performance in visually mediated behavioral tasks. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0010976;positive regulation of neuron projection development;ISS|GO:0030154;cell differentiation;IEA|GO:0048593;camera-type eye morphogenesis;IMP|GO:0048666;neuron development;IEA|GO:0097264;self proteolysis;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/TENM3 https://hpo.jax.org/app/browse/search?q=TENM3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610083 http://www.informatics.jax.org/searchtool/Search.do?query=TENM3&submit=Quick%0D%18378ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM3 rs5864796 0 0 0 1 0 0 intronic intronic intronic TENM3 TENM3 ENSG00000218336 Na Na Na Na Na Na Het;-A 396;5|24 Het;-A 356;3|21 Hom;-A 354;2|19 N N - 4 183950214 183950214 G A snp ncRNA_exonic AC019193.1 rs2714535 0.403954 0 0 1 0 0 intergenic intergenic ncRNA_exonic DCTD(dist=111584),FAM92A1P2(dist=8604) DCTD(dist=111584),FAM92A1P2(dist=8604) ENSG00000250636 Na Na Na Na Na Na Het;G>A 50;10|3 Ref Hom;G>A 93;0|4 N N - 4 185652224 185652225 AC A indel intronic CENPU Cenpu ENSG00000151725 centromere protein U chr4:185615772-185655287 The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] Mucocutaneous Lymph Node Syndrome Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E9.5, small embryo size and thickened visceral endoderm. Mitotic Prometaphase GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0016032;viral process;IEA|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043009;chordate embryonic development;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CENPU https://www.uniprot.org/uniprot/Q71F23 https://www.ncbi.nlm.nih.gov/omim/?term=611511 http://www.informatics.jax.org/searchtool/Search.do?query=CENPU&submit=Quick%0D%9463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPU rs11362720 0.570088 0 0 1 0 0 intronic intronic intronic CENPU MLF1IP ENSG00000151725 Na Na Na Na Na Na Het;-C 109;6|7 Het;-C 95;1|4 Hom;-C 365;0|9 N N - 4 186070432 186070432 T C snp UTR3 *2307T>C SLC25A4 Slc25a4 ENSG00000151729 solute carrier family 25 member 4 chr4:186064395-186071536 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013] Ophthalmoplegia, Chronic Progressive External; ophthalmoplegia Parkinson's disease; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null mice exhibit a defect in mitochondrial energy metabolism and develop mitochondrial myopathy and hypertrophic cardiomyopathy, metabolic acidosis, and a severe exercise intolerance. Regulation of insulin secretion GO:0000002;mitochondrial genome maintenance;TAS|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0006810;transport;TAS|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0015853;adenine transport;IEA|GO:0015866;ADP transport;IMP|GO:0015867;ATP transport;IEA|GO:0016032;viral process;IEA|GO:0046902;regulation of mitochondrial membrane permeability;IBA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0060546;negative regulation of necroptotic process;IMP GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043209;myelin sheath;IEA GO:0005215;transporter activity;IEA|GO:0005471;ATP:ADP antiporter activity;IBA|GO:0005515;protein binding;IPI|GO:0015207;adenine transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC25A4 https://www.uniprot.org/uniprot/P12235 https://hpo.jax.org/app/browse/search?q=SLC25A4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=103220 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A4&submit=Quick%0D%9465ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A4 rs2046535 0.46865 0 0 1 0 0 UTR3 UTR3 UTR3 SLC25A4(NM_001151:c.*2307T>C) SLC25A4(uc003ixd.3:c.*2307T>C) ENSG00000151729(ENST00000281456:c.*2307T>C) Na Na Na Na Na Na Het;T>C 419;10|15 Ref Hom;T>C 434;1|17 N N - 4 18856479 18856479 C T snp intergenic LCORL Lcorl ENSG00000178177 ligand dependent nuclear receptor corepressor like chr4:17842822-18023499 This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] height; Height; skeletal frame size; Tobacco Use Disorder GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LCORL https://www.ncbi.nlm.nih.gov/omim/?term=611799 http://www.informatics.jax.org/searchtool/Search.do?query=LCORL&submit=Quick%0D%14146ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCORL rs1400939 0.342652 0 0 1 0 0 intergenic intergenic intergenic LCORL(dist=832996),SLIT2(dist=1398708) LCORL(dist=832996),SLIT2(dist=1398756) ENSG00000251048(dist=365348),ENSG00000248238(dist=317479) Na Na Na Na Na Na Het;C>T 218;4|8 Ref Hom;C>T 169;0|7 N N - 4 189923138 189923138 A C snp ncRNA_exonic AC122138.1 rs11132594 0.304313 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01060(dist=400076),LINC01262(dist=657622) LOC401164(dist=400076),BC087857(dist=861476) ENSG00000250024 Na Na Na Na Na Na Het;A>C 465;32|25 Het;A>C 696;12|30 Hom;A>C 1040;2|43 N N - 4 190568677 190568677 G A snp intergenic LINC01060 rs2122742 0 0 0 1 0 0 intergenic intergenic intergenic LINC01060(dist=1045615),LINC01262(dist=12083) LOC401164(dist=1045615),BC087857(dist=215937) ENSG00000205100(dist=172331),ENSG00000250739(dist=12082) Na Na Na Na Na Na Het;G>A 503;5|13 Het;G>A 638;2|16 Hom;G>A 422;0|10 N N - 4 190568680 190568680 G A snp intergenic LINC01060 rs2122741 0 0 0 1 0 0 intergenic intergenic intergenic LINC01060(dist=1045618),LINC01262(dist=12080) LOC401164(dist=1045618),BC087857(dist=215934) ENSG00000205100(dist=172334),ENSG00000250739(dist=12079) Na Na Na Na Na Na Het;G>A 503;5|13 Het;G>A 638;2|16 Hom;G>A 422;0|10 N N - 4 190599577 190599577 C T snp intergenic LINC01262 rs73026093 0 0 0 1 0 0 intergenic intergenic intergenic LINC01262(dist=16937),FRG1(dist=262397) LOC401164(dist=1076515),BC087857(dist=185037) ENSG00000250739(dist=16937),ENSG00000272566(dist=25458) Na Na Na Na Na Na Het;C>T 274;1|8 Het;C>T 149;3|5 Hom;C>T 76;0|3 N N - 4 190600609 190600609 A G snp intergenic LINC01262 rs72718636 0 0 0 1 0 0 intergenic intergenic intergenic LINC01262(dist=17969),FRG1(dist=261365) LOC401164(dist=1077547),BC087857(dist=184005) ENSG00000250739(dist=17969),ENSG00000272566(dist=24426) Na Na Na Na Na Na Het;A>G 179;1|5 Ref Hom;A>G 152;0|4 N N - 4 190600623 190600623 G A snp intergenic LINC01262 rs72718637 0 0 0 1 0 0 intergenic intergenic intergenic LINC01262(dist=17983),FRG1(dist=261351) LOC401164(dist=1077561),BC087857(dist=183991) ENSG00000250739(dist=17983),ENSG00000272566(dist=24412) Na Na Na Na Na Na Het;G>A 263;1|7 Ref Hom;G>A 152;0|4 N N - 4 190600995 190600995 A C snp intergenic LINC01262 rs9985753 0 0 0 1 0 0 intergenic intergenic intergenic LINC01262(dist=18355),FRG1(dist=260979) LOC401164(dist=1077933),BC087857(dist=183619) ENSG00000250739(dist=18355),ENSG00000272566(dist=24040) Na Na Na Na Na Na Het;A>C 448;5|14 Het;A>C 371;5|12 Hom;A>C 225;0|7 N N - 4 190701407 190701407 C T snp downstream AF250324.1 rs3964853 0.546725 0 0 1 0 0 intergenic intergenic downstream LINC01262(dist=118767),FRG1(dist=160567) LOC401164(dist=1178345),BC087857(dist=83207) ENSG00000245685 Na Na Na Na Na Na Het;C>T 76;4|4 Het;C>T 37;2|2 Hom;C>T 333;0|13 N N - 4 190802915 190802915 T C snp ncRNA_exonic LINC01596 rs1056197 0.438698 0 0 1 0 0 intergenic intronic ncRNA_exonic LINC01262(dist=220275),FRG1(dist=59059) BC087857 ENSG00000250666 Na Na Na Na Na Na Het;T>C 1437;54|60 Het;T>C 1119;50|51 Hom;T>C 3193;1|120 N N - 4 1961137 1961137 G A snp intronic WHSC1 Whsc1 rs474235 0.685304 0 0 1 0 0 intronic intronic intronic WHSC1 WHSC1 ENSG00000109685 Na Na Na Na Na Na Het;G>A 376;12|14 Het;G>A 273;8|11 Hom;G>A 502;0|16 N N - 4 21583806 21583806 T G snp ncRNA_intronic AC096576.3 rs73252269 0.0802716 0 0 1 0 0 intronic intronic ncRNA_intronic KCNIP4 KCNIP4 ENSG00000250092 Na Na Na Na Na Na Het;T>G 1181;32|31 Het;T>G 3471;70|89 Hom;T>G 6847;1|155 N N - 4 21583810 21583810 A G snp ncRNA_intronic AC096576.3 rs76901827 0.0802716 0 0 1 0 0 intronic intronic ncRNA_intronic KCNIP4 KCNIP4 ENSG00000250092 Na Na Na Na Na Na Het;A>G 1211;34|33 Het;A>G 3474;69|90 Hom;A>G 6876;1|157 N N - 4 21583944 21583944 T C snp ncRNA_exonic AC096576.3 rs41500944 0.0802716 0 0 1 0 0 intronic intronic ncRNA_exonic KCNIP4 KCNIP4 ENSG00000250092 Na Na Na Na Na Na Het;T>C 1301;48|57 Het;T>C 2131;104|97 Hom;T>C 5437;1|190 N N - 4 21583994 21583994 G A snp ncRNA_exonic AC096576.3 rs41397149 0.0802716 0 0 1 0 0 intronic intronic ncRNA_exonic KCNIP4 KCNIP4 ENSG00000250092 Na Na Na Na Na Na Het;G>A 1111;37|43 Het;G>A 1695;101|84 Hom;G>A 4358;3|168 N N - 4 21871510 21871510 G A snp intronic KCNIP4 Kcnip4 ENSG00000281758 potassium voltage-gated channel interacting protein 4 chr4:20730239-21950422 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis; Hypertrophy, Left Ventricular; Brain; Stroke; Exercise Test; Natriuretic Peptide, Brain; Tobacco Use Disorder; Breath Tests; Body Mass Index; Cholesterol, LDL; Attention Deficit Disorder with Hyperactivity; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lipids; Triglycerides; Body Weight Changes; Suicidal Ideation; Hemoglobin A, Glycosylated; Erythrocytes; Blood Pressure Determination; Cholesterol; Brain Ischemia|Stroke; Celiac Disease|; Echocardiography http://www.genecards.org/index.php?path=/Search/keyword/KCNIP4 https://www.ncbi.nlm.nih.gov/omim/?term=608182 http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP4&submit=Quick%0D%22333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP4 rs17569369 0.3127 0 0 1 0 0 intronic intronic intronic KCNIP4 KCNIP4 ENSG00000185774 Na Na Na Na Na Na Het;G>A 238;1|8 Ref Hom;G>A 271;0|9 N N - 4 2451694 2451694 T C snp nonsynonymous SNV T757C C253R polar,hydrophobic,neutral polar,hydrophilic,charged(+) LOC402160 rs3108494 0.930112 0 0.8756 1 0 0 exonic exonic ncRNA_exonic CFAP99 LOC402160 ENSG00000206113 nonsynonymous SNV nonsynonymous SNV Na CFAP99:NM_001193282:exon8:c.T757C:p.C253R, LOC402160:uc021xkr.1:exon8:c.T757C:p.C253R, Na Het;T>C 1247;51|59 Het;T>C 755;38|37 Hom;T>C 2108;0|78 N N - 4 24959875 24959875 T C snp intronic CCDC149 Ccdc149 ENSG00000181982 coiled-coil domain containing 149 chr4:24807739-24981826 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/CCDC149 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC149&submit=Quick%0D%14700ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC149 rs28704724 0.404553 0 0 1 0 0 intronic intronic intronic CCDC149 CCDC149 ENSG00000181982 Na Na Na Na Na Na Het;T>C 221;12|10 Het;T>C 217;12|10 Hom;T>C 623;0|22 N N - 4 24967772 24967772 C T snp intronic CCDC149 Ccdc149 ENSG00000181982 coiled-coil domain containing 149 chr4:24807739-24981826 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/CCDC149 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC149&submit=Quick%0D%14700ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC149 rs4697511 0.386382 0 0 1 0 0 intronic intronic intronic CCDC149 CCDC149 ENSG00000181982 Na Na Na Na Na Na Het;C>T 151;8|8 Het;C>T 186;3|9 Hom;C>T 267;0|10 N N - 4 2833966 2833966 G A snp intronic SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs231396 0.34385 0 0 1 0 0 intronic intronic intronic SH3BP2 SH3BP2 ENSG00000087266 Na Na Na Na Na Na Het;G>A 175;4|6 Ref Hom;G>A 101;0|4 N N - 4 2836195 2836195 C A snp UTR3 *634C>A SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs73189445 0.301518 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*634C>A,NM_001145855:c.*634C>A,NM_001145856:c.*634C>A,NM_003023:c.*634C>A) SH3BP2(uc003gfi.4:c.*634C>A,uc011bvp.2:c.*634C>A,uc003gfj.4:c.*634C>A,uc003gfk.4:c.*634C>A,uc003gfl.4:c.*634C>A,uc003gfm.4:c.*634C>A) ENSG00000087266(ENST00000442312:c.*634C>A,ENST00000503393:c.*634C>A,ENST00000356331:c.*634C>A) Na Na Na Na Na Na Het;C>A 552;31|27 Het;C>A 476;29|22 Hom;C>A 1416;0|52 N N - 4 2836628 2836628 C T snp UTR3 *1067C>T SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs231394 0.551917 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*1067C>T,NM_001145855:c.*1067C>T,NM_001145856:c.*1067C>T,NM_003023:c.*1067C>T) SH3BP2(uc003gfi.4:c.*1067C>T,uc011bvp.2:c.*1067C>T,uc003gfj.4:c.*1067C>T,uc003gfk.4:c.*1067C>T,uc003gfl.4:c.*1067C>T,uc003gfm.4:c.*1067C>T) ENSG00000087266(ENST00000442312:c.*1067C>T,ENST00000503393:c.*1067C>T,ENST00000356331:c.*1067C>T) Na Na Na Na Na Na Het;C>T 808;26|32 Het;C>T 654;30|31 Hom;C>T 1832;0|72 N N - 4 2837763 2837763 G C snp UTR3 *2202G>C SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs1263416 0.560104 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*2202G>C,NM_001145855:c.*2202G>C,NM_001145856:c.*2202G>C,NM_003023:c.*2202G>C) SH3BP2(uc003gfi.4:c.*2202G>C,uc011bvp.2:c.*2202G>C,uc003gfj.4:c.*2202G>C,uc003gfk.4:c.*2202G>C,uc003gfl.4:c.*2202G>C,uc003gfm.4:c.*2202G>C) ENSG00000087266(ENST00000442312:c.*2202G>C,ENST00000503393:c.*2202G>C,ENST00000356331:c.*2202G>C) Na Na Na Na Na Na Het;G>C 842;38|35 Het;G>C 781;39|36 Hom;G>C 1538;0|51 N N - 4 2839438 2839438 G C snp UTR3 *3877G>C SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs735794 0.33766 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*3877G>C,NM_001145855:c.*3877G>C,NM_001145856:c.*3877G>C,NM_003023:c.*3877G>C) SH3BP2(uc003gfi.4:c.*3877G>C,uc011bvp.2:c.*3877G>C,uc003gfj.4:c.*3877G>C,uc003gfk.4:c.*3877G>C,uc003gfl.4:c.*3877G>C,uc003gfm.4:c.*3877G>C) ENSG00000087266(ENST00000442312:c.*3877G>C,ENST00000503393:c.*3877G>C,ENST00000356331:c.*3877G>C) Na Na Na Na Na Na Het;G>C 1768;80|79 Het;G>C 1174;60|52 Hom;G>C 3860;2|133 N N - 4 2839659 2839659 G A snp UTR3 *4098G>A SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs9715869 0.573482 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*4098G>A,NM_001145855:c.*4098G>A,NM_001145856:c.*4098G>A,NM_003023:c.*4098G>A) SH3BP2(uc003gfi.4:c.*4098G>A,uc011bvp.2:c.*4098G>A,uc003gfj.4:c.*4098G>A,uc003gfk.4:c.*4098G>A,uc003gfl.4:c.*4098G>A,uc003gfm.4:c.*4098G>A) ENSG00000087266(ENST00000442312:c.*4098G>A,ENST00000503393:c.*4098G>A,ENST00000356331:c.*4098G>A) Na Na Na Na Na Na Het;G>A 1312;68|56 Het;G>A 1266;41|56 Hom;G>A 3018;2|110 N N - 4 2841240 2841240 T C snp UTR3 *5679T>C SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs4690002 0.652756 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*5679T>C,NM_001145855:c.*5679T>C,NM_001145856:c.*5679T>C,NM_003023:c.*5679T>C) SH3BP2(uc003gfi.4:c.*5679T>C,uc011bvp.2:c.*5679T>C,uc003gfj.4:c.*5679T>C,uc003gfk.4:c.*5679T>C,uc003gfl.4:c.*5679T>C,uc003gfm.4:c.*5679T>C) ENSG00000087266(ENST00000442312:c.*5679T>C,ENST00000503393:c.*5679T>C,ENST00000356331:c.*5679T>C) Na Na Na Na Na Na Het;T>C 1360;51|61 Het;T>C 846;66|42 Hom;T>C 2185;0|86 N N - 4 2842717 2842718 AT A indel UTR3 *7156_*7157delinsA SH3BP2 Sh3bp2 ENSG00000087266 SH3 domain binding protein 2 chr4:2794750-2842825 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Tobacco Use Disorder Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BP2 https://www.uniprot.org/uniprot/P78314 https://hpo.jax.org/app/browse/search?q=SH3BP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602104 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP2&submit=Quick%0D%1965ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP2 rs568755494 0.439497 0 0 1 0 0 UTR3 UTR3 UTR3 SH3BP2(NM_001122681:c.*7156_*7157delinsA,NM_001145855:c.*7156_*7157delinsA,NM_001145856:c.*7156_*7157delinsA,NM_003023:c.*7156_*7157delinsA) SH3BP2(uc003gfi.4:c.*7156_*7157delinsA,uc011bvp.2:c.*7156_*7157delinsA,uc003gfj.4:c.*7156_*7157delinsA,uc003gfk.4:c.*7156_*7157delinsA,uc003gfl.4:c.*7156_*7157delinsA,uc003gfm.4:c.*7156_*7157delinsA) ENSG00000087266(ENST00000442312:c.*7156_*7157delinsA,ENST00000503393:c.*7156_*7157delinsA,ENST00000356331:c.*7156_*7157delinsA) Na Na Na Na Na Na Het;-T 1549;71|82 Het;-T 1195;79|66 Hom;-T 3876;9|168 N N - 4 3040279 3040279 G GA indel intronic GRK4 Grk4 ENSG00000125388 G protein-coupled receptor kinase 4 chr4:2965335-3042474 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Hyperparathyroidism, Secondary; Pre-Eclampsia; bronchodilator response; blood pressure, arterial; Hypertension, Renal; Chronic renal failure|Kidney Failure, Chronic; hypertension; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; sensitivity to beta(1)-adrenergic blockade Mice heterozygous for a knock-out allele are viable, fertile and overtly normal. Inactivation, recovery and regulation of the phototransduction cascade GO:0002029;desensitization of G-protein coupled receptor protein signaling pathway;IEA|GO:0002031;G-protein coupled receptor internalization;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0031623;receptor internalization;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004703;G-protein coupled receptor kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050254;rhodopsin kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GRK4 https://www.uniprot.org/uniprot/P32298 https://www.ncbi.nlm.nih.gov/omim/?term=137026 http://www.informatics.jax.org/searchtool/Search.do?query=GRK4&submit=Quick%0D%5768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRK4 rs11451355 0.455871 0.3827 0.4365 1 0 0 intronic intronic intronic GRK4 GRK4 ENSG00000125388 Na Na Na Na Na Na Het;+A 393;4|20 Het;+A 195;8|14 Hom;+A 463;5|20 N N - 4 33240041 33240041 G A snp ncRNA_exonic AC093878.1 rs2687463 0.640775 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC102723828(dist=1083013),LOC101928622(dist=657920) NONE(dist=NONE),AK093205(dist=653513) ENSG00000249452 Na Na Na Na Na Na Het;G>A 785;15|30 Het;G>A 286;12|11 Hom;G>A 820;0|31 N N - 4 33240148 33240148 T C snp ncRNA_exonic AC093878.1 rs2586012 0.660942 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC102723828(dist=1083120),LOC101928622(dist=657813) NONE(dist=NONE),AK093205(dist=653406) ENSG00000249452 Na Na Na Na Na Na Het;T>C 825;27|36 Het;T>C 548;19|26 Hom;T>C 1489;0|56 N N - 4 3443917 3443917 G C snp intronic HGFAC Hgfac ENSG00000109758 HGF activator chr4:3443614-3451211 This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Hyperparathyroidism, Secondary Homozygous null mice display impaired intestinal regeneration and increased mortality after intestinal injury. MET Receptor Activation GO:0006508;proteolysis;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS GO:0004252;serine-type endopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HGFAC https://www.uniprot.org/uniprot/Q04756 https://www.ncbi.nlm.nih.gov/omim/?term=604552 http://www.informatics.jax.org/searchtool/Search.do?query=HGFAC&submit=Quick%0D%3881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HGFAC rs10024987 0.108626 0 0 1 0 0 intronic intronic intronic HGFAC HGFAC ENSG00000109758 Na Na Na Na Na Na Het;G>C 303;14|14 Het;G>C 253;18|12 Hom;G>C 1079;0|26 N N - 4 3465073 3465073 G T snp UTR5 -30G>T DOK7 Dok7 ENSG00000175920 docking protein 7 chr4:3465033-3503200 The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] MYASTHENIC SYNDROME CONGENITAL 10 Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia. GO:0061098;positive regulation of protein tyrosine kinase activity;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA GO:0005158;insulin receptor binding;IEA|GO:0008289;lipid binding;IEA|GO:0019901;protein kinase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DOK7 https://hpo.jax.org/app/browse/search?q=DOK7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610285 http://www.informatics.jax.org/searchtool/Search.do?query=DOK7&submit=Quick%0D%13774ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK7 rs146168804 0.0880591 0.0695 0.1784 1 0 0 UTR5 UTR5 UTR5 DOK7(NM_173660:c.-30G>T,NM_001164673:c.-30G>T,NM_001301071:c.-30G>T) DOK7(uc003ghe.3:c.-30G>T,uc003ghd.3:c.-30G>T) ENSG00000175920(ENST00000389653:c.-30G>T,ENST00000340083:c.-30G>T,ENST00000507039:c.-30G>T) Na Na Na Na Na Na Het;G>T 600;27|30 Het;G>T 840;23|36 Hom;G>T 1770;0|67 N N - 4 3468914 3468914 A AC indel intronic DOK7 Dok7 ENSG00000175920 docking protein 7 chr4:3465033-3503200 The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] MYASTHENIC SYNDROME CONGENITAL 10 Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia. GO:0061098;positive regulation of protein tyrosine kinase activity;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA GO:0005158;insulin receptor binding;IEA|GO:0008289;lipid binding;IEA|GO:0019901;protein kinase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DOK7 https://hpo.jax.org/app/browse/search?q=DOK7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610285 http://www.informatics.jax.org/searchtool/Search.do?query=DOK7&submit=Quick%0D%13774ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK7 rs397740016 0 0 0 1 0 0 intronic intronic intronic DOK7 DOK7 ENSG00000175920 Na Na Na Na Na Na Het;+C 61;2|4 Ref Hom;+C 79;0|4 N N - 4 35481956 35481956 A G snp intergenic LOC101928622 rs4859304 0.341054 0 0 1 0 0 intergenic intergenic intergenic LOC101928622(dist=1440441),ARAP2(dist=585664) BC036345(dist=1440441),NONE(dist=NONE) ENSG00000238694(dist=513990),ENSG00000250416(dist=7478) Na Na Na Na Na Na Het;A>G 170;17|9 Het;A>G 634;14|30 Hom;A>G 1442;2|55 N N - 4 3599085 3599085 G A snp intergenic LINC00955 rs2344253 0 0 0 1 0 0 intergenic intergenic intergenic LINC00955(dist=6373),LOC100133461(dist=76235) LINC00955(dist=6373),LOC100133461(dist=76235) ENSG00000216560(dist=7354),ENSG00000250681(dist=35671) Na Na Na Na Na Na Het;G>A 48;1|3 Ref Hom;G>A 63;0|3 N N - 4 36130099 36130099 T TACACAC indel intronic ARAP2 Arap2 ENSG00000047365 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 chr4:35949843-36246131 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008] response to TNF antagonist treatment; Hemoglobin A, Glycosylated; von Willebrand Factor Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARAP2 https://www.uniprot.org/uniprot/Q8WZ64 https://www.ncbi.nlm.nih.gov/omim/?term=606645 http://www.informatics.jax.org/searchtool/Search.do?query=ARAP2&submit=Quick%0D%867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARAP2 rs61406580 0 0 0 1 0 0 intronic intronic intronic ARAP2 ARAP2 ENSG00000047365 Na Na Na Na Na Na Het;+ACACAC 390;6|9 Ref Hom;+ACACAC 476;0|12 N N - 4 3635174 3635174 T C snp ncRNA_intronic AL121796.1 rs79595403 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00955(dist=42462),LOC100133461(dist=40146) LINC00955(dist=42462),LOC100133461(dist=40146) ENSG00000250681 Na Na Na Na Na Na Het;T>C 44;4|2 Ref Hom;T>C 152;0|4 N N - 4 3635175 3635175 C T snp ncRNA_intronic AL121796.1 rs77498505 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00955(dist=42463),LOC100133461(dist=40145) LINC00955(dist=42463),LOC100133461(dist=40145) ENSG00000250681 Na Na Na Na Na Na Het;C>T 44;4|2 Ref Hom;C>T 152;0|4 N N - 4 3635183 3635183 G A snp ncRNA_intronic AL121796.1 rs78397373 0.000199681 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00955(dist=42471),LOC100133461(dist=40137) LINC00955(dist=42471),LOC100133461(dist=40137) ENSG00000250681 Na Na Na Na Na Na Het;G>A 44;4|2 Ref Hom;G>A 152;0|4 N N - 4 3635186 3635186 G C snp ncRNA_intronic AL121796.1 rs77039194 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC00955(dist=42474),LOC100133461(dist=40134) LINC00955(dist=42474),LOC100133461(dist=40134) ENSG00000250681 Na Na Na Na Na Na Het;G>C 44;4|2 Ref Hom;G>C 152;0|4 N N - 4 36443650 36443650 C T snp intergenic MIR1255B1 rs11729493 0.423922 0 0 1 0 0 intergenic intergenic intergenic MIR1255B1(dist=15600),MIR4801(dist=799882) DTHD1(dist=97243),MIR4801(dist=799882) ENSG00000251438(dist=49618),ENSG00000248215(dist=54509) Na Na Na Na Na Na Het;C>T 110;6|5 Het;C>T 119;2|5 Hom;C>T 184;0|8 N N - 4 36460271 36460271 A T snp intergenic MIR1255B1 rs7690708 0.411342 0 0 1 0 0 intergenic intergenic intergenic MIR1255B1(dist=32221),MIR4801(dist=783261) DTHD1(dist=113864),MIR4801(dist=783261) ENSG00000251438(dist=66239),ENSG00000248215(dist=37888) Na Na Na Na Na Na Het;A>T 327;3|13 Het;A>T 223;9|11 Hom;A>T 208;0|9 N N - 4 36460352 36460352 G A snp intergenic MIR1255B1 rs7665425 0.413339 0 0 1 0 0 intergenic intergenic intergenic MIR1255B1(dist=32302),MIR4801(dist=783180) DTHD1(dist=113945),MIR4801(dist=783180) ENSG00000251438(dist=66320),ENSG00000248215(dist=37807) Na Na Na Na Na Na Het;G>A 829;10|27 Het;G>A 322;18|18 Hom;G>A 1484;0|48 N N - 4 36509363 36509363 G A snp ncRNA_exonic AC125336.1 rs6531453 0.234026 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR1255B1(dist=81313),MIR4801(dist=734169) DTHD1(dist=162956),MIR4801(dist=734169) ENSG00000251588 Na Na Na Na Na Na Het;G>A 78;4|4 Het;G>A 159;8|9 Hom;G>A 337;0|14 N N - 4 36509434 36509434 A T snp ncRNA_exonic AC125336.1 rs6531454 0.272165 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR1255B1(dist=81384),MIR4801(dist=734098) DTHD1(dist=163027),MIR4801(dist=734098) ENSG00000251588 Na Na Na Na Na Na Het;A>T 47;1|3 Het;A>T 38;2|2 Hom;A>T 170;0|8 N N - 4 36595252 36595252 C T snp ncRNA_intronic AC079239.1 rs4833146 0.839257 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR1255B1(dist=167202),MIR4801(dist=648280) DTHD1(dist=248845),MIR4801(dist=648280) ENSG00000248215 Na Na Na Na Na Na Het;C>T 118;11|5 Het;C>T 102;4|4 Hom;C>T 613;0|18 N N - 4 37592674 37592674 T C snp UTR3 *52T>C C4orf19 0610040J01Rik ENSG00000154274 chromosome 4 open reading frame 19 chr4:37455563-37625117 GO:0005654;nucleoplasm;IDA|GO:0030054;cell junction;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C4orf19 https://www.uniprot.org/uniprot/Q8IY42 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf19&submit=Quick%0D%9754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf19 rs937941 0.494808 0.6313 0.6485 1 0 0 UTR3 UTR3 UTR3 C4orf19(NM_001104629:c.*52T>C,NM_018302:c.*52T>C),RELL1(NM_001085399:c.*169A>G) C4orf19(uc003gsw.4:c.*52T>C,uc003gsy.4:c.*52T>C),RELL1(uc003gsz.2:c.*169A>G) ENSG00000154274(ENST00000381980:c.*52T>C,ENST00000284437:c.*52T>C),ENSG00000181826(ENST00000314117:c.*169A>G) Na Na Na Na Na Na Het;T>C 224;12|11 Het;T>C 248;15|11 Hom;T>C 576;0|22 N N - 4 38189148 38189148 C T snp intergenic TBC1D1 Tbc1d1 ENSG00000065882 TBC1 domain family member 1 chr4:37892708-38140796 TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008] Cell Adhesion Molecules; obesity; suicide; Stroke; Body Weights and Measures; Tobacco Use Disorder; Body Weight; Carotid Stenosis; Type 2 Diabetes| edema | rosiglitazone Mice homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle. Translocation of GLUT4 to the plasma membrane GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0032880;regulation of protein localization;IEA|GO:0061024;membrane organization;TAS|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D1 https://www.uniprot.org/uniprot/Q86TI0 https://www.ncbi.nlm.nih.gov/omim/?term=609850 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D1&submit=Quick%0D%1195ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D1 rs17494937 0.385184 0 0 1 0 0 intergenic intergenic intergenic TBC1D1(dist=48352),LINC01258(dist=233135) TBC1D1(dist=48352),Mir_548(dist=51086) ENSG00000065882(dist=48354),ENSG00000221495(dist=51086) Na Na Na Na Na Na Het;C>T 60;6|3 Ref Hom;C>T 130;0|4 N N - 4 38626282 38626282 T C snp ncRNA_exonic KLF3-AS1 rs6531654 0.790935 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic KLF3-AS1 FLJ13197 ENSG00000231160 Na Na Na Na Na Na Het;T>C 3179;130|136 Het;T>C 1381;111|68 Hom;T>C 6549;2|237 N N - 4 39448542 39448542 C G snp synonymous SNV C2196G P732P hydrophobic,neutral hydrophobic,neutral KLB Klb ENSG00000134962 klotho beta chr4:39408473-39453156 longevity; Hypertension Homozygous null mice display increased bile acid synthesis and excretion, resistance to gallstone formation, and slightly decreased body weight. Mice homozygous for a knock-out allele or a conditional allele activated in adipose tissue exhibit resistanceto FGF21-induced metabolic disruptions. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0000165;MAPK cascade;TAS|GO:0005975;carbohydrate metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0090080;positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway;IEA|GO:1901657;glycosyl compound metabolic process;IBA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0017134;fibroblast growth factor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KLB https://www.uniprot.org/uniprot/Q86Z14 https://www.ncbi.nlm.nih.gov/omim/?term=611135 http://www.informatics.jax.org/searchtool/Search.do?query=KLB&submit=Quick%0D%7062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLB rs7685429 0.765176 0.7506 0.7650 1 0 0 exonic exonic exonic KLB KLB ENSG00000134962 synonymous SNV synonymous SNV unknown KLB:NM_175737:exon4:c.C2196G:p.P732P, KLB:uc003gua.3:exon4:c.C2196G:p.P732P,KLB:uc011byj.2:exon4:c.C2169G:p.P723P, UNKNOWN Het;C>G 3038;94|83 Het;C>G 1959;53|80 Hom;C>G 4461;0|154 N N - 4 39456392 39456392 G A snp ncRNA_intronic MIR1273H rs1463478 0.490216 0 0 1 0 0 ncRNA_intronic intronic intronic MIR1273H RPL9 ENSG00000163682 Na Na Na Na Na Na Het;G>A 284;14|12 Het;G>A 287;11|13 Hom;G>A 959;0|35 N N - 4 39457870 39457870 T TG indel UTR3 *40A>CA RPL9 Rpl9 ENSG00000163682 ribosomal protein L9 chr4:39455744-39460568 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002181;cytoplasmic translation;IBA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;TAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPL9 https://www.ncbi.nlm.nih.gov/omim/?term=603686 http://www.informatics.jax.org/searchtool/Search.do?query=RPL9&submit=Quick%0D%11054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL9 rs3216720 0.692093 0 0.7097 1 0 0 ncRNA_intronic UTR3 intronic MIR1273H RPL9(uc011byl.1:c.*40A>CA) ENSG00000163682 Na Na Na Na Na Na Het;+G 451;9|14 Het;+G 127;18|6 Hom;+G 604;0|15 N N - 4 39458051 39458051 A G snp synonymous SNV T366C Y122Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic RPL9 Rpl9 ENSG00000163682 ribosomal protein L9 chr4:39455744-39460568 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002181;cytoplasmic translation;IBA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;TAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPL9 https://www.ncbi.nlm.nih.gov/omim/?term=603686 http://www.informatics.jax.org/searchtool/Search.do?query=RPL9&submit=Quick%0D%11054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL9 rs2125313 0.692891 0.6496 0.7029 1 0 0 exonic exonic exonic RPL9 RPL9 ENSG00000163682 synonymous SNV synonymous SNV unknown RPL9:NM_000661:exon5:c.T366C:p.Y122Y,RPL9:NM_001024921:exon4:c.T366C:p.Y122Y, RPL9:uc011byl.1:exon5:c.T366C:p.Y122Y,RPL9:uc003gub.3:exon4:c.T366C:p.Y122Y,RPL9:uc003guc.3:exon5:c.T366C:p.Y122Y, UNKNOWN Het;A>G 764;36|34 Het;A>G 509;31|25 Hom;A>G 1755;0|64 N N - 4 39459724 39459724 T C snp synonymous SNV A336G L112L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RPL9 Rpl9 ENSG00000163682 ribosomal protein L9 chr4:39455744-39460568 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002181;cytoplasmic translation;IBA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;TAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPL9 https://www.ncbi.nlm.nih.gov/omim/?term=603686 http://www.informatics.jax.org/searchtool/Search.do?query=RPL9&submit=Quick%0D%11054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL9 rs2687958 0.69349 0 0.7245 1 0 0 ncRNA_intronic exonic intronic MIR1273H RPL9 ENSG00000163682 Na synonymous SNV Na Na RPL9:uc003gud.1:exon2:c.A336G:p.L112L, Na Het;T>C 419;12|15 Het;T>C 267;23|14 Hom;T>C 759;0|26 N N - 4 39482684 39482684 A C snp ncRNA_exonic LOC401127 rs2260645 0.739217 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC401127 LOC401127 ENSG00000224097 Na Na Na Na Na Na Het;A>C 3684;174|155 Het;A>C 3185;151|145 Hom;A>C 7048;0|264 N N - 4 39483115 39483115 A G snp ncRNA_exonic LOC401127 rs2687980 0.739417 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC401127 LOC401127 ENSG00000224097 Na Na Na Na Na Na Het;A>G 2924;115|123 Het;A>G 1695;113|87 Hom;A>G 5337;5|199 N N - 4 3957091 3957091 C T snp ncRNA_exonic FAM86EP rs12186334 0.604633 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FAM86EP FAM86EP ENSG00000251669,ENSG00000253917 Na Na Na Na Na Na Het;C>T 4571;198|207 Het;C>T 3398;177|159 Hom;C>T 9400;2|354 N N - 4 3957353 3957353 T C snp upstream FAM86EP rs10028062 0.514377 0 0 1 0 0 upstream upstream upstream FAM86EP FAM86EP ENSG00000251669,ENSG00000253917 Na Na Na Na Na Na Het;T>C 277;7|7 Het;T>C 157;1|7 Hom;T>C 258;0|7 N N - 4 40356422 40356422 A G snp nonsynonymous SNV A1325G N442S polar,hydrophilic,neutral polar,hydrophilic,neutral CHRNA9 Chrna9 ENSG00000174343 cholinergic receptor nicotinic alpha 9 subunit chr4:40337346-40357234 This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012] smoking behavior; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukocyte Count; cognitive function; bipolar disorder; Weight Gain; Tobacco Use Disorder Homozygous mutation of this gene results in abnormal innervation of the outer hair cells and depressed olivocochlear response. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IGI|GO:0007605;sensory perception of sound;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005892;acetylcholine-gated channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0015276;ligand-gated ion channel activity;TAS|GO:0022848;acetylcholine-gated cation-selective channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CHRNA9 https://www.ncbi.nlm.nih.gov/omim/?term=605116 http://www.informatics.jax.org/searchtool/Search.do?query=CHRNA9&submit=Quick%0D%13509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRNA9 rs10009228 0.745008 0.7644 0.7837 0.23 3 13 exonic exonic exonic CHRNA9 CHRNA9 ENSG00000174343 nonsynonymous SNV nonsynonymous SNV unknown CHRNA9:NM_017581:exon5:c.A1325G:p.N442S, CHRNA9:uc003gva.2:exon5:c.A1325G:p.N442S, UNKNOWN Het;A>G 1730;87|75 Het;A>G 2125;75|90 Hom;A>G 4587;2|162 N N - 4 41223331 41223331 G A snp ncRNA_intronic UCHL1-AS1 rs10012533 0.708267 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic UCHL1-AS1 UCHL1-AS1 ENSG00000251173 Na Na Na Na Na Na Het;G>A 1111;33|46 Het;G>A 1172;31|49 Hom;G>A 1617;2|54 N N - 4 41258688 41258688 A G snp ncRNA_exonic UCHL1-AS1 rs73809700 0.0722843 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic UCHL1-AS1 UCHL1-AS1 ENSG00000251173 Na Na Na Na Na Na Het;A>G 1302;90|60 Het;A>G 1101;63|50 Hom;A>G 3803;0|138 N N - 4 41258762 41258762 G A snp UTR5 -232G>A UCHL1 Uchl1 ENSG00000154277 ubiquitin C-terminal hydrolase L1 chr4:41258430-41270472 The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009] drug-related genes ; Parkinsons disease; Alzheimer's disease; Huntingtons disease; Huntington Disease; multiple system atrophy; Parkinson's disease ; Huntington's disease; Parkinson's disease Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordinationand decreases in thermal pain sensation. UCH proteinases GO:0002931;response to ischemia;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007409;axonogenesis;IEA|GO:0007412;axon target recognition;IEA|GO:0007628;adult walking behavior;IEA|GO:0008283;cell proliferation;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0016579;protein deubiquitination;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019896;axonal transport of mitochondrion;IEA|GO:0042755;eating behavior;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;NAS|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0048747;muscle fiber development;IEA|GO:0050905;neuromuscular process;IEA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0044306;neuron projection terminus;IEA|GO:0070062;extracellular exosome;IDA|GO:1904115;axon cytoplasm;IEA GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008242;omega peptidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UCHL1 https://www.uniprot.org/uniprot/P09936 https://hpo.jax.org/app/browse/search?q=UCHL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191342 http://www.informatics.jax.org/searchtool/Search.do?query=UCHL1&submit=Quick%0D%9755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCHL1 rs73809701 0.072484 0 0 1 0 0 upstream upstream UTR5 UCHL1,UCHL1-AS1 UCHL1,UCHL1-AS1 ENSG00000154277(ENST00000514924:c.-232G>A) Na Na Na Na Na Na Het;G>A 938;51|39 Het;G>A 480;44|26 Hom;G>A 1750;0|61 N N - 4 41270471 41270471 T C snp UTR3 *842T>C UCHL1 Uchl1 ENSG00000154277 ubiquitin C-terminal hydrolase L1 chr4:41258430-41270472 The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009] drug-related genes ; Parkinsons disease; Alzheimer's disease; Huntingtons disease; Huntington Disease; multiple system atrophy; Parkinson's disease ; Huntington's disease; Parkinson's disease Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordinationand decreases in thermal pain sensation. UCH proteinases GO:0002931;response to ischemia;IEA|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007409;axonogenesis;IEA|GO:0007412;axon target recognition;IEA|GO:0007628;adult walking behavior;IEA|GO:0008283;cell proliferation;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0016579;protein deubiquitination;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019896;axonal transport of mitochondrion;IEA|GO:0042755;eating behavior;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;NAS|GO:0043407;negative regulation of MAP kinase activity;IDA|GO:0048747;muscle fiber development;IEA|GO:0050905;neuromuscular process;IEA GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0044306;neuron projection terminus;IEA|GO:0070062;extracellular exosome;IDA|GO:1904115;axon cytoplasm;IEA GO:0004197;cysteine-type endopeptidase activity;IDA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008242;omega peptidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UCHL1 https://www.uniprot.org/uniprot/P09936 https://hpo.jax.org/app/browse/search?q=UCHL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191342 http://www.informatics.jax.org/searchtool/Search.do?query=UCHL1&submit=Quick%0D%9755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCHL1 rs16852986 0.163938 0 0 1 0 0 downstream downstream UTR3 UCHL1 UCHL1 ENSG00000154277(ENST00000512419:c.*842T>C) Na Na Na Na Na Na Het;T>C 525;11|26 Het;T>C 290;22|16 Hom;T>C 674;0|23 N N - 4 4176201 4176201 C A snp ncRNA_exonic OR7E43P rs28375212 0.248003 0 0 1 0 0 intergenic intergenic ncRNA_exonic FAM86EP(dist=219046),OTOP1(dist=14329) BC042823(dist=99418),OTOP1(dist=14329) ENSG00000249844 Na Na Na Na Na Na Het;C>A 1305;66|59 Het;C>A 1075;78|52 Hom;C>A 2719;0|96 N N - 4 41992677 41992677 C G snp synonymous SNV C9G P3P hydrophobic,neutral hydrophobic,neutral SLC30A9 Slc30a9 ENSG00000014824 solute carrier family 30 member 9 chr4:41992489-42092474 prostate cancer GO:0006289;nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005856;cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0008324;cation transmembrane transporter activity;IEA|GO:0016922;ligand-dependent nuclear receptor binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC30A9 https://www.uniprot.org/uniprot/Q6PML9 https://hpo.jax.org/app/browse/search?q=SLC30A9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604604 http://www.informatics.jax.org/searchtool/Search.do?query=SLC30A9&submit=Quick%0D%611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC30A9 rs2581434 0.706869 0.6532 0.7980 1 0 0 exonic exonic exonic SLC30A9 SLC30A9 ENSG00000014824 synonymous SNV synonymous SNV unknown SLC30A9:NM_006345:exon1:c.C9G:p.P3P, SLC30A9:uc003gwl.3:exon1:c.C9G:p.P3P, UNKNOWN Het;C>G 605;21|29 Het;C>G 304;20|16 Hom;C>G 563;0|22 N N - 4 4241953 4241953 T A snp UTR3 *91A>T TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs3817719 0.32528 0 0 1 0 0 intronic UTR3 intronic TMEM128 TMEM128(uc003ghs.3:c.*91A>T) ENSG00000132406 Na Na Na Na Na Na Het;T>A 402;13|14 Het;T>A 177;14|8 Hom;T>A 548;0|16 N N - 4 4249297 4249297 C T snp intronic TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs2916469 0.45647 0.4139 0.4090 1 0 0 intronic intronic intronic TMEM128 TMEM128 ENSG00000132406 Na Na Na Na Na Na Het;C>T 1382;27|35 Het;C>T 1210;33|32 Hom;C>T 1921;0|43 N N - 4 4249300 4249300 T C snp intronic TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs2916468 0.45647 0.4131 0.4090 1 0 0 intronic intronic intronic TMEM128 TMEM128 ENSG00000132406 Na Na Na Na Na Na Het;T>C 1425;27|38 Het;T>C 1210;34|32 Hom;T>C 2039;0|48 N N - 4 4249414 4249414 A G snp UTR5 -62T>C TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs2980101 0.456669 0.2972 0 1 0 0 UTR5 UTR5 UTR5 TMEM128(NM_032927:c.-62T>C) TMEM128(uc003ghq.1:c.-62T>C) ENSG00000132406(ENST00000254742:c.-62T>C) Na Na Na Na Na Na Het;A>G 1125;26|32 Het;A>G 676;31|19 Hom;A>G 1592;0|36 N N - 4 4249415 4249415 T C snp UTR5 -63A>G TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs2916467 0.456669 0.2902 0 1 0 0 UTR5 UTR5 UTR5 TMEM128(NM_032927:c.-63A>G) TMEM128(uc003ghq.1:c.-63A>G) ENSG00000132406(ENST00000254742:c.-63A>G) Na Na Na Na Na Na Het;T>C 1125;26|29 Het;T>C 676;31|19 Hom;T>C 1592;0|36 N N - 4 4249484 4249484 A C snp UTR5 -132T>G TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs2916465 0.45647 0 0 1 0 0 UTR5 UTR5 UTR5 TMEM128(NM_032927:c.-132T>G) TMEM128(uc003ghq.1:c.-132T>G) ENSG00000132406(ENST00000254742:c.-132T>G) Na Na Na Na Na Na Het;A>C 210;10|8 Het;A>C 172;8|8 Hom;A>C 231;0|6 N N - 4 4249909 4249909 C T snp synonymous SNV G21A R7R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TMEM128 Tmem128 ENSG00000132406 transmembrane protein 128 chr4:4237269-4249950 Parkinson Disease GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM128 https://www.uniprot.org/uniprot/Q5BJH2 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM128&submit=Quick%0D%6666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM128 rs2272746 0.328674 0 0.4566 1 0 0 exonic exonic exonic TMEM128 TMEM128 ENSG00000132406 synonymous SNV synonymous SNV unknown TMEM128:NM_001297551:exon1:c.G21A:p.R7R,TMEM128:NM_001297552:exon1:c.G21A:p.R7R, TMEM128:uc011bvv.1:exon1:c.G21A:p.R7R,TMEM128:uc011bvw.1:exon1:c.G21A:p.R7R,TMEM128:uc003ghr.1:exon1:c.G21A:p.R7R,TMEM128:uc003ghs.3:exon1:c.G21A:p.R7R, UNKNOWN Het;C>T 37;5|3 Het;C>T 58;5|6 Hom;C>T 286;0|11 N N - 4 42965159 42965159 A C snp intronic GRXCR1 Grxcr1 ENSG00000215203 glutaredoxin and cysteine rich domain containing 1 chr4:42895284-43032675 This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] Erythrocyte Count; Hemoglobins Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. GO:0007605;sensory perception of sound;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060118;vestibular receptor cell development;ISS|GO:0060119;inner ear receptor cell development;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS GO:0005902;microvillus;IEA|GO:0005929;cilium;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA GO:0003674;molecular_function;ND|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRXCR1 https://hpo.jax.org/app/browse/search?q=GRXCR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613283 http://www.informatics.jax.org/searchtool/Search.do?query=GRXCR1&submit=Quick%0D%18318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRXCR1 rs10213360 0.855032 0.8252 0.8089 1 0 0 intronic intronic intronic GRXCR1 GRXCR1 ENSG00000215203 Na Na Na Na Na Na Het;A>C 401;28|22 Het;A>C 646;53|33 Hom;A>C 2366;0|83 N N - 4 43082724 43082724 C T snp intergenic GRXCR1 Grxcr1 ENSG00000215203 glutaredoxin and cysteine rich domain containing 1 chr4:42895284-43032675 This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] Erythrocyte Count; Hemoglobins Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. GO:0007605;sensory perception of sound;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060118;vestibular receptor cell development;ISS|GO:0060119;inner ear receptor cell development;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS GO:0005902;microvillus;IEA|GO:0005929;cilium;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA GO:0003674;molecular_function;ND|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRXCR1 https://hpo.jax.org/app/browse/search?q=GRXCR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613283 http://www.informatics.jax.org/searchtool/Search.do?query=GRXCR1&submit=Quick%0D%18318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRXCR1 rs6850056 0.791134 0 0 1 0 0 intergenic intergenic intergenic GRXCR1(dist=50049),KCTD8(dist=1093196) GRXCR1(dist=50049),KCTD8(dist=1093196) ENSG00000215203(dist=50049),ENSG00000248939(dist=53160) Na Na Na Na Na Na Het;C>T 822;97|50 Het;C>T 826;87|47 Hom;C>T 2570;0|101 N N - 4 43094956 43094956 T C snp intergenic GRXCR1 Grxcr1 ENSG00000215203 glutaredoxin and cysteine rich domain containing 1 chr4:42895284-43032675 This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] Erythrocyte Count; Hemoglobins Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. GO:0007605;sensory perception of sound;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060118;vestibular receptor cell development;ISS|GO:0060119;inner ear receptor cell development;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS GO:0005902;microvillus;IEA|GO:0005929;cilium;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA GO:0003674;molecular_function;ND|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRXCR1 https://hpo.jax.org/app/browse/search?q=GRXCR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613283 http://www.informatics.jax.org/searchtool/Search.do?query=GRXCR1&submit=Quick%0D%18318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRXCR1 rs2346192 0.811502 0 0 1 0 0 intergenic intergenic intergenic GRXCR1(dist=62281),KCTD8(dist=1080964) GRXCR1(dist=62281),KCTD8(dist=1080964) ENSG00000215203(dist=62281),ENSG00000248939(dist=40928) Na Na Na Na Na Na Het;T>C 36;6|3 Ref Hom;T>C 256;0|11 N N - 4 43132704 43132705 AT A indel intergenic GRXCR1 Grxcr1 ENSG00000215203 glutaredoxin and cysteine rich domain containing 1 chr4:42895284-43032675 This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] Erythrocyte Count; Hemoglobins Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. GO:0007605;sensory perception of sound;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060118;vestibular receptor cell development;ISS|GO:0060119;inner ear receptor cell development;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS GO:0005902;microvillus;IEA|GO:0005929;cilium;IEA|GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA GO:0003674;molecular_function;ND|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRXCR1 https://hpo.jax.org/app/browse/search?q=GRXCR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613283 http://www.informatics.jax.org/searchtool/Search.do?query=GRXCR1&submit=Quick%0D%18318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRXCR1 rs33979253 0.858227 0 0 1 0 0 intergenic intergenic intergenic GRXCR1(dist=100029),KCTD8(dist=1043215) GRXCR1(dist=100029),KCTD8(dist=1043215) ENSG00000215203(dist=100029),ENSG00000248939(dist=3179) Na Na Na Na Na Na Het;-T 944;72|51 Het;-T 1656;86|84 Hom;-T 4145;1|159 N N - 4 44976804 44976804 T C snp intergenic GNPDA2 Gnpda2 ENSG00000163281 glucosamine-6-phosphate deaminase 2 chr4:44684217-44728612 The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] diabetes, type 2; Erythrocyte Count; Type 2 diabetes; Cholesterol, LDL; obesity|Type 2 diabetes; obesity; Cholesterol; obesity|asthma; Respiratory Function Tests; Diabetes Mellitus, Type 2|Obesity; Glomerular Filtration Rate; Exercise Test; Brain; Adiponectin; Carotid Artery Diseases; Body mass index; HIV-1; Body Weight|Obesity; anorexia nervosa; Body Mass Index Glycolysis GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006044;N-acetylglucosamine metabolic process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004342;glucosamine-6-phosphate deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GNPDA2 https://www.ncbi.nlm.nih.gov/omim/?term=613222 http://www.informatics.jax.org/searchtool/Search.do?query=GNPDA2&submit=Quick%0D%10922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPDA2 rs1497002 0.909944 0 0 1 0 0 intergenic intergenic intergenic GNPDA2(dist=248153),GABRG1(dist=1060983) GNPDA2(dist=248153),BC048420(dist=706531) ENSG00000248987(dist=29826),ENSG00000248744(dist=34753) Na Na Na Na Na Na Het;T>C 134;8|7 Het;T>C 237;10|12 Hom;T>C 202;0|8 N N - 4 45578847 45578847 C T snp intergenic GNPDA2 Gnpda2 ENSG00000163281 glucosamine-6-phosphate deaminase 2 chr4:44684217-44728612 The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] diabetes, type 2; Erythrocyte Count; Type 2 diabetes; Cholesterol, LDL; obesity|Type 2 diabetes; obesity; Cholesterol; obesity|asthma; Respiratory Function Tests; Diabetes Mellitus, Type 2|Obesity; Glomerular Filtration Rate; Exercise Test; Brain; Adiponectin; Carotid Artery Diseases; Body mass index; HIV-1; Body Weight|Obesity; anorexia nervosa; Body Mass Index Glycolysis GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;TAS|GO:0006044;N-acetylglucosamine metabolic process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004342;glucosamine-6-phosphate deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GNPDA2 https://www.ncbi.nlm.nih.gov/omim/?term=613222 http://www.informatics.jax.org/searchtool/Search.do?query=GNPDA2&submit=Quick%0D%10922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNPDA2 rs1684755 0.940096 0 0 1 0 0 intergenic intergenic intergenic GNPDA2(dist=850196),GABRG1(dist=458940) GNPDA2(dist=850196),BC048420(dist=104488) ENSG00000200720(dist=96694),ENSG00000222257(dist=418289) Na Na Na Na Na Na Het;C>T 176;3|6 Het;C>T 134;9|6 Hom;C>T 365;0|11 N N - 4 46042945 46042945 C T snp UTR3 *60G>A GABRG1 Gabrg1 ENSG00000163285 gamma-aminobutyric acid type A receptor gamma1 subunit chr4:46037786-46126098 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008] Bipolar Disorder; autism; Carotid Artery Diseases; Mortality; schizophrenia | autism; alcohol dependence; bipolar schizoaffective disorder; Alcoholism|; alcohol; Bulimia; Blood Pressure; Tobacco Use Disorder; several psychiatric disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0050811;GABA receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRG1 https://www.ncbi.nlm.nih.gov/omim/?term=137166 http://www.informatics.jax.org/searchtool/Search.do?query=GABRG1&submit=Quick%0D%10924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRG1 rs6447493 0.461462 0 0 1 0 0 UTR3 UTR3 UTR3 GABRG1(NM_173536:c.*60G>A) GABRG1(uc003gxb.3:c.*60G>A) ENSG00000163285(ENST00000295452:c.*60G>A) Na Na Na Na Na Na Het;C>T 72;1|3 Het;C>T 204;9|9 Hom;C>T 528;0|18 N N - 4 46066356 46066356 C T snp intronic GABRG1 Gabrg1 ENSG00000163285 gamma-aminobutyric acid type A receptor gamma1 subunit chr4:46037786-46126098 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008] Bipolar Disorder; autism; Carotid Artery Diseases; Mortality; schizophrenia | autism; alcohol dependence; bipolar schizoaffective disorder; Alcoholism|; alcohol; Bulimia; Blood Pressure; Tobacco Use Disorder; several psychiatric disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0050811;GABA receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRG1 https://www.ncbi.nlm.nih.gov/omim/?term=137166 http://www.informatics.jax.org/searchtool/Search.do?query=GABRG1&submit=Quick%0D%10924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRG1 rs6838525 0.463059 0 0 1 0 0 intronic intronic intronic GABRG1 GABRG1 ENSG00000163285 Na Na Na Na Na Na Het;C>T 353;7|11 Het;C>T 317;6|10 Hom;C>T 483;0|15 N N - 4 46086060 46086060 T C snp synonymous SNV A264G T88T polar,hydrophilic,neutral polar,hydrophilic,neutral GABRG1 Gabrg1 ENSG00000163285 gamma-aminobutyric acid type A receptor gamma1 subunit chr4:46037786-46126098 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008] Bipolar Disorder; autism; Carotid Artery Diseases; Mortality; schizophrenia | autism; alcohol dependence; bipolar schizoaffective disorder; Alcoholism|; alcohol; Bulimia; Blood Pressure; Tobacco Use Disorder; several psychiatric disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0050811;GABA receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRG1 https://www.ncbi.nlm.nih.gov/omim/?term=137166 http://www.informatics.jax.org/searchtool/Search.do?query=GABRG1&submit=Quick%0D%10924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRG1 rs976156 0.508986 0.6024 0.5726 1 0 0 exonic exonic exonic GABRG1 GABRG1 ENSG00000163285 synonymous SNV synonymous SNV unknown GABRG1:NM_173536:exon3:c.A264G:p.T88T, GABRG1:uc003gxb.3:exon3:c.A264G:p.T88T, UNKNOWN Het;T>C 395;32|22 Het;T>C 1019;56|53 Hom;T>C 2390;0|91 N N - 4 46305733 46305733 T C snp intronic GABRA2 Gabra2 ENSG00000151834 gamma-aminobutyric acid type A receptor alpha2 subunit chr4:46250444-46477247 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; autism; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Marijuana Abuse|Tobacco Use Disorder; alcohol dependence conduct disorder drug dependence; Bipolar Disorder; alcoholism; Arteries; substance abuse; Alcoholism|Marijuana Abuse; Bulimia; Tobacco Use Disorder; alcohol consumption; alcohol; alcohol effects; alcoholism illicit drug dependence marijuana dependence; Alcoholism|; Diseases in Twins; Triglycerides; Hypercholesterolemia|LDLC levels; schizophrenia | autism; bipolar schizoaffective disorder; Alcohol-Induced Disorders, Nervous System|Alcoholism; alcohol dependence; several psychiatric disorders; Alcoholism Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. GABA A receptor activation GO:0001505;regulation of neurotransmitter levels;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006836;neurotransmitter transport;IMP|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;IDA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098794;postsynapse;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008503;benzodiazepine receptor activity;IMP|GO:0022851;GABA-gated chloride ion channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GABRA2 https://www.uniprot.org/uniprot/P47869 https://www.ncbi.nlm.nih.gov/omim/?term=137140 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA2&submit=Quick%0D%9476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA2 rs279871 0.366813 0 0 1 0 0 intronic intronic intronic GABRA2 GABRA2 ENSG00000151834 Na Na Na Na Na Na Het;T>C 1342;59|57 Het;T>C 998;56|45 Hom;T>C 3546;0|123 N N - 4 46314367 46314367 A G snp intronic GABRA2 Gabra2 ENSG00000151834 gamma-aminobutyric acid type A receptor alpha2 subunit chr4:46250444-46477247 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; autism; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Marijuana Abuse|Tobacco Use Disorder; alcohol dependence conduct disorder drug dependence; Bipolar Disorder; alcoholism; Arteries; substance abuse; Alcoholism|Marijuana Abuse; Bulimia; Tobacco Use Disorder; alcohol consumption; alcohol; alcohol effects; alcoholism illicit drug dependence marijuana dependence; Alcoholism|; Diseases in Twins; Triglycerides; Hypercholesterolemia|LDLC levels; schizophrenia | autism; bipolar schizoaffective disorder; Alcohol-Induced Disorders, Nervous System|Alcoholism; alcohol dependence; several psychiatric disorders; Alcoholism Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. GABA A receptor activation GO:0001505;regulation of neurotransmitter levels;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006836;neurotransmitter transport;IMP|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;IDA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098794;postsynapse;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008503;benzodiazepine receptor activity;IMP|GO:0022851;GABA-gated chloride ion channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GABRA2 https://www.uniprot.org/uniprot/P47869 https://www.ncbi.nlm.nih.gov/omim/?term=137140 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA2&submit=Quick%0D%9476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA2 rs279859 0.502796 0 0 1 0 0 intronic intronic intronic GABRA2 GABRA2 ENSG00000151834 Na Na Na Na Na Na Het;A>G 364;11|12 Het;A>G 113;5|4 Hom;A>G 220;0|6 N N - 4 46314593 46314593 T C snp synonymous SNV A231G K77K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) GABRA2 Gabra2 ENSG00000151834 gamma-aminobutyric acid type A receptor alpha2 subunit chr4:46250444-46477247 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; autism; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Marijuana Abuse|Tobacco Use Disorder; alcohol dependence conduct disorder drug dependence; Bipolar Disorder; alcoholism; Arteries; substance abuse; Alcoholism|Marijuana Abuse; Bulimia; Tobacco Use Disorder; alcohol consumption; alcohol; alcohol effects; alcoholism illicit drug dependence marijuana dependence; Alcoholism|; Diseases in Twins; Triglycerides; Hypercholesterolemia|LDLC levels; schizophrenia | autism; bipolar schizoaffective disorder; Alcohol-Induced Disorders, Nervous System|Alcoholism; alcohol dependence; several psychiatric disorders; Alcoholism Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. GABA A receptor activation GO:0001505;regulation of neurotransmitter levels;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006836;neurotransmitter transport;IMP|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;IDA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098794;postsynapse;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008503;benzodiazepine receptor activity;IMP|GO:0022851;GABA-gated chloride ion channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GABRA2 https://www.uniprot.org/uniprot/P47869 https://www.ncbi.nlm.nih.gov/omim/?term=137140 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA2&submit=Quick%0D%9476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA2 rs279858 0.363019 0.3776 0.3980 1 0 0 exonic exonic exonic GABRA2 GABRA2 ENSG00000151834 synonymous SNV synonymous SNV unknown GABRA2:NM_001286827:exon4:c.A231G:p.K77K,GABRA2:NM_000807:exon5:c.A396G:p.K132K,GABRA2:NM_001114175:exon4:c.A396G:p.K132K, GABRA2:uc011bzc.1:exon4:c.A231G:p.K77K,GABRA2:uc003gxc.3:exon4:c.A396G:p.K132K,GABRA2:uc003gxe.3:exon5:c.A396G:p.K132K,GABRA2:uc010igc.2:exon5:c.A396G:p.K132K, UNKNOWN Het;T>C 2147;118|99 Het;T>C 2496;124|117 Hom;T>C 8253;0|310 N N - 4 46334702 46334702 A G snp intronic GABRA2 Gabra2 ENSG00000151834 gamma-aminobutyric acid type A receptor alpha2 subunit chr4:46250444-46477247 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; autism; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Marijuana Abuse|Tobacco Use Disorder; alcohol dependence conduct disorder drug dependence; Bipolar Disorder; alcoholism; Arteries; substance abuse; Alcoholism|Marijuana Abuse; Bulimia; Tobacco Use Disorder; alcohol consumption; alcohol; alcohol effects; alcoholism illicit drug dependence marijuana dependence; Alcoholism|; Diseases in Twins; Triglycerides; Hypercholesterolemia|LDLC levels; schizophrenia | autism; bipolar schizoaffective disorder; Alcohol-Induced Disorders, Nervous System|Alcoholism; alcohol dependence; several psychiatric disorders; Alcoholism Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. GABA A receptor activation GO:0001505;regulation of neurotransmitter levels;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006836;neurotransmitter transport;IMP|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;IDA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098794;postsynapse;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008503;benzodiazepine receptor activity;IMP|GO:0022851;GABA-gated chloride ion channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GABRA2 https://www.uniprot.org/uniprot/P47869 https://www.ncbi.nlm.nih.gov/omim/?term=137140 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA2&submit=Quick%0D%9476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA2 rs279827 0.412939 0.4127 0.4294 1 0 0 intronic intronic intronic GABRA2 GABRA2 ENSG00000151834 Na Na Na Na Na Na Het;A>G 846;34|37 Het;A>G 735;22|32 Hom;A>G 1822;0|64 N N - 4 46334810 46334810 A C snp intronic GABRA2 Gabra2 ENSG00000151834 gamma-aminobutyric acid type A receptor alpha2 subunit chr4:46250444-46477247 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; autism; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Marijuana Abuse|Tobacco Use Disorder; alcohol dependence conduct disorder drug dependence; Bipolar Disorder; alcoholism; Arteries; substance abuse; Alcoholism|Marijuana Abuse; Bulimia; Tobacco Use Disorder; alcohol consumption; alcohol; alcohol effects; alcoholism illicit drug dependence marijuana dependence; Alcoholism|; Diseases in Twins; Triglycerides; Hypercholesterolemia|LDLC levels; schizophrenia | autism; bipolar schizoaffective disorder; Alcohol-Induced Disorders, Nervous System|Alcoholism; alcohol dependence; several psychiatric disorders; Alcoholism Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. GABA A receptor activation GO:0001505;regulation of neurotransmitter levels;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006836;neurotransmitter transport;IMP|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;IDA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098794;postsynapse;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008503;benzodiazepine receptor activity;IMP|GO:0022851;GABA-gated chloride ion channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GABRA2 https://www.uniprot.org/uniprot/P47869 https://www.ncbi.nlm.nih.gov/omim/?term=137140 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA2&submit=Quick%0D%9476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA2 rs279828 0.412939 0 0 1 0 0 intronic intronic intronic GABRA2 GABRA2 ENSG00000151834 Na Na Na Na Na Na Het;A>C 210;10|7 Het;A>C 116;2|4 Hom;A>C 139;0|4 N N - 4 46339070 46339070 T A snp intronic GABRA2 Gabra2 ENSG00000151834 gamma-aminobutyric acid type A receptor alpha2 subunit chr4:46250444-46477247 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; autism; Type 2 Diabetes| edema | rosiglitazone; Alcoholism|Marijuana Abuse|Tobacco Use Disorder; alcohol dependence conduct disorder drug dependence; Bipolar Disorder; alcoholism; Arteries; substance abuse; Alcoholism|Marijuana Abuse; Bulimia; Tobacco Use Disorder; alcohol consumption; alcohol; alcohol effects; alcoholism illicit drug dependence marijuana dependence; Alcoholism|; Diseases in Twins; Triglycerides; Hypercholesterolemia|LDLC levels; schizophrenia | autism; bipolar schizoaffective disorder; Alcohol-Induced Disorders, Nervous System|Alcoholism; alcohol dependence; several psychiatric disorders; Alcoholism Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. GABA A receptor activation GO:0001505;regulation of neurotransmitter levels;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006836;neurotransmitter transport;IMP|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030285;integral component of synaptic vesicle membrane;IDA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060077;inhibitory synapse;IEA|GO:0098794;postsynapse;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IBA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008503;benzodiazepine receptor activity;IMP|GO:0022851;GABA-gated chloride ion channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GABRA2 https://www.uniprot.org/uniprot/P47869 https://www.ncbi.nlm.nih.gov/omim/?term=137140 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA2&submit=Quick%0D%9476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA2 rs279836 0.380391 0 0 1 0 0 intronic intronic intronic GABRA2 GABRA2 ENSG00000151834 Na Na Na Na Na Na Het;T>A 240;12|14 Het;T>A 336;9|16 Hom;T>A 579;0|24 N N - 4 4763704 4763704 G A snp ncRNA_exonic LOC101928279 rs1039904 0.504593 0 0 1 0 0 ncRNA_exonic UTR5 intergenic LOC101928279 AK056081(uc003gie.2:c.-84G>A) ENSG00000247708(dist=51039),ENSG00000273396(dist=82460) Na Na Na Na Na Na Het;G>A 1141;44|47 Het;G>A 599;36|30 Hom;G>A 1674;0|57 N N - 4 4763850 4763850 T C snp ncRNA_intronic LOC101928279 rs1039905 0.470447 0 0 1 0 0 ncRNA_intronic intronic intergenic LOC101928279 AK056081 ENSG00000247708(dist=51185),ENSG00000273396(dist=82314) Na Na Na Na Na Na Het;T>C 332;13|15 Ref Hom;T>C 593;0|21 N N - 4 4766265 4766265 G A snp ncRNA_intronic LOC101928279 rs6446685 0.447684 0 0 1 0 0 ncRNA_intronic intronic intergenic LOC101928279 AK056081 ENSG00000247708(dist=53600),ENSG00000273396(dist=79899) Na Na Na Na Na Na Het;G>A 96;7|5 Het;G>A 167;9|7 Hom;G>A 525;0|18 N N - 4 4787551 4787551 G C snp ncRNA_exonic LOC101928279 rs2933587 0.809904 0 0 1 0 0 ncRNA_exonic UTR3 intergenic LOC101928279 AK056081(uc003gie.2:c.*265G>C) ENSG00000247708(dist=74886),ENSG00000273396(dist=58613) Na Na Na Na Na Na Het;G>C 2890;117|119 Het;G>C 2663;114|112 Hom;G>C 6023;3|216 N N - 4 4789059 4789059 G A snp ncRNA_exonic LOC101928279 rs2933577 0.798123 0 0 1 0 0 ncRNA_exonic UTR3 intergenic LOC101928279 AK056081(uc003gie.2:c.*1773G>A) ENSG00000247708(dist=76394),ENSG00000273396(dist=57105) Na Na Na Na Na Na Het;G>A 447;14|18 Het;G>A 447;19|20 Hom;G>A 1112;0|38 N N - 4 49215279 49215279 C A snp upstream AC118282.2 rs75787225 0 0 0 1 0 0 intergenic intergenic upstream CWH43(dist=151184),NONE(dist=NONE) DQ579288(dist=10188),DQ583161(dist=21000) ENSG00000249079 Na Na Na Na Na Na Het;C>A 173;2|5 Het;C>A 134;2|3 Hom;C>A 242;0|6 N N - 4 49239543 49239543 A T snp ncRNA_intronic AC118282.1 Na 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic CWH43(dist=175448),NONE(dist=NONE) DQ579969(dist=2147),DQ593719(dist=322533) ENSG00000237961 Na Na Na Na Na Na Het;A>T 50;2|2 Ref Hom;A>T 177;0|4 N N - 4 49239546 49239546 A C snp ncRNA_intronic AC118282.1 rs551425421 0.000599042 0 0 1 0 0 intergenic intergenic ncRNA_intronic CWH43(dist=175451),NONE(dist=NONE) DQ579969(dist=2150),DQ593719(dist=322530) ENSG00000237961 Na Na Na Na Na Na Het;A>C 50;2|2 Ref Hom;A>C 177;0|5 N N - 4 51709 51709 C A snp intergenic NONE rs2859213 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),ZNF595(dist=1470) NONE(dist=NONE),ZNF718(dist=1518) ENSG00000248302(dist=1691),ENSG00000197701(dist=1489) Na Na Na Na Na Na Het;C>A 73;2|3 Het;C>A 335;7|17 Hom;C>A 505;0|21 N N - 4 53263156 53263156 A T snp intergenic SPATA18 Spata18 ENSG00000163071 spermatogenesis associated 18 chr4:52917497-52963458 This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Echocardiography; Blood Coagulation Factors; Triglycerides; Uric Acid Homo- or heterozygous KO in mice also carrying one copy of the ApcMin allele leads to increased intestinal adenoma and adenocarcinoma tumor incidence and size. This double mutation and homozygous KO of the gene alone results in lower internal mitochondrial cristae density in small intestinal mucosal epithelium. GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0033554;cellular response to stress;IEA|GO:0035694;mitochondrial protein catabolic process;IMP|GO:0035695;mitophagy by induced vacuole formation;IMP GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPATA18 https://www.ncbi.nlm.nih.gov/omim/?term=612814 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA18&submit=Quick%0D%10871ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA18 rs13108760 0.520767 0 0 1 0 0 intergenic intergenic intergenic SPATA18(dist=299685),USP46(dist=193971) SPATA18(dist=299698),USP46(dist=193971) ENSG00000163071(dist=299698),ENSG00000251286(dist=43504) Na Na Na Na Na Na Het;A>T 250;6|9 Ref Hom;A>T 199;0|6 N N - 4 53263250 53263250 T C snp intergenic SPATA18 Spata18 ENSG00000163071 spermatogenesis associated 18 chr4:52917497-52963458 This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Echocardiography; Blood Coagulation Factors; Triglycerides; Uric Acid Homo- or heterozygous KO in mice also carrying one copy of the ApcMin allele leads to increased intestinal adenoma and adenocarcinoma tumor incidence and size. This double mutation and homozygous KO of the gene alone results in lower internal mitochondrial cristae density in small intestinal mucosal epithelium. GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0033554;cellular response to stress;IEA|GO:0035694;mitochondrial protein catabolic process;IMP|GO:0035695;mitophagy by induced vacuole formation;IMP GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPATA18 https://www.ncbi.nlm.nih.gov/omim/?term=612814 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA18&submit=Quick%0D%10871ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA18 rs12716054 0.240016 0 0 1 0 0 intergenic intergenic intergenic SPATA18(dist=299779),USP46(dist=193877) SPATA18(dist=299792),USP46(dist=193877) ENSG00000163071(dist=299792),ENSG00000251286(dist=43410) Na Na Na Na Na Na Het;T>C 688;47|33 Het;T>C 571;40|28 Hom;T>C 1956;0|72 N N - 4 53263345 53263345 G T snp intergenic SPATA18 Spata18 ENSG00000163071 spermatogenesis associated 18 chr4:52917497-52963458 This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Echocardiography; Blood Coagulation Factors; Triglycerides; Uric Acid Homo- or heterozygous KO in mice also carrying one copy of the ApcMin allele leads to increased intestinal adenoma and adenocarcinoma tumor incidence and size. This double mutation and homozygous KO of the gene alone results in lower internal mitochondrial cristae density in small intestinal mucosal epithelium. GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0033554;cellular response to stress;IEA|GO:0035694;mitochondrial protein catabolic process;IMP|GO:0035695;mitophagy by induced vacuole formation;IMP GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPATA18 https://www.ncbi.nlm.nih.gov/omim/?term=612814 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA18&submit=Quick%0D%10871ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA18 rs12716055 0.523562 0 0 1 0 0 intergenic intergenic intergenic SPATA18(dist=299874),USP46(dist=193782) SPATA18(dist=299887),USP46(dist=193782) ENSG00000163071(dist=299887),ENSG00000251286(dist=43315) Na Na Na Na Na Na Het;G>T 498;74|33 Het;G>T 937;69|52 Hom;G>T 2845;0|114 N N - 4 53681594 53681594 C T snp ncRNA_exonic LOC152578 rs4864676 0.347644 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC152578 LOC152578 ENSG00000250302 Na Na Na Na Na Na Het;C>T 168;25|10 Het;C>T 286;10|12 Hom;C>T 600;0|20 N N - 4 5469810 5469810 T C snp intronic STK32B Stk32b ENSG00000152953 serine/threonine kinase 32B chr4:5053169-5502725 This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Tobacco Use Disorder; Hip; Cleft Lip|Cleft Palate; Electrocardiography; Lipoproteins, LDL; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32B https://www.uniprot.org/uniprot/Q9NY57 http://www.informatics.jax.org/searchtool/Search.do?query=STK32B&submit=Quick%0D%9609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32B rs2301855 0.280152 0.4082 0.3689 1 0 0 intronic intronic intronic STK32B STK32B ENSG00000152953 Na Na Na Na Na Na Het;T>C 1162;46|52 Het;T>C 1179;45|53 Hom;T>C 2699;0|102 N N - 4 5469916 5469916 G A snp intronic STK32B Stk32b ENSG00000152953 serine/threonine kinase 32B chr4:5053169-5502725 This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Tobacco Use Disorder; Hip; Cleft Lip|Cleft Palate; Electrocardiography; Lipoproteins, LDL; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK32B https://www.uniprot.org/uniprot/Q9NY57 http://www.informatics.jax.org/searchtool/Search.do?query=STK32B&submit=Quick%0D%9609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK32B rs41268643 0.382188 0 0 1 0 0 intronic intronic intronic STK32B STK32B ENSG00000152953 Na Na Na Na Na Na Het;G>A 299;6|11 Het;G>A 171;3|6 Hom;G>A 153;0|5 N N - 4 54749995 54749995 G GT indel intronic FIP1L1 ENSG00000145216 factor interacting with PAPOLA and CPSF1 chr4:54243810-55161439 This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Potassium Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1 https://www.uniprot.org/uniprot/Q6UN15 https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607686 http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1 rs35887258 0.686102 0 0 1 0 0 intergenic intronic intronic LOC100506444(dist=149470),RPL21P44(dist=101671) PDGFRA ENSG00000145216 Na Na Na Na Na Na Het;+T 86;5|5 Het;+T 167;2|5 Hom;+T 176;0|7 N N - 4 54750187 54750188 CT C indel intronic FIP1L1 ENSG00000145216 factor interacting with PAPOLA and CPSF1 chr4:54243810-55161439 This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Potassium Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IBA|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IBA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FIP1L1 https://www.uniprot.org/uniprot/Q6UN15 https://hpo.jax.org/app/browse/search?q=FIP1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607686 http://www.informatics.jax.org/searchtool/Search.do?query=FIP1L1&submit=Quick%0D%8707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FIP1L1 rs5858251 0.707069 0 0 1 0 0 intergenic intronic intronic LOC100506444(dist=149662),RPL21P44(dist=101478) PDGFRA ENSG00000145216 Na Na Na Na Na Na Het;-T 630;10|31 Het;-T 597;10|29 Hom;-T 1687;2|70 N N - 4 54967214 54967214 C T snp intronic GSX2 Gsx2 ENSG00000180613 GS homeobox 2 chr4:54965690-54968672 Mice homozygous for a targeted null mutation die within 24 hrs after birth, displaying an early misspecification of precursors in the lateral ganglionic eminence that leads to disruptions in striatal and olfactory bulb development. GO:0002087;regulation of respiratory gaseous exchange by neurological system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0021527;spinal cord association neuron differentiation;IEA|GO:0021544;subpallium development;IEA|GO:0021575;hindbrain morphogenesis;IEA|GO:0021798;forebrain dorsal/ventral pattern formation;IEA|GO:0021889;olfactory bulb interneuron differentiation;IEA|GO:0021978;telencephalon regionalization;IEA|GO:0030334;regulation of cell migration;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048665;neuron fate specification;IEA|GO:0048714;positive regulation of oligodendrocyte differentiation;IEA|GO:0048853;forebrain morphogenesis;IEA|GO:0060163;subpallium neuron fate commitment;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GSX2 https://www.ncbi.nlm.nih.gov/omim/?term=616253 http://www.informatics.jax.org/searchtool/Search.do?query=GSX2&submit=Quick%0D%14503ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSX2 rs6554148 0.778754 0 0 1 0 0 intronic intronic intronic GSX2 GSX2,PDGFRA ENSG00000145216,ENSG00000180613 Na Na Na Na Na Na Het;C>T 258;15|10 Het;C>T 155;12|8 Hom;C>T 413;0|13 N N - 4 5564191 5564191 A T snp UTR3 *384T>A EVC2 Evc2 ENSG00000173040 EvC ciliary complex subunit 2 chr4:5544499-5711275 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Socioeconomic Factors; Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. Activation of SMO GO:0007224;smoothened signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC2 https://hpo.jax.org/app/browse/search?q=EVC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607261 http://www.informatics.jax.org/searchtool/Search.do?query=EVC2&submit=Quick%0D%13280ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC2 rs2287576 0.540935 0 0 1 0 0 UTR3 UTR3 UTR3 EVC2(NM_001166136:c.*384T>A,NM_147127:c.*384T>A) EVC2(uc003gij.3:c.*384T>A,uc003gik.3:c.*384T>A,uc011bwb.2:c.*384T>A) ENSG00000173040(ENST00000310917:c.*384T>A,ENST00000344408:c.*384T>A) Na Na Na Na Na Na Het;A>T 401;17|18 Het;A>T 570;17|25 Hom;A>T 1132;0|42 N N - 4 55706585 55706585 G T snp ncRNA_intronic AC097494.1 rs2173228 0.524161 0 0 1 0 0 intergenic intergenic ncRNA_intronic KIT(dist=99704),KDR(dist=237841) KIT(dist=99704),U6(dist=191547) ENSG00000249727 Na Na Na Na Na Na Het;G>T 296;18|16 Het;G>T 263;21|14 Hom;G>T 988;0|38 N N - 4 5577986 5577986 G A snp synonymous SNV C3253T L1085L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EVC2 Evc2 ENSG00000173040 EvC ciliary complex subunit 2 chr4:5544499-5711275 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Socioeconomic Factors; Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. Activation of SMO GO:0007224;smoothened signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC2 https://hpo.jax.org/app/browse/search?q=EVC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607261 http://www.informatics.jax.org/searchtool/Search.do?query=EVC2&submit=Quick%0D%13280ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC2 rs112554914 0.0275559 0.0513 0.0605 1 0 0 exonic exonic exonic EVC2 EVC2 ENSG00000173040 synonymous SNV synonymous SNV unknown EVC2:NM_147127:exon18:c.C3253T:p.L1085L,EVC2:NM_001166136:exon18:c.C3013T:p.L1005L, EVC2:uc003gik.3:exon18:c.C3013T:p.L1005L,EVC2:uc003gij.3:exon18:c.C3253T:p.L1085L,EVC2:uc011bwb.2:exon19:c.C1573T:p.L525L, UNKNOWN Het;G>A 1115;58|47 Het;G>A 1585;75|67 Hom;G>A 3286;1|119 N N - 4 5578358 5578358 G A snp intronic EVC2 Evc2 ENSG00000173040 EvC ciliary complex subunit 2 chr4:5544499-5711275 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Socioeconomic Factors; Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. Activation of SMO GO:0007224;smoothened signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC2 https://hpo.jax.org/app/browse/search?q=EVC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607261 http://www.informatics.jax.org/searchtool/Search.do?query=EVC2&submit=Quick%0D%13280ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC2 rs112812794 0.0271565 0 0 1 0 0 intronic intronic intronic EVC2 EVC2 ENSG00000173040 Na Na Na Na Na Na Het;G>A 33;4|2 Het;G>A 66;3|3 Hom;G>A 165;0|5 N N - 4 5642141 5642141 C T snp intronic EVC2 Evc2 ENSG00000173040 EvC ciliary complex subunit 2 chr4:5544499-5711275 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Socioeconomic Factors; Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. Activation of SMO GO:0007224;smoothened signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC2 https://hpo.jax.org/app/browse/search?q=EVC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607261 http://www.informatics.jax.org/searchtool/Search.do?query=EVC2&submit=Quick%0D%13280ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC2 rs751842 0.400759 0 0 1 0 0 intronic intronic intronic EVC2 EVC2 ENSG00000173040 Na Na Na Na Na Na Het;C>T 481;16|18 Het;C>T 497;13|19 Hom;C>T 478;0|11 N N - 4 56734701 56734701 C T snp intronic EXOC1 Exoc1 ENSG00000090989 exocyst complex component 1 chr4:56719782-56771200 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. VxPx cargo-targeting to cilium GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IBA|GO:0015031;protein transport;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0050714;positive regulation of protein secretion;IMP|GO:0051601;exocyst localization;IBA GO:0000145;exocyst;NAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0098592;cytoplasmic side of apical plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0017049;GTP-Rho binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/EXOC1 https://www.uniprot.org/uniprot/Q9NV70 https://www.ncbi.nlm.nih.gov/omim/?term=607879 http://www.informatics.jax.org/searchtool/Search.do?query=EXOC1&submit=Quick%0D%2128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC1 rs3213948 0.544329 0.5515 0.5610 1 0 0 intronic intronic intronic EXOC1 EXOC1 ENSG00000090989 Na Na Na Na Na Na Het;C>T 1182;41|51 Het;C>T 1469;32|62 Hom;C>T 3466;0|129 N N - 4 56763170 56763170 A G snp intronic EXOC1 Exoc1 ENSG00000090989 exocyst complex component 1 chr4:56719782-56771200 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. VxPx cargo-targeting to cilium GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006893;Golgi to plasma membrane transport;IBA|GO:0015031;protein transport;IEA|GO:0016241;regulation of macroautophagy;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IDA|GO:0050714;positive regulation of protein secretion;IMP|GO:0051601;exocyst localization;IBA GO:0000145;exocyst;NAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0098592;cytoplasmic side of apical plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0017049;GTP-Rho binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/EXOC1 https://www.uniprot.org/uniprot/Q9NV70 https://www.ncbi.nlm.nih.gov/omim/?term=607879 http://www.informatics.jax.org/searchtool/Search.do?query=EXOC1&submit=Quick%0D%2128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC1 rs10014018 0.823682 0 0 1 0 0 intronic intronic intronic EXOC1 EXOC1 ENSG00000090989 Na Na Na Na Na Na Het;A>G 343;15|13 Het;A>G 193;3|8 Hom;A>G 445;0|13 N N - 4 5733538 5733538 A G snp intronic EVC Evc ENSG00000072840 EvC ciliary complex subunit 1 chr4:5712924-5830772 This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Prostatic Neoplasms; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; suicide Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. Activation of SMO GO:0001501;skeletal system development;TAS|GO:0003416;endochondral bone growth;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0019538;protein metabolic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051216;cartilage development;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC https://www.uniprot.org/uniprot/P57679 https://hpo.jax.org/app/browse/search?q=EVC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604831 http://www.informatics.jax.org/searchtool/Search.do?query=EVC&submit=Quick%0D%1451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC rs55634350 0.0822684 0 0 1 0 0 intronic intronic intronic EVC EVC ENSG00000072840 Na Na Na Na Na Na Het;A>G 113;2|4 Het;A>G 70;3|3 Hom;A>G 173;0|5 N N - 4 57450848 57450848 A C snp intronic THEGL Thegl ENSG00000249693 theg spermatid protein like chr4:57396775-57469673 http://www.genecards.org/index.php?path=/Search/keyword/THEGL http://www.informatics.jax.org/searchtool/Search.do?query=THEGL&submit=Quick%0D%19928ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THEGL rs4345238 0.14976 0 0 1 0 0 intronic intronic intronic THEGL THEGL ENSG00000249693 Na Na Na Na Na Na Het;A>C 450;13|16 Het;A>C 472;9|16 Hom;A>C 673;0|24 N N - 4 5750003 5750003 A G snp synonymous SNV A1068G L356L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EVC Evc ENSG00000072840 EvC ciliary complex subunit 1 chr4:5712924-5830772 This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Prostatic Neoplasms; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; suicide Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. Activation of SMO GO:0001501;skeletal system development;TAS|GO:0003416;endochondral bone growth;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0019538;protein metabolic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051216;cartilage development;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC https://www.uniprot.org/uniprot/P57679 https://hpo.jax.org/app/browse/search?q=EVC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604831 http://www.informatics.jax.org/searchtool/Search.do?query=EVC&submit=Quick%0D%1451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC rs33929747 0.217452 0.2738 0.2925 1 0 0 exonic exonic exonic EVC EVC ENSG00000072840 synonymous SNV synonymous SNV unknown EVC:NM_153717:exon8:c.A1068G:p.L356L, EVC:uc003gil.1:exon8:c.A1068G:p.L356L, UNKNOWN Het;A>G 696;29|29 Het;A>G 662;19|29 Hom;A>G 1783;0|63 N N - 4 5754544 5754544 T C snp intronic EVC Evc ENSG00000072840 EvC ciliary complex subunit 1 chr4:5712924-5830772 This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Prostatic Neoplasms; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; suicide Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. Activation of SMO GO:0001501;skeletal system development;TAS|GO:0003416;endochondral bone growth;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0019538;protein metabolic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051216;cartilage development;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC https://www.uniprot.org/uniprot/P57679 https://hpo.jax.org/app/browse/search?q=EVC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604831 http://www.informatics.jax.org/searchtool/Search.do?query=EVC&submit=Quick%0D%1451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC rs899691 0.321486 0.3737 0.4000 1 0 0 intronic intronic intronic EVC EVC ENSG00000072840 Na Na Na Na Na Na Het;T>C 542;37|24 Het;T>C 1057;31|48 Hom;T>C 1649;2|65 N N - 4 57624037 57624037 G A snp intergenic HOPX Hopx ENSG00000171476 HOP homeobox chr4:57514155-57548065 The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009] Homozygous inactivation of this gene causes partial embryonic lethality due to severe developmental cardiac anomalies involving the myocardium, and leads to conduction defects in surviving adults. Mice homozygous for one null allele also exhibit impairedlung maturation leading to neonatal death. GO:0001829;trophectodermal cell differentiation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0045596;negative regulation of cell differentiation;IDA|GO:0051131;chaperone-mediated protein complex assembly;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HOPX https://www.ncbi.nlm.nih.gov/omim/?term=607275 http://www.informatics.jax.org/searchtool/Search.do?query=HOPX&submit=Quick%0D%12937ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOPX rs6818605 0.389976 0 0 1 0 0 intergenic intergenic intergenic HOPX(dist=76165),SPINK2(dist=51989) HOPX(dist=76165),SPINK2(dist=51989) ENSG00000241250(dist=47257),ENSG00000227040(dist=3048) Na Na Na Na Na Na Het;G>A 531;27|25 Het;G>A 165;25|10 Hom;G>A 1531;0|58 N N - 4 5785442 5785442 G A snp nonsynonymous SNV G1727A R576Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral EVC Evc ENSG00000072840 EvC ciliary complex subunit 1 chr4:5712924-5830772 This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Prostatic Neoplasms; Cleft Lip|Cleft Palate; Type 2 Diabetes| edema | rosiglitazone; suicide Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. Activation of SMO GO:0001501;skeletal system development;TAS|GO:0003416;endochondral bone growth;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007517;muscle organ development;TAS|GO:0019538;protein metabolic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0051216;cartilage development;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/EVC https://www.uniprot.org/uniprot/P57679 https://hpo.jax.org/app/browse/search?q=EVC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604831 http://www.informatics.jax.org/searchtool/Search.do?query=EVC&submit=Quick%0D%1451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVC rs1383180 0.301518 0.3080 0.3472 0.46 6 13 exonic exonic exonic EVC EVC ENSG00000072840 nonsynonymous SNV nonsynonymous SNV unknown EVC:NM_153717:exon12:c.G1727A:p.R576Q, EVC:uc003gil.1:exon12:c.G1727A:p.R576Q, UNKNOWN Het;G>A 1067;60|46 Het;G>A 1381;57|60 Hom;G>A 2539;1|93 N N - 4 58015591 58015591 T C snp ncRNA_intronic LOC255130 rs7663355 0.594848 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic IGFBP7-AS1 LOC255130 ENSG00000245067 Na Na Na Na Na Na Het;T>C 104;4|4 Het;T>C 158;1|5 Hom;T>C 181;0|5 N N - 4 58221648 58221648 A G snp intergenic IGFBP7-AS1 rs1524675 0.563099 0 0 1 0 0 intergenic intergenic intergenic IGFBP7-AS1(dist=150183),LOC101928851(dist=70390) LOC255130(dist=150183),BC034799(dist=70390) ENSG00000243920(dist=2153),ENSG00000248505(dist=70390) Na Na Na Na Na Na Het;A>G 164;2|5 Het;A>G 276;7|9 Hom;A>G 261;0|7 N N - 4 58425541 58425541 C T snp intergenic LOC101928851 rs13104715 0.473842 0 0 1 0 0 intergenic intergenic intergenic LOC101928851(dist=93389),NONE(dist=NONE) BC034799(dist=93389),NONE(dist=NONE) ENSG00000251459(dist=64142),ENSG00000251049(dist=36565) Na Na Na Na Na Na Het;C>T 68;4|3 Het;C>T 70;4|3 Hom;C>T 374;0|11 N N - 4 58931763 58931763 T A snp intergenic LOC101928851 rs59573600 0.240415 0 0 1 0 0 intergenic intergenic intergenic LOC101928851(dist=599611),NONE(dist=NONE) BC034799(dist=599611),NONE(dist=NONE) ENSG00000249831(dist=340942),ENSG00000248660(dist=37550) Na Na Na Na Na Na Het;T>A 55;2|3 Ref Hom;T>A 150;0|6 N N - 4 58984145 58984145 C T snp ncRNA_exonic AC096725.1 rs57920535 0.508387 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928851(dist=651993),NONE(dist=NONE) BC034799(dist=651993),NONE(dist=NONE) ENSG00000249105 Na Na Na Na Na Na Het;C>T 63;13|6 Het;C>T 113;6|8 Hom;C>T 556;0|23 N N - 4 60312678 60312678 T A snp intergenic LOC101928851 rs1588534 0.596645 0 0 1 0 0 intergenic intergenic intergenic LOC101928851(dist=1980526),MIR548AG1(dist=1475659) BC034799(dist=1980526),LPHN3(dist=1754296) ENSG00000249111(dist=270814),ENSG00000199780(dist=86826) Na Na Na Na Na Na Het;T>A 504;30|24 Het;T>A 1178;44|56 Hom;T>A 3320;0|126 N N - 4 60312892 60312892 T C snp intergenic LOC101928851 rs10517463 0.623203 0 0 1 0 0 intergenic intergenic intergenic LOC101928851(dist=1980740),MIR548AG1(dist=1475445) BC034799(dist=1980740),LPHN3(dist=1754082) ENSG00000249111(dist=271028),ENSG00000199780(dist=86612) Na Na Na Na Na Na Het;T>C 95;2|4 Het;T>C 92;2|4 Hom;T>C 128;0|5 N N - 4 61112775 61112777 GGA G indel intergenic NONE rs144992581 0.404153 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),MIR548AG1(dist=675560) NONE(dist=NONE),LPHN3(dist=954197) ENSG00000201775(dist=412890),ENSG00000216027(dist=416890) Na Na Na Na Na Na Het;-GA 264;20|11 Het;-GA 802;25|29 Hom;-GA 1785;0|53 N N - 4 6228524 6228524 T G snp ncRNA_intronic AC113615.1 rs6414628 0.645168 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC285484 LOC285484 ENSG00000249896 Na Na Na Na Na Na Het;T>G 223;4|8 Ref Hom;T>G 234;0|7 N N - 4 6228803 6228803 G A snp ncRNA_intronic AC113615.1 rs6816699 0.633586 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC285484 LOC285484 ENSG00000249896 Na Na Na Na Na Na Het;G>A 276;15|13 Het;G>A 420;13|20 Hom;G>A 727;1|26 N N - 4 62992668 62992668 T TA indel ncRNA_intronic ADGRL3-AS1 rs35014003 0.76238 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic ADGRL3-AS1 BC039452(dist=48617),NONE(dist=NONE) ENSG00000248692 Na Na Na Na Na Na Het;+A 55;3|4 Het;+A 33;2|3 Hom;+A 243;0|9 N N - 4 64523108 64523108 C A snp intergenic ADGRL3-AS1 rs13152793 0.592452 0 0 1 0 0 intergenic intergenic intergenic ADGRL3-AS1(dist=1495625),TECRL(dist=621069) BC039452(dist=1579057),TECRL(dist=621069) ENSG00000250775(dist=163112),ENSG00000205678(dist=617867) Na Na Na Na Na Na Het;C>A 507;39|26 Het;C>A 918;100|53 Hom;C>A 4073;4|163 N N - 4 64573303 64573303 C T snp intergenic ADGRL3-AS1 rs7690053 0.607228 0 0 1 0 0 intergenic intergenic intergenic ADGRL3-AS1(dist=1545820),TECRL(dist=570874) BC039452(dist=1629252),TECRL(dist=570874) ENSG00000250775(dist=213307),ENSG00000205678(dist=567672) Na Na Na Na Na Na Het;C>T 65;4|3 Het;C>T 117;5|5 Hom;C>T 266;0|8 N N - 4 64773209 64773209 G C snp intergenic ADGRL3-AS1 rs13112287 0.684505 0 0 1 0 0 intergenic intergenic intergenic ADGRL3-AS1(dist=1745726),TECRL(dist=370968) BC039452(dist=1829158),TECRL(dist=370968) ENSG00000250775(dist=413213),ENSG00000205678(dist=367766) Na Na Na Na Na Na Het;G>C 43;11|4 Het;G>C 250;17|12 Hom;G>C 1208;0|42 N N - 4 64873012 64873012 T G snp intergenic ADGRL3-AS1 rs36102754 0.460064 0 0 1 0 0 intergenic intergenic intergenic ADGRL3-AS1(dist=1845529),TECRL(dist=271165) BC039452(dist=1928961),TECRL(dist=271165) ENSG00000250775(dist=513016),ENSG00000205678(dist=267963) Na Na Na Na Na Na Het;T>G 208;4|8 Het;T>G 163;4|6 Hom;T>G 264;0|8 N N - 4 64873213 64873213 A T snp intergenic ADGRL3-AS1 rs17082045 0.480431 0 0 1 0 0 intergenic intergenic intergenic ADGRL3-AS1(dist=1845730),TECRL(dist=270964) BC039452(dist=1929162),TECRL(dist=270964) ENSG00000250775(dist=513217),ENSG00000205678(dist=267762) Na Na Na Na Na Na Het;A>T 1283;22|53 Het;A>T 1062;45|51 Hom;A>T 3338;0|126 N N - 4 64873355 64873355 G A snp intergenic ADGRL3-AS1 rs6551804 0.48123 0 0 1 0 0 intergenic intergenic intergenic ADGRL3-AS1(dist=1845872),TECRL(dist=270822) BC039452(dist=1929304),TECRL(dist=270822) ENSG00000250775(dist=513359),ENSG00000205678(dist=267620) Na Na Na Na Na Na Het;G>A 73;1|3 Het;G>A 73;1|3 Hom;G>A 160;0|5 N N - 4 65375128 65375129 CT C indel intergenic TECRL Tecrl ENSG00000205678 trans-2,3-enoyl-CoA reductase like chr4:65140975-65275186 Mucocutaneous Lymph Node Syndrome; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0042761;very long-chain fatty acid biosynthetic process;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA http://www.genecards.org/index.php?path=/Search/keyword/TECRL https://hpo.jax.org/app/browse/search?q=TECRL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617242 http://www.informatics.jax.org/searchtool/Search.do?query=TECRL&submit=Quick%0D%17547ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECRL rs35106092 0.877796 0 0 1 0 0 intergenic intergenic intergenic TECRL(dist=99950),LOC401134(dist=404870) TECRL(dist=99950),LOC401134(dist=404870) ENSG00000250768(dist=76195),ENSG00000251430(dist=97007) Na Na Na Na Na Na Het;-T 205;13|14 Ref Hom;-T 589;0|28 N N - 4 6596360 6596360 G A snp nonsynonymous SNV G958A V320M aliphatic,hydrophobic,neutral hydrophobic,neutral MAN2B2 Man2b2 ENSG00000013288 mannosidase alpha class 2B member 2 chr4:6576902-6625089 longevity; Tobacco Use Disorder Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006517;protein deglycosylation;IBA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0008496;mannan endo-1,6-alpha-mannosidase activity;TAS|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B2 https://www.uniprot.org/uniprot/Q9Y2E5 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B2&submit=Quick%0D%588ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B2 rs2301795 0.455471 0.4909 0.4951 0.15 2 13 exonic exonic exonic MAN2B2 MAN2B2 ENSG00000013288 nonsynonymous SNV nonsynonymous SNV unknown MAN2B2:NM_015274:exon7:c.G958A:p.V320M,MAN2B2:NM_001292038:exon7:c.G805A:p.V269M, MAN2B2:uc003gje.1:exon7:c.G958A:p.V320M,MAN2B2:uc011bwf.1:exon7:c.G805A:p.V269M,MAN2B2:uc003gjf.1:exon7:c.G958A:p.V320M, UNKNOWN Het;G>A 1575;94|73 Het;G>A 1671;73|80 Hom;G>A 4092;0|152 N N - 4 6596552 6596552 C T snp intronic MAN2B2 Man2b2 ENSG00000013288 mannosidase alpha class 2B member 2 chr4:6576902-6625089 longevity; Tobacco Use Disorder Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006517;protein deglycosylation;IBA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;IBA|GO:0008270;zinc ion binding;IEA|GO:0008496;mannan endo-1,6-alpha-mannosidase activity;TAS|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B2 https://www.uniprot.org/uniprot/Q9Y2E5 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B2&submit=Quick%0D%588ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B2 rs2301793 0.455272 0 0 1 0 0 intronic intronic intronic MAN2B2 MAN2B2 ENSG00000013288 Na Na Na Na Na Na Het;C>T 184;10|8 Het;C>T 252;3|9 Hom;C>T 578;0|18 N N - 4 66218728 66218728 C T snp intronic EPHA5 Epha5 ENSG00000145242 EPH receptor A5 chr4:66185281-66536213 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] HIV-1; Echocardiography; Tobacco Use Disorder Homozygous mutant mice are overtly normal but show abnormal retinal axon mapping. EPH-ephrin mediated repulsion of cells GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;ISS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019933;cAMP-mediated signaling;ISS|GO:0021766;hippocampus development;ISS|GO:0032793;positive regulation of CREB transcription factor activity;ISS|GO:0032956;regulation of actin cytoskeleton organization;ISS|GO:0043087;regulation of GTPase activity;ISS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048666;neuron development;IEP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IEA|GO:1904322;cellular response to forskolin;IEA GO:0005791;rough endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0005912;adherens junction;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IDA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0071944;cell periphery;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005003;ephrin receptor activity;ISS|GO:0005004;GPI-linked ephrin receptor activity;ISS|GO:0005005;transmembrane-ephrin receptor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPHA5 https://www.uniprot.org/uniprot/P54756 https://www.ncbi.nlm.nih.gov/omim/?term=600004 http://www.informatics.jax.org/searchtool/Search.do?query=EPHA5&submit=Quick%0D%8711ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHA5 rs3792649 0.658746 0.6237 0.6847 1 0 0 intronic intronic intronic EPHA5 EPHA5 ENSG00000145242 Na Na Na Na Na Na Het;C>T 233;11|13 Het;C>T 676;29|30 Hom;C>T 1820;0|68 N N - 4 67142620 67142620 G A snp ncRNA_exonic MIR1269A rs73239138 0.394169 0.3630 0.2869 1 0 0 ncRNA_exonic intergenic ncRNA_exonic MIR1269A TRNA(dist=211450),U6(dist=620360) ENSG00000221563 Na Na Na Na Na Na Het;G>A 393;10|16 Het;G>A 596;15|25 Hom;G>A 1022;2|38 N N - 4 67142703 67142703 G C snp downstream MIR1269A rs34321123 0.117212 0 0 1 0 0 downstream intergenic downstream MIR1269A TRNA(dist=211533),U6(dist=620277) ENSG00000221563 Na Na Na Na Na Na Het;G>C 111;2|4 Ref Hom;G>C 88;0|3 N N - 4 6752631 6752631 C T snp intergenic BLOC1S4 Bloc1s4 ENSG00000186222 biogenesis of lysosomal organelles complex 1 subunit 4 chr4:6717842-6719387 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] Pancreatic Neoplasms Homozygous mutant animals exhibit a very dilute coat and eye color due to a reduced number of melanosomes. 75% of homozygous mutant animals exhibit some form of posture or balance abnormality, with variable severity. Platelet dense bodies are markedly deficient leading to prolonged bleeding. Golgi Associated Vesicle Biogenesis GO:0008089;anterograde axonal transport;IEA|GO:0031175;neuron projection development;ISS|GO:0032438;melanosome organization;NAS|GO:0046907;intracellular transport;IBA|GO:0048490;anterograde synaptic vesicle transport;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0070527;platelet aggregation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031083;BLOC-1 complex;IDA|GO:1904115;axon cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BLOC1S4 https://www.ncbi.nlm.nih.gov/omim/?term=605695 http://www.informatics.jax.org/searchtool/Search.do?query=BLOC1S4&submit=Quick%0D%15599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLOC1S4 rs11942970 0.961062 0 0 1 0 0 intergenic intergenic intergenic BLOC1S4(dist=33244),KIAA0232(dist=31828) BLOC1S4(dist=33244),KIAA0232(dist=31828) ENSG00000186222(dist=33244),ENSG00000170871(dist=31738) Na Na Na Na Na Na Het;C>T 37;5|3 Ref Hom;C>T 146;0|5 N N - 4 68436883 68436883 T C snp intronic STAP1 Stap1 ENSG00000035720 signal transducing adaptor family member 1 chr4:68424446-68473055 The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Parkinson Disease; Hemoglobin A, Glycosylated; Parkinson's disease ; Tobacco Use Disorder GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0010760;negative regulation of macrophage chemotaxis;ISS|GO:0042326;negative regulation of phosphorylation;ISS|GO:0050861;positive regulation of B cell receptor signaling pathway;IDA|GO:0060100;positive regulation of phagocytosis, engulfment;ISS|GO:0071222;cellular response to lipopolysaccharide;ISS|GO:1900028;negative regulation of ruffle assembly;ISS|GO:1902227;negative regulation of macrophage colony-stimulating factor signaling pathway;ISS|GO:1903980;positive regulation of microglial cell activation;ISS|GO:1903997;positive regulation of non-membrane spanning protein tyrosine kinase activity;IDA|GO:1904140;negative regulation of microglial cell migration;IEA|GO:1904151;positive regulation of microglial cell mediated cytotoxicity;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;ISS|GO:0005070;SH3/SH2 adaptor activity;IPI|GO:0005157;macrophage colony-stimulating factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;NAS|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STAP1 https://www.uniprot.org/uniprot/Q9ULZ2 https://www.ncbi.nlm.nih.gov/omim/?term=604298 http://www.informatics.jax.org/searchtool/Search.do?query=STAP1&submit=Quick%0D%775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAP1 rs13111555 0.691294 0.8616 0.8056 1 0 0 intronic intronic intronic STAP1 STAP1 ENSG00000035720 Na Na Na Na Na Na Het;T>C 1383;61|60 Het;T>C 1804;53|79 Hom;T>C 3844;0|142 N N - 4 68458937 68458937 G C snp intronic STAP1 Stap1 ENSG00000035720 signal transducing adaptor family member 1 chr4:68424446-68473055 The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Parkinson Disease; Hemoglobin A, Glycosylated; Parkinson's disease ; Tobacco Use Disorder GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0010760;negative regulation of macrophage chemotaxis;ISS|GO:0042326;negative regulation of phosphorylation;ISS|GO:0050861;positive regulation of B cell receptor signaling pathway;IDA|GO:0060100;positive regulation of phagocytosis, engulfment;ISS|GO:0071222;cellular response to lipopolysaccharide;ISS|GO:1900028;negative regulation of ruffle assembly;ISS|GO:1902227;negative regulation of macrophage colony-stimulating factor signaling pathway;ISS|GO:1903980;positive regulation of microglial cell activation;ISS|GO:1903997;positive regulation of non-membrane spanning protein tyrosine kinase activity;IDA|GO:1904140;negative regulation of microglial cell migration;IEA|GO:1904151;positive regulation of microglial cell mediated cytotoxicity;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;ISS|GO:0005070;SH3/SH2 adaptor activity;IPI|GO:0005157;macrophage colony-stimulating factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;NAS|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STAP1 https://www.uniprot.org/uniprot/Q9ULZ2 https://www.ncbi.nlm.nih.gov/omim/?term=604298 http://www.informatics.jax.org/searchtool/Search.do?query=STAP1&submit=Quick%0D%775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAP1 rs3816821 0.48742 0.4290 0.5127 1 0 0 intronic intronic intronic STAP1 STAP1 ENSG00000035720 Na Na Na Na Na Na Het;G>C 824;42|36 Het;G>C 929;25|36 Hom;G>C 1806;0|61 N N - 4 68620957 68620957 T C snp ncRNA_exonic UBA6-AS1 rs6552113 0.466254 0 0 1 0 0 UTR5 UTR5 ncRNA_exonic GNRHR(NM_000406:c.-904A>G,NM_001012763:c.-904A>G) GNRHR(uc003hdm.3:c.-904A>G,uc003hdn.3:c.-904A>G) ENSG00000248049 Na Na Na Na Na Na Het;T>C 1796;39|65 Het;T>C 1076;52|46 Hom;T>C 3403;0|120 N N - 4 68621197 68621197 A G snp UTR5 -1144T>C GNRHR Gnrhr ENSG00000109163 gonadotropin releasing hormone receptor chr4:68605046-68620078 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] Blood Pressure Determination; Forced Expiratory Volume; hypogonadism; breast cancer|prostate cancer; Hip; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Amenorrhea|Hypogonadism|Hypothalamic Diseases; epithelial ovarian cancer ; several psychiatric disorders; prostate cancer | breast cancer ; hypogonaotropic hypogonadism; puberty onset; Bone Mineral Density; hypogonadotropic hypogonadism Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0097211;cellular response to gonadotropin-releasing hormone;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004968;gonadotropin-releasing hormone receptor activity;TAS|GO:0016500;protein-hormone receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GNRHR https://www.uniprot.org/uniprot/P30968 https://hpo.jax.org/app/browse/search?q=GNRHR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138850 http://www.informatics.jax.org/searchtool/Search.do?query=GNRHR&submit=Quick%0D%3824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNRHR rs2062303 0.441693 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic GNRHR(NM_000406:c.-1144T>C,NM_001012763:c.-1144T>C) GNRHR(uc003hdm.3:c.-1144T>C,uc003hdn.3:c.-1144T>C) ENSG00000248049 Na Na Na Na Na Na Het;A>G 2188;63|87 Het;A>G 1684;71|69 Hom;A>G 3977;1|140 N N - 4 68621308 68621308 A G snp UTR5 -1255T>C GNRHR Gnrhr ENSG00000109163 gonadotropin releasing hormone receptor chr4:68605046-68620078 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] Blood Pressure Determination; Forced Expiratory Volume; hypogonadism; breast cancer|prostate cancer; Hip; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Amenorrhea|Hypogonadism|Hypothalamic Diseases; epithelial ovarian cancer ; several psychiatric disorders; prostate cancer | breast cancer ; hypogonaotropic hypogonadism; puberty onset; Bone Mineral Density; hypogonadotropic hypogonadism Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0097211;cellular response to gonadotropin-releasing hormone;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004968;gonadotropin-releasing hormone receptor activity;TAS|GO:0016500;protein-hormone receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GNRHR https://www.uniprot.org/uniprot/P30968 https://hpo.jax.org/app/browse/search?q=GNRHR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138850 http://www.informatics.jax.org/searchtool/Search.do?query=GNRHR&submit=Quick%0D%3824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNRHR rs2062302 0.466853 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic GNRHR(NM_000406:c.-1255T>C,NM_001012763:c.-1255T>C) GNRHR(uc003hdm.3:c.-1255T>C,uc003hdn.3:c.-1255T>C) ENSG00000248049 Na Na Na Na Na Na Het;A>G 2062;69|62 Het;A>G 1884;69|54 Hom;A>G 5365;0|134 N N - 4 68621332 68621332 C T snp UTR5 -1279G>A GNRHR Gnrhr ENSG00000109163 gonadotropin releasing hormone receptor chr4:68605046-68620078 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] Blood Pressure Determination; Forced Expiratory Volume; hypogonadism; breast cancer|prostate cancer; Hip; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Amenorrhea|Hypogonadism|Hypothalamic Diseases; epithelial ovarian cancer ; several psychiatric disorders; prostate cancer | breast cancer ; hypogonaotropic hypogonadism; puberty onset; Bone Mineral Density; hypogonadotropic hypogonadism Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0097211;cellular response to gonadotropin-releasing hormone;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004968;gonadotropin-releasing hormone receptor activity;TAS|GO:0016500;protein-hormone receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GNRHR https://www.uniprot.org/uniprot/P30968 https://hpo.jax.org/app/browse/search?q=GNRHR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138850 http://www.informatics.jax.org/searchtool/Search.do?query=GNRHR&submit=Quick%0D%3824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNRHR rs2062301 0.465855 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic GNRHR(NM_000406:c.-1279G>A,NM_001012763:c.-1279G>A) GNRHR(uc003hdm.3:c.-1279G>A,uc003hdn.3:c.-1279G>A) ENSG00000248049 Na Na Na Na Na Na Het;C>T 1688;61|48 Het;C>T 1822;62|52 Hom;C>T 4893;0|116 N N - 4 68621550 68621550 G A snp UTR5 -1497C>T GNRHR Gnrhr ENSG00000109163 gonadotropin releasing hormone receptor chr4:68605046-68620078 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] Blood Pressure Determination; Forced Expiratory Volume; hypogonadism; breast cancer|prostate cancer; Hip; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Amenorrhea|Hypogonadism|Hypothalamic Diseases; epithelial ovarian cancer ; several psychiatric disorders; prostate cancer | breast cancer ; hypogonaotropic hypogonadism; puberty onset; Bone Mineral Density; hypogonadotropic hypogonadism Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0097211;cellular response to gonadotropin-releasing hormone;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004968;gonadotropin-releasing hormone receptor activity;TAS|GO:0016500;protein-hormone receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GNRHR https://www.uniprot.org/uniprot/P30968 https://hpo.jax.org/app/browse/search?q=GNRHR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138850 http://www.informatics.jax.org/searchtool/Search.do?query=GNRHR&submit=Quick%0D%3824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNRHR rs13138607 0.466054 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic GNRHR(NM_000406:c.-1497C>T,NM_001012763:c.-1497C>T) GNRHR(uc003hdm.3:c.-1497C>T,uc003hdn.3:c.-1497C>T) ENSG00000248049 Na Na Na Na Na Na Het;G>A 311;17|14 Het;G>A 392;22|19 Hom;G>A 1063;0|41 N N - 4 68621585 68621586 CA C indel UTR5 -1532_-1533delinsG GNRHR Gnrhr ENSG00000109163 gonadotropin releasing hormone receptor chr4:68605046-68620078 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] Blood Pressure Determination; Forced Expiratory Volume; hypogonadism; breast cancer|prostate cancer; Hip; Hypogonadism|Kallmann Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Amenorrhea|Hypogonadism|Hypothalamic Diseases; epithelial ovarian cancer ; several psychiatric disorders; prostate cancer | breast cancer ; hypogonaotropic hypogonadism; puberty onset; Bone Mineral Density; hypogonadotropic hypogonadism Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007275;multicellular organism development;TAS|GO:0097211;cellular response to gonadotropin-releasing hormone;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004968;gonadotropin-releasing hormone receptor activity;TAS|GO:0016500;protein-hormone receptor activity;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/GNRHR https://www.uniprot.org/uniprot/P30968 https://hpo.jax.org/app/browse/search?q=GNRHR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138850 http://www.informatics.jax.org/searchtool/Search.do?query=GNRHR&submit=Quick%0D%3824ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNRHR rs34993359 0.467452 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic GNRHR(NM_000406:c.-1532_-1533delinsG,NM_001012763:c.-1532_-1533delinsG) GNRHR(uc003hdm.3:c.-1532_-1533delinsG,uc003hdn.3:c.-1532_-1533delinsG) ENSG00000248049 Na Na Na Na Na Na Het;-A 342;20|20 Het;-A 383;24|22 Hom;-A 1262;2|54 N N - 4 6998262 6998262 T TA indel ncRNA_intronic AC097382.1 rs11374636 0 0 0 1 0 0 intronic intronic ncRNA_intronic TBC1D14 TBC1D14 ENSG00000187904 Na Na Na Na Na Na Het;+A 107;3|7 Ref Hom;+A 107;0|7 N N - 4 70048146 70048146 G A snp ncRNA_intronic AC111000.4 rs6813586 0.902955 0 0 1 0 0 intergenic intergenic ncRNA_intronic UGT2B7(dist=69441),UGT2B11(dist=17905) UGT2B7(dist=69441),UGT2B11(dist=17905) ENSG00000250696 Na Na Na Na Na Na Het;G>A 146;8|7 Het;G>A 1347;15|33 Hom;G>A 1441;0|39 N N - 4 71062256 71062256 C T snp UTR5 -5C>T ODAM Odam ENSG00000109205 odontogenic, ameloblast asssociated chr4:71062213-71070293 Blood Pressure Determination Amyloid fiber formation GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006954;inflammatory response;IDA|GO:0009611;response to wounding;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0031214;biomineral tissue development;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0060054;positive regulation of epithelial cell proliferation involved in wound healing;IEP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0071944;cell periphery;IDA|GO:0099512;supramolecular fiber;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ODAM https://www.uniprot.org/uniprot/A1E959 https://www.ncbi.nlm.nih.gov/omim/?term=614843 http://www.informatics.jax.org/searchtool/Search.do?query=ODAM&submit=Quick%0D%3832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODAM rs3756132 0.283347 0.2527 0.3264 1 0 0 UTR5 UTR5 UTR5 ODAM(NM_017855:c.-5C>T) ODAM(uc003hfc.3:c.-5C>T) ENSG00000109205(ENST00000396094:c.-5C>T,ENST00000510709:c.-5C>T) Na Na Na Na Na Na Het;C>T 462;40|21 Het;C>T 460;35|23 Hom;C>T 1901;0|69 N N - 4 71062342 71062342 C T snp intronic ODAM Odam ENSG00000109205 odontogenic, ameloblast asssociated chr4:71062213-71070293 Blood Pressure Determination Amyloid fiber formation GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006954;inflammatory response;IDA|GO:0009611;response to wounding;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0031214;biomineral tissue development;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0060054;positive regulation of epithelial cell proliferation involved in wound healing;IEP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0071944;cell periphery;IDA|GO:0099512;supramolecular fiber;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ODAM https://www.uniprot.org/uniprot/A1E959 https://www.ncbi.nlm.nih.gov/omim/?term=614843 http://www.informatics.jax.org/searchtool/Search.do?query=ODAM&submit=Quick%0D%3832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODAM rs3756131 0.288538 0.2561 0.2998 1 0 0 intronic intronic intronic ODAM ODAM ENSG00000109205 Na Na Na Na Na Na Het;C>T 1019;72|52 Het;C>T 1249;77|62 Hom;C>T 4122;2|163 N N - 4 71062426 71062426 C T snp synonymous SNV C69T L23L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ODAM Odam ENSG00000109205 odontogenic, ameloblast asssociated chr4:71062213-71070293 Blood Pressure Determination Amyloid fiber formation GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006954;inflammatory response;IDA|GO:0009611;response to wounding;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0031214;biomineral tissue development;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0060054;positive regulation of epithelial cell proliferation involved in wound healing;IEP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0071944;cell periphery;IDA|GO:0099512;supramolecular fiber;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ODAM https://www.uniprot.org/uniprot/A1E959 https://www.ncbi.nlm.nih.gov/omim/?term=614843 http://www.informatics.jax.org/searchtool/Search.do?query=ODAM&submit=Quick%0D%3832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODAM rs17704351 0.288538 0.2564 0.2938 1 0 0 exonic exonic exonic ODAM ODAM ENSG00000109205 synonymous SNV synonymous SNV unknown ODAM:NM_017855:exon2:c.C69T:p.L23L, ODAM:uc003hfc.3:exon2:c.C69T:p.L23L, UNKNOWN Het;C>T 815;48|41 Het;C>T 888;71|46 Hom;C>T 2777;2|102 N N - 4 71068489 71068489 T C snp nonsynonymous SNV T665C I222T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ODAM Odam ENSG00000109205 odontogenic, ameloblast asssociated chr4:71062213-71070293 Blood Pressure Determination Amyloid fiber formation GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006954;inflammatory response;IDA|GO:0009611;response to wounding;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0031214;biomineral tissue development;IEA|GO:0032956;regulation of actin cytoskeleton organization;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0060054;positive regulation of epithelial cell proliferation involved in wound healing;IEP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0071944;cell periphery;IDA|GO:0099512;supramolecular fiber;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ODAM https://www.uniprot.org/uniprot/A1E959 https://www.ncbi.nlm.nih.gov/omim/?term=614843 http://www.informatics.jax.org/searchtool/Search.do?query=ODAM&submit=Quick%0D%3832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODAM rs3196714 0.283746 0.2546 0.2931 0.08 1 13 exonic exonic exonic ODAM ODAM ENSG00000109205 nonsynonymous SNV nonsynonymous SNV unknown ODAM:NM_017855:exon9:c.T665C:p.I222T, ODAM:uc003hfc.3:exon9:c.T665C:p.I222T, UNKNOWN Het;T>C 339;24|14 Het;T>C 582;22|27 Hom;T>C 1477;0|55 N N - 4 72397964 72397964 T C snp intronic SLC4A4 Slc4a4 ENSG00000080493 solute carrier family 4 member 4 chr4:72053003-72437804 This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] cystic fibrosis; Type 2 Diabetes| edema | rosiglitazone; Glomerular Filtration Rate; Bone Density; Hemoglobin A, Glycosylated; Heart Rate; Cholesterol, HDL Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate. Bicarbonate transporters GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IDA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;IEA|GO:0005515;protein binding;IPI|GO:0008509;anion transmembrane transporter activity;IEA|GO:0008510;sodium:bicarbonate symporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC4A4 https://www.uniprot.org/uniprot/Q9Y6R1 https://hpo.jax.org/app/browse/search?q=SLC4A4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603345 http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A4&submit=Quick%0D%1729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A4 rs10446504 0.709864 0 0 1 0 0 intronic intronic intronic SLC4A4 SLC4A4 ENSG00000080493 Na Na Na Na Na Na Het;T>C 529;36|23 Het;T>C 1026;45|47 Hom;T>C 2752;0|98 N N - 4 72618323 72618323 G T snp nonsynonymous SNV C1307A T436K polar,hydrophilic,neutral polar,hydrophilic,charged(+) GC Gc ENSG00000145321 GC, vitamin D binding protein chr4:72607410-72669758 The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Coronary Artery Disease|Inflammation; asthma; body mass bone density glucose; null; Type 2 Diabetes| edema | rosiglitazone; Vitamin D; Type 2 diabetes; fasting plasma insulin levels; body mass C-reactive protein cortisol response insulin; COPD; Recurrence|Venous Thromboembolism; Pulmonary Disease, Chronic Obstructive; lung cancer; Brain Ischemia|Stroke; Erythrocytes; Alzheimer's disease ; Hyperparathyroidism, Secondary; chronic obstructive pulmonary disease; oral glucose tolerance; breast cancer; rheumatoid arthritis; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; Calcinosis|Coronary Artery Disease; diabetes, type 2; bone density; breast cancer ; cirrhosis, alcoholic; lung function; Graves disease; multiple sclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; bladder cancer; Asthma|; Bone Mineral Density; bone mineral density; Dengue Hemorrhagic Fever; lung function; PAH metabolites, urinary; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; tuberculosis; Migraine Disorders; chronic obstructive pulmonary disease/COPD; osteoporosis, postmenopausal; prostate cancer; Vitamin D Deficiency; lung cancer Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. Vitamin D (calciferol) metabolism GO:0006810;transport;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0051180;vitamin transport;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0003779;actin binding;IEA|GO:0005499;vitamin D binding;TAS|GO:0051183;vitamin transporter activity;IEA|GO:1902118;calcidiol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GC https://www.uniprot.org/uniprot/P02774 https://www.ncbi.nlm.nih.gov/omim/?term=139200 http://www.informatics.jax.org/searchtool/Search.do?query=GC&submit=Quick%0D%8721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GC rs4588 0.207867 0.2273 0.2528 0.08 1 12 exonic exonic exonic GC GC ENSG00000145321 nonsynonymous SNV nonsynonymous SNV unknown GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K, GC:uc021xpb.1:exon12:c.C1307A:p.T436K,GC:uc003hge.3:exon11:c.C1307A:p.T436K,GC:uc010iif.3:exon12:c.C1364A:p.T455K, UNKNOWN Het;G>T 673;55|31 Het;G>T 421;42|25 Hom;G>T 3402;1|128 N N - 4 72769633 72769633 C T snp intergenic GC Gc ENSG00000145321 GC, vitamin D binding protein chr4:72607410-72669758 The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Coronary Artery Disease|Inflammation; asthma; body mass bone density glucose; null; Type 2 Diabetes| edema | rosiglitazone; Vitamin D; Type 2 diabetes; fasting plasma insulin levels; body mass C-reactive protein cortisol response insulin; COPD; Recurrence|Venous Thromboembolism; Pulmonary Disease, Chronic Obstructive; lung cancer; Brain Ischemia|Stroke; Erythrocytes; Alzheimer's disease ; Hyperparathyroidism, Secondary; chronic obstructive pulmonary disease; oral glucose tolerance; breast cancer; rheumatoid arthritis; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; Calcinosis|Coronary Artery Disease; diabetes, type 2; bone density; breast cancer ; cirrhosis, alcoholic; lung function; Graves disease; multiple sclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; bladder cancer; Asthma|; Bone Mineral Density; bone mineral density; Dengue Hemorrhagic Fever; lung function; PAH metabolites, urinary; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; tuberculosis; Migraine Disorders; chronic obstructive pulmonary disease/COPD; osteoporosis, postmenopausal; prostate cancer; Vitamin D Deficiency; lung cancer Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. Vitamin D (calciferol) metabolism GO:0006810;transport;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0051180;vitamin transport;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0003779;actin binding;IEA|GO:0005499;vitamin D binding;TAS|GO:0051183;vitamin transporter activity;IEA|GO:1902118;calcidiol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GC https://www.uniprot.org/uniprot/P02774 https://www.ncbi.nlm.nih.gov/omim/?term=139200 http://www.informatics.jax.org/searchtool/Search.do?query=GC&submit=Quick%0D%8721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GC rs1520508 0.716454 0 0 1 0 0 intergenic intergenic intergenic GC(dist=98396),NPFFR2(dist=127888) GC(dist=98396),NPFFR2(dist=127888) ENSG00000248567(dist=79936),ENSG00000056291(dist=127888) Na Na Na Na Na Na Het;C>T 356;39|18 Het;C>T 933;49|42 Hom;C>T 2057;2|75 N N - 4 72774365 72774365 T A snp intergenic GC Gc ENSG00000145321 GC, vitamin D binding protein chr4:72607410-72669758 The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] Coronary Artery Disease|Inflammation; asthma; body mass bone density glucose; null; Type 2 Diabetes| edema | rosiglitazone; Vitamin D; Type 2 diabetes; fasting plasma insulin levels; body mass C-reactive protein cortisol response insulin; COPD; Recurrence|Venous Thromboembolism; Pulmonary Disease, Chronic Obstructive; lung cancer; Brain Ischemia|Stroke; Erythrocytes; Alzheimer's disease ; Hyperparathyroidism, Secondary; chronic obstructive pulmonary disease; oral glucose tolerance; breast cancer; rheumatoid arthritis; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; Calcinosis|Coronary Artery Disease; diabetes, type 2; bone density; breast cancer ; cirrhosis, alcoholic; lung function; Graves disease; multiple sclerosis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; bladder cancer; Asthma|; Bone Mineral Density; bone mineral density; Dengue Hemorrhagic Fever; lung function; PAH metabolites, urinary; Alzheimer's disease; chronic obstructive pulmonary disease/COPD; tuberculosis; Migraine Disorders; chronic obstructive pulmonary disease/COPD; osteoporosis, postmenopausal; prostate cancer; Vitamin D Deficiency; lung cancer Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. Vitamin D (calciferol) metabolism GO:0006810;transport;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0051180;vitamin transport;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0003779;actin binding;IEA|GO:0005499;vitamin D binding;TAS|GO:0051183;vitamin transporter activity;IEA|GO:1902118;calcidiol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GC https://www.uniprot.org/uniprot/P02774 https://www.ncbi.nlm.nih.gov/omim/?term=139200 http://www.informatics.jax.org/searchtool/Search.do?query=GC&submit=Quick%0D%8721ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GC rs9994658 0.430312 0 0 1 0 0 intergenic intergenic intergenic GC(dist=103128),NPFFR2(dist=123156) GC(dist=103128),NPFFR2(dist=123156) ENSG00000248567(dist=84668),ENSG00000056291(dist=123156) Na Na Na Na Na Na Het;T>A 73;6|5 Ref Hom;T>A 120;0|6 N N - 4 73063451 73063451 T C snp intergenic NPFFR2 Npffr2 ENSG00000056291 neuropeptide FF receptor 2 chr4:72897521-73013784 This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] leanness obesity Mice homozygous for a knock-out allele exhibit increased litter size and sex-specific increased susceptibility to diet-induced obesity and adipose accumulation, impaired diet-induced thermogenesis, and altered bone thickness. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007218;neuropeptide signaling pathway;IEA|GO:0009582;detection of abiotic stimulus;TAS|GO:0032870;cellular response to hormone stimulus;IBA|GO:0043408;regulation of MAPK cascade;IEA|GO:0045761;regulation of adenylate cyclase activity;IEA|GO:1901652;response to peptide;IBA|GO:2000479;regulation of cAMP-dependent protein kinase activity;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0008188;neuropeptide receptor activity;IEA|GO:0031628;opioid receptor binding;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NPFFR2 https://www.uniprot.org/uniprot/Q9Y5X5 https://www.ncbi.nlm.nih.gov/omim/?term=607449 http://www.informatics.jax.org/searchtool/Search.do?query=NPFFR2&submit=Quick%0D%1008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPFFR2 rs1121771 0.547923 0 0 1 0 0 intergenic intergenic intergenic NPFFR2(dist=49533),ADAMTS3(dist=83235) NPFFR2(dist=49533),ADAMTS3(dist=83235) ENSG00000056291(dist=49667),ENSG00000156140(dist=83235) Na Na Na Na Na Na Het;T>C 86;14|5 Het;T>C 84;6|6 Hom;T>C 650;0|23 N N - 4 73063574 73063574 A G snp intergenic NPFFR2 Npffr2 ENSG00000056291 neuropeptide FF receptor 2 chr4:72897521-73013784 This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] leanness obesity Mice homozygous for a knock-out allele exhibit increased litter size and sex-specific increased susceptibility to diet-induced obesity and adipose accumulation, impaired diet-induced thermogenesis, and altered bone thickness. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007218;neuropeptide signaling pathway;IEA|GO:0009582;detection of abiotic stimulus;TAS|GO:0032870;cellular response to hormone stimulus;IBA|GO:0043408;regulation of MAPK cascade;IEA|GO:0045761;regulation of adenylate cyclase activity;IEA|GO:1901652;response to peptide;IBA|GO:2000479;regulation of cAMP-dependent protein kinase activity;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0008188;neuropeptide receptor activity;IEA|GO:0031628;opioid receptor binding;IEA|GO:0042277;peptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NPFFR2 https://www.uniprot.org/uniprot/Q9Y5X5 https://www.ncbi.nlm.nih.gov/omim/?term=607449 http://www.informatics.jax.org/searchtool/Search.do?query=NPFFR2&submit=Quick%0D%1008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPFFR2 rs10016284 0.552516 0 0 1 0 0 intergenic intergenic intergenic NPFFR2(dist=49656),ADAMTS3(dist=83112) NPFFR2(dist=49656),ADAMTS3(dist=83112) ENSG00000056291(dist=49790),ENSG00000156140(dist=83112) Na Na Na Na Na Na Het;A>G 450;22|22 Het;A>G 128;6|8 Hom;A>G 1187;0|42 N N - 4 74281012 74281012 T A snp intronic ALB Alb ENSG00000163631 albumin chr4:74262831-74287129 This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016] diabetes, type 2; liver disease; attention deficit disorder conduct disorder oppositional defiant disorder; C-Reactive Protein; Alzheimer's disease Mice homozygous for a TALEN-mediated deletion exhibit analbuminemia but appear healthy and grossly normal and breed normally. Mice heterozygotes for an ENU-induced point mutation have significantly reduced plasma albumin and calcium levels and significantly elevated alkaline phosphatase activity. HDL remodeling GO:0001895;retina homeostasis;IEP|GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0009267;cellular response to starvation;IDA|GO:0015721;bile acid and bile salt transport;TAS|GO:0019836;hemolysis by symbiont of host erythrocytes;IDA|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043069;negative regulation of programmed cell death;NAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051659;maintenance of mitochondrion location;IDA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0003677;DNA binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005507;copper ion binding;NAS|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0008289;lipid binding;IEA|GO:0015643;toxic substance binding;IDA|GO:0016209;antioxidant activity;NAS|GO:0019825;oxygen binding;IDA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALB https://hpo.jax.org/app/browse/search?q=ALB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=103600 http://www.informatics.jax.org/searchtool/Search.do?query=ALB&submit=Quick%0D%11036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALB rs6832260 0.482827 0 0 1 0 0 intronic intronic intronic ALB ALB ENSG00000163631 Na Na Na Na Na Na Het;T>A 90;4|4 Het;T>A 128;5|5 Hom;T>A 119;0|4 N N - 4 74285239 74285239 C T snp synonymous SNV C1668T L556L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ALB Alb ENSG00000163631 albumin chr4:74262831-74287129 This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016] diabetes, type 2; liver disease; attention deficit disorder conduct disorder oppositional defiant disorder; C-Reactive Protein; Alzheimer's disease Mice homozygous for a TALEN-mediated deletion exhibit analbuminemia but appear healthy and grossly normal and breed normally. Mice heterozygotes for an ENU-induced point mutation have significantly reduced plasma albumin and calcium levels and significantly elevated alkaline phosphatase activity. HDL remodeling GO:0001895;retina homeostasis;IEP|GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0009267;cellular response to starvation;IDA|GO:0015721;bile acid and bile salt transport;TAS|GO:0019836;hemolysis by symbiont of host erythrocytes;IDA|GO:0034375;high-density lipoprotein particle remodeling;TAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043069;negative regulation of programmed cell death;NAS|GO:0043252;sodium-independent organic anion transport;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051659;maintenance of mitochondrion location;IDA|GO:0098869;cellular oxidant detoxification;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0003677;DNA binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005507;copper ion binding;NAS|GO:0005515;protein binding;IPI|GO:0008144;drug binding;IDA|GO:0008289;lipid binding;IEA|GO:0015643;toxic substance binding;IDA|GO:0016209;antioxidant activity;NAS|GO:0019825;oxygen binding;IDA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ALB https://hpo.jax.org/app/browse/search?q=ALB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=103600 http://www.informatics.jax.org/searchtool/Search.do?query=ALB&submit=Quick%0D%11036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALB rs962004 0.483427 0.5183 0.5354 1 0 0 exonic exonic exonic ALB ALB ENSG00000163631 synonymous SNV synonymous SNV unknown ALB:NM_000477:exon13:c.C1668T:p.L556L, ALB:uc011cbf.2:exon12:c.C1338T:p.L446L,ALB:uc003hgs.4:exon13:c.C1668T:p.L556L,ALB:uc003hgw.4:exon9:c.C1092T:p.L364L,ALB:uc011cbe.2:exon13:c.C705T:p.L235L, UNKNOWN Het;C>T 521;52|27 Het;C>T 737;68|38 Hom;C>T 1717;0|64 N N - 4 74302071 74302071 T A snp intronic AFP Afp ENSG00000081051 alpha fetoprotein chr4:74296855-74321891 This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008] alpha-fetoprotein; null Females homozygous for targeted null mutations are sterile due to impairment of the hypothalamic/pituitary system and failure of the estrus cycle resulting in anovulation. Homozygous males are fertile. Post-translational protein phosphorylation GO:0001542;ovulation from ovarian follicle;IEA|GO:0006810;transport;IEA|GO:0019953;sexual reproduction;IEA|GO:0042448;progesterone metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060395;SMAD protein signal transduction;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AFP https://www.uniprot.org/uniprot/P02771 https://hpo.jax.org/app/browse/search?q=AFP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=104150 http://www.informatics.jax.org/searchtool/Search.do?query=AFP&submit=Quick%0D%1756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFP rs3796678 0.5002 0.5257 0.5392 1 0 0 intronic intronic intronic AFP AFP ENSG00000081051 Na Na Na Na Na Na Het;T>A 465;15|23 Het;T>A 604;40|32 Hom;T>A 2637;0|99 N N - 4 74302151 74302151 A T snp intronic AFP Afp ENSG00000081051 alpha fetoprotein chr4:74296855-74321891 This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008] alpha-fetoprotein; null Females homozygous for targeted null mutations are sterile due to impairment of the hypothalamic/pituitary system and failure of the estrus cycle resulting in anovulation. Homozygous males are fertile. Post-translational protein phosphorylation GO:0001542;ovulation from ovarian follicle;IEA|GO:0006810;transport;IEA|GO:0019953;sexual reproduction;IEA|GO:0042448;progesterone metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060395;SMAD protein signal transduction;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AFP https://www.uniprot.org/uniprot/P02771 https://hpo.jax.org/app/browse/search?q=AFP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=104150 http://www.informatics.jax.org/searchtool/Search.do?query=AFP&submit=Quick%0D%1756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFP rs3796677 0.500399 0 0 1 0 0 intronic intronic intronic AFP AFP ENSG00000081051 Na Na Na Na Na Na Het;A>T 107;4|4 Het;A>T 84;9|4 Hom;A>T 491;0|17 N N - 4 74310844 74310844 A G snp intronic AFP Afp ENSG00000081051 alpha fetoprotein chr4:74296855-74321891 This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008] alpha-fetoprotein; null Females homozygous for targeted null mutations are sterile due to impairment of the hypothalamic/pituitary system and failure of the estrus cycle resulting in anovulation. Homozygous males are fertile. Post-translational protein phosphorylation GO:0001542;ovulation from ovarian follicle;IEA|GO:0006810;transport;IEA|GO:0019953;sexual reproduction;IEA|GO:0042448;progesterone metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0060395;SMAD protein signal transduction;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AFP https://www.uniprot.org/uniprot/P02771 https://hpo.jax.org/app/browse/search?q=AFP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=104150 http://www.informatics.jax.org/searchtool/Search.do?query=AFP&submit=Quick%0D%1756ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFP rs2298839 0.51238 0.5246 0.5462 1 0 0 intronic intronic intronic AFP AFP ENSG00000081051 Na Na Na Na Na Na Het;A>G 1584;66|71 Het;A>G 1505;70|69 Hom;A>G 4095;0|145 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7435009 7435009 G A snp UTR3 *32C>T PSAPL1 Psapl1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 rs59409649 0.102835 0.1204 0.1570 1 0 0 UTR3 UTR3 UTR3 PSAPL1(NM_001085382:c.*32C>T) PSAPL1(uc011bwj.2:c.*32C>T) ENSG00000178597(ENST00000319098:c.*32C>T) Na Na Na Na Na Na Het;G>A 637;20|25 Ref Hom;G>A 414;0|13 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7435058 7435058 C T snp nonsynonymous SNV G1549A A517T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PSAPL1 Psapl1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 rs60816800 0.103035 0.1316 0.1869 0.08 1 12 exonic exonic exonic PSAPL1 PSAPL1 ENSG00000178597 nonsynonymous SNV nonsynonymous SNV unknown PSAPL1:NM_001085382:exon1:c.G1549A:p.A517T, PSAPL1:uc011bwj.2:exon1:c.G1549A:p.A517T, UNKNOWN Het;C>T 1349;42|55 Ref Hom;C>T 1436;2|54 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7435486 7435486 G T snp nonsynonymous SNV C1121A A374E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) PSAPL1 Psapl1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 rs61738677 0.0766773 0.1003 0.1107 0.08 1 13 exonic exonic exonic PSAPL1 PSAPL1 ENSG00000178597 nonsynonymous SNV nonsynonymous SNV unknown PSAPL1:NM_001085382:exon1:c.C1121A:p.A374E, PSAPL1:uc011bwj.2:exon1:c.C1121A:p.A374E, UNKNOWN Het;G>T 2835;128|119 Ref Hom;G>T 6911;0|249 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7435721 7435721 C T snp nonsynonymous SNV G886A V296M aliphatic,hydrophobic,neutral hydrophobic,neutral PSAPL1 Psapl1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 rs6850206 0.129193 0.1716 0.1673 0.46 6 13 exonic exonic exonic PSAPL1 PSAPL1 ENSG00000178597 nonsynonymous SNV nonsynonymous SNV unknown PSAPL1:NM_001085382:exon1:c.G886A:p.V296M, PSAPL1:uc011bwj.2:exon1:c.G886A:p.V296M, UNKNOWN Het;C>T 3608;150|155 Ref Hom;C>T 5924;2|218 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7436073 7436073 C T snp synonymous SNV G534A A178A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PSAPL1 Psapl1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 rs61740031 0.127196 0.1701 0.1827 1 0 0 exonic exonic exonic PSAPL1 PSAPL1 ENSG00000178597 synonymous SNV synonymous SNV unknown PSAPL1:NM_001085382:exon1:c.G534A:p.A178A, PSAPL1:uc011bwj.2:exon1:c.G534A:p.A178A, UNKNOWN Het;C>T 1224;83|58 Ref Hom;C>T 3972;0|139 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7436239 7436239 C T snp nonsynonymous SNV G368A R123H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) PSAPL1 Psapl1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 rs56402179 0.103435 0.1397 0.1620 0.17 2 12 exonic exonic exonic PSAPL1 PSAPL1 ENSG00000178597 nonsynonymous SNV nonsynonymous SNV unknown PSAPL1:NM_001085382:exon1:c.G368A:p.R123H, PSAPL1:uc011bwj.2:exon1:c.G368A:p.R123H, UNKNOWN Het;C>T 2014;76|87 Ref Hom;C>T 4443;0|160 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7436701 7436701 C T snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs77191210 0.133786 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>T 177;7|7 Ref Hom;C>T 353;0|10 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7461618 7461618 A G snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs12512597 0.257588 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;A>G 284;8|8 Ref Hom;A>G 370;0|8 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7461625 7461625 G A snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs12500783 0.256989 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;G>A 316;8|9 Ref Hom;G>A 440;0|11 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7461769 7461769 A G snp ncRNA_exonic MIR4274 rs12512664 0.304313 0 0.3907 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MIR4274 MIR4274 ENSG00000266690 Na Na Na Na Na Na Het;A>G 754;53|34 Ref Hom;A>G 2704;0|104 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7486570 7486570 C T snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs55728260 0.167532 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>T 47;16|5 Het;C>T 244;7|13 Hom;C>T 630;0|25 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7492249 7492250 GT G indel intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs59155977 0.498602 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;-T 70;2|4 Ref Hom;-T 160;0|5 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7497464 7497464 G C snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs13119122 0.129193 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;G>C 103;14|6 Het;G>C 240;11|13 Hom;G>C 764;0|27 N N - 4 75245343 75245343 T A snp intronic EREG Ereg ENSG00000124882 epiregulin chr4:75230860-75254468 This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015] ADHD | attention-deficit hyperactivity disorder; Echocardiography Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001550;ovarian cumulus expansion;IEA|GO:0001556;oocyte maturation;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0007143;female meiotic division;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009299;mRNA transcription;IDA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;TAS|GO:0030728;ovulation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042060;wound healing;TAS|GO:0042108;positive regulation of cytokine biosynthetic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042700;luteinizing hormone signaling pathway;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043616;keratinocyte proliferation;IDA|GO:0045089;positive regulation of innate immune response;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;ISS|GO:0045840;positive regulation of mitotic nuclear division;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048160;primary follicle stage;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;TAS|GO:0051151;negative regulation of smooth muscle cell differentiation;IDA|GO:0051781;positive regulation of cell division;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:2000145;regulation of cell motility;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/EREG https://www.uniprot.org/uniprot/O14944 https://www.ncbi.nlm.nih.gov/omim/?term=602061 http://www.informatics.jax.org/searchtool/Search.do?query=EREG&submit=Quick%0D%5729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EREG rs7660209 0.810503 0 0 1 0 0 intronic intronic intronic EREG EREG ENSG00000124882 Na Na Na Na Na Na Het;T>A 216;14|8 Het;T>A 314;15|11 Hom;T>A 636;0|19 N N - 4 75246617 75246617 A T snp intronic EREG Ereg ENSG00000124882 epiregulin chr4:75230860-75254468 This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015] ADHD | attention-deficit hyperactivity disorder; Echocardiography Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001550;ovarian cumulus expansion;IEA|GO:0001556;oocyte maturation;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0007143;female meiotic division;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009299;mRNA transcription;IDA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;TAS|GO:0030728;ovulation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042060;wound healing;TAS|GO:0042108;positive regulation of cytokine biosynthetic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042700;luteinizing hormone signaling pathway;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043616;keratinocyte proliferation;IDA|GO:0045089;positive regulation of innate immune response;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;ISS|GO:0045840;positive regulation of mitotic nuclear division;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048160;primary follicle stage;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;TAS|GO:0051151;negative regulation of smooth muscle cell differentiation;IDA|GO:0051781;positive regulation of cell division;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:2000145;regulation of cell motility;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/EREG https://www.uniprot.org/uniprot/O14944 https://www.ncbi.nlm.nih.gov/omim/?term=602061 http://www.informatics.jax.org/searchtool/Search.do?query=EREG&submit=Quick%0D%5729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EREG rs4694187 0.803714 0 0 1 0 0 intronic intronic intronic EREG EREG ENSG00000124882 Na Na Na Na Na Na Het;A>T 288;5|9 Het;A>T 124;4|6 Hom;A>T 255;0|7 N N - 4 75248434 75248434 A G snp synonymous SNV A351G E117E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) EREG Ereg ENSG00000124882 epiregulin chr4:75230860-75254468 This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015] ADHD | attention-deficit hyperactivity disorder; Echocardiography Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001550;ovarian cumulus expansion;IEA|GO:0001556;oocyte maturation;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0007143;female meiotic division;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009299;mRNA transcription;IDA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;TAS|GO:0030728;ovulation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042060;wound healing;TAS|GO:0042108;positive regulation of cytokine biosynthetic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042700;luteinizing hormone signaling pathway;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043616;keratinocyte proliferation;IDA|GO:0045089;positive regulation of innate immune response;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;ISS|GO:0045840;positive regulation of mitotic nuclear division;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048160;primary follicle stage;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;TAS|GO:0051151;negative regulation of smooth muscle cell differentiation;IDA|GO:0051781;positive regulation of cell division;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:2000145;regulation of cell motility;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/EREG https://www.uniprot.org/uniprot/O14944 https://www.ncbi.nlm.nih.gov/omim/?term=602061 http://www.informatics.jax.org/searchtool/Search.do?query=EREG&submit=Quick%0D%5729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EREG rs2367707 0.767772 0.7781 0.7927 1 0 0 exonic exonic exonic EREG EREG ENSG00000124882 synonymous SNV synonymous SNV unknown EREG:NM_001432:exon4:c.A351G:p.E117E, EREG:uc003hie.1:exon4:c.A351G:p.E117E, UNKNOWN Het;A>G 1444;104|69 Het;A>G 1840;93|85 Hom;A>G 5396;2|202 N N - 4 75248544 75248544 C T snp intronic EREG Ereg ENSG00000124882 epiregulin chr4:75230860-75254468 This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015] ADHD | attention-deficit hyperactivity disorder; Echocardiography Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;IEA|GO:0001550;ovarian cumulus expansion;IEA|GO:0001556;oocyte maturation;IEA|GO:0001819;positive regulation of cytokine production;IEA|GO:0007143;female meiotic division;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009299;mRNA transcription;IDA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;TAS|GO:0030728;ovulation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042060;wound healing;TAS|GO:0042108;positive regulation of cytokine biosynthetic process;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0042700;luteinizing hormone signaling pathway;IEA|GO:0043434;response to peptide hormone;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043616;keratinocyte proliferation;IDA|GO:0045089;positive regulation of innate immune response;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;ISS|GO:0045840;positive regulation of mitotic nuclear division;IEA|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048160;primary follicle stage;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;ISS|GO:0050680;negative regulation of epithelial cell proliferation;TAS|GO:0051151;negative regulation of smooth muscle cell differentiation;IDA|GO:0051781;positive regulation of cell division;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:2000145;regulation of cell motility;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/EREG https://www.uniprot.org/uniprot/O14944 https://www.ncbi.nlm.nih.gov/omim/?term=602061 http://www.informatics.jax.org/searchtool/Search.do?query=EREG&submit=Quick%0D%5729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EREG rs2367708 0.792332 0.8110 0.7998 1 0 0 intronic intronic intronic EREG EREG ENSG00000124882 Na Na Na Na Na Na Het;C>T 611;53|31 Het;C>T 671;38|32 Hom;C>T 2122;0|75 N N - 4 755025 755025 G A snp intronic PCGF3 Pcgf3 ENSG00000185619 polycomb group ring finger 3 chr4:699537-764428 The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008] Body Mass Index; Anticoagulants Mice homozygous for a transgenic gene disruption exhibit limb defects and spleen agenesis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031519;PcG protein complex;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCGF3 https://www.ncbi.nlm.nih.gov/omim/?term=617543 http://www.informatics.jax.org/searchtool/Search.do?query=PCGF3&submit=Quick%0D%15448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCGF3 rs2242233 0.201278 0.2282 0.2526 1 0 0 intronic intronic intronic PCGF3 PCGF3 ENSG00000185619 Na Na Na Na Na Na Het;G>A 913;45|37 Het;G>A 835;38|38 Hom;G>A 1809;2|66 N N - 4 759709 759709 A G snp ncRNA_intronic AC139887.2 rs6810428 0.358826 0 0 1 0 0 intronic intronic ncRNA_intronic PCGF3 PCGF3 ENSG00000249592 Na Na Na Na Na Na Het;A>G 399;8|15 Het;A>G 153;8|6 Hom;A>G 429;0|14 N N - 4 759733 759733 T C snp ncRNA_intronic AC139887.2 rs6816483 0.669928 0 0 1 0 0 intronic intronic ncRNA_intronic PCGF3 PCGF3 ENSG00000249592 Na Na Na Na Na Na Het;T>C 533;15|21 Het;T>C 209;14|8 Hom;T>C 771;0|26 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7652385 7652385 G C snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs57534629 0.209665 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;G>C 126;2|5 Ref Hom;G>C 350;0|13 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7655759 7655759 T A snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs76144997 0.0297524 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;T>A 129;7|5 Ref Hom;T>A 587;1|18 N N - 4 76611851 76611851 T C snp intronic G3BP2 G3bp2 ENSG00000138757 G3BP stress granule assembly factor 2 chr4:76567966-76649709 GO:0006810;transport;IEA|GO:0007253;cytoplasmic sequestering of NF-kappaB;NAS|GO:0007265;Ras protein signal transduction;NAS|GO:0034063;stress granule assembly;IEA|GO:0051028;mRNA transport;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IBA|GO:0030529;intracellular ribonucleoprotein complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/G3BP2 https://www.uniprot.org/uniprot/Q9UN86 http://www.informatics.jax.org/searchtool/Search.do?query=G3BP2&submit=Quick%0D%7790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=G3BP2 rs60945555 0.191693 0 0 1 0 0 intergenic intergenic intronic G3BP2(dist=13184),USO1(dist=37855) G3BP2(dist=13184),AK311578(dist=36846) ENSG00000138757 Na Na Na Na Na Na Het;T>C 196;2|8 Ref Hom;T>C 181;1|8 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7665985 7665985 C T snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs56160934 0.0882588 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>T 496;20|20 Ref Hom;C>T 750;0|23 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7666241 7666241 C T snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs28634313 0.114617 0.1446 0.1870 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>T 641;23|28 Ref Hom;C>T 1336;0|46 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7684641 7684641 C A snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs4689820 0.619409 0.6235 0.6233 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>A 1343;73|64 Ref Hom;C>A 3293;3|122 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7684661 7684661 C A snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs4689821 0.642572 0.0999 0.6243 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>A 1944;57|52 Ref Hom;C>A 3455;4|84 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7684662 7684662 T C snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs4689822 0.642572 0.0850 0.6239 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;T>C 1944;57|51 Ref Hom;T>C 3455;4|80 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7691193 7691193 G C snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs929264 0.755192 0.6657 0.7327 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;G>C 778;73|38 Het;G>C 1115;57|50 Hom;G>C 3080;0|114 N N - 4 76924933 76924933 T C snp ncRNA_intronic AC112719.2 rs10031452 0.698882 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101928809 CXCL9 ENSG00000245928 Na Na Na Na Na Na Het;T>C 1140;64|49 Het;T>C 1847;77|84 Hom;T>C 2627;0|97 N N - 4 76943137 76943137 G C snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4859584 0.691094 0.6110 0.6058 1 0 0 intronic intronic intronic ART3,CXCL10 ART3,CXCL10 ENSG00000156219,ENSG00000169245 Na Na Na Na Na Na Het;G>C 482;22|21 Het;G>C 281;21|14 Hom;G>C 1503;0|58 N N - 4 76943235 76943235 T C snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4859586 0.691294 0 0 1 0 0 intronic intronic intronic ART3,CXCL10 ART3,CXCL10 ENSG00000156219,ENSG00000169245 Na Na Na Na Na Na Het;T>C 149;8|5 Het;T>C 204;1|6 Hom;T>C 440;0|12 N N - 4 76943677 76943677 G A snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4859588 0.691294 0 0 1 0 0 intronic intronic intronic ART3,CXCL10 ART3,CXCL10 ENSG00000156219,ENSG00000169245 Na Na Na Na Na Na Het;G>A 505;20|20 Het;G>A 737;13|30 Hom;G>A 1199;0|34 N N - 4 76943764 76943765 CT C indel intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs11298565 0.691294 0 0 1 0 0 intronic intronic intronic ART3,CXCL10 ART3,CXCL10 ENSG00000156219,ENSG00000169245 Na Na Na Na Na Na Het;-T 145;15|9 Het;-T 271;15|14 Hom;-T 882;0|33 N N - 4 76944491 76944491 T C snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4241578 0.691294 0.5962 0.6083 1 0 0 intronic intronic intronic ART3,CXCL10 ART3,CXCL10 ENSG00000156219,ENSG00000169245 Na Na Na Na Na Na Het;T>C 404;20|18 Het;T>C 677;29|29 Hom;T>C 1441;0|48 N N - 4 76955914 76955914 T C snp nonsynonymous SNV A313G S105G polar,hydrophilic,neutral aliphatic,neutral CXCL11 Cxcl11 ENSG00000169248 C-X-C motif chemokine ligand 11 chr4:76954835-76962568 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; HIV G alpha (i) signalling events GO:0002690;positive regulation of leukocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006952;defense response;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007267;cell-cell signaling;TAS|GO:0010818;T cell chemotaxis;IMP|GO:0030816;positive regulation of cAMP metabolic process;IDA|GO:0032496;response to lipopolysaccharide;IBA|GO:0042127;regulation of cell proliferation;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IDA|GO:0070098;chemokine-mediated signaling pathway;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005623;cell;IEA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;IDA|GO:0008201;heparin binding;IMP|GO:0048248;CXCR3 chemokine receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CXCL11 https://www.ncbi.nlm.nih.gov/omim/?term=604852 http://www.informatics.jax.org/searchtool/Search.do?query=CXCL11&submit=Quick%0D%12456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL11 rs6532111 0.690495 0.5946 0.6092 1 0 0 exonic UTR3 UTR3 CXCL11 CXCL11(uc003hjm.3:c.*32A>G) ENSG00000169248(ENST00000306621:c.*32A>G,ENST00000503860:c.*32A>G) nonsynonymous SNV Na Na CXCL11:NM_001302123:exon4:c.A313G:p.S105G, Na Na Het;T>C 1139;35|52 Het;T>C 779;49|40 Hom;T>C 2588;2|99 N N - 4 76956188 76956188 T C snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4241580 0.690495 0.5955 0.6059 1 0 0 intronic intronic intronic ART3,CXCL11 ART3,CXCL11 ENSG00000156219,ENSG00000169248 Na Na Na Na Na Na Het;T>C 1228;30|33 Het;T>C 595;37|27 Hom;T>C 2797;0|81 N N - 4 76956289 76956289 C CAA indel intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs373818192 0.690495 0.5958 0.6060 1 0 0 intronic intronic intronic ART3,CXCL11 ART3,CXCL11 ENSG00000156219,ENSG00000169248 Na Na Na Na Na Na Het;+AA 2711;60|70 Het;+AA 2614;84|71 Hom;+AA 7113;0|164 N N - 4 76956528 76956528 A G snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4859415 0.690495 0.5959 0.6130 1 0 0 intronic intronic intronic ART3,CXCL11 ART3,CXCL11 ENSG00000156219,ENSG00000169248 Na Na Na Na Na Na Het;A>G 772;28|30 Het;A>G 731;36|30 Hom;A>G 2306;0|74 N N - 4 76956630 76956630 A T snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs4859597 0.690495 0 0 1 0 0 intronic intronic intronic ART3,CXCL11 ART3,CXCL11 ENSG00000156219,ENSG00000169248 Na Na Na Na Na Na Het;A>T 164;4|6 Het;A>T 105;2|4 Hom;A>T 239;0|7 N N - 4 76957171 76957171 C T snp UTR5 -31G>A CXCL11 Cxcl11 ENSG00000169248 C-X-C motif chemokine ligand 11 chr4:76954835-76962568 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; HIV G alpha (i) signalling events GO:0002690;positive regulation of leukocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006952;defense response;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007267;cell-cell signaling;TAS|GO:0010818;T cell chemotaxis;IMP|GO:0030816;positive regulation of cAMP metabolic process;IDA|GO:0032496;response to lipopolysaccharide;IBA|GO:0042127;regulation of cell proliferation;IMP|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IDA|GO:0070098;chemokine-mediated signaling pathway;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005623;cell;IEA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;IDA|GO:0008201;heparin binding;IMP|GO:0048248;CXCR3 chemokine receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CXCL11 https://www.ncbi.nlm.nih.gov/omim/?term=604852 http://www.informatics.jax.org/searchtool/Search.do?query=CXCL11&submit=Quick%0D%12456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CXCL11 rs6819597 0.690695 0.5957 0.6069 1 0 0 UTR5 UTR5 UTR5 CXCL11(NM_005409:c.-31G>A,NM_001302123:c.-31G>A) CXCL11(uc003hjm.3:c.-31G>A) ENSG00000169248(ENST00000306621:c.-31G>A,ENST00000503860:c.-31G>A) Na Na Na Na Na Na Het;C>T 2132;77|98 Het;C>T 1494;65|76 Hom;C>T 3243;2|122 N N - 4 76996958 76996958 G A snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs6532172 0.685903 0 0 1 0 0 intronic intronic intronic ART3 ART3 ENSG00000156219 Na Na Na Na Na Na Het;G>A 177;6|7 Het;G>A 94;9|5 Hom;G>A 405;0|12 N N - 4 76997258 76997258 T C snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs7676265 0.686102 0 0 1 0 0 intronic intronic intronic ART3 ART3 ENSG00000156219 Na Na Na Na Na Na Het;T>C 105;2|4 Het;T>C 64;3|3 Hom;T>C 224;0|7 N N - 4 77021433 77021433 C T snp intronic ART3 Art3 ENSG00000156219 ADP-ribosyltransferase 3 chr4:76932337-77033955 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Albumins; Azoospermia Post-translational modification: synthesis of GPI-anchored proteins GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS|GO:0006471;protein ADP-ribosylation;IEA|GO:0006501;C-terminal protein lipidation;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0003956;NAD(P)+-protein-arginine ADP-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/ART3 https://www.uniprot.org/uniprot/Q13508 https://www.ncbi.nlm.nih.gov/omim/?term=603086 http://www.informatics.jax.org/searchtool/Search.do?query=ART3&submit=Quick%0D%188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ART3 rs6532189 0.307508 0.3131 0.2746 1 0 0 intronic intronic intronic ART3 ART3 ENSG00000156219 Na Na Na Na Na Na Het;C>T 2706;125|125 Het;C>T 3008;114|137 Hom;C>T 6063;1|228 N N - 4 77053562 77053562 C T snp intronic NUP54 Nup54 ENSG00000138750 nucleoporin 54 chr4:77035812-77069668 The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013] tRNA processing in the nucleus GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006605;protein targeting;IEA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006913;nucleocytoplasmic transport;IEA|GO:0006999;nuclear pore organization;IBA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0036228;protein targeting to nuclear inner membrane;IBA|GO:0042306;regulation of protein import into nucleus;IEA|GO:0051028;mRNA transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0070208;protein heterotrimerization;IEA|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0043234;protein complex;IEA|GO:0044613;nuclear pore central transport channel;IBA GO:0005487;nucleocytoplasmic transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUP54 https://www.uniprot.org/uniprot/Q7Z3B4 https://www.ncbi.nlm.nih.gov/omim/?term=607607 http://www.informatics.jax.org/searchtool/Search.do?query=NUP54&submit=Quick%0D%7787ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP54 rs4859619 0.767372 0 0 1 0 0 intronic intronic intronic NUP54 NUP54 ENSG00000138750 Na Na Na Na Na Na Het;C>T 104;2|4 Ref Hom;C>T 83;0|3 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7717012 7717012 G A snp synonymous SNV G2226A L742L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs2285781 0.32528 0.4545 0.4836 1 0 0 exonic exonic exonic SORCS2 SORCS2 ENSG00000184985 synonymous SNV synonymous SNV unknown SORCS2:NM_020777:exon17:c.G2226A:p.L742L, SORCS2:uc011bwi.2:exon17:c.G1710A:p.L570L,SORCS2:uc003gkb.4:exon17:c.G2226A:p.L742L, UNKNOWN Het;G>A 928;58|45 Ref Hom;G>A 2842;0|104 N N - 4 77177817 77177817 A G snp intronic FAM47E Fam47e ENSG00000189157 family with sequence similarity 47 member E chr4:77135193-77204933 Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005737;cytoplasm;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/FAM47E http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E rs2289514 0.516174 0 0 1 0 0 intronic intronic intronic FAM47E,FAM47E-STBD1 FAM47E,FAM47E-STBD1 ENSG00000118804,ENSG00000189157,ENSG00000272414 Na Na Na Na Na Na Het;A>G 42;2|2 Het;A>G 123;2|5 Hom;A>G 234;0|8 N N - 4 77201332 77201332 G A snp UTR3 *1931G>A FAM47E Fam47e ENSG00000189157 family with sequence similarity 47 member E chr4:77135193-77204933 Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005737;cytoplasm;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/FAM47E http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E rs1036787 0.81869 0 0 1 0 0 intronic UTR3 intronic FAM47E,FAM47E-STBD1 FAM47E(uc003hjw.2:c.*1931G>A,uc010ijf.2:c.*1931G>A) ENSG00000118804,ENSG00000189157,ENSG00000272414 Na Na Na Na Na Na Het;G>A 773;24|35 Het;G>A 409;15|16 Hom;G>A 1641;0|58 N N - 4 77201487 77201487 C T snp nonsynonymous SNV C1097T T366M polar,hydrophilic,neutral hydrophobic,neutral FAM47E Fam47e ENSG00000189157 family with sequence similarity 47 member E chr4:77135193-77204933 Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005737;cytoplasm;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/FAM47E http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E rs1036788 0.655152 0.7830 0.7284 0.15 2 13 exonic exonic exonic FAM47E FAM47E ENSG00000189157 nonsynonymous SNV nonsynonymous SNV unknown FAM47E:NM_001242936:exon7:c.C803T:p.T268M,FAM47E:NM_001136570:exon7:c.C1097T:p.T366M, FAM47E:uc003hjx.3:exon7:c.C1097T:p.T366M,FAM47E:uc003hjv.3:exon7:c.C803T:p.T268M, UNKNOWN Het;C>T 1164;45|52 Het;C>T 937;55|46 Hom;C>T 2527;0|93 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7736128 7736128 C T snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs13105903 0.0732827 0.0840 0.1098 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;C>T 765;39|36 Ref Hom;C>T 1678;0|63 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7738730 7738730 A C snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs6840685 0.441693 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;A>C 551;29|21 Ref Hom;A>C 1254;1|46 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7741851 7741851 A G snp intronic SORCS2 Sorcs2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 rs12501485 0.293331 0 0 1 0 0 intronic intronic intronic SORCS2 SORCS2 ENSG00000184985 Na Na Na Na Na Na Het;A>G 126;9|6 Ref Hom;A>G 415;0|14 N N - 4 77660162 77660162 G C snp nonsynonymous SNV G836C G279A aliphatic,neutral aliphatic,hydrophobic,neutral SHROOM3 Shroom3 ENSG00000138771 shroom family member 3 chr4:77356253-77704406 This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] renal function and chronic kidney disease; Creatinine; Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; melanoma; Anticonvulsants; Kidney Diseases; Hip; Tobacco Use Disorder; Esophagitis; Magnesium Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. GO:0000902;cell morphogenesis;ISS|GO:0001843;neural tube closure;IEA|GO:0002064;epithelial cell development;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;ISS|GO:0008360;regulation of cell shape;IEA|GO:0043482;cellular pigment accumulation;ISS|GO:0045176;apical protein localization;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0016324;apical plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0043296;apical junction complex;ISS GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SHROOM3 https://www.uniprot.org/uniprot/Q8TF72 https://www.ncbi.nlm.nih.gov/omim/?term=604570 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM3&submit=Quick%0D%7798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM3 rs344140 0.664936 0.7099 0.7160 0.15 2 13 exonic exonic exonic SHROOM3 SHROOM3 ENSG00000138771 nonsynonymous SNV nonsynonymous SNV unknown SHROOM3:NM_020859:exon5:c.G836C:p.G279A, SHROOM3:uc011cbx.2:exon5:c.G836C:p.G279A,SHROOM3:uc011cbz.1:exon4:c.G308C:p.G103A,SHROOM3:uc003hkg.3:exon1:c.G170C:p.G57A,SHROOM3:uc003hkf.1:exon3:c.G461C:p.G154A, UNKNOWN Het;G>C 1557;124|71 Het;G>C 1737;109|83 Hom;G>C 5256;0|186 N N - 4 77660731 77660731 C G snp nonsynonymous SNV C1405G P469A hydrophobic,neutral aliphatic,hydrophobic,neutral SHROOM3 Shroom3 ENSG00000138771 shroom family member 3 chr4:77356253-77704406 This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] renal function and chronic kidney disease; Creatinine; Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; melanoma; Anticonvulsants; Kidney Diseases; Hip; Tobacco Use Disorder; Esophagitis; Magnesium Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. GO:0000902;cell morphogenesis;ISS|GO:0001843;neural tube closure;IEA|GO:0002064;epithelial cell development;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;ISS|GO:0008360;regulation of cell shape;IEA|GO:0043482;cellular pigment accumulation;ISS|GO:0045176;apical protein localization;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0016324;apical plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0043296;apical junction complex;ISS GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SHROOM3 https://www.uniprot.org/uniprot/Q8TF72 https://www.ncbi.nlm.nih.gov/omim/?term=604570 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM3&submit=Quick%0D%7798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM3 rs344141 0.438498 0.5555 0.5343 0.69 9 13 exonic exonic exonic SHROOM3 SHROOM3 ENSG00000138771 nonsynonymous SNV nonsynonymous SNV unknown SHROOM3:NM_020859:exon5:c.C1405G:p.P469A, SHROOM3:uc011cbx.2:exon5:c.C1405G:p.P469A,SHROOM3:uc011cbz.1:exon4:c.C877G:p.P293A,SHROOM3:uc003hkg.3:exon1:c.C739G:p.P247A,SHROOM3:uc003hkf.1:exon3:c.C1030G:p.P344A, UNKNOWN Het;C>G 2206;94|91 Het;C>G 2736;79|117 Hom;C>G 5260;0|182 N N - 4 77662248 77662248 G A snp synonymous SNV G2922A S974S polar,hydrophilic,neutral polar,hydrophilic,neutral SHROOM3 Shroom3 ENSG00000138771 shroom family member 3 chr4:77356253-77704406 This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] renal function and chronic kidney disease; Creatinine; Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; melanoma; Anticonvulsants; Kidney Diseases; Hip; Tobacco Use Disorder; Esophagitis; Magnesium Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. GO:0000902;cell morphogenesis;ISS|GO:0001843;neural tube closure;IEA|GO:0002064;epithelial cell development;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;ISS|GO:0008360;regulation of cell shape;IEA|GO:0043482;cellular pigment accumulation;ISS|GO:0045176;apical protein localization;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0016324;apical plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0043296;apical junction complex;ISS GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SHROOM3 https://www.uniprot.org/uniprot/Q8TF72 https://www.ncbi.nlm.nih.gov/omim/?term=604570 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM3&submit=Quick%0D%7798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM3 rs344142 0.432308 0.6436 0.5596 1 0 0 exonic exonic exonic SHROOM3 SHROOM3 ENSG00000138771 synonymous SNV synonymous SNV unknown SHROOM3:NM_020859:exon5:c.G2922A:p.S974S, SHROOM3:uc011cbx.2:exon5:c.G2922A:p.S974S,SHROOM3:uc011cbz.1:exon4:c.G2394A:p.S798S,SHROOM3:uc003hkg.3:exon1:c.G2256A:p.S752S,SHROOM3:uc003hkf.1:exon3:c.G2547A:p.S849S, UNKNOWN Het;G>A 1546;66|61 Het;G>A 988;41|44 Hom;G>A 2712;0|94 N N - 4 77662309 77662309 C T snp synonymous SNV C2983T L995L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SHROOM3 Shroom3 ENSG00000138771 shroom family member 3 chr4:77356253-77704406 This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] renal function and chronic kidney disease; Creatinine; Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Coronary Artery Disease; melanoma; Anticonvulsants; Kidney Diseases; Hip; Tobacco Use Disorder; Esophagitis; Magnesium Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. GO:0000902;cell morphogenesis;ISS|GO:0001843;neural tube closure;IEA|GO:0002064;epithelial cell development;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;ISS|GO:0008360;regulation of cell shape;IEA|GO:0043482;cellular pigment accumulation;ISS|GO:0045176;apical protein localization;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0016324;apical plasma membrane;ISS|GO:0030054;cell junction;IEA|GO:0043296;apical junction complex;ISS GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SHROOM3 https://www.uniprot.org/uniprot/Q8TF72 https://www.ncbi.nlm.nih.gov/omim/?term=604570 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM3&submit=Quick%0D%7798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM3 rs344143 0.380591 0.4043 0.5359 1 0 0 exonic exonic exonic SHROOM3 SHROOM3 ENSG00000138771 synonymous SNV synonymous SNV unknown SHROOM3:NM_020859:exon5:c.C2983T:p.L995L, SHROOM3:uc011cbx.2:exon5:c.C2983T:p.L995L,SHROOM3:uc011cbz.1:exon4:c.C2455T:p.L819L,SHROOM3:uc003hkg.3:exon1:c.C2317T:p.L773L,SHROOM3:uc003hkf.1:exon3:c.C2608T:p.L870L, UNKNOWN Het;C>T 1291;68|53 Het;C>T 1283;37|52 Hom;C>T 2710;0|92 N N - 4 77817362 77817362 T C snp synonymous SNV A1641G L547L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SOWAHB Sowahb ENSG00000186212 sosondowah ankyrin repeat domain family member B chr4:77816082-77819002 Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube. http://www.genecards.org/index.php?path=/Search/keyword/SOWAHB http://www.informatics.jax.org/searchtool/Search.do?query=SOWAHB&submit=Quick%0D%15598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOWAHB rs2703131 0.194688 0.2106 0.2173 1 0 0 exonic exonic exonic SOWAHB SOWAHB ENSG00000186212 synonymous SNV synonymous SNV unknown SOWAHB:NM_001029870:exon1:c.A1641G:p.L547L, SOWAHB:uc003hki.3:exon1:c.A1641G:p.L547L, UNKNOWN Het;T>C 2727;99|106 Het;T>C 2827;112|121 Hom;T>C 6304;2|225 N N - 4 77818202 77818202 T C snp synonymous SNV A801G T267T polar,hydrophilic,neutral polar,hydrophilic,neutral SOWAHB Sowahb ENSG00000186212 sosondowah ankyrin repeat domain family member B chr4:77816082-77819002 Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube. http://www.genecards.org/index.php?path=/Search/keyword/SOWAHB http://www.informatics.jax.org/searchtool/Search.do?query=SOWAHB&submit=Quick%0D%15598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOWAHB rs2645674 0.333466 0.2629 0.3557 1 0 0 exonic exonic exonic SOWAHB SOWAHB ENSG00000186212 synonymous SNV synonymous SNV unknown SOWAHB:NM_001029870:exon1:c.A801G:p.T267T, SOWAHB:uc003hki.3:exon1:c.A801G:p.T267T, UNKNOWN Het;T>C 904;32|39 Het;T>C 608;36|27 Hom;T>C 1455;0|51 N N - 4 77818548 77818548 T C snp nonsynonymous SNV A455G D152G polar,hydrophilic,charged(-) aliphatic,neutral SOWAHB Sowahb ENSG00000186212 sosondowah ankyrin repeat domain family member B chr4:77816082-77819002 Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube. http://www.genecards.org/index.php?path=/Search/keyword/SOWAHB http://www.informatics.jax.org/searchtool/Search.do?query=SOWAHB&submit=Quick%0D%15598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOWAHB rs2703129 0.333866 0.2011 0.3292 0.25 3 12 exonic exonic exonic SOWAHB SOWAHB ENSG00000186212 nonsynonymous SNV nonsynonymous SNV unknown SOWAHB:NM_001029870:exon1:c.A455G:p.D152G, SOWAHB:uc003hki.3:exon1:c.A455G:p.D152G, UNKNOWN Het;T>C 732;32|30 Het;T>C 494;33|23 Hom;T>C 1240;4|47 N N - 4 78387266 78387266 T C snp ncRNA_intronic AC092674.1 rs11735438 0.421526 0 0 1 0 0 intergenic intergenic ncRNA_intronic CCNG2(dist=296053),CXCL13(dist=45641) CCNG2(dist=296053),CXCL13(dist=45641) ENSG00000249036 Na Na Na Na Na Na Het;T>C 148;10|6 Het;T>C 164;10|8 Hom;T>C 376;0|11 N N - 4 786401 786401 T C snp intronic CPLX1 Cplx1 ENSG00000168993 complexin 1 chr4:778745-819986 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008] Behcet Syndrome; schizophrenia; Alcoholism Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. GABA synthesis, release, reuptake and degradation GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0030073;insulin secretion;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030425;dendrite;IEA|GO:0031201;SNARE complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0070032;synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;IEA|GO:0070554;synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex;TAS GO:0000149;SNARE binding;IEA|GO:0005326;neurotransmitter transporter activity;IEA|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPLX1 https://hpo.jax.org/app/browse/search?q=CPLX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605032 http://www.informatics.jax.org/searchtool/Search.do?query=CPLX1&submit=Quick%0D%12391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPLX1 rs2306251 0.298922 0.2965 0.3448 1 0 0 intronic intronic intronic CPLX1 CPLX1 ENSG00000168993 Na Na Na Na Na Na Het;T>C 1291;54|55 Het;T>C 897;45|41 Hom;T>C 2658;2|98 N N - 4 786508 786508 T C snp intronic CPLX1 Cplx1 ENSG00000168993 complexin 1 chr4:778745-819986 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008] Behcet Syndrome; schizophrenia; Alcoholism Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. GABA synthesis, release, reuptake and degradation GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0030073;insulin secretion;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030425;dendrite;IEA|GO:0031201;SNARE complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0070032;synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;IEA|GO:0070554;synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex;TAS GO:0000149;SNARE binding;IEA|GO:0005326;neurotransmitter transporter activity;IEA|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPLX1 https://hpo.jax.org/app/browse/search?q=CPLX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605032 http://www.informatics.jax.org/searchtool/Search.do?query=CPLX1&submit=Quick%0D%12391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPLX1 rs2306250 0.612021 0 0 1 0 0 intronic intronic intronic CPLX1 CPLX1 ENSG00000168993 Na Na Na Na Na Na Het;T>C 149;7|7 Het;T>C 229;8|10 Hom;T>C 287;0|8 N N - 4 79158843 79158843 G T snp intronic FRAS1 Fras1 ENSG00000138759 Fraser extracellular matrix complex subunit 1 chr4:78978724-79465423 This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Cleft Lip|Cleft Palate; Hair; Hematocrit; Hemoglobins; hair morphology; Forced Vital Capacity Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. GO:0002009;morphogenesis of an epithelium;IEA|GO:0003338;metanephros morphogenesis;IEA|GO:0007154;cell communication;IEA|GO:0015031;protein transport;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0043588;skin development;IEA|GO:0060021;palate development;IEA GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0061618;sublamina densa;ISS GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRAS1 https://www.uniprot.org/uniprot/Q86XX4 https://hpo.jax.org/app/browse/search?q=FRAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607830 http://www.informatics.jax.org/searchtool/Search.do?query=FRAS1&submit=Quick%0D%7792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAS1 rs10011303 0.30631 0 0 1 0 0 intronic intronic intronic FRAS1 FRAS1 ENSG00000138759 Na Na Na Na Na Na Het;G>T 304;9|11 Het;G>T 147;19|9 Hom;G>T 480;0|18 N N - 4 79391424 79391424 C T snp intronic FRAS1 Fras1 ENSG00000138759 Fraser extracellular matrix complex subunit 1 chr4:78978724-79465423 This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Cleft Lip|Cleft Palate; Hair; Hematocrit; Hemoglobins; hair morphology; Forced Vital Capacity Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. GO:0002009;morphogenesis of an epithelium;IEA|GO:0003338;metanephros morphogenesis;IEA|GO:0007154;cell communication;IEA|GO:0015031;protein transport;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0043588;skin development;IEA|GO:0060021;palate development;IEA GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0061618;sublamina densa;ISS GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRAS1 https://www.uniprot.org/uniprot/Q86XX4 https://hpo.jax.org/app/browse/search?q=FRAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607830 http://www.informatics.jax.org/searchtool/Search.do?query=FRAS1&submit=Quick%0D%7792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAS1 rs6533688 0.677516 0 0 1 0 0 intronic intronic intronic FRAS1 FRAS1 ENSG00000138759 Na Na Na Na Na Na Het;C>T 98;6|4 Het;C>T 180;3|7 Hom;C>T 137;0|5 N N - 4 79409997 79409997 T C snp intronic FRAS1 Fras1 ENSG00000138759 Fraser extracellular matrix complex subunit 1 chr4:78978724-79465423 This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Cleft Lip|Cleft Palate; Hair; Hematocrit; Hemoglobins; hair morphology; Forced Vital Capacity Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. GO:0002009;morphogenesis of an epithelium;IEA|GO:0003338;metanephros morphogenesis;IEA|GO:0007154;cell communication;IEA|GO:0015031;protein transport;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0043588;skin development;IEA|GO:0060021;palate development;IEA GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0061618;sublamina densa;ISS GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRAS1 https://www.uniprot.org/uniprot/Q86XX4 https://hpo.jax.org/app/browse/search?q=FRAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607830 http://www.informatics.jax.org/searchtool/Search.do?query=FRAS1&submit=Quick%0D%7792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAS1 rs1496603 0.802516 0.7210 0.8261 1 0 0 intronic intronic intronic FRAS1 FRAS1 ENSG00000138759 Na Na Na Na Na Na Het;T>C 328;28|16 Het;T>C 475;10|19 Hom;T>C 990;0|36 N N - 4 79428447 79428447 G A snp intronic FRAS1 Fras1 ENSG00000138759 Fraser extracellular matrix complex subunit 1 chr4:78978724-79465423 This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Cleft Lip|Cleft Palate; Hair; Hematocrit; Hemoglobins; hair morphology; Forced Vital Capacity Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. GO:0002009;morphogenesis of an epithelium;IEA|GO:0003338;metanephros morphogenesis;IEA|GO:0007154;cell communication;IEA|GO:0015031;protein transport;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0043588;skin development;IEA|GO:0060021;palate development;IEA GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0061618;sublamina densa;ISS GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRAS1 https://www.uniprot.org/uniprot/Q86XX4 https://hpo.jax.org/app/browse/search?q=FRAS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607830 http://www.informatics.jax.org/searchtool/Search.do?query=FRAS1&submit=Quick%0D%7792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAS1 rs13141571 0.40655 0 0 1 0 0 intronic intronic intronic FRAS1 FRAS1 ENSG00000138759 Na Na Na Na Na Na Het;G>A 62;6|3 Ref Hom;G>A 82;0|3 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7968888 7968888 T C snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs16841504 0.204673 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;T>C 860;32|38 Ref Hom;T>C 1602;0|58 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7968936 7968936 G C snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs13137347 0.269768 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;G>C 296;15|13 Ref Hom;G>C 756;0|28 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7968953 7968953 G C snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs28409515 0.26897 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;G>C 289;9|11 Ref Hom;G>C 543;0|17 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 7985392 7985392 C G snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs4696933 0.342851 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;C>G 359;14|14 Ref Hom;C>G 905;0|28 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8021151 8021151 C T snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs12500190 0.274561 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;C>T 201;1|6 Ref Hom;C>T 205;0|6 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8021417 8021417 A G snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs34477140 0.171725 0.2691 0.2564 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;A>G 775;39|33 Ref Hom;A>G 1210;0|46 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8021478 8021478 T C snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs34327175 0.17492 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;T>C 300;13|11 Ref Hom;T>C 241;0|8 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8047171 8047171 T A snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs9799373 0.280152 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;T>A 110;1|4 Het;T>A 72;1|3 Hom;T>A 90;0|4 N N - 4 80782552 80782552 G A snp ncRNA_exonic PCAT4 rs1132460 0.63099 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PCAT4 PCAT4 ENSG00000251321 Na Na Na Na Na Na Het;G>A 598;34|29 Het;G>A 992;68|47 Hom;G>A 4100;4|151 N N - 4 80782705 80782705 T C snp ncRNA_exonic PCAT4 rs1132461 0.612021 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PCAT4 PCAT4 ENSG00000251321 Na Na Na Na Na Na Het;T>C 802;31|30 Het;T>C 1982;66|84 Hom;T>C 4228;0|141 N N - 4 80828668 80828668 A T snp intronic ANTXR2 Antxr2 ENSG00000163297 anthrax toxin receptor 2 chr4:80822303-81046608 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] ankylosing spondylitis; Spondylitis, Ankylosing; Celiac Disease| Mice homozygous for null mutations display female infertility. Mice homozygous for one allele are highly resistant to Bacillus anthracis or anthrax toxin induced lethality. Young mice homozygous for a second allele display pregnancy-related premature death and failure of parturition. Uptake and function of anthrax toxins GO:0022414;reproductive process;IEA|GO:1901998;toxin transport;IEA GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANTXR2 https://hpo.jax.org/app/browse/search?q=ANTXR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608041 http://www.informatics.jax.org/searchtool/Search.do?query=ANTXR2&submit=Quick%0D%10930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANTXR2 rs10027070 0.251997 0.3205 0.3754 1 0 0 intronic intronic intronic ANTXR2 ANTXR2 ENSG00000163297 Na Na Na Na Na Na Het;A>T 150;7|8 Het;A>T 243;6|12 Hom;A>T 887;0|34 N N - 4 80828740 80828740 T A snp intronic ANTXR2 Antxr2 ENSG00000163297 anthrax toxin receptor 2 chr4:80822303-81046608 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] ankylosing spondylitis; Spondylitis, Ankylosing; Celiac Disease| Mice homozygous for null mutations display female infertility. Mice homozygous for one allele are highly resistant to Bacillus anthracis or anthrax toxin induced lethality. Young mice homozygous for a second allele display pregnancy-related premature death and failure of parturition. Uptake and function of anthrax toxins GO:0022414;reproductive process;IEA|GO:1901998;toxin transport;IEA GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANTXR2 https://hpo.jax.org/app/browse/search?q=ANTXR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608041 http://www.informatics.jax.org/searchtool/Search.do?query=ANTXR2&submit=Quick%0D%10930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANTXR2 rs6819294 0.485024 0 0 1 0 0 intronic intronic intronic ANTXR2 ANTXR2 ENSG00000163297 Na Na Na Na Na Na Het;T>A 35;3|2 Ref Hom;T>A 271;0|8 N N - 4 80939979 80939979 C T snp intronic ANTXR2 Antxr2 ENSG00000163297 anthrax toxin receptor 2 chr4:80822303-81046608 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] ankylosing spondylitis; Spondylitis, Ankylosing; Celiac Disease| Mice homozygous for null mutations display female infertility. Mice homozygous for one allele are highly resistant to Bacillus anthracis or anthrax toxin induced lethality. Young mice homozygous for a second allele display pregnancy-related premature death and failure of parturition. Uptake and function of anthrax toxins GO:0022414;reproductive process;IEA|GO:1901998;toxin transport;IEA GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANTXR2 https://hpo.jax.org/app/browse/search?q=ANTXR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608041 http://www.informatics.jax.org/searchtool/Search.do?query=ANTXR2&submit=Quick%0D%10930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANTXR2 rs4336166 0.292133 0 0 1 0 0 intronic intronic intronic ANTXR2 ANTXR2 ENSG00000163297 Na Na Na Na Na Na Het;C>T 116;3|7 Het;C>T 42;3|3 Hom;C>T 169;0|8 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8101758 8101758 G T snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs4261976 0.198882 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;G>T 196;10|11 Ref Hom;G>T 484;0|20 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8101795 8101795 G C snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs4631023 0.157348 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;G>C 244;10|13 Ref Hom;G>C 586;0|21 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8108027 8108027 T C snp intronic ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs12108540 0.713658 0 0 1 0 0 intronic intronic intronic ABLIM2 ABLIM2 ENSG00000163995 Na Na Na Na Na Na Het;T>C 121;3|4 Het;T>C 52;1|3 Hom;T>C 224;0|6 4_17.387_23.387 Chr4:7152608-8704080 0.68 4 8108315 8108315 C T snp synonymous SNV G60A T20T polar,hydrophilic,neutral polar,hydrophilic,neutral ABLIM2 Ablim2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 rs41266521 0.131789 0.1074 0.1082 1 0 0 exonic exonic exonic ABLIM2 ABLIM2 ENSG00000163995 synonymous SNV synonymous SNV unknown ABLIM2:NM_001130088:exon2:c.G60A:p.T20T,ABLIM2:NM_001130084:exon2:c.G60A:p.T20T,ABLIM2:NM_001130086:exon2:c.G60A:p.T20T,ABLIM2:NM_001130087:exon2:c.G60A:p.T20T,ABLIM2:NM_032432:exon2:c.G60A:p.T20T,ABLIM2:NM_001130083:exon2:c.G60A:p.T20T,ABLIM2:NM_001130085:exon2:c.G60A:p.T20T, ABLIM2:uc003gko.3:exon2:c.G60A:p.T20T,ABLIM2:uc003gkp.3:exon2:c.G60A:p.T20T,ABLIM2:uc003gkr.3:exon2:c.G60A:p.T20T,ABLIM2:uc003gks.3:exon2:c.G60A:p.T20T,ABLIM2:uc003gkm.4:exon2:c.G60A:p.T20T,ABLIM2:uc003gkj.4:exon2:c.G60A:p.T20T,ABLIM2:uc011bwl.1:exon2:c.G75A:p.T25T,ABLIM2:uc003gkq.3:exon2:c.G60A:p.T20T, UNKNOWN Het;C>T 1969;99|86 Ref Hom;C>T 3848;0|142 N N - 4 81307673 81307673 G GC indel ncRNA_exonic AC105917.1 rs56052909 0.628994 0 0 1 0 0 intronic intronic ncRNA_exonic C4orf22 C4orf22 ENSG00000232327 Na Na Na Na Na Na Het;+C 899;39|30 Het;+C 405;35|16 Hom;+C 1492;0|40 N N - 4 81307865 81307865 T C snp ncRNA_exonic AC105917.1 rs1874337 0.889377 0 0 1 0 0 intronic intronic ncRNA_exonic C4orf22 C4orf22 ENSG00000232327 Na Na Na Na Na Na Het;T>C 779;48|33 Het;T>C 378;34|18 Hom;T>C 1137;0|43 N N - 4 818440 818440 G A snp intronic CPLX1 Cplx1 ENSG00000168993 complexin 1 chr4:778745-819986 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008] Behcet Syndrome; schizophrenia; Alcoholism Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. GABA synthesis, release, reuptake and degradation GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0030073;insulin secretion;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030425;dendrite;IEA|GO:0031201;SNARE complex;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0070032;synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;IEA|GO:0070554;synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex;TAS GO:0000149;SNARE binding;IEA|GO:0005326;neurotransmitter transporter activity;IEA|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPLX1 https://hpo.jax.org/app/browse/search?q=CPLX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605032 http://www.informatics.jax.org/searchtool/Search.do?query=CPLX1&submit=Quick%0D%12391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPLX1 rs2276906 0.321685 0 0.3767 1 0 0 intronic intronic intronic CPLX1 CPLX1 ENSG00000168993 Na Na Na Na Na Na Het;G>A 505;17|18 Het;G>A 250;19|10 Hom;G>A 664;0|22 N N - 4 81952848 81952848 G A snp intronic BMP3 Bmp3 ENSG00000152785 bone morphogenetic protein 3 chr4:81952119-81978685 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016] Chronic renal failure|Kidney Failure, Chronic; height; Bone Mineral Density; Alzheimer's disease ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Homozygous mutation of this gene results in increased bone density. GO:0001501;skeletal system development;TAS|GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030154;cell differentiation;IEA|GO:0030509;BMP signaling pathway;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0048468;cell development;IBA|GO:0051216;cartilage development;IEA|GO:0060395;SMAD protein signal transduction;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0008083;growth factor activity;IEA|GO:0070700;BMP receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/BMP3 https://www.uniprot.org/uniprot/P12645 https://www.ncbi.nlm.nih.gov/omim/?term=112263 http://www.informatics.jax.org/searchtool/Search.do?query=BMP3&submit=Quick%0D%9594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BMP3 rs17346716 0.0419329 0 0 1 0 0 intronic intronic intronic BMP3 BMP3 ENSG00000152785 Na Na Na Na Na Na Het;G>A 383;16|17 Het;G>A 321;16|15 Hom;G>A 636;0|24 N N - 4 83499717 83499717 A G snp intergenic TMEM150C Tmem150c ENSG00000249242 transmembrane protein 150C chr4:83404323-83483510 GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM150C https://www.ncbi.nlm.nih.gov/omim/?term=617292 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM150C&submit=Quick%0D%19919ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM150C rs9307807 0.658347 0 0 1 0 0 intergenic intergenic intergenic TMEM150C(dist=16591),LINC00575(dist=34549) TMEM150C(dist=16207),LINC00575(dist=34549) ENSG00000249960(dist=6750),ENSG00000248113(dist=1553) Na Na Na Na Na Na Het;A>G 969;28|43 Het;A>G 600;22|29 Hom;A>G 2043;0|75 N N - 4 84458001 84458001 A G snp intronic AGPAT9 rs55833887 0.307109 0 0 1 0 0 intronic intronic intronic AGPAT9 AGPAT9 ENSG00000138678 Na Na Na Na Na Na Het;A>G 739;24|29 Het;A>G 490;29|23 Hom;A>G 1326;0|49 N N - 4 84458028 84458028 C G snp intronic AGPAT9 rs56139069 0.307109 0 0 1 0 0 intronic intronic intronic AGPAT9 AGPAT9 ENSG00000138678 Na Na Na Na Na Na Het;C>G 582;16|21 Het;C>G 382;27|16 Hom;C>G 895;0|32 N N - 4 84465613 84465613 C T snp intronic AGPAT9 rs10516690 0.28774 0 0 1 0 0 intronic intronic intronic AGPAT9 AGPAT9 ENSG00000138678 Na Na Na Na Na Na Het;C>T 932;37|35 Het;C>T 616;29|27 Hom;C>T 1721;0|56 N N - 4 84465855 84465855 A C snp intronic AGPAT9 rs28360718 0.297125 0 0 1 0 0 intronic intronic intronic AGPAT9 AGPAT9 ENSG00000138678 Na Na Na Na Na Na Het;A>C 856;25|27 Het;A>C 668;31|22 Hom;A>C 1277;0|33 N N - 4 85164141 85164141 T TA indel ncRNA_intronic AK095285 rs33998177 0.589457 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101928978 AK095285,BC005018 ENSG00000250546 Na Na Na Na Na Na Het;+A 246;2|13 Het;+A 288;2|13 Hom;+A 78;0|5 N N - 4 85164403 85164403 A AAAACATTGAATGTTTT indel ncRNA_intronic AK095285 rs145003318 0.552716 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101928978 AK095285,BC005018 ENSG00000250546 Na Na Na Na Na Na Het;+AAACATTGAATGTTTT 889;27|24 Het;+AAACATTGAATGTTTT 573;30|19 Hom;+AAACATTGAATGTTTT 1523;0|39 N N - 4 87797861 87797861 T C snp intronic C4orf36 1700016H13Rik ENSG00000163633 chromosome 4 open reading frame 36 chr4:87797358-87857354 Amyotrophic Lateral Sclerosis; Echocardiography http://www.genecards.org/index.php?path=/Search/keyword/C4orf36 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf36&submit=Quick%0D%11038ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf36 rs1374935 0.472843 0 0 1 0 0 intronic intronic intronic C4orf36 C4orf36 ENSG00000163633 Na Na Na Na Na Na Het;T>C 891;41|36 Het;T>C 873;30|34 Hom;T>C 1659;0|51 N N - 4 87808810 87808810 G GCA indel UTR3 *103C>TGC C4orf36 1700016H13Rik ENSG00000163633 chromosome 4 open reading frame 36 chr4:87797358-87857354 Amyotrophic Lateral Sclerosis; Echocardiography http://www.genecards.org/index.php?path=/Search/keyword/C4orf36 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf36&submit=Quick%0D%11038ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf36 rs3035472 0.492812 0 0 1 0 0 intronic intronic UTR3 C4orf36 C4orf36 ENSG00000163633(ENST00000473559:c.*103C>TGC,ENST00000462714:c.*449C>TGC) Na Na Na Na Na Na Het;+CA 149;8|5 Het;+CA 346;9|8 Hom;+CA 718;0|15 N N - 4 87836005 87836005 T C snp intronic C4orf36 1700016H13Rik ENSG00000163633 chromosome 4 open reading frame 36 chr4:87797358-87857354 Amyotrophic Lateral Sclerosis; Echocardiography http://www.genecards.org/index.php?path=/Search/keyword/C4orf36 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf36&submit=Quick%0D%11038ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf36 rs2594277 0.407348 0 0 1 0 0 intergenic intergenic intronic C4orf36(dist=22430),LOC100506746(dist=10041) C4orf36(dist=22430),LOC100506746(dist=10041) ENSG00000163633 Na Na Na Na Na Na Het;T>C 42;4|3 Ref Hom;T>C 153;0|6 N N - 4 88052219 88052219 T C snp intronic AFF1 Aff1 ENSG00000172493 AF4/FMR2 family member 1 chr4:87856154-88062206 This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Lupus Erythematosus, Systemic; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Triglycerides Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0008023;transcription elongation factor complex;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF1 https://www.ncbi.nlm.nih.gov/omim/?term=159557 http://www.informatics.jax.org/searchtool/Search.do?query=AFF1&submit=Quick%0D%13177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF1 rs342467 0.567292 0.5927 0.5937 1 0 0 intronic intronic intronic AFF1 AFF1 ENSG00000172493 Na Na Na Na Na Na Het;T>C 744;44|32 Het;T>C 633;36|29 Hom;T>C 2050;0|71 N N - 4 88053085 88053085 C T snp intronic AFF1 Aff1 ENSG00000172493 AF4/FMR2 family member 1 chr4:87856154-88062206 This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Lupus Erythematosus, Systemic; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Triglycerides Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0008023;transcription elongation factor complex;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF1 https://www.ncbi.nlm.nih.gov/omim/?term=159557 http://www.informatics.jax.org/searchtool/Search.do?query=AFF1&submit=Quick%0D%13177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF1 rs342466 0.621605 0 0 1 0 0 intronic intronic intronic AFF1 AFF1 ENSG00000172493 Na Na Na Na Na Na Het;C>T 262;29|12 Het;C>T 427;25|17 Hom;C>T 1007;0|34 N N - 4 88056719 88056720 GT G indel intronic AFF1 Aff1 ENSG00000172493 AF4/FMR2 family member 1 chr4:87856154-88062206 This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Lupus Erythematosus, Systemic; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Triglycerides Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0008023;transcription elongation factor complex;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF1 https://www.ncbi.nlm.nih.gov/omim/?term=159557 http://www.informatics.jax.org/searchtool/Search.do?query=AFF1&submit=Quick%0D%13177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF1 rs398083273 0.570288 0 0.6550 1 0 0 intronic intronic intronic AFF1 AFF1 ENSG00000172493 Na Na Na Na Na Na Het;-T 1090;34|51 Het;-T 619;40|32 Hom;-T 1704;0|64 N N - 4 88226480 88226480 A C snp intronic HSD17B13 Hsd17b13 ENSG00000170509 hydroxysteroid 17-beta dehydrogenase 13 chr4:88224941-88244058 No notable phenotype was detected in a high-throughput phenotype screen of homozygous mice. Lipid particle organization GO:0008150;biological_process;ND|GO:0034389;lipid particle organization;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS GO:0003674;molecular_function;ND|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSD17B13 https://www.ncbi.nlm.nih.gov/omim/?term=612127 http://www.informatics.jax.org/searchtool/Search.do?query=HSD17B13&submit=Quick%0D%12725ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD17B13 rs6850131 0.448682 0.5453 0.4673 1 0 0 intronic intronic intronic HSD17B13 HSD17B13 ENSG00000170509 Na Na Na Na Na Na Het;A>C 414;18|18 Het;A>C 563;11|23 Hom;A>C 1835;0|64 N N - 4 88226572 88226572 C T snp intronic HSD17B13 Hsd17b13 ENSG00000170509 hydroxysteroid 17-beta dehydrogenase 13 chr4:88224941-88244058 No notable phenotype was detected in a high-throughput phenotype screen of homozygous mice. Lipid particle organization GO:0008150;biological_process;ND|GO:0034389;lipid particle organization;TAS|GO:0046889;positive regulation of lipid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;TAS GO:0003674;molecular_function;ND|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSD17B13 https://www.ncbi.nlm.nih.gov/omim/?term=612127 http://www.informatics.jax.org/searchtool/Search.do?query=HSD17B13&submit=Quick%0D%12725ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD17B13 rs6850509 0.448682 0 0 1 0 0 intronic intronic intronic HSD17B13 HSD17B13 ENSG00000170509 Na Na Na Na Na Na Het;C>T 73;5|4 Ref Hom;C>T 456;0|14 N N - 4 88898941 88898941 C T snp nonsynonymous SNV C71T A24V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SPP1 Spp1 ENSG00000118785 secreted phosphoprotein 1 chr4:88896819-88904562 The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Alzheimer's disease ; plasma HDL cholesterol (HDL-C) levels; ovarian cancer; Nephrolithiasis; Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus; hypertension; bone density; nephrolithiasis; Caffeine; hepatitis C, chronic; Type 2 Diabetes| edema | rosiglitazone; pseudoxanthoma elasticum; null; Muscular Dystrophy, Duchenne; lupus erythematosus; hepatitis B liver cancer; abdominal aortic aneurysm; Amyotrophic Lateral Sclerosis|Anoxia|; Carcinoma, Squamous Cell|Mouth Neoplasms; sarcoidosis; tuberculosis; normal variation; Bone Mineral Density; autoimmunity/lymphoproliferation; systemic lupus erythematosus; Carotid Artery Diseases|; Kidney Calculi; HIV; esophageal adenocarcinoma; intima-media thickness; Chronic renal failure|Kidney Failure, Chronic; periodontitis; Lupus Erythematosus, Systemic; Lewy Body Disease; Type 2 diabetes; multiple sclerosis; Diabetes Mellitus, Type 1|; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; asthma IgE; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; rheumatoid arthritis; bone density; coronary calcification; adult-onset primary open-angle glaucoma; Urolithiasis; urinary calculus; Glioma; atherosclerosis; kidney aging; Cleft Lip|Cleft Palate Two alleles determine natural resistance/susceptibility to the lethal effects of the Gilliam strain of Rickettsia tsutsugamushi. Mice homozygous for a knock-out allele exhibit abnormal osteoclast physiology, macrophage recruitment, wound healing, response to injury, and inflammatory response. Post-translational protein phosphorylation GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IBA|GO:0006710;androgen catabolic process;IDA|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;IEA|GO:0007566;embryo implantation;TAS|GO:0010033;response to organic substance;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0031214;biomineral tissue development;IEA|GO:0033280;response to vitamin D;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045780;positive regulation of bone resorption;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046697;decidualization;TAS|GO:0048545;response to steroid hormone;IEA|GO:0048685;negative regulation of collateral sprouting of intact axon in response to injury;IEA|GO:0071394;cellular response to testosterone stimulus;IDA|GO:2000866;positive regulation of estradiol secretion;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IDA|GO:0031982;vesicle;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0050840;extracellular matrix binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SPP1 https://www.uniprot.org/uniprot/P10451 https://www.ncbi.nlm.nih.gov/omim/?term=166490 http://www.informatics.jax.org/searchtool/Search.do?query=SPP1&submit=Quick%0D%5009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPP1 rs11728697 0.423922 0 0.6372 1 0 0 exonic exonic intronic SPP1 SPP1 ENSG00000118785 nonsynonymous SNV nonsynonymous SNV Na SPP1:NM_001251830:exon4:c.C71T:p.A24V, SPP1:uc011cde.2:exon4:c.C71T:p.A24V, Na Het;C>T 1247;79|65 Het;C>T 1273;36|59 Hom;C>T 2337;1|88 N N - 4 89015857 89015857 C T snp intronic ABCG2 Abcg2 ENSG00000118777 ATP binding cassette subfamily G member 2 (Junior blood group) chr4:89011416-89152474 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Encephalomyelitis, Autoimmune, Experimental|Multiple Sclerosis; lymphoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; Neutropenia; ovarian cancer; arthritis Crohn's disease ulcerative colitis; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Carcinoma, Non-Small-Cell Lung|Colorectal Neoplasms|Genitourinary Neoplasms|Lung Neoplasms|Neoplasm of lung |Neutropenia|Urogenital Neoplasms; Gout|Hyperuricemia; Neoplasms; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; lung cancer ; irinotecan pharmacokinetics; Lipid response to rosuvastatin; Epilepsies, Partial; colorectal cancer; pharmacogenetic variation; Coronary Disease|Coronary heart disease|Myocardial Infarction; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; atherosclerosis, coronary lipoprotein; atherogenic uric acid concentrations; serum urate; pharmacogenetic studies; esophageal adenocarcinoma; Brain Neoplasms|Glioma|Neoplasm Recurrence, Local; Neurotoxicity Syndromes|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Gout; nelfinavir pharmacokinetics; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; gefitinib pharmacokinetics; serum uric acid; lung cancer; pitavastatin pharmacokinetics; rosuvastatin pharmacokinetics; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Alzheimer's disease ; prostate cancer; telmisartan; Colorectal Neoplasms|Neutropenia; metabolite of mycophenolic acid; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Cholesterol, LDL; kidney cancer; Diarrhea|Lymphoma, Large B-Cell, Diffuse; obesity; Adenocarcinoma|Pancreatic Neoplasms; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; gout; Leukemia, Myeloid, Acute; Body Weight|Gastrointestinal Stromal Tumors; Alzheimer Disease|Alzheimer's Disease; gefitinib toxicity; Uric Acid; immunosuppression, chemotherapy induced; Myocardial Infarction; plasma HDL-C levels; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Leukemia, Myeloid, Chronic-Phase; solid tumors; null; Hearing Loss Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. Iron uptake and transport GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0015886;heme transport;IEA|GO:0033344;cholesterol efflux;IBA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016324;apical plasma membrane;IBA|GO:0031966;mitochondrial membrane;IEA|GO:0043235;receptor complex;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015232;heme transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0017127;cholesterol transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCG2 https://www.uniprot.org/uniprot/Q9UNQ0 https://www.ncbi.nlm.nih.gov/omim/?term=603756 http://www.informatics.jax.org/searchtool/Search.do?query=ABCG2&submit=Quick%0D%5008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCG2 rs2231164 0.571885 0.6822 0.7545 1 0 0 intronic intronic intronic ABCG2 ABCG2 ENSG00000118777 Na Na Na Na Na Na Het;C>T 433;18|20 Het;C>T 166;13|9 Hom;C>T 630;1|27 N N - 4 89016782 89016782 A G snp intronic ABCG2 Abcg2 ENSG00000118777 ATP binding cassette subfamily G member 2 (Junior blood group) chr4:89011416-89152474 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Encephalomyelitis, Autoimmune, Experimental|Multiple Sclerosis; lymphoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; Neutropenia; ovarian cancer; arthritis Crohn's disease ulcerative colitis; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Carcinoma, Non-Small-Cell Lung|Colorectal Neoplasms|Genitourinary Neoplasms|Lung Neoplasms|Neoplasm of lung |Neutropenia|Urogenital Neoplasms; Gout|Hyperuricemia; Neoplasms; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; lung cancer ; irinotecan pharmacokinetics; Lipid response to rosuvastatin; Epilepsies, Partial; colorectal cancer; pharmacogenetic variation; Coronary Disease|Coronary heart disease|Myocardial Infarction; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; atherosclerosis, coronary lipoprotein; atherogenic uric acid concentrations; serum urate; pharmacogenetic studies; esophageal adenocarcinoma; Brain Neoplasms|Glioma|Neoplasm Recurrence, Local; Neurotoxicity Syndromes|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Gout; nelfinavir pharmacokinetics; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; gefitinib pharmacokinetics; serum uric acid; lung cancer; pitavastatin pharmacokinetics; rosuvastatin pharmacokinetics; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Alzheimer's disease ; prostate cancer; telmisartan; Colorectal Neoplasms|Neutropenia; metabolite of mycophenolic acid; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Cholesterol, LDL; kidney cancer; Diarrhea|Lymphoma, Large B-Cell, Diffuse; obesity; Adenocarcinoma|Pancreatic Neoplasms; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; gout; Leukemia, Myeloid, Acute; Body Weight|Gastrointestinal Stromal Tumors; Alzheimer Disease|Alzheimer's Disease; gefitinib toxicity; Uric Acid; immunosuppression, chemotherapy induced; Myocardial Infarction; plasma HDL-C levels; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Leukemia, Myeloid, Chronic-Phase; solid tumors; null; Hearing Loss Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. Iron uptake and transport GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0015886;heme transport;IEA|GO:0033344;cholesterol efflux;IBA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016324;apical plasma membrane;IBA|GO:0031966;mitochondrial membrane;IEA|GO:0043235;receptor complex;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015232;heme transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0017127;cholesterol transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCG2 https://www.uniprot.org/uniprot/Q9UNQ0 https://www.ncbi.nlm.nih.gov/omim/?term=603756 http://www.informatics.jax.org/searchtool/Search.do?query=ABCG2&submit=Quick%0D%5008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCG2 rs2231162 0.758187 0.8279 0.8869 1 0 0 intronic intronic intronic ABCG2 ABCG2 ENSG00000118777 Na Na Na Na Na Na Het;A>G 488;10|21 Het;A>G 270;14|14 Hom;A>G 1164;0|43 N N - 4 89018565 89018565 A G snp intronic ABCG2 Abcg2 ENSG00000118777 ATP binding cassette subfamily G member 2 (Junior blood group) chr4:89011416-89152474 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Encephalomyelitis, Autoimmune, Experimental|Multiple Sclerosis; lymphoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; Neutropenia; ovarian cancer; arthritis Crohn's disease ulcerative colitis; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Carcinoma, Non-Small-Cell Lung|Colorectal Neoplasms|Genitourinary Neoplasms|Lung Neoplasms|Neoplasm of lung |Neutropenia|Urogenital Neoplasms; Gout|Hyperuricemia; Neoplasms; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; lung cancer ; irinotecan pharmacokinetics; Lipid response to rosuvastatin; Epilepsies, Partial; colorectal cancer; pharmacogenetic variation; Coronary Disease|Coronary heart disease|Myocardial Infarction; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; atherosclerosis, coronary lipoprotein; atherogenic uric acid concentrations; serum urate; pharmacogenetic studies; esophageal adenocarcinoma; Brain Neoplasms|Glioma|Neoplasm Recurrence, Local; Neurotoxicity Syndromes|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Gout; nelfinavir pharmacokinetics; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; gefitinib pharmacokinetics; serum uric acid; lung cancer; pitavastatin pharmacokinetics; rosuvastatin pharmacokinetics; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Alzheimer's disease ; prostate cancer; telmisartan; Colorectal Neoplasms|Neutropenia; metabolite of mycophenolic acid; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Cholesterol, LDL; kidney cancer; Diarrhea|Lymphoma, Large B-Cell, Diffuse; obesity; Adenocarcinoma|Pancreatic Neoplasms; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; gout; Leukemia, Myeloid, Acute; Body Weight|Gastrointestinal Stromal Tumors; Alzheimer Disease|Alzheimer's Disease; gefitinib toxicity; Uric Acid; immunosuppression, chemotherapy induced; Myocardial Infarction; plasma HDL-C levels; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Leukemia, Myeloid, Chronic-Phase; solid tumors; null; Hearing Loss Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. Iron uptake and transport GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0015886;heme transport;IEA|GO:0033344;cholesterol efflux;IBA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016324;apical plasma membrane;IBA|GO:0031966;mitochondrial membrane;IEA|GO:0043235;receptor complex;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015232;heme transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0017127;cholesterol transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCG2 https://www.uniprot.org/uniprot/Q9UNQ0 https://www.ncbi.nlm.nih.gov/omim/?term=603756 http://www.informatics.jax.org/searchtool/Search.do?query=ABCG2&submit=Quick%0D%5008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCG2 rs2231157 0.309505 0.3519 0.4063 1 0 0 intronic intronic intronic ABCG2 ABCG2 ENSG00000118777 Na Na Na Na Na Na Het;A>G 380;13|16 Het;A>G 412;14|16 Hom;A>G 685;0|21 N N - 4 89022362 89022362 C T snp intronic ABCG2 Abcg2 ENSG00000118777 ATP binding cassette subfamily G member 2 (Junior blood group) chr4:89011416-89152474 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Encephalomyelitis, Autoimmune, Experimental|Multiple Sclerosis; lymphoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; Neutropenia; ovarian cancer; arthritis Crohn's disease ulcerative colitis; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Carcinoma, Non-Small-Cell Lung|Colorectal Neoplasms|Genitourinary Neoplasms|Lung Neoplasms|Neoplasm of lung |Neutropenia|Urogenital Neoplasms; Gout|Hyperuricemia; Neoplasms; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; lung cancer ; irinotecan pharmacokinetics; Lipid response to rosuvastatin; Epilepsies, Partial; colorectal cancer; pharmacogenetic variation; Coronary Disease|Coronary heart disease|Myocardial Infarction; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; atherosclerosis, coronary lipoprotein; atherogenic uric acid concentrations; serum urate; pharmacogenetic studies; esophageal adenocarcinoma; Brain Neoplasms|Glioma|Neoplasm Recurrence, Local; Neurotoxicity Syndromes|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Gout; nelfinavir pharmacokinetics; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; gefitinib pharmacokinetics; serum uric acid; lung cancer; pitavastatin pharmacokinetics; rosuvastatin pharmacokinetics; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Alzheimer's disease ; prostate cancer; telmisartan; Colorectal Neoplasms|Neutropenia; metabolite of mycophenolic acid; Carcinoma, Non-Small-Cell Lung|Diarrhea|Exanthema|Head and Neck Neoplasms|Lung Neoplasms|Neoplasms, Squamous Cell|Ovarian Neoplasms; Cholesterol, LDL; kidney cancer; Diarrhea|Lymphoma, Large B-Cell, Diffuse; obesity; Adenocarcinoma|Pancreatic Neoplasms; Psoriasis; Chronic renal failure|Kidney Failure, Chronic; gout; Leukemia, Myeloid, Acute; Body Weight|Gastrointestinal Stromal Tumors; Alzheimer Disease|Alzheimer's Disease; gefitinib toxicity; Uric Acid; immunosuppression, chemotherapy induced; Myocardial Infarction; plasma HDL-C levels; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; Leukemia, Myeloid, Chronic-Phase; solid tumors; null; Hearing Loss Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. Iron uptake and transport GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0015886;heme transport;IEA|GO:0033344;cholesterol efflux;IBA|GO:0042493;response to drug;TAS|GO:0042908;xenobiotic transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016324;apical plasma membrane;IBA|GO:0031966;mitochondrial membrane;IEA|GO:0043235;receptor complex;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015232;heme transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0017127;cholesterol transporter activity;IBA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCG2 https://www.uniprot.org/uniprot/Q9UNQ0 https://www.ncbi.nlm.nih.gov/omim/?term=603756 http://www.informatics.jax.org/searchtool/Search.do?query=ABCG2&submit=Quick%0D%5008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCG2 rs2231153 0.672324 0.7547 0.8561 1 0 0 intronic intronic intronic ABCG2 ABCG2 ENSG00000118777 Na Na Na Na Na Na Het;C>T 991;48|42 Het;C>T 617;32|31 Hom;C>T 2986;0|110 N N - 4 892082 892085 TGCA T indel intronic GAK Gak ENSG00000178950 cyclin G associated kinase chr4:843064-926161 In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Parkinson Disease; Parkinson's disease; Parkinson's disease (familial); Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a deletion of the kinase domain display neonatal lethality with abnormal lung alveolar morphology and development. Mice homozygous for a knock-out allele exhibit lethality during early development. Clathrin-mediated endocytosis GO:0006468;protein phosphorylation;IEA|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007029;endoplasmic reticulum organization;ISS|GO:0007030;Golgi organization;IMP|GO:0007049;cell cycle;IEA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0016191;synaptic vesicle uncoating;ISS|GO:0016310;phosphorylation;IEA|GO:0051085;chaperone mediated protein folding requiring cofactor;TAS|GO:0061024;membrane organization;TAS|GO:0072318;clathrin coat disassembly;IMP|GO:0072583;clathrin-dependent endocytosis;IMP|GO:0072600;establishment of protein localization to Golgi;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:0090160;Golgi to lysosome transport;IMP|GO:1905224;clathrin-coated pit assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0031982;vesicle;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030332;cyclin binding;ISS|GO:0051087;chaperone binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/GAK https://www.ncbi.nlm.nih.gov/omim/?term=602052 http://www.informatics.jax.org/searchtool/Search.do?query=GAK&submit=Quick%0D%14258ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAK rs3830209 0.458866 0 0 1 0 0 intronic intronic intronic GAK GAK ENSG00000178950 Na Na Na Na Na Na Het;-GCA 212;15|7 Het;-GCA 245;11|8 Hom;-GCA 773;0|18 N N - 4 89711849 89711849 T C snp intronic FAM13A Fam13a ENSG00000138640 family with sequence similarity 13 member A chr4:89647106-90032549 Calcium; Lung Diseases; Waist-Hip Ratio; Alkaline Phosphatase; Waist Circumference; Pulmonary Disease, Chronic Obstructive; Respiratory Function Tests; Cornea; Blood Pressure; Iron; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Arteries; Tobacco Use Disorder; Chronic Obstructive Pulmonary Disease; hypertension; Kidney Diseases Homozygotes for a null allele are resistant to cigarette-induced emphysema. Homozygotes for a different null allele show impaired insulin signaling in WAT and enhanced lipolysis leading to exacerbated WAT inflammation, high FFA levels, glucose intolerance and insulin resistance under high-fat diet. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FAM13A https://www.uniprot.org/uniprot/O94988 https://hpo.jax.org/app/browse/search?q=FAM13A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613299 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13A&submit=Quick%0D%7760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13A rs2290782 0.614417 0.5184 0 1 0 0 intronic intronic intronic FAM13A FAM13A ENSG00000138640 Na Na Na Na Na Na Het;T>C 119;7|4 Het;T>C 251;22|9 Hom;T>C 984;0|26 N N - 4 89711854 89711854 C T snp intronic FAM13A Fam13a ENSG00000138640 family with sequence similarity 13 member A chr4:89647106-90032549 Calcium; Lung Diseases; Waist-Hip Ratio; Alkaline Phosphatase; Waist Circumference; Pulmonary Disease, Chronic Obstructive; Respiratory Function Tests; Cornea; Blood Pressure; Iron; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Arteries; Tobacco Use Disorder; Chronic Obstructive Pulmonary Disease; hypertension; Kidney Diseases Homozygotes for a null allele are resistant to cigarette-induced emphysema. Homozygotes for a different null allele show impaired insulin signaling in WAT and enhanced lipolysis leading to exacerbated WAT inflammation, high FFA levels, glucose intolerance and insulin resistance under high-fat diet. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FAM13A https://www.uniprot.org/uniprot/O94988 https://hpo.jax.org/app/browse/search?q=FAM13A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613299 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13A&submit=Quick%0D%7760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13A rs2290781 0.27516 0.2694 0 1 0 0 intronic intronic intronic FAM13A FAM13A ENSG00000138640 Na Na Na Na Na Na Het;C>T 125;5|4 Het;C>T 221;14|7 Hom;C>T 670;0|16 N N - 4 89726073 89726073 T A snp intronic FAM13A Fam13a ENSG00000138640 family with sequence similarity 13 member A chr4:89647106-90032549 Calcium; Lung Diseases; Waist-Hip Ratio; Alkaline Phosphatase; Waist Circumference; Pulmonary Disease, Chronic Obstructive; Respiratory Function Tests; Cornea; Blood Pressure; Iron; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Arteries; Tobacco Use Disorder; Chronic Obstructive Pulmonary Disease; hypertension; Kidney Diseases Homozygotes for a null allele are resistant to cigarette-induced emphysema. Homozygotes for a different null allele show impaired insulin signaling in WAT and enhanced lipolysis leading to exacerbated WAT inflammation, high FFA levels, glucose intolerance and insulin resistance under high-fat diet. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FAM13A https://www.uniprot.org/uniprot/O94988 https://hpo.jax.org/app/browse/search?q=FAM13A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613299 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13A&submit=Quick%0D%7760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13A rs3822075 0.544129 0 0 1 0 0 intronic intronic intronic FAM13A FAM13A ENSG00000138640 Na Na Na Na Na Na Het;T>A 95;6|4 Het;T>A 127;7|6 Hom;T>A 233;0|9 N N - 4 89726283 89726283 A C snp intronic FAM13A Fam13a ENSG00000138640 family with sequence similarity 13 member A chr4:89647106-90032549 Calcium; Lung Diseases; Waist-Hip Ratio; Alkaline Phosphatase; Waist Circumference; Pulmonary Disease, Chronic Obstructive; Respiratory Function Tests; Cornea; Blood Pressure; Iron; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Arteries; Tobacco Use Disorder; Chronic Obstructive Pulmonary Disease; hypertension; Kidney Diseases Homozygotes for a null allele are resistant to cigarette-induced emphysema. Homozygotes for a different null allele show impaired insulin signaling in WAT and enhanced lipolysis leading to exacerbated WAT inflammation, high FFA levels, glucose intolerance and insulin resistance under high-fat diet. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FAM13A https://www.uniprot.org/uniprot/O94988 https://hpo.jax.org/app/browse/search?q=FAM13A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613299 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13A&submit=Quick%0D%7760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13A rs2276936 0.589657 0.4879 0 1 0 0 intronic intronic intronic FAM13A FAM13A ENSG00000138640 Na Na Na Na Na Na Het;A>C 157;4|7 Het;A>C 156;5|5 Hom;A>C 363;0|11 N N - 4 89744242 89744242 T C snp UTR5 -87A>G FAM13A Fam13a ENSG00000138640 family with sequence similarity 13 member A chr4:89647106-90032549 Calcium; Lung Diseases; Waist-Hip Ratio; Alkaline Phosphatase; Waist Circumference; Pulmonary Disease, Chronic Obstructive; Respiratory Function Tests; Cornea; Blood Pressure; Iron; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Arteries; Tobacco Use Disorder; Chronic Obstructive Pulmonary Disease; hypertension; Kidney Diseases Homozygotes for a null allele are resistant to cigarette-induced emphysema. Homozygotes for a different null allele show impaired insulin signaling in WAT and enhanced lipolysis leading to exacerbated WAT inflammation, high FFA levels, glucose intolerance and insulin resistance under high-fat diet. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FAM13A https://www.uniprot.org/uniprot/O94988 https://hpo.jax.org/app/browse/search?q=FAM13A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613299 http://www.informatics.jax.org/searchtool/Search.do?query=FAM13A&submit=Quick%0D%7760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM13A rs2305934 0.268171 0.1664 0 1 0 0 UTR5 UTR5 UTR5 FAM13A(NM_001265580:c.-87A>G,NM_001265579:c.-87A>G,NM_001265578:c.-87A>G,NM_001015045:c.-87A>G) FAM13A(uc003hsb.2:c.-87A>G,uc003hsd.2:c.-87A>G,uc003hsc.2:c.-87A>G,uc011cdq.2:c.-87A>G,uc003hsg.2:c.-64199A>G,uc010ikr.2:c.-41904A>G) ENSG00000138640(ENST00000395002:c.-87A>G,ENST00000503556:c.-87A>G,ENST00000508369:c.-87A>G,ENST00000513837:c.-87A>G,ENST00000504836:c.-87A>G,ENST00000507352:c.-87A>G) Na Na Na Na Na Na Het;T>C 963;52|46 Het;T>C 510;34|28 Hom;T>C 2114;0|80 N N - 4 90169925 90169925 A G snp nonsynonymous SNV T1337C V446A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GPRIN3 Gprin3 ENSG00000185477 GPRIN family member 3 chr4:90157537-90229161 Hip; Myocardial Infarction; Forced Expiratory Volume; Parkinson Disease Mice homozygous for a null allele exhibit increased motivation for reward, decreased locomotor response to cocaine, increased dendritic arborization of medium spiny neurons and decreased striatal neuron excitability. http://www.genecards.org/index.php?path=/Search/keyword/GPRIN3 https://www.ncbi.nlm.nih.gov/omim/?term=611241 http://www.informatics.jax.org/searchtool/Search.do?query=GPRIN3&submit=Quick%0D%15421ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPRIN3 rs7653897 0.623003 0.6033 0.5613 0.08 1 13 exonic exonic exonic GPRIN3 GPRIN3 ENSG00000185477 nonsynonymous SNV nonsynonymous SNV unknown GPRIN3:NM_198281:exon2:c.T1337C:p.V446A, GPRIN3:uc003hsm.1:exon2:c.T1337C:p.V446A,GPRIN3:uc021xqb.1:exon1:c.T1337C:p.V446A, UNKNOWN Het;A>G 1821;101|81 Het;A>G 1272;62|59 Hom;A>G 4133;0|144 N N - 4 91073943 91073943 G A snp intronic CCSER1 Ccser1 ENSG00000184305 coiled-coil serine rich protein 1 chr4:91048686-92523064 Cystatins; Triglycerides; Blood Pressure; Body Fat Distribution; Tobacco Use Disorder; Albuminuria; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Lipids; Body Height; Hip; Lipoproteins, HDL http://www.genecards.org/index.php?path=/Search/keyword/CCSER1 http://www.informatics.jax.org/searchtool/Search.do?query=CCSER1&submit=Quick%0D%15178ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER1 rs1812076 0.215655 0 0 1 0 0 intronic intronic intronic CCSER1 CCSER1 ENSG00000184305 Na Na Na Na Na Na Het;G>A 543;36|29 Het;G>A 854;51|45 Hom;G>A 2098;2|83 N N - 4 91234250 91234250 A G snp intronic CCSER1 Ccser1 ENSG00000184305 coiled-coil serine rich protein 1 chr4:91048686-92523064 Cystatins; Triglycerides; Blood Pressure; Body Fat Distribution; Tobacco Use Disorder; Albuminuria; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Lipids; Body Height; Hip; Lipoproteins, HDL http://www.genecards.org/index.php?path=/Search/keyword/CCSER1 http://www.informatics.jax.org/searchtool/Search.do?query=CCSER1&submit=Quick%0D%15178ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER1 rs1466391 0.765974 0.6568 0.6728 1 0 0 intronic intronic intronic CCSER1 CCSER1 ENSG00000184305 Na Na Na Na Na Na Het;A>G 272;4|9 Het;A>G 107;7|5 Hom;A>G 482;0|14 N N - 4 95040022 95040022 C A snp ncRNA_exonic LOC101929210 rs899132 0.695288 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101929210 ATOH1(dist=288880),SMARCAD1(dist=88737) ENSG00000246541 Na Na Na Na Na Na Het;C>A 388;36|20 Het;C>A 1322;48|62 Hom;C>A 3114;0|115 N N - 4 95129238 95129238 T C snp UTR5 -308T>C SMARCAD1 Smarcad1 ENSG00000163104 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chr4:95128762-95212443 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Cholesterol, LDL; Schizophrenia; Type 2 diabetes; Waist-Hip Ratio; Mental Disorders Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. GO:0000018;regulation of DNA recombination;IEP|GO:0000729;DNA double-strand break processing;IMP|GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;NAS|GO:0006338;chromatin remodeling;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009117;nucleotide metabolic process;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043044;ATP-dependent chromatin remodeling;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051260;protein homooligomerization;NAS|GO:0051304;chromosome separation;IMP|GO:0070932;histone H3 deacetylation;IMP|GO:0070933;histone H4 deacetylation;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0016363;nuclear matrix;NAS|GO:0035861;site of double-strand break;IDA|GO:0043596;nuclear replication fork;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;NAS|GO:0003677;DNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAD1 https://hpo.jax.org/app/browse/search?q=SMARCAD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612761 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAD1&submit=Quick%0D%10879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAD1 rs2276910 0.728235 0 0.6373 1 0 0 intronic UTR5 UTR5 SMARCAD1 SMARCAD1(uc010ila.3:c.-25910T>C) ENSG00000163104(ENST00000394961:c.-308T>C) Na Na Na Na Na Na Het;T>C 664;42|29 Het;T>C 678;25|26 Hom;T>C 1500;0|50 N N - 4 95173779 95173779 T C snp nonsynonymous SNV T902C V301A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SMARCAD1 Smarcad1 ENSG00000163104 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chr4:95128762-95212443 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Cholesterol, LDL; Schizophrenia; Type 2 diabetes; Waist-Hip Ratio; Mental Disorders Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. GO:0000018;regulation of DNA recombination;IEP|GO:0000729;DNA double-strand break processing;IMP|GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;NAS|GO:0006338;chromatin remodeling;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009117;nucleotide metabolic process;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043044;ATP-dependent chromatin remodeling;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051260;protein homooligomerization;NAS|GO:0051304;chromosome separation;IMP|GO:0070932;histone H3 deacetylation;IMP|GO:0070933;histone H4 deacetylation;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0016363;nuclear matrix;NAS|GO:0035861;site of double-strand break;IDA|GO:0043596;nuclear replication fork;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;NAS|GO:0003677;DNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAD1 https://hpo.jax.org/app/browse/search?q=SMARCAD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612761 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAD1&submit=Quick%0D%10879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAD1 rs7439869 0.730631 0.7019 0.6931 0.23 3 13 exonic exonic exonic SMARCAD1 SMARCAD1 ENSG00000163104 nonsynonymous SNV nonsynonymous SNV unknown SMARCAD1:NM_001128430:exon9:c.T902C:p.V301A,SMARCAD1:NM_020159:exon9:c.T902C:p.V301A,SMARCAD1:NM_001128429:exon9:c.T902C:p.V301A, SMARCAD1:uc003htb.4:exon9:c.T902C:p.V301A,SMARCAD1:uc003htd.4:exon9:c.T902C:p.V301A,SMARCAD1:uc003htc.4:exon9:c.T902C:p.V301A,SMARCAD1:uc010ila.3:exon10:c.T491C:p.V164A, UNKNOWN Het;T>C 332;26|15 Het;T>C 433;11|17 Hom;T>C 1050;0|38 N N - 4 95197520 95197520 C T snp synonymous SNV C1839T D613D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SMARCAD1 Smarcad1 ENSG00000163104 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chr4:95128762-95212443 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Cholesterol, LDL; Schizophrenia; Type 2 diabetes; Waist-Hip Ratio; Mental Disorders Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. GO:0000018;regulation of DNA recombination;IEP|GO:0000729;DNA double-strand break processing;IMP|GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;NAS|GO:0006338;chromatin remodeling;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009117;nucleotide metabolic process;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043044;ATP-dependent chromatin remodeling;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051260;protein homooligomerization;NAS|GO:0051304;chromosome separation;IMP|GO:0070932;histone H3 deacetylation;IMP|GO:0070933;histone H4 deacetylation;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0016363;nuclear matrix;NAS|GO:0035861;site of double-strand break;IDA|GO:0043596;nuclear replication fork;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;NAS|GO:0003677;DNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAD1 https://hpo.jax.org/app/browse/search?q=SMARCAD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612761 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAD1&submit=Quick%0D%10879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAD1 rs6823404 0.557109 0.5118 0.5892 1 0 0 exonic exonic exonic SMARCAD1 SMARCAD1 ENSG00000163104 synonymous SNV synonymous SNV unknown SMARCAD1:NM_001128430:exon15:c.C1839T:p.D613D,SMARCAD1:NM_020159:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001128429:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001254949:exon7:c.C549T:p.D183D, SMARCAD1:uc003htb.4:exon15:c.C1839T:p.D613D,SMARCAD1:uc003htd.4:exon15:c.C1839T:p.D613D,SMARCAD1:uc011cdw.2:exon7:c.C549T:p.D183D,SMARCAD1:uc003htc.4:exon15:c.C1839T:p.D613D,SMARCAD1:uc010ila.3:exon16:c.C1428T:p.D476D, UNKNOWN Het;C>T 1041;26|47 Het;C>T 518;44|26 Hom;C>T 2415;0|90 N N - 4 95206252 95206256 TTATC T indel intronic SMARCAD1 Smarcad1 ENSG00000163104 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chr4:95128762-95212443 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Cholesterol, LDL; Schizophrenia; Type 2 diabetes; Waist-Hip Ratio; Mental Disorders Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. GO:0000018;regulation of DNA recombination;IEP|GO:0000729;DNA double-strand break processing;IMP|GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;NAS|GO:0006338;chromatin remodeling;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009117;nucleotide metabolic process;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043044;ATP-dependent chromatin remodeling;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051260;protein homooligomerization;NAS|GO:0051304;chromosome separation;IMP|GO:0070932;histone H3 deacetylation;IMP|GO:0070933;histone H4 deacetylation;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0016363;nuclear matrix;NAS|GO:0035861;site of double-strand break;IDA|GO:0043596;nuclear replication fork;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;NAS|GO:0003677;DNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAD1 https://hpo.jax.org/app/browse/search?q=SMARCAD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612761 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAD1&submit=Quick%0D%10879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAD1 rs111828975 0.573482 0 0.5954 1 0 0 intronic intronic intronic SMARCAD1 SMARCAD1 ENSG00000163104 Na Na Na Na Na Na Het;-TATC 2949;69|77 Het;-TATC 1961;70|55 Hom;-TATC 6625;0|151 N N - 4 95211610 95211610 T C snp UTR3 *925T>C SMARCAD1 Smarcad1 ENSG00000163104 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chr4:95128762-95212443 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Cholesterol, LDL; Schizophrenia; Type 2 diabetes; Waist-Hip Ratio; Mental Disorders Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. GO:0000018;regulation of DNA recombination;IEP|GO:0000729;DNA double-strand break processing;IMP|GO:0006281;DNA repair;IEA|GO:0006325;chromatin organization;NAS|GO:0006338;chromatin remodeling;NAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009117;nucleotide metabolic process;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043044;ATP-dependent chromatin remodeling;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0051260;protein homooligomerization;NAS|GO:0051304;chromosome separation;IMP|GO:0070932;histone H3 deacetylation;IMP|GO:0070933;histone H4 deacetylation;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0016363;nuclear matrix;NAS|GO:0035861;site of double-strand break;IDA|GO:0043596;nuclear replication fork;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;NAS|GO:0003677;DNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMARCAD1 https://hpo.jax.org/app/browse/search?q=SMARCAD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612761 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCAD1&submit=Quick%0D%10879ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCAD1 rs8336 0.604233 0 0.6081 1 0 0 UTR3 UTR3 UTR3 SMARCAD1(NM_001128430:c.*925T>C,NM_020159:c.*925T>C,NM_001128429:c.*925T>C,NM_001254949:c.*925T>C) SMARCAD1(uc003htb.4:c.*925T>C,uc003htc.4:c.*925T>C,uc003htd.4:c.*925T>C,uc010ila.3:c.*925T>C,uc011cdw.2:c.*925T>C) ENSG00000163104(ENST00000359052:c.*925T>C,ENST00000457823:c.*925T>C,ENST00000354268:c.*925T>C) Na Na Na Na Na Na Het;T>C 2407;71|95 Het;T>C 2497;143|110 Hom;T>C 7543;0|266 N N - 4 96306740 96306740 G A snp intronic UNC5C Unc5c ENSG00000182168 unc-5 netrin receptor C chr4:96083655-96470357 This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008] Alcoholism; Insulin Resistance; schizophrenia; Parkinson's disease ; Lymphocytes; Myocardial Infarction; Neutrophils; Tobacco Use Disorder; Glucose; Body Height; tau Proteins Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain. Netrin mediated repulsion signals GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007420;brain development;TAS|GO:0030334;regulation of cell migration;IEA|GO:0033564;anterior/posterior axon guidance;IEA|GO:0038007;netrin-activated signaling pathway;IEA|GO:0043065;positive regulation of apoptotic process;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA GO:0005042;netrin receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/UNC5C https://www.ncbi.nlm.nih.gov/omim/?term=603610 http://www.informatics.jax.org/searchtool/Search.do?query=UNC5C&submit=Quick%0D%14732ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC5C rs17437798 0.608227 0 0 1 0 0 intronic intronic intronic UNC5C UNC5C ENSG00000182168 Na Na Na Na Na Na Het;G>A 731;26|33 Het;G>A 703;34|35 Hom;G>A 1896;0|67 N N - 4 9639831 9639831 G T snp intergenic MIR548I2 rs6812634 0.113219 0 0 1 0 0 intergenic intergenic intergenic MIR548I2(dist=81894),DRD5(dist=143427) MIR548I2(dist=81894),AB059369(dist=28699) ENSG00000265901(dist=37780),ENSG00000250942(dist=39101) Na Na Na Na Na Na Het;G>T 441;11|20 Ref Hom;G>T 242;0|6 N N - 4 99679279 99679279 G A snp intergenic TSPAN5 Tspan5 ENSG00000168785 tetraspanin 5 chr4:99391518-99579780 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] Apolipoproteins B; Tobacco Use Disorder; Cholesterol; Neutrophils; Hip; Exercise Test; Respiratory Function Tests; Cholesterol, LDL GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN5 https://www.ncbi.nlm.nih.gov/omim/?term=613136 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN5&submit=Quick%0D%12342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN5 rs11940246 0.559305 0 0 1 0 0 intergenic intergenic intergenic TSPAN5(dist=99467),EIF4E(dist=120328) TSPAN5(dist=99467),AK098333(dist=113557) ENSG00000227118(dist=16897),ENSG00000151247(dist=113556) Na Na Na Na Na Na Het;G>A 171;27|11 Het;G>A 498;22|21 Hom;G>A 1146;0|34 N N - 5 101188017 101188017 A G snp intergenic ST8SIA4 St8sia4 ENSG00000113532 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 chr5:100142639-100238970 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Inflammatory Bowel Diseases; Blood Pressure; schizophrenia; Glomerular Filtration Rate; Body Mass Index; Cholesterol, HDL; Erythrocyte Indices; Echocardiography; Hypertension|Pre-Eclampsia|Pregnancy Complications; Lipoproteins, VLDL; Tobacco Use Disorder; Conduct Disorder; Fibrinogen; Type 2 Diabetes| edema | rosiglitazone; Albuminuria; Body Weight; Carotid Arteries; Creatinine Homozygous null adult mice exhibit impaired long term potentiation and impaired long term depression in hippocampal CA1 synapses. NCAM1 interactions GO:0001574;ganglioside biosynthetic process;IDA|GO:0006464;cellular protein modification process;TAS|GO:0006486;protein glycosylation;IDA|GO:0006491;N-glycan processing;IDA|GO:0007399;nervous system development;TAS|GO:0009311;oligosaccharide metabolic process;IDA|GO:0097503;sialylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA GO:0003828;alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;TAS|GO:0008373;sialyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0033691;sialic acid binding;IC http://www.genecards.org/index.php?path=/Search/keyword/ST8SIA4 https://www.uniprot.org/uniprot/Q92187 https://www.ncbi.nlm.nih.gov/omim/?term=602547 http://www.informatics.jax.org/searchtool/Search.do?query=ST8SIA4&submit=Quick%0D%4373ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ST8SIA4 rs977918 0.652756 0 0 1 0 0 intergenic intergenic intergenic ST8SIA4(dist=949028),SLCO4C1(dist=381675) ST8SIA4(dist=949030),SLCO4C1(dist=381675) ENSG00000251261(dist=35533),ENSG00000249495(dist=123983) Na Na Na Na Na Na Het;A>G 316;13|15 Het;A>G 340;22|17 Hom;A>G 1260;0|48 N N - 5 101709314 101709314 T C snp intronic SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs6596480 0.585264 0 0 1 0 0 intronic intronic intronic SLCO6A1 SLCO6A1 ENSG00000205359 Na Na Na Na Na Na Het;T>C 78;13|4 Het;T>C 173;11|7 Hom;T>C 380;0|11 N N - 5 101724307 101724307 A T snp intronic SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs6873305 0.581669 0 0 1 0 0 intronic intronic intronic SLCO6A1 SLCO6A1 ENSG00000205359 Na Na Na Na Na Na Het;A>T 402;13|13 Het;A>T 56;15|4 Hom;A>T 933;0|27 N N - 5 101726648 101726648 C A snp intronic SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs6874612 0.585463 0.6498 0.6396 1 0 0 intronic intronic intronic SLCO6A1 SLCO6A1 ENSG00000205359 Na Na Na Na Na Na Het;C>A 399;14|16 Het;C>A 292;13|14 Hom;C>A 1402;0|51 N N - 5 101726851 101726851 A G snp intronic SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs1452065 0.585463 0 0 1 0 0 intronic intronic intronic SLCO6A1 SLCO6A1 ENSG00000205359 Na Na Na Na Na Na Het;A>G 223;7|8 Het;A>G 278;3|10 Hom;A>G 687;0|22 N N - 5 101755430 101755430 T C snp intronic SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs1542296 0.582468 0 0 1 0 0 intronic intronic intronic SLCO6A1 SLCO6A1 ENSG00000205359 Na Na Na Na Na Na Het;T>C 32;5|2 Het;T>C 113;1|4 Hom;T>C 176;0|5 N N - 5 101795490 101795490 A G snp intronic SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs11746217 0.586462 0.6664 0.6410 1 0 0 intronic intronic intronic SLCO6A1 SLCO6A1 ENSG00000205359 Na Na Na Na Na Na Het;A>G 959;35|45 Het;A>G 1361;80|70 Hom;A>G 4022;1|144 N N - 5 10255083 10255083 A C snp intronic CCT5 Cct5 ENSG00000150753 chaperonin containing TCP1 subunit 5 chr5:10250033-10266524 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015] Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CCT5 https://www.uniprot.org/uniprot/P48643 https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610150 http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5 rs2578616 0.685903 0 0 1 0 0 intronic intronic intronic CCT5 CCT5 ENSG00000150753 Na Na Na Na Na Na Het;A>C 125;5|4 Ref Hom;A>C 107;0|3 N N - 5 10255096 10255096 C CCT indel intronic CCT5 Cct5 ENSG00000150753 chaperonin containing TCP1 subunit 5 chr5:10250033-10266524 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015] Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CCT5 https://www.uniprot.org/uniprot/P48643 https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610150 http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5 rs3070506 0.685903 0 0 1 0 0 intronic intronic intronic CCT5 CCT5 ENSG00000150753 Na Na Na Na Na Na Het;+CT 119;4|4 Ref Hom;+CT 98;0|3 N N - 5 10306446 10306446 C T snp intronic CMBL Cmbl ENSG00000164237 carboxymethylenebutenolidase homolog chr5:10275987-10308138 CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010] Arteries Phase I - Functionalization of compounds GO:0006805;xenobiotic metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0016787;hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CMBL https://www.ncbi.nlm.nih.gov/omim/?term=613379 http://www.informatics.jax.org/searchtool/Search.do?query=CMBL&submit=Quick%0D%11249ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMBL rs11948322 0.379393 0 0 1 0 0 intronic intronic intronic CMBL CMBL ENSG00000164237 Na Na Na Na Na Na Het;C>T 92;2|5 Ref Hom;C>T 71;0|4 N N - 5 103095936 103095936 A G snp intergenic NUDT12 Nudt12 ENSG00000112874 nudix hydrolase 12 chr5:102884556-102898494 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] Platelet Count; Waist Circumference; Blood Proteins; Arteries; Alanine Transaminase; Tobacco Use Disorder; Fibrinogen; Body Height; Hip; Body Weights and Measures; C-Reactive Protein; Audiometry, Pure-Tone Nicotinamide salvaging GO:0006742;NADP catabolic process;IDA|GO:0019677;NAD catabolic process;IDA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS GO:0000210;NAD+ diphosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0035529;NADH pyrophosphatase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUDT12 https://www.uniprot.org/uniprot/Q9BQG2 https://www.ncbi.nlm.nih.gov/omim/?term=609232 http://www.informatics.jax.org/searchtool/Search.do?query=NUDT12&submit=Quick%0D%4300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT12 rs2547536 0.695487 0 0 1 0 0 intergenic intergenic intergenic NUDT12(dist=197434),RAB9BP1(dist=1339239) NUDT12(dist=197446),RAB9BP1(dist=1339239) ENSG00000112874(dist=197442),ENSG00000251026(dist=319676) Na Na Na Na Na Na Het;A>G 749;53|36 Het;A>G 1151;55|52 Hom;A>G 4635;0|174 N N - 5 103096061 103096061 G C snp intergenic NUDT12 Nudt12 ENSG00000112874 nudix hydrolase 12 chr5:102884556-102898494 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] Platelet Count; Waist Circumference; Blood Proteins; Arteries; Alanine Transaminase; Tobacco Use Disorder; Fibrinogen; Body Height; Hip; Body Weights and Measures; C-Reactive Protein; Audiometry, Pure-Tone Nicotinamide salvaging GO:0006742;NADP catabolic process;IDA|GO:0019677;NAD catabolic process;IDA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS GO:0000210;NAD+ diphosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0035529;NADH pyrophosphatase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUDT12 https://www.uniprot.org/uniprot/Q9BQG2 https://www.ncbi.nlm.nih.gov/omim/?term=609232 http://www.informatics.jax.org/searchtool/Search.do?query=NUDT12&submit=Quick%0D%4300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUDT12 rs490319 0.729034 0 0 1 0 0 intergenic intergenic intergenic NUDT12(dist=197559),RAB9BP1(dist=1339114) NUDT12(dist=197571),RAB9BP1(dist=1339114) ENSG00000112874(dist=197567),ENSG00000251026(dist=319551) Na Na Na Na Na Na Het;G>C 412;19|18 Het;G>C 429;25|17 Hom;G>C 1920;0|61 N N - 5 105285863 105285863 A G snp intergenic RAB9BP1 rs12523349 0.434105 0 0 1 0 0 intergenic intergenic intergenic RAB9BP1(dist=850064),LOC102467213(dist=865035) RAB9BP1(dist=850064),EFNA5(dist=1426727) ENSG00000201790(dist=27054),ENSG00000251204(dist=465414) Na Na Na Na Na Na Het;A>G 471;19|23 Het;A>G 377;27|17 Hom;A>G 1548;0|55 N N - 5 105751502 105751502 A G snp ncRNA_exonic AC027313.1 rs11958027 0.639177 0 0 1 0 0 intergenic intergenic ncRNA_exonic RAB9BP1(dist=1315703),LOC102467213(dist=399396) RAB9BP1(dist=1315703),EFNA5(dist=961088) ENSG00000251204 Na Na Na Na Na Na Het;A>G 743;13|30 Het;A>G 301;12|14 Hom;A>G 1545;0|54 N N - 5 105753066 105753066 T C snp upstream AC027313.1 rs959194 0.6252 0 0 1 0 0 intergenic intergenic upstream RAB9BP1(dist=1317267),LOC102467213(dist=397832) RAB9BP1(dist=1317267),EFNA5(dist=959524) ENSG00000251204 Na Na Na Na Na Na Het;T>C 373;10|15 Het;T>C 126;8|6 Hom;T>C 339;0|14 N N - 5 1065297 1065297 C T snp intronic SLC12A7 Slc12a7 ENSG00000276482 solute carrier family 12 member 7 chr5:1050499-1112150 Platelet Count; Erythrocyte Indices; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A7 https://www.ncbi.nlm.nih.gov/omim/?term=604879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A7&submit=Quick%0D%21624ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A7 rs62331176 0.363419 0 0 1 0 0 intronic intronic intronic SLC12A7 SLC12A7 ENSG00000113504 Na Na Na Na Na Na Het;C>T 464;4|13 Ref Hom;C>T 287;0|7 N N - 5 1065301 1065301 G A snp intronic SLC12A7 Slc12a7 ENSG00000276482 solute carrier family 12 member 7 chr5:1050499-1112150 Platelet Count; Erythrocyte Indices; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A7 https://www.ncbi.nlm.nih.gov/omim/?term=604879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A7&submit=Quick%0D%21624ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A7 rs79273934 0.363419 0 0 1 0 0 intronic intronic intronic SLC12A7 SLC12A7 ENSG00000113504 Na Na Na Na Na Na Het;G>A 464;4|13 Ref Hom;G>A 332;0|7 N N - 5 1065306 1065308 ACT A indel intronic SLC12A7 Slc12a7 ENSG00000276482 solute carrier family 12 member 7 chr5:1050499-1112150 Platelet Count; Erythrocyte Indices; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A7 https://www.ncbi.nlm.nih.gov/omim/?term=604879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A7&submit=Quick%0D%21624ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A7 rs537316649 0.322883 0 0 1 0 0 intronic intronic intronic SLC12A7 SLC12A7 ENSG00000113504 Na Na Na Na Na Na Het;-CT 455;4|13 Ref Hom;-CT 323;0|8 N N - 5 1065310 1065310 A C snp intronic SLC12A7 Slc12a7 ENSG00000276482 solute carrier family 12 member 7 chr5:1050499-1112150 Platelet Count; Erythrocyte Indices; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A7 https://www.ncbi.nlm.nih.gov/omim/?term=604879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A7&submit=Quick%0D%21624ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A7 rs550318460 0.322883 0 0 1 0 0 intronic intronic intronic SLC12A7 SLC12A7 ENSG00000113504 Na Na Na Na Na Na Het;A>C 422;4|12 Ref Hom;A>C 332;0|8 N N - 5 1065311 1065320 GGAGACACAC G indel intronic SLC12A7 Slc12a7 ENSG00000276482 solute carrier family 12 member 7 chr5:1050499-1112150 Platelet Count; Erythrocyte Indices; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006884;cell volume homeostasis;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A7 https://www.ncbi.nlm.nih.gov/omim/?term=604879 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A7&submit=Quick%0D%21624ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A7 Na 0 0 0 1 0 0 intronic intronic intronic SLC12A7 SLC12A7 ENSG00000113504 Na Na Na Na Na Na Het;-GAGACACAC 413;4|12 Ref Hom;-GAGACACAC 324;0|8 N N - 5 107560101 107560101 A G snp intronic FBXL17 Fbxl17 ENSG00000145743 F-box and leucine rich repeat protein 17 chr5:107194736-107717799 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL http://www.genecards.org/index.php?path=/Search/keyword/FBXL17 https://www.uniprot.org/uniprot/Q9UF56 https://www.ncbi.nlm.nih.gov/omim/?term=609083 http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17 rs2044710 0.398163 0 0 1 0 0 intronic intronic intronic FBXL17 FBXL17 ENSG00000145743 Na Na Na Na Na Na Het;A>G 64;4|3 Het;A>G 159;1|5 Hom;A>G 139;0|5 N N - 5 107609749 107609749 A T snp intronic FBXL17 Fbxl17 ENSG00000145743 F-box and leucine rich repeat protein 17 chr5:107194736-107717799 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL http://www.genecards.org/index.php?path=/Search/keyword/FBXL17 https://www.uniprot.org/uniprot/Q9UF56 https://www.ncbi.nlm.nih.gov/omim/?term=609083 http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17 rs10070394 0.460264 0 0 1 0 0 intronic intronic intronic FBXL17 FBXL17 ENSG00000145743 Na Na Na Na Na Na Het;A>T 125;2|5 Het;A>T 95;2|4 Hom;A>T 190;0|6 N N - 5 107683989 107683989 T A snp intronic FBXL17 Fbxl17 ENSG00000145743 F-box and leucine rich repeat protein 17 chr5:107194736-107717799 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL http://www.genecards.org/index.php?path=/Search/keyword/FBXL17 https://www.uniprot.org/uniprot/Q9UF56 https://www.ncbi.nlm.nih.gov/omim/?term=609083 http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17 rs3756573 0.261981 0 0 1 0 0 intronic intronic intronic FBXL17 FBXL17 ENSG00000145743 Na Na Na Na Na Na Het;T>A 356;9|13 Het;T>A 220;8|8 Hom;T>A 280;0|8 N N - 5 107703446 107703449 CAAG C indel intronic FBXL17 Fbxl17 ENSG00000145743 F-box and leucine rich repeat protein 17 chr5:107194736-107717799 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Heart Rate; Body Weights and Measures; Insulin Resistance; Adiponectin; Tobacco Use Disorder; Hip; Cholesterol; Cholesterol, HDL http://www.genecards.org/index.php?path=/Search/keyword/FBXL17 https://www.uniprot.org/uniprot/Q9UF56 https://www.ncbi.nlm.nih.gov/omim/?term=609083 http://www.informatics.jax.org/searchtool/Search.do?query=FBXL17&submit=Quick%0D%8779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL17 rs34546708 0.361422 0 0 1 0 0 intronic intronic intronic FBXL17 FBXL17 ENSG00000145743 Na Na Na Na Na Na Het;-AAG 116;5|4 Het;-AAG 102;7|4 Hom;-AAG 720;0|17 N N - 5 108672946 108672946 C T snp nonsynonymous SNV G2113A A705T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PJA2 Pja2 ENSG00000198961 praja ring finger ubiquitin ligase 2 chr5:108670410-108745695 Antigen processing: Ubiquitination & Proteasome degradation GO:0007616;long-term memory;ISS|GO:0010738;regulation of protein kinase A signaling;IMP|GO:0016567;protein ubiquitination;IDA|GO:0035329;hippo signaling;IEA GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0034236;protein kinase A catalytic subunit binding;IMP|GO:0034237;protein kinase A regulatory subunit binding;IMP|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PJA2 http://www.informatics.jax.org/searchtool/Search.do?query=PJA2&submit=Quick%0D%17102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PJA2 rs246105 0.298922 0.2099 0.2756 0.15 2 13 exonic exonic exonic PJA2 PJA2 ENSG00000198961 nonsynonymous SNV nonsynonymous SNV unknown PJA2:NM_014819:exon10:c.G2113A:p.A705T, PJA2:uc003kos.4:exon10:c.G2113A:p.A705T, UNKNOWN Het;C>T 453;59|25 Het;C>T 1058;28|48 Hom;C>T 2412;0|94 N N - 5 108922698 108922698 C G snp intergenic PJA2 Pja2 ENSG00000198961 praja ring finger ubiquitin ligase 2 chr5:108670410-108745695 Antigen processing: Ubiquitination & Proteasome degradation GO:0007616;long-term memory;ISS|GO:0010738;regulation of protein kinase A signaling;IMP|GO:0016567;protein ubiquitination;IDA|GO:0035329;hippo signaling;IEA GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0034236;protein kinase A catalytic subunit binding;IMP|GO:0034237;protein kinase A regulatory subunit binding;IMP|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PJA2 http://www.informatics.jax.org/searchtool/Search.do?query=PJA2&submit=Quick%0D%17102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PJA2 rs6874622 0 0 0 1 0 0 intergenic intergenic intergenic PJA2(dist=177023),MAN2A1(dist=102369) PJA2(dist=177023),MAN2A1(dist=102458) ENSG00000248440(dist=87889),ENSG00000214794(dist=1341) Na Na Na Na Na Na Het;C>G 238;5|9 Het;C>G 382;13|15 Hom;C>G 504;0|15 N N - 5 112064337 112064338 GT G indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs397999014 0.546126 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-T 2448;106|123 Het;-T 1460;101|79 Hom;-T 5363;2|214 N N - 5 112074269 112074269 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2019720 0.435903 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 225;37|13 Het;A>G 442;22|20 Hom;A>G 1574;0|53 N N - 5 112074356 112074356 C T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2020383 0.601438 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>T 420;43|22 Het;C>T 264;24|15 Hom;C>T 1144;0|40 N N - 5 112074722 112074722 C G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs1974786 0.436502 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>G 489;30|23 Het;C>G 520;21|21 Hom;C>G 1092;2|43 N N - 5 112077447 112077447 T A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs4705608 0.430911 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>A 499;18|22 Het;T>A 438;17|16 Hom;T>A 1062;0|38 N N - 5 112077920 112077920 G C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs4705610 0 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>C 781;52|42 Het;G>C 1253;48|57 Hom;G>C 2543;3|97 N N - 5 112079117 112079118 AT A indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11341302 0.584265 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-T 1682;90|83 Het;-T 1634;110|83 Hom;-T 6996;1|261 N N - 5 112079882 112079882 T G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs10071425 0.436502 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>G 162;27|12 Het;T>G 161;21|11 Hom;T>G 914;0|35 N N - 5 112080827 112080827 G GTA indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs10692763 0.602436 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;+TA 1193;31|32 Het;+TA 1139;14|29 Hom;+TA 1737;0|40 N N - 5 112081924 112081924 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs6594646 0.436502 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 342;11|11 Het;A>G 149;9|5 Hom;A>G 535;0|19 N N - 5 112082938 112082938 A AG indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs397792774 0.626797 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;+G 547;19|23 Het;+G 731;30|31 Hom;+G 1686;0|55 N N - 5 112085611 112085611 T G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs28373740 0.436901 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>G 1486;97|87 Het;T>G 1361;114|86 Hom;T>G 4046;14|194 N N - 5 112086165 112086165 T A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs12518091 0.435503 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>A 613;56|30 Het;T>A 593;50|25 Hom;T>A 2670;1|90 N N - 5 112086185 112086185 A ATGTT indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs142386207 0.433307 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;+TGTT 1195;65|34 Het;+TGTT 1192;66|34 Hom;+TGTT 4582;0|103 N N - 5 112087327 112087327 T G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11954856 0.619409 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>G 681;56|39 Het;T>G 809;61|43 Hom;T>G 2581;0|100 N N - 5 112089282 112089282 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11241183 0 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>C 212;17|11 Het;T>C 446;13|17 Hom;T>C 1402;0|52 N N - 5 112089480 112089480 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2439591 0 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>C 354;33|16 Het;T>C 1128;46|47 Hom;T>C 2527;0|89 N N - 5 112091704 112091704 C G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs4099181 0.604832 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>G 1227;122|62 Het;C>G 1826;120|87 Hom;C>G 4784;0|174 N N - 5 112094010 112094017 GTTTGTTT G indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs67638832 0.438299 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-TTTGTTT 454;26|14 Het;-TTTGTTT 879;11|24 Hom;-TTTGTTT 1407;0|32 N N - 5 112095775 112095775 T A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs4705624 0.433706 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>A 1187;40|51 Het;T>A 1191;40|54 Hom;T>A 2373;0|89 N N - 5 112097234 112097234 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs28578275 0.43111 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 230;25|14 Het;G>A 390;20|18 Hom;G>A 987;0|39 N N - 5 112098938 112098938 T A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs9647582 0.437899 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>A 125;18|10 Het;T>A 245;27|13 Hom;T>A 1019;0|35 N N - 5 112099028 112099028 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs9647583 0.437101 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 373;36|18 Het;A>G 304;45|19 Hom;A>G 1325;0|45 N N - 5 112099059 112099060 GT G indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11367486 0.671925 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-T 286;30|18 Het;-T 255;34|18 Hom;-T 965;0|39 N N - 5 112100027 112100027 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs6867243 0.621006 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 419;22|23 Het;G>A 304;22|16 Hom;G>A 730;0|30 N N - 5 112101457 112101457 G T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs12659119 0.542931 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>T 406;18|18 Het;G>T 464;27|24 Hom;G>T 1183;0|45 N N - 5 112101793 112101793 C A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2464805 0.737819 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>A 591;25|26 Het;C>A 733;39|38 Hom;C>A 1704;0|65 N N - 5 112104297 112104297 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs35414976 0.438299 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 38;4|2 Het;A>G 116;4|4 Hom;A>G 352;0|14 N N - 5 112105217 112105218 TG T indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs71593230 0.431709 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-G 908;20|24 Het;-G 812;25|22 Hom;-G 1898;0|43 N N - 5 112105223 112105223 A T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs77552656 0.432907 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>T 914;22|24 Het;A>T 821;25|22 Hom;A>T 1907;0|43 N N - 5 112107058 112107058 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11241185 0.434904 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 1065;66|57 Het;G>A 1064;66|53 Hom;G>A 4410;2|175 N N - 5 112107726 112107726 C T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2439589 0.432508 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>T 407;39|24 Het;C>T 772;41|37 Hom;C>T 1800;4|70 N N - 5 112108865 112108865 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2707763 0.455871 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>C 807;26|34 Het;T>C 613;24|28 Hom;T>C 1698;0|59 N N - 5 112109779 112109779 G C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs1816769 0.631789 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>C 566;34|27 Het;G>C 317;42|20 Hom;G>C 1408;0|53 N N - 5 112111866 112111866 G C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs458906 0.431909 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>C 973;38|43 Het;G>C 820;47|40 Hom;G>C 2334;0|87 N N - 5 112113527 112113527 A T snp ncRNA_exonic CBX3P3 rs467033 0.438099 0 0 1 0 0 intronic intronic ncRNA_exonic APC APC ENSG00000250045 Na Na Na Na Na Na Het;A>T 810;42|35 Het;A>T 448;39|25 Hom;A>T 1245;0|46 N N - 5 112113735 112113735 C T snp ncRNA_exonic CBX3P3 rs396321 0.445487 0 0 1 0 0 intronic intronic ncRNA_exonic APC APC ENSG00000250045 Na Na Na Na Na Na Het;C>T 450;14|13 Het;C>T 509;17|14 Hom;C>T 672;0|16 N N - 5 112113760 112113760 T C snp ncRNA_exonic CBX3P3 rs401908 0.748403 0 0 1 0 0 intronic intronic ncRNA_exonic APC APC ENSG00000250045 Na Na Na Na Na Na Het;T>C 401;11|11 Het;T>C 497;20|14 Hom;T>C 692;0|16 N N - 5 112113772 112113772 G A snp ncRNA_exonic CBX3P3 rs414098 0.436102 0 0 1 0 0 intronic intronic ncRNA_exonic APC APC ENSG00000250045 Na Na Na Na Na Na Het;G>A 275;11|8 Het;G>A 461;19|13 Hom;G>A 692;0|16 N N - 5 112116773 112116773 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2289484 0.452077 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 393;29|18 Het;A>G 507;24|22 Hom;A>G 2139;0|78 N N - 5 112118195 112118195 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2431242 0.617212 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 1751;86|81 Het;G>A 1661;72|74 Hom;G>A 4060;0|150 N N - 5 112118956 112118956 C T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2431512 0.433506 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>T 1498;84|65 Het;C>T 1178;86|60 Hom;C>T 3335;2|129 N N - 5 112129194 112129195 AC A indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11291630 0.695288 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-C 528;14|16 Het;-C 570;10|17 Hom;-C 1784;0|45 N N - 5 112130086 112130086 C A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs1734243 0 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>A 1259;53|57 Het;C>A 934;52|44 Hom;C>A 2963;0|109 N N - 5 112135090 112135090 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs518013 0.443091 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 858;39|39 Het;G>A 552;29|24 Hom;G>A 1716;0|61 N N - 5 112135737 112135737 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2251913 0.438898 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 1014;36|46 Het;A>G 804;39|35 Hom;A>G 2980;0|111 N N - 5 112136204 112136204 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs511906 0.438898 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 731;36|35 Het;A>G 890;33|37 Hom;A>G 1795;0|65 N N - 5 112138734 112138734 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs529076 0.746605 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 136;5|5 Het;G>A 58;7|3 Hom;G>A 311;0|9 N N - 5 112138888 112138888 G C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2952615 0.665335 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>C 647;26|30 Het;G>C 762;64|42 Hom;G>C 2445;2|91 N N - 5 112139745 112139745 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545158 0.438099 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 563;20|20 Het;A>G 576;27|24 Hom;A>G 2057;0|64 N N - 5 112144023 112144023 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2431241 0.441893 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 1464;98|66 Het;A>G 1648;67|74 Hom;A>G 4144;0|150 N N - 5 112144444 112144444 A T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs1914 0.434904 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>T 1300;72|65 Het;A>T 1030;61|53 Hom;A>T 3998;0|146 N N - 5 112144954 112144954 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs395266 0.739217 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>C 160;3|5 Ref Hom;T>C 228;0|6 N N - 5 112145261 112145261 C A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2546106 0.432308 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>A 563;36|27 Het;C>A 364;32|21 Hom;C>A 1238;0|45 N N - 5 112146197 112146197 T G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs390092 0.436102 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>G 524;60|29 Het;T>G 632;42|30 Hom;T>G 1740;0|64 N N - 5 112146720 112146722 TCA T indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs574202684 0.596645 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-CA 386;5|13 Het;-CA 36;11|3 Hom;-CA 491;0|14 N N - 5 112149757 112149757 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545169 0.785144 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>C 1781;75|84 Het;T>C 1757;81|85 Hom;T>C 4282;0|154 N N - 5 112153119 112153119 C T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545165 0.694688 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>T 202;33|13 Het;C>T 554;18|27 Hom;C>T 1309;0|48 N N - 5 112153665 112153665 C T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545164 0.695088 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>T 943;41|46 Het;C>T 1163;60|55 Hom;C>T 2428;1|91 N N - 5 112153996 112153996 C G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs563556 0.73722 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>G 1243;69|56 Het;C>G 1038;51|45 Hom;C>G 4158;0|157 N N - 5 112154151 112154154 ATAT A indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs397728589 0.695687 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-TAT 367;16|12 Het;-TAT 201;12|7 Hom;-TAT 458;0|11 N N - 5 112154303 112154303 T G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs464708 0.705671 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;T>G 369;26|14 Het;T>G 388;14|17 Hom;T>G 677;0|25 N N - 5 112155504 112155504 C G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545163 0.73722 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>G 1996;91|92 Het;C>G 1260;86|62 Hom;C>G 4873;0|186 N N - 5 112155793 112155793 G C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs501250 0.683906 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>C 360;26|18 Het;G>C 85;28|8 Hom;G>C 1000;0|38 N N - 5 112158431 112158431 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545162 0.679113 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;G>A 1490;75|64 Het;G>A 1308;61|58 Hom;G>A 4237;0|157 N N - 5 112159470 112159470 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2546107 0.435703 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 1627;70|80 Het;A>G 1274;69|65 Hom;A>G 3260;0|119 N N - 5 112159562 112159562 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2545159 0.816294 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;A>G 742;37|32 Het;A>G 461;24|19 Hom;A>G 1672;0|52 N N - 5 112160442 112160463 CTCATTAGTATACCAGGCCAAG C indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11274627 0.623802 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;-TCATTAGTATACCAGGCCAAG 1089;59|31 Het;-TCATTAGTATACCAGGCCAAG 1013;56|30 Hom;-TCATTAGTATACCAGGCCAAG 3256;0|75 N N - 5 112161469 112161469 C A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2546108 0.438099 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982 Na Na Na Na Na Na Het;C>A 943;70|50 Het;C>A 675;66|36 Hom;C>A 2905;0|116 N N - 5 112162854 112162854 T C snp synonymous SNV T1458C Y486Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2229992 0.509984 0.4622 0.5780 1 0 0 exonic exonic exonic APC APC ENSG00000134982 synonymous SNV synonymous SNV unknown APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y,APC:NM_001127511:exon10:c.T1404C:p.Y468Y, APC:uc003kpz.4:exon13:c.T1458C:p.Y486Y,APC:uc010jbz.3:exon13:c.T609C:p.Y203Y,APC:uc011cvt.2:exon10:c.T1404C:p.Y468Y,APC:uc003kpy.4:exon12:c.T1458C:p.Y486Y, UNKNOWN Het;T>C 2233;95|101 Het;T>C 2734;96|120 Hom;T>C 7165;2|271 N N - 5 112163238 112163238 G GT indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs35305379 0.677117 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;+T 422;14|17 Het;+T 61;7|4 Hom;+T 373;0|12 N N - 5 112164561 112164561 G A snp synonymous SNV G1635A A545A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs351771 0.666134 0.5864 0.6481 1 0 0 exonic exonic exonic APC APC ENSG00000134982,ENSG00000258864 synonymous SNV synonymous SNV unknown APC:NM_000038:exon14:c.G1635A:p.A545A,APC:NM_001127510:exon15:c.G1635A:p.A545A,APC:NM_001127511:exon12:c.G1581A:p.A527A, APC:uc003kpz.4:exon15:c.G1635A:p.A545A,APC:uc010jbz.3:exon15:c.G786A:p.A262A,APC:uc011cvt.2:exon12:c.G1581A:p.A527A,APC:uc003kpy.4:exon14:c.G1635A:p.A545A, UNKNOWN Het;G>A 999;70|52 Het;G>A 1064;71|55 Hom;G>A 2957;0|111 N N - 5 112164862 112164862 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs351772 0.439896 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;G>A 671;23|27 Het;G>A 758;15|35 Hom;G>A 975;0|35 N N - 5 112166044 112166047 AACT A indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs34481414 0.619808 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;-ACT 125;2|4 Het;-ACT 332;3|9 Hom;-ACT 368;0|9 N N - 5 112166862 112166862 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2253987 0.432109 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;G>A 129;10|7 Het;G>A 237;8|9 Hom;G>A 472;0|18 N N - 5 112167130 112167130 T G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs544243 0.690096 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;T>G 1406;27|60 Het;T>G 1343;32|59 Hom;T>G 2252;0|85 N N - 5 112167587 112167587 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs548710 0.433906 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;T>C 1208;83|58 Het;T>C 1399;53|61 Hom;T>C 3453;2|132 N N - 5 112167821 112167821 C T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs569940 0.620008 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;C>T 605;36|23 Het;C>T 418;30|21 Hom;C>T 1054;2|41 N N - 5 112167941 112167941 C G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2909958 0.620607 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;C>G 1291;44|52 Het;C>G 826;48|40 Hom;C>G 2251;2|86 N N - 5 112168065 112168065 A G snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2909786 0.620208 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;A>G 670;46|28 Het;A>G 707;28|32 Hom;A>G 1887;0|70 N N - 5 112168130 112168130 G C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2909787 0.620008 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;G>C 580;40|25 Het;G>C 548;29|25 Hom;G>C 1944;0|71 N N - 5 112169525 112169525 T A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs2546111 0.73722 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;T>A 1131;39|45 Het;T>A 1057;36|41 Hom;T>A 2439;2|90 N N - 5 112170358 112170358 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs458967 0 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;G>A 1675;98|84 Het;G>A 1959;66|92 Hom;G>A 3996;2|157 N N - 5 112171706 112171716 CTTTTTTTTTT C indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs371484714 0.77496 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;-TTTTTTTTTT 304;2|10 Het;-TTTTTTTTTT 250;3|7 Hom;-TTTTTTTTTT 519;0|17 N N - 5 112172219 112172219 G A snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs411356 0.677516 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;G>A 1225;109|64 Het;G>A 1415;92|74 Hom;G>A 4144;2|157 N N - 5 112172786 112172786 G T snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs1966477 0.675519 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;G>T 372;20|16 Het;G>T 333;16|17 Hom;G>T 1234;0|45 N N - 5 112172930 112172930 T C snp intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs1966476 0.500599 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;T>C 563;34|26 Het;T>C 861;48|39 Hom;T>C 2468;0|91 N N - 5 112173106 112173106 T TAGAA indel intronic APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs3839284 0.677516 0 0 1 0 0 intronic intronic intronic APC APC ENSG00000134982,ENSG00000258864 Na Na Na Na Na Na Het;+AGAA 1676;45|43 Het;+AGAA 1835;58|47 Hom;+AGAA 4822;0|107 N N - 5 112175770 112175770 G A snp synonymous SNV G4479A T1493T polar,hydrophilic,neutral polar,hydrophilic,neutral APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs41115 0.665535 0.5862 0.6486 1 0 0 exonic exonic exonic APC APC ENSG00000134982 synonymous SNV synonymous SNV unknown APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T,APC:NM_001127511:exon14:c.G4425A:p.T1475T, APC:uc010jca.3:exon3:c.G2379A:p.T793T,APC:uc003kpz.4:exon17:c.G4479A:p.T1493T,APC:uc010jbz.3:exon17:c.G3630A:p.T1210T,APC:uc011cvt.2:exon14:c.G4425A:p.T1475T,APC:uc003kpy.4:exon16:c.G4479A:p.T1493T, UNKNOWN Het;G>A 540;42|23 Het;G>A 914;39|43 Hom;G>A 2498;0|91 N N - 5 112176325 112176325 G A snp synonymous SNV G5034A G1678G aliphatic,neutral aliphatic,neutral APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs42427 0.666733 0.5901 0.6514 1 0 0 exonic exonic exonic APC APC ENSG00000134982 synonymous SNV synonymous SNV unknown APC:NM_000038:exon16:c.G5034A:p.G1678G,APC:NM_001127510:exon17:c.G5034A:p.G1678G,APC:NM_001127511:exon14:c.G4980A:p.G1660G, APC:uc010jca.3:exon3:c.G2934A:p.G978G,APC:uc003kpz.4:exon17:c.G5034A:p.G1678G,APC:uc010jbz.3:exon17:c.G4185A:p.G1395G,APC:uc011cvt.2:exon14:c.G4980A:p.G1660G,APC:uc003kpy.4:exon16:c.G5034A:p.G1678G, UNKNOWN Het;G>A 745;29|28 Het;G>A 947;47|41 Hom;G>A 2446;0|84 N N - 5 112176559 112176559 T G snp synonymous SNV T5268G S1756S polar,hydrophilic,neutral polar,hydrophilic,neutral APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs866006 0.666933 0.5880 0.6508 1 0 0 exonic exonic exonic APC APC ENSG00000134982 synonymous SNV synonymous SNV unknown APC:NM_000038:exon16:c.T5268G:p.S1756S,APC:NM_001127510:exon17:c.T5268G:p.S1756S,APC:NM_001127511:exon14:c.T5214G:p.S1738S, APC:uc010jca.3:exon3:c.T3168G:p.S1056S,APC:uc003kpz.4:exon17:c.T5268G:p.S1756S,APC:uc010jbz.3:exon17:c.T4419G:p.S1473S,APC:uc011cvt.2:exon14:c.T5214G:p.S1738S,APC:uc003kpy.4:exon16:c.T5268G:p.S1756S, UNKNOWN Het;T>G 790;19|36 Het;T>G 349;45|18 Hom;T>G 2011;0|76 N N - 5 112176756 112176756 T A snp nonsynonymous SNV T3365A V1122D aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs459552 0.865415 0.8263 0.7981 0.23 3 13 exonic exonic exonic APC APC ENSG00000134982 nonsynonymous SNV nonsynonymous SNV unknown APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D,APC:NM_001127511:exon14:c.T5411A:p.V1804D, APC:uc010jca.3:exon3:c.T3365A:p.V1122D,APC:uc003kpz.4:exon17:c.T5465A:p.V1822D,APC:uc010jbz.3:exon17:c.T4616A:p.V1539D,APC:uc011cvt.2:exon14:c.T5411A:p.V1804D,APC:uc003kpy.4:exon16:c.T5465A:p.V1822D, UNKNOWN Het;T>A 584;32|24 Het;T>A 1182;48|55 Hom;T>A 2315;0|78 N N - 5 112177171 112177171 G A snp synonymous SNV G5880A P1960P hydrophobic,neutral hydrophobic,neutral APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs465899 0.666534 0.5869 0.6488 1 0 0 exonic exonic exonic APC APC ENSG00000134982 synonymous SNV synonymous SNV unknown APC:NM_000038:exon16:c.G5880A:p.P1960P,APC:NM_001127510:exon17:c.G5880A:p.P1960P,APC:NM_001127511:exon14:c.G5826A:p.P1942P, APC:uc010jca.3:exon3:c.G3780A:p.P1260P,APC:uc003kpz.4:exon17:c.G5880A:p.P1960P,APC:uc010jbz.3:exon17:c.G5031A:p.P1677P,APC:uc011cvt.2:exon14:c.G5826A:p.P1942P,APC:uc003kpy.4:exon16:c.G5880A:p.P1960P, UNKNOWN Het;G>A 900;40|34 Het;G>A 1579;64|64 Hom;G>A 3506;0|122 N N - 5 112180228 112180228 C CA indel UTR3 *405C>CA APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11432316 0.596845 0 0 1 0 0 UTR3 UTR3 UTR3 APC(NM_001127511:c.*405C>CA,NM_001127510:c.*405C>CA,NM_000038:c.*405C>CA) APC(uc011cvt.2:c.*405C>CA,uc003kpz.4:c.*405C>CA,uc003kpy.4:c.*405C>CA,uc010jbz.3:c.*405C>CA,uc010jca.3:c.*405C>CA) ENSG00000134982(ENST00000457016:c.*405C>CA,ENST00000257430:c.*405C>CA,ENST00000508376:c.*405C>CA) Na Na Na Na Na Na Het;+A 77;12|6 Het;+A 108;14|6 Hom;+A 481;0|19 N N - 5 112180921 112180921 T C snp UTR3 *1098T>C APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs41116 0.436901 0 0 1 0 0 UTR3 UTR3 UTR3 APC(NM_001127511:c.*1098T>C,NM_001127510:c.*1098T>C,NM_000038:c.*1098T>C) APC(uc011cvt.2:c.*1098T>C,uc003kpz.4:c.*1098T>C,uc003kpy.4:c.*1098T>C,uc010jbz.3:c.*1098T>C,uc010jca.3:c.*1098T>C) ENSG00000134982(ENST00000457016:c.*1098T>C,ENST00000257430:c.*1098T>C,ENST00000508376:c.*1098T>C) Na Na Na Na Na Na Het;T>C 475;23|22 Het;T>C 558;42|27 Hom;T>C 2244;0|80 N N - 5 112181379 112181379 C G snp UTR3 *1556C>G APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs448475 0.441893 0 0 1 0 0 UTR3 UTR3 UTR3 APC(NM_001127511:c.*1556C>G,NM_001127510:c.*1556C>G,NM_000038:c.*1556C>G) APC(uc011cvt.2:c.*1556C>G,uc003kpz.4:c.*1556C>G,uc003kpy.4:c.*1556C>G,uc010jbz.3:c.*1556C>G,uc010jca.3:c.*1556C>G) ENSG00000134982(ENST00000457016:c.*1556C>G,ENST00000257430:c.*1556C>G,ENST00000508376:c.*1556C>G) Na Na Na Na Na Na Het;C>G 238;14|12 Het;C>G 448;24|21 Hom;C>G 1246;0|47 N N - 5 112181576 112181576 G A snp UTR3 *1753G>A APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs397768 0.697284 0 0 1 0 0 UTR3 UTR3 UTR3 APC(NM_001127511:c.*1753G>A,NM_001127510:c.*1753G>A,NM_000038:c.*1753G>A) APC(uc011cvt.2:c.*1753G>A,uc003kpz.4:c.*1753G>A,uc003kpy.4:c.*1753G>A,uc010jbz.3:c.*1753G>A,uc010jca.3:c.*1753G>A) ENSG00000134982(ENST00000457016:c.*1753G>A,ENST00000257430:c.*1753G>A,ENST00000508376:c.*1753G>A) Na Na Na Na Na Na Het;G>A 55;8|3 Het;G>A 339;9|14 Hom;G>A 453;0|16 N N - 5 112182116 112182116 A AGAGTT indel downstream APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs10692336 0.697484 0 0 1 0 0 downstream downstream intronic APC APC ENSG00000258864 Na Na Na Na Na Na Het;+GAGTT 748;32|21 Het;+GAGTT 1037;45|29 Hom;+GAGTT 3510;0|77 N N - 5 112182232 112182232 A T snp downstream APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs433429 0.697684 0 0 1 0 0 downstream downstream intronic APC APC ENSG00000258864 Na Na Na Na Na Na Het;A>T 677;40|31 Het;A>T 1083;43|48 Hom;A>T 2402;0|90 N N - 5 112182364 112182365 GT G indel downstream APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs11285673 0.697484 0 0 1 0 0 downstream downstream intronic APC APC ENSG00000258864 Na Na Na Na Na Na Het;-T 516;21|18 Het;-T 929;18|30 Hom;-T 2228;0|60 N N - 5 112182379 112182379 G A snp downstream APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs386830 0.697684 0 0 1 0 0 downstream downstream intronic APC APC ENSG00000258864 Na Na Na Na Na Na Het;G>A 453;20|18 Het;G>A 778;21|34 Hom;G>A 1837;0|64 N N - 5 112182691 112182691 A G snp downstream APC Apc ENSG00000134982 APC, WNT signaling pathway regulator chr5:112043195-112181936 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] familial adenomatous polyposis.; epithelial ovarian cancer ; severe desmoid phenotype; venous thrombosis; lung cancer ; familial adenomatous polyposis; adenomatous polyposis coli; Adenomatous Polyposis Coli; APC mutations beyond codon 1444; Chronic renal failure|Kidney Failure, Chronic; breast cancer ; inflammatory bowel disease; Nasopharyngeal angiofibroma; colon polyps; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Hyperplasia|Metaplasia|Precancerous Conditions; autism; bladder cancer; Stroke; colorectal cancer; Adenoma|Colonic Neoplasms|Colonic Polyps|Hyperplasia; desmoid tumors; Bone Mineral Density; pancreatoblastomas; prostate cancer; adenomatous polyposis; Adenomatous Polyposis Coli|Cell Transformation, Neoplastic; colorectal adenomas; Adenomatous Polyposis Coli|Rectal Neoplasms; decreased apoptotic level; colorectal adenocarcinomas; chronic obstructive pulmonary disease; Adenomatous Polyposis Coli|Bone Neoplasms|Epidermal Cyst|Gardner Syndrome|Gardner's Syndrome|Osteoma; longevity; Colorectal Neoplasms; colorectal tumors; Adenomatous Polyposis Coli|Colonic Neoplasms|Rectal Neoplasms; Chromosomal Instability|Colonic Neoplasms; colon adenomas/carcinomas; Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms; Adenomatous Polyposis Coli|Syndrome; Adenomatous Polyposis Coli|Duodenal Neoplasms|Jejunal Neoplasms; Type 2 Diabetes| edema | rosiglitazone; stomach cancer; diet lifestyle and risk of colon cancer; hepatocellular carcinoma; Helicobacter Infections|Metaplasia; Adenoma|Colorectal Neoplasms|; Colonic Neoplasms|Microsatellite Instability; Carcinoma|Urinary Bladder Neoplasms; null; inflammatory bowel disease ; oral squamous cell carcinomas; Breast Neoplasms|Colonic Polyps|Colorectal Neoplasms|Mammary Neoplasms; esophageal adenocarcinoma; Adenomatous Polyposis Coli|Colorectal Neoplasms|Intestinal Polyps; Adenoma|Colorectal Neoplasms; colorectal polyps; Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; late onset of familial adenomatous polyposis; beta-catenin; Cholesterol; Adenomatous Polyposis Coli|Colorectal Neoplasms|Microsatellite Instability; Pancreatic Neoplasms; late onset familial adenomatous polyposis; Breast Neoplasms|Carcinoma|Mammary Neoplasms|ovarian neoplasm|Ovarian Neoplasms; pancreatic cancer; sporadic ovarian carcinoma; brain cancer; intrauterine growth restriction; Adenomatous Polyposis Coli|Fibromatosis, Abdominal; lung cancer; Adenomatous Polyposis Coli|Colorectal Neoplasms Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. Ovarian tumor domain proteases GO:0000281;mitotic cytokinesis;IEA|GO:0006461;protein complex assembly;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007026;negative regulation of microtubule depolymerization;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0007155;cell adhesion;NAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008286;insulin receptor signaling pathway;IMP|GO:0010942;positive regulation of cell death;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0016477;cell migration;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031274;positive regulation of pseudopodium assembly;IMP|GO:0032886;regulation of microtubule-based process;IMP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0045732;positive regulation of protein catabolic process;IC|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0051260;protein homooligomerization;IMP|GO:0051988;regulation of attachment of spindle microtubules to kinetochore;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0070830;bicellular tight junction assembly;NAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;NAS|GO:0097194;execution phase of apoptosis;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1904885;beta-catenin destruction complex assembly;TAS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0000776;kinetochore;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;IDA|GO:0016342;catenin complex;IDA|GO:0030027;lamellipodium;IDA|GO:0030054;cell junction;IEA|GO:0030877;beta-catenin destruction complex;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:1990909;Wnt signalosome;NAS GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0019887;protein kinase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042802;identical protein binding;IMP|GO:0045295;gamma-catenin binding;IPI|GO:0051010;microtubule plus-end binding;IDA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APC https://www.uniprot.org/uniprot/P25054 https://hpo.jax.org/app/browse/search?q=APC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611731 http://www.informatics.jax.org/searchtool/Search.do?query=APC&submit=Quick%0D%7064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APC rs448162 0.517572 0 0 1 0 0 downstream downstream intronic APC APC ENSG00000258864 Na Na Na Na Na Na Het;A>G 140;9|7 Het;A>G 168;21|11 Hom;A>G 902;0|34 N N - 5 112183157 112183157 A G snp intronic AC008575.1 rs2546112 0.446685 0 0 1 0 0 intergenic intergenic intronic APC(dist=1221),SRP19(dist=13728) APC(dist=1221),SRP19(dist=13728) ENSG00000258864 Na Na Na Na Na Na Het;A>G 188;17|11 Het;A>G 243;17|12 Hom;A>G 1000;0|40 N N - 5 112184490 112184490 T C snp intronic AC008575.1 rs2545155 0.462859 0 0 1 0 0 intergenic intergenic intronic APC(dist=2554),SRP19(dist=12395) APC(dist=2554),SRP19(dist=12395) ENSG00000258864 Na Na Na Na Na Na Het;T>C 265;11|11 Ref Hom;T>C 408;0|12 N N - 5 112185092 112185095 GAGA G indel intronic AC008575.1 rs10546913 0.703474 0 0 1 0 0 intergenic intergenic intronic APC(dist=3156),SRP19(dist=11790) APC(dist=3156),SRP19(dist=11790) ENSG00000258864 Na Na Na Na Na Na Het;-AGA 350;11|10 Het;-AGA 125;2|4 Hom;-AGA 323;0|8 N N - 5 112185393 112185393 A C snp intronic AC008575.1 rs565453 0.705671 0 0 1 0 0 intergenic intergenic intronic APC(dist=3457),SRP19(dist=11492) APC(dist=3457),SRP19(dist=11492) ENSG00000258864 Na Na Na Na Na Na Het;A>C 103;9|4 Het;A>C 61;9|3 Hom;A>C 335;0|12 N N - 5 112185451 112185451 A G snp intronic AC008575.1 rs565603 0.70627 0 0 1 0 0 intergenic intergenic intronic APC(dist=3515),SRP19(dist=11434) APC(dist=3515),SRP19(dist=11434) ENSG00000258864 Na Na Na Na Na Na Het;A>G 283;18|12 Het;A>G 134;27|9 Hom;A>G 914;0|36 N N - 5 112185491 112185491 A G snp intronic AC008575.1 rs497844 0.705871 0 0 1 0 0 intergenic intergenic intronic APC(dist=3555),SRP19(dist=11394) APC(dist=3555),SRP19(dist=11394) ENSG00000258864 Na Na Na Na Na Na Het;A>G 445;27|23 Het;A>G 144;37|12 Hom;A>G 1133;0|42 N N - 5 112185513 112185513 A C snp intronic AC008575.1 rs566419 0.446286 0 0 1 0 0 intergenic intergenic intronic APC(dist=3577),SRP19(dist=11372) APC(dist=3577),SRP19(dist=11372) ENSG00000258864 Na Na Na Na Na Na Het;A>C 716;26|34 Het;A>C 124;46|11 Hom;A>C 1361;0|50 N N - 5 112186064 112186064 C A snp intronic AC008575.1 rs481789 0.729233 0 0 1 0 0 intergenic intergenic intronic APC(dist=4128),SRP19(dist=10821) APC(dist=4128),SRP19(dist=10821) ENSG00000258864 Na Na Na Na Na Na Het;C>A 202;36|13 Het;C>A 205;25|12 Hom;C>A 468;0|18 N N - 5 112196949 112196949 A C snp UTR5 -125A>C SRP19 Srp19 ENSG00000153037 signal recognition particle 19 chr5:112196919-112205485 Stroke SRP-dependent cotranslational protein targeting to membrane GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006616;SRP-dependent cotranslational protein targeting to membrane, translocation;IBA|GO:0006617;SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;IBA|GO:0042493;response to drug;IDA GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;TAS|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0048500;signal recognition particle;IDA GO:0003723;RNA binding;IDA|GO:0008312;7S RNA binding;IDA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRP19 https://www.uniprot.org/uniprot/P09132 https://www.ncbi.nlm.nih.gov/omim/?term=182175 http://www.informatics.jax.org/searchtool/Search.do?query=SRP19&submit=Quick%0D%9619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP19 rs460137 0.471246 0 0 1 0 0 UTR5 UTR5 UTR5 SRP19(NM_003135:c.-125A>C,NM_001204193:c.-125A>C,NM_001204196:c.-125A>C,NM_001204199:c.-125A>C,NM_001204194:c.-125A>C) SRP19(uc003kqc.3:c.-125A>C,uc021yck.1:c.-125A>C,uc003kqb.2:c.-125A>C,uc021ycl.1:c.-125A>C,uc011cvu.2:c.-125A>C) ENSG00000153037(ENST00000505459:c.-125A>C) Na Na Na Na Na Na Het;A>C 627;16|20 Het;A>C 405;9|12 Hom;A>C 304;0|8 N N - 5 112198071 112198074 AAGG A indel intronic SRP19 Srp19 ENSG00000153037 signal recognition particle 19 chr5:112196919-112205485 Stroke SRP-dependent cotranslational protein targeting to membrane GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006616;SRP-dependent cotranslational protein targeting to membrane, translocation;IBA|GO:0006617;SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;IBA|GO:0042493;response to drug;IDA GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;TAS|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0048500;signal recognition particle;IDA GO:0003723;RNA binding;IDA|GO:0008312;7S RNA binding;IDA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRP19 https://www.uniprot.org/uniprot/P09132 https://www.ncbi.nlm.nih.gov/omim/?term=182175 http://www.informatics.jax.org/searchtool/Search.do?query=SRP19&submit=Quick%0D%9619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP19 rs112093457 0.604433 0 0 1 0 0 intronic intronic intronic SRP19 SRP19 ENSG00000153037,ENSG00000258864,ENSG00000272869 Na Na Na Na Na Na Het;-AGG 245;3|7 Het;-AGG 122;3|4 Hom;-AGG 143;0|4 N N - 5 112200098 112200098 A G snp intronic SRP19 Srp19 ENSG00000153037 signal recognition particle 19 chr5:112196919-112205485 Stroke SRP-dependent cotranslational protein targeting to membrane GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0006616;SRP-dependent cotranslational protein targeting to membrane, translocation;IBA|GO:0006617;SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;IBA|GO:0042493;response to drug;IDA GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;TAS|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0048500;signal recognition particle;IDA GO:0003723;RNA binding;IDA|GO:0008312;7S RNA binding;IDA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRP19 https://www.uniprot.org/uniprot/P09132 https://www.ncbi.nlm.nih.gov/omim/?term=182175 http://www.informatics.jax.org/searchtool/Search.do?query=SRP19&submit=Quick%0D%9619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP19 rs351767 0.573882 0.5681 0.6524 1 0 0 intronic intronic intronic SRP19 SRP19 ENSG00000153037,ENSG00000258864,ENSG00000272869 Na Na Na Na Na Na Het;A>G 328;16|10 Het;A>G 137;13|7 Hom;A>G 234;0|7 N N - 5 112487137 112487137 A C snp intronic MCC Mcc ENSG00000171444 mutated in colorectal cancers chr5:112357796-112824527 This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Anemia, Sickle Cell; Cholesterol; hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Body Height; Respiratory Function Tests Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. GO:0007165;signal transduction;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0045184;establishment of protein localization;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCC https://www.ncbi.nlm.nih.gov/omim/?term=159350 http://www.informatics.jax.org/searchtool/Search.do?query=MCC&submit=Quick%0D%12924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCC rs1947026 0.661941 0.6576 0.6921 1 0 0 intronic intronic intronic MCC MCC ENSG00000171444 Na Na Na Na Na Na Het;A>C 887;52|44 Het;A>C 1293;67|60 Hom;A>C 2628;0|96 N N - 5 112823998 112823998 C T snp synonymous SNV G114A E38E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MCC Mcc ENSG00000171444 mutated in colorectal cancers chr5:112357796-112824527 This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Anemia, Sickle Cell; Cholesterol; hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Body Height; Respiratory Function Tests Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. GO:0007165;signal transduction;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0045184;establishment of protein localization;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCC https://www.ncbi.nlm.nih.gov/omim/?term=159350 http://www.informatics.jax.org/searchtool/Search.do?query=MCC&submit=Quick%0D%12924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCC rs348943 0.502995 0.4266 0.4945 1 0 0 exonic exonic exonic MCC MCC ENSG00000171444 synonymous SNV synonymous SNV unknown MCC:NM_001085377:exon1:c.G114A:p.E38E, MCC:uc003kql.4:exon1:c.G114A:p.E38E, UNKNOWN Het;C>T 675;45|37 Het;C>T 494;42|26 Hom;C>T 2580;2|102 N N - 5 112824048 112824048 T TGCC indel nonframeshift substitution 64_64delinsGGCA MCC Mcc ENSG00000171444 mutated in colorectal cancers chr5:112357796-112824527 This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Anemia, Sickle Cell; Cholesterol; hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Body Height; Respiratory Function Tests Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. GO:0007165;signal transduction;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0045184;establishment of protein localization;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCC https://www.ncbi.nlm.nih.gov/omim/?term=159350 http://www.informatics.jax.org/searchtool/Search.do?query=MCC&submit=Quick%0D%12924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCC rs35336557 0.332069 0.0663 0.1800 1 0 0 exonic exonic exonic MCC MCC ENSG00000171444 nonframeshift substitution nonframeshift substitution unknown MCC:NM_001085377:exon1:c.64_64delinsGGCA, MCC:uc003kql.4:exon1:c.64_64delinsGGCA, UNKNOWN Het;+GCC 907;21|24 Het;+GCC 457;17|13 Hom;+GCC 2048;1|48 N N - 5 113279043 113279043 A G snp intergenic YTHDC2 Ythdc2 ENSG00000047188 YTH domain containing 2 chr5:112849380-112930982 This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016] Hip; Lipoproteins; HIV Infections|[X]Human immunodeficiency virus disease; Death, Sudden, Cardiac; Erythrocyte Count; Body Height; Body Weights and Measures; Triglycerides; Hemoglobins; Anemia, Sickle Cell Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. GO:0006396;RNA processing;IBA|GO:0034612;response to tumor necrosis factor;IDA|GO:0044829;positive regulation by host of viral genome replication;IMP|GO:0070555;response to interleukin-1;IDA GO:0005783;endoplasmic reticulum;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0070063;RNA polymerase binding;IPI|GO:1990247;N6-methyladenosine-containing RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/YTHDC2 https://www.uniprot.org/uniprot/Q9H6S0 https://www.ncbi.nlm.nih.gov/omim/?term=616530 http://www.informatics.jax.org/searchtool/Search.do?query=YTHDC2&submit=Quick%0D%862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YTHDC2 rs7732200 0.555511 0 0 1 0 0 intergenic intergenic intergenic YTHDC2(dist=348059),KCNN2(dist=418973) YTHDC2(dist=348059),7SK(dist=310167) ENSG00000047188(dist=348062),ENSG00000251628(dist=112660) Na Na Na Na Na Na Het;A>G 206;6|10 Het;A>G 176;3|9 Hom;A>G 298;0|11 N N - 5 113476459 113476459 C CATT indel intergenic YTHDC2 Ythdc2 ENSG00000047188 YTH domain containing 2 chr5:112849380-112930982 This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016] Hip; Lipoproteins; HIV Infections|[X]Human immunodeficiency virus disease; Death, Sudden, Cardiac; Erythrocyte Count; Body Height; Body Weights and Measures; Triglycerides; Hemoglobins; Anemia, Sickle Cell Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. GO:0006396;RNA processing;IBA|GO:0034612;response to tumor necrosis factor;IDA|GO:0044829;positive regulation by host of viral genome replication;IMP|GO:0070555;response to interleukin-1;IDA GO:0005783;endoplasmic reticulum;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008186;RNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0070063;RNA polymerase binding;IPI|GO:1990247;N6-methyladenosine-containing RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/YTHDC2 https://www.uniprot.org/uniprot/Q9H6S0 https://www.ncbi.nlm.nih.gov/omim/?term=616530 http://www.informatics.jax.org/searchtool/Search.do?query=YTHDC2&submit=Quick%0D%862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YTHDC2 rs375085591 0.357228 0 0 1 0 0 intergenic intergenic intergenic YTHDC2(dist=545475),KCNN2(dist=221557) YTHDC2(dist=545475),7SK(dist=112751) ENSG00000251628(dist=83588),ENSG00000222706(dist=112751) Na Na Na Na Na Na Het;+ATT 258;4|9 Het;+ATT 341;2|10 Hom;+ATT 83;0|3 N N - 5 114259056 114259056 G C snp intergenic LOC101927078 rs10057114 0.590056 0 0 1 0 0 intergenic intergenic intergenic LOC101927078(dist=149946),TRIM36(dist=201403) AK097686(dist=149946),TRIM36(dist=201403) ENSG00000246316(dist=254949),ENSG00000251132(dist=107914) Na Na Na Na Na Na Het;G>C 89;2|4 Het;G>C 137;7|5 Hom;G>C 235;0|8 N N - 5 114259202 114259202 A G snp intergenic LOC101927078 rs10072092 0.552316 0 0 1 0 0 intergenic intergenic intergenic LOC101927078(dist=150092),TRIM36(dist=201257) AK097686(dist=150092),TRIM36(dist=201257) ENSG00000246316(dist=255095),ENSG00000251132(dist=107768) Na Na Na Na Na Na Het;A>G 392;17|20 Het;A>G 341;17|16 Hom;A>G 1356;0|51 N N - 5 114359304 114359304 G A snp intergenic LOC101927078 rs4626327 0.601438 0 0 1 0 0 intergenic intergenic intergenic LOC101927078(dist=250194),TRIM36(dist=101155) AK097686(dist=250194),TRIM36(dist=101155) ENSG00000246316(dist=355197),ENSG00000251132(dist=7666) Na Na Na Na Na Na Het;G>A 64;4|3 Ref Hom;G>A 204;0|6 N N - 5 115351224 115351224 G A snp intronic LVRN Lvrn rs17138667 0.288938 0 0 1 0 0 intronic intronic intronic LVRN AQPEP ENSG00000172901 Na Na Na Na Na Na Het;G>A 413;8|14 Het;G>A 510;18|19 Hom;G>A 635;0|19 N N - 5 117510732 117510732 C T snp ncRNA_intronic LOC102467224 rs6870414 0.230631 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC102467224 LOC728342(dist=595293),BC044609(dist=107537) ENSG00000249797 Na Na Na Na Na Na Het;C>T 524;36|29 Het;C>T 1039;50|54 Hom;C>T 2576;0|97 N N - 5 1187901 1187901 A G snp intergenic CTD-3080P12.3 rs4074805 0.763179 0 0 1 0 0 intergenic intergenic intergenic CTD-3080P12.3(dist=9181),SLC6A19(dist=13809) BC032469(dist=9181),SLC6A19(dist=13809) ENSG00000249201(dist=9181),ENSG00000174358(dist=13809) Na Na Na Na Na Na Het;A>G 40;5|3 Het;A>G 76;5|5 Hom;A>G 254;0|10 N N - 5 120122228 120122229 AT A indel ncRNA_intronic AC114284.1 rs140747621 0.192692 0 0 1 0 0 intergenic intergenic ncRNA_intronic PRR16(dist=99203),LOC102467226(dist=536016) PRR16(dist=99264),FTMT(dist=1065421) ENSG00000248927 Na Na Na Na Na Na Het;-T 80;2|3 Ref Hom;-T 143;0|4 N N - 5 120122231 120122231 T A snp ncRNA_intronic AC114284.1 rs62379856 0.192692 0 0 1 0 0 intergenic intergenic ncRNA_intronic PRR16(dist=99206),LOC102467226(dist=536014) PRR16(dist=99267),FTMT(dist=1065419) ENSG00000248927 Na Na Na Na Na Na Het;T>A 89;3|3 Ref Hom;T>A 152;0|4 N N - 5 12053834 12053834 G A snp intergenic CTNND2 Ctnnd2 ENSG00000169862 catenin delta 2 chr5:10971952-11904155 This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] Myopia, Degenerative; Body Mass Index; Erythrocytes; Myopia; Celiac Disease|; Lipoproteins; C-Reactive Protein; Respiratory Function Tests; Alanine Transaminase; Hematocrit; Hemoglobins; Hip; Asthma; Insulin; Myocardial Infarction; Leukocyte Count; Tobacco Use Disorder; Fibrinogen; schizophrenia Mice homozygous for a reporter allele exhibit abnormal conditioning, spatial learning and coordination behaviors and abnormal long term potentiation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0050808;synapse organization;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;IMP|GO:0060997;dendritic spine morphogenesis;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0005912;adherens junction;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043204;perikaryon;IDA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CTNND2 https://hpo.jax.org/app/browse/search?q=CTNND2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604275 http://www.informatics.jax.org/searchtool/Search.do?query=CTNND2&submit=Quick%0D%12579ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNND2 rs6877137 0.0888578 0 0 1 0 0 intergenic intergenic intergenic CTNND2(dist=149679),LINC01194(dist=521135) CTNND2(dist=149724),CT49(dist=521135) ENSG00000169862(dist=149679),ENSG00000212305(dist=243677) Na Na Na Na Na Na Het;G>A 1125;48|54 Het;G>A 1280;73|61 Hom;G>A 4634;1|171 N N - 5 121761021 121761021 G A snp intronic SNCAIP Sncaip ENSG00000064692 synuclein alpha interacting protein chr5:121647049-121799914 This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Echocardiography; Parkinson's disease; smoking cessation; Hip; Tobacco Use Disorder; Parkinson's disease ; Erythrocytes Amyloid fiber formation GO:0008219;cell death;IDA|GO:0042417;dopamine metabolic process;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0046928;regulation of neurotransmitter secretion;IDA|GO:0090083;regulation of inclusion body assembly;IDA GO:0000932;P-body;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;TAS|GO:0042734;presynaptic membrane;NAS|GO:0043025;neuronal cell body;NAS GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNCAIP https://www.uniprot.org/uniprot/Q9Y6H5 https://hpo.jax.org/app/browse/search?q=SNCAIP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603779 http://www.informatics.jax.org/searchtool/Search.do?query=SNCAIP&submit=Quick%0D%1142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNCAIP rs2242224 0.226038 0.1950 0.2564 1 0 0 intronic intronic intronic SNCAIP SNCAIP ENSG00000064692 Na Na Na Na Na Na Het;G>A 406;21|18 Het;G>A 350;15|15 Hom;G>A 888;0|29 N N - 5 121767643 121767643 C T snp intronic SNCAIP Sncaip ENSG00000064692 synuclein alpha interacting protein chr5:121647049-121799914 This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Echocardiography; Parkinson's disease; smoking cessation; Hip; Tobacco Use Disorder; Parkinson's disease ; Erythrocytes Amyloid fiber formation GO:0008219;cell death;IDA|GO:0042417;dopamine metabolic process;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0046928;regulation of neurotransmitter secretion;IDA|GO:0090083;regulation of inclusion body assembly;IDA GO:0000932;P-body;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;TAS|GO:0042734;presynaptic membrane;NAS|GO:0043025;neuronal cell body;NAS GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNCAIP https://www.uniprot.org/uniprot/Q9Y6H5 https://hpo.jax.org/app/browse/search?q=SNCAIP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603779 http://www.informatics.jax.org/searchtool/Search.do?query=SNCAIP&submit=Quick%0D%1142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNCAIP rs77615391 0.21885 0.1825 0.2680 1 0 0 intronic intronic intronic SNCAIP SNCAIP ENSG00000064692 Na Na Na Na Na Na Het;C>T 533;31|26 Het;C>T 863;51|35 Hom;C>T 3034;0|111 N N - 5 121772722 121772722 T C snp ncRNA_exonic MGC32805 rs3828578 0.307508 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MGC32805 MGC32805 ENSG00000250328 Na Na Na Na Na Na Het;T>C 3620;135|155 Het;T>C 4173;161|178 Hom;T>C 8566;0|290 N N - 5 121772923 121772923 G A snp ncRNA_exonic MGC32805 rs3811888 0.311102 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MGC32805 MGC32805 ENSG00000250328 Na Na Na Na Na Na Het;G>A 2319;84|98 Het;G>A 1967;81|84 Hom;G>A 5376;0|188 N N - 5 121773123 121773123 A G snp ncRNA_intronic MGC32805 rs3811887 0.315495 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MGC32805 MGC32805 ENSG00000250328 Na Na Na Na Na Na Het;A>G 287;15|10 Het;A>G 437;8|16 Hom;A>G 932;1|28 N N - 5 121776301 121776301 T C snp ncRNA_intronic MGC32805 rs2290987 0.245407 0.2211 0.2584 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MGC32805 MGC32805 ENSG00000250328 Na Na Na Na Na Na Het;T>C 2091;66|77 Het;T>C 1251;55|47 Hom;T>C 4094;0|136 N N - 5 121779390 121779390 G C snp ncRNA_intronic MGC32805 rs3811879 0.198083 0 0.2689 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MGC32805 MGC32805 ENSG00000250328 Na Na Na Na Na Na Het;G>C 1357;65|59 Het;G>C 823;43|40 Hom;G>C 3229;0|113 N N - 5 121790168 121790168 G A snp ncRNA_exonic MGC32805 rs74529418 0.204273 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MGC32805 MGC32805 ENSG00000250328 Na Na Na Na Na Na Het;G>A 1413;78|63 Het;G>A 1193;76|56 Hom;G>A 3105;0|115 N N - 5 122372402 122372402 G C snp UTR5 -82C>G PPIC Ppic ENSG00000168938 peptidylprolyl isomerase C chr5:122358945-122372436 The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] Aortic root size GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;IDA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPIC https://www.ncbi.nlm.nih.gov/omim/?term=123842 http://www.informatics.jax.org/searchtool/Search.do?query=PPIC&submit=Quick%0D%12382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIC rs28373879 0.841054 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic PPIC(NM_000943:c.-82C>G) PPIC(uc003kth.3:c.-82C>G,uc011cwp.1:c.-82C>G) ENSG00000249996 Na Na Na Na Na Na Het;G>C 436;6|16 Het;G>C 354;10|15 Hom;G>C 359;0|12 N N - 5 122729230 122729230 T A snp intronic CEP120 Cep120 ENSG00000168944 centrosomal protein 120 chr5:122680579-122759286 This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Magnesium; Aortic root size; Body Weight; Cardiovascular Diseases|Ventricular Dysfunction, Left Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles. GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007098;centrosome cycle;IEA|GO:0008283;cell proliferation;IEA|GO:0010825;positive regulation of centrosome duplication;IEA|GO:0021987;cerebral cortex development;IEA|GO:0022008;neurogenesis;IEA|GO:0022027;interkinetic nuclear migration;IEA|GO:0030953;astral microtubule organization;IEA|GO:0032880;regulation of protein localization;IEA|GO:0032886;regulation of microtubule-based process;IEA|GO:0045724;positive regulation of cilium assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP120 https://hpo.jax.org/app/browse/search?q=CEP120&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613446 http://www.informatics.jax.org/searchtool/Search.do?query=CEP120&submit=Quick%0D%12384ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP120 rs17408694 0.229233 0.2919 0.2567 1 0 0 intronic intronic intronic CEP120 CEP120 ENSG00000168944 Na Na Na Na Na Na Het;T>A 469;16|18 Het;T>A 472;11|20 Hom;T>A 972;0|34 N N - 5 124042644 124042644 A G snp intronic ZNF608 Zfp608 ENSG00000168916 zinc finger protein 608 chr5:123972608-124084500 Breath Tests; Heart Failure GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF608 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF608&submit=Quick%0D%12374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF608 rs4836111 0.0886581 0 0 1 0 0 intronic intronic intronic ZNF608 ZNF608 ENSG00000168916 Na Na Na Na Na Na Het;A>G 51;1|3 Ref Hom;A>G 80;0|5 N N - 5 125759524 125759524 A ACT indel intronic GRAMD3 Gramd3 ENSG00000155324 GRAM domain containing 2B chr5:125695824-125832186 Tobacco Use Disorder GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRAMD3 https://www.uniprot.org/uniprot/Q96HH9 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD3&submit=Quick%0D%9860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD3 rs34490811 0 0 0 1 0 0 intronic intronic intronic GRAMD3 GRAMD3 ENSG00000155324 Na Na Na Na Na Na Het;+CT 118;6|5 Het;+CT 169;1|6 Hom;+CT 117;0|4 N N - 5 126087599 126087599 G GC indel downstream AC137794.1 rs5871228 0.717452 0 0 1 0 0 intergenic intergenic downstream TEX43(dist=115625),LMNB1(dist=24716) C5orf48(dist=115625),U6(dist=3409) ENSG00000251072 Na Na Na Na Na Na Het;+C 113;9|5 Het;+C 103;9|5 Hom;+C 278;0|8 N N - 5 126087712 126087712 G T snp ncRNA_exonic AC137794.1 rs1533106 0.698882 0 0 1 0 0 intergenic intergenic ncRNA_exonic TEX43(dist=115738),LMNB1(dist=24603) C5orf48(dist=115738),U6(dist=3296) ENSG00000251072 Na Na Na Na Na Na Het;G>T 1511;70|63 Het;G>T 1486;56|60 Hom;G>T 3314;0|119 N N - 5 126091428 126091428 G C snp upstream U6 rs2271352 0.205272 0 0 1 0 0 intergenic upstream ncRNA_intronic TEX43(dist=119454),LMNB1(dist=20887) U6 ENSG00000251072 Na Na Na Na Na Na Het;G>C 618;27|25 Het;G>C 598;21|27 Hom;G>C 1631;0|56 N N - 5 126112580 126112580 T C snp UTR5 -621T>C LMNB1 Lmnb1 ENSG00000113368 lamin B1 chr5:126112315-126172712 This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis Homozygous null mice display neonatal lethality with respiratory distress, abnormal lung, craniofacial, and skeletal morphology, reduced embryo size, impaired cellular proliferation and differentiation, and abnormal nuclear morphology. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;TAS|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;TAS|GO:0005654;nucleoplasm;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IEA|GO:0031965;nuclear membrane;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0043274;phospholipase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMNB1 https://www.uniprot.org/uniprot/P20700 https://hpo.jax.org/app/browse/search?q=LMNB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150340 http://www.informatics.jax.org/searchtool/Search.do?query=LMNB1&submit=Quick%0D%4354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB1 rs35091677 0.232428 0 0 1 0 0 UTR5 UTR5 upstream LMNB1(NM_005573:c.-621T>C) LMNB1(uc003kud.2:c.-621T>C) ENSG00000113368,ENSG00000251072 Na Na Na Na Na Na Het;T>C 321;40|18 Het;T>C 373;30|20 Hom;T>C 1356;0|50 N N - 5 126156538 126156538 T G snp intronic LMNB1 Lmnb1 ENSG00000113368 lamin B1 chr5:126112315-126172712 This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis Homozygous null mice display neonatal lethality with respiratory distress, abnormal lung, craniofacial, and skeletal morphology, reduced embryo size, impaired cellular proliferation and differentiation, and abnormal nuclear morphology. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;TAS|GO:0005637;nuclear inner membrane;IEA|GO:0005638;lamin filament;TAS|GO:0005654;nucleoplasm;TAS|GO:0005882;intermediate filament;IEA|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IEA|GO:0031965;nuclear membrane;IDA GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0043274;phospholipase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMNB1 https://www.uniprot.org/uniprot/P20700 https://hpo.jax.org/app/browse/search?q=LMNB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150340 http://www.informatics.jax.org/searchtool/Search.do?query=LMNB1&submit=Quick%0D%4354ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMNB1 rs6867254 0.230431 0 0 1 0 0 intronic intronic intronic LMNB1 LMNB1 ENSG00000113368 Na Na Na Na Na Na Het;T>G 524;7|16 Het;T>G 178;4|6 Hom;T>G 643;0|17 N N - 5 126476512 126476512 G A snp intergenic C5orf63 C330018D20Rik ENSG00000164241 chromosome 5 open reading frame 63 chr5:126378250-126409184 Lipids; monocyte chemoattractant protein 1 (66-77); Cholesterol, HDL GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA http://www.genecards.org/index.php?path=/Search/keyword/C5orf63 http://www.informatics.jax.org/searchtool/Search.do?query=C5orf63&submit=Quick%0D%11250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C5orf63 rs6595749 0.564497 0 0 1 0 0 intergenic intergenic intergenic C5orf63(dist=67328),MEGF10(dist=149944) C5orf63(dist=67328),MEGF10(dist=149944) ENSG00000164241(dist=67328),ENSG00000214743(dist=2262) Na Na Na Na Na Na Het;G>A 37;5|3 Het;G>A 58;3|3 Hom;G>A 285;0|11 N N - 5 131826765 131826765 T C snp upstream IRF1 Irf1 ENSG00000125347 interferon regulatory factor 1 chr5:131817301-131826490 IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008] lung cancer ; circulating fibrinogen levels; cervical cancer; bladder cancer; juvenile arthritis; celiac disease; Asthma; Platelet Count; Malaria; Graves' disease; respiratory syncytial virus bronchiolitis; diabetes, type 1; Tuberculosis, Pulmonary; asthma; atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Malaria, Falciparum; hepatitis C; Celiac Disease; Eosinophils; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; C-Reactive Protein; normal variation; Hepatitis B, Chronic|Viremia; subacure sclerosing panencephalitis; Multiple Sclerosis; Crohn's disease; Asthma|Bronchial Hyperreactivity; asthma; Hepatitis C, Chronic|Multiple Sclerosis; Behcet Syndrome|Thrombosis; Hypersensitivity; hepatitis B; fibrinogen; cervical intraepithelial neoplasia grade 3; lung cancer; chronic obstructive pulmonary disease; Dengue Hemorrhagic Fever; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; graft-versus-host disease; null; hepatitis C, chronic; arthritis; Tuberculosis Homozygous disruption of this gene leads to reduced CD8+ T cell number and altered response to viral infection and may cause alterations in cytokine levels, CD4+ cell subset homeostasis, blood vessel healing, DNA repair, and susceptibility to induced lymphomas, arthritis and autoimmune encephalitis. Factors involved in megakaryocyte development and platelet production GO:0002376;immune system process;IEA|GO:0002819;regulation of adaptive immune response;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;IDA|GO:0007050;cell cycle arrest;IDA|GO:0007596;blood coagulation;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0010468;regulation of gene expression;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032728;positive regulation of interferon-beta production;IMP|GO:0034124;regulation of MyD88-dependent toll-like receptor signaling pathway;IEA|GO:0035458;cellular response to interferon-beta;IDA|GO:0043374;CD8-positive, alpha-beta T cell differentiation;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IEA|GO:0045087;innate immune response;IEA|GO:0045088;regulation of innate immune response;TAS|GO:0045590;negative regulation of regulatory T cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0050776;regulation of immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0051726;regulation of cell cycle;TAS|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0071260;cellular response to mechanical stimulus;IEP|GO:2000564;regulation of CD8-positive, alpha-beta T cell proliferation;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000975;regulatory region DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IRF1 https://www.uniprot.org/uniprot/P10914 https://hpo.jax.org/app/browse/search?q=IRF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147575 http://www.informatics.jax.org/searchtool/Search.do?query=IRF1&submit=Quick%0D%5758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF1 rs2549009 0.600439 0 0 1 0 0 upstream intronic upstream IRF1 IRF1 ENSG00000125347 Na Na Na Na Na Na Het;T>C 132;2|7 Ref Hom;T>C 46;0|3 N N - 5 132159134 132159134 C T snp synonymous SNV G2034A A678A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SHROOM1 Shroom1 ENSG00000164403 shroom family member 1 chr5:132157833-132166590 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] GO:0000902;cell morphogenesis;ISS|GO:0051017;actin filament bundle assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016460;myosin II complex;IEA GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHROOM1 https://www.ncbi.nlm.nih.gov/omim/?term=611179 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM1&submit=Quick%0D%11299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM1 rs4705870 0.111222 0.1129 0.1431 1 0 0 exonic exonic exonic SHROOM1 SHROOM1 ENSG00000164403 synonymous SNV synonymous SNV unknown SHROOM1:NM_133456:exon6:c.G2034A:p.A678A,SHROOM1:NM_001172700:exon9:c.G2034A:p.A678A, SHROOM1:uc003kxy.2:exon6:c.G2034A:p.A678A,SHROOM1:uc003kxx.3:exon9:c.G2034A:p.A678A, UNKNOWN Het;C>T 1103;48|49 Het;C>T 969;38|45 Hom;C>T 2980;0|109 N N - 5 132159520 132159520 T A snp intronic SHROOM1 Shroom1 ENSG00000164403 shroom family member 1 chr5:132157833-132166590 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] GO:0000902;cell morphogenesis;ISS|GO:0051017;actin filament bundle assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016460;myosin II complex;IEA GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHROOM1 https://www.ncbi.nlm.nih.gov/omim/?term=611179 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM1&submit=Quick%0D%11299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM1 rs66542366 0.251997 0.2312 0.1879 1 0 0 intronic intronic intronic SHROOM1 SHROOM1 ENSG00000164403 Na Na Na Na Na Na Het;T>A 2453;108|105 Het;T>A 2002;106|89 Hom;T>A 5130;0|187 N N - 5 132160057 132160057 C T snp synonymous SNV G1296A Q432Q polar,hydrophilic,neutral polar,hydrophilic,neutral SHROOM1 Shroom1 ENSG00000164403 shroom family member 1 chr5:132157833-132166590 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] GO:0000902;cell morphogenesis;ISS|GO:0051017;actin filament bundle assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016460;myosin II complex;IEA GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHROOM1 https://www.ncbi.nlm.nih.gov/omim/?term=611179 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM1&submit=Quick%0D%11299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM1 rs35534543 0.10623 0.1093 0.1385 1 0 0 exonic exonic exonic SHROOM1 SHROOM1 ENSG00000164403 synonymous SNV synonymous SNV unknown SHROOM1:NM_133456:exon4:c.G1296A:p.Q432Q,SHROOM1:NM_001172700:exon7:c.G1296A:p.Q432Q, SHROOM1:uc003kxy.2:exon4:c.G1296A:p.Q432Q,SHROOM1:uc003kxx.3:exon7:c.G1296A:p.Q432Q, UNKNOWN Het;C>T 1685;70|77 Het;C>T 905;81|46 Hom;C>T 3720;1|129 N N - 5 132161294 132161294 G A snp nonsynonymous SNV C539T P180L hydrophobic,neutral aliphatic,hydrophobic,neutral SHROOM1 Shroom1 ENSG00000164403 shroom family member 1 chr5:132157833-132166590 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] GO:0000902;cell morphogenesis;ISS|GO:0051017;actin filament bundle assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016460;myosin II complex;IEA GO:0003779;actin binding;IEA|GO:0051015;actin filament binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHROOM1 https://www.ncbi.nlm.nih.gov/omim/?term=611179 http://www.informatics.jax.org/searchtool/Search.do?query=SHROOM1&submit=Quick%0D%11299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHROOM1 rs2292030 0.10623 0.0839 0.3077 0.15 2 13 exonic exonic exonic SHROOM1 SHROOM1 ENSG00000164403 nonsynonymous SNV nonsynonymous SNV unknown SHROOM1:NM_133456:exon1:c.C539T:p.P180L,SHROOM1:NM_001172700:exon4:c.C539T:p.P180L, SHROOM1:uc003kxy.2:exon1:c.C539T:p.P180L,SHROOM1:uc003kxx.3:exon4:c.C539T:p.P180L, UNKNOWN Het;G>A 398;27|18 Het;G>A 454;19|19 Hom;G>A 874;0|28 N N - 5 132219304 132219304 A T snp intronic AFF4 Aff4 ENSG00000072364 AF4/FMR2 family member 4 chr5:132211071-132299326 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF4 https://www.uniprot.org/uniprot/Q9UHB7 https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604417 http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4 rs997633 0.105232 0.1139 0.1491 1 0 0 intronic intronic intronic AFF4 AFF4 ENSG00000072364 Na Na Na Na Na Na Het;A>T 430;10|18 Het;A>T 242;19|12 Hom;A>T 1271;0|44 N N - 5 132232315 132232315 G A snp synonymous SNV C2007T P669P hydrophobic,neutral hydrophobic,neutral AFF4 Aff4 ENSG00000072364 AF4/FMR2 family member 4 chr5:132211071-132299326 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF4 https://www.uniprot.org/uniprot/Q9UHB7 https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604417 http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4 rs739863 0.105232 0.1177 0.1451 1 0 0 exonic exonic exonic AFF4 AFF4 ENSG00000072364 synonymous SNV synonymous SNV unknown AFF4:NM_014423:exon11:c.C2007T:p.P669P, AFF4:uc011cxk.2:exon12:c.C1041T:p.P347P,AFF4:uc003kyd.3:exon11:c.C2007T:p.P669P,AFF4:uc003kye.1:exon11:c.C2007T:p.P669P, UNKNOWN Het;G>A 2251;150|111 Het;G>A 1954;119|87 Hom;G>A 4983;0|185 N N - 5 132234702 132234702 A G snp intronic AFF4 Aff4 ENSG00000072364 AF4/FMR2 family member 4 chr5:132211071-132299326 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF4 https://www.uniprot.org/uniprot/Q9UHB7 https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604417 http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4 rs66732439 0.105232 0 0 1 0 0 intronic intronic intronic AFF4 AFF4 ENSG00000072364 Na Na Na Na Na Na Het;A>G 251;4|10 Het;A>G 93;3|6 Hom;A>G 458;0|14 N N - 5 132240151 132240151 T C snp intronic AFF4 Aff4 ENSG00000072364 AF4/FMR2 family member 4 chr5:132211071-132299326 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF4 https://www.uniprot.org/uniprot/Q9UHB7 https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604417 http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4 rs12517073 0.105232 0.1168 0 1 0 0 intronic intronic intronic AFF4 AFF4 ENSG00000072364 Na Na Na Na Na Na Het;T>C 246;21|13 Het;T>C 280;8|12 Hom;T>C 774;0|27 N N - 5 132267850 132267850 A AT indel intronic AFF4 Aff4 ENSG00000072364 AF4/FMR2 family member 4 chr5:132211071-132299326 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF4 https://www.uniprot.org/uniprot/Q9UHB7 https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604417 http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4 rs397826144 0 0.0684 0.1731 1 0 0 intronic intronic intronic AFF4 AFF4 ENSG00000072364 Na Na Na Na Na Na Het;+T 3021;80|80 Het;+T 2055;71|56 Hom;+T 3399;5|134 N N - 5 132267859 132267859 A T snp intronic AFF4 Aff4 ENSG00000072364 AF4/FMR2 family member 4 chr5:132211071-132299326 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0007286;spermatid development;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0008023;transcription elongation factor complex;IDA|GO:0035327;transcriptionally active chromatin;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFF4 https://www.uniprot.org/uniprot/Q9UHB7 https://hpo.jax.org/app/browse/search?q=AFF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604417 http://www.informatics.jax.org/searchtool/Search.do?query=AFF4&submit=Quick%0D%1432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFF4 rs56157864 0.105232 0 0.1643 1 0 0 intronic intronic intronic AFF4 AFF4 ENSG00000072364 Na Na Na Na Na Na Het;A>T 3454;85|98 Het;A>T 2054;82|59 Hom;A>T 6647;2|162 N N - 5 132322665 132322665 T G snp downstream AC010240.1 rs12332670 0.479832 0 0 1 0 0 intergenic intergenic downstream AFF4(dist=23311),ZCCHC10(dist=10012) AFF4(dist=23311),ZCCHC10(dist=10013) ENSG00000229738 Na Na Na Na Na Na Het;T>G 507;17|22 Het;T>G 374;11|14 Hom;T>G 1087;0|35 N N - 5 132322732 132322732 A G snp downstream AC010240.1 rs12332115 0.115016 0 0 1 0 0 intergenic intergenic downstream AFF4(dist=23378),ZCCHC10(dist=9945) AFF4(dist=23378),ZCCHC10(dist=9946) ENSG00000229738 Na Na Na Na Na Na Het;A>G 748;47|36 Het;A>G 694;33|31 Hom;A>G 2373;2|92 N N - 5 132322852 132322852 T G snp downstream AC010240.1 rs12332674 0.114217 0 0 1 0 0 intergenic intergenic downstream AFF4(dist=23498),ZCCHC10(dist=9825) AFF4(dist=23498),ZCCHC10(dist=9826) ENSG00000229738 Na Na Na Na Na Na Het;T>G 67;17|5 Het;T>G 353;13|13 Hom;T>G 809;1|25 N N - 5 132559950 132559950 T G snp ncRNA_exonic AC010307.2 rs2303671 0.441494 0.4243 0.3347 1 0 0 intronic intronic ncRNA_exonic FSTL4 FSTL4 ENSG00000248245 Na Na Na Na Na Na Het;T>G 1398;49|60 Het;T>G 1123;68|56 Hom;T>G 3476;0|123 N N - 5 132569260 132569263 GCCT G indel intronic FSTL4 Fstl4 ENSG00000053108 follistatin like 4 chr5:132532147-132948255 Hypertension; Tobacco Use Disorder; Attention Deficit and Disruptive Behavior Disorders; Blood Cells; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Weight; Myocardial Infarction; Metabolism; Cholesterol, LDL; Insulin Resistance; Hemoglobins; Erythrocyte Count; Basophils; Diabetes Mellitus, Type 1; Cholesterol; Hemoglobin A, Glycosylated; Asthma; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure. GO:0031549;negative regulation of brain-derived neurotrophic factor receptor signaling pathway;IEA|GO:0048670;regulation of collateral sprouting;IEA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0061000;negative regulation of dendritic spine development;IEA GO:0005576;extracellular region;IEA|GO:0030141;secretory granule;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048403;brain-derived neurotrophic factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FSTL4 https://www.uniprot.org/uniprot/Q6MZW2 http://www.informatics.jax.org/searchtool/Search.do?query=FSTL4&submit=Quick%0D%953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSTL4 rs35758896 0.63758 0.5014 0.5615 1 0 0 intronic intronic intronic FSTL4 FSTL4 ENSG00000053108 Na Na Na Na Na Na Het;-CCT 1256;38|34 Het;-CCT 702;23|20 Hom;-CCT 2832;0|66 N N - 5 132632351 132632351 C T snp intronic FSTL4 Fstl4 ENSG00000053108 follistatin like 4 chr5:132532147-132948255 Hypertension; Tobacco Use Disorder; Attention Deficit and Disruptive Behavior Disorders; Blood Cells; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Weight; Myocardial Infarction; Metabolism; Cholesterol, LDL; Insulin Resistance; Hemoglobins; Erythrocyte Count; Basophils; Diabetes Mellitus, Type 1; Cholesterol; Hemoglobin A, Glycosylated; Asthma; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure. GO:0031549;negative regulation of brain-derived neurotrophic factor receptor signaling pathway;IEA|GO:0048670;regulation of collateral sprouting;IEA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0061000;negative regulation of dendritic spine development;IEA GO:0005576;extracellular region;IEA|GO:0030141;secretory granule;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048403;brain-derived neurotrophic factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FSTL4 https://www.uniprot.org/uniprot/Q6MZW2 http://www.informatics.jax.org/searchtool/Search.do?query=FSTL4&submit=Quick%0D%953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSTL4 rs7706742 0.310503 0 0 1 0 0 intronic intronic intronic FSTL4 FSTL4 ENSG00000053108 Na Na Na Na Na Na Het;C>T 38;5|3 Het;C>T 74;6|5 Hom;C>T 210;0|9 N N - 5 132989926 132989926 A G snp intergenic FSTL4 Fstl4 ENSG00000053108 follistatin like 4 chr5:132532147-132948255 Hypertension; Tobacco Use Disorder; Attention Deficit and Disruptive Behavior Disorders; Blood Cells; Coronary Disease|Coronary heart disease|Myocardial Infarction; Body Weight; Myocardial Infarction; Metabolism; Cholesterol, LDL; Insulin Resistance; Hemoglobins; Erythrocyte Count; Basophils; Diabetes Mellitus, Type 1; Cholesterol; Hemoglobin A, Glycosylated; Asthma; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure. GO:0031549;negative regulation of brain-derived neurotrophic factor receptor signaling pathway;IEA|GO:0048670;regulation of collateral sprouting;IEA|GO:0048671;negative regulation of collateral sprouting;IEA|GO:0061000;negative regulation of dendritic spine development;IEA GO:0005576;extracellular region;IEA|GO:0030141;secretory granule;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048403;brain-derived neurotrophic factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FSTL4 https://www.uniprot.org/uniprot/Q6MZW2 http://www.informatics.jax.org/searchtool/Search.do?query=FSTL4&submit=Quick%0D%953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSTL4 rs58556908 0.225839 0 0 1 0 0 intergenic intergenic intergenic FSTL4(dist=41703),C5orf15(dist=301272) FSTL4(dist=41703),C5orf15(dist=301272) ENSG00000263545(dist=28287),ENSG00000251243(dist=66260) Na Na Na Na Na Na Het;A>G 75;2|3 Ref Hom;A>G 134;0|4 N N - 5 133249555 133249555 C T snp ncRNA_exonic WSPAR rs3892476 0.441893 0 0 1 0 0 intergenic intergenic ncRNA_exonic FSTL4(dist=301332),C5orf15(dist=41643) FSTL4(dist=301332),C5orf15(dist=41643) ENSG00000249073 Na Na Na Na Na Na Het;C>T 1111;63|51 Het;C>T 1391;75|64 Hom;C>T 3573;2|130 N N - 5 133249805 133249805 G T snp ncRNA_intronic WSPAR rs3892475 0.377196 0 0 1 0 0 intergenic intergenic ncRNA_intronic FSTL4(dist=301582),C5orf15(dist=41393) FSTL4(dist=301582),C5orf15(dist=41393) ENSG00000249073 Na Na Na Na Na Na Het;G>T 256;6|10 Ref Hom;G>T 384;0|12 N N - 5 133250691 133250691 T C snp ncRNA_intronic WSPAR rs12523211 0.382188 0 0 1 0 0 intergenic intergenic ncRNA_intronic FSTL4(dist=302468),C5orf15(dist=40507) FSTL4(dist=302468),C5orf15(dist=40507) ENSG00000249073 Na Na Na Na Na Na Het;T>C 196;18|9 Het;T>C 156;9|7 Hom;T>C 485;0|18 N N - 5 134475907 134475907 T C snp intronic C5orf66 rs607488 0.401358 0 0 1 0 0 intronic intronic intronic C5orf66 LOC100996485 ENSG00000224186 Na Na Na Na Na Na Het;T>C 128;5|5 Het;T>C 105;7|5 Hom;T>C 387;0|15 N N - 5 135692143 135692143 A G snp intronic TRPC7 Trpc7 ENSG00000069018 transient receptor potential cation channel subfamily C member 7 chr5:135548999-135732730 Chromosome Deletion|Myelodysplastic Syndromes; Lipoproteins; Body Mass Index; Diabetes Mellitus; Body Weight Changes; Bipolar Disorder; Body Composition; Follicle Stimulating Hormone; Tobacco Use Disorder; C-Reactive Protein; Body Weight; Bone Density Mice homozygous for a knock-out allele exhibit abnormal eye physiology. Role of second messengers in netrin-1 signaling GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006828;manganese ion transport;IEA|GO:0007338;single fertilization;IBA|GO:0030168;platelet activation;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IBA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005801;cis-Golgi network;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0015279;store-operated calcium channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRPC7 https://www.uniprot.org/uniprot/Q9HCX4 http://www.informatics.jax.org/searchtool/Search.do?query=TRPC7&submit=Quick%0D%1307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC7 rs2649699 0.663938 0 0 1 0 0 intronic intronic intronic TRPC7 TRPC7 ENSG00000069018 Na Na Na Na Na Na Het;A>G 121;3|4 Ref Hom;A>G 143;0|4 N N - 5 137844274 137844274 A G snp intronic ETF1 Etf1 ENSG00000120705 eukaryotic translation termination factor 1 chr5:137841784-137878989 This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013] HIV Infections|[X]Human immunodeficiency virus disease Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006412;translation;IEA|GO:0006415;translational termination;TAS|GO:0006449;regulation of translational termination;TAS|GO:0006479;protein methylation;IDA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS GO:0003723;RNA binding;TAS|GO:0003747;translation release factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008079;translation termination factor activity;TAS|GO:0016149;translation release factor activity, codon specific;IEA|GO:0043022;ribosome binding;TAS|GO:1990825;sequence-specific mRNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ETF1 https://www.uniprot.org/uniprot/P62495 https://www.ncbi.nlm.nih.gov/omim/?term=600285 http://www.informatics.jax.org/searchtool/Search.do?query=ETF1&submit=Quick%0D%5239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETF1 rs2242599 0.526957 0 0 1 0 0 intronic intronic intronic ETF1 ETF1 ENSG00000120705 Na Na Na Na Na Na Het;A>G 459;24|20 Het;A>G 279;21|12 Hom;A>G 1213;0|40 N N - 5 137849526 137849526 C T snp intronic ETF1 Etf1 ENSG00000120705 eukaryotic translation termination factor 1 chr5:137841784-137878989 This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013] HIV Infections|[X]Human immunodeficiency virus disease Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006412;translation;IEA|GO:0006415;translational termination;TAS|GO:0006449;regulation of translational termination;TAS|GO:0006479;protein methylation;IDA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS GO:0003723;RNA binding;TAS|GO:0003747;translation release factor activity;TAS|GO:0005515;protein binding;IPI|GO:0008079;translation termination factor activity;TAS|GO:0016149;translation release factor activity, codon specific;IEA|GO:0043022;ribosome binding;TAS|GO:1990825;sequence-specific mRNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ETF1 https://www.uniprot.org/uniprot/P62495 https://www.ncbi.nlm.nih.gov/omim/?term=600285 http://www.informatics.jax.org/searchtool/Search.do?query=ETF1&submit=Quick%0D%5239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETF1 rs10077407 0.526957 0 0 1 0 0 intronic intronic intronic ETF1 ETF1 ENSG00000120705 Na Na Na Na Na Na Het;C>T 41;14|3 Het;C>T 171;9|7 Hom;C>T 434;0|17 N N - 5 137897174 137897174 C T snp intronic HSPA9 Hspa9 ENSG00000113013 heat shock protein family A (Hsp70) member 9 chr5:137890571-137911133 This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010] Aging/ Telomere Length; Parkinson's disease ; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit complete embryonic lethality while heterozygotes display decreased pre-B cell number. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0006457;protein folding;IEA|GO:0006611;protein export from nucleus;IEA|GO:0030218;erythrocyte differentiation;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045647;negative regulation of erythrocyte differentiation;IMP|GO:1902037;negative regulation of hematopoietic stem cell differentiation;IEA|GO:1903707;negative regulation of hemopoiesis;IEA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/HSPA9 https://www.uniprot.org/uniprot/P38646 https://hpo.jax.org/app/browse/search?q=HSPA9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600548 http://www.informatics.jax.org/searchtool/Search.do?query=HSPA9&submit=Quick%0D%4313ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA9 rs2304057 0.506589 0 0 1 0 0 intronic intronic intronic HSPA9 HSPA9 ENSG00000113013 Na Na Na Na Na Na Het;C>T 161;12|6 Het;C>T 273;2|9 Hom;C>T 356;0|10 N N - 5 137909674 137909677 GAGA G indel intronic HSPA9 Hspa9 ENSG00000113013 heat shock protein family A (Hsp70) member 9 chr5:137890571-137911133 This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010] Aging/ Telomere Length; Parkinson's disease ; cognitive trait; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit complete embryonic lethality while heterozygotes display decreased pre-B cell number. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0006457;protein folding;IEA|GO:0006611;protein export from nucleus;IEA|GO:0030218;erythrocyte differentiation;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045647;negative regulation of erythrocyte differentiation;IMP|GO:1902037;negative regulation of hematopoietic stem cell differentiation;IEA|GO:1903707;negative regulation of hemopoiesis;IEA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0042645;mitochondrial nucleoid;IDA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/HSPA9 https://www.uniprot.org/uniprot/P38646 https://hpo.jax.org/app/browse/search?q=HSPA9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600548 http://www.informatics.jax.org/searchtool/Search.do?query=HSPA9&submit=Quick%0D%4313ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA9 rs34472800 0.505391 0 0 1 0 0 intronic intronic intronic HSPA9 HSPA9 ENSG00000113013 Na Na Na Na Na Na Het;-AGA 502;13|14 Het;-AGA 353;10|10 Hom;-AGA 629;0|15 N N - 5 138088749 138088749 G C snp ncRNA_exonic AC034243.1 rs700619 0.814297 0 0 1 0 0 upstream upstream ncRNA_exonic CTNNA1 CTNNA1 ENSG00000253404 Na Na Na Na Na Na Het;G>C 381;16|16 Het;G>C 388;13|18 Hom;G>C 669;0|25 N N - 5 138098176 138098176 G GT indel intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs397882169 0.728035 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;+T 112;2|7 Het;+T 117;2|7 Hom;+T 83;0|5 N N - 5 138098430 138098430 C T snp intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs700621 0.698682 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;C>T 216;16|10 Het;C>T 127;11|7 Hom;C>T 643;0|21 N N - 5 138116637 138116639 CTG C indel intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs3048865 0.729832 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;-TG 1524;40|41 Het;-TG 1234;52|34 Hom;-TG 3367;0|76 N N - 5 138117938 138117938 A G snp intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs700626 0.773962 0 0.6952 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;A>G 436;21|20 Het;A>G 531;15|19 Hom;A>G 1765;0|64 N N - 5 138151325 138151325 G A snp intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs4835704 0.815096 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;G>A 108;4|6 Het;G>A 40;2|2 Hom;G>A 375;0|12 N N - 5 138160056 138160056 A G snp intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs6860780 0.740415 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;A>G 373;14|14 Het;A>G 229;23|12 Hom;A>G 942;0|31 N N - 5 138162129 138162129 T C snp intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs3804199 0.697684 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;T>C 114;4|4 Het;T>C 115;3|4 Hom;T>C 133;0|4 N N - 5 138183857 138183857 T TG indel intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs11388766 0.8127 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;+G 760;33|24 Het;+G 912;52|30 Hom;+G 3347;0|84 N N - 5 138200942 138200942 C T snp intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs495638 0.739417 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;C>T 419;51|24 Het;C>T 293;37|20 Hom;C>T 1282;0|50 N N - 5 138201962 138201970 CATTTATTT C indel intronic CTNNA1 Ctnna1 ENSG00000044115 catenin alpha 1 chr5:137946656-138270723 This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016] Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. RHO GTPases activate IQGAPs GO:0001541;ovarian follicle development;IEA|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007568;aging;IEA|GO:0008584;male gonad development;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016264;gap junction assembly;IEA|GO:0031103;axon regeneration;IEA|GO:0034332;adherens junction organization;TAS|GO:0034613;cellular protein localization;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043297;apical junction assembly;NAS|GO:0043627;response to estrogen;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0048854;brain morphogenesis;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0071681;cellular response to indole-3-methanol;IDA|GO:0090136;epithelial cell-cell adhesion;IEA|GO:2000146;negative regulation of cell motility;IEA|GO:2001045;negative regulation of integrin-mediated signaling pathway;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;IEA|GO:0005915;zonula adherens;IEA|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016342;catenin complex;IDA|GO:0016600;flotillin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0017166;vinculin binding;IPI|GO:0045295;gamma-catenin binding;IPI|GO:0045296;cadherin binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTNNA1 https://www.uniprot.org/uniprot/P35221 https://hpo.jax.org/app/browse/search?q=CTNNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=116805 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNA1&submit=Quick%0D%851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNA1 rs367591001 0 0 0 1 0 0 intronic intronic intronic CTNNA1 CTNNA1 ENSG00000044115 Na Na Na Na Na Na Het;-ATTTATTT 164;3|5 Het;-ATTTATTT 41;2|2 Hom;-ATTTATTT 405;0|10 N N - 5 13911405 13911405 G T snp intronic DNAH5 Dnah5 ENSG00000039139 dynein axonemal heavy chain 5 chr5:13690440-13944652 This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] Cholesterol, HDL; subclinical atherosclerosis traits (other); Asthenozoospermia|Kartagener Syndrome; Blood Pressure; Kartagener Syndrome; Potassium; Arteries; Rhinitis, Allergic, Seasonal; Lipoproteins, VLDL; Ankle Brachial Index Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0008150;biological_process;ND|GO:0021670;lateral ventricle development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0036157;outer dynein arm;IDA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH5 https://www.uniprot.org/uniprot/Q8TE73 https://hpo.jax.org/app/browse/search?q=DNAH5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603335 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH5&submit=Quick%0D%808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH5 rs3765045 0.297324 0 0 1 0 0 intronic intronic intronic DNAH5 DNAH5 ENSG00000039139 Na Na Na Na Na Na Het;G>T 562;17|20 Het;G>T 376;15|15 Hom;G>T 1063;0|36 N N - 5 13911704 13911704 A T snp intronic DNAH5 Dnah5 ENSG00000039139 dynein axonemal heavy chain 5 chr5:13690440-13944652 This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] Cholesterol, HDL; subclinical atherosclerosis traits (other); Asthenozoospermia|Kartagener Syndrome; Blood Pressure; Kartagener Syndrome; Potassium; Arteries; Rhinitis, Allergic, Seasonal; Lipoproteins, VLDL; Ankle Brachial Index Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0008150;biological_process;ND|GO:0021670;lateral ventricle development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0036157;outer dynein arm;IDA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH5 https://www.uniprot.org/uniprot/Q8TE73 https://hpo.jax.org/app/browse/search?q=DNAH5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603335 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH5&submit=Quick%0D%808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH5 rs67065537 0.217252 0 0 1 0 0 intronic intronic intronic DNAH5 DNAH5 ENSG00000039139 Na Na Na Na Na Na Het;A>T 519;13|20 Het;A>T 380;12|16 Hom;A>T 583;0|18 N N - 5 13917111 13917111 A G snp intronic DNAH5 Dnah5 ENSG00000039139 dynein axonemal heavy chain 5 chr5:13690440-13944652 This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] Cholesterol, HDL; subclinical atherosclerosis traits (other); Asthenozoospermia|Kartagener Syndrome; Blood Pressure; Kartagener Syndrome; Potassium; Arteries; Rhinitis, Allergic, Seasonal; Lipoproteins, VLDL; Ankle Brachial Index Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0008150;biological_process;ND|GO:0021670;lateral ventricle development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0036157;outer dynein arm;IDA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH5 https://www.uniprot.org/uniprot/Q8TE73 https://hpo.jax.org/app/browse/search?q=DNAH5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603335 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH5&submit=Quick%0D%808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH5 rs72735065 0.203275 0 0 1 0 0 intronic intronic intronic DNAH5 DNAH5 ENSG00000039139 Na Na Na Na Na Na Het;A>G 115;5|4 Het;A>G 182;7|6 Hom;A>G 259;0|7 N N - 5 13919255 13919255 T G snp intronic DNAH5 Dnah5 ENSG00000039139 dynein axonemal heavy chain 5 chr5:13690440-13944652 This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] Cholesterol, HDL; subclinical atherosclerosis traits (other); Asthenozoospermia|Kartagener Syndrome; Blood Pressure; Kartagener Syndrome; Potassium; Arteries; Rhinitis, Allergic, Seasonal; Lipoproteins, VLDL; Ankle Brachial Index Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0008150;biological_process;ND|GO:0021670;lateral ventricle development;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0060271;cilium assembly;IMP GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0030286;dynein complex;IEA|GO:0036157;outer dynein arm;IDA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH5 https://www.uniprot.org/uniprot/Q8TE73 https://hpo.jax.org/app/browse/search?q=DNAH5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603335 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH5&submit=Quick%0D%808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH5 rs35925547 0.195887 0.2201 0.2586 1 0 0 intronic intronic intronic DNAH5 DNAH5 ENSG00000039139 Na Na Na Na Na Na Het;T>G 610;23|25 Het;T>G 408;12|20 Hom;T>G 1258;0|43 N N - 5 141276274 141276274 T G snp upstream LOC729080 rs7702860 0.645966 0 0 1 0 0 upstream upstream upstream LOC729080 LOC729080 ENSG00000226040 Na Na Na Na Na Na Het;T>G 312;1|9 Het;T>G 434;5|15 Hom;T>G 595;1|18 N N - 5 14290805 14290805 G A snp intronic TRIO Trio ENSG00000038382 trio Rho guanine nucleotide exchange factor chr5:14143811-14532235 This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] coronary spastic angina; Breath Tests; Tobacco Use Disorder; Blood Vessels Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb. DCC mediated attractive signaling GO:0006468;protein phosphorylation;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRIO https://www.uniprot.org/uniprot/O75962 https://hpo.jax.org/app/browse/search?q=TRIO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601893 http://www.informatics.jax.org/searchtool/Search.do?query=TRIO&submit=Quick%0D%802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIO rs30629 0.410743 0.4419 0.5072 1 0 0 intronic intronic intronic TRIO TRIO ENSG00000038382 Na Na Na Na Na Na Het;G>A 630;25|27 Het;G>A 459;16|18 Hom;G>A 997;0|36 N N - 5 144202677 144202677 G A snp intergenic KCTD16 Kctd16 ENSG00000183775 potassium channel tetramerization domain containing 16 chr5:143550396-143865249 Tobacco Use Disorder; Lipoproteins; Coronary Artery Disease Homozygous knockout leads to reduced extinction or increase of fear memory in cued or contextual conditioning behavior tests, respectively. GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0051260;protein homooligomerization;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCTD16 https://www.ncbi.nlm.nih.gov/omim/?term=613423 http://www.informatics.jax.org/searchtool/Search.do?query=KCTD16&submit=Quick%0D%15072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCTD16 rs248576 0.385783 0 0 1 0 0 intergenic intergenic intergenic KCTD16(dist=345733),PRELID2(dist=933230) KCTD16(dist=345733),PRELID2(dist=935905) ENSG00000201423(dist=287444),ENSG00000249229(dist=178739) Na Na Na Na Na Na Het;G>A 82;2|4 Het;G>A 93;5|4 Hom;G>A 60;0|3 N N - 5 144653639 144653639 A C snp intergenic KCTD16 Kctd16 ENSG00000183775 potassium channel tetramerization domain containing 16 chr5:143550396-143865249 Tobacco Use Disorder; Lipoproteins; Coronary Artery Disease Homozygous knockout leads to reduced extinction or increase of fear memory in cued or contextual conditioning behavior tests, respectively. GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0051260;protein homooligomerization;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCTD16 https://www.ncbi.nlm.nih.gov/omim/?term=613423 http://www.informatics.jax.org/searchtool/Search.do?query=KCTD16&submit=Quick%0D%15072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCTD16 rs1843587 0.314497 0 0 1 0 0 intergenic intergenic intergenic KCTD16(dist=796695),PRELID2(dist=482268) KCTD16(dist=796695),PRELID2(dist=484943) ENSG00000215325(dist=44022),ENSG00000250842(dist=63856) Na Na Na Na Na Na Het;A>C 460;17|22 Het;A>C 399;15|17 Hom;A>C 1060;0|36 N N - 5 1464028 1464028 C T snp intronic LPCAT1 Lpcat1 ENSG00000275079 lysophosphatidylcholine acyltransferase 1 chr5:1456595-1524092 This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016] Forced Expiratory Volume; Alcoholism; Myocardial Infarction Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. GO:0008152;metabolic process;IEA GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1 https://www.ncbi.nlm.nih.gov/omim/?term=610472 http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1 rs6876662 0.624002 0 0 1 0 0 intronic intronic intronic LPCAT1 LPCAT1 ENSG00000153395 Na Na Na Na Na Na Het;C>T 190;5|8 Ref Hom;C>T 166;0|5 N N - 5 1466686 1466686 G C snp intronic LPCAT1 Lpcat1 ENSG00000275079 lysophosphatidylcholine acyltransferase 1 chr5:1456595-1524092 This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016] Forced Expiratory Volume; Alcoholism; Myocardial Infarction Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. GO:0008152;metabolic process;IEA GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1 https://www.ncbi.nlm.nih.gov/omim/?term=610472 http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1 rs2277008 0.710463 0 0 1 0 0 intronic intronic intronic LPCAT1 LPCAT1 ENSG00000153395 Na Na Na Na Na Na Het;G>C 289;7|9 Het;G>C 216;6|7 Hom;G>C 212;0|6 N N - 5 1466813 1466813 T C snp intronic LPCAT1 Lpcat1 ENSG00000275079 lysophosphatidylcholine acyltransferase 1 chr5:1456595-1524092 This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016] Forced Expiratory Volume; Alcoholism; Myocardial Infarction Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. GO:0008152;metabolic process;IEA GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1 https://www.ncbi.nlm.nih.gov/omim/?term=610472 http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1 rs2277007 0.701478 0.6977 0.7212 1 0 0 intronic intronic intronic LPCAT1 LPCAT1 ENSG00000153395 Na Na Na Na Na Na Het;T>C 1664;66|73 Het;T>C 1335;51|50 Hom;T>C 2778;1|98 N N - 5 147444785 147444785 A G snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs2287772 0.657348 0 0 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;A>G 327;8|10 Ref Hom;A>G 413;0|11 N N - 5 147444989 147444989 G A snp UTR5 -4900G>A SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs9325061 0.790735 0.6731 0 1 0 0 intronic UTR5 intronic SPINK5 SPINK5(uc010jgs.1:c.-4900G>A) ENSG00000133710 Na Na Na Na Na Na Het;G>A 1542;53|55 Ref Hom;G>A 5759;0|174 N N - 5 147445023 147445023 C G snp UTR5 -4866C>G SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs1609851 0.790735 0.6748 0 1 0 0 intronic UTR5 intronic SPINK5 SPINK5(uc010jgs.1:c.-4866C>G) ENSG00000133710 Na Na Na Na Na Na Het;C>G 1182;31|31 Ref Hom;C>G 3299;0|71 N N - 5 147449855 147449855 A G snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs1423001 0 0.7233 0.7300 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;A>G 370;16|15 Ref Hom;A>G 1198;0|43 N N - 5 147450085 147450085 C A snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs3752676 0.80611 0 0 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;C>A 205;13|10 Ref Hom;C>A 950;0|32 N N - 5 147468971 147468971 G C snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs4529181 0 0 0 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;G>C 142;7|5 Ref Hom;G>C 468;0|14 N N - 5 147493871 147493871 G A snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs3815735 0.78734 0 0 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;G>A 317;12|13 Ref Hom;G>A 697;1|24 N N - 5 147498652 147498652 C G snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs9325073 0.837859 0.7746 0.8020 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;C>G 910;24|42 Ref Hom;C>G 1315;0|50 N N - 5 147498669 147498669 G A snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs9325074 0.837859 0.7729 0.8005 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;G>A 993;19|28 Ref Hom;G>A 977;0|27 N N - 5 147504315 147504315 A T snp intronic SPINK5 Spink5 ENSG00000133710 serine peptidase inhibitor, Kazal type 5 chr5:147405246-147516852 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] asthma; longevity; Type 2 Diabetes| edema | rosiglitazone; Atopic dermatitis. atopy; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Asthma|; bronchodilator response; celiac disease; asthma; atopic dermatitis; atopic dermatitis; diabetes, type 1; atopy. asthma. Netherton; Dermatitis, Atopic|Eczema allergic; Eczema; Inflammation|Prenatal Exposure Delayed Effects|Recurrence|Respiratory Sounds Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. Formation of the cornified envelope GO:0002787;negative regulation of antibacterial peptide production;IEA|GO:0009913;epidermal cell differentiation;IDA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016525;negative regulation of angiogenesis;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030855;epithelial cell differentiation;TAS|GO:0035315;hair cell differentiation;TAS|GO:0042640;anagen;TAS|GO:0045580;regulation of T cell differentiation;TAS|GO:0045861;negative regulation of proteolysis;IEA|GO:0050777;negative regulation of immune response;TAS|GO:0070268;cornification;TAS|GO:1900004;negative regulation of serine-type endopeptidase activity;IEA|GO:1902572;negative regulation of serine-type peptidase activity;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;IDA|GO:0005938;cell cortex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097209;epidermal lamellar body;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINK5 https://www.uniprot.org/uniprot/Q9NQ38 https://hpo.jax.org/app/browse/search?q=SPINK5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605010 http://www.informatics.jax.org/searchtool/Search.do?query=SPINK5&submit=Quick%0D%6863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINK5 rs2052537 0.829273 0.7086 0.8085 1 0 0 intronic intronic intronic SPINK5 SPINK5 ENSG00000133710 Na Na Na Na Na Na Het;A>T 1603;34|43 Ref Hom;A>T 3315;1|94 N N - 5 148364709 148364709 G GA indel UTR3 *19565C>TC SH3TC2 Sh3tc2 ENSG00000169247 SH3 domain and tetratricopeptide repeats 2 chr5:148303202-148442726 This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. GO:0022011;myelination in peripheral nervous system;IEA|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0033157;regulation of intracellular protein transport;IEA|GO:1901184;regulation of ERBB signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3TC2 https://hpo.jax.org/app/browse/search?q=SH3TC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608206 http://www.informatics.jax.org/searchtool/Search.do?query=SH3TC2&submit=Quick%0D%12455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3TC2 rs398109536 0.681709 0 0 1 0 0 UTR3 UTR3 intronic SH3TC2(NM_024577:c.*19565C>TC) SH3TC2(uc010jgw.3:c.*19565C>TC,uc003lpt.3:c.*19565C>TC,uc010jgx.3:c.*19565C>TC,uc003lpu.3:c.*19565C>TC) ENSG00000169247 Na Na Na Na Na Na Het;+A 925;10|46 Ref Hom;+A 2289;0|63 N N - 5 148367372 148367374 CTG C indel UTR3 *16902_*16900delinsG SH3TC2 Sh3tc2 ENSG00000169247 SH3 domain and tetratricopeptide repeats 2 chr5:148303202-148442726 This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Celiac Disease|; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. GO:0022011;myelination in peripheral nervous system;IEA|GO:0032287;peripheral nervous system myelin maintenance;IEA|GO:0033157;regulation of intracellular protein transport;IEA|GO:1901184;regulation of ERBB signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0055037;recycling endosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3TC2 https://hpo.jax.org/app/browse/search?q=SH3TC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608206 http://www.informatics.jax.org/searchtool/Search.do?query=SH3TC2&submit=Quick%0D%12455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3TC2 rs553399404 0.534744 0 0 1 0 0 UTR3 UTR3 intronic SH3TC2(NM_024577:c.*16902_*16900delinsG) SH3TC2(uc010jgw.3:c.*16902_*16900delinsG,uc003lpt.3:c.*16902_*16900delinsG,uc010jgx.3:c.*16902_*16900delinsG,uc003lpu.3:c.*16902_*16900delinsG) ENSG00000169247 Na Na Na Na Na Na Het;-TG 440;3|21 Ref Hom;-TG 530;0|17 N N - 5 148848156 148848156 G T snp intergenic MIR143HG rs11957009 0.182308 0 0 1 0 0 intergenic intergenic intergenic MIR143HG(dist=35757),CSNK1A1(dist=27301) MIR143HG(dist=35759),L26953(dist=24789) ENSG00000269936(dist=35759),ENSG00000113712(dist=23604) Na Na Na Na Na Na Het;G>T 68;4|4 Ref Hom;G>T 260;0|9 N N - 5 149001283 149001283 T C snp intronic ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs78820823 0.169129 0.1236 0.1719 1 0 0 intronic intronic intronic ARHGEF37 ARHGEF37 ENSG00000183111 Na Na Na Na Na Na Het;T>C 701;18|25 Ref Hom;T>C 1258;0|40 N N - 5 149006837 149006837 A G snp intronic ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs7732873 0.615216 0.6834 0.6616 1 0 0 intronic intronic intronic ARHGEF37 ARHGEF37 ENSG00000183111 Na Na Na Na Na Na Het;A>G 1440;63|60 Ref Hom;A>G 4308;0|153 N N - 5 149006879 149006879 A G snp intronic ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs7733002 0.615415 0.6803 0.6614 1 0 0 intronic intronic intronic ARHGEF37 ARHGEF37 ENSG00000183111 Na Na Na Na Na Na Het;A>G 747;44|30 Ref Hom;A>G 1975;0|62 N N - 5 149008403 149008403 A G snp synonymous SNV A1692G L564L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs1056993 0.672125 0.6892 0.6896 1 0 0 exonic exonic exonic ARHGEF37 ARHGEF37 ENSG00000183111 synonymous SNV synonymous SNV unknown ARHGEF37:NM_001001669:exon12:c.A1692G:p.L564L, ARHGEF37:uc003lra.1:exon12:c.A1692G:p.L564L, UNKNOWN Het;A>G 1388;66|66 Ref Hom;A>G 2841;2|106 N N - 5 149008467 149008467 C A snp nonsynonymous SNV C1756A P586T hydrophobic,neutral polar,hydrophilic,neutral ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs3733662 0.160343 0.1165 0.1634 0.08 1 13 exonic exonic exonic ARHGEF37 ARHGEF37 ENSG00000183111 nonsynonymous SNV nonsynonymous SNV unknown ARHGEF37:NM_001001669:exon12:c.C1756A:p.P586T, ARHGEF37:uc003lra.1:exon12:c.C1756A:p.P586T, UNKNOWN Het;C>A 678;50|35 Ref Hom;C>A 2558;0|94 N N - 5 149008521 149008521 A G snp nonsynonymous SNV A1810G M604V hydrophobic,neutral aliphatic,hydrophobic,neutral ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs1135093 0.69369 0.7105 0.6952 0.15 2 13 exonic exonic exonic ARHGEF37 ARHGEF37 ENSG00000183111 nonsynonymous SNV nonsynonymous SNV unknown ARHGEF37:NM_001001669:exon12:c.A1810G:p.M604V, ARHGEF37:uc003lra.1:exon12:c.A1810G:p.M604V, UNKNOWN Het;A>G 472;34|18 Ref Hom;A>G 1604;0|58 N N - 5 149374932 149374932 T C snp nonsynonymous SNV A980G Q327R polar,hydrophilic,neutral polar,hydrophilic,charged(+) TIGD6 ENSG00000164296 tigger transposable element derived 6 chr5:149372681-149380730 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009] GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIGD6 http://www.informatics.jax.org/searchtool/Search.do?query=TIGD6&submit=Quick%0D%11266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD6 rs10875553 0.667532 0.7104 0.7538 0.15 2 13 exonic exonic exonic TIGD6 TIGD6 ENSG00000164296 nonsynonymous SNV nonsynonymous SNV unknown TIGD6:NM_001243253:exon2:c.A980G:p.Q327R,TIGD6:NM_030953:exon2:c.A980G:p.Q327R, TIGD6:uc003lrj.3:exon2:c.A980G:p.Q327R,TIGD6:uc021yft.1:exon1:c.A980G:p.Q327R,TIGD6:uc003lri.3:exon2:c.A980G:p.Q327R, UNKNOWN Het;T>C 2909;68|114 Het;T>C 2253;77|91 Hom;T>C 5145;0|176 N N - 5 149384680 149384680 A G snp intronic HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs6861548 0.807708 0 0 1 0 0 intronic intronic intronic HMGXB3 HMGXB3 ENSG00000113716 Na Na Na Na Na Na Het;A>G 194;5|8 Ref Hom;A>G 704;0|17 N N - 5 149401596 149401596 T C snp intronic HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs10072275 0.78155 0 0 1 0 0 intronic intronic intronic HMGXB3 HMGXB3 ENSG00000113716 Na Na Na Na Na Na Het;T>C 117;2|5 Het;T>C 55;14|5 Hom;T>C 203;0|9 N N - 5 149406271 149406271 C T snp nonsynonymous SNV C1463T A488V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs6579767 0.801118 0.8491 0.7800 0.17 2 12 exonic exonic exonic HMGXB3 HMGXB3 ENSG00000113716 nonsynonymous SNV nonsynonymous SNV unknown HMGXB3:NM_014983:exon8:c.C1463T:p.A488V, HMGXB3:uc003lrk.4:exon8:c.C1463T:p.A488V, UNKNOWN Het;C>T 832;29|37 Het;C>T 563;23|25 Hom;C>T 1281;0|46 N N - 5 149406733 149406733 G T snp intronic HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs2304069 0.74381 0.8090 0 1 0 0 intronic intronic intronic HMGXB3 HMGXB3 ENSG00000113716 Na Na Na Na Na Na Het;G>T 184;9|9 Het;G>T 116;14|6 Hom;G>T 498;2|18 N N - 5 149424966 149424966 G A snp intronic HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs2276983 0.799321 0 0 1 0 0 intronic intronic intronic HMGXB3 HMGXB3 ENSG00000113716 Na Na Na Na Na Na Het;G>A 209;7|9 Het;G>A 396;9|14 Hom;G>A 738;0|25 N N - 5 149431223 149431223 G A snp intronic HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs216131 0.8125 0 0 1 0 0 intronic intronic intronic HMGXB3 HMGXB3 ENSG00000113716 Na Na Na Na Na Na Het;G>A 467;14|15 Het;G>A 504;9|17 Hom;G>A 804;0|24 N N - 5 149431259 149431259 A G snp intronic HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs216132 0.79972 0.8263 0.8109 1 0 0 intronic intronic intronic HMGXB3 HMGXB3 ENSG00000113716 Na Na Na Na Na Na Het;A>G 932;46|36 Het;A>G 1152;21|41 Hom;A>G 1790;0|59 N N - 5 149433596 149433596 T G snp UTR3 *36A>C CSF1R Csf1r ENSG00000182578 colony stimulating factor 1 receptor chr5:149432854-149492935 The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. Other interleukin signaling GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CSF1R https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164770 http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R rs2066934 0.796725 0.4808 0.7754 1 0 0 UTR3 UTR3 UTR3 CSF1R(NM_005211:c.*36A>C,NM_001288705:c.*36A>C) CSF1R(uc011dcd.2:c.*133A>C,uc003lrl.3:c.*36A>C,uc003lrm.3:c.*36A>C) ENSG00000182578(ENST00000286301:c.*36A>C,ENST00000504875:c.*776A>C) Na Na Na Na Na Na Het;T>G 2603;59|67 Het;T>G 1828;74|49 Hom;T>G 4791;0|108 N N - 5 149433597 149433597 G A snp UTR3 *35C>T CSF1R Csf1r ENSG00000182578 colony stimulating factor 1 receptor chr5:149432854-149492935 The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. Other interleukin signaling GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CSF1R https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164770 http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R rs2066933 0.795927 0.4959 0.7745 1 0 0 UTR3 UTR3 UTR3 CSF1R(NM_005211:c.*35C>T,NM_001288705:c.*35C>T) CSF1R(uc011dcd.2:c.*132C>T,uc003lrl.3:c.*35C>T,uc003lrm.3:c.*35C>T) ENSG00000182578(ENST00000286301:c.*35C>T,ENST00000504875:c.*775C>T) Na Na Na Na Na Na Het;G>A 2603;57|67 Het;G>A 1828;74|50 Hom;G>A 2994;2|106 N N - 5 149437190 149437190 C G snp intronic CSF1R Csf1r ENSG00000182578 colony stimulating factor 1 receptor chr5:149432854-149492935 The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. Other interleukin signaling GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CSF1R https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164770 http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R rs216138 0.791933 0.8212 0.7705 1 0 0 intronic intronic intronic CSF1R CSF1R ENSG00000182578 Na Na Na Na Na Na Het;C>G 571;20|26 Het;C>G 475;28|23 Hom;C>G 1623;0|57 N N - 5 149439588 149439588 T C snp intronic CSF1R Csf1r ENSG00000182578 colony stimulating factor 1 receptor chr5:149432854-149492935 The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. Other interleukin signaling GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CSF1R https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164770 http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R rs6866298 0.792532 0 0 1 0 0 intronic intronic intronic CSF1R CSF1R ENSG00000182578 Na Na Na Na Na Na Het;T>C 140;7|5 Het;T>C 45;2|2 Hom;T>C 136;0|4 N N - 5 149447628 149447628 A G snp intronic CSF1R Csf1r ENSG00000182578 colony stimulating factor 1 receptor chr5:149432854-149492935 The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Tobacco Use Disorder; Pancreatic Neoplasms; myelodysplastic syndrome; bladder cancer; chronic obstructive pulmonary disease; Bone Mineral Density; lung cancer; asthma; Myelodysplastic Syndromes|Purpura, Thrombocytopenic, Idiopathic; Crohn's disease; Parkinson's disease; Congenital Heart Defects|Heart Defects, Congenital; lung cancer Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. Other interleukin signaling GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006954;inflammatory response;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008360;regulation of cell shape;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0021772;olfactory bulb development;IEA|GO:0021879;forebrain neuron differentiation;IEA|GO:0030097;hemopoiesis;IMP|GO:0030224;monocyte differentiation;TAS|GO:0030225;macrophage differentiation;TAS|GO:0030316;osteoclast differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0031529;ruffle organization;IEA|GO:0036006;cellular response to macrophage colony-stimulating factor stimulus;IMP|GO:0038145;macrophage colony-stimulating factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045087;innate immune response;IEA|GO:0045124;regulation of bone resorption;ISS|GO:0045217;cell-cell junction maintenance;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0060603;mammary gland duct morphogenesis;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090197;positive regulation of chemokine secretion;IMP|GO:2000147;positive regulation of cell motility;IMP|GO:2000249;regulation of actin cytoskeleton reorganization;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:1990682;CSF1-CSF1R complex;ISS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005011;macrophage colony-stimulating factor receptor activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019903;protein phosphatase binding;IEA|GO:0019955;cytokine binding;IEA|GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/CSF1R https://hpo.jax.org/app/browse/search?q=CSF1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164770 http://www.informatics.jax.org/searchtool/Search.do?query=CSF1R&submit=Quick%0D%14816ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF1R rs216150 0.657548 0 0 1 0 0 intronic intronic intronic CSF1R CSF1R ENSG00000182578 Na Na Na Na Na Na Het;A>G 79;4|4 Het;A>G 150;5|5 Hom;A>G 126;0|4 N N - 5 149583300 149583300 T C snp synonymous SNV T1158C F386F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral SLC6A7 Slc6a7 ENSG00000011083 solute carrier family 6 member 7 chr5:149569520-149602351 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; alcohol consumption; Hyperparathyroidism, Secondary; asthma Creatine metabolism GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;IEA|GO:0015824;proline transport;TAS|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005298;proline:sodium symporter activity;TAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015193;L-proline transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A7 https://www.uniprot.org/uniprot/Q99884 https://www.ncbi.nlm.nih.gov/omim/?term=606205 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A7&submit=Quick%0D%541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A7 rs2240793 0.661741 0.7186 0.7100 1 0 0 exonic exonic exonic SLC6A7 SLC6A7 ENSG00000011083 synonymous SNV synonymous SNV unknown SLC6A7:NM_014228:exon9:c.T1158C:p.F386F, SLC6A7:uc003lrr.3:exon9:c.T1158C:p.F386F, UNKNOWN Het;T>C 2215;96|101 Het;T>C 1713;91|76 Hom;T>C 7105;0|200 N N - 5 149792113 149792113 G A snp intronic CD74 Cd74 ENSG00000019582 CD74 molecule chr5:149781200-149792492 The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Celiac Disease Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection. MHC class II antigen presentation GO:0000187;activation of MAPK activity;IEA|GO:0001516;prostaglandin biosynthetic process;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IMP|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002606;positive regulation of dendritic cell antigen processing and presentation;IEA|GO:0002792;negative regulation of peptide secretion;IDA|GO:0002830;positive regulation of type 2 immune response;IEA|GO:0002906;negative regulation of mature B cell apoptotic process;IEA|GO:0006461;protein complex assembly;ISS|GO:0006886;intracellular protein transport;ISS|GO:0006952;defense response;IEA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IDA|GO:0008283;cell proliferation;IDA|GO:0016064;immunoglobulin mediated immune response;ISS|GO:0019882;antigen processing and presentation;IEA|GO:0019883;antigen processing and presentation of endogenous antigen;NAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0033674;positive regulation of kinase activity;IDA|GO:0035691;macrophage migration inhibitory factor signaling pathway;IEA|GO:0043030;regulation of macrophage activation;NAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045058;T cell selection;NAS|GO:0045059;positive thymic T cell selection;IEA|GO:0045060;negative thymic T cell selection;IEA|GO:0045581;negative regulation of T cell differentiation;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045657;positive regulation of monocyte differentiation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051085;chaperone mediated protein folding requiring cofactor;IEA|GO:0051290;protein heterotetramerization;IDA|GO:0060907;positive regulation of macrophage cytokine production;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;ISS|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:2000343;positive regulation of chemokine (C-X-C motif) ligand 2 production;ISS GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;TAS|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005771;multivesicular body;IEA|GO:0005773;vacuole;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0030658;transport vesicle membrane;TAS|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0035693;NOS2-CD74 complex;IEA|GO:0042613;MHC class II protein complex;ISS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;TAS GO:0001540;beta-amyloid binding;IPI|GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0019955;cytokine binding;IPI|GO:0023026;MHC class II protein complex binding;IDA|GO:0035718;macrophage migration inhibitory factor binding;IPI|GO:0042289;MHC class II protein binding;NAS|GO:0042609;CD4 receptor binding;IPI|GO:0042658;MHC class II protein binding, via antigen binding groove;IDA|GO:0042802;identical protein binding;TAS|GO:0044183;protein binding involved in protein folding;IDA|GO:0050998;nitric-oxide synthase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD74 https://www.uniprot.org/uniprot/P04233 https://www.ncbi.nlm.nih.gov/omim/?term=142790 http://www.informatics.jax.org/searchtool/Search.do?query=CD74&submit=Quick%0D%651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD74 rs11739355 0.121006 0 0 1 0 0 intronic intronic intronic CD74 CD74 ENSG00000019582 Na Na Na Na Na Na Het;G>A 49;9|3 Ref Hom;G>A 226;0|8 N N - 5 149792135 149792135 G A snp intronic CD74 Cd74 ENSG00000019582 CD74 molecule chr5:149781200-149792492 The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Celiac Disease Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection. MHC class II antigen presentation GO:0000187;activation of MAPK activity;IEA|GO:0001516;prostaglandin biosynthetic process;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IMP|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002606;positive regulation of dendritic cell antigen processing and presentation;IEA|GO:0002792;negative regulation of peptide secretion;IDA|GO:0002830;positive regulation of type 2 immune response;IEA|GO:0002906;negative regulation of mature B cell apoptotic process;IEA|GO:0006461;protein complex assembly;ISS|GO:0006886;intracellular protein transport;ISS|GO:0006952;defense response;IEA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IDA|GO:0008283;cell proliferation;IDA|GO:0016064;immunoglobulin mediated immune response;ISS|GO:0019882;antigen processing and presentation;IEA|GO:0019883;antigen processing and presentation of endogenous antigen;NAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0033674;positive regulation of kinase activity;IDA|GO:0035691;macrophage migration inhibitory factor signaling pathway;IEA|GO:0043030;regulation of macrophage activation;NAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045058;T cell selection;NAS|GO:0045059;positive thymic T cell selection;IEA|GO:0045060;negative thymic T cell selection;IEA|GO:0045581;negative regulation of T cell differentiation;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045657;positive regulation of monocyte differentiation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051085;chaperone mediated protein folding requiring cofactor;IEA|GO:0051290;protein heterotetramerization;IDA|GO:0060907;positive regulation of macrophage cytokine production;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;ISS|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:2000343;positive regulation of chemokine (C-X-C motif) ligand 2 production;ISS GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;TAS|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005771;multivesicular body;IEA|GO:0005773;vacuole;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0030658;transport vesicle membrane;TAS|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0035693;NOS2-CD74 complex;IEA|GO:0042613;MHC class II protein complex;ISS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;TAS GO:0001540;beta-amyloid binding;IPI|GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0019955;cytokine binding;IPI|GO:0023026;MHC class II protein complex binding;IDA|GO:0035718;macrophage migration inhibitory factor binding;IPI|GO:0042289;MHC class II protein binding;NAS|GO:0042609;CD4 receptor binding;IPI|GO:0042658;MHC class II protein binding, via antigen binding groove;IDA|GO:0042802;identical protein binding;TAS|GO:0044183;protein binding involved in protein folding;IDA|GO:0050998;nitric-oxide synthase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD74 https://www.uniprot.org/uniprot/P04233 https://www.ncbi.nlm.nih.gov/omim/?term=142790 http://www.informatics.jax.org/searchtool/Search.do?query=CD74&submit=Quick%0D%651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD74 rs11739357 0.121605 0 0 1 0 0 intronic intronic intronic CD74 CD74 ENSG00000019582 Na Na Na Na Na Na Het;G>A 72;15|4 Ref Hom;G>A 475;0|16 N N - 5 149792337 149792337 C T snp UTR5 -25G>A CD74 Cd74 ENSG00000019582 CD74 molecule chr5:149781200-149792492 The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Celiac Disease Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection. MHC class II antigen presentation GO:0000187;activation of MAPK activity;IEA|GO:0001516;prostaglandin biosynthetic process;IDA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IMP|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002606;positive regulation of dendritic cell antigen processing and presentation;IEA|GO:0002792;negative regulation of peptide secretion;IDA|GO:0002830;positive regulation of type 2 immune response;IEA|GO:0002906;negative regulation of mature B cell apoptotic process;IEA|GO:0006461;protein complex assembly;ISS|GO:0006886;intracellular protein transport;ISS|GO:0006952;defense response;IEA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IDA|GO:0008283;cell proliferation;IDA|GO:0016064;immunoglobulin mediated immune response;ISS|GO:0019882;antigen processing and presentation;IEA|GO:0019883;antigen processing and presentation of endogenous antigen;NAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0033674;positive regulation of kinase activity;IDA|GO:0035691;macrophage migration inhibitory factor signaling pathway;IEA|GO:0043030;regulation of macrophage activation;NAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045058;T cell selection;NAS|GO:0045059;positive thymic T cell selection;IEA|GO:0045060;negative thymic T cell selection;IEA|GO:0045581;negative regulation of T cell differentiation;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045657;positive regulation of monocyte differentiation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046598;positive regulation of viral entry into host cell;IDA|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051085;chaperone mediated protein folding requiring cofactor;IEA|GO:0051290;protein heterotetramerization;IDA|GO:0060907;positive regulation of macrophage cytokine production;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;ISS|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IMP|GO:2000343;positive regulation of chemokine (C-X-C motif) ligand 2 production;ISS GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;TAS|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005771;multivesicular body;IEA|GO:0005773;vacuole;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0012507;ER to Golgi transport vesicle membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0030658;transport vesicle membrane;TAS|GO:0030666;endocytic vesicle membrane;TAS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0035693;NOS2-CD74 complex;IEA|GO:0042613;MHC class II protein complex;ISS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;TAS GO:0001540;beta-amyloid binding;IPI|GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0019955;cytokine binding;IPI|GO:0023026;MHC class II protein complex binding;IDA|GO:0035718;macrophage migration inhibitory factor binding;IPI|GO:0042289;MHC class II protein binding;NAS|GO:0042609;CD4 receptor binding;IPI|GO:0042658;MHC class II protein binding, via antigen binding groove;IDA|GO:0042802;identical protein binding;TAS|GO:0044183;protein binding involved in protein folding;IDA|GO:0050998;nitric-oxide synthase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD74 https://www.uniprot.org/uniprot/P04233 https://www.ncbi.nlm.nih.gov/omim/?term=142790 http://www.informatics.jax.org/searchtool/Search.do?query=CD74&submit=Quick%0D%651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD74 rs55796634 0.125399 0.1083 0.0977 1 0 0 UTR5 UTR5 UTR5 CD74(NM_004355:c.-25G>A,NM_001025159:c.-25G>A,NM_001025158:c.-25G>A) CD74(uc003lsc.3:c.-25G>A,uc003lsd.3:c.-25G>A,uc003lse.3:c.-25G>A) ENSG00000019582(ENST00000353334:c.-25G>A) Na Na Na Na Na Na Het;C>T 963;52|46 Ref Hom;C>T 2487;2|94 N N - 5 150516887 150516887 G C snp intronic ANXA6 Anxa6 ENSG00000197043 annexin A6 chr5:150480273-150537443 Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] Femur Head Necrosis| Mice homozygous for a knock-out allele have normal immunological development but exhibit altered cardiomyocyte mechanics and intracellular calcium signaling. Smooth Muscle Contraction GO:0006816;calcium ion transport;IEA|GO:0006937;regulation of muscle contraction;IEA|GO:0034220;ion transmembrane transport;IMP|GO:0051260;protein homooligomerization;IMP|GO:0051560;mitochondrial calcium ion homeostasis;IEA|GO:0097190;apoptotic signaling pathway;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0031902;late endosome membrane;IDA|GO:0042470;melanosome;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IMP|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0008289;lipid binding;IMP|GO:0015276;ligand-gated ion channel activity;IMP|GO:0015485;cholesterol binding;IDA|GO:0042803;protein homodimerization activity;IMP|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANXA6 https://www.ncbi.nlm.nih.gov/omim/?term=114070 http://www.informatics.jax.org/searchtool/Search.do?query=ANXA6&submit=Quick%0D%16526ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA6 rs2303034 0.725839 0.6529 0.7023 1 0 0 intronic intronic intronic ANXA6 ANXA6 ENSG00000197043 Na Na Na Na Na Na Het;G>C 266;19|13 Ref Hom;G>C 1274;0|47 N N - 5 150758128 150758128 G A snp ncRNA_exonic AC034205.1 rs13354553 0.587859 0 0 1 0 0 intergenic intergenic ncRNA_exonic SLC36A2(dist=30977),SLC36A1(dist=69035) SLC36A2(dist=30977),SLC36A1(dist=58425) ENSG00000253472 Na Na Na Na Na Na Het;G>A 40;2|2 Ref Hom;G>A 110;0|5 N N - 5 150886616 150886616 G A snp intronic FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs7723079 0.830471 0 0 1 0 0 intronic intronic intronic FAT2 FAT2 ENSG00000086570 Na Na Na Na Na Na Het;G>A 187;10|7 Ref Hom;G>A 198;0|6 N N - 5 150886882 150886882 G A snp nonsynonymous SNV C12350T P4117L hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs1105168 0.776957 0.6536 0.6643 0.08 1 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon22:c.C12350T:p.P4117L, FAT2:uc003lue.4:exon22:c.C12350T:p.P4117L,FAT2:uc003lud.4:exon10:c.C2171T:p.P724L, UNKNOWN Het;G>A 2499;139|115 Het;G>A 1958;126|89 Hom;G>A 5244;0|179 N N - 5 150889805 150889805 A T snp ncRNA_exonic AC011337.1 rs6870300 0.554513 0 0 1 0 0 intronic intronic ncRNA_exonic FAT2 FAT2 ENSG00000271795 Na Na Na Na Na Na Het;A>T 540;18|20 Het;A>T 420;7|18 Hom;A>T 720;0|28 N N - 5 150891663 150891663 T C snp ncRNA_exonic AC011337.1 rs6862750 0.798722 0 0 1 0 0 intronic intronic ncRNA_exonic FAT2 FAT2 ENSG00000271795 Na Na Na Na Na Na Het;T>C 245;16|9 Het;T>C 188;16|7 Hom;T>C 757;0|22 N N - 5 150891733 150891733 A G snp synonymous SNV T11898C H3966H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs2304028 0.799521 0.7078 0.7717 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon20:c.T11898C:p.H3966H, FAT2:uc003lue.4:exon20:c.T11898C:p.H3966H,FAT2:uc003lud.4:exon8:c.T1719C:p.H573H, UNKNOWN Het;A>G 640;40|29 Het;A>G 835;36|36 Hom;A>G 1922;0|65 N N - 5 150901111 150901111 A G snp synonymous SNV T11043C D3681D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3822699 0.779553 0.6961 0.7657 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon18:c.T11043C:p.D3681D, FAT2:uc003lue.4:exon18:c.T11043C:p.D3681D,FAT2:uc003lud.4:exon6:c.T1122C:p.D374D, UNKNOWN Het;A>G 2605;82|111 Het;A>G 2151;110|97 Hom;A>G 6350;0|224 N N - 5 150901261 150901261 C T snp nonsynonymous SNV G10893A M3631I hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs6650971 0.76897 0.6837 0.7625 0.15 2 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon18:c.G10893A:p.M3631I, FAT2:uc003lue.4:exon18:c.G10893A:p.M3631I,FAT2:uc003lud.4:exon6:c.G972A:p.M324I, UNKNOWN Het;C>T 2560;123|114 Het;C>T 2439;100|114 Hom;C>T 5983;0|212 N N - 5 150901300 150901300 G A snp synonymous SNV C10854T Y3618Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3734046 0.764577 0.6808 0.7617 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon18:c.C10854T:p.Y3618Y, FAT2:uc003lue.4:exon18:c.C10854T:p.Y3618Y,FAT2:uc003lud.4:exon6:c.C933T:p.Y311Y, UNKNOWN Het;G>A 2960;132|136 Het;G>A 2523;129|120 Hom;G>A 7283;0|270 N N - 5 150901613 150901613 A G snp nonsynonymous SNV T10541C L3514S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs2053028 0.775759 0.6900 0.7660 0.08 1 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon18:c.T10541C:p.L3514S, FAT2:uc003lue.4:exon18:c.T10541C:p.L3514S,FAT2:uc003lud.4:exon6:c.T620C:p.L207S, UNKNOWN Het;A>G 1928;56|78 Het;A>G 2078;62|91 Hom;A>G 4370;0|155 N N - 5 150914184 150914184 A T snp synonymous SNV T9213A T3071T polar,hydrophilic,neutral polar,hydrophilic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs1432643 0.632788 0.5217 0.5901 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon12:c.T9213A:p.T3071T, FAT2:uc003lue.4:exon12:c.T9213A:p.T3071T, UNKNOWN Het;A>T 938;70|45 Het;A>T 676;60|37 Hom;A>T 2976;0|113 N N - 5 150942774 150942774 A G snp intronic FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs10069901 0.411142 0 0 1 0 0 intronic intronic intronic FAT2 FAT2 ENSG00000086570 Na Na Na Na Na Na Het;A>G 88;6|4 Ref Hom;A>G 237;0|8 N N - 5 150942969 150942969 G A snp nonsynonymous SNV C3491T P1164L hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs2304053 0.363618 0.4522 0.4447 0.31 4 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon2:c.C3491T:p.P1164L, FAT2:uc003lue.4:exon2:c.C3491T:p.P1164L,FAT2:uc010jhx.1:exon2:c.C3491T:p.P1164L, UNKNOWN Het;G>A 1530;70|67 Ref Hom;G>A 3763;0|136 N N - 5 150943085 150943085 G A snp synonymous SNV C3375T I1125I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs2304054 0.411342 0.4882 0.4657 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon2:c.C3375T:p.I1125I, FAT2:uc003lue.4:exon2:c.C3375T:p.I1125I,FAT2:uc010jhx.1:exon2:c.C3375T:p.I1125I, UNKNOWN Het;G>A 1660;85|73 Ref Hom;G>A 4144;2|153 N N - 5 150945483 150945483 C T snp nonsynonymous SNV G3010A G1004S aliphatic,neutral polar,hydrophilic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3734055 0.402556 0.4774 0.4622 0.15 2 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon1:c.G3010A:p.G1004S, FAT2:uc003lue.4:exon1:c.G3010A:p.G1004S,FAT2:uc010jhx.1:exon1:c.G3010A:p.G1004S, UNKNOWN Het;C>T 1565;82|65 Ref Hom;C>T 3978;0|140 N N - 5 150945699 150945699 G A snp synonymous SNV C2794T L932L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs10085060 0.419728 0.4965 0.4674 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon1:c.C2794T:p.L932L, FAT2:uc003lue.4:exon1:c.C2794T:p.L932L,FAT2:uc010jhx.1:exon1:c.C2794T:p.L932L, UNKNOWN Het;G>A 1409;65|64 Ref Hom;G>A 3443;0|125 N N - 5 150945862 150945862 A G snp synonymous SNV T2631C V877V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3734057 0.419728 0.4966 0.4678 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon1:c.T2631C:p.V877V, FAT2:uc003lue.4:exon1:c.T2631C:p.V877V,FAT2:uc010jhx.1:exon1:c.T2631C:p.V877V, UNKNOWN Het;A>G 1807;59|69 Ref Hom;A>G 2553;0|84 N N - 5 150945931 150945931 C T snp synonymous SNV G2562A R854R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3734058 0.419529 0.4964 0.4679 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon1:c.G2562A:p.R854R, FAT2:uc003lue.4:exon1:c.G2562A:p.R854R,FAT2:uc010jhx.1:exon1:c.G2562A:p.R854R, UNKNOWN Het;C>T 1708;75|72 Ref Hom;C>T 3424;1|121 N N - 5 150946132 150946132 G A snp synonymous SNV C2361T I787I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3734059 0.419529 0.4965 0.4678 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon1:c.C2361T:p.I787I, FAT2:uc003lue.4:exon1:c.C2361T:p.I787I,FAT2:uc010jhx.1:exon1:c.C2361T:p.I787I, UNKNOWN Het;G>A 2971;112|123 Ref Hom;G>A 5629;0|204 N N - 5 150946436 150946436 A G snp nonsynonymous SNV T2057C F686S aromatic,hydrophobic,neutral polar,hydrophilic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs9324700 0.419928 0.4973 0.4679 0.23 3 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon1:c.T2057C:p.F686S, FAT2:uc003lue.4:exon1:c.T2057C:p.F686S,FAT2:uc010jhx.1:exon1:c.T2057C:p.F686S, UNKNOWN Het;A>G 2046;77|76 Ref Hom;A>G 3323;3|115 N N - 5 150946773 150946773 G A snp nonsynonymous SNV C1720T R574C polar,hydrophilic,charged(+) polar,hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs1432862 0.417931 0.4949 0.4673 0.62 8 13 exonic exonic exonic FAT2 FAT2 ENSG00000086570 nonsynonymous SNV nonsynonymous SNV unknown FAT2:NM_001447:exon1:c.C1720T:p.R574C, FAT2:uc003lue.4:exon1:c.C1720T:p.R574C,FAT2:uc010jhx.1:exon1:c.C1720T:p.R574C, UNKNOWN Het;G>A 1257;64|53 Ref Hom;G>A 3036;0|108 N N - 5 150946966 150946966 G A snp synonymous SNV C1527T P509P hydrophobic,neutral hydrophobic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs1465690 0.86881 0.9210 0.8864 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon1:c.C1527T:p.P509P, FAT2:uc003lue.4:exon1:c.C1527T:p.P509P,FAT2:uc010jhx.1:exon1:c.C1527T:p.P509P, UNKNOWN Het;G>A 1446;81|62 Het;G>A 1629;66|71 Hom;G>A 3890;2|146 N N - 5 150947719 150947719 C T snp synonymous SNV G774A S258S polar,hydrophilic,neutral polar,hydrophilic,neutral FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs3734060 0 0.4961 0.4683 1 0 0 exonic exonic exonic FAT2 FAT2 ENSG00000086570 synonymous SNV synonymous SNV unknown FAT2:NM_001447:exon1:c.G774A:p.S258S, FAT2:uc003lue.4:exon1:c.G774A:p.S258S,FAT2:uc010jhx.1:exon1:c.G774A:p.S258S, UNKNOWN Het;C>T 2114;69|84 Ref Hom;C>T 3994;0|138 N N - 5 150948537 150948537 T C snp upstream FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs1469680 0.86901 0.9240 0.8851 1 0 0 upstream upstream upstream FAT2 FAT2 ENSG00000086570 Na Na Na Na Na Na Het;T>C 461;16|18 Het;T>C 398;17|17 Hom;T>C 982;0|33 N N - 5 150961495 150961495 C T snp intergenic FAT2 Fat2 ENSG00000086570 FAT atypical cadherin 2 chr5:150883654-150948505 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele are healthy, fertile and overtly normal, with no apparent defects in the development of red blood cells or platelets. GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0010631;epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAT2 https://www.uniprot.org/uniprot/Q9NYQ8 https://hpo.jax.org/app/browse/search?q=FAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604269 http://www.informatics.jax.org/searchtool/Search.do?query=FAT2&submit=Quick%0D%1929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAT2 rs6879740 0.347843 0 0 1 0 0 intergenic intergenic intergenic FAT2(dist=12990),SPARC(dist=79162) FAT2(dist=12990),BC034636(dist=70345) ENSG00000086570(dist=12990),ENSG00000260581(dist=70341) Na Na Na Na Na Na Het;C>T 40;5|3 Ref Hom;C>T 71;0|4 N N - 5 1522486 1522486 T G snp intronic LPCAT1 Lpcat1 ENSG00000275079 lysophosphatidylcholine acyltransferase 1 chr5:1456595-1524092 This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016] Forced Expiratory Volume; Alcoholism; Myocardial Infarction Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. GO:0008152;metabolic process;IEA GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1 https://www.ncbi.nlm.nih.gov/omim/?term=610472 http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1 rs73735514 0.15635 0 0 1 0 0 intronic intronic intronic LPCAT1 LPCAT1 ENSG00000153395 Na Na Na Na Na Na Het;T>G 44;4|2 Ref Hom;T>G 141;0|4 N N - 5 1522489 1522489 C T snp intronic LPCAT1 Lpcat1 ENSG00000275079 lysophosphatidylcholine acyltransferase 1 chr5:1456595-1524092 This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016] Forced Expiratory Volume; Alcoholism; Myocardial Infarction Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. GO:0008152;metabolic process;IEA GO:0005509;calcium ion binding;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPCAT1 https://www.ncbi.nlm.nih.gov/omim/?term=610472 http://www.informatics.jax.org/searchtool/Search.do?query=LPCAT1&submit=Quick%0D%21271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPCAT1 rs73735515 0.15655 0 0 1 0 0 intronic intronic intronic LPCAT1 LPCAT1 ENSG00000153395 Na Na Na Na Na Na Het;C>T 44;3|2 Ref Hom;C>T 141;0|4 N N - 5 153372525 153372525 G A snp UTR3 *11C>T FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs1057772 0.666933 0.5894 0.6553 1 0 0 UTR3 UTR3 UTR3 FAM114A2(NM_018691:c.*11C>T) FAM114A2(uc003lvb.3:c.*11C>T,uc003lvc.3:c.*11C>T,uc003lvd.3:c.*11C>T,uc003lve.3:c.*11C>T,uc011dda.2:c.*11C>T) ENSG00000055147(ENST00000351797:c.*11C>T,ENST00000522858:c.*11C>T,ENST00000520667:c.*11C>T,ENST00000520313:c.*11C>T) Na Na Na Na Na Na Het;G>A 693;19|28 Ref Hom;G>A 1966;0|76 N N - 5 153372743 153372743 G A snp intronic FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs6866471 0.716653 0 0 1 0 0 intronic intronic intronic FAM114A2 FAM114A2 ENSG00000055147 Na Na Na Na Na Na Het;G>A 158;4|6 Ref Hom;G>A 409;0|13 N N - 5 153382072 153382075 GTCT G indel intronic FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs35082504 0.668131 0 0 1 0 0 intronic intronic intronic FAM114A2 FAM114A2 ENSG00000055147 Na Na Na Na Na Na Het;-TCT 80;3|3 Ref Hom;-TCT 278;0|7 N N - 5 153382124 153382124 T C snp intronic FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs2560060 0.666733 0 0 1 0 0 intronic intronic intronic FAM114A2 FAM114A2 ENSG00000055147 Na Na Na Na Na Na Het;T>C 82;3|4 Ref Hom;T>C 139;0|4 N N - 5 153406644 153406644 C T snp intronic FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs9324765 0.715855 0 0 1 0 0 intronic intronic intronic FAM114A2 FAM114A2 ENSG00000055147 Na Na Na Na Na Na Het;C>T 193;10|8 Ref Hom;C>T 618;0|17 N N - 5 153406987 153406987 G C snp intronic FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs6889563 0.716254 0 0 1 0 0 intronic intronic intronic FAM114A2 FAM114A2 ENSG00000055147 Na Na Na Na Na Na Het;G>C 239;13|8 Ref Hom;G>C 751;0|22 N N - 5 153413390 153413390 C T snp nonsynonymous SNV G364A G122S aliphatic,neutral polar,hydrophilic,neutral FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs2578377 0.716254 0.6318 0.6749 0.23 3 13 exonic exonic exonic FAM114A2 FAM114A2 ENSG00000055147 nonsynonymous SNV nonsynonymous SNV unknown FAM114A2:NM_018691:exon4:c.G364A:p.G122S, FAM114A2:uc003lvd.3:exon5:c.G364A:p.G122S,FAM114A2:uc003lvb.3:exon4:c.G364A:p.G122S,FAM114A2:uc003lvc.3:exon4:c.G364A:p.G122S,FAM114A2:uc011dda.2:exon3:c.G154A:p.G52S, UNKNOWN Het;C>T 342;37|18 Ref Hom;C>T 1874;2|75 N N - 5 153414545 153414545 C CA indel intronic FAM114A2 Fam114a2 ENSG00000055147 family with sequence similarity 114 member A2 chr5:153369688-153418496 Signaling by BRAF and RAF fusions GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0017076;purine nucleotide binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/FAM114A2 https://www.uniprot.org/uniprot/Q9NRY5 http://www.informatics.jax.org/searchtool/Search.do?query=FAM114A2&submit=Quick%0D%992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM114A2 rs34907432 0.600639 0.0413 0.6453 1 0 0 intronic intronic intronic FAM114A2 FAM114A2 ENSG00000055147 Na Na Na Na Na Na Het;+A 161;20|10 Ref Hom;+A 641;2|26 N N - 5 153429169 153429169 A G snp UTR5 -114A>G MFAP3 Mfap3 ENSG00000037749 microfibril associated protein 3 chr5:153418466-153600038 Type 2 Diabetes| edema | rosiglitazone; Body Mass Index Molecules associated with elastic fibres GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFAP3 https://www.uniprot.org/uniprot/P55082 https://www.ncbi.nlm.nih.gov/omim/?term=600491 http://www.informatics.jax.org/searchtool/Search.do?query=MFAP3&submit=Quick%0D%792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP3 rs478020 0.618411 0 0 1 0 0 UTR5 UTR5 UTR5 MFAP3(NM_001242336:c.-114A>G,NM_005927:c.-114A>G) MFAP3(uc003lvf.2:c.-114A>G,uc010jib.2:c.-114A>G) ENSG00000037749(ENST00000522782:c.-114A>G,ENST00000436816:c.-114A>G,ENST00000322602:c.-114A>G,ENST00000522177:c.-114A>G,ENST00000520899:c.-114A>G) Na Na Na Na Na Na Het;A>G 81;4|3 Ref Hom;A>G 139;0|4 N N - 5 153429187 153429187 T A snp UTR5 -96T>A MFAP3 Mfap3 ENSG00000037749 microfibril associated protein 3 chr5:153418466-153600038 Type 2 Diabetes| edema | rosiglitazone; Body Mass Index Molecules associated with elastic fibres GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFAP3 https://www.uniprot.org/uniprot/P55082 https://www.ncbi.nlm.nih.gov/omim/?term=600491 http://www.informatics.jax.org/searchtool/Search.do?query=MFAP3&submit=Quick%0D%792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP3 rs689715 0.667532 0 0 1 0 0 UTR5 UTR5 UTR5 MFAP3(NM_001242336:c.-96T>A,NM_005927:c.-96T>A) MFAP3(uc003lvf.2:c.-96T>A,uc010jib.2:c.-96T>A) ENSG00000037749(ENST00000522782:c.-96T>A,ENST00000436816:c.-96T>A,ENST00000322602:c.-96T>A,ENST00000522177:c.-96T>A,ENST00000520899:c.-96T>A) Na Na Na Na Na Na Het;T>A 100;4|4 Ref Hom;T>A 120;0|4 N N - 5 153429459 153429459 T C snp synonymous SNV T177C D59D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MFAP3 Mfap3 ENSG00000037749 microfibril associated protein 3 chr5:153418466-153600038 Type 2 Diabetes| edema | rosiglitazone; Body Mass Index Molecules associated with elastic fibres GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFAP3 https://www.uniprot.org/uniprot/P55082 https://www.ncbi.nlm.nih.gov/omim/?term=600491 http://www.informatics.jax.org/searchtool/Search.do?query=MFAP3&submit=Quick%0D%792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP3 rs690592 0.715056 0.6309 0.6743 1 0 0 exonic exonic exonic MFAP3 MFAP3 ENSG00000037749 synonymous SNV synonymous SNV unknown MFAP3:NM_005927:exon2:c.T177C:p.D59D,MFAP3:NM_001242336:exon2:c.T177C:p.D59D, MFAP3:uc010jib.2:exon2:c.T177C:p.D59D,MFAP3:uc003lvf.2:exon2:c.T177C:p.D59D, UNKNOWN Het;T>C 884;41|43 Ref Hom;T>C 3504;4|129 N N - 5 153432450 153432450 A AT indel intronic MFAP3 Mfap3 ENSG00000037749 microfibril associated protein 3 chr5:153418466-153600038 Type 2 Diabetes| edema | rosiglitazone; Body Mass Index Molecules associated with elastic fibres GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFAP3 https://www.uniprot.org/uniprot/P55082 https://www.ncbi.nlm.nih.gov/omim/?term=600491 http://www.informatics.jax.org/searchtool/Search.do?query=MFAP3&submit=Quick%0D%792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP3 rs11451300 0.701478 0.6269 0.6700 1 0 0 intronic intronic intronic MFAP3 MFAP3 ENSG00000037749 Na Na Na Na Na Na Het;+T 104;17|8 Ref Hom;+T 959;1|37 N N - 5 153432733 153432733 T C snp synonymous SNV T111C A37A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MFAP3 Mfap3 ENSG00000037749 microfibril associated protein 3 chr5:153418466-153600038 Type 2 Diabetes| edema | rosiglitazone; Body Mass Index Molecules associated with elastic fibres GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFAP3 https://www.uniprot.org/uniprot/P55082 https://www.ncbi.nlm.nih.gov/omim/?term=600491 http://www.informatics.jax.org/searchtool/Search.do?query=MFAP3&submit=Quick%0D%792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP3 rs2578386 0.715256 0.6309 0.6745 1 0 0 exonic exonic exonic MFAP3 MFAP3 ENSG00000037749 synonymous SNV synonymous SNV unknown MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_005927:exon3:c.T549C:p.A183A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A, MFAP3:uc010jib.2:exon3:c.T549C:p.A183A,MFAP3:uc003lvf.2:exon3:c.T549C:p.A183A,MFAP3:uc011ddb.1:exon2:c.T111C:p.A37A,MFAP3:uc021ygf.1:exon1:c.T111C:p.A37A, UNKNOWN Het;T>C 1517;66|59 Ref Hom;T>C 4583;0|157 N N - 5 153432970 153432970 C T snp synonymous SNV C348T D116D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MFAP3 Mfap3 ENSG00000037749 microfibril associated protein 3 chr5:153418466-153600038 Type 2 Diabetes| edema | rosiglitazone; Body Mass Index Molecules associated with elastic fibres GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFAP3 https://www.uniprot.org/uniprot/P55082 https://www.ncbi.nlm.nih.gov/omim/?term=600491 http://www.informatics.jax.org/searchtool/Search.do?query=MFAP3&submit=Quick%0D%792ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFAP3 rs2255493 0.715855 0.6311 0.6742 1 0 0 exonic exonic exonic MFAP3 MFAP3 ENSG00000037749 synonymous SNV synonymous SNV unknown MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_005927:exon3:c.C786T:p.D262D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D, MFAP3:uc010jib.2:exon3:c.C786T:p.D262D,MFAP3:uc003lvf.2:exon3:c.C786T:p.D262D,MFAP3:uc011ddb.1:exon2:c.C348T:p.D116D,MFAP3:uc021ygf.1:exon1:c.C348T:p.D116D, UNKNOWN Het;C>T 1169;74|53 Ref Hom;C>T 4311;0|160 N N - 5 153620581 153620581 T G snp intronic GALNT10 Galnt10 ENSG00000164574 polypeptide N-acetylgalactosaminyltransferase 10 chr5:153570290-153800544 This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010] Tobacco Use Disorder Mice homozygous for a disruption in this gene display a normal phenotype. O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT10 https://www.ncbi.nlm.nih.gov/omim/?term=608043 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT10&submit=Quick%0D%11333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT10 rs10059636 0.640974 0 0 1 0 0 intronic intronic intronic GALNT10 GALNT10 ENSG00000164574 Na Na Na Na Na Na Het;T>G 70;8|4 Het;T>G 64;10|4 Hom;T>G 152;0|6 N N - 5 153620638 153620638 T C snp intronic GALNT10 Galnt10 ENSG00000164574 polypeptide N-acetylgalactosaminyltransferase 10 chr5:153570290-153800544 This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010] Tobacco Use Disorder Mice homozygous for a disruption in this gene display a normal phenotype. O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT10 https://www.ncbi.nlm.nih.gov/omim/?term=608043 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT10&submit=Quick%0D%11333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT10 rs1541663 0.641573 0 0 1 0 0 intronic intronic intronic GALNT10 GALNT10 ENSG00000164574 Na Na Na Na Na Na Het;T>C 216;17|12 Het;T>C 225;14|12 Hom;T>C 444;0|19 N N - 5 153825186 153825186 C G snp ncRNA_intronic SAP30L-AS1 rs971922 0.950879 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic SAP30L-AS1 SAP30L-AS1 ENSG00000245275 Na Na Na Na Na Na Het;C>G 386;21|15 Ref Hom;C>G 907;0|27 N N - 5 153830890 153830890 G A snp ncRNA_exonic AF157115 rs2277939 0 0 0 1 0 0 intronic ncRNA_exonic intronic SAP30L AF157115 ENSG00000164576 Na Na Na Na Na Na Het;G>A 52;9|3 Ref Hom;G>A 272;0|8 N N - 5 153835378 153835378 C G snp intronic SAP30L Sap30l ENSG00000164576 SAP30 like chr5:153825517-153840614 Glucose; Dengue Hemorrhagic Fever; Diabetes Mellitus NoRC negatively regulates rRNA expression GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016575;histone deacetylation;IEA GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA GO:0003677;DNA binding;IDA|GO:0003712;transcription cofactor activity;IBA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0008289;lipid binding;IEA|GO:0010314;phosphatidylinositol-5-phosphate binding;IDA|GO:0031491;nucleosome binding;IDA|GO:0042393;histone binding;IDA|GO:0044378;non-sequence-specific DNA binding, bending;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SAP30L https://www.ncbi.nlm.nih.gov/omim/?term=610398 http://www.informatics.jax.org/searchtool/Search.do?query=SAP30L&submit=Quick%0D%11334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAP30L rs1007404 0.243411 0 0 1 0 0 intronic intronic intronic SAP30L SAP30L ENSG00000164576 Na Na Na Na Na Na Het;C>G 224;8|9 Ref Hom;C>G 144;0|5 N N - 5 153837908 153837908 T C snp UTR3 *2320T>C SAP30L Sap30l ENSG00000164576 SAP30 like chr5:153825517-153840614 Glucose; Dengue Hemorrhagic Fever; Diabetes Mellitus NoRC negatively regulates rRNA expression GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016575;histone deacetylation;IEA GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA GO:0003677;DNA binding;IDA|GO:0003712;transcription cofactor activity;IBA|GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0008289;lipid binding;IEA|GO:0010314;phosphatidylinositol-5-phosphate binding;IDA|GO:0031491;nucleosome binding;IDA|GO:0042393;histone binding;IDA|GO:0044378;non-sequence-specific DNA binding, bending;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SAP30L https://www.ncbi.nlm.nih.gov/omim/?term=610398 http://www.informatics.jax.org/searchtool/Search.do?query=SAP30L&submit=Quick%0D%11334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAP30L rs2351482 0 0 0 1 0 0 UTR3 UTR3 UTR3 SAP30L(NM_001131063:c.*2320T>C,NM_001131062:c.*2320T>C,NM_024632:c.*2320T>C) SAP30L(uc003lvk.3:c.*2320T>C,uc011ddc.2:c.*2320T>C,uc011ddd.2:c.*2320T>C) ENSG00000164576(ENST00000297109:c.*2320T>C) Na Na Na Na Na Na Het;T>C 2886;124|122 Ref Hom;T>C 7179;0|254 N N - 5 153856974 153856974 C G snp intronic HAND1 Hand1 ENSG00000113196 heart and neural crest derivatives expressed 1 chr5:153854532-153857824 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008] Behcet Syndrome; Cholesterol; Diabetes Mellitus; Heart Septal Defects; Heart Function Tests; Cholesterol, LDL Homozygotes for targeted null mutations die at embryonic day 8.5-9.5 with yolk sac abnormalities associated with a deficiency of extraembryonic mesoderm and defective trophoblast differentiation. Tetraploid chimeric rescue slightly extends development. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001707;mesoderm formation;IEA|GO:0001824;blastocyst development;IEP|GO:0001829;trophectodermal cell differentiation;IEP|GO:0001947;heart looping;IEA|GO:0003144;embryonic heart tube formation;IEA|GO:0003218;cardiac left ventricle formation;IMP|GO:0003219;cardiac right ventricle formation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IDA|GO:0007275;multicellular organism development;IEA|GO:0007507;heart development;IEA|GO:0030154;cell differentiation;IEA|GO:0035050;embryonic heart tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IMP|GO:0060411;cardiac septum morphogenesis;IMP|GO:0060485;mesenchyme development;IEA|GO:0060536;cartilage morphogenesis;IEA|GO:0060707;trophoblast giant cell differentiation;IEA|GO:0061371;determination of heart left/right asymmetry;IEA|GO:1903026;negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IC|GO:0003714;transcription corepressor activity;IC|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019899;enzyme binding;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;NAS|GO:0043425;bHLH transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAND1 https://www.uniprot.org/uniprot/O96004 https://www.ncbi.nlm.nih.gov/omim/?term=602406 http://www.informatics.jax.org/searchtool/Search.do?query=HAND1&submit=Quick%0D%4327ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAND1 rs1846966 0.305312 0.2813 0 1 0 0 intronic intronic intronic HAND1 HAND1 ENSG00000113196 Na Na Na Na Na Na Het;C>G 869;23|32 Ref Hom;C>G 1415;0|47 N N - 5 153873292 153873292 A G snp ncRNA_exonic AC026688.1 rs10477101 0.694289 0 0 1 0 0 intergenic intergenic ncRNA_exonic HAND1(dist=15468),MIR3141(dist=102280) HAND1(dist=15468),MIR3141(dist=102280) ENSG00000253886 Na Na Na Na Na Na Het;A>G 629;42|25 Ref Hom;A>G 2322;0|84 N N - 5 153873560 153873560 T C snp ncRNA_exonic AC026688.1 rs283438 0.885783 0 0 1 0 0 intergenic intergenic ncRNA_exonic HAND1(dist=15736),MIR3141(dist=102012) HAND1(dist=15736),MIR3141(dist=102012) ENSG00000253886 Na Na Na Na Na Na Het;T>C 587;40|26 Ref Hom;T>C 1414;0|49 N N - 5 153873574 153873574 T G snp ncRNA_exonic AC026688.1 rs283439 0.887181 0 0 1 0 0 intergenic intergenic ncRNA_exonic HAND1(dist=15750),MIR3141(dist=101998) HAND1(dist=15750),MIR3141(dist=101998) ENSG00000253886 Na Na Na Na Na Na Het;T>G 480;32|19 Ref Hom;T>G 1261;0|41 N N - 5 154275962 154275962 G A snp intronic GEMIN5 Gemin5 ENSG00000082516 gem nuclear organelle associated protein 5 chr5:154266976-154317769 This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Respiratory Function Tests; Cholesterol, HDL snRNP Assembly GO:0000387;spliceosomal snRNP assembly;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0006461;protein complex assembly;TAS|GO:0008380;RNA splicing;IEA|GO:0051170;nuclear import;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0032797;SMN complex;IDA|GO:0034718;SMN-Gemin2 complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0097504;Gemini of coiled bodies;IEA GO:0000340;RNA 7-methylguanosine cap binding;IDA|GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0017069;snRNA binding;IDA|GO:0030619;U1 snRNA binding;IDA|GO:0030621;U4 snRNA binding;IDA|GO:0030622;U4atac snRNA binding;IDA|GO:0043022;ribosome binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GEMIN5 https://www.uniprot.org/uniprot/Q8TEQ6 https://www.ncbi.nlm.nih.gov/omim/?term=607005 http://www.informatics.jax.org/searchtool/Search.do?query=GEMIN5&submit=Quick%0D%1807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GEMIN5 rs816747 0.473043 0 0 1 0 0 intronic intronic intronic GEMIN5 GEMIN5 ENSG00000082516 Na Na Na Na Na Na Het;G>A 667;11|25 Ref Hom;G>A 875;0|27 N N - 5 154871750 154871750 G A snp ncRNA_exonic AC008725.1 rs1644568 0.429113 0 0 1 0 0 intergenic intergenic ncRNA_exonic KIF4B(dist=474065),SGCD(dist=882017) KIF4B(dist=474065),SGCD(dist=263313) ENSG00000270442 Na Na Na Na Na Na Het;G>A 55;9|4 Ref Hom;G>A 418;0|16 N N - 5 154872135 154872135 C T snp ncRNA_exonic AC008725.1 rs1644567 0.552716 0 0 1 0 0 intergenic intergenic ncRNA_exonic KIF4B(dist=474450),SGCD(dist=881632) KIF4B(dist=474450),SGCD(dist=262928) ENSG00000270442 Na Na Na Na Na Na Het;C>T 35;8|4 Ref Hom;C>T 843;0|31 N N - 5 154872171 154872175 AAGTT A indel ncRNA_exonic AC008725.1 rs3058451 0.429113 0 0 1 0 0 intergenic intergenic ncRNA_exonic KIF4B(dist=474486),SGCD(dist=881592) KIF4B(dist=474486),SGCD(dist=262888) ENSG00000270442 Na Na Na Na Na Na Het;-AGTT 65;8|3 Ref Hom;-AGTT 1089;0|26 N N - 5 154872210 154872210 T G snp ncRNA_exonic AC008725.1 rs1623346 0.428914 0 0 1 0 0 intergenic intergenic ncRNA_exonic KIF4B(dist=474525),SGCD(dist=881557) KIF4B(dist=474525),SGCD(dist=262853) ENSG00000270442 Na Na Na Na Na Na Het;T>G 76;8|4 Ref Hom;T>G 457;0|17 N N - 5 154945166 154945166 C G snp intergenic KIF4B Kif4 ENSG00000226650 kinesin family member 4B chr5:154393260-154397685 This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016] Creatinine; Stroke; Body Mass Index; Hypertension Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. Kinesins GO:0000281;mitotic cytokinesis;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0051256;mitotic spindle midzone assembly;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0016363;nuclear matrix;IEA|GO:0045171;intercellular bridge;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF4B https://www.ncbi.nlm.nih.gov/omim/?term=609184 http://www.informatics.jax.org/searchtool/Search.do?query=KIF4B&submit=Quick%0D%18702ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF4B rs34741613 0.482628 0 0 1 0 0 intergenic intergenic intergenic KIF4B(dist=547481),SGCD(dist=808601) KIF4B(dist=547481),SGCD(dist=189897) ENSG00000270442(dist=72008),ENSG00000200275(dist=327281) Na Na Na Na Na Na Het;C>G 222;12|12 Ref Hom;C>G 706;2|30 N N - 5 154945303 154945303 G A snp intergenic KIF4B Kif4 ENSG00000226650 kinesin family member 4B chr5:154393260-154397685 This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016] Creatinine; Stroke; Body Mass Index; Hypertension Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. Kinesins GO:0000281;mitotic cytokinesis;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0051256;mitotic spindle midzone assembly;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0016363;nuclear matrix;IEA|GO:0045171;intercellular bridge;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF4B https://www.ncbi.nlm.nih.gov/omim/?term=609184 http://www.informatics.jax.org/searchtool/Search.do?query=KIF4B&submit=Quick%0D%18702ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF4B rs10039342 0.482428 0 0 1 0 0 intergenic intergenic intergenic KIF4B(dist=547618),SGCD(dist=808464) KIF4B(dist=547618),SGCD(dist=189760) ENSG00000270442(dist=72145),ENSG00000200275(dist=327144) Na Na Na Na Na Na Het;G>A 153;10|9 Ref Hom;G>A 521;0|20 N N - 5 155885469 155885469 T C snp ncRNA_exonic AC027308.1 rs11954391 0.554513 0 0 1 0 0 intronic intronic ncRNA_exonic SGCD SGCD ENSG00000253370 Na Na Na Na Na Na Het;T>C 2125;63|93 Ref Hom;T>C 5000;0|186 N N - 5 156381370 156381370 G A snp intronic TIMD4 Timd4 ENSG00000145850 T-cell immunoglobulin and mucin domain containing 4 chr5:156346293-156390266 Asthma|; asthma; dermatitis and eczema; Cholesterol, LDL; Malaria, Cerebral; LDL cholesterol; Dyslipidemias|Syndrome; Triglycerides; Cholesterol Mice homozygous for a knock-out allele exhibit impaired macrophage phagocytosis, altered macrophage physiology, and increased peritoneal lymphoid and meyloid cell numbers. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001786;phosphatidylserine binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIMD4 https://www.uniprot.org/uniprot/Q96H15 https://www.ncbi.nlm.nih.gov/omim/?term=610096 http://www.informatics.jax.org/searchtool/Search.do?query=TIMD4&submit=Quick%0D%8794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMD4 rs7724832 0.721046 0 0 1 0 0 intronic intronic intronic TIMD4 TIMD4 ENSG00000145850 Na Na Na Na Na Na Het;G>A 272;11|11 Het;G>A 296;11|12 Hom;G>A 395;0|13 N N - 5 156479323 156479323 G C snp intronic HAVCR1 ENSG00000113249 hepatitis A virus cellular receptor 1 chr5:156456424-156486130 The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19. [provided by RefSeq, Apr 2015] Hepatitis C|Remission, Spontaneous; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; asthma; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; dermatitis and eczema; atopic asthma; rheumatoid arthritis; respiratory syncytial virus bronchiolitis; Asthma|; multiple sclerosis; Malaria, Cerebral; Hay fever|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal; Asthma|drug therapy|; Type 2 diabetes; LDL cholesterol; Arthritis, Rheumatoid|Autoimmune Diseases|Disease Susceptibility|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity. GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IDA GO:0001618;virus receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HAVCR1 https://www.uniprot.org/uniprot/Q96D42 https://www.ncbi.nlm.nih.gov/omim/?term=606518 http://www.informatics.jax.org/searchtool/Search.do?query=HAVCR1&submit=Quick%0D%4335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAVCR1 rs1553318 0.63139 0.5727 0.6646 1 0 0 intronic intronic intronic HAVCR1 HAVCR1 ENSG00000113249 Na Na Na Na Na Na Het;G>C 995;48|35 Het;G>C 541;26|21 Hom;G>C 1965;0|58 N N - 5 156479557 156479572 GTTGGAACAGTCGTCA G indel nonframeshift substitution 473_488C HAVCR1 ENSG00000113249 hepatitis A virus cellular receptor 1 chr5:156456424-156486130 The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19. [provided by RefSeq, Apr 2015] Hepatitis C|Remission, Spontaneous; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; asthma; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; dermatitis and eczema; atopic asthma; rheumatoid arthritis; respiratory syncytial virus bronchiolitis; Asthma|; multiple sclerosis; Malaria, Cerebral; Hay fever|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal; Asthma|drug therapy|; Type 2 diabetes; LDL cholesterol; Arthritis, Rheumatoid|Autoimmune Diseases|Disease Susceptibility|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity. GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IDA GO:0001618;virus receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HAVCR1 https://www.uniprot.org/uniprot/Q96D42 https://www.ncbi.nlm.nih.gov/omim/?term=606518 http://www.informatics.jax.org/searchtool/Search.do?query=HAVCR1&submit=Quick%0D%4335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAVCR1 rs141023871 0.582268 0.5725 0.6313 1 0 0 exonic exonic exonic HAVCR1 HAVCR1 ENSG00000113249 nonframeshift substitution nonframeshift substitution unknown HAVCR1:NM_001173393:exon4:c.473_488C,HAVCR1:NM_001099414:exon4:c.473_488C,HAVCR1:NM_012206:exon3:c.473_488C, HAVCR1:uc021ygj.1:exon4:c.473_488C,HAVCR1:uc010jij.1:exon4:c.473_488C,HAVCR1:uc011ddm.2:exon4:c.473_488C,HAVCR1:uc003lwi.2:exon3:c.473_488C, UNKNOWN Het;-TTGGAACAGTCGTCA 8553;298|233 Het;-TTGGAACAGTCGTCA 7518;244|205 Hom;-TTGGAACAGTCGTCA 21979;4|509 N N - 5 156482669 156482669 G A snp intronic HAVCR1 ENSG00000113249 hepatitis A virus cellular receptor 1 chr5:156456424-156486130 The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 12 and 19. [provided by RefSeq, Apr 2015] Hepatitis C|Remission, Spontaneous; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; asthma; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; dermatitis and eczema; atopic asthma; rheumatoid arthritis; respiratory syncytial virus bronchiolitis; Asthma|; multiple sclerosis; Malaria, Cerebral; Hay fever|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal; Asthma|drug therapy|; Type 2 diabetes; LDL cholesterol; Arthritis, Rheumatoid|Autoimmune Diseases|Disease Susceptibility|Lupus Erythematosus, Systemic|Rheumatoid Arthritis|Systemic lupus erythematosus; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit normal response to S. mansoni egg challenge. Mice homozygous for an allele lacking the mucin domain display impaired regulatory B cell function and systemic autoimmunity. GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IDA GO:0001618;virus receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HAVCR1 https://www.uniprot.org/uniprot/Q96D42 https://www.ncbi.nlm.nih.gov/omim/?term=606518 http://www.informatics.jax.org/searchtool/Search.do?query=HAVCR1&submit=Quick%0D%4335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAVCR1 rs870581 0.369808 0 0 1 0 0 intronic intronic intronic HAVCR1 HAVCR1 ENSG00000113249 Na Na Na Na Na Na Het;G>A 104;6|4 Ref Hom;G>A 170;0|5 N N - 5 156565612 156565612 T C snp UTR3 *129A>G MED7 Med7 ENSG00000155868 mediator complex subunit 7 chr5:156564423-156586030 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019827;stem cell population maintenance;IEA GO:0000151;ubiquitin ligase complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0016592;mediator complex;IEA|GO:0016604;nuclear body;IDA GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MED7 https://www.uniprot.org/uniprot/O43513 https://www.ncbi.nlm.nih.gov/omim/?term=605045 http://www.informatics.jax.org/searchtool/Search.do?query=MED7&submit=Quick%0D%9907ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED7 rs9007 0.120607 0 0 1 0 0 UTR3 UTR3 UTR3 MED7(NM_004270:c.*129A>G,NM_001100816:c.*129A>G) MED7(uc010jik.3:c.*129A>G,uc003lwm.4:c.*129A>G) ENSG00000155868(ENST00000286317:c.*129A>G,ENST00000420343:c.*129A>G) Na Na Na Na Na Na Het;T>C 116;6|5 Het;T>C 44;2|2 Hom;T>C 217;0|6 N N - 5 156566600 156566604 CATTT C indel intronic MED7 Med7 ENSG00000155868 mediator complex subunit 7 chr5:156564423-156586030 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019827;stem cell population maintenance;IEA GO:0000151;ubiquitin ligase complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0016592;mediator complex;IEA|GO:0016604;nuclear body;IDA GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MED7 https://www.uniprot.org/uniprot/O43513 https://www.ncbi.nlm.nih.gov/omim/?term=605045 http://www.informatics.jax.org/searchtool/Search.do?query=MED7&submit=Quick%0D%9907ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED7 rs60128060 0.120607 0 0 1 0 0 intronic intronic intronic MED7 MED7 ENSG00000135077,ENSG00000155868 Na Na Na Na Na Na Het;-ATTT 314;9|9 Het;-ATTT 122;3|4 Hom;-ATTT 348;0|9 N N - 5 156589399 156589399 G T snp UTR3 *59C>A FAM71B Fam71b ENSG00000170613 family with sequence similarity 71 member B chr5:156588857-156593275 Iron GO:0005634;nucleus;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAM71B http://www.informatics.jax.org/searchtool/Search.do?query=FAM71B&submit=Quick%0D%12746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM71B rs2278385 0.127596 0 0 1 0 0 UTR3 UTR3 UTR3 FAM71B(NM_130899:c.*59C>A) FAM71B(uc003lwn.3:c.*59C>A) ENSG00000170613(ENST00000302938:c.*59C>A) Na Na Na Na Na Na Het;G>T 186;9|7 Het;G>T 203;3|7 Hom;G>T 120;0|4 N N - 5 156803499 156803499 A G snp ncRNA_exonic AC008676.1 rs10035272 0.329073 0 0 1 0 0 intronic intronic ncRNA_exonic CYFIP2 CYFIP2 ENSG00000248544 Na Na Na Na Na Na Het;A>G 1049;50|48 Ref Hom;A>G 1952;0|71 N N - 5 156901324 156901324 T C snp UTR3 *1356T>C NIPAL4 Nipal4 ENSG00000172548 NIPA like domain containing 4 chr5:156887027-156901725 This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010] Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Heart Failure Mice homozygous for a knock-out allele exhibit complete neonatal lethality, impaired skin barrier function, weight loss, abnormal skin appearance, hyperkeratosis, impaired formation of lipid lamellae and keratohyalin granules, and altered epidermal ceramide composition. Miscellaneous transport and binding events GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015693;magnesium ion transport;IBA|GO:1903830;magnesium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015095;magnesium ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NIPAL4 https://hpo.jax.org/app/browse/search?q=NIPAL4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609383 http://www.informatics.jax.org/searchtool/Search.do?query=NIPAL4&submit=Quick%0D%13188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPAL4 rs6556051 0.906949 0 0 1 0 0 UTR3 UTR3 UTR3 NIPAL4(NM_001099287:c.*1356T>C,NM_001172292:c.*1356T>C) NIPAL4(uc003lwx.4:c.*1356T>C,uc011ddq.2:c.*1356T>C) ENSG00000172548(ENST00000311946:c.*1356T>C) Na Na Na Na Na Na Het;T>C 232;23|12 Ref Hom;T>C 1325;0|45 N N - 5 156915133 156915133 G A snp intronic ADAM19 Adam19 ENSG00000135074 ADAM metallopeptidase domain 19 chr5:156822542-157002783 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] Meningeal Neoplasms|meningioma; Fractures, Bone|Wounds and Injuries; Respiratory Function Tests; Mental Disorders; Tunica Media; pulmonary function; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Heart Failure; Lung Diseases; Bipolar Disorder; Potassium Homozygous null mice exhibit cardiac developmental defects and die perinatally. Invadopodia formation GO:0006508;proteolysis;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0007507;heart development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAM19 https://www.uniprot.org/uniprot/Q9H013 https://www.ncbi.nlm.nih.gov/omim/?term=603640 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM19&submit=Quick%0D%7080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM19 rs11466805 0.0547125 0 0 1 0 0 intronic intronic intronic ADAM19 ADAM19 ENSG00000135074 Na Na Na Na Na Na Het;G>A 31;4|2 Ref Hom;G>A 126;0|4 N N - 5 156957741 156957741 C T snp intronic ADAM19 Adam19 ENSG00000135074 ADAM metallopeptidase domain 19 chr5:156822542-157002783 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] Meningeal Neoplasms|meningioma; Fractures, Bone|Wounds and Injuries; Respiratory Function Tests; Mental Disorders; Tunica Media; pulmonary function; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Heart Failure; Lung Diseases; Bipolar Disorder; Potassium Homozygous null mice exhibit cardiac developmental defects and die perinatally. Invadopodia formation GO:0006508;proteolysis;IEA|GO:0006509;membrane protein ectodomain proteolysis;IEA|GO:0007507;heart development;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAM19 https://www.uniprot.org/uniprot/Q9H013 https://www.ncbi.nlm.nih.gov/omim/?term=603640 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM19&submit=Quick%0D%7080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM19 rs3822696 0.521166 0 0 1 0 0 intronic intronic intronic ADAM19 ADAM19 ENSG00000135074 Na Na Na Na Na Na Het;C>T 242;9|8 Ref Hom;C>T 503;0|14 N N - 5 157166598 157166598 C T snp UTR3 *108C>T THG1L Thg1l ENSG00000113272 tRNA-histidine guanylyltransferase 1 like chr5:157158205-157168456 The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Acquired Immunodeficiency Syndrome|Disease Progression tRNA modification in the nucleus and cytosol GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IDA|GO:0051289;protein homotetramerization;IPI GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS GO:0000049;tRNA binding;TAS|GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0008193;tRNA guanylyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;EXP|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THG1L https://www.uniprot.org/uniprot/Q9NWX6 http://www.informatics.jax.org/searchtool/Search.do?query=THG1L&submit=Quick%0D%4339ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THG1L rs3194515 0.391573 0 0 1 0 0 UTR3 UTR3 UTR3 THG1L(NM_017872:c.*108C>T) THG1L(uc003lxd.3:c.*108C>T,uc011ddu.2:c.*108C>T) ENSG00000113272(ENST00000231198:c.*108C>T,ENST00000523575:c.*365C>T) Na Na Na Na Na Na Het;C>T 176;5|6 Ref Hom;C>T 194;0|6 N N - 5 157178238 157178238 C T snp intronic LSM11 Lsm11 ENSG00000155858 LSM11, U7 small nuclear RNA associated chr5:157170703-157187717 Myocardial Infarction SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006398;mRNA 3'-end processing by stem-loop binding and cleavage;IEA|GO:0008334;histone mRNA metabolic process;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005683;U7 snRNP;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0016604;nuclear body;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071204;histone pre-mRNA 3'end processing complex;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0071209;U7 snRNA binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LSM11 https://www.uniprot.org/uniprot/P83369 http://www.informatics.jax.org/searchtool/Search.do?query=LSM11&submit=Quick%0D%9906ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM11 rs11952044 0.395966 0 0 1 0 0 intronic intronic intronic LSM11 LSM11 ENSG00000155858 Na Na Na Na Na Na Het;C>T 40;3|2 Ref Hom;C>T 173;0|5 N N - 5 157180959 157180962 AAAT A indel intronic LSM11 Lsm11 ENSG00000155858 LSM11, U7 small nuclear RNA associated chr5:157170703-157187717 Myocardial Infarction SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006398;mRNA 3'-end processing by stem-loop binding and cleavage;IEA|GO:0008334;histone mRNA metabolic process;TAS|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005683;U7 snRNP;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0016604;nuclear body;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071204;histone pre-mRNA 3'end processing complex;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0071209;U7 snRNA binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LSM11 https://www.uniprot.org/uniprot/P83369 http://www.informatics.jax.org/searchtool/Search.do?query=LSM11&submit=Quick%0D%9906ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSM11 rs141155397 0.395567 0.3381 0 1 0 0 intronic intronic intronic LSM11 LSM11 ENSG00000155858 Na Na Na Na Na Na Het;-AAT 885;20|24 Ref Hom;-AAT 1313;0|30 N N - 5 157750669 157750669 A T snp ncRNA_intronic LOC101927697 rs6879366 0.375 0 0 1 0 0 ncRNA_intronic intergenic intergenic LOC101927697 Mir_384(dist=434433),Mir_186(dist=355049) ENSG00000253134(dist=44848),ENSG00000254350(dist=100924) Na Na Na Na Na Na Het;A>T 386;2|14 Het;A>T 456;6|19 Hom;A>T 658;0|22 N N - 5 157796317 157796317 A G snp ncRNA_exonic LOC101927697 rs13160298 0.210064 0 0 1 0 0 ncRNA_exonic intergenic intergenic LOC101927697 Mir_384(dist=480081),Mir_186(dist=309401) ENSG00000253134(dist=90496),ENSG00000254350(dist=55276) Na Na Na Na Na Na Het;A>G 990;45|45 Ref Hom;A>G 2450;2|95 N N - 5 158522577 158522577 C A snp intronic EBF1 Ebf1 ENSG00000164330 early B-cell factor 1 chr5:158122928-158526769 Glucose; Erythrocyte Count; Tobacco Use Disorder; multiple sclerosis; Coronary Artery Disease; Cardiomegaly; Body Fat Distribution; Stroke; Varicose Veins; Heart Rate Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age. Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EBF1 https://www.ncbi.nlm.nih.gov/omim/?term=164343 http://www.informatics.jax.org/searchtool/Search.do?query=EBF1&submit=Quick%0D%11282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EBF1 rs12659540 0.451877 0.4391 0.5009 1 0 0 intronic intronic intronic EBF1 EBF1 ENSG00000164330 Na Na Na Na Na Na Het;C>A 621;13|25 Ref Hom;C>A 806;0|26 N N - 5 158542765 158542765 T C snp ncRNA_exonic LOC101927740 rs10077756 0.550319 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101927740 AK123543 ENSG00000245812 Na Na Na Na Na Na Het;T>C 1189;60|51 Ref Hom;T>C 2800;0|91 N N - 5 158705370 158705370 A G snp intronic UBLCP1 Ublcp1 ENSG00000164332 ubiquitin like domain containing CTD phosphatase 1 chr5:158690089-158713044 Platelet Aggregation; Carotid Stenosis; Chronic renal failure|Kidney Failure, Chronic; Psoriasis GO:0006470;protein dephosphorylation;IDA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UBLCP1 https://www.ncbi.nlm.nih.gov/omim/?term=609867 http://www.informatics.jax.org/searchtool/Search.do?query=UBLCP1&submit=Quick%0D%11284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBLCP1 rs12520035 0.0902556 0.0987 0.1003 1 0 0 intronic intronic intronic UBLCP1 UBLCP1 ENSG00000164332 Na Na Na Na Na Na Het;A>G 959;67|45 Ref Hom;A>G 2496;4|95 N N - 5 158742207 158742208 AT A indel UTR3 *902_*901delinsT IL12B Il12b ENSG00000113302 interleukin 12B chr5:158741791-158757895 This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008] lymphoma; Adamantiades-Behcet's disease; celiac disease; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lipoproteins, LDL; null; hypertension; hepatitis C, chronic; Arthritis, Psoriatic|Psoriasis; HIV; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Osteolysis|Prosthesis Failure; Hepatitis C|Remission, Spontaneous; Spondylitis, Ankylosing; Asthma and Allergic Rhinitis; Cytomegalovirus Infections|Kidney Diseases; Chagas Cardiomyopathy; Crohn Disease|Rectal Fistula; bladder cancer; breast cancer; Anemia|Malaria; Hemoglobins; cervical intraepithelial neoplasia grade 3; dermatitis and eczema; Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Psoriasis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; lung cancer; Multiple Sclerosis; esophageal adenocarcinoma; hepatitis C liver disease, chronic and cirrhosis; myasthenia gravis; Colitis, Ulcerative; leprosy tuberculosis; benzene haematotoxicity; Celiac Disease|; Malaria, Falciparum|Parasitemia; Cytomegalovirus Infections|Postoperative Complications; Colitis, Ulcerative|Crohn Disease|; Arthritis, Psoriatic; Dawson's inclusion body encephalitis|Subacute Sclerosing Panencephalitis; tuberculosis; psoriasis psoriatic arthritis; hepatitis C; esophageal cancer ; Aggressive Periodontitis|Chronic Periodontitis|; AIDS Dementia Complex|HIV Infections; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Barrett Esophagus|Hernia, Hiatal|Inflammation; Helicobacter Infections; ulcerative colitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease; bronchodilator response; colorectal cancer; Crohn's, Ulcerative Colitis; Multiple Myeloma; HIV Infections|Neuritis|Somatosensory Disorders; myocardial infarct; atherosclerosis, coronary; chronic obstructive pulmonary disease; sarcoidosis; tuberculosis; paratyphoid feber typhoid fever; Leprosy, Lepromatous; Malaria, Cerebral; Cholesterol; Body Weight; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Lymphadenitis|Mycobacterium Infections|Periodontitis; schizophrenia; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; Cadaver|Cytomegalovirus Infections; Arthritis, Psoriatic|Diseases in Twins|Psoriasis|Psoriatic arthropathy; Chronic renal failure|Kidney Failure, Chronic; Asthma. allergic rhinitis; Type 2 Diabetes| edema | rosiglitazone; Crohn's disease; Graves' disease; Hashimoto's thryoiditis; Graves' disease Graves' ophthalmopathy hyperthyroidism IgE IL-12; Lymphoma, Large B-Cell, Diffuse; Tuberculosis; Neoplasms; peptic ulcer; diabetes, type 1; Graves' disease; Hashimoto's thryroiditis; silicosis; Asthma|Bronchial Hyperreactivity| Hypersensitivity, Immediate; psoriasis; asthma; multiple sclerosis; Lupus Erythematosus, Systemic; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; atherosclerosis; diabetes, type 1; HIV Infections; asthma (childhood); Adenocarcinoma|Stomach Neoplasms; cervical cancer; Coronary Artery Disease; hepatitis B; atopic dermatitis; Alcoholism|Liver Cirrhosis, Alcoholic; IgE levels; Hepatitis C|Hepatitis C, Chronic|Substance Abuse, Intravenous; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; Brain Neoplasms|Glioma; lung cancer ; measles vaccine immunity; Rubella; Glucose; Cholesterol, LDL; rheumatoid arthritis; Psoriasis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Tuberculosis, Pulmonary; Myocardial Infarction; psoriasis; dermatitis and eczema; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Infection|Postoperative Complications; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; lupus nephritis; Arthritis, Rheumatoid|Giant Cell Arteritis|Polymyalgia Rheumatica|Rheumatoid Arthritis|Temporal Arteritis; arthritis; felty's syndrome; large granular lymphocyte syndrome; susceptibility to tuberculosis; Asthma; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Leptospirosis|Swamp fever; Erythrocyte Count Mice homozygous for a null allele display impaired Th1 responses, defects in IFN gamma secretion and NK cell activity, increased susceptibility to bacterial and parasitic infection, alveolar bone loss, and resistance to chemically induced tumors and to delayed type hypersensitivity. Interleukin-4 and 13 signaling GO:0001916;positive regulation of T cell mediated cytotoxicity;IEA|GO:0002230;positive regulation of defense response to virus by host;IEA|GO:0002323;natural killer cell activation involved in immune response;IEA|GO:0002827;positive regulation of T-helper 1 type immune response;IEA|GO:0002860;positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target;IDA|GO:0002862;negative regulation of inflammatory response to antigenic stimulus;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0010033;response to organic substance;IEA|GO:0010224;response to UV-B;IDA|GO:0010536;positive regulation of activation of Janus kinase activity;IDA|GO:0016477;cell migration;IDA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019953;sexual reproduction;TAS|GO:0030101;natural killer cell activation;IDA|GO:0032693;negative regulation of interleukin-10 production;IMP|GO:0032700;negative regulation of interleukin-17 production;IDA|GO:0032725;positive regulation of granulocyte macrophage colony-stimulating factor production;IDA|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0032733;positive regulation of interleukin-10 production;IDA|GO:0032735;positive regulation of interleukin-12 production;IDA|GO:0032740;positive regulation of interleukin-17 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0032816;positive regulation of natural killer cell activation;IC|GO:0032819;positive regulation of natural killer cell proliferation;IDA|GO:0032946;positive regulation of mononuclear cell proliferation;IMP|GO:0034105;positive regulation of tissue remodeling;IC|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IDA|GO:0042035;regulation of cytokine biosynthetic process;TAS|GO:0042088;T-helper 1 type immune response;TAS|GO:0042093;T-helper cell differentiation;IDA|GO:0042095;interferon-gamma biosynthetic process;TAS|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0042346;positive regulation of NF-kappaB import into nucleus;TAS|GO:0042509;regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042832;defense response to protozoan;IEA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;TAS|GO:0045672;positive regulation of osteoclast differentiation;IDA|GO:0045785;positive regulation of cell adhesion;IDA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0050671;positive regulation of lymphocyte proliferation;IDA|GO:0050729;positive regulation of inflammatory response;IC|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0051135;positive regulation of NK T cell activation;IC|GO:0051142;positive regulation of NK T cell proliferation;IDA|GO:0051607;defense response to virus;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0043514;interleukin-12 complex;IDA|GO:0070743;interleukin-23 complex;IDA GO:0004896;cytokine receptor activity;IEA|GO:0005125;cytokine activity;IEA|GO:0005126;cytokine receptor binding;IEA|GO:0005143;interleukin-12 receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IDA|GO:0042164;interleukin-12 alpha subunit binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0045519;interleukin-23 receptor binding;IDA|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL12B https://www.uniprot.org/uniprot/P29460 https://hpo.jax.org/app/browse/search?q=IL12B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=161561 http://www.informatics.jax.org/searchtool/Search.do?query=IL12B&submit=Quick%0D%4344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12B rs34324765 0.16254 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic IL12B(NM_002187:c.*902_*901delinsT) IL12B(uc003lxr.1:c.*902_*901delinsT) ENSG00000249738 Na Na Na Na Na Na Het;-T 1023;57|58 Ref Hom;-T 2705;12|126 N N - 5 158743846 158743846 G A snp ncRNA_intronic AC008691.1 rs11574790 0.1252 0.1396 0.1149 1 0 0 intronic intronic ncRNA_intronic IL12B IL12B ENSG00000249738 Na Na Na Na Na Na Het;G>A 682;50|33 Ref Hom;G>A 1474;1|58 N N - 5 158747564 158747564 A C snp ncRNA_intronic AC008691.1 rs919766 0.136182 0.1512 0.1204 1 0 0 intronic intronic ncRNA_intronic IL12B IL12B ENSG00000249738 Na Na Na Na Na Na Het;A>C 645;27|24 Ref Hom;A>C 1262;0|40 N N - 5 161317770 161317770 C T snp intronic GABRA1 Gabra1 ENSG00000022355 gamma-aminobutyric acid type A receptor alpha1 subunit chr5:161274197-161326975 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] mood disorder.; Major Psychoses; Type 2 Diabetes| edema | rosiglitazone; precocious puberty; Body Height; essential tremor; Bipolar Disorder; alcohol-dependence; methamphetamine use; schizophrenia; alcohol abuse; mood disorders; several psychiatric disorders; autism; depressive disorder, major; bipolar disorder; alcohol withdrawal alcoholism; heroin abuse; Bulimia; Arteries; attention deficit disorder conduct disorder oppositional defiant disorder; Dystonic Disorders; epilepsy, juvenile myoclonic; alcohol dependence; alcoholism; seizures; mood disorder; bipolar schizoaffective disorder; cirrhosis, alcoholic; alcoholism; Epilepsy Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. GABA A receptor activation GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0051932;synaptic transmission, GABAergic;ISS|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0071420;cellular response to histamine;IEA|GO:1902476;chloride transmembrane transport;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902710;GABA receptor complex;ISS|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;TAS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0008144;drug binding;ISS|GO:0016917;GABA receptor activity;ISS|GO:0022851;GABA-gated chloride ion channel activity;IDA|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRA1 https://www.uniprot.org/uniprot/P14867 https://hpo.jax.org/app/browse/search?q=GABRA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137160 http://www.informatics.jax.org/searchtool/Search.do?query=GABRA1&submit=Quick%0D%672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRA1 rs1026447 0.825679 0 0 1 0 0 intronic intronic intronic GABRA1 GABRA1 ENSG00000022355 Na Na Na Na Na Na Het;C>T 41;2|2 Ref Hom;C>T 210;0|6 N N - 5 161337800 161337800 C T snp ncRNA_exonic LINC01202 rs1870230 0.815895 0 0 1 0 0 ncRNA_exonic intergenic intergenic LINC01202 GABRA1(dist=10835),GABRG2(dist=156848) ENSG00000022355(dist=10825),ENSG00000113327(dist=156746) Na Na Na Na Na Na Het;C>T 990;40|46 Ref Hom;C>T 2673;0|97 N N - 5 161337873 161337873 T C snp ncRNA_intronic LINC01202 rs1870231 0.815895 0 0 1 0 0 ncRNA_intronic intergenic intergenic LINC01202 GABRA1(dist=10908),GABRG2(dist=156775) ENSG00000022355(dist=10898),ENSG00000113327(dist=156673) Na Na Na Na Na Na Het;T>C 508;16|21 Ref Hom;T>C 1143;0|39 N N - 5 161581035 161581035 T A snp UTR3 *661T>A GABRG2 Gabrg2 ENSG00000113327 gamma-aminobutyric acid type A receptor gamma2 subunit chr5:161494546-161582542 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Epilepsies, Myoclonic|; heroin abuse; Epilepsy, Generalized|Seizures, Febrile; several psychiatric disorders; mood disorder; Dystonic Disorders; Alcoholism|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; schizophrenia; kidney aging; prefrontal activity; seizures, febrile; alcoholism; Bulimia; bipolar schizoaffective disorder; febrile seizures; alcohol-dependence; epilepsy; alcohol abuse; seizures; Body Height; Diseases in Twins; Epilepsy, Tonic-Clonic; methamphetamine abuse; cirrhosis, alcoholic; alcoholism; methamphetamine use; alcohol dependence; Alcoholism; Bipolar Disorder; event-related prefrontal activity; Epilepsy; alcohol consumption; Lipoproteins, VLDL; epilepsy; seizures, febrile Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors. GABA A receptor activation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0009791;post-embryonic development;IEA|GO:0030534;adult behavior;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0051932;synaptic transmission, GABAergic;ISS|GO:0071420;cellular response to histamine;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032590;dendrite membrane;ISS|GO:0034707;chloride channel complex;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IEA GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008503;benzodiazepine receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GABRG2 https://www.uniprot.org/uniprot/P18507 https://hpo.jax.org/app/browse/search?q=GABRG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137164 http://www.informatics.jax.org/searchtool/Search.do?query=GABRG2&submit=Quick%0D%4349ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRG2 rs424740 0.514577 0 0 1 0 0 UTR3 UTR3 UTR3 GABRG2(NM_198903:c.*661T>A,NM_198904:c.*661T>A,NM_000816:c.*661T>A) GABRG2(uc010jjc.3:c.*661T>A,uc003lyy.4:c.*661T>A,uc003lyz.4:c.*661T>A,uc011dej.2:c.*661T>A) ENSG00000113327(ENST00000356592:c.*661T>A,ENST00000414552:c.*661T>A,ENST00000522990:c.*1667T>A) Na Na Na Na Na Na Het;T>A 655;32|25 Het;T>A 1099;45|47 Hom;T>A 1840;0|68 N N - 5 16177716 16177716 T C snp intronic MARCH11 March11 rs342548 0.73123 0 0 1 0 0 intronic intronic intronic MARCH11 MARCH11 ENSG00000183654 Na Na Na Na Na Na Het;T>C 162;3|5 Het;T>C 74;4|3 Hom;T>C 141;0|4 N N - 5 162282543 162282543 G A snp intergenic GABRG2 Gabrg2 ENSG00000113327 gamma-aminobutyric acid type A receptor gamma2 subunit chr5:161494546-161582542 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Epilepsies, Myoclonic|; heroin abuse; Epilepsy, Generalized|Seizures, Febrile; several psychiatric disorders; mood disorder; Dystonic Disorders; Alcoholism|Liver Cirrhosis|Liver Cirrhosis, Alcoholic; schizophrenia; kidney aging; prefrontal activity; seizures, febrile; alcoholism; Bulimia; bipolar schizoaffective disorder; febrile seizures; alcohol-dependence; epilepsy; alcohol abuse; seizures; Body Height; Diseases in Twins; Epilepsy, Tonic-Clonic; methamphetamine abuse; cirrhosis, alcoholic; alcoholism; methamphetamine use; alcohol dependence; Alcoholism; Bipolar Disorder; event-related prefrontal activity; Epilepsy; alcohol consumption; Lipoproteins, VLDL; epilepsy; seizures, febrile Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors. GABA A receptor activation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0009791;post-embryonic development;IEA|GO:0030534;adult behavior;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0051932;synaptic transmission, GABAergic;ISS|GO:0071420;cellular response to histamine;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032590;dendrite membrane;ISS|GO:0034707;chloride channel complex;IEA|GO:0042995;cell projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IEA GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008503;benzodiazepine receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/GABRG2 https://www.uniprot.org/uniprot/P18507 https://hpo.jax.org/app/browse/search?q=GABRG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137164 http://www.informatics.jax.org/searchtool/Search.do?query=GABRG2&submit=Quick%0D%4349ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRG2 rs4921220 0.782149 0 0 1 0 0 intergenic intergenic intergenic GABRG2(dist=699998),CCNG1(dist=582034) GABRG2(dist=699998),CCNG1(dist=582034) ENSG00000254351(dist=93224),ENSG00000250061(dist=156728) Na Na Na Na Na Na Het;G>A 53;11|4 Het;G>A 103;16|7 Hom;G>A 588;0|21 N N - 5 162887650 162887650 G A snp UTR5 -49G>A HMMR Hmmr ENSG00000072571 hyaluronan mediated motility receptor chr5:162887209-162918947 The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008] Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Insulin Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030214;hyaluronan catabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMMR https://www.uniprot.org/uniprot/O75330 https://www.ncbi.nlm.nih.gov/omim/?term=600936 http://www.informatics.jax.org/searchtool/Search.do?query=HMMR&submit=Quick%0D%1439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMMR rs2303076 0.240615 0.1855 0.2673 1 0 0 UTR5 UTR5 UTR5 HMMR(NM_001142557:c.-83G>A,NM_012485:c.-49G>A,NM_001142556:c.-49G>A,NM_012484:c.-49G>A) HMMR(uc003lzh.3:c.-49G>A,uc003lzf.3:c.-49G>A,uc003lzg.3:c.-49G>A,uc011dem.2:c.-83G>A) ENSG00000072571(ENST00000353866:c.-49G>A,ENST00000393915:c.-49G>A,ENST00000432118:c.-83G>A) Na Na Na Na Na Na Het;G>A 680;23|28 Ref Hom;G>A 953;0|33 N N - 5 163769 163769 G A snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs29675 0.65016 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;G>A 142;3|6 Ref Hom;G>A 123;0|4 N N - 5 164467492 164467492 A G snp ncRNA_intronic AC109466.1 rs6556795 0.698882 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC102546299(dist=497503),CTB-7E3.1(dist=1864735) BC011998(dist=438069),7SK(dist=568954) ENSG00000241956 Na Na Na Na Na Na Het;A>G 206;11|7 Het;A>G 304;5|10 Hom;A>G 577;0|15 N N - 5 164520102 164520102 A G snp ncRNA_intronic AC109466.1 rs1895161 0.517772 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC102546299(dist=550113),CTB-7E3.1(dist=1812125) BC011998(dist=490679),7SK(dist=516344) ENSG00000241956 Na Na Na Na Na Na Het;A>G 905;40|28 Het;A>G 905;22|32 Hom;A>G 1614;0|52 N N - 5 164619905 164619907 AAG A indel intergenic LOC102546299 rs72244880 0.601238 0 0 1 0 0 intergenic intergenic intergenic LOC102546299(dist=649916),CTB-7E3.1(dist=1712320) BC011998(dist=590482),7SK(dist=416539) ENSG00000241956(dist=21256),ENSG00000254066(dist=27676) Na Na Na Na Na Na Het;-AG 111;2|4 Ref Hom;-AG 342;0|9 N N - 5 165069904 165069904 G A snp ncRNA_intronic AC008415.1 rs6873908 0.207668 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC102546299(dist=1099915),CTB-7E3.1(dist=1262323) 7SK(dist=33220),TENM2(dist=1641939) ENSG00000253693 Na Na Na Na Na Na Het;G>A 251;21|10 Ref Hom;G>A 1199;2|37 N N - 5 165420160 165420160 T C snp intergenic LOC102546299 rs10035746 0.517971 0 0 1 0 0 intergenic intergenic intergenic LOC102546299(dist=1450171),CTB-7E3.1(dist=912067) 7SK(dist=383476),TENM2(dist=1291683) ENSG00000253946(dist=87547),ENSG00000254252(dist=35412) Na Na Na Na Na Na Het;T>C 102;3|6 Het;T>C 123;8|6 Hom;T>C 331;0|11 N N - 5 16689794 16689794 C T snp intronic MYO10 Myo10 ENSG00000145555 myosin X chr5:16665395-16936372 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. Netrin-1 signaling GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYO10 https://www.uniprot.org/uniprot/Q9HD67 https://www.ncbi.nlm.nih.gov/omim/?term=601481 http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10 rs1863996 0.21226 0 0 1 0 0 intronic intronic intronic MYO10 MYO10 ENSG00000145555 Na Na Na Na Na Na Het;C>T 158;1|5 Ref Hom;C>T 126;0|4 N N - 5 167303317 167303317 G A snp intronic TENM2 Tenm2 ENSG00000145934 teneurin transmembrane protein 2 chr5:166711804-167691162 Uric Acid; Tobacco Use Disorder; Cholesterol, HDL; Aspartate Aminotransferases; Erythrocyte Count; Respiratory Function Tests; Heart Failure; Cholesterol; Glucose Mice homozygous for a null allele show abnormalities in the laterality and mapping of ipsilateral retinal projections that lead to loss of ipsilateral drive, defects in binocular vision, and impaired performance on a visual discrimination task. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0051491;positive regulation of filopodium assembly;ISS|GO:0097264;self proteolysis;IEA GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016605;PML body;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;ISS|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005102;receptor binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/TENM2 https://www.uniprot.org/uniprot/Q9NT68 https://www.ncbi.nlm.nih.gov/omim/?term=610119 http://www.informatics.jax.org/searchtool/Search.do?query=TENM2&submit=Quick%0D%8811ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TENM2 rs1862198 0 0 0 1 0 0 intronic intronic intronic TENM2 TENM2 ENSG00000145934 Na Na Na Na Na Na Het;G>A 229;10|8 Het;G>A 228;4|7 Hom;G>A 338;0|9 N N - 5 16763908 16763908 G A snp intronic MYO10 Myo10 ENSG00000145555 myosin X chr5:16665395-16936372 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. Netrin-1 signaling GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYO10 https://www.uniprot.org/uniprot/Q9HD67 https://www.ncbi.nlm.nih.gov/omim/?term=601481 http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10 rs39900 0.148762 0.1495 0.1571 1 0 0 intronic intronic intronic MYO10 MYO10 ENSG00000145555 Na Na Na Na Na Na Het;G>A 985;50|45 Het;G>A 554;33|28 Hom;G>A 2287;0|89 N N - 5 16764644 16764644 T C snp intronic MYO10 Myo10 ENSG00000145555 myosin X chr5:16665395-16936372 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. Netrin-1 signaling GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYO10 https://www.uniprot.org/uniprot/Q9HD67 https://www.ncbi.nlm.nih.gov/omim/?term=601481 http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10 rs2561231 0.279153 0 0 1 0 0 intronic intronic intronic MYO10 MYO10 ENSG00000145555 Na Na Na Na Na Na Het;T>C 687;36|22 Het;T>C 465;19|15 Hom;T>C 878;0|30 N N - 5 16764695 16764695 T C snp intronic MYO10 Myo10 ENSG00000145555 myosin X chr5:16665395-16936372 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. Netrin-1 signaling GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYO10 https://www.uniprot.org/uniprot/Q9HD67 https://www.ncbi.nlm.nih.gov/omim/?term=601481 http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10 rs173658 0.279153 0 0 1 0 0 intronic intronic intronic MYO10 MYO10 ENSG00000145555 Na Na Na Na Na Na Het;T>C 193;12|7 Het;T>C 196;3|6 Hom;T>C 355;0|10 N N - 5 16823832 16823832 T G snp intronic MYO10 Myo10 ENSG00000145555 myosin X chr5:16665395-16936372 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Lipoproteins, VLDL; Hypertension; Tobacco Use Disorder; Forced Vital Capacity; Alzheimer's disease ; von Willebrand Factor; Neutrophils; Iron; Lymphocytes Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. Netrin-1 signaling GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0008360;regulation of cell shape;IMP|GO:0022409;positive regulation of cell-cell adhesion;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;ISS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051489;regulation of filopodium assembly;IMP GO:0001726;ruffle;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031527;filopodium membrane;IEA|GO:0032433;filopodium tip;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;EXP|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;ISS|GO:0030507;spectrin binding;IDA|GO:0030898;actin-dependent ATPase activity;ISS|GO:0051015;actin filament binding;ISS|GO:0060002;plus-end directed microfilament motor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYO10 https://www.uniprot.org/uniprot/Q9HD67 https://www.ncbi.nlm.nih.gov/omim/?term=601481 http://www.informatics.jax.org/searchtool/Search.do?query=MYO10&submit=Quick%0D%8753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO10 rs62369348 0.150359 0 0 1 0 0 intronic intronic intronic MYO10 MYO10 ENSG00000145555 Na Na Na Na Na Na Het;T>G 50;1|3 Ref Hom;T>G 106;0|4 N N - 5 169361 169361 C T snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs13159868 0.398962 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;C>T 132;11|6 Het;C>T 75;6|4 Hom;C>T 217;0|6 N N - 5 169702390 169702390 C A snp intronic LCP2 Lcp2 ENSG00000043462 lymphocyte cytosolic protein 2 chr5:169673241-169725231 SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008] Exercise Test; HIV Infections|[X]Human immunodeficiency virus disease; Lymphedema T cell development is blocked and T cell receptor signaling impaired in homozygous point mutants. Double positive thymocyte and single positive T cell numbers are much reduced. Both positive and negative thymocyte selection is abnormal. Mice have high IgG and IgE levels and exhibit autoimmunity. FCERI mediated Ca+2 mobilization GO:0006955;immune response;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IBA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045576;mast cell activation;IEA|GO:0045860;positive regulation of protein kinase activity;IEP|GO:0050663;cytokine secretion;IEA|GO:0050852;T cell receptor signaling pathway;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005911;cell-cell junction;IEA|GO:0036398;TCR signalosome;IDA|GO:0044853;plasma membrane raft;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LCP2 https://www.uniprot.org/uniprot/Q13094 https://www.ncbi.nlm.nih.gov/omim/?term=601603 http://www.informatics.jax.org/searchtool/Search.do?query=LCP2&submit=Quick%0D%846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCP2 rs2271146 0.3127 0.4427 0.4392 1 0 0 intronic intronic intronic LCP2 LCP2 ENSG00000043462 Na Na Na Na Na Na Het;C>A 1353;61|64 Ref Hom;C>A 2732;0|105 N N - 5 169763 169763 A G snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs1108868 0.465455 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;A>G 468;34|18 Het;A>G 487;19|17 Hom;A>G 1464;0|42 N N - 5 170060727 170060728 GA G indel intronic KCNIP1 Kcnip1 ENSG00000182132 potassium voltage-gated channel interacting protein 1 chr5:169780491-170163636 This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Erythrocyte Count; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; normalized brain volume, multiple sclerosis Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures. Phase 1 - inactivation of fast Na+ channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IDA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0042995;cell projection;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNIP1 https://www.ncbi.nlm.nih.gov/omim/?term=604660 http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP1&submit=Quick%0D%14723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP1 Na 0 0 0 1 0 0 intronic intronic intronic KCNIP1 KCNIP1 ENSG00000182132 Na Na Na Na Na Na Het;-A 32;3|3 Ref Hom;-A 98;0|3 N N - 5 170149674 170149674 A T snp intronic KCNIP1 Kcnip1 ENSG00000182132 potassium voltage-gated channel interacting protein 1 chr5:169780491-170163636 This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Erythrocyte Count; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; normalized brain volume, multiple sclerosis Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures. Phase 1 - inactivation of fast Na+ channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IDA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0042995;cell projection;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNIP1 https://www.ncbi.nlm.nih.gov/omim/?term=604660 http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP1&submit=Quick%0D%14723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP1 rs12514966 0.172524 0.3109 0.2980 1 0 0 intronic intronic intronic KCNIP1 KCNIP1 ENSG00000182132 Na Na Na Na Na Na Het;A>T 517;21|20 Ref Hom;A>T 974;0|35 N N - 5 170159997 170159997 C T snp intronic KCNIP1 Kcnip1 ENSG00000182132 potassium voltage-gated channel interacting protein 1 chr5:169780491-170163636 This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Erythrocyte Count; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; normalized brain volume, multiple sclerosis Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures. Phase 1 - inactivation of fast Na+ channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IDA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0042995;cell projection;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNIP1 https://www.ncbi.nlm.nih.gov/omim/?term=604660 http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP1&submit=Quick%0D%14723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP1 rs17650650 0.173922 0 0 1 0 0 intronic intronic intronic KCNIP1 KCNIP1 ENSG00000182132 Na Na Na Na Na Na Het;C>T 439;20|17 Ref Hom;C>T 778;0|25 N N - 5 170162666 170162666 T C snp intronic KCNIP1 Kcnip1 ENSG00000182132 potassium voltage-gated channel interacting protein 1 chr5:169780491-170163636 This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Erythrocyte Count; Type 2 Diabetes| edema | rosiglitazone; Multiple Sclerosis; normalized brain volume, multiple sclerosis Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures. Phase 1 - inactivation of fast Na+ channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IDA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0042995;cell projection;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNIP1 https://www.ncbi.nlm.nih.gov/omim/?term=604660 http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP1&submit=Quick%0D%14723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP1 rs1363712 0.235224 0 0 1 0 0 intronic intronic intronic KCNIP1 KCNIP1 ENSG00000182132 Na Na Na Na Na Na Het;T>C 287;16|12 Ref Hom;T>C 493;0|18 N N - 5 171569 171569 T C snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs4956981 0.551717 0.6917 0.6665 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;T>C 1161;35|45 Het;T>C 702;35|33 Hom;T>C 1765;0|64 N N - 5 171643 171643 C G snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs13171103 0.546725 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;C>G 651;21|25 Het;C>G 194;21|10 Hom;C>G 551;0|19 N N - 5 171785892 171785892 A G snp intronic SH3PXD2B Sh3pxd2b ENSG00000174705 SH3 and PX domains 2B chr5:171752185-171881527 This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] Obesity; Fibrinogen; Tobacco Use Disorder Homozygous mutations of this gene result in decreased body size, pronounced craniofacial, skeletal and cardiac defects, and eye anomalies including anterior segment dysgenesis, corneal opacities and ocular hypertension. GO:0001501;skeletal system development;IMP|GO:0001654;eye development;IEA|GO:0002051;osteoblast fate commitment;IEA|GO:0006801;superoxide metabolic process;IDA|GO:0007507;heart development;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0022617;extracellular matrix disassembly;IMP|GO:0030154;cell differentiation;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0055114;oxidation-reduction process;IBA|GO:0060348;bone development;IEA|GO:0060378;regulation of brood size;IEA|GO:0060612;adipose tissue development;IEA|GO:0071800;podosome assembly;IEA|GO:0072657;protein localization to membrane;IDA|GO:1904179;positive regulation of adipose tissue development;IEA|GO:1904888;cranial skeletal system development;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0010314;phosphatidylinositol-5-phosphate binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0032266;phosphatidylinositol-3-phosphate binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0042169;SH2 domain binding;IEA|GO:0070273;phosphatidylinositol-4-phosphate binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3PXD2B https://hpo.jax.org/app/browse/search?q=SH3PXD2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613293 http://www.informatics.jax.org/searchtool/Search.do?query=SH3PXD2B&submit=Quick%0D%13563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3PXD2B rs2569232 0.782748 0.7235 0.7413 1 0 0 intronic intronic intronic SH3PXD2B SH3PXD2B ENSG00000174705 Na Na Na Na Na Na Het;A>G 945;42|42 Het;A>G 754;38|32 Hom;A>G 2869;0|97 N N - 5 172382266 172382266 A G snp ncRNA_exonic LOC100268168 rs28550282 0.491813 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC100268168 LOC100268168 ENSG00000204758 Na Na Na Na Na Na Het;A>G 452;16|14 Het;A>G 274;8|9 Hom;A>G 521;0|14 N N - 5 172774396 172774396 G A snp upstream MIR8056 rs4868260 0 0 0 1 0 0 upstream intergenic intergenic MIR8056 STC2(dist=17890),U6(dist=14741) ENSG00000113739(dist=17890),ENSG00000199219(dist=14741) Na Na Na Na Na Na Het;G>A 251;3|12 Het;G>A 79;8|6 Hom;G>A 491;0|17 N N - 5 172774409 172774409 C T snp upstream MIR8056 rs4868261 0.742013 0 0.75 1 0 0 upstream intergenic intergenic MIR8056 STC2(dist=17903),U6(dist=14728) ENSG00000113739(dist=17903),ENSG00000199219(dist=14728) Na Na Na Na Na Na Het;C>T 280;3|14 Het;C>T 110;12|8 Hom;C>T 595;0|21 N N - 5 172774424 172774424 T C snp upstream MIR8056 rs4868262 0.742013 0 1 1 0 0 upstream intergenic intergenic MIR8056 STC2(dist=17918),U6(dist=14713) ENSG00000113739(dist=17918),ENSG00000199219(dist=14713) Na Na Na Na Na Na Het;T>C 438;6|19 Het;T>C 144;15|10 Hom;T>C 707;0|26 N N - 5 172774626 172774626 C T snp downstream MIR8056 rs6871935 0.741014 0 0 1 0 0 downstream intergenic intergenic MIR8056 STC2(dist=18120),U6(dist=14511) ENSG00000113739(dist=18120),ENSG00000199219(dist=14511) Na Na Na Na Na Na Het;C>T 144;5|6 Het;C>T 71;6|4 Hom;C>T 269;0|9 N N - 5 172971 172971 G A snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6868964 0.456869 0.5647 0.5219 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;G>A 670;21|29 Het;G>A 350;25|15 Hom;G>A 882;2|32 N N - 5 173200 173200 C T snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6885136 0.456869 0.5573 0.5291 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;C>T 700;18|29 Het;C>T 309;19|14 Hom;C>T 1090;0|37 N N - 5 173258 173258 A G snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6893369 0.539537 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;A>G 264;10|10 Het;A>G 77;6|4 Hom;A>G 493;0|14 N N - 5 173316729 173316729 G A snp UTR5 -8G>A CPEB4 Cpeb4 ENSG00000113742 cytoplasmic polyadenylation element binding protein 4 chr5:173315283-173388979 Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; Vitamin K; Crohn Disease|Crohn's disease; Waist-Hip Ratio Homozygotes for a null allele show slightly longer dendritic spines but normal hippocampal synaptic plasticity and memory. Homozygotes for a different null allele show neo- and postnatal lethality, erythropoiesis, suckling and mobility defects, and reduced motor axon branching and NMJ formation. GO:0002931;response to ischemia;IEA|GO:0006412;translation;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0036294;cellular response to decreased oxygen levels;ISS|GO:0042149;cellular response to glucose starvation;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0071230;cellular response to amino acid stimulus;IEA|GO:2000766;negative regulation of cytoplasmic translation;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IBA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1990124;messenger ribonucleoprotein complex;IBA GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IBA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IBA|GO:0043022;ribosome binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPEB4 https://www.uniprot.org/uniprot/Q17RY0 https://www.ncbi.nlm.nih.gov/omim/?term=610607 http://www.informatics.jax.org/searchtool/Search.do?query=CPEB4&submit=Quick%0D%4403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB4 rs359467 0.551917 0.6736 0.6471 1 0 0 UTR5 UTR5 UTR5 CPEB4(NM_030627:c.-8G>A) CPEB4(uc010jju.2:c.-8G>A,uc003mcs.4:c.-8G>A,uc010jjv.3:c.-8G>A,uc011dfg.2:c.-8G>A) ENSG00000113742(ENST00000265085:c.-8G>A,ENST00000334035:c.-8G>A,ENST00000520867:c.-8G>A,ENST00000519835:c.-8G>A) Na Na Na Na Na Na Het;G>A 900;37|40 Het;G>A 630;27|28 Hom;G>A 1443;0|51 N N - 5 173380346 173380346 C T snp UTR3 *38C>T CPEB4 Cpeb4 ENSG00000113742 cytoplasmic polyadenylation element binding protein 4 chr5:173315283-173388979 Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; Vitamin K; Crohn Disease|Crohn's disease; Waist-Hip Ratio Homozygotes for a null allele show slightly longer dendritic spines but normal hippocampal synaptic plasticity and memory. Homozygotes for a different null allele show neo- and postnatal lethality, erythropoiesis, suckling and mobility defects, and reduced motor axon branching and NMJ formation. GO:0002931;response to ischemia;IEA|GO:0006412;translation;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0036294;cellular response to decreased oxygen levels;ISS|GO:0042149;cellular response to glucose starvation;ISS|GO:0043524;negative regulation of neuron apoptotic process;ISS|GO:0071230;cellular response to amino acid stimulus;IEA|GO:2000766;negative regulation of cytoplasmic translation;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IBA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:1990124;messenger ribonucleoprotein complex;IBA GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003730;mRNA 3'-UTR binding;IBA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IBA|GO:0043022;ribosome binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPEB4 https://www.uniprot.org/uniprot/Q17RY0 https://www.ncbi.nlm.nih.gov/omim/?term=610607 http://www.informatics.jax.org/searchtool/Search.do?query=CPEB4&submit=Quick%0D%4403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB4 rs969518 0.483227 0 0.5380 1 0 0 intronic UTR3 UTR3 CPEB4 CPEB4(uc010jju.2:c.*38C>T,uc021yhy.1:c.*38C>T) ENSG00000113742(ENST00000519835:c.*38C>T) Na Na Na Na Na Na Het;C>T 301;18|14 Het;C>T 288;12|12 Hom;C>T 1390;0|49 N N - 5 17380627 17380627 A T snp ncRNA_intronic LOC401177 rs7716697 0.34345 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC401177 LOC401177 ENSG00000250822 Na Na Na Na Na Na Het;A>T 586;12|18 Het;A>T 1011;11|38 Hom;A>T 1457;0|47 N N - 5 173953424 173953424 C T snp ncRNA_exonic LINC01411 rs13162813 0.633187 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01411 HMP19(dist=417242),MSX2(dist=198151) ENSG00000249306 Na Na Na Na Na Na Het;C>T 755;43|32 Het;C>T 548;55|28 Hom;C>T 1699;0|58 N N - 5 174155970 174155974 ATGTG A indel intronic MSX2 Msx2 ENSG00000120149 msh homeobox 2 chr5:174151536-174157896 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008] Maximal Midexpiratory Flow Rate; Bone Mineral Density; Waist Circumference; Sepsis; Basophils; Sleep Apnea, Obstructive; Cleft Lip|Cleft Palate; Spondylitis, Ankylosing; Amyotrophic Lateral Sclerosis; Celiac Disease|; Hip; Breath Tests; Myocardial Infarction; hair thickness; Vitamin D; Intra-Abdominal Fat; cleft lip with cleft palate; cleft lip without cleft palate Homozygotes for a targeted null mutation exhibit defective skull ossification with persistent calvarial foramen, alopecia, stubby and curly whiskers, seizures, and impaired development of teeth, cerebellum, and mammary gland. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001503;ossification;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0002063;chondrocyte development;IEA|GO:0002076;osteoblast development;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003416;endochondral bone growth;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0032792;negative regulation of CREB transcription factor activity;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035313;wound healing, spreading of epidermal cells;IEA|GO:0035880;embryonic nail plate morphogenesis;IEA|GO:0042060;wound healing;IEA|GO:0042476;odontogenesis;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045617;negative regulation of keratinocyte differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048863;stem cell differentiation;IEA|GO:0051216;cartilage development;IEA|GO:0051795;positive regulation of timing of catagen;IEA|GO:0060346;bone trabecula formation;IEA|GO:0060349;bone morphogenesis;IEA|GO:0060363;cranial suture morphogenesis;TAS|GO:0060364;frontal suture morphogenesis;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0061180;mammary gland epithelium development;IEA|GO:0061312;BMP signaling pathway involved in heart development;IEA|GO:0070166;enamel mineralization;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0090427;activation of meiosis;IEA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IEA|GO:2001055;positive regulation of mesenchymal cell apoptotic process;IEA GO:0005634;nucleus;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003712;transcription cofactor activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MSX2 https://www.uniprot.org/uniprot/P35548 https://hpo.jax.org/app/browse/search?q=MSX2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123101 http://www.informatics.jax.org/searchtool/Search.do?query=MSX2&submit=Quick%0D%5169ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MSX2 rs112486159 0 0 0 1 0 0 intronic intronic intronic MSX2 MSX2 ENSG00000120149 Na Na Na Na Na Na Het;-TGTG 86;1|3 Ref Hom;-TGTG 188;0|5 N N - 5 174240 174240 G A snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6875054 0.540136 0.6878 0.6432 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;G>A 880;27|25 Het;G>A 727;21|20 Hom;G>A 1200;0|28 N N - 5 174241 174241 C A snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6890914 0.540136 0.6892 0.6408 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;C>A 880;25|22 Het;C>A 727;21|20 Hom;C>A 1200;0|28 N N - 5 174267 174267 A G snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6862729 0.541134 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;A>G 181;19|8 Het;A>G 65;9|5 Hom;A>G 288;0|9 N N - 5 17445833 17445833 A G snp ncRNA_exonic LINC02218 rs10057009 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC401177(dist=58414),NONE(dist=NONE) LOC401177(dist=58414),BC028204(dist=365728) ENSG00000249662 Na Na Na Na Na Na Het;A>G 1066;57|48 Het;A>G 1611;35|68 Hom;A>G 3429;0|126 N N - 5 17446132 17446132 T G snp ncRNA_intronic LINC02218 rs17544470 0.0708866 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC401177(dist=58713),NONE(dist=NONE) LOC401177(dist=58713),BC028204(dist=365429) ENSG00000249662 Na Na Na Na Na Na Het;T>G 149;3|7 Het;T>G 157;12|7 Hom;T>G 484;0|16 N N - 5 174496 174496 T C snp intronic PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs6868092 0.544129 0 0 1 0 0 intronic intronic intronic PLEKHG4B PLEKHG4B ENSG00000153404 Na Na Na Na Na Na Het;T>C 31;3|2 Ref Hom;T>C 176;0|7 N N - 5 17517784 17517784 G A snp upstream ENSG00000248861 rs4702218 0.629593 0 0 1 0 0 intergenic intergenic upstream LOC401177(dist=130365),CDH18(dist=1955371) LOC401177(dist=130365),BC028204(dist=293777) ENSG00000248861 Na Na Na Na Na Na Het;G>A 167;2|5 Het;G>A 177;2|6 Hom;G>A 96;0|4 N N - 5 175323485 175323485 A G snp intergenic CPLX2 Cplx2 ENSG00000145920 complexin 2 chr5:175223313-175311023 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Myocardial Infarction; Tobacco Use Disorder; hypertension; schizophrenia; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Triglycerides Mice homozygous for disruptions in this gene display a variety of neurological abnormalities related to coordination, learning, and social interaction. GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;TAS|GO:0007399;nervous system development;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0030154;cell differentiation;IEA|GO:0031915;positive regulation of synaptic plasticity;IEA|GO:0043303;mast cell degranulation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030425;dendrite;IEA|GO:0031201;SNARE complex;IEA|GO:0042629;mast cell granule;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0045202;synapse;IEA|GO:0070033;synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex;IEA|GO:0070554;synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex;TAS GO:0000149;SNARE binding;IEA|GO:0017075;syntaxin-1 binding;IEA|GO:0019905;syntaxin binding;IEA|GO:0048306;calcium-dependent protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPLX2 https://www.uniprot.org/uniprot/Q6PUV4 https://www.ncbi.nlm.nih.gov/omim/?term=605033 http://www.informatics.jax.org/searchtool/Search.do?query=CPLX2&submit=Quick%0D%8810ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPLX2 rs35395029 0.774361 0 0 1 0 0 intergenic intergenic intergenic CPLX2(dist=12462),THOC3(dist=63049) Hfb1(dist=12461),THOC3(dist=63049) ENSG00000145920(dist=12462),ENSG00000250820(dist=10457) Na Na Na Na Na Na Het;A>G 88;1|4 Ref Hom;A>G 112;0|5 N N - 5 175600406 175600406 A G snp ncRNA_exonic LOC643201 rs1060141 0.517173 0 0 1 0 0 ncRNA_intronic ncRNA_exonic ncRNA_exonic LOC643201 LOC643201 ENSG00000248596 Na Na Na Na Na Na Het;A>G 371;8|16 Het;A>G 330;3|13 Hom;A>G 180;0|7 N N - 5 175603576 175603576 C G snp ncRNA_exonic AC139491.2 rs4868611 0.408546 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LOC643201 LOC643201 ENSG00000248596 Na Na Na Na Na Na Het;C>G 299;6|9 Het;C>G 174;10|6 Hom;C>G 215;0|6 N N - 5 175612177 175612177 G A snp ncRNA_exonic LOC643201 rs3815694 0.469449 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC643201 LOC643201 ENSG00000248596 Na Na Na Na Na Na Het;G>A 1520;123|76 Het;G>A 1596;101|77 Hom;G>A 4447;0|159 N N - 5 175614523 175614523 G A snp ncRNA_exonic LOC643201 rs6889186 0.40635 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC643201 LOC643201 ENSG00000248596 Na Na Na Na Na Na Het;G>A 1797;62|82 Het;G>A 974;71|46 Hom;G>A 3100;0|115 N N - 5 175614758 175614758 A C snp ncRNA_intronic LOC643201 rs35345121 0.491214 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC643201 LOC643201 ENSG00000248596 Na Na Na Na Na Na Het;A>C 67;3|3 Het;A>C 64;3|3 Hom;A>C 155;0|5 N N - 5 175814065 175814069 TTCTC T indel intronic NOP16 Nop16 ENSG00000048162 NOP16 nucleolar protein chr5:175810949-175815976 This gene encodes a protein that is localized to the nucleolus. Expression of this gene is induced by estrogens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] GO:0042273;ribosomal large subunit biogenesis;IBA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NOP16 https://www.uniprot.org/uniprot/Q9Y3C1 https://www.ncbi.nlm.nih.gov/omim/?term=612861 http://www.informatics.jax.org/searchtool/Search.do?query=NOP16&submit=Quick%0D%885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOP16 rs55641001 0.448482 0 0 1 0 0 intronic intronic intronic NOP16 NOP16 ENSG00000048162,ENSG00000175414 Na Na Na Na Na Na Het;-TCTC 129;25|11 Het;-TCTC 622;5|17 Hom;-TCTC 982;1|25 N N - 5 175923354 175923354 G A snp intronic FAF2 Faf2 ENSG00000113194 Fas associated factor family member 2 chr5:175874629-175937075 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008] Erythrocyte Count Mice homozygous for a conditional allele activated in the liver exhibit high-fat diet-induced periportal steatosis with reduced circulating lipid levels and ApoB secretion. Neutrophil degranulation GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0034389;lipid particle organization;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005811;lipid particle;IDA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA|GO:0035578;azurophil granule lumen;TAS GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0035473;lipase binding;IDA|GO:0043130;ubiquitin binding;IDA|GO:0055102;lipase inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAF2 https://www.uniprot.org/uniprot/Q96CS3 https://www.ncbi.nlm.nih.gov/omim/?term=616935 http://www.informatics.jax.org/searchtool/Search.do?query=FAF2&submit=Quick%0D%4326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAF2 rs2963669 0.849641 0 0 1 0 0 intronic intronic intronic FAF2 FAF2 ENSG00000113194 Na Na Na Na Na Na Het;G>A 350;5|11 Het;G>A 116;1|4 Hom;G>A 202;0|6 N N - 5 175923431 175923431 G A snp intronic FAF2 Faf2 ENSG00000113194 Fas associated factor family member 2 chr5:175874629-175937075 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008] Erythrocyte Count Mice homozygous for a conditional allele activated in the liver exhibit high-fat diet-induced periportal steatosis with reduced circulating lipid levels and ApoB secretion. Neutrophil degranulation GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0034389;lipid particle organization;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005811;lipid particle;IDA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA|GO:0035578;azurophil granule lumen;TAS GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0035473;lipase binding;IDA|GO:0043130;ubiquitin binding;IDA|GO:0055102;lipase inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAF2 https://www.uniprot.org/uniprot/Q96CS3 https://www.ncbi.nlm.nih.gov/omim/?term=616935 http://www.informatics.jax.org/searchtool/Search.do?query=FAF2&submit=Quick%0D%4326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAF2 rs2963670 0 0 0 1 0 0 intronic intronic intronic FAF2 FAF2 ENSG00000113194 Na Na Na Na Na Na Het;G>A 764;14|26 Het;G>A 455;18|16 Hom;G>A 617;0|18 N N - 5 175933691 175933699 TGTGTGTGC T indel intronic FAF2 Faf2 ENSG00000113194 Fas associated factor family member 2 chr5:175874629-175937075 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008] Erythrocyte Count Mice homozygous for a conditional allele activated in the liver exhibit high-fat diet-induced periportal steatosis with reduced circulating lipid levels and ApoB secretion. Neutrophil degranulation GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0030970;retrograde protein transport, ER to cytosol;IMP|GO:0034389;lipid particle organization;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005811;lipid particle;IDA|GO:0034098;VCP-NPL4-UFD1 AAA ATPase complex;IDA|GO:0035578;azurophil granule lumen;TAS GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0035473;lipase binding;IDA|GO:0043130;ubiquitin binding;IDA|GO:0055102;lipase inhibitor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAF2 https://www.uniprot.org/uniprot/Q96CS3 https://www.ncbi.nlm.nih.gov/omim/?term=616935 http://www.informatics.jax.org/searchtool/Search.do?query=FAF2&submit=Quick%0D%4326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAF2 rs10563462 0.616813 0 0 1 0 0 intronic intronic intronic FAF2 FAF2 ENSG00000113194 Na Na Na Na Na Na Het;-GTGTGTGC 324;17|10 Het;-GTGTGTGC 146;9|5 Hom;-GTGTGTGC 853;0|20 N N - 5 176305466 176305466 T A snp intronic UNC5A Unc5a ENSG00000113763 unc-5 netrin receptor A chr5:176237478-176307897 UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004] Type 2 Diabetes| edema | rosiglitazone Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. Ligand-independent caspase activation via DCC GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0031175;neuron projection development;ISS|GO:0033564;anterior/posterior axon guidance;IEA|GO:0038007;netrin-activated signaling pathway;ISS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031226;intrinsic component of plasma membrane;ISS|GO:0032589;neuron projection membrane;ISS|GO:0032809;neuronal cell body membrane;ISS|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC5A https://www.uniprot.org/uniprot/Q6ZN44 https://www.ncbi.nlm.nih.gov/omim/?term=607869 http://www.informatics.jax.org/searchtool/Search.do?query=UNC5A&submit=Quick%0D%4407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC5A rs2304516 0 0.6544 0.7287 1 0 0 intronic intronic intronic UNC5A UNC5A ENSG00000113763 Na Na Na Na Na Na Het;T>A 2884;145|127 Het;T>A 2539;85|114 Hom;T>A 5167;0|190 N N - 5 176306676 176306676 G A snp intronic UNC5A Unc5a ENSG00000113763 unc-5 netrin receptor A chr5:176237478-176307897 UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004] Type 2 Diabetes| edema | rosiglitazone Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. Ligand-independent caspase activation via DCC GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0031175;neuron projection development;ISS|GO:0033564;anterior/posterior axon guidance;IEA|GO:0038007;netrin-activated signaling pathway;ISS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031226;intrinsic component of plasma membrane;ISS|GO:0032589;neuron projection membrane;ISS|GO:0032809;neuronal cell body membrane;ISS|GO:0042995;cell projection;IEA|GO:0045121;membrane raft;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNC5A https://www.uniprot.org/uniprot/Q6ZN44 https://www.ncbi.nlm.nih.gov/omim/?term=607869 http://www.informatics.jax.org/searchtool/Search.do?query=UNC5A&submit=Quick%0D%4407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC5A rs2292257 0.553914 0.6599 0.7167 1 0 0 intronic intronic intronic UNC5A UNC5A ENSG00000113763 Na Na Na Na Na Na Het;G>A 972;33|36 Het;G>A 987;33|38 Hom;G>A 1216;0|42 N N - 5 176916516 176916516 C T snp nonsynonymous SNV G685A G229S aliphatic,neutral polar,hydrophilic,neutral PDLIM7 Pdlim7 ENSG00000196923 PDZ and LIM domain 7 chr5:176910395-176924607 The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Mice homozygous for a gene trap allele exhibit heart defects and hemostatic dysfunction. RET signaling GO:0001503;ossification;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0030154;cell differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA GO:0001725;stress fiber;IEA|GO:0001726;ruffle;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDLIM7 https://www.ncbi.nlm.nih.gov/omim/?term=605903 http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM7&submit=Quick%0D%16497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM7 rs335462 0.4375 0.4757 0.5012 0.18 2 11 exonic exonic exonic PDLIM7 PDLIM7 ENSG00000196923 synonymous SNV nonsynonymous SNV unknown PDLIM7:NM_005451:exon9:c.G747A:p.P249P,PDLIM7:NM_203352:exon9:c.G645A:p.P215P, PDLIM7:uc003mhf.3:exon8:c.G685A:p.G229S, UNKNOWN Het;C>T 1872;82|81 Het;C>T 1728;82|79 Hom;C>T 5036;2|185 N N - 5 176930171 176930174 AGAG A indel nonframeshift substitution 865_868T DOK3 Dok3 ENSG00000146094 docking protein 3 chr5:176928908-176938275 Mice homozygous for a knock-out allele exhibit increased incidence of lung adenocarcinomas. Mice for another null alelle show increased IgM antibodies and have enchanced humoral immune responses to T cell-independent type I and II antigens. Neutrophil degranulation GO:0007265;Ras protein signal transduction;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOK3 https://www.uniprot.org/uniprot/Q7L591 https://www.ncbi.nlm.nih.gov/omim/?term=611435 http://www.informatics.jax.org/searchtool/Search.do?query=DOK3&submit=Quick%0D%8838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOK3 rs138153794 0.533946 0.4996 0.5665 1 0 0 exonic exonic exonic DOK3 DOK3 ENSG00000146094 nonframeshift substitution nonframeshift substitution unknown DOK3:NM_001144875:exon6:c.865_868T,DOK3:NM_001144876:exon5:c.559_562T, DOK3:uc003mhj.4:exon5:c.559_562T,DOK3:uc003mhh.4:exon4:c.523_526T,DOK3:uc003mhi.4:exon6:c.865_868T, UNKNOWN Het;-GAG 3428;104|90 Het;-GAG 2367;84|65 Hom;-GAG 8568;1|197 N N - 5 176940274 176940274 C T snp intronic DDX41 Ddx41 ENSG00000183258 DEAD-box helicase 41 chr5:176938578-176944470 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq, Jul 2008] MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS FAMILIAL (MULTIPLE TYPES) SUSCEPTIBILITY TO IRF3-mediated induction of type I IFN GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;TAS|GO:0008283;cell proliferation;IMP|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0030154;cell differentiation;IMP|GO:0032479;regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0035458;cellular response to interferon-beta;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051607;defense response to virus;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DDX41 https://www.ncbi.nlm.nih.gov/omim/?term=608170 http://www.informatics.jax.org/searchtool/Search.do?query=DDX41&submit=Quick%0D%14951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX41 rs335437 0.349441 0 0 1 0 0 intronic intronic intronic DDX41 DDX41 ENSG00000183258 Na Na Na Na Na Na Het;C>T 554;24|21 Het;C>T 404;14|15 Hom;C>T 836;0|24 N N - 5 176940384 176940384 G A snp synonymous SNV C1200T R400R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DDX41 Ddx41 ENSG00000183258 DEAD-box helicase 41 chr5:176938578-176944470 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq, Jul 2008] MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS FAMILIAL (MULTIPLE TYPES) SUSCEPTIBILITY TO IRF3-mediated induction of type I IFN GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;TAS|GO:0008283;cell proliferation;IMP|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0030154;cell differentiation;IMP|GO:0032479;regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0035458;cellular response to interferon-beta;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051607;defense response to virus;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DDX41 https://www.ncbi.nlm.nih.gov/omim/?term=608170 http://www.informatics.jax.org/searchtool/Search.do?query=DDX41&submit=Quick%0D%14951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX41 rs335438 0.386382 0.4609 0.4198 1 0 0 exonic exonic exonic DDX41 DDX41 ENSG00000183258 synonymous SNV synonymous SNV unknown DDX41:NM_016222:exon11:c.C1200T:p.R400R, DDX41:uc003mhn.3:exon10:c.C807T:p.R269R,DDX41:uc003mhp.3:exon10:c.C807T:p.R269R,DDX41:uc003mho.3:exon11:c.C1200T:p.R400R,DDX41:uc003mhq.1:exon9:c.C540T:p.R180R, UNKNOWN Het;G>A 1233;81|59 Het;G>A 1073;48|47 Hom;G>A 2445;0|89 N N - 5 176947107 176947107 G A snp UTR3 *77C>T FAM193B Fam193b ENSG00000146067 family with sequence similarity 193 member B chr5:176946789-176981542 GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM193B https://www.uniprot.org/uniprot/Q96PV7 https://www.ncbi.nlm.nih.gov/omim/?term=615813 http://www.informatics.jax.org/searchtool/Search.do?query=FAM193B&submit=Quick%0D%8832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM193B rs8900 0 0 0 1 0 0 UTR3 UTR3 UTR3 FAM193B(NM_001190946:c.*77C>T) FAM193B(uc003mhr.3:c.*77C>T,uc021yiw.1:c.*77C>T,uc003mht.3:c.*77C>T,uc003mhv.3:c.*77C>T,uc003mhu.3:c.*77C>T) ENSG00000146067(ENST00000514747:c.*77C>T,ENST00000513282:c.*243C>T,ENST00000329540:c.*77C>T,ENST00000443375:c.*77C>T,ENST00000506955:c.*3776C>T,ENST00000510479:c.*2073C>T,ENST00000510163:c.*1597C>T,ENST00000524677:c.*77C>T,ENST00000507212:c.*247C>T) Na Na Na Na Na Na Het;G>A 1404;55|57 Het;G>A 1406;54|65 Hom;G>A 3687;1|129 N N - 5 177422823 177422823 C T snp intronic PROP1 Prop1 ENSG00000280635 PROP paired-like homeobox 1 chr5:177419236-177423243 This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011] Hypopituitarism|Hypopituitarism NOS; Hypopituitarism; Bone Mineral Density; Type 2 Diabetes| edema | rosiglitazone; combined pituitary hormone deficiency Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone. GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PROP1 https://hpo.jax.org/app/browse/search?q=PROP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601538 http://www.informatics.jax.org/searchtool/Search.do?query=PROP1&submit=Quick%0D%22228ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROP1 rs4072924 0.506589 0.5582 0.5113 1 0 0 intronic intronic intronic PROP1 PROP1 ENSG00000175325 Na Na Na Na Na Na Het;C>T 689;42|33 Het;C>T 821;32|35 Hom;C>T 1603;2|60 N N - 5 177423281 177423281 C A snp upstream PROP1 Prop1 ENSG00000280635 PROP paired-like homeobox 1 chr5:177419236-177423243 This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011] Hypopituitarism|Hypopituitarism NOS; Hypopituitarism; Bone Mineral Density; Type 2 Diabetes| edema | rosiglitazone; combined pituitary hormone deficiency Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone. GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PROP1 https://hpo.jax.org/app/browse/search?q=PROP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601538 http://www.informatics.jax.org/searchtool/Search.do?query=PROP1&submit=Quick%0D%22228ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROP1 rs12654239 0.445487 0 0 1 0 0 upstream upstream upstream PROP1 PROP1 ENSG00000175325 Na Na Na Na Na Na Het;C>A 309;10|13 Het;C>A 78;14|7 Hom;C>A 718;0|26 N N - 5 177547336 177547336 G A snp nonsynonymous SNV G488A R163Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral N4BP3 N4bp3 ENSG00000145911 NEDD4 binding protein 3 chr5:177540444-177553088 GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/N4BP3 https://www.uniprot.org/uniprot/O15049 http://www.informatics.jax.org/searchtool/Search.do?query=N4BP3&submit=Quick%0D%8806ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=N4BP3 rs3812082 0.147963 0.1673 0.2280 0.08 1 13 exonic exonic exonic N4BP3 N4BP3 ENSG00000145911 nonsynonymous SNV nonsynonymous SNV unknown N4BP3:NM_015111:exon3:c.G488A:p.R163Q, N4BP3:uc003mik.1:exon3:c.G488A:p.R163Q, UNKNOWN Het;G>A 747;52|35 Het;G>A 946;47|37 Hom;G>A 2121;0|66 N N - 5 178040919 178040919 G A snp intronic CLK4 Clk4 ENSG00000113240 CDC like kinase 4 chr5:178029665-178057616 The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008] GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0043484;regulation of RNA splicing;IMP|GO:0046777;protein autophosphorylation;IEA GO:0005634;nucleus;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLK4 https://www.uniprot.org/uniprot/Q9HAZ1 https://www.ncbi.nlm.nih.gov/omim/?term=607969 http://www.informatics.jax.org/searchtool/Search.do?query=CLK4&submit=Quick%0D%4333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLK4 rs560842 0.942093 0 0 1 0 0 intronic intronic intronic CLK4 CLK4 ENSG00000113240 Na Na Na Na Na Na Het;G>A 471;27|18 Het;G>A 292;15|11 Hom;G>A 940;0|33 N N - 5 178139442 178139442 T G snp synonymous SNV A1437C S479S polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF354A Zfp354a ENSG00000169131 zinc finger protein 354A chr5:178138593-178157703 HIV Infections|[X]Human immunodeficiency virus disease; ovarian cancer Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007605;sensory perception of sound;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF354A https://www.ncbi.nlm.nih.gov/omim/?term=602444 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF354A&submit=Quick%0D%12423ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF354A rs1132338 0.285343 0.2430 0.3000 1 0 0 exonic exonic exonic ZNF354A ZNF354A ENSG00000169131 synonymous SNV synonymous SNV unknown ZNF354A:NM_005649:exon5:c.A1437C:p.S479S, ZNF354A:uc003mjj.3:exon5:c.A1437C:p.S479S, UNKNOWN Het;T>G 97;5|4 Het;T>G 248;3|9 Hom;T>G 160;0|5 N N - 5 178140090 178140090 C T snp synonymous SNV G789A T263T polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF354A Zfp354a ENSG00000169131 zinc finger protein 354A chr5:178138593-178157703 HIV Infections|[X]Human immunodeficiency virus disease; ovarian cancer Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007605;sensory perception of sound;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF354A https://www.ncbi.nlm.nih.gov/omim/?term=602444 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF354A&submit=Quick%0D%12423ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF354A rs1132336 0.263179 0.2249 0.2946 1 0 0 exonic exonic exonic ZNF354A ZNF354A ENSG00000169131 synonymous SNV synonymous SNV unknown ZNF354A:NM_005649:exon5:c.G789A:p.T263T, ZNF354A:uc003mjj.3:exon5:c.G789A:p.T263T, UNKNOWN Het;C>T 2954;119|128 Het;C>T 3032;137|137 Hom;C>T 7753;0|279 N N - 5 178195606 178195606 A G snp ncRNA_exonic AACSP1 rs10035648 0.408546 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;A>G 1759;74|74 Het;A>G 1628;50|73 Hom;A>G 3373;0|125 N N - 5 178195673 178195673 T C snp ncRNA_intronic AACSP1 rs11949276 0.360224 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;T>C 1080;37|41 Het;T>C 1049;30|46 Hom;T>C 1592;0|56 N N - 5 178195722 178195722 A G snp ncRNA_intronic AACSP1 rs11948633 0.358027 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;A>G 431;22|16 Het;A>G 494;11|20 Hom;A>G 806;0|24 N N - 5 178195775 178195775 T C snp ncRNA_intronic AACSP1 rs11949310 0.357228 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;T>C 326;8|9 Het;T>C 170;4|5 Hom;T>C 380;0|10 N N - 5 178195776 178195776 A G snp ncRNA_intronic AACSP1 rs11948637 0.357228 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;A>G 326;8|9 Het;A>G 170;4|5 Hom;A>G 380;0|8 N N - 5 178195797 178195797 A G snp ncRNA_intronic AACSP1 rs11949270 0.357428 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;A>G 261;6|9 Het;A>G 38;3|2 Hom;A>G 269;0|9 N N - 5 178195840 178195840 T C snp ncRNA_intronic AACSP1 rs11949981 0.358626 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;T>C 155;3|5 Ref Hom;T>C 114;0|5 N N - 5 178199558 178199558 C G snp ncRNA_exonic AACSP1 rs13354485 0.354633 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;C>G 1398;96|67 Het;C>G 2075;114|95 Hom;C>G 4334;5|162 N N - 5 178201428 178201428 T G snp ncRNA_intronic AACSP1 rs12656116 0.360024 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic AACSP1 AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;T>G 528;26|22 Het;T>G 588;19|23 Hom;T>G 1302;1|43 N N - 5 178224411 178224411 A G snp ncRNA_intronic AACSP1 rs11737921 0.246605 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic AACSP1(dist=21134),ZNF354B(dist=62543) AACSP1 ENSG00000250420 Na Na Na Na Na Na Het;A>G 745;9|21 Het;A>G 307;20|10 Hom;A>G 474;0|12 N N - 5 178409856 178409856 C T snp ncRNA_intronic AC104117.3 rs2071248 0.455871 0 0 1 0 0 intronic intronic ncRNA_intronic GRM6 GRM6 ENSG00000254035 Na Na Na Na Na Na Het;C>T 2698;66|67 Het;C>T 1106;48|49 Hom;C>T 4141;0|110 N N - 5 178413816 178413816 T C snp ncRNA_intronic AC104117.3 rs2256966 0.544529 0.5769 0.6064 1 0 0 intronic intronic ncRNA_intronic GRM6 GRM6 ENSG00000254035 Na Na Na Na Na Na Het;T>C 4210;184|182 Het;T>C 3025;126|138 Hom;T>C 8063;2|294 N N - 5 178413947 178413947 T C snp synonymous SNV A1392G G464G aliphatic,neutral aliphatic,neutral GRM6 Grm6 ENSG00000113262 glutamate metabotropic receptor 6 chr5:178405328-178423207 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] Myopia; Retinal Diseases; Weight Gain; Heroin Dependence; Opioid-Related Disorders; Tobacco Use Disorder; Night Blindness|Retinal Diseases; several psychiatric disorders Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IBA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009584;detection of visible light;TAS|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0050953;sensory perception of light stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0060041;retina development in camera-type eye;IEA|GO:0090280;positive regulation of calcium ion import;IMP GO:0000139;Golgi membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0035841;new growing cell tip;IEA|GO:0042734;presynaptic membrane;IBA|GO:0042995;cell projection;IEA GO:0001640;adenylate cyclase inhibiting G-protein coupled glutamate receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;IMP|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRM6 https://www.uniprot.org/uniprot/O15303 https://hpo.jax.org/app/browse/search?q=GRM6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604096 http://www.informatics.jax.org/searchtool/Search.do?query=GRM6&submit=Quick%0D%4336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM6 rs11746675 0.535543 0.5684 0.5997 1 0 0 exonic exonic exonic GRM6 GRM6 ENSG00000113262 synonymous SNV synonymous SNV unknown GRM6:NM_000843:exon7:c.A1392G:p.G464G, GRM6:uc010jla.1:exon3:c.A141G:p.G47G,GRM6:uc003mjr.3:exon7:c.A1392G:p.G464G,GRM6:uc003mjs.1:exon3:c.A252G:p.G84G, UNKNOWN Het;T>C 2228;126|92 Het;T>C 1806;89|81 Hom;T>C 4447;0|150 N N - 5 178415937 178415937 A G snp synonymous SNV T1353C N451N polar,hydrophilic,neutral polar,hydrophilic,neutral GRM6 Grm6 ENSG00000113262 glutamate metabotropic receptor 6 chr5:178405328-178423207 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] Myopia; Retinal Diseases; Weight Gain; Heroin Dependence; Opioid-Related Disorders; Tobacco Use Disorder; Night Blindness|Retinal Diseases; several psychiatric disorders Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IBA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009584;detection of visible light;TAS|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0050953;sensory perception of light stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0060041;retina development in camera-type eye;IEA|GO:0090280;positive regulation of calcium ion import;IMP GO:0000139;Golgi membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0035841;new growing cell tip;IEA|GO:0042734;presynaptic membrane;IBA|GO:0042995;cell projection;IEA GO:0001640;adenylate cyclase inhibiting G-protein coupled glutamate receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;IMP|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRM6 https://www.uniprot.org/uniprot/O15303 https://hpo.jax.org/app/browse/search?q=GRM6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604096 http://www.informatics.jax.org/searchtool/Search.do?query=GRM6&submit=Quick%0D%4336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM6 rs2067011 0.506989 0.4945 0.5328 1 0 0 exonic exonic exonic GRM6 GRM6 ENSG00000113262 synonymous SNV synonymous SNV unknown GRM6:NM_000843:exon6:c.T1353C:p.N451N, GRM6:uc010jla.1:exon2:c.T102C:p.N34N,GRM6:uc003mjr.3:exon6:c.T1353C:p.N451N,GRM6:uc003mjs.1:exon2:c.T213C:p.N71N, UNKNOWN Het;A>G 1067;44|46 Het;A>G 1240;35|54 Hom;A>G 1663;4|63 N N - 5 178416063 178416063 G A snp synonymous SNV C1227T Y409Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic GRM6 Grm6 ENSG00000113262 glutamate metabotropic receptor 6 chr5:178405328-178423207 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] Myopia; Retinal Diseases; Weight Gain; Heroin Dependence; Opioid-Related Disorders; Tobacco Use Disorder; Night Blindness|Retinal Diseases; several psychiatric disorders Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IBA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009584;detection of visible light;TAS|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0050953;sensory perception of light stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0060041;retina development in camera-type eye;IEA|GO:0090280;positive regulation of calcium ion import;IMP GO:0000139;Golgi membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0035841;new growing cell tip;IEA|GO:0042734;presynaptic membrane;IBA|GO:0042995;cell projection;IEA GO:0001640;adenylate cyclase inhibiting G-protein coupled glutamate receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;IMP|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRM6 https://www.uniprot.org/uniprot/O15303 https://hpo.jax.org/app/browse/search?q=GRM6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604096 http://www.informatics.jax.org/searchtool/Search.do?query=GRM6&submit=Quick%0D%4336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM6 rs2645339 0 0.4882 0.5256 1 0 0 exonic exonic exonic GRM6 GRM6 ENSG00000113262 synonymous SNV synonymous SNV unknown GRM6:NM_000843:exon6:c.C1227T:p.Y409Y, GRM6:uc003mjr.3:exon6:c.C1227T:p.Y409Y,GRM6:uc003mjs.1:exon2:c.C87T:p.Y29Y, UNKNOWN Het;G>A 2657;122|124 Het;G>A 2870;97|123 Hom;G>A 4889;1|182 N N - 5 178416203 178416212 CCCCTCCCCA C indel ncRNA_intronic AC104117.3 rs143495088 0.505192 0 0.6349 1 0 0 intronic intronic ncRNA_intronic GRM6 GRM6 ENSG00000254035 Na Na Na Na Na Na Het;-CCCTCCCCA 780;31|25 Het;-CCCTCCCCA 868;28|27 Hom;-CCCTCCCCA 1576;0|39 N N - 5 178421351 178421351 T C snp intronic GRM6 Grm6 ENSG00000113262 glutamate metabotropic receptor 6 chr5:178405328-178423207 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] Myopia; Retinal Diseases; Weight Gain; Heroin Dependence; Opioid-Related Disorders; Tobacco Use Disorder; Night Blindness|Retinal Diseases; several psychiatric disorders Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IBA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009584;detection of visible light;TAS|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0050953;sensory perception of light stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0060041;retina development in camera-type eye;IEA|GO:0090280;positive regulation of calcium ion import;IMP GO:0000139;Golgi membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0035841;new growing cell tip;IEA|GO:0042734;presynaptic membrane;IBA|GO:0042995;cell projection;IEA GO:0001640;adenylate cyclase inhibiting G-protein coupled glutamate receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;IMP|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRM6 https://www.uniprot.org/uniprot/O15303 https://hpo.jax.org/app/browse/search?q=GRM6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604096 http://www.informatics.jax.org/searchtool/Search.do?query=GRM6&submit=Quick%0D%4336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM6 rs2645330 0.534744 0 0 1 0 0 intronic intronic intronic GRM6 GRM6 ENSG00000113262 Na Na Na Na Na Na Het;T>C 511;29|22 Het;T>C 387;28|18 Hom;T>C 1533;0|56 N N - 5 178421770 178421770 T G snp nonsynonymous SNV A176C Q59P polar,hydrophilic,neutral hydrophobic,neutral GRM6 Grm6 ENSG00000113262 glutamate metabotropic receptor 6 chr5:178405328-178423207 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] Myopia; Retinal Diseases; Weight Gain; Heroin Dependence; Opioid-Related Disorders; Tobacco Use Disorder; Night Blindness|Retinal Diseases; several psychiatric disorders Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007196;adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway;IBA|GO:0007216;G-protein coupled glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009584;detection of visible light;TAS|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP|GO:0050953;sensory perception of light stimulus;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IBA|GO:0060041;retina development in camera-type eye;IEA|GO:0090280;positive regulation of calcium ion import;IMP GO:0000139;Golgi membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0035841;new growing cell tip;IEA|GO:0042734;presynaptic membrane;IBA|GO:0042995;cell projection;IEA GO:0001640;adenylate cyclase inhibiting G-protein coupled glutamate receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008066;glutamate receptor activity;IMP|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRM6 https://www.uniprot.org/uniprot/O15303 https://hpo.jax.org/app/browse/search?q=GRM6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604096 http://www.informatics.jax.org/searchtool/Search.do?query=GRM6&submit=Quick%0D%4336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRM6 rs2645329 0.551917 0.6359 0.4891 0.17 2 12 exonic exonic exonic GRM6 GRM6 ENSG00000113262 nonsynonymous SNV nonsynonymous SNV unknown GRM6:NM_000843:exon1:c.A176C:p.Q59P, GRM6:uc003mjr.3:exon1:c.A176C:p.Q59P, UNKNOWN Het;T>G 60;12|5 Het;T>G 189;10|10 Hom;T>G 452;0|17 N N - 5 178770759 178770759 C G snp intronic ADAMTS2 Adamts2 ENSG00000283802 ADAM metallopeptidase with thrombospondin type 1 motif 2 chr5:178537852-178772431 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Hypertrophy, Left Ventricular; Attention deficit hyperactivity disorder (time to onset); Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS2 https://www.uniprot.org/uniprot/O95450 https://hpo.jax.org/app/browse/search?q=ADAMTS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604539 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS2&submit=Quick%0D%22808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS2 rs2271213 0.395367 0.2849 0.4150 1 0 0 intronic intronic intronic ADAMTS2 ADAMTS2 ENSG00000087116 Na Na Na Na Na Na Het;C>G 1220;41|55 Het;C>G 836;33|34 Hom;C>G 1430;0|53 N N - 5 178770981 178770981 A G snp synonymous SNV T321C S107S polar,hydrophilic,neutral polar,hydrophilic,neutral ADAMTS2 Adamts2 ENSG00000283802 ADAM metallopeptidase with thrombospondin type 1 motif 2 chr5:178537852-178772431 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Hypertrophy, Left Ventricular; Attention deficit hyperactivity disorder (time to onset); Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS2 https://www.uniprot.org/uniprot/O95450 https://hpo.jax.org/app/browse/search?q=ADAMTS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604539 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS2&submit=Quick%0D%22808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS2 rs2271212 0 0.3089 0.4092 1 0 0 exonic exonic exonic ADAMTS2 ADAMTS2 ENSG00000087116 synonymous SNV synonymous SNV unknown ADAMTS2:NM_021599:exon2:c.T321C:p.S107S,ADAMTS2:NM_014244:exon2:c.T321C:p.S107S, ADAMTS2:uc011dgm.2:exon2:c.T321C:p.S107S,ADAMTS2:uc003mjw.3:exon2:c.T321C:p.S107S, UNKNOWN Het;A>G 1233;41|51 Het;A>G 999;49|41 Hom;A>G 2333;2|85 N N - 5 178999658 178999658 A G snp ncRNA_exonic PRDX2P3 rs7447429 0.486821 0 0 1 0 0 intronic intronic ncRNA_exonic RUFY1 RUFY1 ENSG00000249140 Na Na Na Na Na Na Het;A>G 78;5|5 Ref Hom;A>G 71;0|4 N N - 5 179105533 179105533 G C snp upstream;downstream CANX Canx ENSG00000283777 calnexin chr5:179105629-179157926 This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] nephrogenic diabetes insipidus; Type 2 Diabetes| edema | rosiglitazone Homozygotes for a targeted null mutation exhibit motor defects, loss of large myelinated nerve fibers, small size, and very high mortality between birth and 4 weeks of age. http://www.genecards.org/index.php?path=/Search/keyword/CANX https://www.uniprot.org/uniprot/P27824 https://www.ncbi.nlm.nih.gov/omim/?term=114217 http://www.informatics.jax.org/searchtool/Search.do?query=CANX&submit=Quick%0D%22799ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CANX rs75628693 0.199481 0 0 1 0 0 downstream downstream upstream;downstream CBY3 CBY3 ENSG00000127022,ENSG00000225051;ENSG00000204659 Na Na Na Na Na Na Het;G>C 272;8|12 Het;G>C 190;8|8 Hom;G>C 237;0|9 N N - 5 179407229 179407229 C T snp intronic RNF130 Rnf130 ENSG00000113269 ring finger protein 130 chr5:179338651-179499118 The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Receptors, Tumor Necrosis Factor, Type II; Coronary Disease Antigen processing: Ubiquitination & Proteasome degradation GO:0006915;apoptotic process;IEA|GO:0012501;programmed cell death;ISS|GO:0016567;protein ubiquitination;IEA GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF130 https://www.uniprot.org/uniprot/Q86XS8 http://www.informatics.jax.org/searchtool/Search.do?query=RNF130&submit=Quick%0D%4338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF130 rs28011 0.711262 0.8019 0.7175 1 0 0 intronic intronic intronic RNF130 RNF130 ENSG00000113269 Na Na Na Na Na Na Het;C>T 904;37|44 Het;C>T 995;44|45 Hom;C>T 2031;0|73 N N - 5 179546030 179546030 A G snp intronic RASGEF1C Rasgef1c ENSG00000146090 RasGEF domain family member 1C chr5:179527795-179636153 Heart Failure GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGEF1C https://www.uniprot.org/uniprot/Q8N431 http://www.informatics.jax.org/searchtool/Search.do?query=RASGEF1C&submit=Quick%0D%8837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGEF1C rs7732620 0.588658 0 0 1 0 0 intronic intronic intronic RASGEF1C RASGEF1C ENSG00000146090 Na Na Na Na Na Na Het;A>G 173;3|5 Ref Hom;A>G 197;0|5 N N - 5 179546031 179546031 G A snp intronic RASGEF1C Rasgef1c ENSG00000146090 RasGEF domain family member 1C chr5:179527795-179636153 Heart Failure GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGEF1C https://www.uniprot.org/uniprot/Q8N431 http://www.informatics.jax.org/searchtool/Search.do?query=RASGEF1C&submit=Quick%0D%8837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGEF1C rs7712019 0.589058 0 0 1 0 0 intronic intronic intronic RASGEF1C RASGEF1C ENSG00000146090 Na Na Na Na Na Na Het;G>A 173;3|5 Ref Hom;G>A 197;0|5 N N - 5 179546264 179546264 A C snp intronic RASGEF1C Rasgef1c ENSG00000146090 RasGEF domain family member 1C chr5:179527795-179636153 Heart Failure GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGEF1C https://www.uniprot.org/uniprot/Q8N431 http://www.informatics.jax.org/searchtool/Search.do?query=RASGEF1C&submit=Quick%0D%8837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGEF1C rs36055015 0.0840655 0 0 1 0 0 intronic intronic intronic RASGEF1C RASGEF1C ENSG00000146090 Na Na Na Na Na Na Het;A>C 507;21|21 Het;A>C 582;14|27 Hom;A>C 860;0|31 N N - 5 179780292 179780301 CCTCCGTGGG C indel UTR5 -75_-84delinsG GFPT2 Gfpt2 ENSG00000131459 glutamine-fructose-6-phosphate transaminase 2 chr5:179727690-179780387 Parkinson Disease; Chronic Kidney Insufficiency|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Renal Insufficiency, Chronic; diabetes, type 2; nephropathy in other diseases Synthesis of UDP-N-acetyl-glucosamine GO:0006002;fructose 6-phosphate metabolic process;TAS|GO:0006048;UDP-N-acetylglucosamine biosynthetic process;TAS|GO:0006112;energy reserve metabolic process;TAS|GO:0006541;glutamine metabolic process;IEA|GO:1901135;carbohydrate derivative metabolic process;IEA|GO:1901137;carbohydrate derivative biosynthetic process;IEA GO:0005829;cytosol;TAS GO:0004360;glutamine-fructose-6-phosphate transaminase (isomerizing) activity;TAS|GO:0005515;protein binding;IPI|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0097367;carbohydrate derivative binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GFPT2 https://www.uniprot.org/uniprot/O94808 https://www.ncbi.nlm.nih.gov/omim/?term=603865 http://www.informatics.jax.org/searchtool/Search.do?query=GFPT2&submit=Quick%0D%6543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFPT2 rs199818683 0.307109 0.3899 0 1 0 0 UTR5 UTR5 UTR5 GFPT2(NM_005110:c.-75_-84delinsG) GFPT2(uc003mlw.1:c.-75_-84delinsG) ENSG00000131459(ENST00000253778:c.-75_-84delinsG) Na Na Na Na Na Na Het;-CTCCGTGGG 1093;24|29 Het;-CTCCGTGGG 708;26|21 Hom;-CTCCGTGGG 1927;0|46 N N - 5 180049928 180049928 A C snp intronic FLT4 Flt4 ENSG00000037280 fms related tyrosine kinase 4 chr5:180028506-180076624 This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008] Lymphedema; solid tumors; Chylothorax; Chronic renal failure|Kidney Failure, Chronic; Lymphangiectasis|Lymphedema; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Alcoholism; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema. VEGF binds to VEGFR leading to receptor dimerization GO:0001525;angiogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001944;vasculature development;IEA|GO:0001945;lymph vessel development;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0003016;respiratory system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0046777;protein autophosphorylation;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048286;lung alveolus development;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0060312;regulation of blood vessel remodeling;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0090037;positive regulation of protein kinase C signaling;IMP GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;TAS|GO:0005021;vascular endothelial growth factor-activated receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019838;growth factor binding;IPI|GO:0019903;protein phosphatase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FLT4 https://www.uniprot.org/uniprot/P35916 https://hpo.jax.org/app/browse/search?q=FLT4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=136352 http://www.informatics.jax.org/searchtool/Search.do?query=FLT4&submit=Quick%0D%789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT4 rs307828 0 0 0 1 0 0 intronic intronic intronic FLT4 FLT4 ENSG00000037280 Na Na Na Na Na Na Het;A>C 221;4|11 Het;A>C 270;4|14 Hom;A>C 185;0|7 N N - 5 180338300 180338300 G A snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs2276994 0.432708 0.4659 0.3847 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;G>A 487;17|18 Het;G>A 305;13|14 Hom;G>A 428;0|15 N N - 5 180338368 180338368 A G snp nonsynonymous SNV A427G T143A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs2276995 0.432508 0.4678 0.3796 0.08 1 12 exonic exonic exonic BTNL8 BTNL8 ENSG00000113303 nonsynonymous SNV nonsynonymous SNV unknown BTNL8:NM_001159707:exon2:c.A79G:p.T27A,BTNL8:NM_001040462:exon3:c.A427G:p.T143A,BTNL8:NM_001159709:exon3:c.A52G:p.T18A,BTNL8:NM_024850:exon3:c.A427G:p.T143A,BTNL8:NM_001159708:exon3:c.A427G:p.T143A, BTNL8:uc010jll.3:exon3:c.A427G:p.T143A,BTNL8:uc003mmp.3:exon3:c.A427G:p.T143A,BTNL8:uc003mmq.3:exon3:c.A427G:p.T143A,BTNL8:uc011dhg.2:exon3:c.A52G:p.T18A,BTNL8:uc010jlm.3:exon2:c.A79G:p.T27A, UNKNOWN Het;A>G 1159;50|50 Het;A>G 657;44|34 Hom;A>G 1716;0|63 N N - 5 180374534 180374534 G A snp synonymous SNV G348A S116S polar,hydrophilic,neutral polar,hydrophilic,neutral BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs3733756 0.440895 0.4854 0.3970 1 0 0 exonic exonic exonic BTNL8 BTNL8 ENSG00000113303 synonymous SNV synonymous SNV unknown BTNL8:NM_001159707:exon3:c.G348A:p.S116S,BTNL8:NM_001040462:exon4:c.G696A:p.S232S,BTNL8:NM_001159709:exon4:c.G321A:p.S107S,BTNL8:NM_001159710:exon3:c.G144A:p.S48S,BTNL8:NM_024850:exon4:c.G696A:p.S232S,BTNL8:NM_001159708:exon4:c.G696A:p.S232S, BTNL8:uc011dhh.2:exon3:c.G144A:p.S48S,BTNL8:uc010jll.3:exon4:c.G696A:p.S232S,BTNL8:uc003mmp.3:exon4:c.G696A:p.S232S,BTNL8:uc003mmq.3:exon4:c.G696A:p.S232S,BTNL8:uc011dhg.2:exon4:c.G321A:p.S107S,BTNL8:uc010jlm.3:exon3:c.G348A:p.S116S, UNKNOWN Het;G>A 1018;52|46 Het;G>A 943;67|47 Hom;G>A 2639;2|96 N N - 5 180374898 180374898 A G snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs7711990 0.440895 0 0 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;A>G 82;2|3 Ref Hom;A>G 135;0|4 N N - 5 180375095 180375095 T C snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs35779349 0 0 0 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;T>C 56;6|4 Het;T>C 97;6|6 Hom;T>C 256;0|11 N N - 5 180375208 180375208 A G snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs111403382 0.338059 0 0 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;A>G 198;13|7 Ref Hom;A>G 179;0|5 N N - 5 180376208 180376208 T G snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs112784326 0 0 0.0168 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;T>G 633;100|34 Ref Hom;T>G 1131;0|39 N N - 5 180376223 180376223 G C snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs111695455 0 0 0.0782 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;G>C 794;112|40 Ref Hom;G>C 1439;0|49 N N - 5 180376804 180376804 C A snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs150239197 0.190296 0 0 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;C>A 188;10|8 Ref Hom;C>A 359;0|13 N N - 5 180376860 180376860 G C snp intronic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs7702022 0.245008 0.2644 0.1907 1 0 0 intronic intronic intronic BTNL8 BTNL8 ENSG00000113303 Na Na Na Na Na Na Het;G>C 359;16|15 Ref Hom;G>C 520;0|19 N N - 5 180377331 180377331 T C snp synonymous SNV T942C Y314Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs2278689 0.248802 0.2720 0.1694 1 0 0 exonic exonic exonic BTNL8 BTNL8 ENSG00000113303 synonymous SNV synonymous SNV unknown BTNL8:NM_001159707:exon7:c.T942C:p.Y314Y,BTNL8:NM_001040462:exon8:c.T1290C:p.Y430Y,BTNL8:NM_001159709:exon8:c.T915C:p.Y305Y,BTNL8:NM_001159710:exon7:c.T738C:p.Y246Y, BTNL8:uc011dhh.2:exon7:c.T738C:p.Y246Y,BTNL8:uc003mmp.3:exon8:c.T1290C:p.Y430Y,BTNL8:uc011dhg.2:exon8:c.T915C:p.Y305Y,BTNL8:uc010jlm.3:exon7:c.T942C:p.Y314Y, UNKNOWN Het;T>C 2431;91|99 Ref Hom;T>C 2375;0|83 N N - 5 180377470 180377470 G A snp nonsynonymous SNV G877A A293T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral BTNL8 ENSG00000113303 butyrophilin like 8 chr5:180326077-180377906 Butyrophilin (BTN) family interactions GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTNL8 https://www.uniprot.org/uniprot/Q6UX41 https://www.ncbi.nlm.nih.gov/omim/?term=615606 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL8&submit=Quick%0D%4345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL8 rs113820381 0.242212 0.2641 0.1683 0.08 1 12 exonic exonic exonic BTNL8 BTNL8 ENSG00000113303 nonsynonymous SNV nonsynonymous SNV unknown BTNL8:NM_001159707:exon7:c.G1081A:p.A361T,BTNL8:NM_001040462:exon8:c.G1429A:p.A477T,BTNL8:NM_001159709:exon8:c.G1054A:p.A352T,BTNL8:NM_001159710:exon7:c.G877A:p.A293T, BTNL8:uc011dhh.2:exon7:c.G877A:p.A293T,BTNL8:uc003mmp.3:exon8:c.G1429A:p.A477T,BTNL8:uc011dhg.2:exon8:c.G1054A:p.A352T,BTNL8:uc010jlm.3:exon7:c.G1081A:p.A361T, UNKNOWN Het;G>A 2060;58|84 Ref Hom;G>A 1779;0|66 N N - 5 180393804 180393804 T G snp downstream AC091874.3 rs150614519 0.22484 0 0 1 0 0 intergenic intergenic downstream BTNL8(dist=15898),BTNL3(dist=22041) BTNL8(dist=15898),BTNL3(dist=22041) ENSG00000249287 Na Na Na Na Na Na Het;T>G 316;12|14 Ref Hom;T>G 395;0|17 N N - 5 180394195 180394195 C A snp ncRNA_exonic AC091874.3 rs112911993 0.198482 0 0 1 0 0 intergenic intergenic ncRNA_exonic BTNL8(dist=16289),BTNL3(dist=21650) BTNL8(dist=16289),BTNL3(dist=21650) ENSG00000249287 Na Na Na Na Na Na Het;C>A 297;5|11 Ref Hom;C>A 414;0|17 N N - 5 180395409 180395409 C T snp ncRNA_exonic AC091874.2 rs147405477 0.221845 0 0 1 0 0 intergenic intergenic ncRNA_exonic BTNL8(dist=17503),BTNL3(dist=20436) BTNL8(dist=17503),BTNL3(dist=20436) ENSG00000248761 Na Na Na Na Na Na Het;C>T 507;21|23 Ref Hom;C>T 567;0|22 N N - 5 180409462 180409462 C G snp ncRNA_exonic AC091874.1 rs10057725 0.195088 0.2247 0.1629 1 0 0 intergenic intergenic ncRNA_exonic BTNL8(dist=31556),BTNL3(dist=6383) BTNL8(dist=31556),BTNL3(dist=6383) ENSG00000231228 Na Na Na Na Na Na Het;C>G 484;34|22 Ref Hom;C>G 612;0|24 N N - 5 180432416 180432416 C T snp synonymous SNV C945T P315P hydrophobic,neutral hydrophobic,neutral BTNL3 ENSG00000168903 butyrophilin like 3 chr5:180415845-180433727 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/BTNL3 https://www.ncbi.nlm.nih.gov/omim/?term=606192 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL3&submit=Quick%0D%12369ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL3 rs7726150 0.461861 0 0.4311 1 0 0 exonic exonic exonic BTNL3 BTNL3 ENSG00000168903 synonymous SNV synonymous SNV unknown BTNL3:NM_197975:exon8:c.C945T:p.P315P, BTNL3:uc010jlp.3:exon5:c.C300T:p.P100P,BTNL3:uc003mmr.3:exon8:c.C945T:p.P315P, UNKNOWN Het;C>T 889;37|38 Het;C>T 851;28|35 Hom;C>T 2091;0|70 N N - 5 180470216 180470240 ATCTGTGTGTGTGTCTATGTGTGTG A indel intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs150770371 0 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;-TCTGTGTGTGTGTCTATGTGTGTG 491;5|13 Het;-TCTGTGTGTGTGTCTATGTGTGTG 114;5|4 Hom;-TCTGTGTGTGTGTCTATGTGTGTG 188;0|5 N N - 5 180470263 180470263 T A snp intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs78307330 0.49401 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;T>A 581;7|15 Het;T>A 153;10|5 Hom;T>A 377;0|8 N N - 5 180470266 180470266 C CTA indel intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs139144946 0.49401 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;+TA 572;7|15 Het;+TA 177;10|5 Hom;+TA 368;0|9 N N - 5 180470547 180470547 T G snp intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs6886923 0.489816 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;T>G 1202;72|45 Het;T>G 714;44|30 Hom;T>G 2124;1|67 N N - 5 180472498 180472498 C T snp synonymous SNV C9T D3D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs28677846 0.498203 0.5548 0.4911 1 0 0 exonic exonic exonic BTNL9 BTNL9 ENSG00000165810 synonymous SNV synonymous SNV unknown BTNL9:NM_152547:exon2:c.C9T:p.D3D, BTNL9:uc003mmt.3:exon2:c.C9T:p.D3D, UNKNOWN Het;C>T 972;68|48 Het;C>T 685;76|39 Hom;C>T 2223;0|79 N N - 5 180472513 180472513 A G snp synonymous SNV A24G P8P hydrophobic,neutral hydrophobic,neutral BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs6894087 0.505192 0.5620 0.4941 1 0 0 exonic exonic exonic BTNL9 BTNL9 ENSG00000165810 synonymous SNV synonymous SNV unknown BTNL9:NM_152547:exon2:c.A24G:p.P8P, BTNL9:uc003mmt.3:exon2:c.A24G:p.P8P, UNKNOWN Het;A>G 1142;74|53 Het;A>G 765;92|46 Hom;A>G 2528;0|94 N N - 5 180474814 180474814 C T snp intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs13359580 0.459465 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;C>T 77;7|3 Het;C>T 245;4|6 Hom;C>T 233;0|5 N N - 5 180474815 180474815 A G snp intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs3822409 0.481629 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;A>G 77;7|3 Het;A>G 245;4|7 Hom;A>G 233;0|6 N N - 5 180477449 180477449 C G snp intronic BTNL9 Btnl9 ENSG00000165810 butyrophilin like 9 chr5:180467225-180488523 Butyrophilin (BTN) family interactions GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTNL9 http://www.informatics.jax.org/searchtool/Search.do?query=BTNL9&submit=Quick%0D%11632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTNL9 rs7702426 0.459665 0 0 1 0 0 intronic intronic intronic BTNL9 BTNL9 ENSG00000165810 Na Na Na Na Na Na Het;C>G 489;32|23 Het;C>G 301;33|14 Hom;C>G 1349;0|46 N N - 5 180541186 180541186 T C snp ncRNA_exonic AC008620.2 rs7379817 0.422724 0 0 1 0 0 intergenic intergenic ncRNA_exonic BTNL9(dist=52663),OR2V1(dist=10171) TRNA_Val(dist=11861),OR2V1(dist=10171) ENSG00000248560 Na Na Na Na Na Na Het;T>C 538;24|22 Het;T>C 485;17|22 Hom;T>C 1742;0|65 N N - 5 18980333 18980333 C T snp ncRNA_intronic AC106744.1 rs62350765 0.35024 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC401177(dist=1592914),CDH18(dist=492822) BC028204(dist=1049735),CDH18(dist=492822) ENSG00000249174 Na Na Na Na Na Na Het;C>T 77;2|3 Het;C>T 130;9|5 Hom;C>T 286;0|8 N N - 5 18980389 18980389 T C snp ncRNA_intronic AC106744.1 rs62350766 0.350439 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC401177(dist=1592970),CDH18(dist=492766) BC028204(dist=1049791),CDH18(dist=492766) ENSG00000249174 Na Na Na Na Na Na Het;T>C 70;11|6 Het;T>C 605;16|25 Hom;T>C 1214;0|39 N N - 5 18980441 18980441 G A snp ncRNA_intronic AC106744.1 rs62350767 0.350839 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC401177(dist=1593022),CDH18(dist=492714) BC028204(dist=1049843),CDH18(dist=492714) ENSG00000249174 Na Na Na Na Na Na Het;G>A 195;21|12 Het;G>A 812;35|40 Hom;G>A 2873;0|106 N N - 5 18980521 18980521 C T snp ncRNA_intronic AC106744.1 rs62350781 0.35024 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC401177(dist=1593102),CDH18(dist=492634) BC028204(dist=1049923),CDH18(dist=492634) ENSG00000249174 Na Na Na Na Na Na Het;C>T 172;16|9 Het;C>T 622;40|31 Hom;C>T 3068;0|116 N N - 5 20702562 20702562 G GT indel ncRNA_intronic AK093362 rs199611031 0 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic CDH18(dist=126580),GUSBP1(dist=757027) AK093362 ENSG00000251629 Na Na Na Na Na Na Het;+T 125;16|11 Het;+T 493;8|26 Hom;+T 522;1|23 N N - 5 223415 223415 C T snp intronic SDHA Sdha ENSG00000073578 succinate dehydrogenase complex flavoprotein subunit A chr5:218356-256815 This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDHA https://www.uniprot.org/uniprot/P31040 https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600857 http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA rs6874572 0.653155 0 0 1 0 0 intronic intronic intronic SDHA SDHA ENSG00000073578 Na Na Na Na Na Na Het;C>T 287;7|8 Het;C>T 68;6|3 Hom;C>T 232;0|6 N N - 5 230778 230778 T C snp intronic SDHA Sdha ENSG00000073578 succinate dehydrogenase complex flavoprotein subunit A chr5:218356-256815 This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDHA https://www.uniprot.org/uniprot/P31040 https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600857 http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA rs10079760 0.256989 0 0 1 0 0 intronic intronic intronic SDHA SDHA ENSG00000073578 Na Na Na Na Na Na Het;T>C 120;3|4 Ref Hom;T>C 106;0|4 N N - 5 231111 231111 T C snp synonymous SNV T747C P249P hydrophobic,neutral hydrophobic,neutral SDHA Sdha ENSG00000073578 succinate dehydrogenase complex flavoprotein subunit A chr5:218356-256815 This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDHA https://www.uniprot.org/uniprot/P31040 https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600857 http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA rs1126417 0.653355 0.7687 0.7078 1 0 0 exonic exonic exonic SDHA SDHA ENSG00000073578 synonymous SNV synonymous SNV unknown SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_004168:exon7:c.T891C:p.P297P, SDHA:uc011clw.2:exon6:c.T747C:p.P249P,SDHA:uc011clv.1:exon7:c.T891C:p.P297P,SDHA:uc003jao.4:exon7:c.T891C:p.P297P,SDHA:uc003jaq.4:exon2:c.T216C:p.P72P,SDHA:uc021xvu.1:exon2:c.T216C:p.P72P, UNKNOWN Het;T>C 4146;150|178 Het;T>C 3308;132|153 Hom;T>C 10955;2|404 N N - 5 2462225 2462225 A G snp intergenic LOC100506858 rs11133949 0.608427 0 0 1 0 0 intergenic intergenic intergenic LOC100506858(dist=149910),IRX2(dist=284054) IRX4(dist=574932),IRX2(dist=284054) ENSG00000201026(dist=277291),ENSG00000259757(dist=274551) Na Na Na Na Na Na Het;A>G 147;5|7 Het;A>G 139;7|7 Hom;A>G 290;0|10 N N - 5 25190537 25190537 T C snp ncRNA_intronic LINC02228 rs376139386 0.140375 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC340107(dist=349845),CDH9(dist=1690172) LOC340107(dist=349845),TRNA_Lys(dist=1008002) ENSG00000251273 Na Na Na Na Na Na Het;T>C 2548;200|102 Ref Hom;T>C 4380;4|137 N N - 5 2564502 2564556 GGCTGGTGGTAACGCAGGGAGCACGGCGGCTGGCCGTAACGCAGGGAGCACTACA G indel intergenic LOC100506858 Na 0 0 0 1 0 0 intergenic intergenic intergenic LOC100506858(dist=252187),IRX2(dist=181723) IRX4(dist=677209),IRX2(dist=181723) ENSG00000201026(dist=379568),ENSG00000259757(dist=172220) Na Na Na Na Na Na Het;-GCTGGTGGTAACGCAGGGAGCACGGCGGCTGGCCGTAACGCAGGGAGCACTACA 210;2|6 Ref Hom;-GCTGGTGGTAACGCAGGGAGCACGGCGGCTGGCCGTAACGCAGGGAGCACTACA 198;0|6 N N - 5 264428 264428 T C snp intergenic SDHA Sdha ENSG00000073578 succinate dehydrogenase complex flavoprotein subunit A chr5:218356-256815 This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDHA https://www.uniprot.org/uniprot/P31040 https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600857 http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA rs6879656 0.202875 0 0 1 0 0 intergenic intergenic intergenic SDHA(dist=7231),LOC102467073(dist=5243) SDHA(dist=7614),PDCD6(dist=7308) ENSG00000073578(dist=7613),ENSG00000248925(dist=5545) Na Na Na Na Na Na Het;T>C 41;5|2 Ref Hom;T>C 197;0|5 N N - 5 264429 264429 C G snp intergenic SDHA Sdha ENSG00000073578 succinate dehydrogenase complex flavoprotein subunit A chr5:218356-256815 This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; spermatogenesis Citric acid cycle (TCA cycle) GO:0006099;tricarboxylic acid cycle;TAS|GO:0006105;succinate metabolic process;IDA|GO:0006121;mitochondrial electron transport, succinate to ubiquinone;IBA|GO:0007399;nervous system development;IMP|GO:0009061;anaerobic respiration;IBA|GO:0022900;electron transport chain;IEA|GO:0022904;respiratory electron transport chain;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005749;mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone);ISS|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA GO:0000104;succinate dehydrogenase activity;IMP|GO:0005515;protein binding;IPI|GO:0008177;succinate dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDHA https://www.uniprot.org/uniprot/P31040 https://hpo.jax.org/app/browse/search?q=SDHA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600857 http://www.informatics.jax.org/searchtool/Search.do?query=SDHA&submit=Quick%0D%1471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDHA rs6866632 0.220447 0 0 1 0 0 intergenic intergenic intergenic SDHA(dist=7232),LOC102467073(dist=5242) SDHA(dist=7615),PDCD6(dist=7307) ENSG00000073578(dist=7614),ENSG00000248925(dist=5544) Na Na Na Na Na Na Het;C>G 41;5|2 Ref Hom;C>G 197;0|5 N N - 5 271325 271325 T G snp upstream PDCD6 Pdcd6 ENSG00000249915 programmed cell death 6 chr5:271736-353971 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012] Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any developmental defects or immune dysfunction. GO:0001525;angiogenesis;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0006508;proteolysis;IEA|GO:0006886;intracellular protein transport;IDA|GO:0006888;ER to Golgi vesicle-mediated transport;IMP|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014029;neural crest formation;IMP|GO:0014032;neural crest cell development;IMP|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0032007;negative regulation of TOR signaling;IDA|GO:0034605;cellular response to heat;IDA|GO:0036324;vascular endothelial growth factor receptor-2 signaling pathway;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0048208;COPII vesicle coating;IMP|GO:0051592;response to calcium ion;IEA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0097190;apoptotic signaling pathway;TAS|GO:1902527;positive regulation of protein monoubiquitination;IMP GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030127;COPII vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IDA GO:0000287;magnesium ion binding;IEA|GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043495;protein anchor;IMP|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IPI|GO:0048306;calcium-dependent protein binding;IPI|GO:0060090;binding, bridging;IMP http://www.genecards.org/index.php?path=/Search/keyword/PDCD6 https://www.ncbi.nlm.nih.gov/omim/?term=601057 http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6&submit=Quick%0D%19939ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6 rs10061563 0.646765 0 0 1 0 0 ncRNA_intronic upstream ncRNA_intronic LOC102467073 PDCD6 ENSG00000248925 Na Na Na Na Na Na Het;T>G 50;2|2 Ref Hom;T>G 147;0|4 N N - 5 290422 290422 A C snp ncRNA_exonic AC021087.2 rs7731089 0.247804 0 0 1 0 0 intronic intronic ncRNA_exonic PDCD6 PDCD6 ENSG00000250848 Na Na Na Na Na Na Het;A>C 238;8|11 Ref Hom;A>C 64;0|3 N N - 5 29390220 29390220 T G snp ncRNA_intronic LOC101929681 rs13186326 0.688698 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929681 AK098570(dist=217755),CDH6(dist=1803542) ENSG00000248391 Na Na Na Na Na Na Het;T>G 233;2|7 Ref Hom;T>G 135;0|4 N N - 5 311478 311478 T C snp synonymous SNV T234C I78I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PDCD6 Pdcd6 ENSG00000249915 programmed cell death 6 chr5:271736-353971 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012] Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any developmental defects or immune dysfunction. GO:0001525;angiogenesis;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0006508;proteolysis;IEA|GO:0006886;intracellular protein transport;IDA|GO:0006888;ER to Golgi vesicle-mediated transport;IMP|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0014029;neural crest formation;IMP|GO:0014032;neural crest cell development;IMP|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0032007;negative regulation of TOR signaling;IDA|GO:0034605;cellular response to heat;IDA|GO:0036324;vascular endothelial growth factor receptor-2 signaling pathway;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0048208;COPII vesicle coating;IMP|GO:0051592;response to calcium ion;IEA|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0097190;apoptotic signaling pathway;TAS|GO:1902527;positive regulation of protein monoubiquitination;IMP GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030127;COPII vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IDA GO:0000287;magnesium ion binding;IEA|GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043495;protein anchor;IMP|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IPI|GO:0048306;calcium-dependent protein binding;IPI|GO:0060090;binding, bridging;IMP http://www.genecards.org/index.php?path=/Search/keyword/PDCD6 https://www.ncbi.nlm.nih.gov/omim/?term=601057 http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6&submit=Quick%0D%19939ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6 rs2244029 0.605631 0.7306 0.6527 1 0 0 exonic exonic exonic PDCD6 PDCD6 ENSG00000249915 synonymous SNV synonymous SNV unknown PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I, PDCD6:uc031sil.1:exon3:c.T234C:p.I78I,PDCD6:uc003jau.2:exon5:c.T432C:p.I144I,PDCD6:uc003jat.1:exon5:c.T438C:p.I146I,PDCD6:uc031sij.1:exon6:c.T228C:p.I76I, UNKNOWN Het;T>C 2770;126|122 Het;T>C 1707;97|79 Hom;T>C 5788;2|221 N N - 5 3177866 3177866 A G snp upstream LINC01377 rs251832 0.603435 0 0 1 0 0 upstream intergenic upstream LINC01377 C5orf38(dist=422355),LOC285577(dist=239400) ENSG00000249808 Na Na Na Na Na Na Het;A>G 369;5|9 Het;A>G 234;4|6 Hom;A>G 422;0|10 N N - 5 3177876 3177876 A G snp upstream LINC01377 rs251833 0.611621 0 0 1 0 0 upstream intergenic upstream LINC01377 C5orf38(dist=422365),LOC285577(dist=239390) ENSG00000249808 Na Na Na Na Na Na Het;A>G 450;6|13 Het;A>G 231;5|7 Hom;A>G 662;0|18 N N - 5 3178114 3178114 G A snp ncRNA_exonic LINC01377 rs251834 0.620607 0 0 1 0 0 ncRNA_exonic intergenic upstream LINC01377 C5orf38(dist=422603),LOC285577(dist=239152) ENSG00000249808 Na Na Na Na Na Na Het;G>A 2019;102|98 Het;G>A 1323;105|75 Hom;G>A 5410;0|201 N N - 5 3181201 3181201 G C snp ncRNA_exonic LINC01377 rs372169 0.460463 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01377 C5orf38(dist=425690),LOC285577(dist=236065) ENSG00000249808 Na Na Na Na Na Na Het;G>C 2036;118|89 Het;G>C 1446;77|68 Hom;G>C 3962;1|144 N N - 5 3217797 3217797 T TCA indel intergenic LINC01377 rs201416001 0.191494 0 0 1 0 0 intergenic intergenic intergenic LINC01377(dist=36451),LINC01019(dist=199469) C5orf38(dist=462286),LOC285577(dist=199469) ENSG00000249808(dist=36451),ENSG00000248118(dist=199469) Na Na Na Na Na Na Het;+CA 100;1|4 Ref Hom;+CA 115;0|4 N N - 5 33497649 33497650 CT C indel intergenic TARS Tars ENSG00000113407 threonyl-tRNA synthetase chr5:33440802-33469644 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008] Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006435;threonyl-tRNA aminoacylation;NAS|GO:0043039;tRNA aminoacylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0015629;actin cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/TARS https://www.uniprot.org/uniprot/P26639 https://www.ncbi.nlm.nih.gov/omim/?term=187790 http://www.informatics.jax.org/searchtool/Search.do?query=TARS&submit=Quick%0D%4361ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TARS rs564891056 0.564097 0 0 1 0 0 intergenic intergenic intergenic TARS(dist=29453),ADAMTS12(dist=29637) TARS(dist=29453),ADAMTS12(dist=29637) ENSG00000113407(dist=28005),ENSG00000249360(dist=4527) Na Na Na Na Na Na Het;-T 223;27|22 Het;-T 685;18|46 Hom;-T 761;3|42 N N - 5 3651148 3651148 T C snp intergenic IRX1 Irx1 ENSG00000170549 iroquois homeobox 1 chr5:3596168-3601517 This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] Celiac Disease|; Lipoproteins, VLDL; Myopia; Mental Disorders; Blood Pressure; Sleep; Body Height; Urinalysis; Myocardial Infarction; Neuroblastoma Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with delayed lung maturation, cyanosis, respiratory distress, atelectasis and decreased surfactant secretion, and show defects in dental epithelial cell differentiation and delayed growth of the lower incisors. GO:0001656;metanephros development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0072086;specification of loop of Henle identity;IEA|GO:0072272;proximal/distal pattern formation involved in metanephric nephron development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IRX1 https://www.ncbi.nlm.nih.gov/omim/?term=606197 http://www.informatics.jax.org/searchtool/Search.do?query=IRX1&submit=Quick%0D%12735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRX1 rs6895946 0.247604 0 0 1 0 0 intergenic intergenic intergenic IRX1(dist=49631),LOC101929153(dist=1122446) IRX1(dist=49631),BC034630(dist=1122473) ENSG00000170549(dist=49631),ENSG00000248962(dist=361674) Na Na Na Na Na Na Het;T>C 655;38|32 Het;T>C 647;42|35 Hom;T>C 1997;0|79 N N - 5 3651288 3651288 G T snp intergenic IRX1 Irx1 ENSG00000170549 iroquois homeobox 1 chr5:3596168-3601517 This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] Celiac Disease|; Lipoproteins, VLDL; Myopia; Mental Disorders; Blood Pressure; Sleep; Body Height; Urinalysis; Myocardial Infarction; Neuroblastoma Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with delayed lung maturation, cyanosis, respiratory distress, atelectasis and decreased surfactant secretion, and show defects in dental epithelial cell differentiation and delayed growth of the lower incisors. GO:0001656;metanephros development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0072086;specification of loop of Henle identity;IEA|GO:0072272;proximal/distal pattern formation involved in metanephric nephron development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IRX1 https://www.ncbi.nlm.nih.gov/omim/?term=606197 http://www.informatics.jax.org/searchtool/Search.do?query=IRX1&submit=Quick%0D%12735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRX1 rs35056429 0.142572 0 0 1 0 0 intergenic intergenic intergenic IRX1(dist=49771),LOC101929153(dist=1122306) IRX1(dist=49771),BC034630(dist=1122333) ENSG00000170549(dist=49771),ENSG00000248962(dist=361534) Na Na Na Na Na Na Het;G>T 195;10|9 Het;G>T 168;8|8 Hom;G>T 293;0|10 N N - 5 37561120 37561120 C T snp intronic WDR70 Wdr70 ENSG00000082068 WD repeat domain 70 chr5:37379314-37753537 Body Weight; Body Height; Magnesium; Brain; Tumor Necrosis Factor-alpha GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR70 https://www.uniprot.org/uniprot/Q9NW82 https://www.ncbi.nlm.nih.gov/omim/?term=617233 http://www.informatics.jax.org/searchtool/Search.do?query=WDR70&submit=Quick%0D%1789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR70 rs2101786 0.348642 0 0 1 0 0 intronic intronic intronic WDR70 WDR70 ENSG00000082068 Na Na Na Na Na Na Het;C>T 72;2|3 Ref Hom;C>T 164;0|5 N N - 5 38806907 38806907 G T snp ncRNA_intronic OSMR-AS1 rs2082162 0.430511 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic OSMR-AS1 BC045578(dist=135589),AK126213(dist=12897) ENSG00000249740 Na Na Na Na Na Na Het;G>T 131;4|6 Ref Hom;G>T 120;0|6 N N - 5 39674852 39674852 C G snp intergenic LOC101926940 rs13168697 0.284744 0 0 1 0 0 intergenic intergenic intergenic LOC101926940(dist=150042),LINC00603(dist=377541) BC026261(dist=212452),U1(dist=594808) ENSG00000251515(dist=102111),ENSG00000250492(dist=44234) Na Na Na Na Na Na Het;C>G 610;48|34 Het;C>G 837;41|39 Hom;C>G 2734;0|103 N N - 5 398696 398696 G A snp intronic AHRR Ahrr ENSG00000063438 aryl-hydrocarbon receptor repressor chr5:304291-438406 The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors. Aryl hydrocarbon receptor signalling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AHRR https://www.uniprot.org/uniprot/A9YTQ3 https://www.ncbi.nlm.nih.gov/omim/?term=606517 http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR rs11958189 0.106829 0 0 1 0 0 intronic intronic intronic AHRR AHRR ENSG00000063438 Na Na Na Na Na Na Het;G>A 86;3|5 Ref Hom;G>A 105;0|6 N N - 5 39924983 39924983 A T snp intergenic LOC101926940 rs529134 0 0 0 1 0 0 intergenic intergenic intergenic LOC101926940(dist=400173),LINC00603(dist=127410) BC026261(dist=462583),U1(dist=344677) ENSG00000248651(dist=35822),ENSG00000250048(dist=127410) Na Na Na Na Na Na Het;A>T 847;35|38 Het;A>T 895;39|43 Hom;A>T 2659;0|102 N N - 5 4001310 4001310 T C snp intergenic IRX1 Irx1 ENSG00000170549 iroquois homeobox 1 chr5:3596168-3601517 This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] Celiac Disease|; Lipoproteins, VLDL; Myopia; Mental Disorders; Blood Pressure; Sleep; Body Height; Urinalysis; Myocardial Infarction; Neuroblastoma Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with delayed lung maturation, cyanosis, respiratory distress, atelectasis and decreased surfactant secretion, and show defects in dental epithelial cell differentiation and delayed growth of the lower incisors. GO:0001656;metanephros development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0072086;specification of loop of Henle identity;IEA|GO:0072272;proximal/distal pattern formation involved in metanephric nephron development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IRX1 https://www.ncbi.nlm.nih.gov/omim/?term=606197 http://www.informatics.jax.org/searchtool/Search.do?query=IRX1&submit=Quick%0D%12735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRX1 rs4702312 0.835663 0 0 1 0 0 intergenic intergenic intergenic IRX1(dist=399793),LOC101929153(dist=772284) IRX1(dist=399793),BC034630(dist=772311) ENSG00000170549(dist=399793),ENSG00000248962(dist=11512) Na Na Na Na Na Na Het;T>C 471;14|15 Het;T>C 282;20|10 Hom;T>C 860;0|23 N N - 5 4001355 4001355 G A snp intergenic IRX1 Irx1 ENSG00000170549 iroquois homeobox 1 chr5:3596168-3601517 This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] Celiac Disease|; Lipoproteins, VLDL; Myopia; Mental Disorders; Blood Pressure; Sleep; Body Height; Urinalysis; Myocardial Infarction; Neuroblastoma Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with delayed lung maturation, cyanosis, respiratory distress, atelectasis and decreased surfactant secretion, and show defects in dental epithelial cell differentiation and delayed growth of the lower incisors. GO:0001656;metanephros development;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0072086;specification of loop of Henle identity;IEA|GO:0072272;proximal/distal pattern formation involved in metanephric nephron development;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IRX1 https://www.ncbi.nlm.nih.gov/omim/?term=606197 http://www.informatics.jax.org/searchtool/Search.do?query=IRX1&submit=Quick%0D%12735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRX1 rs10058753 0.683107 0 0 1 0 0 intergenic intergenic intergenic IRX1(dist=399838),LOC101929153(dist=772239) IRX1(dist=399838),BC034630(dist=772266) ENSG00000170549(dist=399838),ENSG00000248962(dist=11467) Na Na Na Na Na Na Het;G>A 122;9|6 Het;G>A 94;8|5 Hom;G>A 469;0|13 N N - 5 42769647 42769647 T C snp intronic CCDC152 Ccdc152 ENSG00000198865 coiled-coil domain containing 152 chr5:42756903-42802462 http://www.genecards.org/index.php?path=/Search/keyword/CCDC152 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC152&submit=Quick%0D%17052ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC152 rs12055266 0.198083 0.1829 0 1 0 0 intronic intronic intronic CCDC152 CCDC152 ENSG00000198865 Na Na Na Na Na Na Het;T>C 127;4|6 Het;T>C 129;14|7 Hom;T>C 799;0|27 N N - 5 43555824 43555824 T A snp intronic PAIP1 Paip1 ENSG00000172239 poly(A) binding protein interacting protein 1 chr5:43526369-43557860 The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] Coronary Artery Disease Deadenylation of mRNA GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0006413;translational initiation;TAS|GO:0006417;regulation of translation;IEA|GO:0045727;positive regulation of translation;IEA|GO:0048255;mRNA stabilization;TAS GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008494;translation activator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAIP1 https://www.ncbi.nlm.nih.gov/omim/?term=605184 http://www.informatics.jax.org/searchtool/Search.do?query=PAIP1&submit=Quick%0D%13112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAIP1 rs187245870 0.000998403 0 0 1 0 0 intronic intronic intronic PAIP1 PAIP1 ENSG00000172239 Na Na Na Na Na Na Het;T>A 64;1|4 Ref Hom;T>A 109;0|5 N N - 5 4925090 4925090 G C snp intergenic LOC101929153 rs619001 0.310503 0 0 1 0 0 intergenic intergenic intergenic LOC101929153(dist=150112),LINC01020(dist=109382) BC034630(dist=150112),LOC340094(dist=109382) ENSG00000249941(dist=50218),ENSG00000251506(dist=42787) Na Na Na Na Na Na Het;G>C 267;15|12 Het;G>C 235;10|9 Hom;G>C 713;0|21 N N - 5 5057954 5057954 T C snp ncRNA_exonic LINC01020 rs187967 0.650359 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC01020 LOC340094 ENSG00000215231 Na Na Na Na Na Na Het;T>C 370;14|15 Het;T>C 310;12|14 Hom;T>C 1244;0|41 N N - 5 5067870 5067870 A G snp ncRNA_intronic LOC340094 rs270646 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01020 LOC340094 ENSG00000215231 Na Na Na Na Na Na Het;A>G 335;14|14 Het;A>G 200;2|6 Hom;A>G 433;0|14 N N - 5 5078238 5078238 A G snp ncRNA_intronic LINC02121 rs272183 0.333666 0 0 1 0 0 intergenic intergenic ncRNA_intronic LINC01020(dist=8123),CTD-2297D10.2(dist=53960) LOC340094(dist=8123),AK094462(dist=53962) ENSG00000250529 Na Na Na Na Na Na Het;A>G 449;9|16 Het;A>G 283;6|11 Hom;A>G 1106;0|37 N N - 5 5132429 5132429 A ATCCATACACACACATTTGCATTACACAACTGCTTTACATTACAGATAGACG indel ncRNA_exonic CTD-2297D10.2 rs70965923 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic downstream CTD-2297D10.2 AK094462 ENSG00000250579 Na Na Na Na Na Na Het;+TCCATACACACACATTTGCATTACACAACTGCTTTACATTACAGATAGACG 4024;92|77 Het;+TCCATACACACACATTTGCATTACACAACTGCTTTACATTACAGATAGACG 4599;74|73 Hom;+TCCATACACACACATTTGCATTACACAACTGCTTTACATTACAGATAGACG 15146;1|234 N N - 5 5140141 5140141 G T snp ncRNA_exonic CTD-2297D10.2 rs270210 0.0878594 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic CTD-2297D10.2 ADAMTS16 ENSG00000250579 Na Na Na Na Na Na Het;G>T 396;14|20 Het;G>T 360;14|19 Hom;G>T 343;1|14 N N - 5 5146223 5146223 G C snp ncRNA_intronic AC022424.2 rs1871468 0.793131 0.8272 0.8350 1 0 0 intronic intronic ncRNA_intronic ADAMTS16 ADAMTS16 ENSG00000250866 Na Na Na Na Na Na Het;G>C 594;13|22 Het;G>C 447;10|13 Hom;G>C 1004;0|29 N N - 5 5146335 5146335 C G snp nonsynonymous SNV C268G P90A hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTS16 Adamts16 ENSG00000145536 ADAM metallopeptidase with thrombospondin type 1 motif 16 chr5:5140443-5320417 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016] Attention Deficit Disorder with Hyperactivity; Metabolism; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Amyotrophic Lateral Sclerosis; Parkinson Disease O-glycosylation of TSR domain-containing proteins GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0006508;proteolysis;IEA|GO:1902017;regulation of cilium assembly;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS16 https://www.uniprot.org/uniprot/Q8TE57 https://www.ncbi.nlm.nih.gov/omim/?term=607510 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS16&submit=Quick%0D%8751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS16 rs2086310 0.695487 0.7592 0.7760 0.08 1 13 exonic exonic exonic ADAMTS16 ADAMTS16 ENSG00000145536 nonsynonymous SNV nonsynonymous SNV unknown ADAMTS16:NM_139056:exon3:c.C268G:p.P90A, ADAMTS16:uc003jdk.1:exon3:c.C268G:p.P90A,ADAMTS16:uc003jdl.3:exon3:c.C268G:p.P90A,ADAMTS16:uc003jdj.1:exon3:c.C268G:p.P90A, UNKNOWN Het;C>G 1398;75|59 Het;C>G 1276;51|56 Hom;C>G 3418;0|117 N N - 5 52338276 52338276 T C snp intronic ITGA2 Itga2 ENSG00000164171 integrin subunit alpha 2 chr5:52285156-52390609 This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Migraine Disorders; platelet alpha2 beta1 density; Coronary Artery Disease; myocardial infarction; angina; metabolism disorders; myocardial infarction; stroke, ischemic; Amyotrophic Lateral Sclerosis|; thrombosis, deep vein; Behcet's disease; platelet alpha(2)beta(1), densities of; breast cancer; atherosclerosis; preeclampsia; hypertension, gestational; Apoplexy|Stroke; thrombocytopenia; colorectal cancer; myocardial infarction; sudden cardiac death; Hemolytic-Uremic Syndrome; Kidney Failure, Chronic; Thrombocytopenia; intima-media thickness; carotid plaque; myocardial infarct; atherosclerosis, coronary; diabetes, type 2; Type 2 Diabetes| edema | rosiglitazone; bleeding complications; thrombocytopenic purpura, iimmune; prostate cancer; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa; oral cancer; myocardial infarction; stroke, ischemic; Type 2 diabetes; limb deficiency anomalies; coronary heart disease; thromboembolism, venous; myocardial infarct; lymphoproliferative disorders; restenosis; Alzheimer's disease ; Hemorrhagic Disorders; Hemorrhage; cerebrovascular disease; sickle cell anemia; platelet reactivity; Brain Ischemia|; brain hemorrhage; thrombus formation, arterial; atherosclerosis, coronary; hematology indices; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; heart disease, ischemic; myocardial infarction; sudden cardiac death; variation in platelet integrin alpha 2 beta 1 density; normal variation; Atrial Fibrillation|Stroke; myocardial infarct; Apoplexy|Recurrence|Stroke; Vascular Diseases; vaso-occlusive crisis; pregnancy loss, recurrent; fetal loss; gingival overgrowth, drug induced; Glomerulonephritis, IGA; von Willebrand Disease|von Willebrand Diseases; myocardial infarction; aspirin sensitivity; diabetic retinopathy; blood transfusion complications; Thrombosis; thrombosis; fatal coronary events; Behcet's Disease; thromboembolic disease; coronary artery stent thrombosis; Recurrence|Venous Thromboembolism; atherosclerosis, generalized; nephropathy; Acute Coronary Syndrome|; acute coronary syndrome; Brain Ischemia|Hypertension|Osteoporosis|Stroke; cardiovascular mortality; Chronic renal failure|Kidney Failure, Chronic; longevity; esophageal adenocarcinoma; Brain Ischemia|Stroke; stroke, ischemic; Cardiovascular Diseases|; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; platelet aggregation; retinal vascular occlusion; Vascular Disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; patent ductus arteriosus; myocardial infarction; stroke; null; atherosclerosis, coronary; restenosis; stroke; coronary artery disease; myocardial infarct; cholesterol, HDL; Coronary Disease; Alcoholism; coronary disease; hypertension; bone marrow transplantation; premature myocardial infarction in men. Homozygotes for targeted null mutations were viable, fertile, showed no overt anatomical defects, and exhibited no bleeding anomalies. Platelet, primary fibroblast and keratinocytes from homozygous mutant mice show less efficient adhesion to collagens in vitro. MET activates PTK2 signaling GO:0001666;response to hypoxia;IEA|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0006929;substrate-dependent cell migration;IMP|GO:0006971;hypotonic response;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;TAS|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007565;female pregnancy;IEA|GO:0007596;blood coagulation;TAS|GO:0008283;cell proliferation;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010694;positive regulation of alkaline phosphatase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014075;response to amine;IEA|GO:0014850;response to muscle activity;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030879;mammary gland development;IEA|GO:0031346;positive regulation of cell projection organization;IEA|GO:0031589;cell-substrate adhesion;IMP|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033343;positive regulation of collagen binding;IEA|GO:0033591;response to L-ascorbic acid;IEA|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP|GO:0042060;wound healing;IEA|GO:0042493;response to drug;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043589;skin morphogenesis;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045727;positive regulation of translation;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045987;positive regulation of smooth muscle contraction;IEA|GO:0046718;viral entry into host cell;IEA|GO:0048041;focal adhesion assembly;IEA|GO:0048333;mesodermal cell differentiation;IEP|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050927;positive regulation of positive chemotaxis;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060100;positive regulation of phagocytosis, engulfment;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071107;response to parathyroid hormone;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0034666;integrin alpha2-beta1 complex;IDA|GO:0042995;cell projection;IEA|GO:0043679;axon terminus;IEA|GO:0045178;basal part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0032403;protein complex binding;IPI|GO:0038064;collagen receptor activity;IMP|GO:0043236;laminin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP http://www.genecards.org/index.php?path=/Search/keyword/ITGA2 https://hpo.jax.org/app/browse/search?q=ITGA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=192974 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2&submit=Quick%0D%11230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2 rs1316250 0.277556 0 0 1 0 0 intronic intronic intronic ITGA2 ITGA2 ENSG00000164171 Na Na Na Na Na Na Het;T>C 132;1|4 Ref Hom;T>C 135;0|4 N N - 5 52388454 52388455 TA T indel UTR3 *2025_*2026delinsT ITGA2 Itga2 ENSG00000164171 integrin subunit alpha 2 chr5:52285156-52390609 This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Migraine Disorders; platelet alpha2 beta1 density; Coronary Artery Disease; myocardial infarction; angina; metabolism disorders; myocardial infarction; stroke, ischemic; Amyotrophic Lateral Sclerosis|; thrombosis, deep vein; Behcet's disease; platelet alpha(2)beta(1), densities of; breast cancer; atherosclerosis; preeclampsia; hypertension, gestational; Apoplexy|Stroke; thrombocytopenia; colorectal cancer; myocardial infarction; sudden cardiac death; Hemolytic-Uremic Syndrome; Kidney Failure, Chronic; Thrombocytopenia; intima-media thickness; carotid plaque; myocardial infarct; atherosclerosis, coronary; diabetes, type 2; Type 2 Diabetes| edema | rosiglitazone; bleeding complications; thrombocytopenic purpura, iimmune; prostate cancer; Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis; double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa; oral cancer; myocardial infarction; stroke, ischemic; Type 2 diabetes; limb deficiency anomalies; coronary heart disease; thromboembolism, venous; myocardial infarct; lymphoproliferative disorders; restenosis; Alzheimer's disease ; Hemorrhagic Disorders; Hemorrhage; cerebrovascular disease; sickle cell anemia; platelet reactivity; Brain Ischemia|; brain hemorrhage; thrombus formation, arterial; atherosclerosis, coronary; hematology indices; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; heart disease, ischemic; myocardial infarction; sudden cardiac death; variation in platelet integrin alpha 2 beta 1 density; normal variation; Atrial Fibrillation|Stroke; myocardial infarct; Apoplexy|Recurrence|Stroke; Vascular Diseases; vaso-occlusive crisis; pregnancy loss, recurrent; fetal loss; gingival overgrowth, drug induced; Glomerulonephritis, IGA; von Willebrand Disease|von Willebrand Diseases; myocardial infarction; aspirin sensitivity; diabetic retinopathy; blood transfusion complications; Thrombosis; thrombosis; fatal coronary events; Behcet's Disease; thromboembolic disease; coronary artery stent thrombosis; Recurrence|Venous Thromboembolism; atherosclerosis, generalized; nephropathy; Acute Coronary Syndrome|; acute coronary syndrome; Brain Ischemia|Hypertension|Osteoporosis|Stroke; cardiovascular mortality; Chronic renal failure|Kidney Failure, Chronic; longevity; esophageal adenocarcinoma; Brain Ischemia|Stroke; stroke, ischemic; Cardiovascular Diseases|; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; platelet aggregation; retinal vascular occlusion; Vascular Disease; Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis; patent ductus arteriosus; myocardial infarction; stroke; null; atherosclerosis, coronary; restenosis; stroke; coronary artery disease; myocardial infarct; cholesterol, HDL; Coronary Disease; Alcoholism; coronary disease; hypertension; bone marrow transplantation; premature myocardial infarction in men. Homozygotes for targeted null mutations were viable, fertile, showed no overt anatomical defects, and exhibited no bleeding anomalies. Platelet, primary fibroblast and keratinocytes from homozygous mutant mice show less efficient adhesion to collagens in vitro. MET activates PTK2 signaling GO:0001666;response to hypoxia;IEA|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0006929;substrate-dependent cell migration;IMP|GO:0006971;hypotonic response;IEA|GO:0007155;cell adhesion;TAS|GO:0007160;cell-matrix adhesion;TAS|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007565;female pregnancy;IEA|GO:0007596;blood coagulation;TAS|GO:0008283;cell proliferation;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0010694;positive regulation of alkaline phosphatase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014075;response to amine;IEA|GO:0014850;response to muscle activity;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030879;mammary gland development;IEA|GO:0031346;positive regulation of cell projection organization;IEA|GO:0031589;cell-substrate adhesion;IMP|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0033343;positive regulation of collagen binding;IEA|GO:0033591;response to L-ascorbic acid;IEA|GO:0033627;cell adhesion mediated by integrin;IMP|GO:0038065;collagen-activated signaling pathway;IMP|GO:0042060;wound healing;IEA|GO:0042493;response to drug;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043589;skin morphogenesis;IEA|GO:0045184;establishment of protein localization;IEA|GO:0045727;positive regulation of translation;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045987;positive regulation of smooth muscle contraction;IEA|GO:0046718;viral entry into host cell;IEA|GO:0048041;focal adhesion assembly;IEA|GO:0048333;mesodermal cell differentiation;IEP|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050927;positive regulation of positive chemotaxis;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060100;positive regulation of phagocytosis, engulfment;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071107;response to parathyroid hormone;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0034666;integrin alpha2-beta1 complex;IDA|GO:0042995;cell projection;IEA|GO:0043679;axon terminus;IEA|GO:0045178;basal part of cell;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001618;virus receptor activity;IEA|GO:0005178;integrin binding;IEA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0032403;protein complex binding;IPI|GO:0038064;collagen receptor activity;IMP|GO:0043236;laminin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0098639;collagen binding involved in cell-matrix adhesion;IMP http://www.genecards.org/index.php?path=/Search/keyword/ITGA2 https://hpo.jax.org/app/browse/search?q=ITGA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=192974 http://www.informatics.jax.org/searchtool/Search.do?query=ITGA2&submit=Quick%0D%11230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGA2 rs35863692 0.285343 0 0 1 0 0 UTR3 UTR3 UTR3 ITGA2(NM_002203:c.*2025_*2026delinsT) ITGA2(uc003joy.3:c.*2025_*2026delinsT,uc011cqc.2:c.*2025_*2026delinsT) ENSG00000164171(ENST00000296585:c.*2025_*2026delinsT) Na Na Na Na Na Na Het;-A 1119;10|64 Ref Hom;-A 1117;4|57 N N - 5 57667368 57667368 T A snp intergenic LOC101928569 rs10056498 0.279752 0 0 1 0 0 intergenic intergenic intergenic LOC101928569(dist=249200),PLK2(dist=82442) Mir_562(dist=212540),PLK2(dist=82442) ENSG00000248271(dist=209789),ENSG00000145632(dist=82441) Na Na Na Na Na Na Het;T>A 110;6|5 Het;T>A 237;9|10 Hom;T>A 951;0|29 N N - 5 57754004 57754004 C T snp UTR3 *106G>A PLK2 Plk2 ENSG00000145632 polo like kinase 2 chr5:57749809-57756087 The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] kidney aging; breast cancer Inactivation of this gene results in impaired embryonic growth and placental defects due to increased cell proliferation. TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0000278;mitotic cell cycle;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007052;mitotic spindle organization;IDA|GO:0007093;mitotic cell cycle checkpoint;ISS|GO:0007265;Ras protein signal transduction;ISS|GO:0007613;memory;ISS|GO:0010508;positive regulation of autophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032092;positive regulation of protein binding;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032486;Rap protein signal transduction;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046599;regulation of centriole replication;IDA|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060291;long-term synaptic potentiation;ISS|GO:0060292;long term synaptic depression;ISS|GO:0061000;negative regulation of dendritic spine development;IEA GO:0000785;chromatin;IEA|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0043008;ATP-dependent protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLK2 https://www.uniprot.org/uniprot/Q9NYY3 https://www.ncbi.nlm.nih.gov/omim/?term=607023 http://www.informatics.jax.org/searchtool/Search.do?query=PLK2&submit=Quick%0D%8759ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLK2 rs697135 0.422324 0.5076 0.4229 1 0 0 intronic UTR3 intronic PLK2 PLK2(uc011cql.1:c.*106G>A) ENSG00000145632 Na Na Na Na Na Na Het;C>T 500;33|23 Het;C>T 666;38|32 Hom;C>T 2619;0|95 N N - 5 57755843 57755843 C T snp UTR5 -57G>A PLK2 Plk2 ENSG00000145632 polo like kinase 2 chr5:57749809-57756087 The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] kidney aging; breast cancer Inactivation of this gene results in impaired embryonic growth and placental defects due to increased cell proliferation. TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0000278;mitotic cell cycle;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007052;mitotic spindle organization;IDA|GO:0007093;mitotic cell cycle checkpoint;ISS|GO:0007265;Ras protein signal transduction;ISS|GO:0007613;memory;ISS|GO:0010508;positive regulation of autophagy;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0032092;positive regulation of protein binding;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0032486;Rap protein signal transduction;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045732;positive regulation of protein catabolic process;IDA|GO:0046599;regulation of centriole replication;IDA|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060291;long-term synaptic potentiation;ISS|GO:0060292;long term synaptic depression;ISS|GO:0061000;negative regulation of dendritic spine development;IEA GO:0000785;chromatin;IEA|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0043008;ATP-dependent protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLK2 https://www.uniprot.org/uniprot/Q9NYY3 https://www.ncbi.nlm.nih.gov/omim/?term=607023 http://www.informatics.jax.org/searchtool/Search.do?query=PLK2&submit=Quick%0D%8759ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLK2 rs15915 0.0836661 0 0 1 0 0 UTR5 UTR5 UTR5 PLK2(NM_001252226:c.-57G>A,NM_006622:c.-57G>A) PLK2(uc021xyx.1:c.-57G>A,uc003jrn.3:c.-57G>A) ENSG00000145632(ENST00000274289:c.-57G>A) Na Na Na Na Na Na Het;C>T 251;14|13 Het;C>T 308;16|13 Hom;C>T 658;0|23 N N - 5 58285813 58285813 T TA indel intronic PDE4D Pde4d ENSG00000113448 phosphodiesterase 4D chr5:58264865-59817947 This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] bone density; Cystatins; Cholesterol, HDL; Apolipoprotein A-I; asthma; Brain Ischemia|Hypertension|Stroke; Body Height; Neurotic Disorders; Alcoholism; schizophrenia; Apoplexy|Myocardial ischemia|Stroke; Kidney Failure, Chronic; Thyroid Diseases; Diabetes Mellitus; Brain Ischemia|Stroke; obesity|asthma; stroke, ischemic; atherosclerosis; Triglycerides; Sleep; Hip; Mental Competency; Blood Coagulation Factors; Echocardiography; chronic obstructive pulmonary disease/COPD; neuroticism; Cholesterol, LDL; Cerebral Palsy|; Body Composition; stroke; Brain Ischemia|Intracranial Hemorrhages|Stroke; Cerebrovascular Disorders; Esophageal Neoplasms; Brain Ischemia|Cerebral Infarction; Angina, Unstable|Coronary Stenosis|Inflammation|Myocardial Infarction; Tobacco Use Disorder; Asthma|; Brain Ischemia|Diabetes Mellitus|Intracranial Arteriosclerosis|Stroke; Stroke; stroke, ischemic; atherosclerosis, carotid; sleepiness; Type 2 Diabetes| edema | rosiglitazone; Peroxidase; ischemic stroke; Cholesterol; Calcium-Binding Proteins; metabolic syndrome; Apoplexy|Brain Ischemia|Stroke; Asthma; brain infarction; Apoplexy|Stroke; Hypertension/complications*; Apolipoproteins B Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. G alpha (s) signalling events GO:0002027;regulation of heart rate;ISS|GO:0006198;cAMP catabolic process;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007568;aging;IEA|GO:0010469;regulation of receptor activity;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0030814;regulation of cAMP metabolic process;IEA|GO:0032729;positive regulation of interferon-gamma production;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0032754;positive regulation of interleukin-5 production;IMP|GO:0033137;negative regulation of peptidyl-serine phosphorylation;ISS|GO:0035264;multicellular organism growth;IEA|GO:0045822;negative regulation of heart contraction;ISS|GO:0050852;T cell receptor signaling pathway;IMP|GO:0050900;leukocyte migration;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0071875;adrenergic receptor signaling pathway;ISS|GO:0086004;regulation of cardiac muscle cell contraction;ISS|GO:0086024;adrenergic receptor signaling pathway involved in positive regulation of heart rate;IC|GO:1901844;regulation of cell communication by electrical coupling involved in cardiac conduction;IC|GO:1901898;negative regulation of relaxation of cardiac muscle;ISS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034704;calcium channel complex;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0030552;cAMP binding;IDA|GO:0031698;beta-2 adrenergic receptor binding;ISS|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IPI|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDE4D https://www.uniprot.org/uniprot/Q08499 https://hpo.jax.org/app/browse/search?q=PDE4D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600129 http://www.informatics.jax.org/searchtool/Search.do?query=PDE4D&submit=Quick%0D%4364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4D rs11373971 0.676717 0 0 1 0 0 intronic intronic intronic PDE4D PDE4D ENSG00000113448 Na Na Na Na Na Na Het;+A 63;9|6 Het;+A 124;2|7 Hom;+A 187;0|9 N N - 5 58286836 58286836 A G snp intronic PDE4D Pde4d ENSG00000113448 phosphodiesterase 4D chr5:58264865-59817947 This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] bone density; Cystatins; Cholesterol, HDL; Apolipoprotein A-I; asthma; Brain Ischemia|Hypertension|Stroke; Body Height; Neurotic Disorders; Alcoholism; schizophrenia; Apoplexy|Myocardial ischemia|Stroke; Kidney Failure, Chronic; Thyroid Diseases; Diabetes Mellitus; Brain Ischemia|Stroke; obesity|asthma; stroke, ischemic; atherosclerosis; Triglycerides; Sleep; Hip; Mental Competency; Blood Coagulation Factors; Echocardiography; chronic obstructive pulmonary disease/COPD; neuroticism; Cholesterol, LDL; Cerebral Palsy|; Body Composition; stroke; Brain Ischemia|Intracranial Hemorrhages|Stroke; Cerebrovascular Disorders; Esophageal Neoplasms; Brain Ischemia|Cerebral Infarction; Angina, Unstable|Coronary Stenosis|Inflammation|Myocardial Infarction; Tobacco Use Disorder; Asthma|; Brain Ischemia|Diabetes Mellitus|Intracranial Arteriosclerosis|Stroke; Stroke; stroke, ischemic; atherosclerosis, carotid; sleepiness; Type 2 Diabetes| edema | rosiglitazone; Peroxidase; ischemic stroke; Cholesterol; Calcium-Binding Proteins; metabolic syndrome; Apoplexy|Brain Ischemia|Stroke; Asthma; brain infarction; Apoplexy|Stroke; Hypertension/complications*; Apolipoproteins B Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. G alpha (s) signalling events GO:0002027;regulation of heart rate;ISS|GO:0006198;cAMP catabolic process;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007568;aging;IEA|GO:0010469;regulation of receptor activity;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0030814;regulation of cAMP metabolic process;IEA|GO:0032729;positive regulation of interferon-gamma production;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0032754;positive regulation of interleukin-5 production;IMP|GO:0033137;negative regulation of peptidyl-serine phosphorylation;ISS|GO:0035264;multicellular organism growth;IEA|GO:0045822;negative regulation of heart contraction;ISS|GO:0050852;T cell receptor signaling pathway;IMP|GO:0050900;leukocyte migration;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0071875;adrenergic receptor signaling pathway;ISS|GO:0086004;regulation of cardiac muscle cell contraction;ISS|GO:0086024;adrenergic receptor signaling pathway involved in positive regulation of heart rate;IC|GO:1901844;regulation of cell communication by electrical coupling involved in cardiac conduction;IC|GO:1901898;negative regulation of relaxation of cardiac muscle;ISS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034704;calcium channel complex;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0030552;cAMP binding;IDA|GO:0031698;beta-2 adrenergic receptor binding;ISS|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IPI|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDE4D https://www.uniprot.org/uniprot/Q08499 https://hpo.jax.org/app/browse/search?q=PDE4D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600129 http://www.informatics.jax.org/searchtool/Search.do?query=PDE4D&submit=Quick%0D%4364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4D rs1973451 0.841054 0 0 1 0 0 intronic intronic intronic PDE4D PDE4D ENSG00000113448 Na Na Na Na Na Na Het;A>G 35;4|2 Ref Hom;A>G 175;0|5 N N - 5 58295380 58295380 G GTA indel UTR5 -17C>TAC PDE4D Pde4d ENSG00000113448 phosphodiesterase 4D chr5:58264865-59817947 This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] bone density; Cystatins; Cholesterol, HDL; Apolipoprotein A-I; asthma; Brain Ischemia|Hypertension|Stroke; Body Height; Neurotic Disorders; Alcoholism; schizophrenia; Apoplexy|Myocardial ischemia|Stroke; Kidney Failure, Chronic; Thyroid Diseases; Diabetes Mellitus; Brain Ischemia|Stroke; obesity|asthma; stroke, ischemic; atherosclerosis; Triglycerides; Sleep; Hip; Mental Competency; Blood Coagulation Factors; Echocardiography; chronic obstructive pulmonary disease/COPD; neuroticism; Cholesterol, LDL; Cerebral Palsy|; Body Composition; stroke; Brain Ischemia|Intracranial Hemorrhages|Stroke; Cerebrovascular Disorders; Esophageal Neoplasms; Brain Ischemia|Cerebral Infarction; Angina, Unstable|Coronary Stenosis|Inflammation|Myocardial Infarction; Tobacco Use Disorder; Asthma|; Brain Ischemia|Diabetes Mellitus|Intracranial Arteriosclerosis|Stroke; Stroke; stroke, ischemic; atherosclerosis, carotid; sleepiness; Type 2 Diabetes| edema | rosiglitazone; Peroxidase; ischemic stroke; Cholesterol; Calcium-Binding Proteins; metabolic syndrome; Apoplexy|Brain Ischemia|Stroke; Asthma; brain infarction; Apoplexy|Stroke; Hypertension/complications*; Apolipoproteins B Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. G alpha (s) signalling events GO:0002027;regulation of heart rate;ISS|GO:0006198;cAMP catabolic process;IDA|GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007568;aging;IEA|GO:0010469;regulation of receptor activity;ISS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;ISS|GO:0019933;cAMP-mediated signaling;NAS|GO:0030593;neutrophil chemotaxis;IEA|GO:0030814;regulation of cAMP metabolic process;IEA|GO:0032729;positive regulation of interferon-gamma production;IMP|GO:0032743;positive regulation of interleukin-2 production;IMP|GO:0032754;positive regulation of interleukin-5 production;IMP|GO:0033137;negative regulation of peptidyl-serine phosphorylation;ISS|GO:0035264;multicellular organism growth;IEA|GO:0045822;negative regulation of heart contraction;ISS|GO:0050852;T cell receptor signaling pathway;IMP|GO:0050900;leukocyte migration;IEA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0061028;establishment of endothelial barrier;ISS|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071872;cellular response to epinephrine stimulus;IEA|GO:0071875;adrenergic receptor signaling pathway;ISS|GO:0086004;regulation of cardiac muscle cell contraction;ISS|GO:0086024;adrenergic receptor signaling pathway involved in positive regulation of heart rate;IC|GO:1901844;regulation of cell communication by electrical coupling involved in cardiac conduction;IC|GO:1901898;negative regulation of relaxation of cardiac muscle;ISS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;ISS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034704;calcium channel complex;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;NAS|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0008144;drug binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;ISS|GO:0030552;cAMP binding;IDA|GO:0031698;beta-2 adrenergic receptor binding;ISS|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051117;ATPase binding;IPI|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDE4D https://www.uniprot.org/uniprot/Q08499 https://hpo.jax.org/app/browse/search?q=PDE4D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600129 http://www.informatics.jax.org/searchtool/Search.do?query=PDE4D&submit=Quick%0D%4364ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4D rs35776313 0 0 0.3297 1 0 0 UTR5 UTR5 UTR5 PDE4D(NM_001197223:c.-17C>TAC) PDE4D(uc003jrs.2:c.-17C>TAC) ENSG00000113448(ENST00000317118:c.-17C>TAC) Na Na Na Na Na Na Het;+TA 540;32|22 Het;+TA 1403;7|43 Hom;+TA 2335;2|70 N N - 5 59899413 59899413 G A snp intronic DEPDC1B Depdc1b ENSG00000035499 DEP domain containing 1B chr5:59892739-59996017 Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0016477;cell migration;IMP|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DEPDC1B https://www.uniprot.org/uniprot/Q8WUY9 https://www.ncbi.nlm.nih.gov/omim/?term=616073 http://www.informatics.jax.org/searchtool/Search.do?query=DEPDC1B&submit=Quick%0D%771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEPDC1B rs11740327 0.411941 0.4537 0.5018 1 0 0 intronic intronic intronic DEPDC1B DEPDC1B ENSG00000035499 Na Na Na Na Na Na Het;G>A 744;23|30 Het;G>A 569;26|27 Hom;G>A 1617;0|63 N N - 5 59956784 59956784 G C snp intronic DEPDC1B Depdc1b ENSG00000035499 DEP domain containing 1B chr5:59892739-59996017 Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0016477;cell migration;IMP|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DEPDC1B https://www.uniprot.org/uniprot/Q8WUY9 https://www.ncbi.nlm.nih.gov/omim/?term=616073 http://www.informatics.jax.org/searchtool/Search.do?query=DEPDC1B&submit=Quick%0D%771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEPDC1B rs11956023 0.419529 0 0 1 0 0 intronic intronic intronic DEPDC1B DEPDC1B ENSG00000035499 Na Na Na Na Na Na Het;G>C 185;4|6 Het;G>C 80;3|5 Hom;G>C 178;0|7 N N - 5 59995820 59995820 G C snp intronic DEPDC1B Depdc1b ENSG00000035499 DEP domain containing 1B chr5:59892739-59996017 Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0016477;cell migration;IMP|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DEPDC1B https://www.uniprot.org/uniprot/Q8WUY9 https://www.ncbi.nlm.nih.gov/omim/?term=616073 http://www.informatics.jax.org/searchtool/Search.do?query=DEPDC1B&submit=Quick%0D%771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEPDC1B rs9942410 0 0 0 1 0 0 intronic intronic intronic DEPDC1B DEPDC1B ENSG00000035499 Na Na Na Na Na Na Het;G>C 449;6|17 Het;G>C 117;8|7 Hom;G>C 820;0|32 N N - 5 60083275 60083275 C A snp UTR5 -51G>T ELOVL7 Elovl7 ENSG00000164181 ELOVL fatty acid elongase 7 chr5:60047618-60140216 Stroke; Tobacco Use Disorder Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0019367;fatty acid elongation, saturated fatty acid;IDA|GO:0034626;fatty acid elongation, polyunsaturated fatty acid;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0009922;fatty acid elongase activity;EXP|GO:0016740;transferase activity;IEA|GO:0102336;3-oxo-arachidoyl-CoA synthase activity;IEA|GO:0102337;3-oxo-cerotoyl-CoA synthase activity;IEA|GO:0102338;3-oxo-lignoceronyl-CoA synthase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ELOVL7 https://www.ncbi.nlm.nih.gov/omim/?term=614451 http://www.informatics.jax.org/searchtool/Search.do?query=ELOVL7&submit=Quick%0D%11235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELOVL7 rs10072745 0.640974 0.5721 0.5570 1 0 0 intronic intronic UTR5 ELOVL7 ELOVL7 ENSG00000164181(ENST00000438340:c.-51G>T,ENST00000504455:c.-51G>T) Na Na Na Na Na Na Het;C>A 895;39|41 Het;C>A 785;26|36 Hom;C>A 1649;2|65 N N - 5 60126424 60126424 T C snp intronic ELOVL7 Elovl7 ENSG00000164181 ELOVL fatty acid elongase 7 chr5:60047618-60140216 Stroke; Tobacco Use Disorder Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0019367;fatty acid elongation, saturated fatty acid;IDA|GO:0034626;fatty acid elongation, polyunsaturated fatty acid;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0009922;fatty acid elongase activity;EXP|GO:0016740;transferase activity;IEA|GO:0102336;3-oxo-arachidoyl-CoA synthase activity;IEA|GO:0102337;3-oxo-cerotoyl-CoA synthase activity;IEA|GO:0102338;3-oxo-lignoceronyl-CoA synthase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ELOVL7 https://www.ncbi.nlm.nih.gov/omim/?term=614451 http://www.informatics.jax.org/searchtool/Search.do?query=ELOVL7&submit=Quick%0D%11235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELOVL7 rs2409825 0 0 0 1 0 0 intronic intronic intronic ELOVL7 ELOVL7 ENSG00000164181 Na Na Na Na Na Na Het;T>C 1399;76|71 Het;T>C 759;100|52 Hom;T>C 4974;0|202 N N - 5 64267431 64267431 A G snp intronic CWC27 Cwc27 ENSG00000153015 CWC27 spliceosome associated protein homolog chr5:64064757-64314590 Waist Circumference; Coronary Disease; Tobacco Use Disorder Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CWC27 https://www.uniprot.org/uniprot/Q6UX04 https://hpo.jax.org/app/browse/search?q=CWC27&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617170 http://www.informatics.jax.org/searchtool/Search.do?query=CWC27&submit=Quick%0D%9617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CWC27 rs2278352 0.339457 0 0 1 0 0 intronic intronic intronic CWC27 CWC27 ENSG00000153015 Na Na Na Na Na Na Het;A>G 132;6|6 Het;A>G 140;8|6 Hom;A>G 224;0|7 N N - 5 64267595 64267595 T C snp synonymous SNV T1108C L370L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CWC27 Cwc27 ENSG00000153015 CWC27 spliceosome associated protein homolog chr5:64064757-64314590 Waist Circumference; Coronary Disease; Tobacco Use Disorder Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CWC27 https://www.uniprot.org/uniprot/Q6UX04 https://hpo.jax.org/app/browse/search?q=CWC27&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617170 http://www.informatics.jax.org/searchtool/Search.do?query=CWC27&submit=Quick%0D%9617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CWC27 rs2278351 0.339457 0.2674 0.2683 1 0 0 exonic exonic exonic CWC27 CWC27 ENSG00000153015 synonymous SNV synonymous SNV unknown CWC27:NM_001297644:exon12:c.T1108C:p.L370L,CWC27:NM_005869:exon12:c.T1108C:p.L370L, CWC27:uc003jtn.1:exon12:c.T1108C:p.L370L,CWC27:uc010iwt.1:exon12:c.T1108C:p.L370L, UNKNOWN Het;T>C 1366;50|62 Het;T>C 1254;50|55 Hom;T>C 3475;0|121 N N - 5 64920424 64920424 C CG indel UTR5 -323G>CG TRIM23 Trim23 ENSG00000113595 tripartite motif containing 23 chr5:64885507-64921802 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008] Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. GO:0007264;small GTPase mediated signal transduction;IEA|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043085;positive regulation of catalytic activity;IEA GO:0000139;Golgi membrane;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003924;GTPase activity;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0008047;enzyme activator activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0019003;GDP binding;IDA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRIM23 https://www.uniprot.org/uniprot/P36406 https://www.ncbi.nlm.nih.gov/omim/?term=601747 http://www.informatics.jax.org/searchtool/Search.do?query=TRIM23&submit=Quick%0D%4383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM23 rs59522672 0.990216 0 0 1 0 0 upstream upstream UTR5 TRAPPC13,TRIM23 TRAPPC13,TRIM23 ENSG00000113595(ENST00000231524:c.-323G>CG) Na Na Na Na Na Na Het;+G 70;1|3 Ref Hom;+G 125;0|4 N N - 5 65867918 65867918 C T snp ncRNA_exonic AC092373.1 rs11955611 0.309105 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101928769(dist=60486),MAST4(dist=24258) BC028670(dist=362644),MAST4(dist=24258) ENSG00000234838 Na Na Na Na Na Na Het;C>T 155;10|9 Het;C>T 271;1|13 Hom;C>T 318;0|14 N N - 5 68266553 68266553 A T snp ncRNA_exonic LOC101928885 rs6894214 0.755791 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC101928885 AK128486 ENSG00000249352 Na Na Na Na Na Na Het;A>T 378;10|16 Het;A>T 261;12|15 Hom;A>T 433;0|15 N N - 5 68524006 68524006 C CT indel intronic MRPS36 Mrps36 ENSG00000278461 mitochondrial ribosomal protein S36 chr5:68513587-68525956 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial translation termination GO:0006412;translation;NAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0009353;mitochondrial oxoglutarate dehydrogenase complex;IBA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003735;structural constituent of ribosome;NAS http://www.genecards.org/index.php?path=/Search/keyword/MRPS36 https://www.uniprot.org/uniprot/P82909 https://www.ncbi.nlm.nih.gov/omim/?term=611996 http://www.informatics.jax.org/searchtool/Search.do?query=MRPS36&submit=Quick%0D%22052ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPS36 rs113292549 0.485224 0.4718 0.4454 1 0 0 intronic intronic intronic MRPS36 MRPS36 ENSG00000134056 Na Na Na Na Na Na Het;+T 164;3|9 Het;+T 370;9|20 Hom;+T 266;4|11 N N - 5 69806730 69806730 G C snp ncRNA_exonic ENSG00000205565 rs74366926 0.84984 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic GUSBP3,SMA5 SMA5 ENSG00000205565 Na Na Na Na Na Na Het;G>C 335;24|12 Het;G>C 549;25|19 Hom;G>C 1720;0|49 N N - 5 70308251 70308251 C T snp synonymous SNV G492A A164A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NAIP Naip2 ENSG00000278613 NLR family apoptosis inhibitory protein chr5:70264310-70320941 This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Spinal Muscular Atrophies of Childhood; Muscular Atrophy, Spinal Mice homozygous for disruptions in this gene display a normal phenotype. GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0007399;nervous system development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0016567;protein ubiquitination;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;TAS|GO:0045087;innate immune response;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IBA|GO:1990001;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016323;basolateral plasma membrane;ISS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030414;peptidase inhibitor activity;IEA|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAIP https://www.ncbi.nlm.nih.gov/omim/?term=600355 http://www.informatics.jax.org/searchtool/Search.do?query=NAIP&submit=Quick%0D%22090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAIP rs28409706 0.872404 0.8173 0.8021 1 0 0 exonic exonic exonic NAIP NAIP ENSG00000249437 synonymous SNV synonymous SNV unknown NAIP:NM_004536:exon4:c.G492A:p.A164A, NAIP:uc011crs.1:exon2:c.G492A:p.A164A,NAIP:uc003kar.1:exon4:c.G492A:p.A164A, UNKNOWN Het;C>T 1499;80|67 Het;C>T 1453;78|67 Hom;C>T 3768;0|134 N N - 5 72836382 72836382 C T snp intergenic BTF3 Btf3 ENSG00000145741 basic transcription factor 3 chr5:72794233-72801460 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] A gene trap insertional mutation results in homozygous embryonic lethality shortly after implantation. GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTF3 https://www.uniprot.org/uniprot/P20290 https://www.ncbi.nlm.nih.gov/omim/?term=602542 http://www.informatics.jax.org/searchtool/Search.do?query=BTF3&submit=Quick%0D%8778ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTF3 rs847659 0.459665 0 0 1 0 0 intergenic intergenic intergenic BTF3(dist=34934),ANKRA2(dist=11643) BTF3(dist=34934),ANKRA2(dist=11643) ENSG00000255883(dist=31303),ENSG00000164331(dist=11778) Na Na Na Na Na Na Het;C>T 118;4|6 Ref Hom;C>T 71;0|4 N N - 5 72851535 72851535 A T snp intronic ANKRA2 Ankra2 ENSG00000164331 ankyrin repeat family A member 2 chr5:72848160-72861511 GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0008150;biological_process;ND|GO:0043254;regulation of protein complex assembly;IDA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:1990393;3M complex;IDA GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0042826;histone deacetylase binding;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANKRA2 https://www.ncbi.nlm.nih.gov/omim/?term=605787 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRA2&submit=Quick%0D%11283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRA2 rs819584 0.715056 0 0 1 0 0 intronic intronic intronic ANKRA2 ANKRA2 ENSG00000164331 Na Na Na Na Na Na Het;A>T 75;2|3 Het;A>T 35;3|2 Hom;A>T 162;0|5 N N - 5 73136718 73136718 T G snp intronic ARHGEF28 Arhgef28 ENSG00000214944 Rho guanine nucleotide exchange factor 28 chr5:72921983-73237818 This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] Mental Competency; Socioeconomic Factors; Blood Pressure; Heart Failure; Leprosy; fibrin fragment D; Myocardial Infarction; Uric Acid; Triglycerides Mice homozygous for a knock-out allele are born at lower than expected Mendelian ratios and exhibit a reduction in overall size that becomes negligible by 8 weeks of age. Mouse embryonic fibroblasts display defects in cell migration and focal adhesion formation. EPHB-mediated forward signaling GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0003723;RNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF28 https://www.ncbi.nlm.nih.gov/omim/?term=612790 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF28&submit=Quick%0D%18291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF28 rs2973574 0.361621 0 0 1 0 0 intronic intronic intronic ARHGEF28 ARHGEF28 ENSG00000214944 Na Na Na Na Na Na Het;T>G 94;10|4 Het;T>G 34;2|2 Hom;T>G 306;0|10 N N - 5 733998 733998 G A snp intronic ZDHHC11 Zdhhc11 ENSG00000188818 zinc finger DHHC-type containing 11 chr5:710471-851101 Tobacco Use Disorder GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11 http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11 rs4247710 0 0 0.1401 1 0 0 intergenic intergenic intronic TPPP(dist=40488),ZDHHC11(dist=61722) TPPP(dist=40488),ZDHHC11(dist=61722) ENSG00000188818,ENSG00000206077 Na Na Na Na Na Na Het;G>A 166;3|6 Ref Hom;G>A 548;0|13 N N - 5 734004 734004 G A snp intronic ZDHHC11 Zdhhc11 ENSG00000188818 zinc finger DHHC-type containing 11 chr5:710471-851101 Tobacco Use Disorder GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11 http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11 rs28498541 0.138379 0 0.1332 1 0 0 intergenic intergenic intronic TPPP(dist=40494),ZDHHC11(dist=61716) TPPP(dist=40494),ZDHHC11(dist=61716) ENSG00000188818,ENSG00000206077 Na Na Na Na Na Na Het;G>A 80;3|2 Ref Hom;G>A 548;0|12 N N - 5 74988369 74988369 A G snp intronic POC5 Poc5 ENSG00000152359 POC5 centriolar protein chr5:74969949-75013313 Body Mass Index GO:0007049;cell cycle;IEA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC5 https://www.uniprot.org/uniprot/Q8NA72 http://www.informatics.jax.org/searchtool/Search.do?query=POC5&submit=Quick%0D%9537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC5 rs888789 0.509585 0.4777 0.4836 1 0 0 intronic intronic intronic POC5 POC5 ENSG00000152359 Na Na Na Na Na Na Het;A>G 346;20|16 Het;A>G 698;32|29 Hom;A>G 2196;0|78 N N - 5 75660451 75660452 GA G indel intergenic SV2C Sv2c ENSG00000122012 synaptic vesicle glycoprotein 2C chr5:75378997-75649764 Triglycerides; gamma-Glutamylcyclotransferase; Temporal Lobe; Epilepsy|Epilepsy, Temporal Lobe|; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit hypoactivity and increased anxiety-related response. Toxicity of botulinum toxin type F (BoNT/F) GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0005215;transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SV2C https://www.uniprot.org/uniprot/Q496J9 https://www.ncbi.nlm.nih.gov/omim/?term=610291 http://www.informatics.jax.org/searchtool/Search.do?query=SV2C&submit=Quick%0D%5373ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SV2C rs5868822 0.27476 0 0 1 0 0 intergenic intergenic intergenic SV2C(dist=10687),IQGAP2(dist=38628) SV2C(dist=39035),IQGAP2(dist=38697) ENSG00000122012(dist=10687),ENSG00000251235(dist=12048) Na Na Na Na Na Na Het;-A 33;1|3 Ref Hom;-A 74;0|4 N N - 5 75871350 75871350 A G snp intronic IQGAP2 Iqgap2 ENSG00000145703 IQ motif containing GTPase activating protein 2 chr5:75699074-76003957 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008] hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. Neutrophil degranulation GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2 https://www.uniprot.org/uniprot/Q13576 https://www.ncbi.nlm.nih.gov/omim/?term=605401 http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2 rs16873483 0.151358 0 0 1 0 0 intronic intronic intronic IQGAP2 IQGAP2 ENSG00000145703 Na Na Na Na Na Na Het;A>G 207;1|6 Ref Hom;A>G 187;0|6 N N - 5 75893553 75893553 T TG indel intronic IQGAP2 Iqgap2 ENSG00000145703 IQ motif containing GTPase activating protein 2 chr5:75699074-76003957 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008] hearing impairment; Triglycerides; longevity; Hearing Loss; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; smoking cessation; Body Mass Index Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. Neutrophil degranulation GO:0007165;signal transduction;TAS|GO:0034260;negative regulation of GTPase activity;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0070493;thrombin-activated receptor signaling pathway;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0009986;cell surface;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0030667;secretory granule membrane;TAS|GO:0031941;filamentous actin;IDA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;TAS|GO:0005095;GTPase inhibitor activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0017048;Rho GTPase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0051015;actin filament binding;IDA|GO:0071933;Arp2/3 complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/IQGAP2 https://www.uniprot.org/uniprot/Q13576 https://www.ncbi.nlm.nih.gov/omim/?term=605401 http://www.informatics.jax.org/searchtool/Search.do?query=IQGAP2&submit=Quick%0D%8768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQGAP2 rs34538847 0.166933 0 0 1 0 0 intronic intronic intronic IQGAP2 IQGAP2 ENSG00000145703 Na Na Na Na Na Na Het;+G 348;12|13 Het;+G 159;10|7 Hom;+G 426;0|13 N N - 5 75902533 75902533 G A snp ncRNA_exonic AC026725.1 rs1393098 0.164537 0 0 1 0 0 intronic intronic ncRNA_exonic IQGAP2 IQGAP2 ENSG00000249713 Na Na Na Na Na Na Het;G>A 1357;111|66 Het;G>A 1651;102|81 Hom;G>A 4976;2|187 N N - 5 75902716 75902716 G A snp ncRNA_exonic AC026725.1 rs1501689 0.163938 0 0 1 0 0 intronic intronic ncRNA_exonic IQGAP2 IQGAP2 ENSG00000249713 Na Na Na Na Na Na Het;G>A 1449;92|71 Het;G>A 1290;93|62 Hom;G>A 4446;1|160 N N - 5 75903311 75903311 A G snp ncRNA_exonic AC026725.1 rs62362035 0.160942 0 0 1 0 0 intronic intronic ncRNA_exonic IQGAP2 IQGAP2 ENSG00000249713 Na Na Na Na Na Na Het;A>G 1415;78|59 Het;A>G 1803;93|81 Hom;A>G 4007;2|136 N N - 5 76295720 76295720 G A snp intergenic CRHBP Crhbp ENSG00000145708 corticotropin releasing hormone binding protein chr5:76248538-76276983 Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008] musculoskeletal pain; Bone Mineral Density; bronchodilator response; Parkinson Disease; Psychophysiologic Disorders; Vaginosis, Bacterial; Inflammation|Premature Birth; Hypertension|Pre-Eclampsia|Pregnancy Complications; Blood Proteins; schizophrenia; Tobacco Use Disorder; alcohol consumption; Infection|Inflammation|Premature Birth; Premature Birth; major depression; Alcoholism; several psychiatric disorders; depressive disorder, major; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases Mice homozygous for disruptions in this gene display behavior indicative of increased anxiety. Male mice also show reduced food intake resulting in reduced growth between ages 7 and 15 weeks. Class B/2 (Secretin family receptors) GO:0001963;synaptic transmission, dopaminergic;ISS|GO:0006954;inflammatory response;IDA|GO:0007165;signal transduction;TAS|GO:0007565;female pregnancy;IDA|GO:0007611;learning or memory;TAS|GO:0009755;hormone-mediated signaling pathway;IDA|GO:0033554;cellular response to stress;IMP|GO:0035690;cellular response to drug;ISS|GO:0035865;cellular response to potassium ion;IDA|GO:0045055;regulated exocytosis;IDA|GO:0048149;behavioral response to ethanol;IMP|GO:0051459;regulation of corticotropin secretion;IDA|GO:0051460;negative regulation of corticotropin secretion;IDA|GO:0071277;cellular response to calcium ion;ISS|GO:0071314;cellular response to cocaine;ISS|GO:0071320;cellular response to cAMP;ISS|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071391;cellular response to estrogen stimulus;IDA|GO:0071392;cellular response to estradiol stimulus;IDA|GO:0097211;cellular response to gonadotropin-releasing hormone;ISS|GO:1900011;negative regulation of corticotropin-releasing hormone receptor activity;IDA|GO:2000310;regulation of NMDA receptor activity;ISS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;ISS|GO:0005634;nucleus;ISS|GO:0005767;secondary lysosome;ISS|GO:0005771;multivesicular body;ISS|GO:0005874;microtubule;ISS|GO:0030141;secretory granule;IDA|GO:0030425;dendrite;ISS|GO:0031045;dense core granule;ISS|GO:0043196;varicosity;ISS|GO:0043204;perikaryon;ISS|GO:0043679;axon terminus;ISS GO:0005515;protein binding;IPI|GO:0042277;peptide binding;ISS|GO:0051424;corticotropin-releasing hormone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CRHBP https://www.uniprot.org/uniprot/P24387 https://www.ncbi.nlm.nih.gov/omim/?term=122559 http://www.informatics.jax.org/searchtool/Search.do?query=CRHBP&submit=Quick%0D%8769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRHBP rs247750 0.402556 0 0 1 0 0 intergenic intergenic intergenic CRHBP(dist=30421),AGGF1(dist=30490) CRHBP(dist=30421),AGGF1(dist=30490) NONE(dist=NONE),ENSG00000164252(dist=30490) Na Na Na Na Na Na Het;G>A 726;21|34 Het;G>A 687;25|32 Hom;G>A 2025;0|73 N N - 5 76330401 76330401 G A snp intronic AGGF1 Aggf1 ENSG00000164252 angiogenic factor with G-patch and FHA domains 1 chr5:76325076-76361059 This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] Klippel-Trenaunay-Weber Syndrome Homozygous null embryos die before E8.5. Heterozygotes exhibit defective angiogenesis in yolk sacs and embryos and partial lethality. Surviving adults show hemorrhages, increased vascular permeability, and reduced tumor growth of implanted melanoma cell lines. Signaling by BRAF and RAF fusions GO:0001525;angiogenesis;IEA|GO:0001570;vasculogenesis;TAS|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0007155;cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IDA GO:0005576;extracellular region;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AGGF1 https://hpo.jax.org/app/browse/search?q=AGGF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608464 http://www.informatics.jax.org/searchtool/Search.do?query=AGGF1&submit=Quick%0D%11253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGGF1 rs1428355 0.147364 0 0 1 0 0 intronic intronic intronic AGGF1 AGGF1 ENSG00000164252 Na Na Na Na Na Na Het;G>A 425;11|18 Het;G>A 646;16|28 Hom;G>A 738;0|27 N N - 5 76343999 76343999 T C snp synonymous SNV T1215C I405I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AGGF1 Aggf1 ENSG00000164252 angiogenic factor with G-patch and FHA domains 1 chr5:76325076-76361059 This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] Klippel-Trenaunay-Weber Syndrome Homozygous null embryos die before E8.5. Heterozygotes exhibit defective angiogenesis in yolk sacs and embryos and partial lethality. Surviving adults show hemorrhages, increased vascular permeability, and reduced tumor growth of implanted melanoma cell lines. Signaling by BRAF and RAF fusions GO:0001525;angiogenesis;IEA|GO:0001570;vasculogenesis;TAS|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0007155;cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IDA GO:0005576;extracellular region;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AGGF1 https://hpo.jax.org/app/browse/search?q=AGGF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608464 http://www.informatics.jax.org/searchtool/Search.do?query=AGGF1&submit=Quick%0D%11253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGGF1 rs13155212 0.222045 0.2471 0.2387 1 0 0 exonic exonic exonic AGGF1 AGGF1 ENSG00000164252 synonymous SNV synonymous SNV unknown AGGF1:NM_018046:exon7:c.T1215C:p.I405I, AGGF1:uc003ket.3:exon7:c.T1215C:p.I405I, UNKNOWN Het;T>C 1882;87|86 Het;T>C 1691;74|81 Hom;T>C 4772;0|180 N N - 5 76359090 76359090 G GA indel UTR3 *13G>GA AGGF1 Aggf1 ENSG00000164252 angiogenic factor with G-patch and FHA domains 1 chr5:76325076-76361059 This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] Klippel-Trenaunay-Weber Syndrome Homozygous null embryos die before E8.5. Heterozygotes exhibit defective angiogenesis in yolk sacs and embryos and partial lethality. Surviving adults show hemorrhages, increased vascular permeability, and reduced tumor growth of implanted melanoma cell lines. Signaling by BRAF and RAF fusions GO:0001525;angiogenesis;IEA|GO:0001570;vasculogenesis;TAS|GO:0001938;positive regulation of endothelial cell proliferation;IDA|GO:0007155;cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045766;positive regulation of angiogenesis;IDA GO:0005576;extracellular region;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AGGF1 https://hpo.jax.org/app/browse/search?q=AGGF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608464 http://www.informatics.jax.org/searchtool/Search.do?query=AGGF1&submit=Quick%0D%11253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGGF1 rs34239222 0.202676 0.2291 0.2357 1 0 0 UTR3 UTR3 UTR3 AGGF1(NM_018046:c.*13G>GA) AGGF1(uc003ket.3:c.*13G>GA) ENSG00000164252(ENST00000312916:c.*13G>GA) Na Na Na Na Na Na Het;+A 392;22|21 Het;+A 274;16|14 Hom;+A 1444;0|53 N N - 5 76377527 76377527 G A snp intronic ZBED3 Zbed3 ENSG00000132846 zinc finger BED-type containing 3 chr5:76367897-76383148 This gene belongs to a class of genes that arose through hAT DNA transposition and that encode regulatory proteins. This gene is upregulated in lung cancer tissues, where the encoded protein causes an accumulation of beta-catenin and enhanced lung cancer cell invasion. In addition, the encoded protein can be secreted and be involved in resistance to insulin. [provided by RefSeq, Jul 2016] GO:0001933;negative regulation of protein phosphorylation;ISS|GO:0016055;Wnt signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050821;protein stabilization;ISS|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZBED3 https://www.uniprot.org/uniprot/Q96IU2 https://www.ncbi.nlm.nih.gov/omim/?term=615250 http://www.informatics.jax.org/searchtool/Search.do?query=ZBED3&submit=Quick%0D%6753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBED3 rs4551049 0.180112 0 0 1 0 0 intronic intronic intronic ZBED3 ZBED3 ENSG00000132846 Na Na Na Na Na Na Het;G>A 316;8|13 Het;G>A 214;3|8 Hom;G>A 735;0|24 N N - 5 76380000 76380000 G A snp intronic ZBED3 Zbed3 ENSG00000132846 zinc finger BED-type containing 3 chr5:76367897-76383148 This gene belongs to a class of genes that arose through hAT DNA transposition and that encode regulatory proteins. This gene is upregulated in lung cancer tissues, where the encoded protein causes an accumulation of beta-catenin and enhanced lung cancer cell invasion. In addition, the encoded protein can be secreted and be involved in resistance to insulin. [provided by RefSeq, Jul 2016] GO:0001933;negative regulation of protein phosphorylation;ISS|GO:0016055;Wnt signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0050821;protein stabilization;ISS|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0016020;membrane;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZBED3 https://www.uniprot.org/uniprot/Q96IU2 https://www.ncbi.nlm.nih.gov/omim/?term=615250 http://www.informatics.jax.org/searchtool/Search.do?query=ZBED3&submit=Quick%0D%6753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBED3 rs2914143 0.218051 0 0 1 0 0 intronic intronic intronic ZBED3 ZBED3 ENSG00000132846 Na Na Na Na Na Na Het;G>A 1798;89|79 Het;G>A 1370;87|65 Hom;G>A 3232;2|117 N N - 5 78573790 78573790 A T snp nonsynonymous SNV A28T M10L hydrophobic,neutral aliphatic,hydrophobic,neutral JMY Jmy ENSG00000152409 junction mediating and regulatory protein, p53 cofactor chr5:78532012-78623038 breast cancer Regulation of TP53 Activity through Methylation GO:0006281;DNA repair;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IBA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0043065;positive regulation of apoptotic process;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:0070060;'de novo' actin filament nucleation;IBA|GO:0070358;actin polymerization-dependent cell motility;ISS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0031252;cell leading edge;IDA GO:0003713;transcription coactivator activity;IBA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0071933;Arp2/3 complex binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/JMY https://www.uniprot.org/uniprot/Q8N9B5 https://www.ncbi.nlm.nih.gov/omim/?term=604279 http://www.informatics.jax.org/searchtool/Search.do?query=JMY&submit=Quick%0D%9543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JMY rs13182512 0.480631 0.5482 0.5465 0.15 2 13 exonic exonic exonic JMY JMY ENSG00000152409 nonsynonymous SNV nonsynonymous SNV unknown JMY:NM_152405:exon2:c.A1090T:p.M364L, JMY:uc003kfw.1:exon1:c.A28T:p.M10L,JMY:uc003kfx.4:exon2:c.A1090T:p.M364L, UNKNOWN Het;A>T 1385;84|61 Het;A>T 1050;71|53 Hom;A>T 3448;0|133 N N - 5 78573970 78573970 T C snp intronic JMY Jmy ENSG00000152409 junction mediating and regulatory protein, p53 cofactor chr5:78532012-78623038 breast cancer Regulation of TP53 Activity through Methylation GO:0006281;DNA repair;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IBA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0043065;positive regulation of apoptotic process;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:0070060;'de novo' actin filament nucleation;IBA|GO:0070358;actin polymerization-dependent cell motility;ISS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0031252;cell leading edge;IDA GO:0003713;transcription coactivator activity;IBA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0071933;Arp2/3 complex binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/JMY https://www.uniprot.org/uniprot/Q8N9B5 https://www.ncbi.nlm.nih.gov/omim/?term=604279 http://www.informatics.jax.org/searchtool/Search.do?query=JMY&submit=Quick%0D%9543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JMY rs16876598 0.480631 0 0 1 0 0 intronic intronic intronic JMY JMY ENSG00000152409 Na Na Na Na Na Na Het;T>C 977;22|41 Het;T>C 421;19|20 Hom;T>C 1503;0|56 N N - 5 78573993 78573995 TAA T indel intronic JMY Jmy ENSG00000152409 junction mediating and regulatory protein, p53 cofactor chr5:78532012-78623038 breast cancer Regulation of TP53 Activity through Methylation GO:0006281;DNA repair;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IBA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0043065;positive regulation of apoptotic process;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:0070060;'de novo' actin filament nucleation;IBA|GO:0070358;actin polymerization-dependent cell motility;ISS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0031252;cell leading edge;IDA GO:0003713;transcription coactivator activity;IBA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0071933;Arp2/3 complex binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/JMY https://www.uniprot.org/uniprot/Q8N9B5 https://www.ncbi.nlm.nih.gov/omim/?term=604279 http://www.informatics.jax.org/searchtool/Search.do?query=JMY&submit=Quick%0D%9543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JMY rs544345927 0.496006 0 0 1 0 0 intronic intronic intronic JMY JMY ENSG00000152409 Na Na Na Na Na Na Het;-AA 298;8|12 Ref Hom;-AA 468;0|17 N N - 5 78586914 78586914 G T snp intronic JMY Jmy ENSG00000152409 junction mediating and regulatory protein, p53 cofactor chr5:78532012-78623038 breast cancer Regulation of TP53 Activity through Methylation GO:0006281;DNA repair;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007050;cell cycle arrest;IBA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IBA|GO:0043065;positive regulation of apoptotic process;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:0070060;'de novo' actin filament nucleation;IBA|GO:0070358;actin polymerization-dependent cell motility;ISS|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0031252;cell leading edge;IDA GO:0003713;transcription coactivator activity;IBA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0071933;Arp2/3 complex binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/JMY https://www.uniprot.org/uniprot/Q8N9B5 https://www.ncbi.nlm.nih.gov/omim/?term=604279 http://www.informatics.jax.org/searchtool/Search.do?query=JMY&submit=Quick%0D%9543ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JMY rs10043008 0.460863 0.5061 0.5131 1 0 0 intronic intronic intronic JMY JMY ENSG00000152409 Na Na Na Na Na Na Het;G>T 454;13|16 Het;G>T 274;12|12 Hom;G>T 408;0|14 N N - 5 79145282 79145284 GGT G indel downstream AC008496.1 rs150703681 0.636581 0 0 1 0 0 intergenic intergenic downstream CMYA5(dist=49233),MTX3(dist=127255) CMYA5(dist=49233),MTX3(dist=127255) ENSG00000238254 Na Na Na Na Na Na Het;-GT 1126;53|32 Het;-GT 1577;35|42 Hom;-GT 2980;2|70 N N - 5 80390318 80390318 G A snp intronic RASGRF2 Rasgrf2 ENSG00000113319 Ras protein specific guanine nucleotide releasing factor 2 chr5:80256491-80525975 RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011] Magnesium; Electrocardiography; Cleft Palate; Body Weights and Measures; Tobacco Use Disorder Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice. RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046578;regulation of Ras protein signal transduction;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASGRF2 https://www.uniprot.org/uniprot/O14827 https://www.ncbi.nlm.nih.gov/omim/?term=606614 http://www.informatics.jax.org/searchtool/Search.do?query=RASGRF2&submit=Quick%0D%4348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASGRF2 rs425847 0.167532 0 0 1 0 0 intronic intronic intronic RASGRF2 RASGRF2 ENSG00000113319 Na Na Na Na Na Na Het;G>A 178;6|6 Het;G>A 58;7|3 Hom;G>A 123;0|4 N N - 5 80689730 80689731 AC A indel ncRNA_intronic RNU5E-1 rs367544811 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic RNU5D-1,RNU5E-1 RNU5E-1 ENSG00000172497 Na Na Na Na Na Na Het;-C 202;3|9 Het;-C 190;7|9 Hom;-C 574;0|20 N N - 5 80689953 80689953 C A snp UTR5 -20G>T ACOT12 Acot12 ENSG00000172497 acyl-CoA thioesterase 12 chr5:80625824-80689998 Tobacco Use Disorder Mitochondrial Fatty Acid Beta-Oxidation GO:0006084;acetyl-CoA metabolic process;IEA|GO:0006090;pyruvate metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003986;acetyl-CoA hydrolase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008289;lipid binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOT12 https://www.ncbi.nlm.nih.gov/omim/?term=614315 http://www.informatics.jax.org/searchtool/Search.do?query=ACOT12&submit=Quick%0D%13178ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT12 rs13178695 0.361422 0.3009 0.3885 1 0 0 ncRNA_intronic ncRNA_intronic UTR5 RNU5D-1,RNU5E-1 RNU5E-1 ENSG00000172497(ENST00000307624:c.-20G>T,ENST00000513751:c.-20G>T) Na Na Na Na Na Na Het;C>A 118;20|8 Het;C>A 395;19|17 Hom;C>A 709;0|26 N N - 5 80724256 80724256 A G snp ncRNA_intronic RNU5E-1 rs77097724 0.0866613 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic RNU5D-1,RNU5E-1 RNU5E-1 ENSG00000145687 Na Na Na Na Na Na Het;A>G 107;5|4 Het;A>G 42;3|2 Hom;A>G 181;0|5 N N - 5 81354389 81354389 T C snp nonsynonymous SNV T184C S62P polar,hydrophilic,neutral hydrophobic,neutral ATG10 Atg10 ENSG00000152348 autophagy related 10 chr5:81267844-81572676 Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008] Exercise Test; Tobacco Use Disorder Macroautophagy GO:0006497;protein lipidation;ISS|GO:0006810;transport;IEA|GO:0006914;autophagy;IMP|GO:0006983;ER overload response;IMP|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0031401;positive regulation of protein modification process;ISS|GO:0032446;protein modification by small protein conjugation;IDA GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0016874;ligase activity;IEA|GO:0019777;Atg12 transferase activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/ATG10 https://www.uniprot.org/uniprot/Q9H0Y0 https://www.ncbi.nlm.nih.gov/omim/?term=610800 http://www.informatics.jax.org/searchtool/Search.do?query=ATG10&submit=Quick%0D%9536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG10 rs3734114 0.190096 0.1612 0.2092 0.08 1 13 exonic exonic exonic ATG10 ATG10 ENSG00000152348 nonsynonymous SNV nonsynonymous SNV unknown ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P, ATG10:uc003khr.3:exon3:c.T184C:p.S62P,ATG10:uc003khs.3:exon4:c.T184C:p.S62P,ATG10:uc003khq.2:exon3:c.T184C:p.S62P, UNKNOWN Het;T>C 1323;60|59 Het;T>C 1282;86|59 Hom;T>C 4741;0|177 N N - 5 82877136 82877144 CAAAAAAAA C indel ncRNA_exonic VCAN-AS1 rs397998454 0 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic VCAN(NM_004385:c.*883_*891delinsC,NM_001164098:c.*883_*891delinsC,NM_001164097:c.*883_*891delinsC,NM_001126336:c.*883_*891delinsC) VCAN(uc003kii.3:c.*883_*891delinsC,uc003kij.3:c.*883_*891delinsC,uc010jau.2:c.*883_*891delinsC,uc003kik.3:c.*883_*891delinsC,uc003kil.3:c.*883_*891delinsC) ENSG00000249835 Na Na Na Na Na Na Het;-AAAAAAAA 657;7|20 Ref Hom;-AAAAAAAA 1420;2|45 N N - 5 85586584 85586584 C T snp ncRNA_intronic NBPF22P rs10038100 0.469449 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic NBPF22P NBPF22P ENSG00000205449 Na Na Na Na Na Na Het;C>T 141;5|6 Ref Hom;C>T 290;0|8 N N - 5 86433200 86433201 CA C indel ncRNA_intronic BC034940 rs11314752 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929380 BC034940 ENSG00000249061 Na Na Na Na Na Na Het;-A 119;5|11 Het;-A 50;3|5 Hom;-A 222;1|13 N N - 5 94353240 94353240 T TTCTCTAAAGGGGGACCA indel intronic MCTP1 Mctp1 ENSG00000175471 multiple C2 and transmembrane domain containing 1 chr5:94039446-94620279 Bipolar disorder; Bipolar Disorder; Body Composition; Body Mass Index; Myocardial Infarction; Body Height; Tobacco Use Disorder; Body Weight GO:0019722;calcium-mediated signaling;NAS GO:0005783;endoplasmic reticulum;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0005509;calcium ion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MCTP1 https://www.ncbi.nlm.nih.gov/omim/?term=616296 http://www.informatics.jax.org/searchtool/Search.do?query=MCTP1&submit=Quick%0D%13705ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCTP1 rs139116758 0.137181 0.0644 0.0517 1 0 0 intronic intronic intronic MCTP1 MCTP1 ENSG00000175471 Na Na Na Na Na Na Het;+TCTCTAAAGGGGGACCA 491;12|13 Het;+TCTCTAAAGGGGGACCA 415;16|12 Hom;+TCTCTAAAGGGGGACCA 1514;0|36 N N - 5 95194571 95194571 T C snp unknown LINC01554 rs13168014 0.601438 0 0.5527 1 0 0 ncRNA_exonic ncRNA_exonic exonic LINC01554 C5orf27 ENSG00000236882 Na Na unknown Na Na UNKNOWN Het;T>C 2296;58|81 Het;T>C 1323;52|51 Hom;T>C 3126;0|97 N N - 5 96442957 96442957 T A snp intronic LIX1 Lix1 ENSG00000145721 limb and CNS expressed 1 chr5:96427574-96478576 spinal muscular atrophy; kidney aging A gene trap allele that eliminates the full length transcript, but permits expression of a rodent-specific shorter transcript, results in mice with no overt mutant phenotype. GO:0097352;autophagosome maturation;IBA GO:0005737;cytoplasm;IBA http://www.genecards.org/index.php?path=/Search/keyword/LIX1 https://www.uniprot.org/uniprot/Q8N485 https://www.ncbi.nlm.nih.gov/omim/?term=610466 http://www.informatics.jax.org/searchtool/Search.do?query=LIX1&submit=Quick%0D%8771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIX1 rs316179 0.360623 0 0 1 0 0 intronic intronic intronic LIX1 LIX1 ENSG00000145721,ENSG00000251606 Na Na Na Na Na Na Het;T>A 351;9|12 Het;T>A 42;10|3 Hom;T>A 333;1|12 N N - 5 9713013 9713013 C T snp ncRNA_intronic LOC285692 rs75026996 0.0766773 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC285692 LOC285692 ENSG00000249781 Na Na Na Na Na Na Het;C>T 274;1|8 Ref Hom;C>T 177;0|5 N N - 5 98816441 98816441 A G snp intergenic LOC100289230 rs2511969 0.301717 0 0 1 0 0 intergenic intergenic intergenic LOC100289230(dist=549728),CTD-2151A2.1(dist=53253) LOC100289230(dist=549728),DQ597441(dist=42039) ENSG00000248489(dist=485724),ENSG00000249444(dist=8822) Na Na Na Na Na Na Het;A>G 158;38|14 Het;A>G 688;28|34 Hom;A>G 2258;1|86 N N - 5 988510 988510 C T snp ncRNA_exonic LOC100506688 rs4975533 0.693091 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic LOC100506688 LOC100506688(uc021xvx.1:c.*919G>A) ENSG00000215246 Na Na Na Na Na Na Het;C>T 433;36|20 Het;C>T 552;36|29 Hom;C>T 1598;0|60 N N - 5 98858544 98858544 C G snp ncRNA_exonic AC114324.1 rs2682145 0.313498 0 0 1 0 0 intergenic upstream;downstream ncRNA_exonic LOC100289230(dist=591831),CTD-2151A2.1(dist=11150) DQ597441;DQ597441 ENSG00000206356 Na Na Na Na Na Na Het;C>G 1275;15|51 Het;C>G 710;16|30 Hom;C>G 1932;0|64 N N - 5 98859552 98859552 G A snp ncRNA_exonic AC114324.1 rs62374997 0 0 0 1 0 0 intergenic upstream;downstream ncRNA_exonic LOC100289230(dist=592839),CTD-2151A2.1(dist=10142) DQ597441;DQ596041 ENSG00000206356 Na Na Na Na Na Na Het;G>A 187;13|10 Het;G>A 430;8|18 Hom;G>A 536;0|21 N N - 5 98860683 98860683 A G snp ncRNA_exonic AC114324.1 rs2460678 0.320288 0 0 1 0 0 intergenic upstream ncRNA_exonic LOC100289230(dist=593970),CTD-2151A2.1(dist=9011) DQ596041 ENSG00000206356 Na Na Na Na Na Na Het;A>G 1540;79|67 Het;A>G 1410;58|59 Hom;A>G 3720;0|129 N N - 5 98870288 98870288 C T snp ncRNA_exonic CTD-2151A2.1 rs2460669 0.309505 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic CTD-2151A2.1 DQ596041(dist=9778),JB137812(dist=511842) ENSG00000227762 Na Na Na Na Na Na Het;C>T 1448;80|63 Het;C>T 1132;50|49 Hom;C>T 3404;0|119 N N - 5 99728030 99728030 G C snp intergenic LOC100133050 rs62389063 0.98123 0 0 1 0 0 intergenic intergenic intergenic LOC100133050(dist=4072),FAM174A(dist=142979) DQ583509(dist=1585),FAM174A(dist=143094) ENSG00000207077(dist=238547),ENSG00000249787(dist=9115) Na Na Na Na Na Na Het;G>C 85;13|6 Ref Hom;G>C 506;0|18 N N - 6 100056899 100056899 T C snp intronic PRDM13 Prdm13 ENSG00000112238 PR/SET domain 13 chr6:100054606-100063454 Menarche; Parkinson Disease Mice homozygous for a knock-out allele show a specific reduction in the number of GABAergic and glycinergic amacrine cells, a thin retinal inner nuclear layer, altered retinal inner plexiform layer morphology, and abnormally increased spatial, temporal, and contrast sensitivities in optokinetic reponses. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016571;histone methylation;IEA|GO:0022008;neurogenesis;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042054;histone methyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM13 https://www.uniprot.org/uniprot/Q9H4Q3 https://www.ncbi.nlm.nih.gov/omim/?term=616741 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM13&submit=Quick%0D%4207ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM13 rs9494877 0.236022 0 0 1 0 0 intronic intronic intronic PRDM13 PRDM13 ENSG00000112238 Na Na Na Na Na Na Het;T>C 356;14|12 Het;T>C 316;4|9 Hom;T>C 172;0|5 N N - 6 100442268 100442268 T C snp ncRNA_intronic LOC728012 rs6925272 0.313099 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MCHR2-AS1 LOC728012 ENSG00000229315 Na Na Na Na Na Na Het;T>C 38;5|2 Ref Hom;T>C 71;0|4 N N - 6 103716471 103716471 G A snp intergenic GRIK2 Grik2 ENSG00000164418 glutamate ionotropic receptor kainate type subunit 2 chr6:101846664-102517958 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive mental retardation. [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis; Tobacco Use Disorder; Iron; Echocardiography; idiopathic generalized epilepsies; autism; Blood Pressure; Blood Cells; Urinalysis; smoking; Huntington's disease; Lipoproteins; Follicle Stimulating Hormone; schizophrenia; Myocardial Infarction; Cholesterol, LDL; Cardiomegaly; Hemoglobins; Stroke; Cholesterol, HDL; several psychiatric disorders; Citalopram/adverse effects*; Fibrinogen; Triglycerides; obsessive compulsive disorder; Gout; Lipoproteins, VLDL; normal variation; Biochemical measures; Potassium Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration. Activation of Ca-permeable Kainate Receptor GO:0006810;transport;NAS|GO:0006811;ion transport;IEA|GO:0007215;glutamate receptor signaling pathway;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0043113;receptor clustering;IEA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0046328;regulation of JNK cascade;IEA|GO:0048172;regulation of short-term neuronal synaptic plasticity;IMP|GO:0050804;modulation of synaptic transmission;IDA|GO:0050806;positive regulation of synaptic transmission;IMP|GO:0051402;neuron apoptotic process;IEA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008328;ionotropic glutamate receptor complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032839;dendrite cytoplasm;IEA|GO:0043195;terminal bouton;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0098794;postsynapse;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IMP|GO:0008066;glutamate receptor activity;IEA|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015277;kainate selective glutamate receptor activity;TAS|GO:0030165;PDZ domain binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRIK2 https://hpo.jax.org/app/browse/search?q=GRIK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138244 http://www.informatics.jax.org/searchtool/Search.do?query=GRIK2&submit=Quick%0D%11305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIK2 rs7762534 0.43131 0 0 1 0 0 intergenic intergenic intergenic GRIK2(dist=1198513),HACE1(dist=1459497) GRIK2(dist=1198513),HACE1(dist=1459497) ENSG00000217120(dist=264699),ENSG00000202283(dist=314539) Na Na Na Na Na Na Het;G>A 64;11|5 Het;G>A 98;16|8 Hom;G>A 799;0|30 N N - 6 105845906 105845906 G A snp intronic PREP Prep ENSG00000085377 prolyl endopeptidase chr6:105725440-105850959 The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008] bipolar disorder; Coronary Artery Disease; diabetes, type 2; Tobacco Use Disorder; Bulimia Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity. GO:0006508;proteolysis;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0070008;serine-type exopeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PREP https://www.uniprot.org/uniprot/P48147 https://www.ncbi.nlm.nih.gov/omim/?term=600400 http://www.informatics.jax.org/searchtool/Search.do?query=PREP&submit=Quick%0D%1884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PREP rs6910880 0.462061 0 0 1 0 0 intronic intronic intronic PREP PREP ENSG00000085377 Na Na Na Na Na Na Het;G>A 122;7|5 Het;G>A 200;5|7 Hom;G>A 147;0|5 N N - 6 105850712 105850712 A G snp intronic PREP Prep ENSG00000085377 prolyl endopeptidase chr6:105725440-105850959 The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008] bipolar disorder; Coronary Artery Disease; diabetes, type 2; Tobacco Use Disorder; Bulimia Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity. GO:0006508;proteolysis;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0070008;serine-type exopeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PREP https://www.uniprot.org/uniprot/P48147 https://www.ncbi.nlm.nih.gov/omim/?term=600400 http://www.informatics.jax.org/searchtool/Search.do?query=PREP&submit=Quick%0D%1884ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PREP rs880177 0.334864 0.2997 0.3661 1 0 0 intronic intronic intronic PREP PREP ENSG00000085377 Na Na Na Na Na Na Het;A>G 720;44|36 Het;A>G 986;30|47 Hom;A>G 1542;0|59 N N - 6 109032557 109032557 A G snp intergenic FOXO3 Foxo3 ENSG00000118689 forkhead box O3 chr6:108881038-109005977 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Infertility, Female|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Narcolepsy; Insulin Resistance; Amenorrhea|Ovarian Failure, Premature|POF - Premature ovarian failure; cognitive trait; normalized brain volume, multiple sclerosis; body mass; Cholesterol, HDL; Creatinine; longevity; Type 2 Diabetes| edema | rosiglitazone; Insulin-Like Growth Factor I; Multiple Sclerosis; Aging/ Telomere Length; Electrocardiography; Cleft Lip|Cleft Palate|Tooth Abnormalities Inactivation of the locus results in an ovarian defect involving follicular growth activation and leads progressively to female sterility. For some alleles defects in immune system function and hematopoiesis have also been reported. RUNX3 regulates BCL2L11 (BIM) transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001542;ovulation from ovarian follicle;IEA|GO:0001544;initiation of primordial ovarian follicle growth;IEA|GO:0001547;antral ovarian follicle growth;IEA|GO:0001556;oocyte maturation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006417;regulation of translation;IDA|GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IEA|GO:0031667;response to nutrient levels;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IMP|GO:0034599;cellular response to oxidative stress;ISS|GO:0042493;response to drug;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043525;positive regulation of neuron apoptotic process;IMP|GO:0045648;positive regulation of erythrocyte differentiation;IDA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048854;brain morphogenesis;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071386;cellular response to corticosterone stimulus;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071548;response to dexamethasone;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:1901300;positive regulation of hydrogen peroxide-mediated programmed cell death;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA|GO:1904646;cellular response to beta-amyloid;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990785;response to water-immersion restraint stress;IEA|GO:2000177;regulation of neural precursor cell proliferation;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IEA|GO:2000377;regulation of reactive oxygen species metabolic process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA GO:0001047;core promoter binding;ISS|GO:0001221;transcription cofactor binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031490;chromatin DNA binding;ISS|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FOXO3 https://www.uniprot.org/uniprot/O43524 https://www.ncbi.nlm.nih.gov/omim/?term=602681 http://www.informatics.jax.org/searchtool/Search.do?query=FOXO3&submit=Quick%0D%5000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXO3 rs9320269 0.227236 0 0 1 0 0 intergenic intergenic intergenic FOXO3(dist=26586),LINC00222(dist=40300) FOXO3(dist=26586),LINC00222(dist=47807) ENSG00000118689(dist=26580),ENSG00000203801(dist=40300) Na Na Na Na Na Na Het;A>G 604;30|29 Het;A>G 633;34|30 Hom;A>G 1937;0|71 N N - 6 109586062 109586062 C T snp nonsynonymous SNV C1255T P419S hydrophobic,neutral polar,hydrophilic,neutral LOC100996634 rs949882 0.400359 0 0.3278 1 0 0 exonic exonic intergenic LOC100996634 LOC100996634 NONE(dist=NONE),NONE(dist=NONE) nonsynonymous SNV nonsynonymous SNV Na LOC100996634:NM_001277339:exon8:c.C1255T:p.P419S, LOC100996634:uc003pta.2:exon8:c.C1255T:p.P419S, Na Het;C>T 1771;116|88 Het;C>T 1961;127|98 Hom;C>T 5782;0|220 N N - 6 109586240 109586240 A G snp intronic LOC100996634 rs949881 0.400359 0 0 1 0 0 intronic intronic intergenic LOC100996634 LOC100996634 NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;A>G 379;20|12 Het;A>G 188;9|8 Hom;A>G 644;0|20 N N - 6 109591208 109591208 C A snp intronic LOC100996634 rs9386784 0.400559 0 0.4814 1 0 0 intronic intronic intergenic LOC100996634 LOC100996634 NONE(dist=NONE),ENSG00000233908(dist=18435) Na Na Na Na Na Na Het;C>A 346;16|16 Het;C>A 166;9|7 Hom;C>A 841;0|29 N N - 6 109591433 109591433 T C snp synonymous SNV T1638C N546N polar,hydrophilic,neutral polar,hydrophilic,neutral LOC100996634 rs9400262 0.400359 0 0.3384 1 0 0 exonic exonic intergenic LOC100996634 LOC100996634 NONE(dist=NONE),ENSG00000233908(dist=18210) synonymous SNV synonymous SNV Na LOC100996634:NM_001277339:exon10:c.T1638C:p.N546N, LOC100996634:uc003pta.2:exon10:c.T1638C:p.N546N, Na Het;T>C 1143;53|55 Het;T>C 1021;38|44 Hom;T>C 2522;0|89 N N - 6 109591586 109591586 A G snp UTR3 *12A>G LOC100996634 rs9374072 0.400559 0 0.4841 1 0 0 UTR3 UTR3 intergenic LOC100996634(NM_001277339:c.*12A>G) LOC100996634(uc003pta.2:c.*12A>G) NONE(dist=NONE),ENSG00000233908(dist=18057) Na Na Na Na Na Na Het;A>G 579;12|22 Het;A>G 164;15|7 Hom;A>G 511;0|16 N N - 6 10961454 10961454 C A snp intronic SYCP2L Sycp2l ENSG00000153157 synaptonemal complex protein 2 like chr6:10748027-10979553 age at menarche/menopause; menarche and menopause (age at onset); Cholesterol, LDL; Phospholipids; Menarche; Menopause Female mice homozygous for a knock-out allele exhibit early reproductive senescence. GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/SYCP2L https://www.uniprot.org/uniprot/Q5T4T6 https://www.ncbi.nlm.nih.gov/omim/?term=616799 http://www.informatics.jax.org/searchtool/Search.do?query=SYCP2L&submit=Quick%0D%9634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYCP2L rs2295599 0.267372 0 0 1 0 0 intronic intronic intronic SYCP2L SYCP2L ENSG00000153157 Na Na Na Na Na Na Het;C>A 163;6|7 Het;C>A 92;5|4 Hom;C>A 194;0|6 N N - 6 110797703 110797709 CCGCGGG C indel intronic SLC22A16 Slc22a16 ENSG00000004809 solute carrier family 22 member 16 chr6:110745890-110797844 This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011] Hemoglobin A, Glycosylated; esophageal adenocarcinoma; breast cancer; doxorubicin pharmacokinetics Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007338;single fertilization;IMP|GO:0015695;organic cation transport;IDA|GO:0015711;organic anion transport;IEA|GO:0015837;amine transport;IEA|GO:0015879;carnitine transport;IDA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0046717;acid secretion;IDA|GO:0055085;transmembrane transport;IEA|GO:1902603;carnitine transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005275;amine transmembrane transporter activity;IDA|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015101;organic cation transmembrane transporter activity;IDA|GO:0015226;carnitine transmembrane transporter activity;TAS|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A16 https://www.uniprot.org/uniprot/Q86VW1 https://www.ncbi.nlm.nih.gov/omim/?term=608276 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A16&submit=Quick%0D%328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A16 rs150666553 0 0.9284 0.8422 1 0 0 intronic intronic intronic SLC22A16 SLC22A16 ENSG00000004809 Na Na Na Na Na Na Het;-CGCGGG 875;3|21 Het;-CGCGGG 1131;5|29 Hom;-CGCGGG 638;0|15 N N - 6 110797713 110797713 C CCACCCCT indel intronic SLC22A16 Slc22a16 ENSG00000004809 solute carrier family 22 member 16 chr6:110745890-110797844 This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011] Hemoglobin A, Glycosylated; esophageal adenocarcinoma; breast cancer; doxorubicin pharmacokinetics Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007338;single fertilization;IMP|GO:0015695;organic cation transport;IDA|GO:0015711;organic anion transport;IEA|GO:0015837;amine transport;IEA|GO:0015879;carnitine transport;IDA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IMP|GO:0046717;acid secretion;IDA|GO:0055085;transmembrane transport;IEA|GO:1902603;carnitine transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005275;amine transmembrane transporter activity;IDA|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015101;organic cation transmembrane transporter activity;IDA|GO:0015226;carnitine transmembrane transporter activity;TAS|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A16 https://www.uniprot.org/uniprot/Q86VW1 https://www.ncbi.nlm.nih.gov/omim/?term=608276 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A16&submit=Quick%0D%328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A16 rs367754468 0 0 0.8397 1 0 0 intronic intronic intronic SLC22A16 SLC22A16 ENSG00000004809 Na Na Na Na Na Na Het;+CACCCCT 978;5|22 Het;+CACCCCT 1158;8|28 Hom;+CACCCCT 853;0|15 N N - 6 111919462 111919462 G A snp ncRNA_exonic TRAF3IP2-AS1 rs174398 0.115216 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TRAF3IP2-AS1 TRAF3IP2-AS1(uc021zdv.1:c.*343G>A) ENSG00000231889 Na Na Na Na Na Na Het;G>A 1824;62|70 Het;G>A 1162;55|51 Hom;G>A 3232;2|113 N N - 6 11306153 11306153 C T snp intronic NEDD9 Nedd9 ENSG00000111859 neural precursor cell expressed, developmentally down-regulated 9 chr6:11183531-11382581 The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] HIV-1; Alzheimer's disease; Tunica Media; Tobacco Use Disorder; Myocardial Infarction; Parkinson's disease | Alzheimer's disease ; Alzheimer's disease|Parkinson's disease; Alzheimer Disease Mice homozygous for one null allele exhibit impaired lymphocyte trafficking and a deficit of splenic marginal zone B cells. Mice homozygous for another null allele display impaired spatial learning and decreased hippocampal dendritic spine densities. GO:0007010;cytoskeleton organization;NAS|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;NAS|GO:0007165;signal transduction;TAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0040008;regulation of growth;IEA|GO:0051017;actin filament bundle assembly;NAS|GO:0051301;cell division;IEA GO:0000922;spindle pole;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005819;spindle;TAS|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IEA|GO:0005938;cell cortex;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NEDD9 https://www.uniprot.org/uniprot/Q14511 https://www.ncbi.nlm.nih.gov/omim/?term=602265 http://www.informatics.jax.org/searchtool/Search.do?query=NEDD9&submit=Quick%0D%4149ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEDD9 rs16871236 0.426518 0.3125 0 1 0 0 intronic intronic intronic NEDD9 NEDD9 ENSG00000111859 Na Na Na Na Na Na Het;C>T 334;9|13 Het;C>T 215;18|11 Hom;C>T 673;0|24 N N - 6 116157635 116157635 G C snp intergenic LOC101927768 rs56036541 0.321086 0 0 1 0 0 intergenic intergenic intergenic LOC101927768(dist=1495742),FRK(dist=105058) Mir_584(dist=1414355),FRK(dist=105058) ENSG00000228777(dist=202280),ENSG00000111816(dist=94677) Na Na Na Na Na Na Het;G>C 130;8|6 Ref Hom;G>C 572;0|22 N N - 6 11625927 11625927 A G snp intergenic TMEM170B Tmem170b ENSG00000205269 transmembrane protein 170B chr6:11537938-11583757 Fibrinogen GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM170B http://www.informatics.jax.org/searchtool/Search.do?query=TMEM170B&submit=Quick%0D%17487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM170B rs715793 0.947284 0 0 1 0 0 intergenic intergenic intergenic TMEM170B(dist=42170),ADTRP(dist=87961) TMEM170B(dist=42170),SNORA67(dist=84125) ENSG00000271897(dist=17713),ENSG00000207419(dist=84125) Na Na Na Na Na Na Het;A>G 164;5|8 Het;A>G 307;6|14 Hom;A>G 594;0|20 N N - 6 116288912 116288912 T TAA indel intronic FRK Frk ENSG00000111816 fyn related Src family tyrosine kinase chr6:116252312-116381921 The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Cholesterol; Cholesterol, LDL; longevity; Alzheimer's disease Mice homozygous for a targeted null mutation do not exhibit increased susceptibility to spontaneous tumors nor increased sensitivity to inoizing radiation. Epithelial tissues appear similar to controls, but circulating levels of T3 were significantly reduced. Regulation of PTEN stability and activity GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006468;protein phosphorylation;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;TAS|GO:0005622;intracellular;TAS|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRK https://www.uniprot.org/uniprot/P42685 https://www.ncbi.nlm.nih.gov/omim/?term=606573 http://www.informatics.jax.org/searchtool/Search.do?query=FRK&submit=Quick%0D%4140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRK rs11398565 0.253594 0 0.2791 1 0 0 intronic intronic intronic FRK FRK ENSG00000111816 Na Na Na Na Na Na Het;+AA 219;4|8 Het;+AA 158;13|8 Hom;+AA 710;0|23 N N - 6 116574455 116574455 G A snp synonymous SNV C717T H239H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) TSPYL4 Tspyl4 ENSG00000187189 TSPY like 4 chr6:116571151-116575261 GO:0006334;nucleosome assembly;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPYL4 http://www.informatics.jax.org/searchtool/Search.do?query=TSPYL4&submit=Quick%0D%15799ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPYL4 rs2232472 0.388379 0.2766 0.4545 1 0 0 exonic exonic exonic TSPYL4 TSPYL4 ENSG00000187189 synonymous SNV synonymous SNV unknown TSPYL4:NM_021648:exon1:c.C717T:p.H239H, TSPYL4:uc003pwn.3:exon1:c.C717T:p.H239H, UNKNOWN Het;G>A 1915;63|78 Het;G>A 1267;69|54 Hom;G>A 4396;1|162 N N - 6 116576591 116576591 T C snp ncRNA_exonic AK093256 rs989142 0.384185 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic TSPYL4(dist=1330),TSPYL1(dist=19431) AK093256 ENSG00000237021 Na Na Na Na Na Na Het;T>C 1698;82|74 Het;T>C 1646;103|85 Hom;T>C 5715;2|208 N N - 6 116577623 116577623 T C snp ncRNA_exonic AK093256 rs6930059 0.384185 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic TSPYL4(dist=2362),TSPYL1(dist=18399) AK093256 ENSG00000237021 Na Na Na Na Na Na Het;T>C 200;16|7 Het;T>C 333;9|12 Hom;T>C 707;0|20 N N - 6 116600774 116600774 C G snp nonsynonymous SNV G220C A74P aliphatic,hydrophobic,neutral hydrophobic,neutral TSPYL1 Tspyl1 ENSG00000189241 TSPY like 1 chr6:116597741-116601066 The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009] sudden infant death; Gonadal Dysgenesis, 46,XY|Infertility, Male|Sudden Infant Death GO:0006334;nucleosome assembly;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPYL1 https://hpo.jax.org/app/browse/search?q=TSPYL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604714 http://www.informatics.jax.org/searchtool/Search.do?query=TSPYL1&submit=Quick%0D%16209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPYL1 rs3749895 0.464257 0.2937 0.3822 0.08 1 12 exonic exonic exonic TSPYL1 TSPYL1 ENSG00000189241 nonsynonymous SNV nonsynonymous SNV unknown TSPYL1:NM_003309:exon1:c.G220C:p.A74P, TSPYL1:uc003pwp.4:exon1:c.G220C:p.A74P, UNKNOWN Het;C>G 1995;49|77 Het;C>G 1328;50|55 Hom;C>G 3568;0|125 N N - 6 116600810 116600810 G A snp nonsynonymous SNV C184T P62S hydrophobic,neutral polar,hydrophilic,neutral TSPYL1 Tspyl1 ENSG00000189241 TSPY like 1 chr6:116597741-116601066 The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009] sudden infant death; Gonadal Dysgenesis, 46,XY|Infertility, Male|Sudden Infant Death GO:0006334;nucleosome assembly;IEA|GO:0008150;biological_process;ND GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPYL1 https://hpo.jax.org/app/browse/search?q=TSPYL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604714 http://www.informatics.jax.org/searchtool/Search.do?query=TSPYL1&submit=Quick%0D%16209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPYL1 rs3828743 0.34984 0.1901 0.3238 0.17 2 12 exonic exonic exonic TSPYL1 TSPYL1 ENSG00000189241 nonsynonymous SNV nonsynonymous SNV unknown TSPYL1:NM_003309:exon1:c.C184T:p.P62S, TSPYL1:uc003pwp.4:exon1:c.C184T:p.P62S, UNKNOWN Het;G>A 1573;27|59 Het;G>A 1232;38|50 Hom;G>A 2952;0|103 N N - 6 116601285 116601285 G C snp UTR5 -119129G>C DSE Dse ENSG00000111817 dermatan sulfate epimerase chr6:116575336-116762424 The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016] Stroke Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. Dermatan sulfate biosynthesis GO:0015012;heparan sulfate proteoglycan biosynthetic process;IEA|GO:0030206;chondroitin sulfate biosynthetic process;IEA|GO:0030208;dermatan sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016853;isomerase activity;IEA|GO:0047757;chondroitin-glucuronate 5-epimerase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DSE https://www.uniprot.org/uniprot/Q9UL01 https://hpo.jax.org/app/browse/search?q=DSE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605942 http://www.informatics.jax.org/searchtool/Search.do?query=DSE&submit=Quick%0D%4141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSE rs9400898 0.35623 0 0 1 0 0 UTR5 UTR5 UTR5 DSE(NM_001080976:c.-119129G>C) DSE(uc003pws.3:c.-119129G>C) ENSG00000111817(ENST00000452085:c.-119129G>C) Na Na Na Na Na Na Het;G>C 914;58|46 Het;G>C 997;45|45 Hom;G>C 2750;0|107 N N - 6 116944260 116944260 C CTTGTT indel intronic RSPH4A Rsph4a ENSG00000111834 radial spoke head 4 homolog A chr6:116937642-116954148 This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Brain GO:0003341;cilium movement;IMP|GO:0035082;axoneme assembly;IMP GO:0001534;radial spoke;ISS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0031514;motile cilium;IC|GO:0042995;cell projection;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/RSPH4A https://www.uniprot.org/uniprot/Q5TD94 https://hpo.jax.org/app/browse/search?q=RSPH4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612647 http://www.informatics.jax.org/searchtool/Search.do?query=RSPH4A&submit=Quick%0D%4143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSPH4A rs144505667 0.308506 0 0 1 0 0 intronic intronic intronic RSPH4A RSPH4A ENSG00000111834 Na Na Na Na Na Na Het;+TTGTT 323;1|9 Ref Hom;+TTGTT 276;0|7 N N - 6 118786486 118786486 T C snp UTR3 *82A>G CEP85L Cep85l ENSG00000111860 centrosomal protein 85 like chr6:118781935-119031238 The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Carcinoma, Renal Cell; QT interval; Electrocardiography; Cardiac structure and function; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP85L https://www.uniprot.org/uniprot/Q5SZL2 http://www.informatics.jax.org/searchtool/Search.do?query=CEP85L&submit=Quick%0D%4150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85L rs3798420 0.392971 0 0 1 0 0 UTR3 UTR3 UTR3 CEP85L(NM_001178035:c.*82A>G,NM_001042475:c.*82A>G) CEP85L(uc003pxz.2:c.*82A>G,uc003pya.2:c.*82A>G) ENSG00000111860(ENST00000368491:c.*82A>G,ENST00000368488:c.*82A>G) Na Na Na Na Na Na Het;T>C 196;9|9 Het;T>C 462;16|19 Hom;T>C 890;0|30 N N - 6 118822972 118822974 TGA T indel ncRNA_exonic BRD7P3 rs146307286 0.506789 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic BRD7P3 BRD7P3 ENSG00000169075 Na Na Na Na Na Na Het;-GA 624;12|22 Het;-GA 429;7|19 Hom;-GA 953;0|29 N N - 6 118823975 118823975 A G snp ncRNA_exonic BRD7P3 rs11967375 0.294329 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic BRD7P3 BRD7P3 ENSG00000169075 Na Na Na Na Na Na Het;A>G 1606;67|61 Het;A>G 1807;69|68 Hom;A>G 3535;0|116 N N - 6 118880640 118880640 T G snp UTR3 *397T>G PLN Pln ENSG00000198523 phospholamban chr6:118869461-118881893 The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016] QT interval; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; bronchodilator response; cardiomyopathy; Arrhythmias, Cardiac|Long QT Syndrome; hypertrophic cardiomyopathy; Heart Failure; Cardiac structure and function; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy; Cardiovascular Diseases|Ventricular Dysfunction, Left; Cardiomyopathy, Dilated; Arrhythmias, Cardiac|Death, Sudden, Cardiac|; null; idiopathic dilated cardiomyopathy Homozygotes for a targeted null mutation exhibit enhanced myocardial function without altered heart rate, but do not respond to the beta-agonist isoproterenol. Mutants are overtly normal and fertile. Ion transport by P-type ATPases GO:0002026;regulation of the force of heart contraction;IC|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0008015;blood circulation;NAS|GO:0008016;regulation of heart contraction;IMP|GO:0010043;response to zinc ion;IEA|GO:0010459;negative regulation of heart rate;IMP|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IEA|GO:0032780;negative regulation of ATPase activity;IDA|GO:0032868;response to insulin;IEA|GO:0033574;response to testosterone;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045822;negative regulation of heart contraction;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IC|GO:0051924;regulation of calcium ion transport;IDA|GO:0051926;negative regulation of calcium ion transport;IDA|GO:0055119;relaxation of cardiac muscle;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;IEA|GO:0086004;regulation of cardiac muscle cell contraction;IC|GO:0086023;adrenergic receptor signaling pathway involved in heart process;IEA|GO:0086036;regulation of cardiac muscle cell membrane potential;IC|GO:0086092;regulation of the force of heart contraction by cardiac conduction;IEA|GO:0090279;regulation of calcium ion import;IEA|GO:0090281;negative regulation of calcium ion import;ISS|GO:1901020;negative regulation of calcium ion transmembrane transporter activity;IDA|GO:1901077;regulation of relaxation of muscle;IEA|GO:1901877;negative regulation of calcium ion binding;IDA|GO:1901894;regulation of calcium-transporting ATPase activity;IDA|GO:1901895;negative regulation of calcium-transporting ATPase activity;IDA|GO:1901897;regulation of relaxation of cardiac muscle;IC|GO:1902081;negative regulation of calcium ion import into sarcoplasmic reticulum;ISS|GO:1903779;regulation of cardiac conduction;TAS GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0031982;vesicle;IEA|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0090534;calcium ion-transporting ATPase complex;IDA GO:0004857;enzyme inhibitor activity;ISS|GO:0005246;calcium channel regulator activity;IEA|GO:0005515;protein binding;IPI|GO:0042030;ATPase inhibitor activity;IEA|GO:0042802;identical protein binding;ISS|GO:0051117;ATPase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PLN https://hpo.jax.org/app/browse/search?q=PLN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=172405 http://www.informatics.jax.org/searchtool/Search.do?query=PLN&submit=Quick%0D%16917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLN rs12198461 0.394369 0 0 1 0 0 UTR3 UTR3 UTR3 PLN(NM_002667:c.*397T>G) PLN(uc003pye.3:c.*397T>G) ENSG00000198523(ENST00000357525:c.*397T>G) Na Na Na Na Na Na Het;T>G 375;13|17 Het;T>G 259;24|14 Hom;T>G 1305;0|42 N N - 6 118886615 118886615 T C snp UTR3 *59A>G CEP85L Cep85l ENSG00000111860 centrosomal protein 85 like chr6:118781935-119031238 The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Carcinoma, Renal Cell; QT interval; Electrocardiography; Cardiac structure and function; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP85L https://www.uniprot.org/uniprot/Q5SZL2 http://www.informatics.jax.org/searchtool/Search.do?query=CEP85L&submit=Quick%0D%4150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85L rs763254 0.295128 0 0 1 0 0 intronic UTR3 intronic CEP85L CEP85L(uc011ebl.1:c.*59A>G) ENSG00000111860 Na Na Na Na Na Na Het;T>C 68;6|5 Het;T>C 197;4|7 Hom;T>C 276;0|9 N N - 6 118887303 118887303 T C snp nonsynonymous SNV A103G S35G polar,hydrophilic,neutral aliphatic,neutral CEP85L Cep85l ENSG00000111860 centrosomal protein 85 like chr6:118781935-119031238 The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Carcinoma, Renal Cell; QT interval; Electrocardiography; Cardiac structure and function; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP85L https://www.uniprot.org/uniprot/Q5SZL2 http://www.informatics.jax.org/searchtool/Search.do?query=CEP85L&submit=Quick%0D%4150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85L rs3734381 0.436901 0.5352 0.4855 0.08 1 13 exonic exonic exonic CEP85L CEP85L ENSG00000111860 nonsynonymous SNV nonsynonymous SNV unknown CEP85L:NM_206921:exon3:c.A409G:p.S137G,CEP85L:NM_001178035:exon4:c.A418G:p.S140G,CEP85L:NM_001042475:exon3:c.A409G:p.S137G, CEP85L:uc011ebj.2:exon3:c.A103G:p.S35G,CEP85L:uc003pyc.3:exon5:c.A418G:p.S140G,CEP85L:uc003pyb.3:exon3:c.A409G:p.S137G,CEP85L:uc003pxz.2:exon3:c.A409G:p.S137G,CEP85L:uc003pya.2:exon4:c.A418G:p.S140G,CEP85L:uc011ebl.1:exon3:c.A103G:p.S35G, UNKNOWN Het;T>C 3129;126|137 Het;T>C 1932;82|87 Hom;T>C 5972;0|206 N N - 6 118911207 118911219 TACACACACACAC T indel intronic CEP85L Cep85l ENSG00000111860 centrosomal protein 85 like chr6:118781935-119031238 The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Carcinoma, Renal Cell; QT interval; Electrocardiography; Cardiac structure and function; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP85L https://www.uniprot.org/uniprot/Q5SZL2 http://www.informatics.jax.org/searchtool/Search.do?query=CEP85L&submit=Quick%0D%4150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85L rs150139712 0 0 0 1 0 0 intronic intronic intronic CEP85L CEP85L ENSG00000111860 Na Na Na Na Na Na Het;-ACACACACACAC 632;19|18 Het;-ACACACACACAC 530;23|18 Hom;-ACACACACACAC 2024;1|48 N N - 6 118953374 118953374 G A snp intronic CEP85L Cep85l ENSG00000111860 centrosomal protein 85 like chr6:118781935-119031238 The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Carcinoma, Renal Cell; QT interval; Electrocardiography; Cardiac structure and function; Tobacco Use Disorder; Cardiovascular Diseases|Ventricular Dysfunction, Left GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEP85L https://www.uniprot.org/uniprot/Q5SZL2 http://www.informatics.jax.org/searchtool/Search.do?query=CEP85L&submit=Quick%0D%4150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP85L rs6569024 0.283546 0 0 1 0 0 intronic intronic intronic CEP85L CEP85L ENSG00000111860 Na Na Na Na Na Na Het;G>A 31;4|2 Het;G>A 43;1|2 Hom;G>A 84;0|3 N N - 6 119256332 119256332 A C snp upstream MCM9 Mcm9 ENSG00000111877 minichromosome maintenance 9 homologous recombination repair factor chr6:119134605-119256327 The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] OVARIAN DYSGENESIS 4 Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0007292;female gamete generation;IEA GO:0005634;nucleus;IEA|GO:0097362;MCM8-MCM9 complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCM9 https://www.uniprot.org/uniprot/Q9NXL9 https://hpo.jax.org/app/browse/search?q=MCM9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610098 http://www.informatics.jax.org/searchtool/Search.do?query=MCM9&submit=Quick%0D%4153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM9 rs114000233 0.412939 0 0 1 0 0 upstream upstream ncRNA_intronic MCM9 MCM9 ENSG00000253194 Na Na Na Na Na Na Het;A>C 213;4|10 Het;A>C 688;3|18 Hom;A>C 436;0|15 N N - 6 119256348 119256348 T C snp upstream MCM9 Mcm9 ENSG00000111877 minichromosome maintenance 9 homologous recombination repair factor chr6:119134605-119256327 The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] OVARIAN DYSGENESIS 4 Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0007292;female gamete generation;IEA GO:0005634;nucleus;IEA|GO:0097362;MCM8-MCM9 complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCM9 https://www.uniprot.org/uniprot/Q9NXL9 https://hpo.jax.org/app/browse/search?q=MCM9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610098 http://www.informatics.jax.org/searchtool/Search.do?query=MCM9&submit=Quick%0D%4153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM9 rs62422269 0.602236 0 0 1 0 0 upstream upstream ncRNA_intronic MCM9 MCM9 ENSG00000253194 Na Na Na Na Na Na Het;T>C 302;3|14 Het;T>C 666;3|17 Hom;T>C 603;0|22 N N - 6 119256391 119256391 G A snp upstream MCM9 Mcm9 ENSG00000111877 minichromosome maintenance 9 homologous recombination repair factor chr6:119134605-119256327 The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] OVARIAN DYSGENESIS 4 Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0007292;female gamete generation;IEA GO:0005634;nucleus;IEA|GO:0097362;MCM8-MCM9 complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCM9 https://www.uniprot.org/uniprot/Q9NXL9 https://hpo.jax.org/app/browse/search?q=MCM9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610098 http://www.informatics.jax.org/searchtool/Search.do?query=MCM9&submit=Quick%0D%4153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM9 rs62422270 0.602236 0 0 1 0 0 upstream upstream ncRNA_intronic MCM9 MCM9 ENSG00000253194 Na Na Na Na Na Na Het;G>A 280;4|15 Het;G>A 240;1|12 Hom;G>A 524;0|20 N N - 6 119256451 119256451 T A snp upstream MCM9 Mcm9 ENSG00000111877 minichromosome maintenance 9 homologous recombination repair factor chr6:119134605-119256327 The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] OVARIAN DYSGENESIS 4 Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. GO:0000724;double-strand break repair via homologous recombination;IDA|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007276;gamete generation;IEA|GO:0007292;female gamete generation;IEA GO:0005634;nucleus;IEA|GO:0097362;MCM8-MCM9 complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCM9 https://www.uniprot.org/uniprot/Q9NXL9 https://hpo.jax.org/app/browse/search?q=MCM9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610098 http://www.informatics.jax.org/searchtool/Search.do?query=MCM9&submit=Quick%0D%4153ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM9 rs4946370 0.602236 0 0 1 0 0 upstream upstream ncRNA_intronic MCM9 MCM9 ENSG00000253194 Na Na Na Na Na Na Het;T>A 223;2|11 Het;T>A 78;1|5 Hom;T>A 287;0|10 N N - 6 119323987 119323987 A T snp ncRNA_intronic AL365275.1 rs3756940 0.426917 0 0 1 0 0 intronic intronic ncRNA_intronic FAM184A FAM184A ENSG00000253194 Na Na Na Na Na Na Het;A>T 523;28|22 Het;A>T 710;19|28 Hom;A>T 1684;0|53 N N - 6 120584529 120584529 T TG indel intergenic MIR3144 rs34854527 0.553514 0 0 1 0 0 intergenic intergenic intergenic MIR3144(dist=248126),TBC1D32(dist=816111) LOC285762(dist=772062),C6orf170(dist=816098) ENSG00000265725(dist=248126),ENSG00000206857(dist=262911) Na Na Na Na Na Na Het;+G 640;30|27 Het;+G 491;32|26 Hom;+G 2701;2|92 N N - 6 12120445 12120445 A G snp synonymous SNV A417G Q139Q polar,hydrophilic,neutral polar,hydrophilic,neutral HIVEP1 Hivep1 ENSG00000095951 human immunodeficiency virus type I enhancer binding protein 1 chr6:12008995-12165232 This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1 https://www.uniprot.org/uniprot/P15822 https://www.ncbi.nlm.nih.gov/omim/?term=194540 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1 rs2228215 0.219848 0.2687 0.3029 1 0 0 exonic exonic exonic HIVEP1 HIVEP1 ENSG00000095951 synonymous SNV synonymous SNV unknown HIVEP1:NM_002114:exon4:c.A417G:p.Q139Q, HIVEP1:uc003nac.3:exon4:c.A417G:p.Q139Q, UNKNOWN Het;A>G 1647;69|68 Het;A>G 845;71|43 Hom;A>G 3466;2|127 N N - 6 12120588 12120588 C T snp nonsynonymous SNV C560T T187M polar,hydrophilic,neutral hydrophobic,neutral HIVEP1 Hivep1 ENSG00000095951 human immunodeficiency virus type I enhancer binding protein 1 chr6:12008995-12165232 This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1 https://www.uniprot.org/uniprot/P15822 https://www.ncbi.nlm.nih.gov/omim/?term=194540 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1 rs2228209 0.207468 0.2560 0.3001 0.38 5 13 exonic exonic exonic HIVEP1 HIVEP1 ENSG00000095951 nonsynonymous SNV nonsynonymous SNV unknown HIVEP1:NM_002114:exon4:c.C560T:p.T187M, HIVEP1:uc003nac.3:exon4:c.C560T:p.T187M, UNKNOWN Het;C>T 1524;60|66 Het;C>T 1489;72|69 Hom;C>T 3492;0|127 N N - 6 12122174 12122174 A G snp nonsynonymous SNV A2146G T716A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral HIVEP1 Hivep1 ENSG00000095951 human immunodeficiency virus type I enhancer binding protein 1 chr6:12008995-12165232 This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1 https://www.uniprot.org/uniprot/P15822 https://www.ncbi.nlm.nih.gov/omim/?term=194540 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1 rs2228210 0.208267 0.2556 0.3003 0.08 1 13 exonic exonic exonic HIVEP1 HIVEP1 ENSG00000095951 nonsynonymous SNV nonsynonymous SNV unknown HIVEP1:NM_002114:exon4:c.A2146G:p.T716A, HIVEP1:uc003nac.3:exon4:c.A2146G:p.T716A, UNKNOWN Het;A>G 2240;121|105 Het;A>G 1958;103|85 Hom;A>G 4534;4|168 N N - 6 12124855 12124855 G A snp nonsynonymous SNV G4827A M1609I hydrophobic,neutral aliphatic,hydrophobic,neutral HIVEP1 Hivep1 ENSG00000095951 human immunodeficiency virus type I enhancer binding protein 1 chr6:12008995-12165232 This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] Benzodiazepines; Stroke; Venous Thrombosis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; Cholesterol GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0016604;nuclear body;IDA GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IEA|GO:0001206;transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP1 https://www.uniprot.org/uniprot/P15822 https://www.ncbi.nlm.nih.gov/omim/?term=194540 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP1&submit=Quick%0D%2265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP1 rs2228213 0.217053 0.2602 0.2992 0.17 2 12 exonic exonic exonic HIVEP1 HIVEP1 ENSG00000095951 nonsynonymous SNV nonsynonymous SNV unknown HIVEP1:NM_002114:exon4:c.G4827A:p.M1609I, HIVEP1:uc003nac.3:exon4:c.G4827A:p.M1609I, UNKNOWN Het;G>A 1694;91|77 Het;G>A 1915;81|86 Hom;G>A 4512;2|165 N N - 6 121560155 121560155 C T snp intronic TBC1D32 Tbc1d32 ENSG00000146350 TBC1 domain family member 32 chr6:121400640-121655891 This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Echocardiography; Body Mass Index; Cognitive performance ; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. GO:0002088;lens development in camera-type eye;IEA|GO:0003406;retinal pigment epithelium development;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0021915;neural tube development;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043010;camera-type eye development;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0061512;protein localization to cilium;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D32 https://www.uniprot.org/uniprot/Q96NH3 https://www.ncbi.nlm.nih.gov/omim/?term=615867 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D32&submit=Quick%0D%8866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D32 rs12191616 0.260184 0 0 1 0 0 intronic intronic intronic TBC1D32 C6orf170 ENSG00000146350 Na Na Na Na Na Na Het;C>T 526;29|22 Het;C>T 640;18|24 Hom;C>T 1096;0|38 N N - 6 121577370 121577370 T C snp nonsynonymous SNV A1795G I599V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C6orf170 rs7745023 0.260783 0.4403 0.4449 0.08 1 13 exonic exonic exonic TBC1D32 C6orf170 ENSG00000146350 nonsynonymous SNV nonsynonymous SNV unknown TBC1D32:NM_152730:exon16:c.A1795G:p.I599V, C6orf170:uc003pyo.1:exon16:c.A1795G:p.I599V,C6orf170:uc003pyp.1:exon5:c.A352G:p.I118V, UNKNOWN Het;T>C 1115;47|50 Het;T>C 1372;54|57 Hom;T>C 4211;2|158 N N - 6 121920539 121920539 C CT indel intergenic GJA1 Gja1 ENSG00000152661 gap junction protein alpha 1 chr6:121756838-121770873 This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014] Hearing Loss; non-syndromic deafness; Presbycusis; Cleft Lip|Cleft Palate; Bipolar Disorder; null; Type 2 Diabetes| edema | rosiglitazone; normal variation; febrile seizures; hearing impairment|Hearing Loss; protein quantitative trait loci; hypoplastic left heart syndrome; Schizophrenia; gamma-Glutamyltransferase; heart anomalies, congenital Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects. Formation of annular gap junctions GO:0001937;negative regulation of endothelial cell proliferation;IEA|GO:0002544;chronic inflammatory response;IEA|GO:0002931;response to ischemia;IEA|GO:0003104;positive regulation of glomerular filtration;IEA|GO:0003158;endothelium development;IEA|GO:0006810;transport;TAS|GO:0006915;apoptotic process;IEA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007165;signal transduction;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009268;response to pH;IEA|GO:0009749;response to glucose;IEA|GO:0010232;vascular transport;IEA|GO:0010644;cell communication by electrical coupling;IDA|GO:0010652;positive regulation of cell communication by chemical coupling;IEA|GO:0015867;ATP transport;IEA|GO:0016264;gap junction assembly;TAS|GO:0022898;regulation of transmembrane transporter activity;IEA|GO:0030308;negative regulation of cell growth;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032526;response to retinoic acid;IEA|GO:0034220;ion transmembrane transport;IDA|GO:0034405;response to fluid shear stress;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043434;response to peptide hormone;IEA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046697;decidualization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051259;protein oligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0061045;negative regulation of wound healing;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0086014;atrial cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;NAS|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1905867;epididymis development;IEA|GO:2000279;negative regulation of DNA biosynthetic process;IEA|GO:2000810;regulation of bicellular tight junction assembly;IEA|GO:2000987;positive regulation of behavioral fear response;IEA|GO:0001937;negative regulation of endothelial cell proliferation;IEA|GO:0002544;chronic inflammatory response;IEA|GO:0002931;response to ischemia;IEA|GO:0003104;positive regulation of glomerular filtration;IEA|GO:0003158;endothelium development;IEA|GO:0006810;transport;TAS|GO:0006915;apoptotic process;IEA|GO:0006936;muscle contraction;TAS|GO:0007154;cell communication;IEA|GO:0007165;signal transduction;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007507;heart development;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009268;response to pH;IEA|GO:0009749;response to glucose;IEA|GO:0010232;vascular transport;IEA|GO:0010644;cell communication by electrical coupling;IDA|GO:0010652;positive regulation of cell communication by chemical coupling;IEA|GO:0015867;ATP transport;IEA|GO:0016264;gap junction assembly;TAS|GO:0022898;regulation of transmembrane transporter activity;IEA|GO:0030308;negative regulation of cell growth;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032526;response to retinoic acid;IEA|GO:0034220;ion transmembrane transport;IDA|GO:0034405;response to fluid shear stress;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043434;response to peptide hormone;IEA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046697;decidualization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051259;protein oligomerization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0061045;negative regulation of wound healing;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0086014;atrial cardiac muscle cell action potential;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;NAS|GO:0097755;positive regulation of blood vessel diameter;IEA|GO:1905867;epididymis development;IEA|GO:2000279;negative regulation of DNA biosynthetic process;IEA|GO:2000810;regulation of bicellular tight junction assembly;IEA|GO:2000987;positive regulation of behavioral fear response;IEA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005771;multivesicular body;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005916;fascia adherens;IEA|GO:0005921;gap junction;IEA|GO:0005922;connexin complex;TAS|GO:0005925;focal adhesion;IDA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030660;Golgi-associated vesicle membrane;TAS|GO:0043234;protein complex;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IDA|GO:0005243;gap junction channel activity;IDA|GO:0005515;protein binding;IPI|GO:0015075;ion transmembrane transporter activity;IDA|GO:0017124;SH3 domain binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0030165;PDZ domain binding;IEA|GO:0071253;connexin binding;IEA|GO:0086075;gap junction channel activity involved in cardiac conduction electrical coupling;NAS|GO:0097718;disordered domain specific binding;IEA|GO:1903763;gap junction channel activity involved in cell communication by electrical coupling;IDA http://www.genecards.org/index.php?path=/Search/keyword/GJA1 https://www.uniprot.org/uniprot/P17302 https://hpo.jax.org/app/browse/search?q=GJA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=121014 http://www.informatics.jax.org/searchtool/Search.do?query=GJA1&submit=Quick%0D%185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GJA1 rs34898907 0.389377 0 0 1 0 0 intergenic intergenic intergenic GJA1(dist=149649),HSF2(dist=800157) GJA1(dist=149666),HSF2(dist=800157) ENSG00000222659(dist=18872),ENSG00000220326(dist=41616) Na Na Na Na Na Na Het;+T 490;27|28 Het;+T 782;15|41 Hom;+T 877;3|40 N N - 6 123658825 123658825 G T snp intronic TRDN Trdn ENSG00000186439 triadin chr6:123537483-123958238 This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011] Lipids; Glomerulonephritis, IGA; Triglycerides; Tobacco Use Disorder; bipolar disorder Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells. Ion homeostasis GO:0006874;cellular calcium ion homeostasis;ISS|GO:0006936;muscle contraction;TAS|GO:0010649;regulation of cell communication by electrical coupling;TAS|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IBA|GO:0014808;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IEA|GO:0031122;cytoplasmic microtubule organization;ISS|GO:0034220;ion transmembrane transport;TAS|GO:0051279;regulation of release of sequestered calcium ion into cytosol;TAS|GO:0060047;heart contraction;IMP|GO:0060315;negative regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;ISS|GO:0086036;regulation of cardiac muscle cell membrane potential;IBA|GO:0090158;endoplasmic reticulum membrane organization;ISS|GO:1901846;positive regulation of cell communication by electrical coupling involved in cardiac conduction;ISS|GO:1903779;regulation of cardiac conduction;TAS GO:0005783;endoplasmic reticulum;ISS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005891;voltage-gated calcium channel complex;ISS|GO:0014701;junctional sarcoplasmic reticulum membrane;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030314;junctional membrane complex;ISS|GO:0033017;sarcoplasmic reticulum membrane;TAS|GO:0033018;sarcoplasmic reticulum lumen;TAS GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;ISS|GO:0044325;ion channel binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRDN https://hpo.jax.org/app/browse/search?q=TRDN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603283 http://www.informatics.jax.org/searchtool/Search.do?query=TRDN&submit=Quick%0D%15638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRDN rs9401658 0.29373 0.1235 0.2749 1 0 0 intronic intronic intronic TRDN TRDN ENSG00000186439 Na Na Na Na Na Na Het;G>T 124;5|7 Ref Hom;G>T 307;2|15 N N - 6 1251437 1251437 T C snp intergenic LOC285768 rs423358 0.515575 0 0 1 0 0 intergenic intergenic intergenic LOC285768(dist=149870),FOXQ1(dist=61238) AX747250(dist=146256),FOXQ1(dist=61238) ENSG00000238438(dist=64582),ENSG00000164379(dist=61238) Na Na Na Na Na Na Het;T>C 388;5|11 Ref Hom;T>C 352;0|9 N N - 6 132141012 132141012 C T snp ncRNA_exonic AL139805.1 rs943003 0.707468 0 0 1 0 0 intronic intronic ncRNA_exonic ENPP1 ENPP1 ENSG00000219532 Na Na Na Na Na Na Het;C>T 56;1|4 Ref Hom;C>T 101;0|4 N N - 6 13415828 13415828 G T snp intronic GFOD1 Gfod1 ENSG00000145990 glucose-fructose oxidoreductase domain containing 1 chr6:13358062-13487894 ADHD | attention-deficit hyperactivity disorder; smoking cessation; Tobacco Use Disorder; Follicle Stimulating Hormone GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GFOD1 https://www.uniprot.org/uniprot/Q9NXC2 http://www.informatics.jax.org/searchtool/Search.do?query=GFOD1&submit=Quick%0D%8818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFOD1 rs487607 0.713658 0 0 1 0 0 intronic intronic intronic GFOD1 GFOD1 ENSG00000145990 Na Na Na Na Na Na Het;G>T 163;3|8 Het;G>T 38;7|4 Hom;G>T 97;0|4 N N - 6 13416010 13416010 C T snp intronic GFOD1 Gfod1 ENSG00000145990 glucose-fructose oxidoreductase domain containing 1 chr6:13358062-13487894 ADHD | attention-deficit hyperactivity disorder; smoking cessation; Tobacco Use Disorder; Follicle Stimulating Hormone GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GFOD1 https://www.uniprot.org/uniprot/Q9NXC2 http://www.informatics.jax.org/searchtool/Search.do?query=GFOD1&submit=Quick%0D%8818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFOD1 rs485804 0.533347 0 0 1 0 0 intronic intronic intronic GFOD1 GFOD1 ENSG00000145990 Na Na Na Na Na Na Het;C>T 135;11|7 Ref Hom;C>T 257;0|9 N N - 6 13949673 13949673 T C snp ncRNA_exonic MRPL35P1 rs7771397 0.758586 0 0 1 0 0 intronic intronic ncRNA_exonic RNF182 RNF182 ENSG00000220868 Na Na Na Na Na Na Het;T>C 348;20|18 Het;T>C 492;9|21 Hom;T>C 1921;0|73 N N - 6 140299541 140299541 T C snp ncRNA_exonic LOC103352541 rs9495620 0.421326 0 0 1 0 0 ncRNA_exonic ncRNA_intronic intergenic LOC103352541 BC038188 ENSG00000225148(dist=101013),ENSG00000236013(dist=89031) Na Na Na Na Na Na Het;T>C 819;51|37 Het;T>C 815;48|42 Hom;T>C 3115;2|123 N N - 6 146136415 146136415 G C snp ncRNA_exonic LOC100507557 rs62435775 0.256589 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100507557 LOC100507557 ENSG00000235652 Na Na Na Na Na Na Het;G>C 3094;148|137 Het;G>C 2213;101|105 Hom;G>C 6365;0|235 N N - 6 146205304 146205304 A G snp ncRNA_exonic LOC100507557 rs34541797 0.257188 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100507557 LOC100507557 ENSG00000235652 Na Na Na Na Na Na Het;A>G 1413;62|39 Het;A>G 1768;57|47 Hom;A>G 3691;0|82 N N - 6 146205307 146205307 A ACT indel ncRNA_exonic LOC100507557 rs35696519 0.256589 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100507557 LOC100507557 ENSG00000235652 Na Na Na Na Na Na Het;+CT 1398;61|38 Het;+CT 1809;58|46 Hom;+CT 3791;0|84 N N - 6 146208120 146208120 T G snp intronic SHPRH Shprh ENSG00000146414 SNF2 histone linker PHD RING helicase chr6:146185381-146285559 SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder The gene product is an E3 ligase involved in poly-ubiquitination of Pcna. Neither homozygous truncation nor KO affect B cell somatic hypermutation or class switching. E3 ubiquitin ligases ubiquitinate target proteins GO:0000209;protein polyubiquitination;IDA|GO:0006281;DNA repair;IEA|GO:0006334;nucleosome assembly;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0016567;protein ubiquitination;TAS GO:0000786;nucleosome;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/SHPRH https://www.uniprot.org/uniprot/Q149N8 https://www.ncbi.nlm.nih.gov/omim/?term=608048 http://www.informatics.jax.org/searchtool/Search.do?query=SHPRH&submit=Quick%0D%8880ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHPRH rs2243665 0.34984 0 0 1 0 0 intronic intronic intronic SHPRH SHPRH ENSG00000146414 Na Na Na Na Na Na Het;T>G 115;2|4 Ref Hom;T>G 104;0|4 N N - 6 148761456 148761456 G C snp intronic SASH1 Sash1 ENSG00000111961 SAM and SH3 domain containing 1 chr6:148593440-148873186 Alzheimer's Disease; Insulin; Cleft Lip|Cleft Palate|Tooth Abnormalities; Magnesium; Tobacco Use Disorder; Diabetic Nephropathies; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone GO:0000209;protein polyubiquitination;IDA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:1900044;regulation of protein K63-linked ubiquitination;IDA|GO:1900745;positive regulation of p38MAPK cascade;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902498;regulation of protein autoubiquitination;IDA GO:0043234;protein complex;IMP GO:0008022;protein C-terminus binding;IDA|GO:0019901;protein kinase binding;IDA|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IDA|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/SASH1 https://www.uniprot.org/uniprot/O94885 https://hpo.jax.org/app/browse/search?q=SASH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607955 http://www.informatics.jax.org/searchtool/Search.do?query=SASH1&submit=Quick%0D%4164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SASH1 rs2272998 0.46845 0.4088 0.4488 1 0 0 intronic intronic intronic SASH1 SASH1 ENSG00000111961 Na Na Na Na Na Na Het;G>C 1356;53|58 Het;G>C 1478;55|65 Hom;G>C 4294;1|156 N N - 6 148761603 148761603 C A snp UTR3 *56C>A SASH1 Sash1 ENSG00000111961 SAM and SH3 domain containing 1 chr6:148593440-148873186 Alzheimer's Disease; Insulin; Cleft Lip|Cleft Palate|Tooth Abnormalities; Magnesium; Tobacco Use Disorder; Diabetic Nephropathies; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone GO:0000209;protein polyubiquitination;IDA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:1900044;regulation of protein K63-linked ubiquitination;IDA|GO:1900745;positive regulation of p38MAPK cascade;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902498;regulation of protein autoubiquitination;IDA GO:0043234;protein complex;IMP GO:0008022;protein C-terminus binding;IDA|GO:0019901;protein kinase binding;IDA|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IDA|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/SASH1 https://www.uniprot.org/uniprot/O94885 https://hpo.jax.org/app/browse/search?q=SASH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607955 http://www.informatics.jax.org/searchtool/Search.do?query=SASH1&submit=Quick%0D%4164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SASH1 rs9498038 0.467851 0.4028 0 1 0 0 intronic intronic UTR3 SASH1 SASH1 ENSG00000111961(ENST00000367469:c.*56C>A) Na Na Na Na Na Na Het;C>A 463;34|22 Het;C>A 822;32|36 Hom;C>A 1633;0|59 N N - 6 148829952 148829952 G C snp UTR5 -50G>C SASH1 Sash1 ENSG00000111961 SAM and SH3 domain containing 1 chr6:148593440-148873186 Alzheimer's Disease; Insulin; Cleft Lip|Cleft Palate|Tooth Abnormalities; Magnesium; Tobacco Use Disorder; Diabetic Nephropathies; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone GO:0000209;protein polyubiquitination;IDA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:1900044;regulation of protein K63-linked ubiquitination;IDA|GO:1900745;positive regulation of p38MAPK cascade;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902498;regulation of protein autoubiquitination;IDA GO:0043234;protein complex;IMP GO:0008022;protein C-terminus binding;IDA|GO:0019901;protein kinase binding;IDA|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IDA|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/SASH1 https://www.uniprot.org/uniprot/O94885 https://hpo.jax.org/app/browse/search?q=SASH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607955 http://www.informatics.jax.org/searchtool/Search.do?query=SASH1&submit=Quick%0D%4164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SASH1 rs1147863 0.251797 0 0.2403 1 0 0 intronic UTR5 intronic SASH1 SASH1(uc011eeb.1:c.-50G>C) ENSG00000111961 Na Na Na Na Na Na Het;G>C 955;10|39 Het;G>C 748;16|31 Hom;G>C 1754;0|63 N N - 6 148853867 148853867 T C snp intronic SASH1 Sash1 ENSG00000111961 SAM and SH3 domain containing 1 chr6:148593440-148873186 Alzheimer's Disease; Insulin; Cleft Lip|Cleft Palate|Tooth Abnormalities; Magnesium; Tobacco Use Disorder; Diabetic Nephropathies; protein quantitative trait loci; Type 2 Diabetes| edema | rosiglitazone GO:0000209;protein polyubiquitination;IDA|GO:0010595;positive regulation of endothelial cell migration;IDA|GO:0031666;positive regulation of lipopolysaccharide-mediated signaling pathway;IMP|GO:0043507;positive regulation of JUN kinase activity;IMP|GO:0045766;positive regulation of angiogenesis;IMP|GO:1900044;regulation of protein K63-linked ubiquitination;IDA|GO:1900745;positive regulation of p38MAPK cascade;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1902498;regulation of protein autoubiquitination;IDA GO:0043234;protein complex;IMP GO:0008022;protein C-terminus binding;IDA|GO:0019901;protein kinase binding;IDA|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IDA|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/SASH1 https://www.uniprot.org/uniprot/O94885 https://hpo.jax.org/app/browse/search?q=SASH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607955 http://www.informatics.jax.org/searchtool/Search.do?query=SASH1&submit=Quick%0D%4164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SASH1 rs1465307 0.477636 0 0 1 0 0 intronic intronic intronic SASH1 SASH1 ENSG00000111961 Na Na Na Na Na Na Het;T>C 1210;40|40 Het;T>C 1232;32|42 Hom;T>C 2014;0|61 N N - 6 149235196 149235196 G T snp intronic UST Ust ENSG00000111962 uronyl 2-sulfotransferase chr6:149068464-149398126 Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008] Antidepressive Agents; Erythrocytes; Erythrocyte Count; Tunica Media; Body Height; Celiac Disease|; Coronary Artery Disease; Myocardial Infarction; Tobacco Use Disorder; Blood Pressure Dermatan sulfate biosynthesis GO:0006477;protein sulfation;TAS|GO:0030010;establishment of cell polarity;IEA|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0050770;regulation of axonogenesis;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0008146;sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UST https://www.uniprot.org/uniprot/Q9Y2C2 https://www.ncbi.nlm.nih.gov/omim/?term=610752 http://www.informatics.jax.org/searchtool/Search.do?query=UST&submit=Quick%0D%4165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UST rs11965252 0.197284 0 0 1 0 0 intronic intronic intronic UST UST ENSG00000111962 Na Na Na Na Na Na Het;G>T 35;3|2 Het;G>T 103;8|6 Hom;G>T 321;0|13 N N - 6 149235313 149235313 T C snp intronic UST Ust ENSG00000111962 uronyl 2-sulfotransferase chr6:149068464-149398126 Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008] Antidepressive Agents; Erythrocytes; Erythrocyte Count; Tunica Media; Body Height; Celiac Disease|; Coronary Artery Disease; Myocardial Infarction; Tobacco Use Disorder; Blood Pressure Dermatan sulfate biosynthesis GO:0006477;protein sulfation;TAS|GO:0030010;establishment of cell polarity;IEA|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0050770;regulation of axonogenesis;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0008146;sulfotransferase activity;TAS|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UST https://www.uniprot.org/uniprot/Q9Y2C2 https://www.ncbi.nlm.nih.gov/omim/?term=610752 http://www.informatics.jax.org/searchtool/Search.do?query=UST&submit=Quick%0D%4165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UST rs9404003 0.438498 0 0 1 0 0 intronic intronic intronic UST UST ENSG00000111962 Na Na Na Na Na Na Het;T>C 335;16|18 Het;T>C 653;14|30 Hom;T>C 739;0|27 N N - 6 14935379 14935379 C T snp intergenic LINC01108 rs369873 0.404752 0 0 1 0 0 intergenic intergenic intergenic LINC01108(dist=649694),JARID2(dist=310827) CD83(dist=798231),JARID2(dist=310355) ENSG00000206960(dist=288510),ENSG00000234261(dist=41640) Na Na Na Na Na Na Het;C>T 255;5|13 Het;C>T 270;6|13 Hom;C>T 554;0|20 N N - 6 149700805 149700805 G A snp intronic TAB2 Tab2 ENSG00000055208 TGF-beta activated kinase 1/MAP3K7 binding protein 2 chr6:149539777-149732749 The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] hemostatic factors and hematological phenotypes; Graves' disease; rheumatoid arthritis; Myocardial Infarction; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5. IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation GO:0000187;activation of MAPK activity;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007254;JNK cascade;TAS|GO:0007507;heart development;IMP|GO:0010507;negative regulation of autophagy;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0045860;positive regulation of protein kinase activity;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070530;K63-linked polyubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TAB2 https://www.uniprot.org/uniprot/Q9NYJ8 https://hpo.jax.org/app/browse/search?q=TAB2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605101 http://www.informatics.jax.org/searchtool/Search.do?query=TAB2&submit=Quick%0D%994ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAB2 rs2031450 0.867013 0 0 1 0 0 intronic intronic intronic TAB2 TAB2 ENSG00000055208 Na Na Na Na Na Na Het;G>A 221;13|8 Ref Hom;G>A 166;0|5 N N - 6 151121760 151121760 T C snp intronic PLEKHG1 Plekhg1 ENSG00000120278 pleckstrin homology and RhoGEF domain containing G1 chr6:150920999-151164799 Metabolism; Osteoporosis; Triglycerides; Alcoholism; Tobacco Use Disorder; Cholesterol, HDL; panic disorder; Coronary Artery Disease GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG1 https://www.uniprot.org/uniprot/Q9ULL1 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG1&submit=Quick%0D%5187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG1 rs2073062 0.483427 0 0 1 0 0 intronic intronic intronic PLEKHG1 PLEKHG1 ENSG00000120278 Na Na Na Na Na Na Het;T>C 495;8|18 Het;T>C 134;9|5 Hom;T>C 604;0|17 N N - 6 151121915 151121915 G A snp synonymous SNV G690A E230E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PLEKHG1 Plekhg1 ENSG00000120278 pleckstrin homology and RhoGEF domain containing G1 chr6:150920999-151164799 Metabolism; Osteoporosis; Triglycerides; Alcoholism; Tobacco Use Disorder; Cholesterol, HDL; panic disorder; Coronary Artery Disease GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG1 https://www.uniprot.org/uniprot/Q9ULL1 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG1&submit=Quick%0D%5187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG1 rs2073061 0.652756 0.5668 0.5433 1 0 0 exonic exonic exonic PLEKHG1 PLEKHG1 ENSG00000120278 synonymous SNV synonymous SNV unknown PLEKHG1:NM_001029884:exon7:c.G690A:p.E230E, PLEKHG1:uc011eel.1:exon6:c.G810A:p.E270E,PLEKHG1:uc003qnz.2:exon6:c.G690A:p.E230E,PLEKHG1:uc003qny.1:exon7:c.G690A:p.E230E,PLEKHG1:uc011eem.1:exon6:c.G867A:p.E289E, UNKNOWN Het;G>A 2461;115|116 Het;G>A 1413;87|73 Hom;G>A 5112;0|202 N N - 6 151125896 151125896 G A snp intronic PLEKHG1 Plekhg1 ENSG00000120278 pleckstrin homology and RhoGEF domain containing G1 chr6:150920999-151164799 Metabolism; Osteoporosis; Triglycerides; Alcoholism; Tobacco Use Disorder; Cholesterol, HDL; panic disorder; Coronary Artery Disease GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG1 https://www.uniprot.org/uniprot/Q9ULL1 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG1&submit=Quick%0D%5187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG1 rs712218 0.515176 0.4938 0.5036 1 0 0 intronic intronic intronic PLEKHG1 PLEKHG1 ENSG00000120278 Na Na Na Na Na Na Het;G>A 1672;125|76 Het;G>A 1787;82|81 Hom;G>A 5709;0|207 N N - 6 153415217 153415217 C CT indel intronic RGS17 Rgs17 ENSG00000091844 regulator of G protein signaling 17 chr6:153325594-153452384 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] chronic obstructive pulmonary disease; Blood Pressure; lung cancer; esophageal adenocarcinoma; Heart Failure; Tobacco Use Disorder; bladder cancer; Lipoprotein(a); lung cancer ; Adiponectin G alpha (z) signalling events GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IBA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS17 https://www.uniprot.org/uniprot/Q9UGC6 https://www.ncbi.nlm.nih.gov/omim/?term=607191 http://www.informatics.jax.org/searchtool/Search.do?query=RGS17&submit=Quick%0D%2165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS17 rs11371951 0.384784 0 0 1 0 0 intronic intronic intronic RGS17 RGS17 ENSG00000091844 Na Na Na Na Na Na Het;+T 768;54|46 Het;+T 1498;15|76 Hom;+T 2136;17|107 N N - 6 153415368 153415368 G A snp intronic RGS17 Rgs17 ENSG00000091844 regulator of G protein signaling 17 chr6:153325594-153452384 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] chronic obstructive pulmonary disease; Blood Pressure; lung cancer; esophageal adenocarcinoma; Heart Failure; Tobacco Use Disorder; bladder cancer; Lipoprotein(a); lung cancer ; Adiponectin G alpha (z) signalling events GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IBA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS17 https://www.uniprot.org/uniprot/Q9UGC6 https://www.ncbi.nlm.nih.gov/omim/?term=607191 http://www.informatics.jax.org/searchtool/Search.do?query=RGS17&submit=Quick%0D%2165ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS17 rs6557261 0.554113 0 0 1 0 0 intronic intronic intronic RGS17 RGS17 ENSG00000091844 Na Na Na Na Na Na Het;G>A 122;6|5 Ref Hom;G>A 266;0|8 N N - 6 155485914 155485914 G C snp intronic TIAM2 Tiam2 ENSG00000146426 T-cell lymphoma invasion and metastasis 2 chr6:155153831-155578857 This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Bipolar Disorder; Lipoprotein(a) Mcie heterozygous for a knock-out allele exhibit reduced transmission of the t-haplotype. G alpha (12/13) signalling events GO:0007165;signal transduction;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0005057;signal transducer activity, downstream of receptor;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIAM2 https://www.uniprot.org/uniprot/Q8IVF5 https://www.ncbi.nlm.nih.gov/omim/?term=604709 http://www.informatics.jax.org/searchtool/Search.do?query=TIAM2&submit=Quick%0D%8883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIAM2 rs1032142 0.577676 0 0 1 0 0 intronic intronic intronic TIAM2 TIAM2 ENSG00000146426 Na Na Na Na Na Na Het;G>C 121;2|4 Ref Hom;G>C 132;0|4 N N - 6 158570024 158570024 A AT indel intronic SERAC1 Serac1 ENSG00000122335 serine active site containing 1 chr6:158530536-158589312 The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012] Magnesium; Heart Failure; Tobacco Use Disorder GO:0006629;lipid metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERAC1 https://www.uniprot.org/uniprot/Q96JX3 https://hpo.jax.org/app/browse/search?q=SERAC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614725 http://www.informatics.jax.org/searchtool/Search.do?query=SERAC1&submit=Quick%0D%5400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERAC1 rs398110877 0.396366 0.3964 0.3982 1 0 0 intronic intronic intronic SERAC1 SERAC1 ENSG00000122335 Na Na Na Na Na Na Het;+T 183;14|11 Het;+T 270;3|15 Hom;+T 378;1|17 N N - 6 158882455 158882455 A AAAG indel intronic TULP4 Tulp4 ENSG00000130338 tubby like protein 4 chr6:158733692-158932860 Atrial Natriuretic Factor; Lipoprotein(a); Tobacco Use Disorder Neddylation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS|GO:0061512;protein localization to cilium;IBA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IBA GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TULP4 https://www.uniprot.org/uniprot/Q9NRJ4 http://www.informatics.jax.org/searchtool/Search.do?query=TULP4&submit=Quick%0D%6357ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TULP4 rs113168644 0.532548 0 0 1 0 0 intronic intronic intronic TULP4 TULP4 ENSG00000130338 Na Na Na Na Na Na Het;+AAG 251;2|7 Ref Hom;+AAG 368;0|9 N N - 6 158882459 158882459 G A snp intronic TULP4 Tulp4 ENSG00000130338 tubby like protein 4 chr6:158733692-158932860 Atrial Natriuretic Factor; Lipoprotein(a); Tobacco Use Disorder Neddylation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS|GO:0061512;protein localization to cilium;IBA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IBA GO:0035091;phosphatidylinositol binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TULP4 https://www.uniprot.org/uniprot/Q9NRJ4 http://www.informatics.jax.org/searchtool/Search.do?query=TULP4&submit=Quick%0D%6357ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TULP4 rs5027295 0.421526 0 0 1 0 0 intronic intronic intronic TULP4 TULP4 ENSG00000130338 Na Na Na Na Na Na Het;G>A 260;2|7 Ref Hom;G>A 477;0|12 N N - 6 160218957 160218957 C T snp intronic MRPL18 Mrpl18 ENSG00000112110 mitochondrial ribosomal protein L18 chr6:160210844-160219468 This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial translation termination GO:0006412;translation;NAS|GO:0006810;transport;IEA|GO:0035928;rRNA import into mitochondrion;IDA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IEA|GO:0003735;structural constituent of ribosome;NAS|GO:0008097;5S rRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MRPL18 https://www.uniprot.org/uniprot/Q9H0U6 https://www.ncbi.nlm.nih.gov/omim/?term=611831 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL18&submit=Quick%0D%4181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL18 rs2342479 0.377196 0 0 1 0 0 intronic intronic intronic MRPL18 MRPL18 ENSG00000112110 Na Na Na Na Na Na Het;C>T 41;2|2 Het;C>T 51;1|3 Hom;C>T 97;0|3 N N - 6 160237190 160237190 C CA indel intronic PNLDC1 Pnldc1 ENSG00000146453 PARN like, ribonuclease domain containing 1 chr6:160221298-160241736 Waist-Hip Ratio; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases Homozygous knockout causes defects in piRNA 3' end trimming, transposon gene silencing, and spermatogenesis, leading to male infertility. GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IEA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004535;poly(A)-specific ribonuclease activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNLDC1 https://www.uniprot.org/uniprot/Q8NA58 http://www.informatics.jax.org/searchtool/Search.do?query=PNLDC1&submit=Quick%0D%8885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNLDC1 Na 0 0 0 1 0 0 intronic intronic intronic PNLDC1 PNLDC1 ENSG00000146453 Na Na Na Na Na Na Het;+A 170;1|5 Ref Hom;+A 171;0|6 N N - 6 160237192 160237192 C CCG indel intronic PNLDC1 Pnldc1 ENSG00000146453 PARN like, ribonuclease domain containing 1 chr6:160221298-160241736 Waist-Hip Ratio; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases Homozygous knockout causes defects in piRNA 3' end trimming, transposon gene silencing, and spermatogenesis, leading to male infertility. GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;IEA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0004535;poly(A)-specific ribonuclease activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNLDC1 https://www.uniprot.org/uniprot/Q8NA58 http://www.informatics.jax.org/searchtool/Search.do?query=PNLDC1&submit=Quick%0D%8885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNLDC1 Na 0 0 0 1 0 0 intronic intronic intronic PNLDC1 PNLDC1 ENSG00000146453 Na Na Na Na Na Na Het;+CG 170;1|5 Ref Hom;+CG 171;0|6 N N - 6 167413230 167413230 A G snp ncRNA_intronic Z94721.2 rs239933 0.388578 0 0 1 0 0 intronic intronic ncRNA_intronic FGFR1OP CCR6,FGFR1OP ENSG00000272980 Na Na Na Na Na Na Het;A>G 74;4|4 Ref Hom;A>G 175;0|5 N N - 6 16761102 16761102 T C snp intronic ATXN1 Atxn1 ENSG00000124788 ataxin 1 chr6:16299343-16761722 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016] Creatinine; Myocardial Infarction; Amyotrophic lateral sclerosis; Parkinson's disease; Amyotrophic Lateral Sclerosis; Life Expectancy; spinocerebellar ataxia; Huntington's disease; myotonic dystrophy; Alzheimer Disease; Heart Failure; Body Mass Index; myotonic dystrophy type 1; Metabolism; Genomic Instability|Spinocerebellar Ataxias; schizophrenia; schizoaffective disorder; bipolar disorder; schizophrenia; Spinocerebellar Ataxias; Eosinophils; Cerebellar Ataxia|; Stroke; cognitive function; restless legs syndrome; trinucleotide expansion disease; Coronary Artery Disease; Body Height; Lipoproteins; spinocerebellar ataxia; carotid artery intima-media thickness; spinocerebellar ataxia; Huntington's disease; myotonic dystrophy; Tobacco Use Disorder; Macular Degeneration; Alzheimer's disease; Body Weight Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006396;RNA processing;NAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051168;nuclear export;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IDA|GO:0042272;nuclear RNA export factor complex;IDA|GO:0042405;nuclear inclusion body;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0008266;poly(U) RNA binding;IDA|GO:0034046;poly(G) binding;IDA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IDA http://www.genecards.org/index.php?path=/Search/keyword/ATXN1 https://www.uniprot.org/uniprot/P54253 https://hpo.jax.org/app/browse/search?q=ATXN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601556 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN1&submit=Quick%0D%5718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN1 rs591941 0.690096 0 0 1 0 0 intronic intronic intronic ATXN1 ATXN1 ENSG00000124788 Na Na Na Na Na Na Het;T>C 103;2|7 Ref Hom;T>C 160;1|8 N N - 6 167751994 167751994 C CAG indel intronic TTLL2 Ttll2 ENSG00000120440 tubulin tyrosine ligase like 2 chr6:167738574-167772991 Body Height Carboxyterminal post-translational modifications of tubulin GO:0006464;cellular protein modification process;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTLL2 https://www.uniprot.org/uniprot/Q9BWV7 http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2 rs10622652 0.797125 0 0 1 0 0 intronic intronic intronic TTLL2 TTLL2 ENSG00000120440 Na Na Na Na Na Na Het;+AG 80;3|3 Ref Hom;+AG 143;0|4 N N - 6 168115200 168115200 G A snp intergenic LOC441178 rs586665 0.710463 0 0 1 0 0 intergenic intergenic intergenic LOC441178(dist=30733),LINC01558(dist=70019) AL832737(dist=18230),C6orf123(dist=70019) ENSG00000203688(dist=30733),ENSG00000213065(dist=52563) Na Na Na Na Na Na Het;G>A 50;2|2 Ref Hom;G>A 148;0|6 N N - 6 169575324 169575324 C T snp downstream AL136129.1 rs79940697 0.0261581 0 0 1 0 0 downstream downstream downstream LOC101929504 AF086258 ENSG00000261039 Na Na Na Na Na Na Het;C>T 314;8|14 Ref Hom;C>T 157;0|5 N N - 6 170352571 170352571 G C snp intergenic LINC00574 rs6456192 0.611422 0 0 1 0 0 intergenic intergenic intergenic LINC00574(dist=149602),LOC102724511(dist=123295) LINC00574(dist=149602),LOC154449(dist=210851) ENSG00000236173(dist=142373),ENSG00000232197(dist=125170) Na Na Na Na Na Na Het;G>C 79;6|5 Ref Hom;G>C 152;0|5 N N - 6 1742794 1742794 A G snp synonymous SNV T708C D236D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) GMDS Gmds ENSG00000112699 GDP-mannose 4,6-dehydratase chr6:1624041-2245926 GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] Tobacco Use Disorder GDP-fucose biosynthesis GO:0007219;Notch signaling pathway;ISS|GO:0019673;GDP-mannose metabolic process;IDA|GO:0042351;'de novo' GDP-L-fucose biosynthetic process;IDA GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008446;GDP-mannose 4,6-dehydratase activity;TAS|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0070401;NADP+ binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GMDS https://www.uniprot.org/uniprot/O60547 https://www.ncbi.nlm.nih.gov/omim/?term=602884 http://www.informatics.jax.org/searchtool/Search.do?query=GMDS&submit=Quick%0D%4279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GMDS rs3734739 0.486821 0.4050 0.4831 1 0 0 exonic exonic exonic GMDS GMDS ENSG00000112699 synonymous SNV synonymous SNV unknown GMDS:NM_001253846:exon8:c.T708C:p.D236D,GMDS:NM_001500:exon8:c.T798C:p.D266D, GMDS:uc021ykn.1:exon8:c.T708C:p.D236D,GMDS:uc003mtq.3:exon8:c.T798C:p.D266D, UNKNOWN Het;A>G 1551;64|66 Het;A>G 1421;73|66 Hom;A>G 2961;2|117 N N - 6 1742908 1742908 C G snp intronic GMDS Gmds ENSG00000112699 GDP-mannose 4,6-dehydratase chr6:1624041-2245926 GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] Tobacco Use Disorder GDP-fucose biosynthesis GO:0007219;Notch signaling pathway;ISS|GO:0019673;GDP-mannose metabolic process;IDA|GO:0042351;'de novo' GDP-L-fucose biosynthetic process;IDA GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008446;GDP-mannose 4,6-dehydratase activity;TAS|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0070401;NADP+ binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GMDS https://www.uniprot.org/uniprot/O60547 https://www.ncbi.nlm.nih.gov/omim/?term=602884 http://www.informatics.jax.org/searchtool/Search.do?query=GMDS&submit=Quick%0D%4279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GMDS rs3734740 0.487021 0 0 1 0 0 intronic intronic intronic GMDS GMDS ENSG00000112699 Na Na Na Na Na Na Het;C>G 619;16|22 Het;C>G 305;18|12 Hom;C>G 579;0|18 N N - 6 1742994 1742994 C T snp intronic GMDS Gmds ENSG00000112699 GDP-mannose 4,6-dehydratase chr6:1624041-2245926 GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] Tobacco Use Disorder GDP-fucose biosynthesis GO:0007219;Notch signaling pathway;ISS|GO:0019673;GDP-mannose metabolic process;IDA|GO:0042351;'de novo' GDP-L-fucose biosynthetic process;IDA GO:0005737;cytoplasm;IC|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008446;GDP-mannose 4,6-dehydratase activity;TAS|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0070401;NADP+ binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GMDS https://www.uniprot.org/uniprot/O60547 https://www.ncbi.nlm.nih.gov/omim/?term=602884 http://www.informatics.jax.org/searchtool/Search.do?query=GMDS&submit=Quick%0D%4279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GMDS rs3734741 0.487021 0 0 1 0 0 intronic intronic intronic GMDS GMDS ENSG00000112699 Na Na Na Na Na Na Het;C>T 128;5|5 Het;C>T 64;1|3 Hom;C>T 76;0|3 N N - 6 18185858 18185858 A G snp intronic KDM1B Kdm1b ENSG00000165097 lysine demethylase 1B chr6:18155560-18224084 Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009] Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5. UCH proteinases GO:0006349;regulation of gene expression by genetic imprinting;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0034720;histone H3-K4 demethylation;IDA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0044030;regulation of DNA methylation;ISS|GO:0055114;oxidation-reduction process;IEA GO:0000786;nucleosome;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0032452;histone demethylase activity;TAS|GO:0034648;histone demethylase activity (H3-dimethyl-K4 specific);IDA|GO:0034649;histone demethylase activity (H3-monomethyl-K4 specific);IDA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0071949;FAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KDM1B https://www.ncbi.nlm.nih.gov/omim/?term=613081 http://www.informatics.jax.org/searchtool/Search.do?query=KDM1B&submit=Quick%0D%11465ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM1B rs609363 0.105232 0 0 1 0 0 intronic intronic intronic KDM1B KDM1B ENSG00000165097 Na Na Na Na Na Na Het;A>G 120;2|4 Het;A>G 155;5|6 Hom;A>G 139;0|4 N N - 6 20042802 20042802 T C snp ncRNA_exonic AL008627.1 rs11757690 0.170927 0 0 1 0 0 intergenic intergenic ncRNA_exonic ID4(dist=200371),MBOAT1(dist=57114) ID4(dist=200371),MBOAT1(dist=57114) ENSG00000229700 Na Na Na Na Na Na Het;T>C 88;2|5 Ref Hom;T>C 71;0|4 N N - 6 20546888 20546888 T G snp intronic CDKAL1 Cdkal1 ENSG00000145996 CDK5 regulatory subunit associated protein 1 like 1 chr6:20534688-21232635 The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010] Crohn Disease|Diabetes Mellitus, Type 2|Psoriasis; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation; type 2 diabetes; Diabetes Mellitus|; atherosclerosis; Body Mass Index; Crohn Disease|; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Diabetes Mellitus|Diabetes Mellitus, Type 2|; null; Diabetes Mellitus; Crohn's disease; Hemoglobin A, Glycosylated; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Psoriasis; Posttransplantation diabetes mellitus (PTDM); diabetes, type 2 | diabetes, type 1; Psoriasis; Diabetes Mellitus, Type 2; Diabetes, Gestational; Type 2 diabetes; obesity|BMI; diabetes, type 2; Type 2 Diabetes| edema | rosiglitazone; Heart Failure; glucose homeostasis; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Stroke; BMI; Abortion, Spontaneous; Crohn Disease|Crohn's disease; Calcinosis|Coronary Artery Disease|Diabetes mellitus; Albuminuria; type 2 diabetes and other traits; polycystic ovary syndrome; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Myocardial Infarction; diabetes, type 2 triglycerides; ulcerative colitis; Diabetes Mellitus, Type 2|Insulin Resistance; obesity; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; Crohn Disease; Type 2 diabetes|reduced prostate cancer risk; Crohn Disease|Rectal Fistula; Tobacco Use Disorder Mice homozygous for a targeted allele exhibit impaired tRNALys modification. Mice homozygous for a gene trap allele exhibit altered glucose homeostasis and lipid accumulation at early stages when fed a high fat diet. tRNA modification in the nucleus and cytosol GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0008150;biological_process;ND|GO:0009451;RNA modification;IEA|GO:0035600;tRNA methylthiolation;IEA|GO:0043412;macromolecule modification;IEA|GO:1990145;maintenance of translational fidelity;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0035598;N6-threonylcarbomyladenosine methylthiotransferase activity;EXP|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA|GO:0061712;tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDKAL1 https://www.uniprot.org/uniprot/Q5VV42 https://www.ncbi.nlm.nih.gov/omim/?term=611259 http://www.informatics.jax.org/searchtool/Search.do?query=CDKAL1&submit=Quick%0D%8819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDKAL1 rs9465800 0.825879 0 0 1 0 0 intronic intronic intronic CDKAL1 CDKAL1 ENSG00000145996 Na Na Na Na Na Na Het;T>G 162;3|5 Ref Hom;T>G 180;0|5 N N - 6 21596315 21596315 G A snp UTR3 *125G>A SOX4 Sox4 ENSG00000124766 SRY-box 4 chr6:21593972-21598847 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008] Bone Mineral Density Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. Deactivation of the beta-catenin transactivating complex GO:0001501;skeletal system development;IEA|GO:0001841;neural tube formation;IEA|GO:0002328;pro-B cell differentiation;IEA|GO:0003183;mitral valve morphogenesis;IEA|GO:0003211;cardiac ventricle formation;IEA|GO:0003215;cardiac right ventricle morphogenesis;IEA|GO:0003289;atrial septum primum morphogenesis;IEA|GO:0003357;noradrenergic neuron differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IMP|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0014009;glial cell proliferation;IEA|GO:0021510;spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021782;glial cell development;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0031397;negative regulation of protein ubiquitination;IMP|GO:0031647;regulation of protein stability;IMP|GO:0032024;positive regulation of insulin secretion;IEA|GO:0035019;somatic stem cell population maintenance;IEA|GO:0035910;ascending aorta morphogenesis;IEA|GO:0042593;glucose homeostasis;IEA|GO:0042769;DNA damage response, detection of DNA damage;IDA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045727;positive regulation of translation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0048485;sympathetic nervous system development;IEA|GO:0050821;protein stabilization;IMP|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060174;limb bud formation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060563;neuroepithelial cell differentiation;IEA|GO:0060993;kidney morphogenesis;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:2000761;positive regulation of N-terminal peptidyl-lysine acetylation;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0044798;nuclear transcription factor complex;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0001071;nucleic acid binding transcription factor activity;IMP|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOX4 https://www.uniprot.org/uniprot/Q06945 https://www.ncbi.nlm.nih.gov/omim/?term=184430 http://www.informatics.jax.org/searchtool/Search.do?query=SOX4&submit=Quick%0D%5708ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX4 rs79958549 0.014377 0 0 1 0 0 UTR3 UTR3 UTR3 SOX4(NM_003107:c.*125G>A) SOX4(uc003ndi.3:c.*125G>A) ENSG00000124766(ENST00000244745:c.*125G>A) Na Na Na Na Na Na Het;G>A 123;3|6 Het;G>A 35;13|3 Hom;G>A 114;0|6 N N - 6 21866126 21866130 AAAAT A indel ncRNA_intronic LINC00340 rs141671374 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CASC15 LINC00340 ENSG00000272168 Na Na Na Na Na Na Het;-AAAT 83;2|3 Ref Hom;-AAAT 143;0|4 N N - 6 22194614 22194616 CAA C indel ncRNA_exonic CASC15 rs398000887 0.457268 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic CASC15 LINC00340 ENSG00000272168 Na Na Na Na Na Na Het;-AA 253;15|14 Ref Hom;-AA 674;4|23 N N - 6 2296762 2296762 G T snp ncRNA_intronic LOC100508120 rs59711442 0.251398 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic GMDS-AS1 LOC100508120 ENSG00000250903 Na Na Na Na Na Na Het;G>T 38;7|4 Het;G>T 73;7|5 Hom;G>T 284;0|11 N N - 6 2513947 2513947 A C snp intergenic GMDS-AS1 rs58425201 0.254593 0 0 1 0 0 intergenic intergenic intergenic GMDS-AS1(dist=100122),C6orf195(dist=109025) AK091028(dist=29684),C6orf195(dist=109025) ENSG00000250903(dist=31691),ENSG00000164385(dist=108200) Na Na Na Na Na Na Het;A>C 616;13|26 Het;A>C 649;14|31 Hom;A>C 1299;0|47 N N - 6 25279839 25279840 CT C indel UTR5 -185_-184delinsC CARMIL1 rs377675604 0.713658 0 0 1 0 0 UTR5 UTR5 UTR5 LRRC16A(NM_001173977:c.-185_-184delinsC,NM_017640:c.-185_-184delinsC) LRRC16A(uc010jpy.3:c.-185_-184delinsC,uc011djw.2:c.-185_-184delinsC) ENSG00000079691(ENST00000329474:c.-185_-184delinsC) Na Na Na Na Na Na Het;-T 226;2|14 Het;-T 158;3|11 Hom;-T 222;0|10 N N - 6 2563775 2563775 C T snp intergenic GMDS-AS1 rs17208835 0.21246 0 0 1 0 0 intergenic intergenic intergenic GMDS-AS1(dist=149950),C6orf195(dist=59197) AK091028(dist=79512),C6orf195(dist=59197) ENSG00000250903(dist=81519),ENSG00000164385(dist=58372) Na Na Na Na Na Na Het;C>T 91;15|6 Het;C>T 125;10|6 Hom;C>T 629;0|22 N N - 6 26394362 26394362 G T snp UTR3 *1167G>T BTN2A2 Btn2a2 ENSG00000124508 butyrophilin subfamily 2 member A2 chr6:26383324-26395102 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] schizophrenia Butyrophilin (BTN) family interactions GO:0031324;negative regulation of cellular metabolic process;ISS|GO:0046007;negative regulation of activated T cell proliferation;ISS|GO:0050710;negative regulation of cytokine secretion;ISS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BTN2A2 https://www.uniprot.org/uniprot/Q8WVV5 https://www.ncbi.nlm.nih.gov/omim/?term=613591 http://www.informatics.jax.org/searchtool/Search.do?query=BTN2A2&submit=Quick%0D%5670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTN2A2 rs55674248 0.0299521 0 0 1 0 0 UTR3 UTR3 UTR3 BTN2A2(NM_006995:c.*1167G>T,NM_001197240:c.*1839G>T,NM_001197239:c.*1167G>T,NM_181531:c.*1167G>T,NM_001197237:c.*1167G>T) BTN2A2(uc003nhq.3:c.*1167G>T,uc003nhr.3:c.*1167G>T,uc011dkh.2:c.*1167G>T,uc011dkg.2:c.*1839G>T,uc003nht.3:c.*1167G>T) ENSG00000124508(ENST00000356709:c.*1167G>T,ENST00000352867:c.*1167G>T) Na Na Na Na Na Na Het;G>T 90;11|5 Het;G>T 296;2|9 Hom;G>T 168;0|5 N N - 6 2838102 2838102 G A snp intronic SERPINB1 Serpinb1a ENSG00000021355 serpin family B member 1 chr6:2832566-2842240 The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Hyperparathyroidism, Secondary; atherosclerosis Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D. Neutrophil degranulation GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINB1 https://www.uniprot.org/uniprot/P30740 https://www.ncbi.nlm.nih.gov/omim/?term=130135 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB1&submit=Quick%0D%662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB1 rs316340 0.41853 0.3974 0.4949 1 0 0 intronic intronic intronic SERPINB1 SERPINB1 ENSG00000021355 Na Na Na Na Na Na Het;G>A 1074;52|50 Het;G>A 707;38|33 Hom;G>A 2448;0|86 N N - 6 2876535 2876535 G A snp ncRNA_exonic SERPINB9P1 rs318429 0.484625 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SERPINB9P1 MGC39372 ENSG00000230438 Na Na Na Na Na Na Het;G>A 241;29|16 Het;G>A 293;22|14 Hom;G>A 1333;0|44 N N - 6 292833 292833 G A snp intronic DUSP22 Dusp22 ENSG00000112679 dual specificity phosphatase 22 chr6:291630-351355 Celiac Disease GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0000188;inactivation of MAPK activity;TAS|GO:0002710;negative regulation of T cell mediated immunity;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IBA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042127;regulation of cell proliferation;IBA|GO:0046330;positive regulation of JNK cascade;IBA|GO:0050860;negative regulation of T cell receptor signaling pathway;IEA|GO:0050868;negative regulation of T cell activation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DUSP22 https://www.uniprot.org/uniprot/Q9NRW4 https://www.ncbi.nlm.nih.gov/omim/?term=616778 http://www.informatics.jax.org/searchtool/Search.do?query=DUSP22&submit=Quick%0D%4275ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP22 rs815596 0 0 0 1 0 0 intronic intronic intronic DUSP22 DUSP22 ENSG00000112679 Na Na Na Na Na Na Het;G>A 107;3|4 Ref Hom;G>A 96;0|5 N N - 6 3022949 3022953 CAAAT C indel ncRNA_exonic HTATSF1P2 rs143152324 0.701677 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic HTATSF1P2 HTATSF1P2 ENSG00000270346 Na Na Na Na Na Na Het;-AAAT 441;17|13 Het;-AAAT 127;7|5 Hom;-AAAT 757;0|18 N N - 6 3024583 3024583 T G snp ncRNA_exonic HTATSF1P2 rs62392501 0.712859 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream HTATSF1P2 HTATSF1P2 ENSG00000261015,ENSG00000271361 Na Na Na Na Na Na Het;T>G 2153;79|58 Het;T>G 1187;82|57 Hom;T>G 5176;0|117 N N - 6 3024584 3024584 G A snp ncRNA_exonic HTATSF1P2 rs62392502 0.712859 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream HTATSF1P2 HTATSF1P2 ENSG00000261015,ENSG00000271361 Na Na Na Na Na Na Het;G>A 2193;79|58 Het;G>A 2254;79|60 Hom;G>A 5176;0|114 N N - 6 3024586 3024586 C A snp ncRNA_exonic HTATSF1P2 rs35794474 0.712859 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream HTATSF1P2 HTATSF1P2 ENSG00000261015,ENSG00000271361 Na Na Na Na Na Na Het;C>A 2193;80|59 Het;C>A 2254;78|60 Hom;C>A 5102;0|113 N N - 6 3025144 3025144 T C snp ncRNA_exonic ENSG00000261015 rs1040862 0.765176 0 0 1 0 0 upstream upstream ncRNA_exonic HTATSF1P2 HTATSF1P2 ENSG00000261015 Na Na Na Na Na Na Het;T>C 2088;112|96 Het;T>C 1682;93|79 Hom;T>C 5680;0|210 N N - 6 3025533 3025533 C T snp ncRNA_exonic ENSG00000261015 rs6907734 0.765176 0 0 1 0 0 upstream upstream ncRNA_exonic HTATSF1P2 HTATSF1P2 ENSG00000261015 Na Na Na Na Na Na Het;C>T 169;10|7 Het;C>T 365;6|12 Hom;C>T 434;0|15 N N - 6 3025581 3025581 A T snp ncRNA_exonic ENSG00000261015 rs6929830 0.765176 0 0 1 0 0 upstream upstream ncRNA_exonic HTATSF1P2 HTATSF1P2 ENSG00000261015 Na Na Na Na Na Na Het;A>T 97;3|4 Het;A>T 192;3|7 Hom;A>T 374;0|12 N N - 6 3025758 3025758 C T snp ncRNA_exonic ENSG00000261015 rs6908124 0.819688 0 0 1 0 0 upstream upstream ncRNA_exonic HTATSF1P2 HTATSF1P2 ENSG00000261015 Na Na Na Na Na Na Het;C>T 282;11|11 Het;C>T 195;14|10 Hom;C>T 688;0|21 N N - 6 3026250 3026250 A G snp ncRNA_exonic ENSG00000261015 rs927341 0.764577 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=1245),RIPK1(dist=50808) HTATSF1P2(dist=1245),RIPK1(dist=37872) ENSG00000261015 Na Na Na Na Na Na Het;A>G 1167;119|61 Het;A>G 1831;100|85 Hom;A>G 4072;0|143 N N - 6 3026296 3026296 T A snp ncRNA_exonic ENSG00000261015 rs927342 0.764377 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=1291),RIPK1(dist=50762) HTATSF1P2(dist=1291),RIPK1(dist=37826) ENSG00000261015 Na Na Na Na Na Na Het;T>A 1250;114|61 Het;T>A 1828;81|81 Hom;T>A 4014;0|143 N N - 6 3026480 3026480 G A snp ncRNA_exonic ENSG00000261015 rs927343 0.764377 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=1475),RIPK1(dist=50578) HTATSF1P2(dist=1475),RIPK1(dist=37642) ENSG00000261015 Na Na Na Na Na Na Het;G>A 1866;98|86 Het;G>A 1198;78|58 Hom;G>A 3221;1|116 N N - 6 3026808 3026808 C T snp ncRNA_exonic ENSG00000261015 rs6914191 0.621605 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=1803),RIPK1(dist=50250) HTATSF1P2(dist=1803),RIPK1(dist=37314) ENSG00000261015 Na Na Na Na Na Na Het;C>T 2004;118|81 Het;C>T 2058;87|86 Hom;C>T 3539;2|128 N N - 6 3027015 3027015 G T snp ncRNA_exonic ENSG00000261015 rs2326109 0.652756 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=2010),RIPK1(dist=50043) HTATSF1P2(dist=2010),RIPK1(dist=37107) ENSG00000261015 Na Na Na Na Na Na Het;G>T 2085;91|57 Het;G>T 1934;88|51 Hom;G>T 3418;0|73 N N - 6 3027016 3027016 C CAAACACAT indel ncRNA_exonic ENSG00000261015 rs3081532 0.654952 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=2011),RIPK1(dist=50042) HTATSF1P2(dist=2011),RIPK1(dist=37106) ENSG00000261015 Na Na Na Na Na Na Het;+AAACACAT 2076;92|52 Het;+AAACACAT 1925;88|47 Hom;+AAACACAT 3455;0|66 N N - 6 3027019 3027019 G C snp ncRNA_exonic ENSG00000261015 rs2326110 0.652756 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=2014),RIPK1(dist=50039) HTATSF1P2(dist=2014),RIPK1(dist=37103) ENSG00000261015 Na Na Na Na Na Na Het;G>C 1742;91|47 Het;G>C 1801;85|48 Hom;G>C 2944;0|63 N N - 6 3027020 3027020 T TG indel ncRNA_exonic ENSG00000261015 rs34697583 0.654952 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=2015),RIPK1(dist=50038) HTATSF1P2(dist=2015),RIPK1(dist=37102) ENSG00000261015 Na Na Na Na Na Na Het;+G 1696;90|48 Het;+G 1792;84|49 Hom;+G 2845;0|62 N N - 6 3027532 3027532 G A snp ncRNA_exonic ENSG00000261015 rs2326111 0.74401 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=2527),RIPK1(dist=49526) HTATSF1P2(dist=2527),RIPK1(dist=36590) ENSG00000261015 Na Na Na Na Na Na Het;G>A 1838;72|76 Het;G>A 1118;64|50 Hom;G>A 3214;0|114 N N - 6 3027658 3027658 T C snp ncRNA_exonic ENSG00000261015 rs911537 0.802915 0 0 1 0 0 intergenic intergenic ncRNA_exonic HTATSF1P2(dist=2653),RIPK1(dist=49400) HTATSF1P2(dist=2653),RIPK1(dist=36464) ENSG00000261015 Na Na Na Na Na Na Het;T>C 1111;39|33 Het;T>C 968;50|29 Hom;T>C 2385;0|57 N N - 6 3027674 3027674 A T snp downstream ENSG00000261015 rs911538 0.802516 0 0 1 0 0 intergenic intergenic downstream HTATSF1P2(dist=2669),RIPK1(dist=49384) HTATSF1P2(dist=2669),RIPK1(dist=36448) ENSG00000261015 Na Na Na Na Na Na Het;A>T 1057;33|29 Het;A>T 976;40|28 Hom;A>T 2186;0|50 N N - 6 3367318 3367318 T C snp intronic SLC22A23 Slc22a23 ENSG00000137266 solute carrier family 22 member 23 chr6:3269196-3457256 SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] Crohn Disease|Rectal Fistula; Colitis, Ulcerative|Crohn Disease|; Tobacco Use Disorder; Antipsychotic Agents; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Crohn Disease; Blood Pressure Determination GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A23 https://www.uniprot.org/uniprot/A1A5C7 https://www.ncbi.nlm.nih.gov/omim/?term=611697 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A23&submit=Quick%0D%7506ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A23 rs1556070 0.716853 0 0 1 0 0 intronic intronic intronic SLC22A23 SLC22A23 ENSG00000137266 Na Na Na Na Na Na Het;T>C 411;59|24 Het;T>C 550;43|30 Hom;T>C 1816;2|73 N N - 6 38137228 38137228 C T snp UTR3 *5533G>A BTBD9 Btbd9 ENSG00000183826 BTB domain containing 9 chr6:38136227-38607924 This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] Basophils; Restless Legs Syndrome; Tobacco Use Disorder; restless legs syndrome; Nocturnal Myoclonus Syndrome|Restless Legs Syndrome|Tourette Syndrome Mice homozygous for a gene trapped allele show hyperactivity, unidirectional circling, sleep disturbances, thermal sensory alterations, increased serum iron levels, altered serotonin metabolism, enhanced long-term potentiation and paired-pulse ratios, and enhanced cued and contextual fear memory. GO:0007616;long-term memory;IEA|GO:0008344;adult locomotory behavior;IBA|GO:0030162;regulation of proteolysis;IBA|GO:0042428;serotonin metabolic process;IEA|GO:0042748;circadian sleep/wake cycle, non-REM sleep;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0048512;circadian behavior;IBA|GO:0050804;modulation of synaptic transmission;IBA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0060586;multicellular organismal iron ion homeostasis;IEA|GO:1900242;regulation of synaptic vesicle endocytosis;IEA GO:0005737;cytoplasm;IBA|GO:0019005;SCF ubiquitin ligase complex;IBA GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/BTBD9 https://www.ncbi.nlm.nih.gov/omim/?term=611237 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD9&submit=Quick%0D%15088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD9 rs77385487 0.0561102 0 0 1 0 0 UTR3 UTR3 UTR3 BTBD9(NM_152733:c.*5533G>A,NM_052893:c.*5533G>A,NM_001172418:c.*5533G>A,NM_001099272:c.*5533G>A) BTBD9(uc010jwv.3:c.*5533G>A,uc003ony.4:c.*5533G>A,uc003ooa.4:c.*5533G>A,uc010jwx.3:c.*5533G>A) ENSG00000183826(ENST00000481247:c.*5533G>A,ENST00000314100:c.*5533G>A) Na Na Na Na Na Na Het;C>T 44;2|3 Ref Hom;C>T 59;0|3 N N - 6 3951007 3951007 T C snp intergenic FAM50B Fam50b ENSG00000145945 family with sequence similarity 50 member B chr6:3849620-3851551 This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015] GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0045171;intercellular bridge;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM50B https://www.uniprot.org/uniprot/Q9Y247 https://www.ncbi.nlm.nih.gov/omim/?term=614686 http://www.informatics.jax.org/searchtool/Search.do?query=FAM50B&submit=Quick%0D%8813ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM50B rs6932988 0.859225 0 0 1 0 0 intergenic intergenic intergenic FAM50B(dist=99456),PRPF4B(dist=70562) FAM50B(dist=99456),PRPF4B(dist=70562) ENSG00000217566(dist=8972),ENSG00000216657(dist=27289) Na Na Na Na Na Na Het;T>C 504;18|19 Het;T>C 227;16|9 Hom;T>C 1704;0|49 N N - 6 4033065 4033065 A G snp intronic PRPF4B Prpf4b ENSG00000112739 pre-mRNA processing factor 4B chr6:4021501-4065217 Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a knock-out allele show failure of blastocyst formation, increased cell death, absent inner cell mass proliferation, and complete embryonic lethality before implantation. GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0006468;protein phosphorylation;TAS|GO:0008380;RNA splicing;TAS|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0005694;chromosome;IEA|GO:0016607;nuclear speck;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRPF4B https://www.uniprot.org/uniprot/Q13523 https://www.ncbi.nlm.nih.gov/omim/?term=602338 http://www.informatics.jax.org/searchtool/Search.do?query=PRPF4B&submit=Quick%0D%4283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPF4B rs6924389 0.875799 0 0 1 0 0 intronic intronic intronic PRPF4B PRPF4B ENSG00000112739 Na Na Na Na Na Na Het;A>G 151;4|5 Het;A>G 159;5|7 Hom;A>G 409;0|14 N N - 6 4079875 4079875 T C snp unknown C6orf201 4933417A18Rik ENSG00000185689 chromosome 6 open reading frame 201 chr6:4079440-4131185 Male mice homozygous for a mutation are viable and show normal fertility. http://www.genecards.org/index.php?path=/Search/keyword/C6orf201 http://www.informatics.jax.org/searchtool/Search.do?query=C6orf201&submit=Quick%0D%15470ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C6orf201 rs665728 0.485823 0 0.3433 1 0 0 UTR5 UTR5 exonic C6orf201(NM_001085401:c.-8001T>C) C6orf201(uc003mwa.4:c.-8001T>C) ENSG00000185689 Na Na unknown Na Na UNKNOWN Het;T>C 1241;33|47 Het;T>C 1164;48|48 Hom;T>C 2499;0|87 N N - 6 4340261 4340261 A T snp intergenic LOC102724096 rs4959944 0.576877 0 0 1 0 0 intergenic intergenic intergenic LOC102724096(dist=149998),MIR7641-2(dist=87975) AK092451(dist=182642),KU-MEL-3(dist=270585) ENSG00000216307(dist=150221),ENSG00000231811(dist=5716) Na Na Na Na Na Na Het;A>T 64;4|4 Het;A>T 168;5|9 Hom;A>T 476;0|20 N N - 6 4715882 4715882 A G snp intronic CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs3812183 0.429513 0 0 1 0 0 intergenic intronic intronic NONE(dist=NONE),NONE(dist=NONE) CDYL ENSG00000153046 Na Na Na Na Na Na Het;A>G 221;10|8 Het;A>G 268;11|11 Hom;A>G 362;0|11 N N - 6 4715894 4715894 T G snp intronic CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs3812182 0.430112 0 0 1 0 0 intergenic intronic intronic NONE(dist=NONE),NONE(dist=NONE) CDYL ENSG00000153046 Na Na Na Na Na Na Het;T>G 250;11|9 Het;T>G 321;12|13 Hom;T>G 406;0|13 N N - 6 4735035 4735035 T C snp nonsynonymous SNV T143C V48A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs13196069 0.272963 0.2899 0.2727 0.09 1 11 intergenic exonic exonic NONE(dist=NONE),NONE(dist=NONE) CDYL ENSG00000153046 Na nonsynonymous SNV unknown Na CDYL:uc003mwi.3:exon3:c.T143C:p.V48A, UNKNOWN Het;T>C 1196;40|54 Het;T>C 736;27|35 Hom;T>C 1881;2|73 N N - 6 4735071 4735071 C G snp nonsynonymous SNV C179G A60G aliphatic,hydrophobic,neutral aliphatic,neutral CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs28360500 0.264776 0.2765 0.2696 0.09 1 11 intergenic exonic exonic NONE(dist=NONE),NONE(dist=NONE) CDYL ENSG00000153046 Na nonsynonymous SNV unknown Na CDYL:uc003mwi.3:exon3:c.C179G:p.A60G, UNKNOWN Het;C>G 928;36|43 Het;C>G 656;28|33 Hom;C>G 1459;2|59 N N - 6 4735146 4735146 C T snp intronic CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs35047361 0.272564 0 0 1 0 0 intergenic intronic intronic NONE(dist=NONE),NONE(dist=NONE) CDYL ENSG00000153046 Na Na Na Na Na Na Het;C>T 246;11|11 Het;C>T 179;17|8 Hom;C>T 691;2|24 N N - 6 4937728 4937728 C CA indel intronic CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs36001374 0 0 0 1 0 0 intronic intronic intronic CDYL CDYL ENSG00000153046 Na Na Na Na Na Na Het;+A 292;5|8 Het;+A 170;1|5 Hom;+A 358;0|10 N N - 6 4937742 4937742 C CT indel intronic CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs397820164 0 0 0 1 0 0 intronic intronic intronic CDYL CDYL ENSG00000153046 Na Na Na Na Na Na Het;+T 426;6|10 Het;+T 376;1|9 Hom;+T 568;0|14 N N - 6 4937747 4937747 A G snp intronic CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs56133250 0.635184 0 0 1 0 0 intronic intronic intronic CDYL CDYL ENSG00000153046 Na Na Na Na Na Na Het;A>G 491;9|14 Het;A>G 427;1|12 Hom;A>G 612;0|15 N N - 6 4954710 4954710 A G snp UTR3 *420A>G CDYL Cdyl ENSG00000153046 chromodomain Y like chr6:4706393-4955785 Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] thyroid cancer; Pulmonary Disease, Chronic Obstructive; Ocular Physiological Phenomena; Potassium Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;TAS|GO:0008152;metabolic process;IEA|GO:0016573;histone acetylation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0016607;nuclear speck;IDA GO:0003714;transcription corepressor activity;IMP|GO:0003824;catalytic activity;IEA|GO:0004402;histone acetyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDYL https://www.uniprot.org/uniprot/Q9Y232 https://www.ncbi.nlm.nih.gov/omim/?term=603778 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL&submit=Quick%0D%186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL rs1045074 0.595647 0 0 1 0 0 UTR3 UTR3 UTR3 CDYL(NM_004824:c.*420A>G,NM_001143970:c.*420A>G,NM_001143971:c.*420A>G) CDYL(uc003mwi.3:c.*420A>G,uc003mwj.3:c.*420A>G,uc003mwk.3:c.*420A>G,uc011dhx.2:c.*420A>G,uc011dhy.2:c.*420A>G) ENSG00000153046(ENST00000328908:c.*420A>G,ENST00000343762:c.*420A>G) Na Na Na Na Na Na Het;A>G 1809;107|74 Het;A>G 1687;76|75 Hom;A>G 4800;1|172 N N - 6 5000721 5000721 T C snp intronic RPP40 Rpp40 ENSG00000124787 ribonuclease P/MRP subunit p40 chr6:4994966-5004297 Myocardial Infarction Major pathway of rRNA processing in the nucleolus and cytosol GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0008033;tRNA processing;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;TAS|GO:0005730;nucleolus;IEA GO:0004526;ribonuclease P activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPP40 https://www.uniprot.org/uniprot/O75818 https://www.ncbi.nlm.nih.gov/omim/?term=606117 http://www.informatics.jax.org/searchtool/Search.do?query=RPP40&submit=Quick%0D%5717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPP40 rs2764108 0.923922 0 0 1 0 0 intronic intronic intronic RPP40 RPP40 ENSG00000124787 Na Na Na Na Na Na Het;T>C 289;6|9 Het;T>C 118;15|5 Hom;T>C 1154;0|24 N N - 6 5002615 5002615 A AC indel intronic RPP40 Rpp40 ENSG00000124787 ribonuclease P/MRP subunit p40 chr6:4994966-5004297 Myocardial Infarction Major pathway of rRNA processing in the nucleolus and cytosol GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0008033;tRNA processing;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;TAS|GO:0005730;nucleolus;IEA GO:0004526;ribonuclease P activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPP40 https://www.uniprot.org/uniprot/O75818 https://www.ncbi.nlm.nih.gov/omim/?term=606117 http://www.informatics.jax.org/searchtool/Search.do?query=RPP40&submit=Quick%0D%5717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPP40 rs397742701 0.924521 0 0 1 0 0 intronic intronic intronic RPP40 RPP40 ENSG00000124787 Na Na Na Na Na Na Het;+C 267;2|9 Het;+C 319;7|11 Hom;+C 522;0|15 N N - 6 5003952 5003952 T C snp intronic RPP40 Rpp40 ENSG00000124787 ribonuclease P/MRP subunit p40 chr6:4994966-5004297 Myocardial Infarction Major pathway of rRNA processing in the nucleolus and cytosol GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0008033;tRNA processing;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;TAS|GO:0005730;nucleolus;IEA GO:0004526;ribonuclease P activity;TAS|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPP40 https://www.uniprot.org/uniprot/O75818 https://www.ncbi.nlm.nih.gov/omim/?term=606117 http://www.informatics.jax.org/searchtool/Search.do?query=RPP40&submit=Quick%0D%5717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPP40 rs4960056 0.924121 0 0 1 0 0 intronic intronic intronic RPP40 RPP40 ENSG00000124787 Na Na Na Na Na Na Het;T>C 483;11|15 Het;T>C 217;9|8 Hom;T>C 459;0|14 N N - 6 5041451 5041457 CTTATAG C indel ncRNA_intronic AK094934 rs111488474 0.66853 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;-TTATAG 554;13|15 Het;-TTATAG 731;24|20 Hom;-TTATAG 1347;0|32 N N - 6 5041553 5041553 G C snp ncRNA_intronic AK094934 rs2793257 0.745607 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;G>C 516;11|22 Het;G>C 361;16|18 Hom;G>C 1492;0|51 N N - 6 5041713 5041713 C A snp ncRNA_intronic AK094934 rs1815675 0.743211 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;C>A 292;14|13 Het;C>A 326;24|19 Hom;C>A 1260;0|48 N N - 6 5041845 5041845 G A snp ncRNA_intronic AK094934 rs1771873 0.66853 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;G>A 76;4|4 Het;G>A 42;9|3 Hom;G>A 96;0|4 N N - 6 5042052 5042052 G T snp ncRNA_intronic AK094934 rs1815674 0.743211 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;G>T 101;13|6 Het;G>T 454;21|22 Hom;G>T 1086;0|39 N N - 6 5042363 5042363 C T snp ncRNA_intronic AK094934 rs1815673 0.74361 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;C>T 120;6|7 Het;C>T 467;13|20 Hom;C>T 303;0|14 N N - 6 5042388 5042388 C T snp ncRNA_intronic AK094934 rs1627212 0.657748 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;C>T 102;10|6 Het;C>T 490;13|22 Hom;C>T 282;0|12 N N - 6 5042668 5042668 C A snp ncRNA_intronic AK094934 rs754334 0.739816 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC100129461 AK094934,BC042032 ENSG00000271978,ENSG00000272142 Na Na Na Na Na Na Het;C>A 330;12|12 Het;C>A 441;18|18 Hom;C>A 599;0|17 N N - 6 5042962 5042962 A C snp ncRNA_exonic LOC100129461 rs2793258 0.743011 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100129461 BC042032 ENSG00000272142 Na Na Na Na Na Na Het;A>C 3010;134|122 Het;A>C 3477;148|139 Hom;A>C 8057;2|279 N N - 6 5043276 5043276 G C snp ncRNA_exonic LOC100129461 rs1771874 0.743411 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100129461 BC042032 ENSG00000272142 Na Na Na Na Na Na Het;G>C 3106;114|134 Het;G>C 2575;93|110 Hom;G>C 5557;0|191 N N - 6 5043544 5043544 G A snp ncRNA_exonic LOC100129461 rs2764153 0.743411 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100129461 BC042032 ENSG00000272142 Na Na Na Na Na Na Het;G>A 2636;115|112 Het;G>A 2192;115|101 Hom;G>A 6655;0|242 N N - 6 5043678 5043678 G A snp ncRNA_exonic LOC100129461 rs2764154 0.743011 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100129461 BC042032 ENSG00000272142 Na Na Na Na Na Na Het;G>A 3073;85|124 Het;G>A 2489;105|106 Hom;G>A 5755;1|204 N N - 6 51930886 51930886 T TA indel intronic PKHD1 Pkhd1 ENSG00000170927 PKHD1, fibrocystin/polyductin chr6:51480098-51952423 The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] waist circumference; polycystic kidney disease; Lipids; Tobacco Use Disorder; Polycystic Kidney Diseases; Cholesterol, LDL; prostate cancer; null; Electrocardiography; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis; Triglycerides Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts. GO:0001822;kidney development;IEA|GO:0006874;cellular calcium ion homeostasis;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010824;regulation of centrosome duplication;IMP|GO:0016337;single organismal cell-cell adhesion;ISS|GO:0032006;regulation of TOR signaling;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042592;homeostatic process;NAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0051271;negative regulation of cellular component movement;ISS|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0060271;cilium assembly;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0072686;mitotic spindle;IDA GO:0004872;receptor activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKHD1 https://hpo.jax.org/app/browse/search?q=PKHD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606702 http://www.informatics.jax.org/searchtool/Search.do?query=PKHD1&submit=Quick%0D%12811ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKHD1 rs397803732 0.446685 0.4484 0.4606 1 0 0 intronic intronic intronic PKHD1 PKHD1 ENSG00000170927 Na Na Na Na Na Na Het;+A 187;12|14 Het;+A 459;7|26 Hom;+A 662;4|33 N N - 6 52109408 52109409 GT G indel upstream IL17F Il17f ENSG00000112116 interleukin 17F chr6:52101479-52109335 The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008] Fatigue Syndrome, Chronic; Pancreatic Neoplasms; Colitis, Ulcerative; gastric mucosa; Cholesterol, LDL; gastric cancer; Arthritis, Rheumatoid|Rheumatoid Arthritis; Helicobacter Infections|Stomach Neoplasms; Dyspepsia|Helicobacter Infections|Inflammation; Glomerular Filtration Rate; asthma; Colitis, Ulcerative|Crohn Disease; Behcet Syndrome|; asthma chronic obstructive pulmonary disease/COPD; Dermatitis, Atopic|Psoriasis; Type 2 Diabetes| edema | rosiglitazone; longevity; Myocardial Infarction; inflammatory bowel disease Mice homozygous for one null allele exhibit increased susceptibility to oral bacterial infection while mice homozygous for another null allele exhibit decreased susceptibility to experimental models of colitis and CNS inflammation but have enhanced inflammatory responses to a chronic asthma model. Interleukin-4 and 13 signaling GO:0006954;inflammatory response;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042089;cytokine biosynthetic process;IDA|GO:0042109;lymphotoxin A biosynthetic process;IDA|GO:0045076;regulation of interleukin-2 biosynthetic process;IDA|GO:0045408;regulation of interleukin-6 biosynthetic process;IDA|GO:0045414;regulation of interleukin-8 biosynthetic process;IDA|GO:0045423;regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051216;cartilage development;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000778;positive regulation of interleukin-6 secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IDA|GO:0005126;cytokine receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0019955;cytokine binding;IDA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL17F https://www.uniprot.org/uniprot/Q96PD4 https://hpo.jax.org/app/browse/search?q=IL17F&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606496 http://www.informatics.jax.org/searchtool/Search.do?query=IL17F&submit=Quick%0D%4183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17F rs3215541 0.400559 0 0 1 0 0 upstream upstream upstream IL17F IL17F ENSG00000112116 Na Na Na Na Na Na Het;-T 77;2|6 Ref Hom;-T 40;1|4 N N - 6 52147363 52147363 A G snp intronic MCM3 Mcm3 ENSG00000112118 minichromosome maintenance complex component 3 chr6:52128807-52149679 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] breast cancer Mice homozygous for a null or hypomorph alleles exhibit prenatal lethality. Fetal mice homozygous for a hypomorphic allele display anemia and replicative stress during fetal erythropoiesis. Mice heterozygous for null or hypomorph alleles display increased incidence of lymphomas. Removal of licensing factors from origins GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0032508;DNA duplex unwinding;IEA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005658;alpha DNA polymerase:primase complex;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0016020;membrane;IDA|GO:0042555;MCM complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0003678;DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCM3 https://www.uniprot.org/uniprot/P25205 https://www.ncbi.nlm.nih.gov/omim/?term=602693 http://www.informatics.jax.org/searchtool/Search.do?query=MCM3&submit=Quick%0D%4184ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM3 rs12202495 0.259585 0 0 1 0 0 intronic intronic intronic MCM3 MCM3 ENSG00000112118 Na Na Na Na Na Na Het;A>G 122;6|5 Het;A>G 141;3|6 Hom;A>G 283;0|10 N N - 6 52658191 52658191 A G snp intronic GSTA1 Gsta2 ENSG00000243955 glutathione S-transferase alpha 1 chr6:52656462-52668708 This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] drug-related genes ; Carcinoma, Hepatocellular|Liver Neoplasms; Asthma; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Lung Neoplasms|Neoplasm of lung ; glutathione S-transferase; lead and mercury metabolism; isothiocyanates; methylmercury retention; colorectal cancer; Stomach Neoplasms; metabolism of toluene di-isocyanate; lung cancer; immunologic markers among vulcanization workers ; asthma; Chronic renal failure|Kidney Failure, Chronic; liver disease, alcoholic; urothelial cancer; warfarin sensitivity; 2-thiothiazolidine-4-carboxylic acid levels; Neoplasms; bladder cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; graft-versus-host disease; Body Weight; diabetes, type 2; lung function; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; ovarian cancer ; breast cancer; arsnic exposure; busulfan ; hepatic GSTA1/GSTA2 expression; breast cancer ; normal variation; cognitive trait; chemotherapy toxicity; Aging/ Telomere Length; Hepatic Veno-Occlusive Disease; prostate cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; DNA Damage; hypertension; cyclophosphamide phamacokinetics; null; Myelodysplastic Syndromes; Drug-Induced Liver Injury|Liver Diseases; vein occlusion, hepatic; Graft vs Host Disease|Hemoglobinopathies; Lung Neoplasms|Neoplasm of lung ; lung cancer ; Chromosome Aberrations|Chromosome abnormality|Chromosome Deletion|Translocation, Genetic; Amphetamine-Related Disorders|Recurrence Glutathione conjugation GO:0006749;glutathione metabolic process;IDA|GO:0008152;metabolic process;IC|GO:0030855;epithelial cell differentiation;IEP|GO:0043651;linoleic acid metabolic process;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004364;glutathione transferase activity;TAS|GO:0004602;glutathione peroxidase activity;IDA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GSTA1 https://www.ncbi.nlm.nih.gov/omim/?term=138359 http://www.informatics.jax.org/searchtool/Search.do?query=GSTA1&submit=Quick%0D%19817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTA1 rs4147614 0.20607 0 0 1 0 0 intronic intronic intronic GSTA1 GSTA1 ENSG00000243955 Na Na Na Na Na Na Het;A>G 47;4|4 Ref Hom;A>G 174;0|6 N N - 6 54604538 54604538 T A snp intergenic TINAG Tinag ENSG00000137251 tubulointerstitial nephritis antigen chr6:54172657-54254950 This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011] Forced Expiratory Volume; Response to radiation; Echocardiography; Tobacco Use Disorder GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA|GO:0007155;cell adhesion;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005615;extracellular space;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000166;nucleotide binding;TAS|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005044;scavenger receptor activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0030247;polysaccharide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TINAG https://www.uniprot.org/uniprot/Q9UJW2 https://www.ncbi.nlm.nih.gov/omim/?term=606749 http://www.informatics.jax.org/searchtool/Search.do?query=TINAG&submit=Quick%0D%7502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TINAG rs35505846 0 0 0 1 0 0 intergenic intergenic intergenic TINAG(dist=349588),FAM83B(dist=107031) TINAG(dist=349588),DD157417(dist=30864) ENSG00000220773(dist=114252),ENSG00000220635(dist=30843) Na Na Na Na Na Na Het;T>A 468;4|18 Het;T>A 649;6|24 Hom;T>A 1094;5|39 N N - 6 55489041 55489041 C T snp intergenic HMGCLL1 Hmgcll1 ENSG00000146151 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 chr6:55299167-55444012 Tobacco Use Disorder Synthesis of Ketone Bodies GO:0046951;ketone body biosynthetic process;TAS GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003824;catalytic activity;IEA|GO:0004419;hydroxymethylglutaryl-CoA lyase activity;TAS|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMGCLL1 https://www.uniprot.org/uniprot/Q8TB92 http://www.informatics.jax.org/searchtool/Search.do?query=HMGCLL1&submit=Quick%0D%8844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGCLL1 rs72973111 0.0225639 0 0 1 0 0 intergenic intergenic intergenic HMGCLL1(dist=45029),BMP5(dist=131197) HMGCLL1(dist=45029),BMP5(dist=131197) ENSG00000146151(dist=45029),ENSG00000220725(dist=56399) Na Na Na Na Na Na Het;C>T 87;3|5 Ref Hom;C>T 159;0|7 N N - 6 57393408 57393408 G T snp intronic PRIM2 Prim2 ENSG00000146143 primase (DNA) subunit 2 chr6:57179603-57513375 This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] Coronary Artery Disease; Tobacco Use Disorder Processive synthesis on the lagging strand GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;TAS|GO:0006270;DNA replication initiation;TAS|GO:0071897;DNA biosynthetic process;IEA GO:0005654;nucleoplasm;TAS|GO:0005658;alpha DNA polymerase:primase complex;IBA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IBA|GO:0003887;DNA-directed DNA polymerase activity;IBA|GO:0003896;DNA primase activity;TAS|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRIM2 https://www.uniprot.org/uniprot/P49643 https://www.ncbi.nlm.nih.gov/omim/?term=176636 http://www.informatics.jax.org/searchtool/Search.do?query=PRIM2&submit=Quick%0D%8842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIM2 rs9476077 0 0 0 1 0 0 intronic intronic intronic PRIM2 PRIM2 ENSG00000146143 Na Na Na Na Na Na Het;G>T 103;3|4 Het;G>T 66;2|3 Hom;G>T 85;0|3 N N - 6 57466891 57466891 A T snp intronic PRIM2 Prim2 ENSG00000146143 primase (DNA) subunit 2 chr6:57179603-57513375 This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] Coronary Artery Disease; Tobacco Use Disorder Processive synthesis on the lagging strand GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;TAS|GO:0006270;DNA replication initiation;TAS|GO:0071897;DNA biosynthetic process;IEA GO:0005654;nucleoplasm;TAS|GO:0005658;alpha DNA polymerase:primase complex;IBA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IBA|GO:0003887;DNA-directed DNA polymerase activity;IBA|GO:0003896;DNA primase activity;TAS|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRIM2 https://www.uniprot.org/uniprot/P49643 https://www.ncbi.nlm.nih.gov/omim/?term=176636 http://www.informatics.jax.org/searchtool/Search.do?query=PRIM2&submit=Quick%0D%8842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIM2 rs12210717 0 0 0 1 0 0 intronic intronic intronic PRIM2 PRIM2 ENSG00000146143 Na Na Na Na Na Na Het;A>T 41;5|2 Het;A>T 149;1|6 Hom;A>T 45;0|2 N N - 6 57466915 57466915 T A snp intronic PRIM2 Prim2 ENSG00000146143 primase (DNA) subunit 2 chr6:57179603-57513375 This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] Coronary Artery Disease; Tobacco Use Disorder Processive synthesis on the lagging strand GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000722;telomere maintenance via recombination;TAS|GO:0006260;DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;TAS|GO:0006270;DNA replication initiation;TAS|GO:0071897;DNA biosynthetic process;IEA GO:0005654;nucleoplasm;TAS|GO:0005658;alpha DNA polymerase:primase complex;IBA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IBA|GO:0003887;DNA-directed DNA polymerase activity;IBA|GO:0003896;DNA primase activity;TAS|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRIM2 https://www.uniprot.org/uniprot/P49643 https://www.ncbi.nlm.nih.gov/omim/?term=176636 http://www.informatics.jax.org/searchtool/Search.do?query=PRIM2&submit=Quick%0D%8842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRIM2 rs12205876 0 0 0 1 0 0 intronic intronic intronic PRIM2 PRIM2 ENSG00000146143 Na Na Na Na Na Na Het;T>A 93;9|4 Het;T>A 270;3|9 Hom;T>A 107;0|3 N N - 6 58776982 58776982 G T snp intergenic GUSBP4 rs9632510 0 0 0 1 0 0 intergenic intergenic intergenic GUSBP4(dist=489258),NONE(dist=NONE) Mir_598(dist=163917),NONE(dist=NONE) ENSG00000223633(dist=263122),NONE(dist=NONE) Na Na Na Na Na Na Het;G>T 305;4|12 Het;G>T 327;3|11 Hom;G>T 1235;3|42 N N - 6 6145726 6145726 A G snp UTR3 *126T>C F13A1 F13a1 ENSG00000124491 coagulation factor XIII A chain chr6:6144318-6321246 This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] Coronary Disease|Coronary heart disease|Myocardial Infarction; peripheral arterial disease; Infertility, Female; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; atrial fibrillation; Purpura, Thrombotic Thrombocytopenic; intracerebral hemorrhage; cardiovascular disease; nonfatal myocardial infarction.; cardiac death heart failure myocardial infarct; Varicose Ulcer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; intrauterine growth retardation; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; coronary heart disease; cardiovascular risk; brain hemorrhage; subconjunctival hemorrhage; birth weight; preterm delivery; preeclampsia; Type 2 Diabetes| edema | rosiglitazone; varicose ulcers; hemorrhage, intracerebral; Thrombosis; Tissue Plasminogen Activator; Myocardial ischemia; obesity; Cardiovascular Diseases|; pregnancy loss; Bronchopulmonary Dysplasia|; factor 13 activity; Alzheimer's disease; epithelial ovarian cancer ; hypertension; Coronary Disease|Myocardial Infarction; sepsis; Walking; vascular disease; pulmonary thromboembolism; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; aspirin resistance; thromboembolism, venous, pregnancy-related; Antiphospholipid Syndrome|Thrombosis; Brain Ischemia|Hemorrhage; Lymphocytes; heart disease, ischemic; peripheral arterial disease; atherosclerosis, coronary myocardial infarct; atherosclerosis; Crohn's disease ulcerative colitis; null; priapism; stroke, ischemic; Atherosclerosis|Thrombosis; Factor XIII activation; Factor VII; Triglycerides; brain hemorrhage; stroke, ischemic; inflammatory bowel disease; atherosclerosis, coronary; Apoplexy|Hypertension|Myocardial Infarction|Stroke; thrombosis, deep vein; fibrinogen myocardial infarct; fibrinogen Il-6 myocardial infarct; antiphospholipid syndrome; myocardial infarction; stroke; Chronic renal failure|Kidney Failure, Chronic; myocardial infarct; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Coronary Artery Disease|Coronary Thrombosis; ischemic stroke; thrombosis, venous; Lipoproteins, VLDL; pregnancy loss, recurrent; Inflammation; aneurysmal subarachnoid hemorrhage; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; coronary artery disease; atherosclerosis, coronary fibrinogen myocardial infarct; Brain Ischemia|Myocardial Infarction; myocardial infarction; cerebral infarct, atherosclerotic; Coronary Disease|Hypertension; Acute Coronary Syndrome|; Mouth Neoplasms; Hemorrhagic Disorders; stroke, hemorrhagic; patent ductus arteriosus; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Stroke; Cleft Lip|Cleft Palate; thrombosis; intracranial hemorrhage; white matter disease; Choroidal Neovascularization|Macular Degeneration; recurrent pregnancy loss; pregnancy loss, recurrent; coagulation disorder; Coronary Artery Disease; Lipids; fetal loss, late; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; patent foramen ovale; Apoplexy|Myocardial ischemia|Stroke; Tobacco Use Disorder; coronary fibrinolysis; Alzheimer Disease; Aneurysm, Ruptured|Subarachnoid Hemorrhage; stroke; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Iron; cancer; thromboembolism, venous; thromboembolism, venous Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility. Interleukin-4 and 13 signaling GO:0002576;platelet degranulation;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0018149;peptide cross-linking;IDA|GO:0072378;blood coagulation, fibrin clot formation;IDA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0072562;blood microparticle;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F13A1 https://www.uniprot.org/uniprot/P00488 https://hpo.jax.org/app/browse/search?q=F13A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=134570 http://www.informatics.jax.org/searchtool/Search.do?query=F13A1&submit=Quick%0D%5666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F13A1 rs1050782 0.523363 0 0 1 0 0 UTR3 UTR3 UTR3 F13A1(NM_000129:c.*126T>C) F13A1(uc003mwv.3:c.*126T>C) ENSG00000124491(ENST00000264870:c.*126T>C) Na Na Na Na Na Na Het;A>G 415;19|17 Het;A>G 582;27|24 Hom;A>G 1132;0|37 N N - 6 6195926 6195926 C T snp intronic F13A1 F13a1 ENSG00000124491 coagulation factor XIII A chain chr6:6144318-6321246 This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] Coronary Disease|Coronary heart disease|Myocardial Infarction; peripheral arterial disease; Infertility, Female; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; atrial fibrillation; Purpura, Thrombotic Thrombocytopenic; intracerebral hemorrhage; cardiovascular disease; nonfatal myocardial infarction.; cardiac death heart failure myocardial infarct; Varicose Ulcer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; intrauterine growth retardation; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; coronary heart disease; cardiovascular risk; brain hemorrhage; subconjunctival hemorrhage; birth weight; preterm delivery; preeclampsia; Type 2 Diabetes| edema | rosiglitazone; varicose ulcers; hemorrhage, intracerebral; Thrombosis; Tissue Plasminogen Activator; Myocardial ischemia; obesity; Cardiovascular Diseases|; pregnancy loss; Bronchopulmonary Dysplasia|; factor 13 activity; Alzheimer's disease; epithelial ovarian cancer ; hypertension; Coronary Disease|Myocardial Infarction; sepsis; Walking; vascular disease; pulmonary thromboembolism; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; aspirin resistance; thromboembolism, venous, pregnancy-related; Antiphospholipid Syndrome|Thrombosis; Brain Ischemia|Hemorrhage; Lymphocytes; heart disease, ischemic; peripheral arterial disease; atherosclerosis, coronary myocardial infarct; atherosclerosis; Crohn's disease ulcerative colitis; null; priapism; stroke, ischemic; Atherosclerosis|Thrombosis; Factor XIII activation; Factor VII; Triglycerides; brain hemorrhage; stroke, ischemic; inflammatory bowel disease; atherosclerosis, coronary; Apoplexy|Hypertension|Myocardial Infarction|Stroke; thrombosis, deep vein; fibrinogen myocardial infarct; fibrinogen Il-6 myocardial infarct; antiphospholipid syndrome; myocardial infarction; stroke; Chronic renal failure|Kidney Failure, Chronic; myocardial infarct; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Coronary Artery Disease|Coronary Thrombosis; ischemic stroke; thrombosis, venous; Lipoproteins, VLDL; pregnancy loss, recurrent; Inflammation; aneurysmal subarachnoid hemorrhage; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; coronary artery disease; atherosclerosis, coronary fibrinogen myocardial infarct; Brain Ischemia|Myocardial Infarction; myocardial infarction; cerebral infarct, atherosclerotic; Coronary Disease|Hypertension; Acute Coronary Syndrome|; Mouth Neoplasms; Hemorrhagic Disorders; stroke, hemorrhagic; patent ductus arteriosus; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Stroke; Cleft Lip|Cleft Palate; thrombosis; intracranial hemorrhage; white matter disease; Choroidal Neovascularization|Macular Degeneration; recurrent pregnancy loss; pregnancy loss, recurrent; coagulation disorder; Coronary Artery Disease; Lipids; fetal loss, late; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; patent foramen ovale; Apoplexy|Myocardial ischemia|Stroke; Tobacco Use Disorder; coronary fibrinolysis; Alzheimer Disease; Aneurysm, Ruptured|Subarachnoid Hemorrhage; stroke; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Iron; cancer; thromboembolism, venous; thromboembolism, venous Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility. Interleukin-4 and 13 signaling GO:0002576;platelet degranulation;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0018149;peptide cross-linking;IDA|GO:0072378;blood coagulation, fibrin clot formation;IDA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0072562;blood microparticle;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F13A1 https://www.uniprot.org/uniprot/P00488 https://hpo.jax.org/app/browse/search?q=F13A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=134570 http://www.informatics.jax.org/searchtool/Search.do?query=F13A1&submit=Quick%0D%5666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F13A1 rs2274391 0.229633 0 0 1 0 0 intronic intronic intronic F13A1 F13A1 ENSG00000124491 Na Na Na Na Na Na Het;C>T 132;9|6 Het;C>T 102;4|4 Hom;C>T 203;0|6 N N - 6 6196141 6196141 G A snp intronic F13A1 F13a1 ENSG00000124491 coagulation factor XIII A chain chr6:6144318-6321246 This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] Coronary Disease|Coronary heart disease|Myocardial Infarction; peripheral arterial disease; Infertility, Female; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; atrial fibrillation; Purpura, Thrombotic Thrombocytopenic; intracerebral hemorrhage; cardiovascular disease; nonfatal myocardial infarction.; cardiac death heart failure myocardial infarct; Varicose Ulcer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; intrauterine growth retardation; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; coronary heart disease; cardiovascular risk; brain hemorrhage; subconjunctival hemorrhage; birth weight; preterm delivery; preeclampsia; Type 2 Diabetes| edema | rosiglitazone; varicose ulcers; hemorrhage, intracerebral; Thrombosis; Tissue Plasminogen Activator; Myocardial ischemia; obesity; Cardiovascular Diseases|; pregnancy loss; Bronchopulmonary Dysplasia|; factor 13 activity; Alzheimer's disease; epithelial ovarian cancer ; hypertension; Coronary Disease|Myocardial Infarction; sepsis; Walking; vascular disease; pulmonary thromboembolism; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; aspirin resistance; thromboembolism, venous, pregnancy-related; Antiphospholipid Syndrome|Thrombosis; Brain Ischemia|Hemorrhage; Lymphocytes; heart disease, ischemic; peripheral arterial disease; atherosclerosis, coronary myocardial infarct; atherosclerosis; Crohn's disease ulcerative colitis; null; priapism; stroke, ischemic; Atherosclerosis|Thrombosis; Factor XIII activation; Factor VII; Triglycerides; brain hemorrhage; stroke, ischemic; inflammatory bowel disease; atherosclerosis, coronary; Apoplexy|Hypertension|Myocardial Infarction|Stroke; thrombosis, deep vein; fibrinogen myocardial infarct; fibrinogen Il-6 myocardial infarct; antiphospholipid syndrome; myocardial infarction; stroke; Chronic renal failure|Kidney Failure, Chronic; myocardial infarct; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Coronary Artery Disease|Coronary Thrombosis; ischemic stroke; thrombosis, venous; Lipoproteins, VLDL; pregnancy loss, recurrent; Inflammation; aneurysmal subarachnoid hemorrhage; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; coronary artery disease; atherosclerosis, coronary fibrinogen myocardial infarct; Brain Ischemia|Myocardial Infarction; myocardial infarction; cerebral infarct, atherosclerotic; Coronary Disease|Hypertension; Acute Coronary Syndrome|; Mouth Neoplasms; Hemorrhagic Disorders; stroke, hemorrhagic; patent ductus arteriosus; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Stroke; Cleft Lip|Cleft Palate; thrombosis; intracranial hemorrhage; white matter disease; Choroidal Neovascularization|Macular Degeneration; recurrent pregnancy loss; pregnancy loss, recurrent; coagulation disorder; Coronary Artery Disease; Lipids; fetal loss, late; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; patent foramen ovale; Apoplexy|Myocardial ischemia|Stroke; Tobacco Use Disorder; coronary fibrinolysis; Alzheimer Disease; Aneurysm, Ruptured|Subarachnoid Hemorrhage; stroke; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Iron; cancer; thromboembolism, venous; thromboembolism, venous Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility. Interleukin-4 and 13 signaling GO:0002576;platelet degranulation;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0018149;peptide cross-linking;IDA|GO:0072378;blood coagulation, fibrin clot formation;IDA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0072562;blood microparticle;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F13A1 https://www.uniprot.org/uniprot/P00488 https://hpo.jax.org/app/browse/search?q=F13A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=134570 http://www.informatics.jax.org/searchtool/Search.do?query=F13A1&submit=Quick%0D%5666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F13A1 rs5978 0.263978 0.2674 0.3207 1 0 0 intronic intronic intronic F13A1 F13A1 ENSG00000124491 Na Na Na Na Na Na Het;G>A 1479;33|39 Het;G>A 724;21|33 Hom;G>A 2429;0|65 N N - 6 63922500 63922506 ATTTTTT A indel UTR3 *712_*718delinsA FKBP1C ENSG00000198225 FK506 binding protein 1C chr6:63921351-63922929 GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0061077;chaperone-mediated protein folding;IBA GO:0005737;cytoplasm;IBA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IBA|GO:0005528;FK506 binding;IBA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FKBP1C http://www.informatics.jax.org/searchtool/Search.do?query=FKBP1C&submit=Quick%0D%16852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP1C rs201414537 0.978834 0 0 1 0 0 intergenic intergenic UTR3 KHDRBS2(dist=926400),LGSN(dist=63350) KHDRBS2(dist=926400),LGSN(dist=63350) ENSG00000198225(ENST00000370659:c.*712_*718delinsA) Na Na Na Na Na Na Het;-TTTTTT 164;3|5 Ref Hom;-TTTTTT 98;0|3 N N - 6 6439064 6439064 T A snp ncRNA_intronic LY86-AS1 rs2249767 0.78135 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LY86-AS1 LY86-AS1 ENSG00000216863 Na Na Na Na Na Na Het;T>A 372;4|19 Het;T>A 332;11|16 Hom;T>A 438;2|20 N N - 6 64574392 64574392 C CTT indel intronic EYS ENSG00000188107 eyes shut homolog (Drosophila) chr6:64429876-66417118 The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa Mice with disruptions in this gene are grossly normal and viable through adulthood. GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EYS https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612424 http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS rs10638627 0 0 0 1 0 0 intronic intronic intronic EYS EYS ENSG00000188107 Na Na Na Na Na Na Het;+TT 308;6|11 Het;+TT 126;4|5 Hom;+TT 90;0|4 N N - 6 67910778 67910778 G A snp intergenic SLC25A51P1 rs66762979 0.0656949 0 0 1 0 0 intergenic intergenic intergenic SLC25A51P1(dist=1411402),LOC102723883(dist=854465) SLC25A51P1(dist=1411402),LOC648232(dist=680103) ENSG00000266073(dist=51286),ENSG00000212229(dist=9523) Na Na Na Na Na Na Het;G>A 78;8|6 Ref Hom;G>A 258;0|11 N N - 6 7576527 7576527 G A snp synonymous SNV G2631A R877R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DSP Dsp ENSG00000096696 desmoplakin chr6:7541808-7586950 This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cleft Lip|Cleft Palate; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. Formation of the cornified envelope GO:0002934;desmosome organization;ISS|GO:0003223;ventricular compact myocardium morphogenesis;ISS|GO:0008544;epidermis development;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;IEA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0045109;intermediate filament organization;ISS|GO:0070268;cornification;TAS|GO:0071896;protein localization to adherens junction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0003723;RNA binding;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005198;structural molecule activity;IDA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0050839;cell adhesion molecule binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSP https://www.uniprot.org/uniprot/P15924 https://hpo.jax.org/app/browse/search?q=DSP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125647 http://www.informatics.jax.org/searchtool/Search.do?query=DSP&submit=Quick%0D%2285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSP rs1016835 0.735423 0.7481 0.7718 1 0 0 exonic exonic exonic DSP DSP ENSG00000096696 synonymous SNV synonymous SNV unknown DSP:NM_004415:exon19:c.G2631A:p.R877R,DSP:NM_001008844:exon19:c.G2631A:p.R877R, DSP:uc021yle.1:exon19:c.G2631A:p.R877R,DSP:uc003mxq.1:exon19:c.G2631A:p.R877R,DSP:uc003mxp.1:exon19:c.G2631A:p.R877R, UNKNOWN Het;G>A 552;17|23 Het;G>A 835;26|35 Hom;G>A 1614;2|57 N N - 6 7578819 7578819 T G snp intronic DSP Dsp ENSG00000096696 desmoplakin chr6:7541808-7586950 This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cleft Lip|Cleft Palate; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. Formation of the cornified envelope GO:0002934;desmosome organization;ISS|GO:0003223;ventricular compact myocardium morphogenesis;ISS|GO:0008544;epidermis development;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;IEA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0045109;intermediate filament organization;ISS|GO:0070268;cornification;TAS|GO:0071896;protein localization to adherens junction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0003723;RNA binding;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005198;structural molecule activity;IDA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0050839;cell adhesion molecule binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSP https://www.uniprot.org/uniprot/P15924 https://hpo.jax.org/app/browse/search?q=DSP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125647 http://www.informatics.jax.org/searchtool/Search.do?query=DSP&submit=Quick%0D%2285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSP rs2806229 0.740016 0.7534 0.7732 1 0 0 intronic intronic intronic DSP DSP ENSG00000096696 Na Na Na Na Na Na Het;T>G 1175;54|34 Het;T>G 1498;52|42 Hom;T>G 3635;0|84 N N - 6 7578823 7578823 G A snp intronic DSP Dsp ENSG00000096696 desmoplakin chr6:7541808-7586950 This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cleft Lip|Cleft Palate; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. Formation of the cornified envelope GO:0002934;desmosome organization;ISS|GO:0003223;ventricular compact myocardium morphogenesis;ISS|GO:0008544;epidermis development;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;IEA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0045109;intermediate filament organization;ISS|GO:0070268;cornification;TAS|GO:0071896;protein localization to adherens junction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0003723;RNA binding;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005198;structural molecule activity;IDA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0050839;cell adhesion molecule binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSP https://www.uniprot.org/uniprot/P15924 https://hpo.jax.org/app/browse/search?q=DSP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125647 http://www.informatics.jax.org/searchtool/Search.do?query=DSP&submit=Quick%0D%2285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSP rs2842691 0.764377 0.7783 0.7799 1 0 0 intronic intronic intronic DSP DSP ENSG00000096696 Na Na Na Na Na Na Het;G>A 1135;50|32 Het;G>A 1458;47|38 Hom;G>A 3551;0|77 N N - 6 75796364 75796366 GTA G indel intronic COL12A1 Col12a1 ENSG00000111799 collagen type XII alpha 1 chain chr6:75794042-75915767 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; null; Rupture|Tendon Injuries; Echocardiography Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. Collagen chain trimerization GO:0001501;skeletal system development;TAS|GO:0007155;cell adhesion;IEA|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005595;collagen type XII trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0030020;extracellular matrix structural constituent conferring tensile strength;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL12A1 https://www.uniprot.org/uniprot/Q99715 https://hpo.jax.org/app/browse/search?q=COL12A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120320 http://www.informatics.jax.org/searchtool/Search.do?query=COL12A1&submit=Quick%0D%4137ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL12A1 rs398001992 0 0 0 1 0 0 intronic intronic intronic COL12A1 COL12A1 ENSG00000111799 Na Na Na Na Na Na Het;-TA 82;3|4 Het;-TA 171;1|7 Hom;-TA 224;1|8 N N - 6 7585967 7585967 G C snp synonymous SNV G8472C G2824G aliphatic,neutral aliphatic,neutral DSP Dsp ENSG00000096696 desmoplakin chr6:7541808-7586950 This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cleft Lip|Cleft Palate; arrhythmogenic right ventricular cardiomyopathy/dysplasia; Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular; Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death; Arrhythmogenic Right Ventricular Dysplasia; cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. Formation of the cornified envelope GO:0002934;desmosome organization;ISS|GO:0003223;ventricular compact myocardium morphogenesis;ISS|GO:0008544;epidermis development;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IDA|GO:0031424;keratinization;TAS|GO:0034332;adherens junction organization;IEA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043588;skin development;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0045109;intermediate filament organization;ISS|GO:0070268;cornification;TAS|GO:0071896;protein localization to adherens junction;ISS|GO:0086073;bundle of His cell-Purkinje myocyte adhesion involved in cell communication;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098911;regulation of ventricular cardiac muscle cell action potential;IMP GO:0001533;cornified envelope;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005916;fascia adherens;IEA|GO:0014704;intercalated disc;IDA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030057;desmosome;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0003723;RNA binding;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005198;structural molecule activity;IDA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0030674;protein binding, bridging;IDA|GO:0050839;cell adhesion molecule binding;IEA|GO:0086083;cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication;IC|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSP https://www.uniprot.org/uniprot/P15924 https://hpo.jax.org/app/browse/search?q=DSP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125647 http://www.informatics.jax.org/searchtool/Search.do?query=DSP&submit=Quick%0D%2285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSP rs2744380 0.709465 0.6881 0.7117 1 0 0 exonic exonic exonic DSP DSP ENSG00000096696 synonymous SNV synonymous SNV unknown DSP:NM_004415:exon24:c.G8472C:p.G2824G,DSP:NM_001008844:exon24:c.G6675C:p.G2225G, DSP:uc021yle.1:exon24:c.G7143C:p.G2381G,DSP:uc003mxq.1:exon24:c.G6675C:p.G2225G,DSP:uc003mxp.1:exon24:c.G8472C:p.G2824G, UNKNOWN Het;G>C 1343;60|55 Het;G>C 1435;76|65 Hom;G>C 2931;0|99 N N - 6 75890933 75890933 T TA indel intronic COL12A1 Col12a1 ENSG00000111799 collagen type XII alpha 1 chain chr6:75794042-75915767 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; null; Rupture|Tendon Injuries; Echocardiography Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. Collagen chain trimerization GO:0001501;skeletal system development;TAS|GO:0007155;cell adhesion;IEA|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005595;collagen type XII trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0030020;extracellular matrix structural constituent conferring tensile strength;NAS http://www.genecards.org/index.php?path=/Search/keyword/COL12A1 https://www.uniprot.org/uniprot/Q99715 https://hpo.jax.org/app/browse/search?q=COL12A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120320 http://www.informatics.jax.org/searchtool/Search.do?query=COL12A1&submit=Quick%0D%4137ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL12A1 rs34433354 0.540735 0 0.5729 1 0 0 intronic intronic intronic COL12A1 COL12A1 ENSG00000111799 Na Na Na Na Na Na Het;+A 333;3|18 Het;+A 261;11|18 Hom;+A 461;4|23 N N - 6 76686861 76686861 T C snp intronic IMPG1 Impg1 ENSG00000112706 interphotoreceptor matrix proteoglycan 1 chr6:76630832-76782395 This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Hemoglobins; Tunica Media; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Iron; Alcoholism; Myocardial Infarction; Tobacco Use Disorder; Waist-Hip Ratio GO:0007601;visual perception;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS GO:0005201;extracellular matrix structural constituent;TAS http://www.genecards.org/index.php?path=/Search/keyword/IMPG1 https://www.uniprot.org/uniprot/Q17R60 https://hpo.jax.org/app/browse/search?q=IMPG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602870 http://www.informatics.jax.org/searchtool/Search.do?query=IMPG1&submit=Quick%0D%4281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPG1 rs6931853 0.51877 0 0 1 0 0 intronic intronic intronic IMPG1 IMPG1 ENSG00000112706 Na Na Na Na Na Na Het;T>C 73;5|3 Ref Hom;T>C 97;0|3 N N - 6 81054252 81054252 C T snp UTR3 *731C>T BCKDHB Bckdhb ENSG00000083123 branched chain keto acid dehydrogenase E1 subunit beta chr6:80816364-81055987 This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016] Calcium; Hemoglobins; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder; maple syrup urine disease; Alcoholism Branched-chain amino acid catabolism GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IMP|GO:0005759;mitochondrial matrix;TAS|GO:0005947;mitochondrial alpha-ketoglutarate dehydrogenase complex;IMP GO:0003824;catalytic activity;IEA|GO:0003826;alpha-ketoacid dehydrogenase activity;IEA|GO:0003863;3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016831;carboxy-lyase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/BCKDHB https://www.uniprot.org/uniprot/P21953 https://hpo.jax.org/app/browse/search?q=BCKDHB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=248611 http://www.informatics.jax.org/searchtool/Search.do?query=BCKDHB&submit=Quick%0D%1820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCKDHB rs4706117 0.39976 0 0 1 0 0 UTR3 UTR3 UTR3 BCKDHB(NM_183050:c.*731C>T) BCKDHB(uc003pje.2:c.*731C>T) ENSG00000083123(ENST00000320393:c.*731C>T,ENST00000545529:c.*1347C>T) Na Na Na Na Na Na Het;C>T 245;3|8 Het;C>T 140;1|5 Hom;C>T 125;0|4 N N - 6 81265495 81265495 C A snp downstream AL590824.1 rs9449067 0.705072 0 0 1 0 0 intergenic intergenic downstream BCKDHB(dist=209508),FAM46A(dist=1189952) BCKDHB(dist=209508),FAM46A(dist=1189952) ENSG00000216352 Na Na Na Na Na Na Het;C>A 80;2|4 Ref Hom;C>A 97;0|4 N N - 6 8302916 8302916 A T snp intergenic EEF1E1-BLOC1S5 ENSG00000265818 EEF1E1-BLOC1S5 readthrough (NMD candidate) chr6:8015959-8102763 This locus represents naturally occurring read-through transcription between the neighboring EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) and MUTED (muted homolog) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] GO:0008285;negative regulation of cell proliferation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0017101;aminoacyl-tRNA synthetase multienzyme complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/EEF1E1-BLOC1S5 http://www.informatics.jax.org/searchtool/Search.do?query=EEF1E1-BLOC1S5&submit=Quick%0D%20609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1E1-BLOC1S5 rs2792606 0.466853 0 0 1 0 0 intergenic intergenic intergenic EEF1E1-BLOC1S5(dist=200088),SLC35B3(dist=110384) EEF1E1-MUTED(dist=200088),SLC35B3(dist=110385) ENSG00000124802(dist=200105),ENSG00000232234(dist=26972) Na Na Na Na Na Na Het;A>T 212;30|13 Het;A>T 709;42|34 Hom;A>T 1741;2|68 N N - 6 8302945 8302945 G A snp intergenic EEF1E1-BLOC1S5 ENSG00000265818 EEF1E1-BLOC1S5 readthrough (NMD candidate) chr6:8015959-8102763 This locus represents naturally occurring read-through transcription between the neighboring EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) and MUTED (muted homolog) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] GO:0008285;negative regulation of cell proliferation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0017101;aminoacyl-tRNA synthetase multienzyme complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/EEF1E1-BLOC1S5 http://www.informatics.jax.org/searchtool/Search.do?query=EEF1E1-BLOC1S5&submit=Quick%0D%20609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EEF1E1-BLOC1S5 rs2792607 0.551318 0 0 1 0 0 intergenic intergenic intergenic EEF1E1-BLOC1S5(dist=200117),SLC35B3(dist=110355) EEF1E1-MUTED(dist=200117),SLC35B3(dist=110356) ENSG00000124802(dist=200134),ENSG00000232234(dist=26943) Na Na Na Na Na Na Het;G>A 135;25|9 Het;G>A 522;36|28 Hom;G>A 1410;1|53 N N - 6 85472129 85472129 C T snp intronic TBX18 Tbx18 ENSG00000112837 T-box 18 chr6:85397069-85474237 This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012] Coronary Artery Disease; Body Weights and Measures; Forced Vital Capacity; Hand Strength; Cholesterol, LDL; Occipital Lobe; Hip; Calcium; Cholesterol; Mental Competency; Triglycerides Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib and spinal nerve morphology. Mice homozygous for another targeted allele exhibit neonatal lethality, abnormal skeleton and abnormal coronary vessels. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0060829;negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation;ISS|GO:0072001;renal system development;IMP|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0001106;RNA polymerase II transcription corepressor activity;ISS|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0046982;protein heterodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/TBX18 https://www.uniprot.org/uniprot/O95935 https://hpo.jax.org/app/browse/search?q=TBX18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604613 http://www.informatics.jax.org/searchtool/Search.do?query=TBX18&submit=Quick%0D%4296ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX18 rs1883873 0.190895 0 0 1 0 0 intronic intronic intronic TBX18 TBX18 ENSG00000112837 Na Na Na Na Na Na Het;C>T 90;5|4 Ref Hom;C>T 85;0|3 N N - 6 87438537 87438537 A AAC indel downstream AL353133.1 rs111495563 0 0 0 1 0 0 intergenic intergenic downstream SNHG5(dist=1050086),HTR1E(dist=208487) SNHG5(dist=1050086),HTR1E(dist=208487) ENSG00000218561 Na Na Na Na Na Na Het;+AC 324;10|13 Het;+AC 791;4|25 Hom;+AC 623;1|20 N N - 6 90077647 90077647 A AT indel UTR3 *128T>AT RRAGD Rragd ENSG00000025039 Ras related GTP binding D chr6:90074355-90121989 RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004] Tobacco Use Disorder Regulation of PTEN gene transcription GO:0007050;cell cycle arrest;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0032008;positive regulation of TOR signaling;NAS|GO:0034613;cellular protein localization;ISS|GO:0071230;cellular response to amino acid stimulus;ISS|GO:0071233;cellular response to leucine;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:1990253;cellular response to leucine starvation;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IMP|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IMP|GO:0019003;GDP binding;IMP|GO:0046982;protein heterodimerization activity;IMP|GO:0051020;GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RRAGD https://www.uniprot.org/uniprot/Q9NQL2 https://www.ncbi.nlm.nih.gov/omim/?term=608268 http://www.informatics.jax.org/searchtool/Search.do?query=RRAGD&submit=Quick%0D%697ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRAGD rs200139969 0.267772 0 0 1 0 0 UTR3 UTR3 UTR3 RRAGD(NM_021244:c.*128T>AT) RRAGD(uc003pnd.4:c.*128T>AT,uc010kcc.3:c.*128T>AT) ENSG00000025039(ENST00000369415:c.*128T>AT,ENST00000359203:c.*128T>AT) Na Na Na Na Na Na Het;+T 312;3|16 Het;+T 112;5|7 Hom;+T 95;0|5 N N - 6 90596046 90596046 T G snp ncRNA_exonic AL353692.3 rs292245 0.103834 0 0 1 0 0 intergenic intergenic ncRNA_exonic CASP8AP2(dist=11891),GJA10(dist=8142) CASP8AP2(dist=11891),GJA10(dist=8142) ENSG00000219240 Na Na Na Na Na Na Het;T>G 49;2|3 Ref Hom;T>G 71;0|4 N N - 6 92750321 92750321 C CTA indel intergenic CASC6 rs10669512 0.541534 0 0 1 0 0 intergenic intergenic intergenic CASC6(dist=350175),EPHA7(dist=1199419) BC037927(dist=350175),EPHA7(dist=1199419) ENSG00000220553(dist=25869),ENSG00000200492(dist=78919) Na Na Na Na Na Na Het;+TA 272;9|8 Het;+TA 463;12|13 Hom;+TA 892;0|21 N N - 6 961273 961274 AT A indel ncRNA_exonic LOC285768 rs113469067 0.282348 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic LOC285768 LOC285768 ENSG00000229796 Na Na Na Na Na Na Het;-T 1229;62|84 Het;-T 1004;56|67 Hom;-T 2376;8|120 N N - 6 96354274 96354274 T C snp intergenic MANEA Manea ENSG00000172469 mannosidase endo-alpha chr6:96025419-96057333 N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008] Tobacco Use Disorder; Erythrocyte Indices; Cocaine-Related Disorders|Opioid-Related Disorders|Substance-Related Disorders; Electrocardiography; Cocaine-Related Disorders; Cholesterol, LDL N-glycan trimming and elongation in the cis-Golgi GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004559;alpha-mannosidase activity;IEA|GO:0004569;glycoprotein endo-alpha-1,2-mannosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/MANEA https://www.ncbi.nlm.nih.gov/omim/?term=612327 http://www.informatics.jax.org/searchtool/Search.do?query=MANEA&submit=Quick%0D%13171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MANEA rs11758855 0.413738 0 0 1 0 0 intergenic intergenic intergenic MANEA(dist=296946),FUT9(dist=109571) MANEA(dist=296946),FUT9(dist=109571) ENSG00000219549(dist=273469),ENSG00000219941(dist=84709) Na Na Na Na Na Na Het;T>C 919;34|42 Het;T>C 453;25|24 Hom;T>C 2436;0|94 N N - 6 96354362 96354362 C CA indel intergenic MANEA Manea ENSG00000172469 mannosidase endo-alpha chr6:96025419-96057333 N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008] Tobacco Use Disorder; Erythrocyte Indices; Cocaine-Related Disorders|Opioid-Related Disorders|Substance-Related Disorders; Electrocardiography; Cocaine-Related Disorders; Cholesterol, LDL N-glycan trimming and elongation in the cis-Golgi GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004559;alpha-mannosidase activity;IEA|GO:0004569;glycoprotein endo-alpha-1,2-mannosidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/MANEA https://www.ncbi.nlm.nih.gov/omim/?term=612327 http://www.informatics.jax.org/searchtool/Search.do?query=MANEA&submit=Quick%0D%13171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MANEA rs397761265 0.413738 0 0 1 0 0 intergenic intergenic intergenic MANEA(dist=297034),FUT9(dist=109483) MANEA(dist=297034),FUT9(dist=109483) ENSG00000219549(dist=273557),ENSG00000219941(dist=84621) Na Na Na Na Na Na Het;+A 456;25|23 Het;+A 209;21|12 Hom;+A 1349;0|49 N N - 6 9882126 9882126 G A snp intronic OFCC1 Ofcc1 ENSG00000181355 orofacial cleft 1 candidate 1 chr6:9596343-10211841 schizophrenia; Tunica Media; Adiponectin; Calcium Mice homozygous for a knock-out allele exhibit normal skull morphology and normal behavior with in increase in gamma-glutamyl transpeptidase. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/OFCC1 https://www.ncbi.nlm.nih.gov/omim/?term=614287 http://www.informatics.jax.org/searchtool/Search.do?query=OFCC1&submit=Quick%0D%14608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OFCC1 rs2327216 0.23103 0 0 1 0 0 intergenic intronic intronic LOC100506207(dist=1096448),TFAP2A(dist=514790) MRDS1,OFCC1 ENSG00000181355 Na Na Na Na Na Na Het;G>A 87;15|6 Het;G>A 116;17|9 Hom;G>A 456;0|19 N N - 6 99622959 99622959 A G snp ncRNA_exonic BDH2P1 rs56744910 0.142572 0 0 1 0 0 intergenic intergenic ncRNA_exonic FBXL4(dist=227077),FAXC(dist=97834) FBXL4(dist=227110),FAXC(dist=97834) ENSG00000232699 Na Na Na Na Na Na Het;A>G 589;19|24 Het;A>G 824;26|28 Hom;A>G 1899;0|66 N N - 6 99781118 99781118 G A snp intronic FAXC Faxc ENSG00000146267 failed axon connections homolog chr6:99719045-99797938 Heart Rate GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAXC https://www.uniprot.org/uniprot/Q5TGI0 http://www.informatics.jax.org/searchtool/Search.do?query=FAXC&submit=Quick%0D%8860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAXC rs117574462 0.00758786 0 0 1 0 0 intronic intronic intronic FAXC FAXC ENSG00000146267 Na Na Na Na Na Na Het;G>A 132;2|5 Het;G>A 39;2|2 Hom;G>A 126;0|4 N N - 7 100410657 100410657 A G snp intronic EPHB4 Ephb4 ENSG00000196411 EPH receptor B4 chr7:100400187-100425121 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] null Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. EPH-ephrin mediated repulsion of cells GO:0001525;angiogenesis;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IDA|GO:0003007;heart morphogenesis;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005003;ephrin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPHB4 https://hpo.jax.org/app/browse/search?q=EPHB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600011 http://www.informatics.jax.org/searchtool/Search.do?query=EPHB4&submit=Quick%0D%16352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB4 rs314358 0.575479 0.5660 0.6083 1 0 0 intronic intronic intronic EPHB4 EPHB4 ENSG00000196411 Na Na Na Na Na Na Het;A>G 3287;120|153 Het;A>G 2578;125|115 Hom;A>G 7442;2|278 N N - 7 100411278 100411278 T C snp synonymous SNV A1752G G584G aliphatic,neutral aliphatic,neutral EPHB4 Ephb4 ENSG00000196411 EPH receptor B4 chr7:100400187-100425121 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] null Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. EPH-ephrin mediated repulsion of cells GO:0001525;angiogenesis;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IDA|GO:0003007;heart morphogenesis;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005003;ephrin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPHB4 https://hpo.jax.org/app/browse/search?q=EPHB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600011 http://www.informatics.jax.org/searchtool/Search.do?query=EPHB4&submit=Quick%0D%16352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB4 rs314359 0.575679 0.5660 0.6080 1 0 0 exonic exonic exonic EPHB4 EPHB4 ENSG00000196411 synonymous SNV synonymous SNV unknown EPHB4:NM_004444:exon10:c.A1752G:p.G584G, EPHB4:uc010lhj.1:exon10:c.A1752G:p.G584G,EPHB4:uc003uwm.1:exon9:c.A1473G:p.G491G,EPHB4:uc003uwn.1:exon10:c.A1752G:p.G584G, UNKNOWN Het;T>C 679;37|33 Het;T>C 353;56|22 Hom;T>C 2731;0|96 N N - 7 100416250 100416250 A G snp nonsynonymous SNV T1232C L411P aliphatic,hydrophobic,neutral hydrophobic,neutral EPHB4 Ephb4 ENSG00000196411 EPH receptor B4 chr7:100400187-100425121 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] null Homozygotes for a targeted null mutation exhibit arrested angiogenesis and heart development and midgestational lethality. EPH-ephrin mediated repulsion of cells GO:0001525;angiogenesis;IEA|GO:0002042;cell migration involved in sprouting angiogenesis;IDA|GO:0003007;heart morphogenesis;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007155;cell adhesion;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IDA|GO:0005003;ephrin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPHB4 https://hpo.jax.org/app/browse/search?q=EPHB4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600011 http://www.informatics.jax.org/searchtool/Search.do?query=EPHB4&submit=Quick%0D%16352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPHB4 rs144173 0.563698 0.5553 0.6059 1 0 0 exonic exonic exonic EPHB4 EPHB4 ENSG00000196411 synonymous SNV nonsynonymous SNV unknown EPHB4:NM_004444:exon7:c.T1314C:p.S438S, EPHB4:uc011kkh.1:exon7:c.T1232C:p.L411P, UNKNOWN Het;A>G 1558;137|82 Het;A>G 2604;90|125 Hom;A>G 5171;2|193 N N - 7 100452524 100452524 A G snp intronic SLC12A9 Slc12a9 ENSG00000146828 solute carrier family 12 member 9 chr7:100424442-100464631 Heart Rate; Coronary Disease GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;TAS|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A9 https://www.uniprot.org/uniprot/Q9BXP2 https://www.ncbi.nlm.nih.gov/omim/?term=616861 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A9&submit=Quick%0D%8917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A9 rs314369 0.574081 0 0 1 0 0 intronic intronic intronic SLC12A9 SLC12A9 ENSG00000146828 Na Na Na Na Na Na Het;A>G 432;16|15 Het;A>G 446;11|15 Hom;A>G 814;0|22 N N - 7 100456611 100456611 G C snp UTR5 -2467G>C SLC12A9 Slc12a9 ENSG00000146828 solute carrier family 12 member 9 chr7:100424442-100464631 Heart Rate; Coronary Disease GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;TAS|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A9 https://www.uniprot.org/uniprot/Q9BXP2 https://www.ncbi.nlm.nih.gov/omim/?term=616861 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A9&submit=Quick%0D%8917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A9 rs314374 0.463059 0.3757 0.5011 1 0 0 intronic UTR5 intronic SLC12A9 SLC12A9(uc003uwv.3:c.-2467G>C) ENSG00000146828 Na Na Na Na Na Na Het;G>C 1542;82|69 Het;G>C 1274;66|54 Hom;G>C 2412;2|87 N N - 7 100457356 100457356 A G snp UTR5 -1722A>G SLC12A9 Slc12a9 ENSG00000146828 solute carrier family 12 member 9 chr7:100424442-100464631 Heart Rate; Coronary Disease GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;TAS|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A9 https://www.uniprot.org/uniprot/Q9BXP2 https://www.ncbi.nlm.nih.gov/omim/?term=616861 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A9&submit=Quick%0D%8917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A9 rs314376 0.463059 0 0 1 0 0 intronic UTR5 intronic SLC12A9 SLC12A9(uc003uwv.3:c.-1722A>G) ENSG00000146828 Na Na Na Na Na Na Het;A>G 159;5|6 Ref Hom;A>G 118;0|4 N N - 7 100458795 100458795 T C snp synonymous SNV T1254C A418A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC12A9 Slc12a9 ENSG00000146828 solute carrier family 12 member 9 chr7:100424442-100464631 Heart Rate; Coronary Disease GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015377;cation:chloride symporter activity;TAS|GO:0015379;potassium:chloride symporter activity;IBA|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A9 https://www.uniprot.org/uniprot/Q9BXP2 https://www.ncbi.nlm.nih.gov/omim/?term=616861 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A9&submit=Quick%0D%8917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A9 rs314378 0.578474 0.4977 0.5689 1 0 0 exonic exonic exonic SLC12A9 SLC12A9 ENSG00000146828 synonymous SNV synonymous SNV unknown SLC12A9:NM_001267812:exon10:c.T1254C:p.A418A,SLC12A9:NM_020246:exon10:c.T1254C:p.A418A,SLC12A9:NM_001267814:exon8:c.T987C:p.A329A, SLC12A9:uc003uwp.4:exon10:c.T1254C:p.A418A,SLC12A9:uc003uwt.3:exon5:c.T462C:p.A154A,SLC12A9:uc003uwr.3:exon6:c.T462C:p.A154A,SLC12A9:uc031syn.1:exon10:c.T1254C:p.A418A,SLC12A9:uc003uwq.4:exon8:c.T987C:p.A329A, UNKNOWN Het;T>C 1772;94|85 Het;T>C 1265;90|64 Hom;T>C 4285;0|159 N N - 7 100468284 100468284 A G snp synonymous SNV A918G V306V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRIP6 Trip6 ENSG00000087077 thyroid hormone receptor interactor 6 chr7:100464760-100471076 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0048041;focal adhesion assembly;NAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0030054;cell junction;IEA|GO:0045323;interleukin-1 receptor complex;IDA GO:0003723;RNA binding;IDA|GO:0005149;interleukin-1 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046966;thyroid hormone receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/TRIP6 https://www.uniprot.org/uniprot/Q15654 https://www.ncbi.nlm.nih.gov/omim/?term=602933 http://www.informatics.jax.org/searchtool/Search.do?query=TRIP6&submit=Quick%0D%1947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP6 rs1054391 0.560104 0.4802 0.5621 1 0 0 exonic exonic exonic TRIP6 TRIP6 ENSG00000087077 synonymous SNV synonymous SNV unknown TRIP6:NM_003302:exon6:c.A918G:p.V306V, TRIP6:uc022aiv.1:exon6:c.A855G:p.V285V,TRIP6:uc022ait.1:exon6:c.A120G:p.V40V,TRIP6:uc010lhk.2:exon6:c.A120G:p.V40V,TRIP6:uc022aiu.1:exon5:c.A120G:p.V40V,TRIP6:uc003uww.3:exon6:c.A918G:p.V306V, UNKNOWN Het;A>G 2236;123|102 Het;A>G 2225;116|105 Hom;A>G 5203;0|196 N N - 7 100468398 100468398 T C snp intronic TRIP6 Trip6 ENSG00000087077 thyroid hormone receptor interactor 6 chr7:100464760-100471076 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007155;cell adhesion;IEA|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0030335;positive regulation of cell migration;IMP|GO:0048041;focal adhesion assembly;NAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0030054;cell junction;IEA|GO:0045323;interleukin-1 receptor complex;IDA GO:0003723;RNA binding;IDA|GO:0005149;interleukin-1 receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046966;thyroid hormone receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/TRIP6 https://www.uniprot.org/uniprot/Q15654 https://www.ncbi.nlm.nih.gov/omim/?term=602933 http://www.informatics.jax.org/searchtool/Search.do?query=TRIP6&submit=Quick%0D%1947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP6 rs7783543 0.579673 0.4964 0.5739 1 0 0 intronic intronic intronic TRIP6 TRIP6 ENSG00000087077 Na Na Na Na Na Na Het;T>C 1137;56|49 Het;T>C 1196;40|49 Hom;T>C 1591;0|60 N N - 7 100481658 100481659 GT G indel intronic SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs11310439 0.46226 0.3743 0.5036 1 0 0 intronic intronic intronic SRRT SRRT ENSG00000087087 Na Na Na Na Na Na Het;-T 487;12|19 Het;-T 338;12|14 Hom;-T 676;0|22 N N - 7 100482026 100482026 T C snp synonymous SNV T795C L265L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs15624 0.576877 0.4961 0.5690 1 0 0 exonic exonic exonic SRRT SRRT ENSG00000087087 synonymous SNV synonymous SNV unknown SRRT:NM_001128852:exon7:c.T795C:p.L265L,SRRT:NM_015908:exon7:c.T795C:p.L265L,SRRT:NM_001128853:exon7:c.T795C:p.L265L,SRRT:NM_001128854:exon7:c.T795C:p.L265L, SRRT:uc003uxa.2:exon7:c.T795C:p.L265L,SRRT:uc003uwy.2:exon7:c.T795C:p.L265L,SRRT:uc010lhl.1:exon7:c.T795C:p.L265L,SRRT:uc003uwz.2:exon7:c.T795C:p.L265L, UNKNOWN Het;T>C 340;36|18 Het;T>C 458;32|23 Hom;T>C 1335;0|50 N N - 7 100482526 100482526 C G snp intronic SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs6942607 0.463059 0.3760 0.5003 1 0 0 intronic intronic intronic SRRT SRRT ENSG00000087087 Na Na Na Na Na Na Het;C>G 3421;169|154 Het;C>G 2947;155|142 Hom;C>G 8728;0|319 N N - 7 100483078 100483078 G GC indel intronic SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs34822117 0 0 0 1 0 0 intronic intronic intronic SRRT SRRT ENSG00000087087 Na Na Na Na Na Na Het;+C 618;21|25 Het;+C 225;13|11 Hom;+C 756;0|25 N N - 7 100483731 100483731 A G snp intronic SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs12672665 0.576877 0 0 1 0 0 intronic intronic intronic SRRT SRRT ENSG00000087087 Na Na Na Na Na Na Het;A>G 373;8|11 Het;A>G 38;4|2 Hom;A>G 222;0|6 N N - 7 100484917 100484917 C T snp intronic SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs6954151 0.462859 0.3744 0.5007 1 0 0 intronic intronic intronic SRRT SRRT ENSG00000087087 Na Na Na Na Na Na Het;C>T 594;55|28 Het;C>T 1063;33|41 Hom;C>T 1831;0|65 N N - 7 100486088 100486088 C T snp intronic SRRT Srrt ENSG00000087087 serrate, RNA effector molecule chr7:100472733-100486285 Heart Rate Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;ISS|GO:0031047;gene silencing by RNA;IEA|GO:0031053;primary miRNA processing;IMP|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0046685;response to arsenic-containing substance;NAS|GO:0050769;positive regulation of neurogenesis;IEA|GO:0097150;neuronal stem cell population maintenance;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043234;protein complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;ISS|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRRT https://www.uniprot.org/uniprot/Q9BXP5 https://www.ncbi.nlm.nih.gov/omim/?term=614469 http://www.informatics.jax.org/searchtool/Search.do?query=SRRT&submit=Quick%0D%1950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRRT rs3087504 0.46266 0.3764 0.5007 1 0 0 intronic intronic intronic SRRT SRRT ENSG00000087087 Na Na Na Na Na Na Het;C>T 1185;85|59 Het;C>T 1297;36|57 Hom;C>T 2963;0|112 N N - 7 100486656 100486656 T G snp synonymous SNV A237C V79V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral UFSP1 Ufsp1 ENSG00000176125 UFM1 specific peptidase 1 (inactive) chr7:100486346-100487339 This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009] Heart Rate GO:0006508;proteolysis;IEA|GO:0008150;biological_process;ND GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0008234;cysteine-type peptidase activity;IEA|GO:0071567;UFM1 hydrolase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/UFSP1 https://www.ncbi.nlm.nih.gov/omim/?term=611481 http://www.informatics.jax.org/searchtool/Search.do?query=UFSP1&submit=Quick%0D%13804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UFSP1 rs13241786 0.651757 0.5673 0.6065 1 0 0 exonic exonic exonic UFSP1 UFSP1 ENSG00000176125 synonymous SNV synonymous SNV unknown UFSP1:NM_001015072:exon1:c.A237C:p.V79V, UFSP1:uc003uxc.4:exon1:c.A237C:p.V79V, UNKNOWN Het;T>G 1640;54|67 Het;T>G 949;37|41 Hom;T>G 2185;0|80 N N - 7 100550786 100550786 T C snp nonsynonymous SNV T1367C L456S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs79714278 0 0 0.4864 0.00 0 3 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 nonsynonymous SNV Na Na MUC3A:NM_005960:exon2:c.T1367C:p.L456S, Na Na Het;T>C 593;3|12 Het;T>C 749;5|19 Hom;T>C 737;0|15 N N - 7 100550799 100550799 G C snp synonymous SNV G1380C T460T polar,hydrophilic,neutral polar,hydrophilic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs28705341 0.513379 0 0.4454 1 0 0 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 synonymous SNV Na Na MUC3A:NM_005960:exon2:c.G1380C:p.T460T, Na Na Het;G>C 464;3|12 Het;G>C 664;2|18 Hom;G>C 467;0|11 N N - 7 100550808 100550808 C A snp synonymous SNV C1389A T463T polar,hydrophilic,neutral polar,hydrophilic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs368043565 0.0678914 0 0.2782 1 0 0 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 synonymous SNV Na Na MUC3A:NM_005960:exon2:c.C1389A:p.T463T, Na Na Het;C>A 422;4|11 Het;C>A 326;6|9 Hom;C>A 467;0|11 N N - 7 100550811 100550811 A C snp synonymous SNV A1392C S464S polar,hydrophilic,neutral polar,hydrophilic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs371970072 0.0678914 0 0.2903 1 0 0 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 synonymous SNV Na Na MUC3A:NM_005960:exon2:c.A1392C:p.S464S, Na Na Het;A>C 422;4|11 Het;A>C 326;6|8 Hom;A>C 467;0|9 N N - 7 100550816 100550816 G A snp nonsynonymous SNV G1397A S466N polar,hydrophilic,neutral polar,hydrophilic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs62483690 0 0 0.2413 0.00 0 3 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 nonsynonymous SNV Na Na MUC3A:NM_005960:exon2:c.G1397A:p.S466N, Na Na Het;G>A 422;4|11 Het;G>A 242;6|7 Hom;G>A 287;0|7 N N - 7 100550827 100550827 T C snp nonsynonymous SNV T1408C F470L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs760531164 0 0 0.1594 0.00 0 3 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 nonsynonymous SNV Na Na MUC3A:NM_005960:exon2:c.T1408C:p.F470L, Na Na Het;T>C 424;5|11 Het;T>C 200;6|5 Hom;T>C 287;0|6 N N - 7 100550838 100550838 G A snp synonymous SNV G1419A S473S polar,hydrophilic,neutral polar,hydrophilic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs372391962 0.228634 0 0.1567 1 0 0 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 synonymous SNV Na Na MUC3A:NM_005960:exon2:c.G1419A:p.S473S, Na Na Het;G>A 385;3|10 Het;G>A 161;6|5 Hom;G>A 160;0|5 N N - 7 100550851 100550851 G A snp nonsynonymous SNV G1432A E478K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs113108647 0 0 0.0983 0.00 0 3 exonic ncRNA_exonic upstream;downstream MUC3A MUC3B ENSG00000169894;ENSG00000228273 nonsynonymous SNV Na Na MUC3A:NM_005960:exon2:c.G1432A:p.E478K, Na Na Het;G>A 176;2|5 Het;G>A 74;8|3 Hom;G>A 107;0|3 N N - 7 100607851 100607851 C G snp synonymous SNV C3828G L1276L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MUC3A Muc3a ENSG00000169894 mucin 3A, cell surface associated chr7:100547257-100550424 The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] ulcerative colitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005201;extracellular matrix structural constituent;NAS|GO:0030197;extracellular matrix constituent, lubricant activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/MUC3A https://www.ncbi.nlm.nih.gov/omim/?term=158371 http://www.informatics.jax.org/searchtool/Search.do?query=MUC3A&submit=Quick%0D%12586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC3A rs6960854 0 0 0.5069 1 0 0 exonic exonic exonic MUC3A MUC3A ENSG00000169894 synonymous SNV synonymous SNV unknown MUC3A:NM_005960:exon6:c.C3828G:p.L1276L, MUC3A:uc003uxl.1:exon5:c.C1698G:p.L566L, UNKNOWN Het;C>G 3192;52|125 Het;C>G 2538;57|103 Hom;C>G 4779;0|167 N N - 7 100607973 100607973 A G snp ncRNA_exonic AK057259 rs6960893 0 0 0 1 0 0 intronic ncRNA_exonic ncRNA_exonic MUC3A AK057259,AK096803 ENSG00000225946 Na Na Na Na Na Na Het;A>G 906;10|26 Het;A>G 730;10|26 Hom;A>G 828;0|26 N N - 7 100609987 100609987 T C snp ncRNA_intronic AK096803 rs10274460 0 0 0 1 0 0 intronic ncRNA_intronic ncRNA_intronic MUC3A AK096803,MUC3B ENSG00000225946 Na Na Na Na Na Na Het;T>C 3547;21|99 Het;T>C 2733;17|78 Hom;T>C 2740;0|77 N N - 7 100612648 100612648 C G snp upstream MUC12 ENSG00000205277 mucin 12, cell surface associated chr7:100612904-100662230 Termination of O-glycan biosynthesis GO:0001558;regulation of cell growth;NAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/MUC12 https://www.ncbi.nlm.nih.gov/omim/?term=604609 http://www.informatics.jax.org/searchtool/Search.do?query=MUC12&submit=Quick%0D%17489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC12 rs78096872 0 0 0 1 0 0 upstream upstream upstream MUC12 MUC12 ENSG00000205277 Na Na Na Na Na Na Het;C>G 47;3|2 Het;C>G 221;0|6 Hom;C>G 107;0|3 N N - 7 100614556 100614556 A C snp intronic MUC12 ENSG00000205277 mucin 12, cell surface associated chr7:100612904-100662230 Termination of O-glycan biosynthesis GO:0001558;regulation of cell growth;NAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/MUC12 https://www.ncbi.nlm.nih.gov/omim/?term=604609 http://www.informatics.jax.org/searchtool/Search.do?query=MUC12&submit=Quick%0D%17489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC12 rs6956165 0 0 0 1 0 0 intronic intronic intronic MUC12 MUC12 ENSG00000205277 Na Na Na Na Na Na Het;A>C 43;4|3 Ref Hom;A>C 123;0|4 N N - 7 101967698 101967698 C A snp ncRNA_exonic AC091390.1 rs803103 0.565895 0 0 1 0 0 intergenic intergenic ncRNA_exonic SH2B2(dist=5520),SPDYE6(dist=18494) SH2B2(dist=5520),DQ595418(dist=11706) ENSG00000170409 Na Na Na Na Na Na Het;C>A 3050;143|135 Het;C>A 2617;108|119 Hom;C>A 6447;0|236 N N - 7 101977945 101977945 C T snp ncRNA_intronic AC091390.2 rs803118 0.541733 0 0 1 0 0 intergenic intergenic ncRNA_intronic SH2B2(dist=15767),SPDYE6(dist=8247) SH2B2(dist=15767),DQ595418(dist=1459) ENSG00000228546 Na Na Na Na Na Na Het;C>T 2129;85|81 Het;C>T 1688;65|64 Hom;C>T 4727;0|150 N N - 7 101987656 101987656 A G snp ncRNA_exonic ENSG00000166667 rs803081 0 0 0 1 0 0 UTR3 UTR3 ncRNA_exonic SPDYE6(NM_001146210:c.*51T>C) SPDYE6(uc011kkp.2:c.*51T>C) ENSG00000166667 Na Na Na Na Na Na Het;A>G 3004;127|147 Het;A>G 1959;115|103 Hom;A>G 3551;2|137 N N - 7 102108900 102108900 G A snp intronic LRWD1 Lrwd1 ENSG00000161036 leucine rich repeats and WD repeat domain containing 1 chr7:102105376-102113615 The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] GO:0006260;DNA replication;IEA|GO:0006270;DNA replication initiation;TAS|GO:0006325;chromatin organization;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0071169;establishment of protein localization to chromatin;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0031933;telomeric heterochromatin;IDA GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI|GO:0008327;methyl-CpG binding;IDA|GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRWD1 https://www.ncbi.nlm.nih.gov/omim/?term=615167 http://www.informatics.jax.org/searchtool/Search.do?query=LRWD1&submit=Quick%0D%10552ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRWD1 rs62483806 0.0335463 0 0 1 0 0 intronic intronic intronic LRWD1 LRWD1 ENSG00000161036 Na Na Na Na Na Na Het;G>A 1082;60|43 Het;G>A 996;40|38 Hom;G>A 2132;0|71 N N - 7 102716415 102716415 T C snp intronic ARMC10 Armc10 ENSG00000282813 armadillo repeat containing 10 chr7:102715328-102740205 This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011] Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/ARMC10 https://www.ncbi.nlm.nih.gov/omim/?term=611864 http://www.informatics.jax.org/searchtool/Search.do?query=ARMC10&submit=Quick%0D%22616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARMC10 rs62482903 0.0277556 0 0 1 0 0 intronic intronic intronic ARMC10 ARMC10 ENSG00000170632 Na Na Na Na Na Na Het;T>C 999;23|38 Het;T>C 717;26|26 Hom;T>C 970;0|30 N N - 7 10275598 10275598 C T snp intergenic PER4 rs7791960 0.491014 0 0 1 0 0 intergenic intergenic intergenic PER4(dist=600151),NDUFA4(dist=695982) U3(dist=12960),NDUFA4(dist=695982) ENSG00000212422(dist=12961),ENSG00000229091(dist=215340) Na Na Na Na Na Na Het;C>T 145;1|5 Het;C>T 243;5|9 Hom;C>T 381;0|13 N N - 7 103138727 103138731 TAAAA T indel ncRNA_intronic AC005064.1 rs79694224 0.0523163 0.1037 0.1037 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC101927870 RELN ENSG00000234715 Na Na Na Na Na Na Het;-AAAA 3022;80|80 Het;-AAAA 2709;65|71 Hom;-AAAA 6670;2|155 N N - 7 103153462 103153462 A C snp ncRNA_exonic LOC101927870 rs3808035 0.533746 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC101927870 RELN ENSG00000234715 Na Na Na Na Na Na Het;A>C 3295;98|134 Het;A>C 2105;114|95 Hom;A>C 5746;2|212 N N - 7 103162370 103162370 C T snp intronic RELN Reln ENSG00000189056 reelin chr7:103112231-103629963 This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. Reelin signalling pathway GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/RELN https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600514 http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN rs10282605 0.747604 0 0 1 0 0 intronic intronic intronic RELN RELN ENSG00000189056 Na Na Na Na Na Na Het;C>T 115;2|4 Ref Hom;C>T 97;0|3 N N - 7 103175965 103175965 C T snp intronic RELN Reln ENSG00000189056 reelin chr7:103112231-103629963 This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. Reelin signalling pathway GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/RELN https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600514 http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN rs362706 0.710264 0.7569 0.7396 1 0 0 intronic intronic intronic RELN RELN ENSG00000189056 Na Na Na Na Na Na Het;C>T 1319;57|62 Het;C>T 1279;65|61 Hom;C>T 3432;0|127 N N - 7 103176052 103176052 C T snp intronic RELN Reln ENSG00000189056 reelin chr7:103112231-103629963 This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. Reelin signalling pathway GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/RELN https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600514 http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN rs362707 0.586661 0 0 1 0 0 intronic intronic intronic RELN RELN ENSG00000189056 Na Na Na Na Na Na Het;C>T 711;27|30 Het;C>T 505;56|27 Hom;C>T 1768;0|64 N N - 7 103176172 103176177 ATAAAG A indel intronic RELN Reln ENSG00000189056 reelin chr7:103112231-103629963 This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. Reelin signalling pathway GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/RELN https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600514 http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN rs141307954 0.586661 0 0 1 0 0 intronic intronic intronic RELN RELN ENSG00000189056 Na Na Na Na Na Na Het;-TAAAG 41;2|2 Ref Hom;-TAAAG 188;0|5 N N - 7 103191428 103191428 C T snp intronic RELN Reln ENSG00000189056 reelin chr7:103112231-103629963 This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. Reelin signalling pathway GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/RELN https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600514 http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN rs362721 0.320088 0 0 1 0 0 intronic intronic intronic RELN RELN ENSG00000189056 Na Na Na Na Na Na Het;C>T 632;15|25 Het;C>T 509;11|20 Hom;C>T 968;2|36 N N - 7 10525609 10525609 C T snp intergenic PER4 rs2352128 0.807508 0 0 1 0 0 intergenic intergenic intergenic PER4(dist=850162),NDUFA4(dist=445971) U3(dist=262971),NDUFA4(dist=445971) ENSG00000234356(dist=9104),ENSG00000236414(dist=216694) Na Na Na Na Na Na Het;C>T 186;1|7 Ref Hom;C>T 283;0|9 N N - 7 105621512 105621512 G T snp synonymous SNV G84T L28L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDHR3 Cdhr3 ENSG00000128536 cadherin related family member 3 chr7:105517242-105676877 Warfarin; Tunica Media; monocyte chemoattractant protein 1 (66-77); Behcet Syndrome GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDHR3 https://www.uniprot.org/uniprot/Q6ZTQ4 https://www.ncbi.nlm.nih.gov/omim/?term=615610 http://www.informatics.jax.org/searchtool/Search.do?query=CDHR3&submit=Quick%0D%6146ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDHR3 rs193795 0.458067 0.3931 0.4749 1 0 0 exonic exonic exonic CDHR3 CDHR3 ENSG00000128536 synonymous SNV synonymous SNV unknown CDHR3:NM_001301161:exon2:c.G84T:p.L28L,CDHR3:NM_152750:exon3:c.G348T:p.L116L, CDHR3:uc003vdm.4:exon3:c.G309T:p.L103L,CDHR3:uc003vdl.4:exon3:c.G348T:p.L116L,CDHR3:uc011klt.2:exon2:c.G84T:p.L28L, UNKNOWN Het;G>T 1114;75|52 Het;G>T 1263;71|64 Hom;G>T 2783;0|104 N N - 7 105702700 105702700 G GA indel intergenic CDHR3 Cdhr3 ENSG00000128536 cadherin related family member 3 chr7:105517242-105676877 Warfarin; Tunica Media; monocyte chemoattractant protein 1 (66-77); Behcet Syndrome GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016032;viral process;IEA|GO:0046718;viral entry into host cell;IEA GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDHR3 https://www.uniprot.org/uniprot/Q6ZTQ4 https://www.ncbi.nlm.nih.gov/omim/?term=615610 http://www.informatics.jax.org/searchtool/Search.do?query=CDHR3&submit=Quick%0D%6146ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDHR3 rs35068635 0.361022 0 0 1 0 0 intergenic intergenic intergenic CDHR3(dist=25823),SYPL1(dist=28114) CDHR3(dist=25823),SYPL1(dist=28114) ENSG00000128536(dist=25823),ENSG00000008282(dist=28249) Na Na Na Na Na Na Het;+A 54;7|3 Ref Hom;+A 447;0|12 N N - 7 106508978 106508978 A G snp synonymous SNV A972G P324P hydrophobic,neutral hydrophobic,neutral PIK3CG Pik3cg ENSG00000105851 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma chr7:106505723-106547590 Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015] Hepatitis C|Remission, Spontaneous; Anticonvulsants; Insulin Resistance|Obesity, Morbid; several psychiatric disorders; esophageal adenocarcinoma; HIV; breast cancer; Hypercholesterolemia|LDLC levels; longevity; mean platelet volume; BMI- Edema rosiglitazone or pioglitazone; Autism Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. G beta:gamma signalling through PI3Kgamma GO:0001525;angiogenesis;IEA|GO:0001816;cytokine production;TAS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002250;adaptive immune response;TAS|GO:0002376;immune system process;IEA|GO:0002407;dendritic cell chemotaxis;TAS|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002679;respiratory burst involved in defense response;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006897;endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0010818;T cell chemotaxis;TAS|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0016310;phosphorylation;IDA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0032252;secretory granule localization;IEA|GO:0033628;regulation of cell adhesion mediated by integrin;TAS|GO:0035747;natural killer cell chemotaxis;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042098;T cell proliferation;TAS|GO:0042110;T cell activation;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043303;mast cell degranulation;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045087;innate immune response;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055118;negative regulation of cardiac muscle contraction;TAS|GO:0070527;platelet aggregation;TAS|GO:0071320;cellular response to cAMP;IEA|GO:0072672;neutrophil extravasation;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA|GO:2000270;negative regulation of fibroblast apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IEA|GO:0005944;phosphatidylinositol 3-kinase complex, class IB;IDA|GO:0016020;membrane;IDA|GO:0042629;mast cell granule;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3CG https://www.uniprot.org/uniprot/P48736 https://www.ncbi.nlm.nih.gov/omim/?term=601232 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CG&submit=Quick%0D%3399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CG rs849389 0.939497 0.9174 0.9490 1 0 0 exonic exonic exonic PIK3CG PIK3CG ENSG00000105851 synonymous SNV synonymous SNV unknown PIK3CG:NM_001282426:exon2:c.A972G:p.P324P,PIK3CG:NM_001282427:exon2:c.A972G:p.P324P,PIK3CG:NM_002649:exon2:c.A972G:p.P324P, PIK3CG:uc003vdv.4:exon2:c.A972G:p.P324P,PIK3CG:uc003vdw.3:exon2:c.A972G:p.P324P,PIK3CG:uc003vdu.3:exon2:c.A972G:p.P324P, UNKNOWN Het;A>G 4967;120|129 Het;A>G 4038;116|108 Hom;A>G 11063;0|249 N N - 7 106508987 106508987 T C snp synonymous SNV T981C D327D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PIK3CG Pik3cg ENSG00000105851 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma chr7:106505723-106547590 Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015] Hepatitis C|Remission, Spontaneous; Anticonvulsants; Insulin Resistance|Obesity, Morbid; several psychiatric disorders; esophageal adenocarcinoma; HIV; breast cancer; Hypercholesterolemia|LDLC levels; longevity; mean platelet volume; BMI- Edema rosiglitazone or pioglitazone; Autism Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. G beta:gamma signalling through PI3Kgamma GO:0001525;angiogenesis;IEA|GO:0001816;cytokine production;TAS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002250;adaptive immune response;TAS|GO:0002376;immune system process;IEA|GO:0002407;dendritic cell chemotaxis;TAS|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002679;respiratory burst involved in defense response;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006897;endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0010818;T cell chemotaxis;TAS|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0016310;phosphorylation;IDA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0032252;secretory granule localization;IEA|GO:0033628;regulation of cell adhesion mediated by integrin;TAS|GO:0035747;natural killer cell chemotaxis;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042098;T cell proliferation;TAS|GO:0042110;T cell activation;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043303;mast cell degranulation;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045087;innate immune response;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055118;negative regulation of cardiac muscle contraction;TAS|GO:0070527;platelet aggregation;TAS|GO:0071320;cellular response to cAMP;IEA|GO:0072672;neutrophil extravasation;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA|GO:2000270;negative regulation of fibroblast apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IEA|GO:0005944;phosphatidylinositol 3-kinase complex, class IB;IDA|GO:0016020;membrane;IDA|GO:0042629;mast cell granule;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3CG https://www.uniprot.org/uniprot/P48736 https://www.ncbi.nlm.nih.gov/omim/?term=601232 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CG&submit=Quick%0D%3399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CG rs849390 0.940895 0.9187 0.9502 1 0 0 exonic exonic exonic PIK3CG PIK3CG ENSG00000105851 synonymous SNV synonymous SNV unknown PIK3CG:NM_001282426:exon2:c.T981C:p.D327D,PIK3CG:NM_001282427:exon2:c.T981C:p.D327D,PIK3CG:NM_002649:exon2:c.T981C:p.D327D, PIK3CG:uc003vdv.4:exon2:c.T981C:p.D327D,PIK3CG:uc003vdw.3:exon2:c.T981C:p.D327D,PIK3CG:uc003vdu.3:exon2:c.T981C:p.D327D, UNKNOWN Het;T>C 4989;122|131 Het;T>C 4094;115|106 Hom;T>C 11139;0|252 N N - 7 106510076 106510076 A G snp intronic PIK3CG Pik3cg ENSG00000105851 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma chr7:106505723-106547590 Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015] Hepatitis C|Remission, Spontaneous; Anticonvulsants; Insulin Resistance|Obesity, Morbid; several psychiatric disorders; esophageal adenocarcinoma; HIV; breast cancer; Hypercholesterolemia|LDLC levels; longevity; mean platelet volume; BMI- Edema rosiglitazone or pioglitazone; Autism Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. G beta:gamma signalling through PI3Kgamma GO:0001525;angiogenesis;IEA|GO:0001816;cytokine production;TAS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002250;adaptive immune response;TAS|GO:0002376;immune system process;IEA|GO:0002407;dendritic cell chemotaxis;TAS|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002679;respiratory burst involved in defense response;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006897;endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0010818;T cell chemotaxis;TAS|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0016310;phosphorylation;IDA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0032252;secretory granule localization;IEA|GO:0033628;regulation of cell adhesion mediated by integrin;TAS|GO:0035747;natural killer cell chemotaxis;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042098;T cell proliferation;TAS|GO:0042110;T cell activation;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043303;mast cell degranulation;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045087;innate immune response;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055118;negative regulation of cardiac muscle contraction;TAS|GO:0070527;platelet aggregation;TAS|GO:0071320;cellular response to cAMP;IEA|GO:0072672;neutrophil extravasation;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA|GO:2000270;negative regulation of fibroblast apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IEA|GO:0005944;phosphatidylinositol 3-kinase complex, class IB;IDA|GO:0016020;membrane;IDA|GO:0042629;mast cell granule;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3CG https://www.uniprot.org/uniprot/P48736 https://www.ncbi.nlm.nih.gov/omim/?term=601232 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CG&submit=Quick%0D%3399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CG rs1526083 0.387979 0 0 1 0 0 intronic intronic intronic PIK3CG PIK3CG ENSG00000105851 Na Na Na Na Na Na Het;A>G 314;9|11 Het;A>G 90;13|5 Hom;A>G 265;0|8 N N - 7 106519943 106519943 T C snp intronic PIK3CG Pik3cg ENSG00000105851 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma chr7:106505723-106547590 Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015] Hepatitis C|Remission, Spontaneous; Anticonvulsants; Insulin Resistance|Obesity, Morbid; several psychiatric disorders; esophageal adenocarcinoma; HIV; breast cancer; Hypercholesterolemia|LDLC levels; longevity; mean platelet volume; BMI- Edema rosiglitazone or pioglitazone; Autism Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. G beta:gamma signalling through PI3Kgamma GO:0001525;angiogenesis;IEA|GO:0001816;cytokine production;TAS|GO:0001932;regulation of protein phosphorylation;IEA|GO:0002250;adaptive immune response;TAS|GO:0002376;immune system process;IEA|GO:0002407;dendritic cell chemotaxis;TAS|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002679;respiratory burst involved in defense response;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006897;endocytosis;IEA|GO:0006935;chemotaxis;IEA|GO:0006954;inflammatory response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0010818;T cell chemotaxis;TAS|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0014065;phosphatidylinositol 3-kinase signaling;IDA|GO:0016310;phosphorylation;IDA|GO:0030168;platelet activation;TAS|GO:0030593;neutrophil chemotaxis;TAS|GO:0032252;secretory granule localization;IEA|GO:0033628;regulation of cell adhesion mediated by integrin;TAS|GO:0035747;natural killer cell chemotaxis;TAS|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042098;T cell proliferation;TAS|GO:0042110;T cell activation;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043303;mast cell degranulation;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045087;innate immune response;TAS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0055118;negative regulation of cardiac muscle contraction;TAS|GO:0070527;platelet aggregation;TAS|GO:0071320;cellular response to cAMP;IEA|GO:0072672;neutrophil extravasation;TAS|GO:0097284;hepatocyte apoptotic process;IEA|GO:1903169;regulation of calcium ion transmembrane transport;IEA|GO:2000270;negative regulation of fibroblast apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005942;phosphatidylinositol 3-kinase complex;IEA|GO:0005944;phosphatidylinositol 3-kinase complex, class IB;IDA|GO:0016020;membrane;IDA|GO:0042629;mast cell granule;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;IBA|GO:0046875;ephrin receptor binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PIK3CG https://www.uniprot.org/uniprot/P48736 https://www.ncbi.nlm.nih.gov/omim/?term=601232 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3CG&submit=Quick%0D%3399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3CG rs849370 0.940695 0.9208 0.9484 1 0 0 intronic intronic intronic PIK3CG PIK3CG ENSG00000105851 Na Na Na Na Na Na Het;T>C 859;35|34 Het;T>C 1256;33|48 Hom;T>C 3140;0|113 N N - 7 107613379 107613379 G A snp intronic LAMB1 Lamb1 ENSG00000091136 laminin subunit beta 1 chr7:107564244-107643700 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011] Colitis, Ulcerative; ulcerative colitis; Body Height; Colitis, Ulcerative|; Alcoholism; Metabolism; Autism; kidney aging; Heart Rate Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. Mice heterozygous for a spontaneous mutation exhibit dystonis with impaired neuron firing. Post-translational protein phosphorylation GO:0007155;cell adhesion;TAS|GO:0021812;neuronal-glial interaction involved in cerebral cortex radial glia guided migration;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031175;neuron projection development;IDA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0035987;endodermal cell differentiation;IEP|GO:0042476;odontogenesis;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050679;positive regulation of epithelial cell proliferation;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005606;laminin-1 complex;TAS|GO:0005607;laminin-2 complex;IDA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043257;laminin-8 complex;IDA|GO:0043259;laminin-10 complex;IDA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;NAS|GO:0005201;extracellular matrix structural constituent;IDA http://www.genecards.org/index.php?path=/Search/keyword/LAMB1 https://www.uniprot.org/uniprot/P07942 https://hpo.jax.org/app/browse/search?q=LAMB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150240 http://www.informatics.jax.org/searchtool/Search.do?query=LAMB1&submit=Quick%0D%2137ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMB1 rs2701034 0.665535 0.6053 0 1 0 0 intronic intronic intronic LAMB1 LAMB1 ENSG00000091136 Na Na Na Na Na Na Het;G>A 641;30|27 Ref Hom;G>A 812;0|28 N N - 7 107800953 107800953 A G snp UTR5 -18T>C NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs12670313 0.580671 0.5837 0.6824 1 0 0 intronic UTR5 intronic NRCAM NRCAM(uc003vfa.3:c.-18T>C) ENSG00000091129 Na Na Na Na Na Na Het;A>G 1220;31|51 Het;A>G 887;57|42 Hom;A>G 2770;0|100 N N - 7 107808639 107808639 A G snp intronic NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs12537654 0.579273 0 0 1 0 0 intronic intronic intronic NRCAM NRCAM ENSG00000091129 Na Na Na Na Na Na Het;A>G 373;2|13 Het;A>G 328;11|12 Hom;A>G 803;0|25 N N - 7 107815858 107815858 T A snp intronic NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs11983886 0.655751 0.6397 0 1 0 0 intronic intronic intronic NRCAM NRCAM ENSG00000091129 Na Na Na Na Na Na Het;T>A 692;23|33 Het;T>A 786;32|38 Hom;T>A 2206;0|78 N N - 7 107824556 107824558 TTA T indel intronic NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs10561815 0.857428 0 0 1 0 0 intronic intronic intronic NRCAM NRCAM ENSG00000091129 Na Na Na Na Na Na Het;-TA 116;8|6 Ref Hom;-TA 102;0|4 N N - 7 107834613 107834613 G C snp nonsynonymous SNV C1615G P539A hydrophobic,neutral aliphatic,hydrophobic,neutral NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs6958498 0.698882 0.6872 0.7562 0.38 5 13 exonic exonic exonic NRCAM NRCAM ENSG00000091129 nonsynonymous SNV nonsynonymous SNV unknown NRCAM:NM_005010:exon16:c.C1615G:p.P539A,NRCAM:NM_001193582:exon17:c.C1633G:p.P545A,NRCAM:NM_001037132:exon14:c.C1633G:p.P545A,NRCAM:NM_001193583:exon16:c.C1576G:p.P526A,NRCAM:NM_001193584:exon16:c.C1576G:p.P526A, NRCAM:uc003vfc.3:exon16:c.C1615G:p.P539A,NRCAM:uc003vfd.3:exon16:c.C1576G:p.P526A,NRCAM:uc022aka.1:exon14:c.C1633G:p.P545A,NRCAM:uc003vfe.3:exon16:c.C1576G:p.P526A,NRCAM:uc011kmk.2:exon17:c.C1633G:p.P545A, UNKNOWN Het;G>C 1666;75|64 Het;G>C 1449;78|62 Hom;G>C 3848;0|140 N N - 7 107834624 107834624 T C snp intronic NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs6978315 0.698882 0.6872 0.7562 1 0 0 intronic intronic intronic NRCAM NRCAM ENSG00000091129 Na Na Na Na Na Na Het;T>C 1644;77|67 Het;T>C 1508;81|62 Hom;T>C 3887;0|138 N N - 7 107834734 107834734 C T snp synonymous SNV G1584A A528A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs404287 0.697684 0.6872 0.7559 1 0 0 exonic exonic exonic NRCAM NRCAM ENSG00000091129 synonymous SNV synonymous SNV unknown NRCAM:NM_005010:exon15:c.G1584A:p.A528A,NRCAM:NM_001193582:exon16:c.G1602A:p.A534A,NRCAM:NM_001037132:exon13:c.G1602A:p.A534A,NRCAM:NM_001193583:exon15:c.G1545A:p.A515A,NRCAM:NM_001193584:exon15:c.G1545A:p.A515A, NRCAM:uc003vfc.3:exon15:c.G1584A:p.A528A,NRCAM:uc003vfd.3:exon15:c.G1545A:p.A515A,NRCAM:uc022aka.1:exon13:c.G1602A:p.A534A,NRCAM:uc003vfe.3:exon15:c.G1545A:p.A515A,NRCAM:uc011kmk.2:exon16:c.G1602A:p.A534A, UNKNOWN Het;C>T 1844;114|87 Het;C>T 2011;117|91 Hom;C>T 5224;2|200 N N - 7 107836117 107836118 GT G indel intronic NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs35825013 0.699281 0 0 1 0 0 intronic intronic intronic NRCAM NRCAM ENSG00000091129 Na Na Na Na Na Na Het;-T 464;17|21 Het;-T 548;13|24 Hom;-T 746;0|27 N N - 7 107838464 107838464 G T snp synonymous SNV C1269A V423V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs381318 0.661342 0.6272 0.7068 1 0 0 exonic exonic exonic NRCAM NRCAM ENSG00000091129 synonymous SNV synonymous SNV unknown NRCAM:NM_005010:exon13:c.C1269A:p.V423V,NRCAM:NM_001193582:exon14:c.C1287A:p.V429V,NRCAM:NM_001037132:exon11:c.C1287A:p.V429V,NRCAM:NM_001193583:exon13:c.C1230A:p.V410V,NRCAM:NM_001193584:exon13:c.C1230A:p.V410V, NRCAM:uc003vfc.3:exon13:c.C1269A:p.V423V,NRCAM:uc003vfd.3:exon13:c.C1230A:p.V410V,NRCAM:uc022aka.1:exon11:c.C1287A:p.V429V,NRCAM:uc003vfe.3:exon13:c.C1230A:p.V410V,NRCAM:uc011kmk.2:exon14:c.C1287A:p.V429V, UNKNOWN Het;G>T 1114;84|58 Het;G>T 1583;105|79 Hom;G>T 4217;0|160 N N - 7 107849908 107849908 G A snp synonymous SNV C1014T N338N polar,hydrophilic,neutral polar,hydrophilic,neutral NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs1269621 0.584864 0.5212 0.5528 1 0 0 exonic exonic exonic NRCAM NRCAM ENSG00000091129 synonymous SNV synonymous SNV unknown NRCAM:NM_005010:exon11:c.C1014T:p.N338N,NRCAM:NM_001193582:exon12:c.C1032T:p.N344N,NRCAM:NM_001037132:exon9:c.C1032T:p.N344N,NRCAM:NM_001193583:exon11:c.C975T:p.N325N,NRCAM:NM_001193584:exon11:c.C975T:p.N325N, NRCAM:uc003vfc.3:exon11:c.C1014T:p.N338N,NRCAM:uc003vfd.3:exon11:c.C975T:p.N325N,NRCAM:uc022aka.1:exon9:c.C1032T:p.N344N,NRCAM:uc003vfe.3:exon11:c.C975T:p.N325N,NRCAM:uc011kmk.2:exon12:c.C1032T:p.N344N, UNKNOWN Het;G>A 1306;87|62 Het;G>A 1637;104|78 Hom;G>A 4825;0|182 N N - 7 107880612 107880612 A G snp UTR5 -104T>C NRCAM Nrcam ENSG00000091129 neuronal cell adhesion molecule chr7:107788068-108097161 Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Schizophrenia; schizophrenia; autism obsessive compulsive disorder; Autism; several psychiatric disorders; mathematics ability; Tobacco Use Disorder Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. Neurofascin interactions GO:0001525;angiogenesis;IEP|GO:0001764;neuron migration;NAS|GO:0007155;cell adhesion;IEA|GO:0007409;axonogenesis;NAS|GO:0007411;axon guidance;IEA|GO:0007413;axonal fasciculation;NAS|GO:0007416;synapse assembly;TAS|GO:0007417;central nervous system development;NAS|GO:0008104;protein localization;IEA|GO:0010975;regulation of neuron projection development;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0019227;neuronal action potential propagation;IEA|GO:0030516;regulation of axon extension;NAS|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0045162;clustering of voltage-gated sodium channels;IDA|GO:0045666;positive regulation of neuron differentiation;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;NAS|GO:0043194;axon initial segment;ISS|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0030506;ankyrin binding;IDA|GO:0086080;protein binding involved in heterotypic cell-cell adhesion;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRCAM https://www.uniprot.org/uniprot/Q92823 https://www.ncbi.nlm.nih.gov/omim/?term=601581 http://www.informatics.jax.org/searchtool/Search.do?query=NRCAM&submit=Quick%0D%2136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRCAM rs1269634 0.451677 0 0 1 0 0 UTR5 UTR5 UTR5 NRCAM(NM_001193583:c.-104T>C,NM_001193582:c.-104T>C,NM_001193584:c.-104T>C,NM_005010:c.-104T>C,NM_001037132:c.-104T>C) NRCAM(uc022aka.1:c.-104T>C,uc011kmk.2:c.-104T>C,uc003vfd.3:c.-104T>C,uc003vfe.3:c.-104T>C,uc003vfc.3:c.-104T>C) ENSG00000091129(ENST00000413765:c.-104T>C,ENST00000379028:c.-104T>C,ENST00000351718:c.-104T>C,ENST00000379024:c.-104T>C,ENST00000379022:c.-104T>C,ENST00000417701:c.-104T>C,ENST00000442580:c.-104T>C,ENST00000456431:c.-104T>C,ENST00000419936:c.-104T>C,ENST00000418239:c.-104T>C) Na Na Na Na Na Na Het;A>G 520;18|18 Het;A>G 512;18|20 Hom;A>G 709;0|27 N N - 7 108722955 108722955 G A snp intergenic C7orf66 rs7779298 0.429313 0 0 1 0 0 intergenic intergenic intergenic C7orf66(dist=198311),EIF3IP1(dist=876329) C7orf66(dist=198318),EIF3IP1(dist=876329) ENSG00000227968(dist=87869),ENSG00000230941(dist=239422) Na Na Na Na Na Na Het;G>A 1486;84|71 Het;G>A 1577;40|71 Hom;G>A 5188;6|200 N N - 7 110100334 110100334 T C snp ncRNA_intronic AC092167.1 rs437486 0.609225 0 0 1 0 0 intergenic intergenic ncRNA_intronic EIF3IP1(dist=500064),IMMP2L(dist=202772) EIF3IP1(dist=500064),IMMP2L(dist=202772) ENSG00000226965 Na Na Na Na Na Na Het;T>C 634;29|27 Ref Hom;T>C 2290;0|85 N N - 7 110197362 110197362 C T snp intergenic EIF3IP1 rs12333992 0.190695 0 0 1 0 0 intergenic intergenic intergenic EIF3IP1(dist=597092),IMMP2L(dist=105744) EIF3IP1(dist=597092),IMMP2L(dist=105744) ENSG00000226965(dist=22551),ENSG00000184903(dist=105748) Na Na Na Na Na Na Het;C>T 252;5|8 Het;C>T 49;13|3 Hom;C>T 258;0|7 N N - 7 110197412 110197412 G C snp intergenic EIF3IP1 rs13231398 0.161142 0 0 1 0 0 intergenic intergenic intergenic EIF3IP1(dist=597142),IMMP2L(dist=105694) EIF3IP1(dist=597142),IMMP2L(dist=105694) ENSG00000226965(dist=22601),ENSG00000184903(dist=105698) Na Na Na Na Na Na Het;G>C 295;23|13 Het;G>C 552;23|28 Hom;G>C 584;0|23 N N - 7 111210731 111210731 C A snp intergenic IMMP2L Immp2l ENSG00000184903 inner mitochondrial membrane peptidase subunit 2 chr7:110303110-111202573 This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011] Autism; Heart Failure; Electrocardiography; Tobacco Use Disorder; Lipoproteins; Cognitive performance; Acquired Immunodeficiency Syndrome|Disease Progression; ADHD | attention-deficit hyperactivity disorder; Psychomotor Performance; Body Height; Psychiatric Disorders; Celiac Disease| Mice homozygous for a transgenic gene disruption exhibit reduced fertility, abnormal cellular respiration, and decreased body weight. GO:0001541;ovarian follicle development;IEA|GO:0006465;signal peptide processing;IBA|GO:0006508;proteolysis;IEA|GO:0006627;protein processing involved in protein targeting to mitochondrion;ISS|GO:0006801;superoxide metabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007283;spermatogenesis;IEA|GO:0007420;brain development;IEA|GO:0008015;blood circulation;IEA|GO:0022904;respiratory electron transport chain;IEA|GO:0030728;ovulation;IEA|GO:0033108;mitochondrial respiratory chain complex assembly;IBA|GO:0061300;cerebellum vasculature development;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042720;mitochondrial inner membrane peptidase complex;ISS GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/IMMP2L https://www.ncbi.nlm.nih.gov/omim/?term=605977 http://www.informatics.jax.org/searchtool/Search.do?query=IMMP2L&submit=Quick%0D%15291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IMMP2L rs7797327 0.804712 0 0 1 0 0 intergenic intergenic intergenic IMMP2L(dist=8158),DOCK4(dist=155433) IMMP2L(dist=8158),DOCK4(dist=155433) ENSG00000184903(dist=8158),ENSG00000128512(dist=155435) Na Na Na Na Na Na Het;C>A 459;16|21 Het;C>A 382;16|18 Hom;C>A 935;0|34 N N - 7 111640504 111640504 T G snp intronic DOCK4 Dock4 ENSG00000128512 dedicator of cytokinesis 4 chr7:111366166-111846466 This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008] Autism; Triglycerides; Respiratory Function Tests; Respiration Disorders; autism; Electrocardiography; Heart Rate; Cholesterol; Tobacco Use Disorder; Blood Pressure; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation. Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060326;cell chemotaxis;IMP|GO:1904694;negative regulation of vascular smooth muscle contraction;IMP|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IMP GO:0005622;intracellular;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0032420;stereocilium;ISS|GO:0032421;stereocilium bundle;ISS|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DOCK4 https://www.uniprot.org/uniprot/Q8N1I0 https://www.ncbi.nlm.nih.gov/omim/?term=607679 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK4&submit=Quick%0D%6141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK4 rs62474283 0.300919 0 0.2775 1 0 0 intronic intronic intronic DOCK4 DOCK4 ENSG00000128512 Na Na Na Na Na Na Het;T>G 347;1|9 Ref Hom;T>G 647;0|15 N N - 7 111640508 111640512 TAATA T indel intronic DOCK4 Dock4 ENSG00000128512 dedicator of cytokinesis 4 chr7:111366166-111846466 This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008] Autism; Triglycerides; Respiratory Function Tests; Respiration Disorders; autism; Electrocardiography; Heart Rate; Cholesterol; Tobacco Use Disorder; Blood Pressure; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation. Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060326;cell chemotaxis;IMP|GO:1904694;negative regulation of vascular smooth muscle contraction;IMP|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IMP GO:0005622;intracellular;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0032420;stereocilium;ISS|GO:0032421;stereocilium bundle;ISS|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0048365;Rac GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DOCK4 https://www.uniprot.org/uniprot/Q8N1I0 https://www.ncbi.nlm.nih.gov/omim/?term=607679 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK4&submit=Quick%0D%6141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK4 rs148172772 0.300919 0.1943 0.2919 1 0 0 intronic intronic intronic DOCK4 DOCK4 ENSG00000128512 Na Na Na Na Na Na Het;-AATA 389;2|11 Ref Hom;-AATA 638;0|15 N N - 7 11208989 11208989 C A snp intronic PHF14 Phf14 ENSG00000106443 PHD finger protein 14 chr7:11013499-11209250 Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0048286;lung alveolus development;IEA|GO:0072201;negative regulation of mesenchymal cell proliferation;IEA|GO:2000584;negative regulation of platelet-derived growth factor receptor-alpha signaling pathway;IEA|GO:2000791;negative regulation of mesenchymal cell proliferation involved in lung development;IEA GO:0005634;nucleus;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF14 https://www.uniprot.org/uniprot/O94880 http://www.informatics.jax.org/searchtool/Search.do?query=PHF14&submit=Quick%0D%3501ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF14 rs28394821 0.40595 0 0 1 0 0 intergenic intronic intronic NONE(dist=NONE),NONE(dist=NONE) PHF14 ENSG00000106443 Na Na Na Na Na Na Het;C>A 40;2|2 Ref Hom;C>A 120;0|6 N N - 7 113520262 113520262 C T snp intronic PPP1R3A Ppp1r3a ENSG00000154415 protein phosphatase 1 regulatory subunit 3A chr7:113516832-113715975 The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008] Cholesterol, HDL; Alzheimer's Disease; diabetes, type 2; hypertriglyceridemic waist; polycystic ovary syndrome; diabetes; insulin sensitivity; Chronic renal failure|Kidney Failure, Chronic; Waist-Hip Ratio; metabolic syndrome; diabetes, type 2; Waist Circumference; colorectal cancer; Kidney Failure, Chronic; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity. GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R3A https://www.uniprot.org/uniprot/Q16821 https://hpo.jax.org/app/browse/search?q=PPP1R3A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600917 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R3A&submit=Quick%0D%9767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R3A rs11973095 0.318291 0 0 1 0 0 intronic intronic intronic PPP1R3A PPP1R3A ENSG00000154415 Na Na Na Na Na Na Het;C>T 92;5|4 Ref Hom;C>T 481;0|15 N N - 7 11509561 11509561 G C snp nonsynonymous SNV C2313G D771E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) THSD7A Thsd7a ENSG00000005108 thrombospondin type 1 domain containing 7A chr7:11409984-11871824 The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight O-glycosylation of TSR domain-containing proteins GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/THSD7A https://www.uniprot.org/uniprot/Q9UPZ6 https://www.ncbi.nlm.nih.gov/omim/?term=612249 http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A rs2285744 0.278754 0.3461 0.4303 0.69 9 13 exonic exonic exonic THSD7A THSD7A ENSG00000005108 nonsynonymous SNV nonsynonymous SNV unknown THSD7A:NM_015204:exon9:c.C2313G:p.D771E, THSD7A:uc021zzn.1:exon9:c.C2313G:p.D771E,THSD7A:uc021zzo.1:exon9:c.C2313G:p.D771E, UNKNOWN Het;G>C 1125;67|51 Het;G>C 1484;83|68 Hom;G>C 3911;2|147 N N - 7 11581134 11581134 T C snp synonymous SNV A1734G A578A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral THSD7A Thsd7a ENSG00000005108 thrombospondin type 1 domain containing 7A chr7:11409984-11871824 The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight O-glycosylation of TSR domain-containing proteins GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/THSD7A https://www.uniprot.org/uniprot/Q9UPZ6 https://www.ncbi.nlm.nih.gov/omim/?term=612249 http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A rs2074603 0.471645 0.4323 0.4275 1 0 0 exonic exonic exonic THSD7A THSD7A ENSG00000005108 synonymous SNV synonymous SNV unknown THSD7A:NM_015204:exon6:c.A1734G:p.A578A, THSD7A:uc021zzn.1:exon6:c.A1734G:p.A578A,THSD7A:uc021zzo.1:exon6:c.A1734G:p.A578A, UNKNOWN Het;T>C 959;41|45 Het;T>C 1188;47|54 Hom;T>C 4060;0|95 N N - 7 11633193 11633193 G A snp intronic THSD7A Thsd7a ENSG00000005108 thrombospondin type 1 domain containing 7A chr7:11409984-11871824 The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight O-glycosylation of TSR domain-containing proteins GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/THSD7A https://www.uniprot.org/uniprot/Q9UPZ6 https://www.ncbi.nlm.nih.gov/omim/?term=612249 http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A rs2354954 0.445687 0 0 1 0 0 intronic intronic intronic THSD7A THSD7A ENSG00000005108 Na Na Na Na Na Na Het;G>A 179;8|8 Het;G>A 259;8|9 Hom;G>A 476;0|15 N N - 7 116421967 116421967 T C snp intronic MET Met ENSG00000105976 MET proto-oncogene, receptor tyrosine kinase chr7:116312444-116438440 This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016] Multiple Sclerosis; Myopia; Schizophrenia; autism; chronic obstructive pulmonary disease; Hip; Refractive Errors; cutaneous squamous cell carcinoma; Pancreatic Neoplasms; Nasal Polyps|Rhinitis|Sinusitis; multiple sclerosis (severity); lung cancer; head and neck cancer; lung cancer ; bladder cancer; refractive error and ocular biometrics; diabetes, type 2; Autism; Hyperparathyroidism, Secondary; Cell Transformation, Neoplastic|Neoplasms Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects. MET activates STAT3 GO:0000165;MAPK cascade;TAS|GO:0001886;endothelial cell morphogenesis;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0008283;cell proliferation;TAS|GO:0010507;negative regulation of autophagy;NAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0031116;positive regulation of microtubule polymerization;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IDA|GO:0035635;entry of bacterium into host cell;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048012;hepatocyte growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048754;branching morphogenesis of an epithelial tube;IMP|GO:0050918;positive chemotaxis;IDA|GO:0051497;negative regulation of stress fiber assembly;IDA|GO:0061436;establishment of skin barrier;IMP|GO:0070495;negative regulation of thrombin-activated receptor signaling pathway;IDA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:1901299;negative regulation of hydrogen peroxide-mediated programmed cell death;IMP|GO:1905098;negative regulation of guanyl-nucleotide exchange factor activity;IDA|GO:2001028;positive regulation of endothelial cell chemotaxis;IMP GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009925;basal plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0005008;hepatocyte growth factor-activated receptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017154;semaphorin receptor activity;IEA|GO:0019903;protein phosphatase binding;IPI|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/MET https://www.uniprot.org/uniprot/P08581 https://hpo.jax.org/app/browse/search?q=MET&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164860 http://www.informatics.jax.org/searchtool/Search.do?query=MET&submit=Quick%0D%3425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MET rs6947629 0.648562 0 0 1 0 0 intronic intronic intronic MET MET ENSG00000105976 Na Na Na Na Na Na Het;T>C 334;14|14 Het;T>C 234;15|11 Hom;T>C 716;0|24 N N - 7 116528240 116528240 C T snp synonymous SNV C99T F33F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral CAPZA2 Capza2 ENSG00000198898 capping actin protein of muscle Z-line alpha subunit 2 chr7:116451124-116562103 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] Factors involved in megakaryocyte development and platelet production GO:0006461;protein complex assembly;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007596;blood coagulation;TAS|GO:0045087;innate immune response;TAS|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0008290;F-actin capping protein complex;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030863;cortical cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPZA2 https://www.ncbi.nlm.nih.gov/omim/?term=601571 http://www.informatics.jax.org/searchtool/Search.do?query=CAPZA2&submit=Quick%0D%17067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPZA2 rs4808 0.323482 0.2780 0.2645 0.43 3 7 exonic exonic exonic CAPZA2 CAPZA2 ENSG00000198898 synonymous SNV synonymous SNV unknown CAPZA2:NM_006136:exon2:c.C99T:p.F33F, CAPZA2:uc003vil.3:exon2:c.C99T:p.F33F, UNKNOWN Het;C>T 2993;147|137 Het;C>T 2127;107|103 Hom;C>T 7001;0|260 N N - 7 116533204 116533204 A G snp intronic CAPZA2 Capza2 ENSG00000198898 capping actin protein of muscle Z-line alpha subunit 2 chr7:116451124-116562103 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] Factors involved in megakaryocyte development and platelet production GO:0006461;protein complex assembly;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007596;blood coagulation;TAS|GO:0045087;innate immune response;TAS|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0008290;F-actin capping protein complex;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030863;cortical cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPZA2 https://www.ncbi.nlm.nih.gov/omim/?term=601571 http://www.informatics.jax.org/searchtool/Search.do?query=CAPZA2&submit=Quick%0D%17067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPZA2 rs12706110 0.259984 0 0 1 0 0 intronic intronic intronic CAPZA2 CAPZA2 ENSG00000198898 Na Na Na Na Na Na Het;A>G 865;30|29 Het;A>G 203;17|9 Hom;A>G 1251;1|35 N N - 7 116557939 116557939 C T snp UTR3 *18C>T CAPZA2 Capza2 ENSG00000198898 capping actin protein of muscle Z-line alpha subunit 2 chr7:116451124-116562103 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] Factors involved in megakaryocyte development and platelet production GO:0006461;protein complex assembly;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007596;blood coagulation;TAS|GO:0045087;innate immune response;TAS|GO:0051016;barbed-end actin filament capping;IEA|GO:0051693;actin filament capping;IEA GO:0005576;extracellular region;TAS|GO:0005829;cytosol;TAS|GO:0005903;brush border;IEA|GO:0008290;F-actin capping protein complex;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030863;cortical cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPZA2 https://www.ncbi.nlm.nih.gov/omim/?term=601571 http://www.informatics.jax.org/searchtool/Search.do?query=CAPZA2&submit=Quick%0D%17067ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPZA2 rs3173936 0.259984 0.2129 0.2461 1 0 0 UTR3 UTR3 UTR3 CAPZA2(NM_006136:c.*18C>T) CAPZA2(uc003vil.3:c.*18C>T) ENSG00000198898(ENST00000361183:c.*18C>T,ENST00000458284:c.*280C>T,ENST00000426421:c.*374C>T) Na Na Na Na Na Na Het;C>T 846;58|43 Het;C>T 541;40|26 Hom;C>T 1738;2|60 N N - 7 11676377 11676377 G A snp synonymous SNV C402T P134P hydrophobic,neutral hydrophobic,neutral THSD7A Thsd7a ENSG00000005108 thrombospondin type 1 domain containing 7A chr7:11409984-11871824 The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] Tobacco Use Disorder; Cholesterol, HDL; Osteoporosis, Postmenopausal; Respiratory Function Tests; Iron; Electrocardiography; Aorta; Body Weights and Measures; bipolar disorder; Disease; Body Mass Index; Calcium; Body Height; Potassium; Uric Acid; Vitamin K; Exercise Test; Body Weight O-glycosylation of TSR domain-containing proteins GO:0001525;angiogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/THSD7A https://www.uniprot.org/uniprot/Q9UPZ6 https://www.ncbi.nlm.nih.gov/omim/?term=612249 http://www.informatics.jax.org/searchtool/Search.do?query=THSD7A&submit=Quick%0D%348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THSD7A rs2074598 0.266573 0.2198 0.2620 1 0 0 exonic exonic exonic THSD7A THSD7A ENSG00000005108 synonymous SNV synonymous SNV unknown THSD7A:NM_015204:exon2:c.C402T:p.P134P, THSD7A:uc021zzn.1:exon2:c.C402T:p.P134P,THSD7A:uc021zzo.1:exon2:c.C402T:p.P134P, UNKNOWN Het;G>A 2498;155|110 Het;G>A 1740;135|86 Hom;G>A 5626;2|206 N N - 7 116824338 116824339 TG T indel ncRNA_intronic ST7-OT3 rs61453355 0.455471 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic ST7-OT3 ST7-OT3 ENSG00000004866 Na Na Na Na Na Na Het;-G 48;9|3 Ref Hom;-G 870;0|24 N N - 7 117450792 117450792 A C snp intronic CTTNBP2 Cttnbp2 ENSG00000077063 cortactin binding protein 2 chr7:117350705-117514193 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008] Luteinizing Hormone; Tobacco Use Disorder; Iron; Coronary Artery Disease; Hip; Mental Competency; Pancreatic Neoplasms GO:0007420;brain development;IEA GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0008021;synaptic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTTNBP2 https://www.uniprot.org/uniprot/Q8WZ74 https://www.ncbi.nlm.nih.gov/omim/?term=609772 http://www.informatics.jax.org/searchtool/Search.do?query=CTTNBP2&submit=Quick%0D%1604ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTTNBP2 rs2111204 0.635383 0.5601 0.6314 1 0 0 intronic intronic intronic CTTNBP2 CTTNBP2 ENSG00000077063 Na Na Na Na Na Na Het;A>C 337;14|13 Ref Hom;A>C 356;0|11 N N - 7 117824239 117824239 G C snp UTR5 -39G>C LSM8 Lsm8 rs2896242 0.815895 0.7794 0.7850 1 0 0 UTR5 UTR5 UTR5 LSM8(NM_016200:c.-39G>C) NAA38(uc003vjg.3:c.-39G>C) ENSG00000128534(ENST00000249299:c.-39G>C,ENST00000424702:c.-39G>C,ENST00000422760:c.-1501G>C,ENST00000411938:c.-39G>C) Na Na Na Na Na Na Het;G>C 224;10|9 Het;G>C 188;8|9 Hom;G>C 432;0|17 N N - 7 117825549 117825549 T G snp UTR5 -191T>G LSM8 Lsm8 rs9655829 0.743411 0 0 1 0 0 intronic intronic UTR5 LSM8 NAA38 ENSG00000128534(ENST00000422760:c.-191T>G) Na Na Na Na Na Na Het;T>G 206;7|8 Het;T>G 67;2|3 Hom;T>G 126;0|5 N N - 7 117825681 117825681 A G snp UTR5 -59A>G LSM8 Lsm8 rs45604739 0.373403 0.4283 0.5175 1 0 0 intronic intronic UTR5 LSM8 NAA38 ENSG00000128534(ENST00000422760:c.-59A>G) Na Na Na Na Na Na Het;A>G 1740;95|77 Het;A>G 1217;66|61 Hom;A>G 3814;0|142 N N - 7 117825834 117825834 A G snp intronic LSM8 Lsm8 rs2041527 0.666334 0 0 1 0 0 intronic intronic intronic LSM8 NAA38 ENSG00000128534 Na Na Na Na Na Na Het;A>G 833;58|32 Het;A>G 606;28|28 Hom;A>G 1813;0|63 N N - 7 117832138 117832138 G A snp UTR3 *82G>A LSM8 Lsm8 rs1061731 0.754593 0 0 1 0 0 UTR3 UTR3 UTR3 LSM8(NM_016200:c.*82G>A) NAA38(uc003vjg.3:c.*82G>A) ENSG00000128534(ENST00000249299:c.*82G>A,ENST00000424702:c.*3675G>A,ENST00000422760:c.*82G>A) Na Na Na Na Na Na Het;G>A 175;14|11 Het;G>A 302;17|13 Hom;G>A 709;0|21 N N - 7 118032227 118032227 G A snp intergenic ANKRD7 Ankrd7 ENSG00000106013 ankyrin repeat domain 7 chr7:117854727-117882785 Coronary Artery Disease; CD40 Ligand; Peroxidase; Abdominal Fat; Echocardiography; Body Weights and Measures; Mental Competency; Central Nervous System; Waist Circumference; Hemoglobins; Lipoproteins, VLDL; Body Mass Index; Forced Expiratory Volume; Respiratory Function Tests; Blood Flow Velocity; Pancreatic Neoplasms; Albuminuria; Body Fat Distribution; Cholesterol, HDL; Hypertrophy, Left Ventricular Male mice homozygous for a null allele exhibit normal fecundity. GO:0008584;male gonad development;TAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD7 https://www.uniprot.org/uniprot/Q92527 https://www.ncbi.nlm.nih.gov/omim/?term=610731 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD7&submit=Quick%0D%3437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD7 rs6466654 0.686901 0 0 1 0 0 intergenic intergenic intergenic ANKRD7(dist=149443),KCND2(dist=1881495) ANKRD7(dist=149443),KCND2(dist=1881495) ENSG00000106013(dist=149442),ENSG00000222226(dist=70326) Na Na Na Na Na Na Het;G>A 224;2|10 Het;G>A 92;11|5 Hom;G>A 303;0|11 N N - 7 118079738 118079738 C T snp intergenic ANKRD7 Ankrd7 ENSG00000106013 ankyrin repeat domain 7 chr7:117854727-117882785 Coronary Artery Disease; CD40 Ligand; Peroxidase; Abdominal Fat; Echocardiography; Body Weights and Measures; Mental Competency; Central Nervous System; Waist Circumference; Hemoglobins; Lipoproteins, VLDL; Body Mass Index; Forced Expiratory Volume; Respiratory Function Tests; Blood Flow Velocity; Pancreatic Neoplasms; Albuminuria; Body Fat Distribution; Cholesterol, HDL; Hypertrophy, Left Ventricular Male mice homozygous for a null allele exhibit normal fecundity. GO:0008584;male gonad development;TAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD7 https://www.uniprot.org/uniprot/Q92527 https://www.ncbi.nlm.nih.gov/omim/?term=610731 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD7&submit=Quick%0D%3437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD7 rs4730871 0.764177 0 0 1 0 0 intergenic intergenic intergenic ANKRD7(dist=196954),KCND2(dist=1833984) ANKRD7(dist=196954),KCND2(dist=1833984) ENSG00000106013(dist=196953),ENSG00000222226(dist=22815) Na Na Na Na Na Na Het;C>T 291;1|10 Het;C>T 185;9|7 Hom;C>T 852;0|30 N N - 7 118279880 118279880 T G snp intergenic ANKRD7 Ankrd7 ENSG00000106013 ankyrin repeat domain 7 chr7:117854727-117882785 Coronary Artery Disease; CD40 Ligand; Peroxidase; Abdominal Fat; Echocardiography; Body Weights and Measures; Mental Competency; Central Nervous System; Waist Circumference; Hemoglobins; Lipoproteins, VLDL; Body Mass Index; Forced Expiratory Volume; Respiratory Function Tests; Blood Flow Velocity; Pancreatic Neoplasms; Albuminuria; Body Fat Distribution; Cholesterol, HDL; Hypertrophy, Left Ventricular Male mice homozygous for a null allele exhibit normal fecundity. GO:0008584;male gonad development;TAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD7 https://www.uniprot.org/uniprot/Q92527 https://www.ncbi.nlm.nih.gov/omim/?term=610731 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD7&submit=Quick%0D%3437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD7 rs62470086 0.288339 0 0 1 0 0 intergenic intergenic intergenic ANKRD7(dist=397096),KCND2(dist=1633842) ANKRD7(dist=397096),KCND2(dist=1633842) ENSG00000222226(dist=177232),ENSG00000229982(dist=240277) Na Na Na Na Na Na Het;T>G 383;6|11 Ref Hom;T>G 117;0|4 N N - 7 118280110 118280110 C G snp intergenic ANKRD7 Ankrd7 ENSG00000106013 ankyrin repeat domain 7 chr7:117854727-117882785 Coronary Artery Disease; CD40 Ligand; Peroxidase; Abdominal Fat; Echocardiography; Body Weights and Measures; Mental Competency; Central Nervous System; Waist Circumference; Hemoglobins; Lipoproteins, VLDL; Body Mass Index; Forced Expiratory Volume; Respiratory Function Tests; Blood Flow Velocity; Pancreatic Neoplasms; Albuminuria; Body Fat Distribution; Cholesterol, HDL; Hypertrophy, Left Ventricular Male mice homozygous for a null allele exhibit normal fecundity. GO:0008584;male gonad development;TAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD7 https://www.uniprot.org/uniprot/Q92527 https://www.ncbi.nlm.nih.gov/omim/?term=610731 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD7&submit=Quick%0D%3437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD7 rs62470087 0.290735 0 0 1 0 0 intergenic intergenic intergenic ANKRD7(dist=397326),KCND2(dist=1633612) ANKRD7(dist=397326),KCND2(dist=1633612) ENSG00000222226(dist=177462),ENSG00000229982(dist=240047) Na Na Na Na Na Na Het;C>G 868;42|45 Ref Hom;C>G 1505;0|56 N N - 7 118379936 118379936 T C snp intergenic ANKRD7 Ankrd7 ENSG00000106013 ankyrin repeat domain 7 chr7:117854727-117882785 Coronary Artery Disease; CD40 Ligand; Peroxidase; Abdominal Fat; Echocardiography; Body Weights and Measures; Mental Competency; Central Nervous System; Waist Circumference; Hemoglobins; Lipoproteins, VLDL; Body Mass Index; Forced Expiratory Volume; Respiratory Function Tests; Blood Flow Velocity; Pancreatic Neoplasms; Albuminuria; Body Fat Distribution; Cholesterol, HDL; Hypertrophy, Left Ventricular Male mice homozygous for a null allele exhibit normal fecundity. GO:0008584;male gonad development;TAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD7 https://www.uniprot.org/uniprot/Q92527 https://www.ncbi.nlm.nih.gov/omim/?term=610731 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD7&submit=Quick%0D%3437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD7 rs2590631 0.313299 0 0 1 0 0 intergenic intergenic intergenic ANKRD7(dist=497152),KCND2(dist=1533786) ANKRD7(dist=497152),KCND2(dist=1533786) ENSG00000222226(dist=277288),ENSG00000229982(dist=140221) Na Na Na Na Na Na Het;T>C 344;11|15 Het;T>C 325;15|14 Hom;T>C 572;0|22 N N - 7 118380088 118380088 G T snp intergenic ANKRD7 Ankrd7 ENSG00000106013 ankyrin repeat domain 7 chr7:117854727-117882785 Coronary Artery Disease; CD40 Ligand; Peroxidase; Abdominal Fat; Echocardiography; Body Weights and Measures; Mental Competency; Central Nervous System; Waist Circumference; Hemoglobins; Lipoproteins, VLDL; Body Mass Index; Forced Expiratory Volume; Respiratory Function Tests; Blood Flow Velocity; Pancreatic Neoplasms; Albuminuria; Body Fat Distribution; Cholesterol, HDL; Hypertrophy, Left Ventricular Male mice homozygous for a null allele exhibit normal fecundity. GO:0008584;male gonad development;TAS http://www.genecards.org/index.php?path=/Search/keyword/ANKRD7 https://www.uniprot.org/uniprot/Q92527 https://www.ncbi.nlm.nih.gov/omim/?term=610731 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD7&submit=Quick%0D%3437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD7 rs2590633 0.313299 0 0 1 0 0 intergenic intergenic intergenic ANKRD7(dist=497304),KCND2(dist=1533634) ANKRD7(dist=497304),KCND2(dist=1533634) ENSG00000222226(dist=277440),ENSG00000229982(dist=140069) Na Na Na Na Na Na Het;G>T 523;45|26 Het;G>T 1075;59|53 Hom;G>T 3330;2|131 N N - 7 119440957 119440957 A G snp ncRNA_intronic LINC02476 rs3779115 0.463059 0 0 1 0 0 intergenic intergenic ncRNA_intronic ANKRD7(dist=1558173),KCND2(dist=472765) ANKRD7(dist=1558173),KCND2(dist=472765) ENSG00000225546 Na Na Na Na Na Na Het;A>G 249;3|8 Het;A>G 237;9|10 Hom;A>G 388;0|12 N N - 7 120450678 120450680 TCA T indel intronic TSPAN12 Tspan12 ENSG00000106025 tetraspanin 12 chr7:120427376-120498456 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] Autism Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0001525;angiogenesis;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0010842;retina layer formation;ISS|GO:0045765;regulation of angiogenesis;ISS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN12 https://www.uniprot.org/uniprot/O95859 https://hpo.jax.org/app/browse/search?q=TSPAN12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613138 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN12&submit=Quick%0D%3439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN12 Na 0 0 0 1 0 0 intronic intronic intronic TSPAN12 TSPAN12 ENSG00000106025 Na Na Na Na Na Na Het;-CA 464;9|16 Ref Hom;-CA 886;3|31 N N - 7 120497450 120497450 A G snp intronic TSPAN12 Tspan12 ENSG00000106025 tetraspanin 12 chr7:120427376-120498456 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] Autism Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0001525;angiogenesis;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0010842;retina layer formation;ISS|GO:0045765;regulation of angiogenesis;ISS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN12 https://www.uniprot.org/uniprot/O95859 https://hpo.jax.org/app/browse/search?q=TSPAN12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613138 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN12&submit=Quick%0D%3439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN12 rs3814460 0.41853 0 0 1 0 0 intronic intronic intronic TSPAN12 TSPAN12 ENSG00000106025 Na Na Na Na Na Na Het;A>G 206;6|6 Ref Hom;A>G 351;0|9 N N - 7 120497451 120497451 G A snp intronic TSPAN12 Tspan12 ENSG00000106025 tetraspanin 12 chr7:120427376-120498456 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] Autism Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0001525;angiogenesis;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0010842;retina layer formation;ISS|GO:0045765;regulation of angiogenesis;ISS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN12 https://www.uniprot.org/uniprot/O95859 https://hpo.jax.org/app/browse/search?q=TSPAN12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613138 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN12&submit=Quick%0D%3439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN12 rs3814459 0.129992 0 0 1 0 0 intronic intronic intronic TSPAN12 TSPAN12 ENSG00000106025 Na Na Na Na Na Na Het;G>A 206;6|6 Ref Hom;G>A 351;0|9 N N - 7 120540698 120540698 G C snp intergenic TSPAN12 Tspan12 ENSG00000106025 tetraspanin 12 chr7:120427376-120498456 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] Autism Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0001525;angiogenesis;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0010842;retina layer formation;ISS|GO:0045765;regulation of angiogenesis;ISS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN12 https://www.uniprot.org/uniprot/O95859 https://hpo.jax.org/app/browse/search?q=TSPAN12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613138 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN12&submit=Quick%0D%3439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN12 rs7780247 0.127796 0 0 1 0 0 intergenic intergenic intergenic TSPAN12(dist=42521),ING3(dist=50119) TSPAN12(dist=42521),ING3(dist=50119) ENSG00000106025(dist=42242),ENSG00000071243(dist=50105) Na Na Na Na Na Na Het;G>C 172;17|10 Ref Hom;G>C 249;0|9 N N - 7 120540754 120540754 C G snp intergenic TSPAN12 Tspan12 ENSG00000106025 tetraspanin 12 chr7:120427376-120498456 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] Autism Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0001525;angiogenesis;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0010842;retina layer formation;ISS|GO:0045765;regulation of angiogenesis;ISS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSPAN12 https://www.uniprot.org/uniprot/O95859 https://hpo.jax.org/app/browse/search?q=TSPAN12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613138 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN12&submit=Quick%0D%3439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN12 rs7780130 0.127796 0 0 1 0 0 intergenic intergenic intergenic TSPAN12(dist=42577),ING3(dist=50063) TSPAN12(dist=42577),ING3(dist=50063) ENSG00000106025(dist=42298),ENSG00000071243(dist=50049) Na Na Na Na Na Na Het;C>G 173;17|10 Ref Hom;C>G 395;0|15 N N - 7 120608216 120608216 C T snp intronic ING3 Ing3 ENSG00000071243 inhibitor of growth family member 3 chr7:120590803-120617270 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008] Sodium; monocyte chemoattractant protein 1 (66-77); Autism; Sleep HATs acetylate histones GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA GO:0000812;Swr1 complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032777;Piccolo NuA4 histone acetyltransferase complex;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0004402;histone acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ING3 https://www.uniprot.org/uniprot/Q9NXR8 https://www.ncbi.nlm.nih.gov/omim/?term=607493 http://www.informatics.jax.org/searchtool/Search.do?query=ING3&submit=Quick%0D%1394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ING3 rs79589210 0.183706 0 0 1 0 0 intronic intronic intronic ING3 ING3 ENSG00000071243 Na Na Na Na Na Na Het;C>T 444;10|14 Ref Hom;C>T 541;0|18 N N - 7 120655676 120655676 G T snp intronic CPED1 Cped1 ENSG00000106034 cadherin like and PC-esterase domain containing 1 chr7:120628731-120937498 GO:0005783;endoplasmic reticulum;IDA http://www.genecards.org/index.php?path=/Search/keyword/CPED1 https://www.uniprot.org/uniprot/A4D0V7 http://www.informatics.jax.org/searchtool/Search.do?query=CPED1&submit=Quick%0D%3442ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPED1 rs4730984 0.274561 0.2145 0.2739 1 0 0 intronic intronic intronic CPED1 CPED1 ENSG00000106034 Na Na Na Na Na Na Het;G>T 381;11|13 Ref Hom;G>T 926;0|29 N N - 7 120740225 120740225 C G snp intronic CPED1 Cped1 ENSG00000106034 cadherin like and PC-esterase domain containing 1 chr7:120628731-120937498 GO:0005783;endoplasmic reticulum;IDA http://www.genecards.org/index.php?path=/Search/keyword/CPED1 https://www.uniprot.org/uniprot/A4D0V7 http://www.informatics.jax.org/searchtool/Search.do?query=CPED1&submit=Quick%0D%3442ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPED1 rs1917112 0.492612 0 0 1 0 0 intronic intronic intronic CPED1 CPED1 ENSG00000106034 Na Na Na Na Na Na Het;C>G 192;8|8 Het;C>G 92;12|5 Hom;C>G 736;0|23 N N - 7 128445260 128445261 AG A indel intronic CCDC136 Ccdc136 ENSG00000128596 coiled-coil domain containing 136 chr7:128430811-128462186 Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit male infertility, globozoospermia, asthenozoospermia, and decreased in vitro fertilization frequency. GO:0001675;acrosome assembly;ISS|GO:0007283;spermatogenesis;IEA|GO:0007338;single fertilization;IEA|GO:0030154;cell differentiation;IEA GO:0002080;acrosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC136 https://www.uniprot.org/uniprot/Q96JN2 https://www.ncbi.nlm.nih.gov/omim/?term=611902 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC136&submit=Quick%0D%6158ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC136 rs143410516 0.0247604 0 0 1 0 0 intronic intronic intronic CCDC136 CCDC136 ENSG00000128596 Na Na Na Na Na Na Het;-G 57;6|3 Het;-G 98;5|4 Hom;-G 286;0|8 N N - 7 128520291 128520291 A T snp ncRNA_intronic KCP Kcp ENSG00000135253 kielin/chordin-like protein chr7:128502505-128550773 Lupus Erythematosus, Systemic; Colitis, Ulcerative Homozygous null mice display increased sensitivity to renal injury. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCP https://www.uniprot.org/uniprot/A0A087WT73 https://www.ncbi.nlm.nih.gov/omim/?term=609344 http://www.informatics.jax.org/searchtool/Search.do?query=KCP&submit=Quick%0D%7111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCP rs7786074 0.467053 0 0 1 0 0 intronic intronic ncRNA_intronic KCP KCP ENSG00000135253 Na Na Na Na Na Na Het;A>T 96;9|4 Het;A>T 155;2|6 Hom;A>T 302;0|9 N N - 7 128520757 128520757 G A snp ncRNA_exonic KCP Kcp ENSG00000135253 kielin/chordin-like protein chr7:128502505-128550773 Lupus Erythematosus, Systemic; Colitis, Ulcerative Homozygous null mice display increased sensitivity to renal injury. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCP https://www.uniprot.org/uniprot/A0A087WT73 https://www.ncbi.nlm.nih.gov/omim/?term=609344 http://www.informatics.jax.org/searchtool/Search.do?query=KCP&submit=Quick%0D%7111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCP rs67147448 0.328075 0 0 1.00 3 3 intronic intronic ncRNA_exonic KCP KCP ENSG00000135253 Na Na Na Na Na Na Het;G>A 302;6|9 Het;G>A 63;8|3 Hom;G>A 350;0|11 N N - 7 128527093 128527093 T G snp ncRNA_intronic KCP Kcp ENSG00000135253 kielin/chordin-like protein chr7:128502505-128550773 Lupus Erythematosus, Systemic; Colitis, Ulcerative Homozygous null mice display increased sensitivity to renal injury. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA GO:0005615;extracellular space;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCP https://www.uniprot.org/uniprot/A0A087WT73 https://www.ncbi.nlm.nih.gov/omim/?term=609344 http://www.informatics.jax.org/searchtool/Search.do?query=KCP&submit=Quick%0D%7111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCP rs11982744 0.434505 0 0 1 0 0 intronic intronic ncRNA_intronic KCP KCP ENSG00000135253 Na Na Na Na Na Na Het;T>G 1135;40|41 Het;T>G 799;38|28 Hom;T>G 1753;1|55 N N - 7 128587351 128587381 CACTCTGCAGCCGCCCACTCTGCGGCCGCCT C indel nonframeshift substitution 501_531C IRF5 Irf5 ENSG00000128604 interferon regulatory factor 5 chr7:128577666-128590089 This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Mar 2010] hypertension; lupus erythematosus; Arthritis, Rheumatoid; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Scleroderma, Systemic; diabetes, type 1; Lupus Erythematosus, Systemic; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; systemic lupus erythematosus; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Arthritis, Rheumatoid|Rheumatoid Arthritis; Psoriasis; Scleroderma, Systemic|Systemic Scleroderma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sjogren's Syndrome; Wegener's granulomatosis- reduced risk; Lupus Nephritis|Nephritis SLE; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; rheumatoid arthritis; haemophilia A; null; Fibrosis|Pulmonary Fibrosis|Scleroderma, Systemic; Type 2 Diabetes| edema | rosiglitazone; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Acute Coronary Syndrome|; Sclerosis; Pulmonary Fibrosis|Scleroderma, Systemic; respiratory syncytial virus bronchiolitis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; multiple sclerosis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid|; Dengue Hemorrhagic Fever; Behcet Syndrome|; Atherosclerosis|Carotid Stenosis|Myocardial Infarction; Antiphospholipid Syndrome|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Liver Cirrhosis, Biliary; Autoimmune Diseases|Endometriosis Homozygous null mice exhibit resistance to lethal shock with a marked decrease in the serum levels of proinflammatory cytokines, but normal B cell development. Mice homozygous for another allele are viable and fertile. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032494;response to peptidoglycan;IDA|GO:0032495;response to muramyl dipeptide;IDA|GO:0032727;positive regulation of interferon-alpha production;IC|GO:0032728;positive regulation of interferon-beta production;IC|GO:0032735;positive regulation of interleukin-12 production;IC|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000975;regulatory region DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/IRF5 https://www.uniprot.org/uniprot/Q13568 https://hpo.jax.org/app/browse/search?q=IRF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607218 http://www.informatics.jax.org/searchtool/Search.do?query=IRF5&submit=Quick%0D%6160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF5 rs199508964 0.484824 0.4909 0.4737 1 0 0 exonic exonic exonic IRF5 IRF5 ENSG00000128604 nonframeshift substitution nonframeshift substitution unknown IRF5:NM_001098627:exon6:c.501_531C,IRF5:NM_001098630:exon6:c.501_531C,IRF5:NM_001098629:exon6:c.549_579C,IRF5:NM_032643:exon6:c.501_531C, IRF5:uc010llr.1:exon5:c.467_497C,IRF5:uc003voh.3:exon6:c.501_531C,IRF5:uc003voj.4:exon6:c.501_531C,IRF5:uc010lls.1:exon5:c.467_497C,IRF5:uc003vog.3:exon6:c.549_579C,IRF5:uc003voi.3:exon6:c.501_531C,IRF5:uc010llu.1:exon5:c.467_497C,IRF5:uc010llw.1:exon4:c.467_497C, UNKNOWN Het;-ACTCTGCAGCCGCCCACTCTGCGGCCGCCT 1086;38|41 Het;-ACTCTGCAGCCGCCCACTCTGCGGCCGCCT 1232;22|35 Hom;-ACTCTGCAGCCGCCCACTCTGCGGCCGCCT 2159;0|52 N N - 7 128589488 128589488 G A snp UTR3 *616G>A IRF5 Irf5 ENSG00000128604 interferon regulatory factor 5 chr7:128577666-128590089 This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Mar 2010] hypertension; lupus erythematosus; Arthritis, Rheumatoid; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Scleroderma, Systemic; diabetes, type 1; Lupus Erythematosus, Systemic; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; systemic lupus erythematosus; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Arthritis, Rheumatoid|Rheumatoid Arthritis; Psoriasis; Scleroderma, Systemic|Systemic Scleroderma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Sjogren's Syndrome; Wegener's granulomatosis- reduced risk; Lupus Nephritis|Nephritis SLE; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; rheumatoid arthritis; haemophilia A; null; Fibrosis|Pulmonary Fibrosis|Scleroderma, Systemic; Type 2 Diabetes| edema | rosiglitazone; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Acute Coronary Syndrome|; Sclerosis; Pulmonary Fibrosis|Scleroderma, Systemic; respiratory syncytial virus bronchiolitis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; multiple sclerosis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid|; Dengue Hemorrhagic Fever; Behcet Syndrome|; Atherosclerosis|Carotid Stenosis|Myocardial Infarction; Antiphospholipid Syndrome|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Arthritis, Rheumatoid|Lupus Erythematosus, Systemic; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Liver Cirrhosis, Biliary; Autoimmune Diseases|Endometriosis Homozygous null mice exhibit resistance to lethal shock with a marked decrease in the serum levels of proinflammatory cytokines, but normal B cell development. Mice homozygous for another allele are viable and fertile. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032494;response to peptidoglycan;IDA|GO:0032495;response to muramyl dipeptide;IDA|GO:0032727;positive regulation of interferon-alpha production;IC|GO:0032728;positive regulation of interferon-beta production;IC|GO:0032735;positive regulation of interleukin-12 production;IC|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000975;regulatory region DNA binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IC|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/IRF5 https://www.uniprot.org/uniprot/Q13568 https://hpo.jax.org/app/browse/search?q=IRF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607218 http://www.informatics.jax.org/searchtool/Search.do?query=IRF5&submit=Quick%0D%6160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF5 rs11770589 0.453474 0 0 1 0 0 UTR3 UTR3 UTR3 IRF5(NM_001098630:c.*616G>A,NM_001098629:c.*616G>A,NM_001242452:c.*616G>A,NM_032643:c.*616G>A,NM_001098627:c.*616G>A) IRF5(uc003voh.3:c.*616G>A,uc003vog.3:c.*616G>A,uc010llt.3:c.*616G>A,uc003voi.3:c.*616G>A,uc003voj.4:c.*616G>A) ENSG00000128604(ENST00000402030:c.*616G>A,ENST00000249375:c.*616G>A) Na Na Na Na Na Na Het;G>A 315;19|16 Het;G>A 302;30|17 Hom;G>A 1182;0|46 N N - 7 128595149 128595149 T C snp UTR3 *322A>G TNPO3 Tnpo3 ENSG00000064419 transportin 3 chr7:128594948-128695198 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Tobacco Use Disorder; systemic lupus erythematosus; Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Liver Cirrhosis, Biliary; Lupus Erythematosus, Systemic; Scleroderma, Systemic; Sclerosis Mice homozygous for an ENU-induced allele exhibit embryonic lethality. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035048;splicing factor protein import into nucleus;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0031965;nuclear membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IBA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNPO3 https://www.uniprot.org/uniprot/Q9Y5L0 https://hpo.jax.org/app/browse/search?q=TNPO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610032 http://www.informatics.jax.org/searchtool/Search.do?query=TNPO3&submit=Quick%0D%1130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNPO3 rs3847098 0.267772 0 0 1 0 0 UTR3 UTR3 UTR3 TNPO3(NM_001191028:c.*322A>G,NM_012470:c.*322A>G) TNPO3(uc010llx.2:c.*272A>G,uc003vom.2:c.*322A>G,uc003vol.2:c.*322A>G,uc010llz.2:c.*322A>G,uc010lly.2:c.*322A>G) ENSG00000064419(ENST00000393245:c.*322A>G,ENST00000471234:c.*322A>G,ENST00000482320:c.*322A>G,ENST00000265388:c.*322A>G) Na Na Na Na Na Na Het;T>C 2497;91|101 Het;T>C 1885;88|82 Hom;T>C 4472;0|155 N N - 7 128607384 128607384 G A snp synonymous SNV C2469T A823A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TNPO3 Tnpo3 ENSG00000064419 transportin 3 chr7:128594948-128695198 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Tobacco Use Disorder; systemic lupus erythematosus; Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Liver Cirrhosis, Biliary; Lupus Erythematosus, Systemic; Scleroderma, Systemic; Sclerosis Mice homozygous for an ENU-induced allele exhibit embryonic lethality. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035048;splicing factor protein import into nucleus;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0031965;nuclear membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IBA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNPO3 https://www.uniprot.org/uniprot/Q9Y5L0 https://hpo.jax.org/app/browse/search?q=TNPO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610032 http://www.informatics.jax.org/searchtool/Search.do?query=TNPO3&submit=Quick%0D%1130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNPO3 rs8043 0.476837 0.5106 0.4779 1 0 0 exonic exonic exonic TNPO3 TNPO3 ENSG00000064419 synonymous SNV synonymous SNV unknown TNPO3:NM_001191028:exon20:c.C2469T:p.A823A,TNPO3:NM_012470:exon21:c.C2661T:p.A887A, TNPO3:uc010lly.2:exon21:c.C2763T:p.A921A,TNPO3:uc003vol.2:exon21:c.C2661T:p.A887A,TNPO3:uc010llz.2:exon20:c.C2469T:p.A823A,TNPO3:uc003vom.2:exon22:c.C2463T:p.A821A,TNPO3:uc010llx.2:exon9:c.C894T:p.A298A, UNKNOWN Het;G>A 1175;54|56 Het;G>A 976;66|47 Hom;G>A 2994;0|111 N N - 7 128641226 128641226 G C snp synonymous SNV C759G L253L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TNPO3 Tnpo3 ENSG00000064419 transportin 3 chr7:128594948-128695198 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Tobacco Use Disorder; systemic lupus erythematosus; Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Liver Cirrhosis, Biliary; Lupus Erythematosus, Systemic; Scleroderma, Systemic; Sclerosis Mice homozygous for an ENU-induced allele exhibit embryonic lethality. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035048;splicing factor protein import into nucleus;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0031965;nuclear membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IBA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNPO3 https://www.uniprot.org/uniprot/Q9Y5L0 https://hpo.jax.org/app/browse/search?q=TNPO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610032 http://www.informatics.jax.org/searchtool/Search.do?query=TNPO3&submit=Quick%0D%1130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNPO3 rs2305324 0.341853 0.3716 0.4097 1 0 0 exonic exonic exonic TNPO3 TNPO3 ENSG00000064419 synonymous SNV synonymous SNV unknown TNPO3:NM_001191028:exon6:c.C759G:p.L253L,TNPO3:NM_012470:exon6:c.C759G:p.L253L, TNPO3:uc010lly.2:exon6:c.C759G:p.L253L,TNPO3:uc003vol.2:exon6:c.C759G:p.L253L,TNPO3:uc010llz.2:exon6:c.C759G:p.L253L,TNPO3:uc003vom.2:exon7:c.C561G:p.L187L, UNKNOWN Het;G>C 2051;92|91 Het;G>C 2182;101|94 Hom;G>C 5174;0|189 N N - 7 128645292 128645292 A C snp intronic TNPO3 Tnpo3 ENSG00000064419 transportin 3 chr7:128594948-128695198 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Tobacco Use Disorder; systemic lupus erythematosus; Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Liver Cirrhosis, Biliary; Lupus Erythematosus, Systemic; Scleroderma, Systemic; Sclerosis Mice homozygous for an ENU-induced allele exhibit embryonic lethality. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035048;splicing factor protein import into nucleus;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0031965;nuclear membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IBA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNPO3 https://www.uniprot.org/uniprot/Q9Y5L0 https://hpo.jax.org/app/browse/search?q=TNPO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610032 http://www.informatics.jax.org/searchtool/Search.do?query=TNPO3&submit=Quick%0D%1130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNPO3 rs11768572 0.267572 0 0 1 0 0 intronic intronic intronic TNPO3 TNPO3 ENSG00000064419 Na Na Na Na Na Na Het;A>C 281;11|9 Het;A>C 135;9|5 Hom;A>C 656;0|20 N N - 7 128654840 128654840 T A snp intronic TNPO3 Tnpo3 ENSG00000064419 transportin 3 chr7:128594948-128695198 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Tobacco Use Disorder; systemic lupus erythematosus; Arthritis, Rheumatoid; HIV Infections|[X]Human immunodeficiency virus disease; Liver Cirrhosis, Biliary; Lupus Erythematosus, Systemic; Scleroderma, Systemic; Sclerosis Mice homozygous for an ENU-induced allele exhibit embryonic lethality. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035048;splicing factor protein import into nucleus;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0031965;nuclear membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;IBA|GO:0008565;protein transporter activity;IBA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNPO3 https://www.uniprot.org/uniprot/Q9Y5L0 https://hpo.jax.org/app/browse/search?q=TNPO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610032 http://www.informatics.jax.org/searchtool/Search.do?query=TNPO3&submit=Quick%0D%1130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNPO3 rs2305325 0.348642 0 0 1 0 0 intronic intronic intronic TNPO3 TNPO3 ENSG00000064419 Na Na Na Na Na Na Het;T>A 45;1|3 Ref Hom;T>A 77;0|3 N N - 7 13578276 13578281 AAAGAT A indel ncRNA_intronic AC011287.1 rs140603539 0.526558 0 0 1 0 0 intergenic intergenic ncRNA_intronic ARL4A(dist=847718),ETV1(dist=352575) ARL4A(dist=847718),AK055368(dist=352572) ENSG00000229618 Na Na Na Na Na Na Het;-AAGAT 32;5|2 Ref Hom;-AAGAT 188;0|5 N N - 7 13578340 13578340 A C snp ncRNA_intronic AC011287.1 rs9639158 0.535343 0 0 1 0 0 intergenic intergenic ncRNA_intronic ARL4A(dist=847782),ETV1(dist=352516) ARL4A(dist=847782),AK055368(dist=352513) ENSG00000229618 Na Na Na Na Na Na Het;A>C 240;14|9 Het;A>C 185;4|6 Hom;A>C 663;0|17 N N - 7 13578609 13578609 A T snp ncRNA_intronic AC011287.1 rs10238802 0.558706 0 0 1 0 0 intergenic intergenic ncRNA_intronic ARL4A(dist=848051),ETV1(dist=352247) ARL4A(dist=848051),AK055368(dist=352244) ENSG00000229618 Na Na Na Na Na Na Het;A>T 1004;40|42 Het;A>T 761;45|37 Hom;A>T 2903;2|107 N N - 7 13678476 13678476 G C snp ncRNA_intronic AC011287.1 rs2156012 0.401957 0 0 1 0 0 intergenic intergenic ncRNA_intronic ARL4A(dist=947918),ETV1(dist=252380) ARL4A(dist=947918),AK055368(dist=252377) ENSG00000229618 Na Na Na Na Na Na Het;G>C 131;1|6 Ref Hom;G>C 345;0|14 N N - 7 1371829 1371829 A G snp intergenic UNCX Uncx ENSG00000164853 UNC homeobox chr7:1272543-1276954 Homozygous null mutants exhibit severe skeletal defects, including absence of pedicles, transverse processes and proximal ribs. Mutants die around birth from respiratory failure. GO:0001502;cartilage condensation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007399;nervous system development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0021516;dorsal spinal cord development;IEA|GO:0021889;olfactory bulb interneuron differentiation;IEA|GO:0030154;cell differentiation;IEA|GO:0035726;common myeloid progenitor cell proliferation;IEA|GO:0045595;regulation of cell differentiation;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UNCX http://www.informatics.jax.org/searchtool/Search.do?query=UNCX&submit=Quick%0D%11405ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNCX rs940417 0.538538 0 0 1 0 0 intergenic intergenic intergenic UNCX(dist=95216),MICALL2(dist=102166) UNCX(dist=95216),MICALL2(dist=102166) ENSG00000233082(dist=62926),NONE(dist=NONE) Na Na Na Na Na Na Het;A>G 122;12|7 Het;A>G 152;4|8 Hom;A>G 182;0|8 N N - 7 137776411 137776411 C CA indel intronic AKR1D1 Akr1d1 ENSG00000122787 aldo-keto reductase family 1 member D1 chr7:137687070-137802732 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] Tobacco Use Disorder; Forced Vital Capacity Synthesis of bile acids and bile salts via 27-hydroxycholesterol GO:0006629;lipid metabolic process;IEA|GO:0006699;bile acid biosynthetic process;TAS|GO:0006707;cholesterol catabolic process;IDA|GO:0007586;digestion;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008207;C21-steroid hormone metabolic process;IDA|GO:0008209;androgen metabolic process;IDA|GO:0016042;lipid catabolic process;IEA|GO:0030573;bile acid catabolic process;IEA|GO:0055114;oxidation-reduction process;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0005496;steroid binding;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0047787;delta4-3-oxosteroid 5beta-reductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AKR1D1 https://www.uniprot.org/uniprot/P51857 https://hpo.jax.org/app/browse/search?q=AKR1D1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604741 http://www.informatics.jax.org/searchtool/Search.do?query=AKR1D1&submit=Quick%0D%5457ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR1D1 rs202194493 0 0 0 1 0 0 intronic intronic intronic AKR1D1 AKR1D1 ENSG00000122787 Na Na Na Na Na Na Het;+A 234;2|12 Het;+A 171;2|10 Hom;+A 207;0|10 N N - 7 13931182 13931182 G A snp ncRNA_exonic AK055368 rs9785000 0.801318 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 ETV1(NM_001163151:c.*4309C>T,NM_001163150:c.*4309C>T,NM_001163147:c.*4309C>T,NM_004956:c.*4309C>T,NM_001163148:c.*4309C>T,NM_001163149:c.*4309C>T,NM_001163152:c.*4309C>T) AK055368 ENSG00000006468(ENST00000430479:c.*4309C>T,ENST00000399357:c.*4309C>T,ENST00000420159:c.*4309C>T,ENST00000343495:c.*4309C>T,ENST00000242066:c.*4309C>T) Na Na Na Na Na Na Het;G>A 689;16|26 Het;G>A 1014;21|40 Hom;G>A 2121;0|78 N N - 7 13931982 13931982 T A snp ncRNA_exonic AK055368 rs4721286 0.815296 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 ETV1(NM_001163151:c.*3509A>T,NM_001163150:c.*3509A>T,NM_001163147:c.*3509A>T,NM_004956:c.*3509A>T,NM_001163148:c.*3509A>T,NM_001163149:c.*3509A>T,NM_001163152:c.*3509A>T) AK055368 ENSG00000006468(ENST00000430479:c.*3509A>T,ENST00000399357:c.*3509A>T,ENST00000420159:c.*3509A>T,ENST00000343495:c.*3509A>T,ENST00000242066:c.*3509A>T) Na Na Na Na Na Na Het;T>A 1409;49|57 Het;T>A 2146;88|95 Hom;T>A 4688;0|169 N N - 7 13932601 13932601 C T snp ncRNA_exonic AK055368 rs28557435 0.634585 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 ETV1(NM_001163151:c.*2890G>A,NM_001163150:c.*2890G>A,NM_001163147:c.*2890G>A,NM_004956:c.*2890G>A,NM_001163148:c.*2890G>A,NM_001163149:c.*2890G>A,NM_001163152:c.*2890G>A) AK055368 ENSG00000006468(ENST00000430479:c.*2890G>A,ENST00000399357:c.*2890G>A,ENST00000420159:c.*2890G>A,ENST00000343495:c.*2890G>A,ENST00000242066:c.*2890G>A) Na Na Na Na Na Na Het;C>T 639;27|31 Het;C>T 653;53|36 Hom;C>T 2209;0|80 N N - 7 13934358 13934358 A T snp UTR3 *1133T>A ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs3735343 0.263978 0 0 1 0 0 UTR3 UTR3 UTR3 ETV1(NM_001163151:c.*1133T>A,NM_001163150:c.*1133T>A,NM_001163147:c.*1133T>A,NM_004956:c.*1133T>A,NM_001163148:c.*1133T>A,NM_001163149:c.*1133T>A,NM_001163152:c.*1133T>A) ETV1(uc021zzt.1:c.*1133T>A,uc021zzu.1:c.*1133T>A,uc021zzv.1:c.*1133T>A,uc021zzw.1:c.*1540T>A,uc021zzx.1:c.*1540T>A,uc021zzy.1:c.*1540T>A,uc021zzz.1:c.*1133T>A,uc022aaa.1:c.*1133T>A,uc022aab.1:c.*1540T>A,uc003ssw.4:c.*1133T>A,uc022aac.1:c.*1540T>A,uc022aad.1:c.*1540T>A) ENSG00000006468(ENST00000430479:c.*1133T>A,ENST00000399357:c.*1133T>A,ENST00000420159:c.*1133T>A,ENST00000343495:c.*1133T>A,ENST00000242066:c.*1133T>A,ENST00000405192:c.*1133T>A,ENST00000405358:c.*1133T>A,ENST00000403527:c.*1133T>A,ENST00000405218:c.*1133T>A) Na Na Na Na Na Na Het;A>T 1370;64|58 Ref Hom;A>T 4902;2|183 N N - 7 13934688 13934688 A G snp UTR3 *803T>C ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs3735344 0.353035 0 0 1 0 0 UTR3 UTR3 UTR3 ETV1(NM_001163151:c.*803T>C,NM_001163150:c.*803T>C,NM_001163147:c.*803T>C,NM_004956:c.*803T>C,NM_001163148:c.*803T>C,NM_001163149:c.*803T>C,NM_001163152:c.*803T>C) ETV1(uc021zzt.1:c.*803T>C,uc021zzu.1:c.*803T>C,uc021zzv.1:c.*803T>C,uc021zzw.1:c.*1210T>C,uc021zzx.1:c.*1210T>C,uc021zzy.1:c.*1210T>C,uc021zzz.1:c.*803T>C,uc022aaa.1:c.*803T>C,uc022aab.1:c.*1210T>C,uc003ssw.4:c.*803T>C,uc022aac.1:c.*1210T>C,uc022aad.1:c.*1210T>C) ENSG00000006468(ENST00000430479:c.*803T>C,ENST00000399357:c.*803T>C,ENST00000420159:c.*803T>C,ENST00000343495:c.*803T>C,ENST00000242066:c.*803T>C,ENST00000405192:c.*803T>C,ENST00000405358:c.*803T>C,ENST00000403527:c.*803T>C,ENST00000405218:c.*803T>C) Na Na Na Na Na Na Het;A>G 1550;92|71 Ref Hom;A>G 5163;2|184 N N - 7 14017007 14017007 C T snp intronic ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs2066977 0.555511 0.5815 0.4946 1 0 0 intronic intronic intronic ETV1 ETV1 ENSG00000006468 Na Na Na Na Na Na Het;C>T 218;16|7 Het;C>T 471;16|13 Hom;C>T 1527;0|35 N N - 7 14017008 14017008 C G snp intronic ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs2066976 0.555711 0.5804 0.4952 1 0 0 intronic intronic intronic ETV1 ETV1 ENSG00000006468 Na Na Na Na Na Na Het;C>G 218;16|7 Het;C>G 471;18|14 Hom;C>G 1527;0|34 N N - 7 14017126 14017126 T TA indel intronic ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs397736065 0.554912 0.5379 0.4915 1 0 0 intronic intronic intronic ETV1 ETV1 ENSG00000006468 Na Na Na Na Na Na Het;+A 200;10|11 Het;+A 386;10|18 Hom;+A 1100;0|40 N N - 7 14025727 14025727 C T snp intronic ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs3823704 0.563698 0.5528 0.5455 1 0 0 intronic intronic intronic ETV1 ETV1 ENSG00000006468 Na Na Na Na Na Na Het;C>T 90;13|6 Het;C>T 279;28|15 Hom;C>T 1465;0|56 N N - 7 14025766 14025766 T A snp synonymous SNV A36T P12P hydrophobic,neutral hydrophobic,neutral ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs10215655 0.564097 0.5544 0.5744 1 0 0 exonic exonic exonic ETV1 ETV1 ENSG00000006468 synonymous SNV synonymous SNV unknown ETV1:NM_001163150:exon1:c.A36T:p.P12P,ETV1:NM_001163152:exon1:c.A36T:p.P12P,ETV1:NM_001163151:exon1:c.A36T:p.P12P, ETV1:uc021zzu.1:exon1:c.A36T:p.P12P,ETV1:uc021zzx.1:exon1:c.A36T:p.P12P,ETV1:uc021zzv.1:exon1:c.A36T:p.P12P,ETV1:uc021zzw.1:exon1:c.A36T:p.P12P,ETV1:uc021zzy.1:exon1:c.A36T:p.P12P,ETV1:uc021zzt.1:exon1:c.A36T:p.P12P, UNKNOWN Het;T>A 173;19|10 Het;T>A 425;37|24 Hom;T>A 2069;0|79 N N - 7 14026357 14026357 A G snp intronic ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs3213661 0.745607 0.7910 0.7307 1 0 0 intronic intronic intronic ETV1 ETV1 ENSG00000006468 Na Na Na Na Na Na Het;A>G 276;11|14 Het;A>G 458;12|20 Hom;A>G 1222;0|47 N N - 7 14028707 14028708 TA T indel UTR5 -30_-31delinsA ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs140879246 0.516374 0.5384 0.5155 1 0 0 UTR5 UTR5 UTR5 ETV1(NM_001163147:c.-30_-31delinsA,NM_004956:c.-30_-31delinsA,NM_001163148:c.-30_-31delinsA,NM_001163149:c.-30_-31delinsA) ETV1(uc021zzz.1:c.-30_-31delinsA,uc022aaa.1:c.-30_-31delinsA,uc022aab.1:c.-30_-31delinsA,uc003ssw.4:c.-30_-31delinsA,uc022aac.1:c.-30_-31delinsA,uc022aad.1:c.-30_-31delinsA) ENSG00000006468(ENST00000430479:c.-30_-31delinsA,ENST00000343495:c.-30_-31delinsA,ENST00000242066:c.-30_-31delinsA,ENST00000405192:c.-30_-31delinsA,ENST00000405218:c.-30_-31delinsA,ENST00000443137:c.-30_-31delinsA,ENST00000403685:c.-30_-31delinsA,ENST00000421381:c.-30_-31delinsA,ENST00000431887:c.-30_-31delinsA,ENST00000433547:c.-30_-31delinsA) Na Na Na Na Na Na Het;-A 2175;59|70 Het;-A 1381;55|47 Hom;-A 4902;0|135 N N - 7 14028860 14028861 CA C indel intronic ETV1 Etv1 ENSG00000006468 ETS variant 1 chr7:13930853-14031050 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Audiometry, Pure-Tone; Iron; Thyrotropin; prostate cancer Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007411;axon guidance;IEA|GO:0007517;muscle organ development;IEA|GO:0007638;mechanosensory behavior;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048935;peripheral nervous system neuron development;TAS GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ETV1 https://www.uniprot.org/uniprot/P50549 https://www.ncbi.nlm.nih.gov/omim/?term=600541 http://www.informatics.jax.org/searchtool/Search.do?query=ETV1&submit=Quick%0D%402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ETV1 rs11328804 0.434105 0 0 1 0 0 intronic intronic intronic ETV1 ETV1 ENSG00000006468 Na Na Na Na Na Na Het;-A 1148;35|48 Het;-A 816;41|36 Hom;-A 2093;0|71 N N - 7 141788547 141788547 G GTCTA indel intronic MGAM Mgam ENSG00000282607 maltase-glucoamylase chr7:141607613-141806547 This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Alcohol Drinking Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis. GO:0005975;carbohydrate metabolic process;IEA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGAM https://www.ncbi.nlm.nih.gov/omim/?term=154360 http://www.informatics.jax.org/searchtool/Search.do?query=MGAM&submit=Quick%0D%22551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAM Na 0 0 0 1 0 0 intronic intronic intronic MGAM MGAM ENSG00000257335 Na Na Na Na Na Na Het;+TCTA 736;3|20 Het;+TCTA 379;1|10 Hom;+TCTA 733;2|32 N N - 7 142467439 142467439 T A snp upstream PRSS3P1 rs73742419 0.95008 0 0 1 0 0 intergenic ncRNA_intronic upstream PRSS1(dist=6512),PRSS3P2(dist=11318) BV6S4-BJ2S2,TCRVB ENSG00000250591 Na Na Na Na Na Na Het;T>A 122;4|6 Het;T>A 183;4|9 Hom;T>A 232;1|11 N N - 7 148497388 148497388 C T snp intronic CUL1 Cul1 ENSG00000055130 cullin 1 chr7:148395006-148498128 ovarian cancer; Tobacco Use Disorder Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5. Antigen processing: Ubiquitination & Proteasome degradation GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006879;cellular iron ion homeostasis;TAS|GO:0006915;apoptotic process;IEA|GO:0007050;cell cycle arrest;TAS|GO:0008283;cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009887;animal organ morphogenesis;IEA|GO:0010265;SCF complex assembly;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016032;viral process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0016567;protein ubiquitination;IDA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051403;stress-activated MAPK cascade;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0097193;intrinsic apoptotic signaling pathway;TAS GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA|GO:0031461;cullin-RING ubiquitin ligase complex;IDA|GO:1990452;Parkin-FBXW7-Cul1 ubiquitin ligase complex;IPI GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CUL1 https://www.uniprot.org/uniprot/Q13616 https://www.ncbi.nlm.nih.gov/omim/?term=603134 http://www.informatics.jax.org/searchtool/Search.do?query=CUL1&submit=Quick%0D%991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CUL1 rs59400376 0.0551118 0 0 1 0 0 intronic intronic intronic CUL1 CUL1 ENSG00000055130 Na Na Na Na Na Na Het;C>T 99;5|4 Ref Hom;C>T 207;0|6 N N - 7 149544681 149544687 GGTGTGT G indel intronic ZNF862 ENSG00000106479 zinc finger protein 862 chr7:149535456-149564568 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF862 https://www.uniprot.org/uniprot/O60290 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF862&submit=Quick%0D%3506ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF862 Na 0 0 0 1 0 0 intronic intronic intronic ZNF862 ZNF862 ENSG00000106479 Na Na Na Na Na Na Het;-GTGTGT 129;1|4 Ref Hom;-GTGTGT 188;0|5 N N - 7 149578566 149578566 G A snp ncRNA_exonic DQ590227 rs4725316 0.496406 0 0 1 0 0 downstream ncRNA_exonic ncRNA_exonic ATP6V0E2 DQ590227 ENSG00000273293 Na Na Na Na Na Na Het;G>A 41;2|2 Ref Hom;G>A 71;0|4 N N - 7 150027324 150027324 T A snp UTR5 -170T>A ZBED6CL ENSG00000188707 ZBED6 C-terminal like chr7:150026938-150029808 Mice homozygous for a null allele display sex specific increases in body, skeletal muscle, and organ sizes. http://www.genecards.org/index.php?path=/Search/keyword/ZBED6CL https://www.ncbi.nlm.nih.gov/omim/?term=615252 http://www.informatics.jax.org/searchtool/Search.do?query=ZBED6CL&submit=Quick%0D%16089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBED6CL rs3800781 0.248003 0 0 1 0 0 UTR5 UTR5 UTR5 ZBED6CL(NM_138434:c.-170T>A) ZBED6CL(uc003wgy.3:c.-170T>A) ENSG00000188707(ENST00000343855:c.-170T>A) Na Na Na Na Na Na Het;T>A 116;3|5 Ref Hom;T>A 168;0|7 N N - 7 15030168 15030168 C G snp intergenic DGKB Dgkb ENSG00000136267 diacylglycerol kinase beta chr7:14184674-15014402 Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes; Bone Density; Myocardial Infarction; Echocardiography; Hemoglobins; Forced Expiratory Volume; Tobacco Use Disorder; glucose-stimulated beta cell function; response to treatment for acute lymphoblastic leukemia; Narcolepsy; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; fasting glucose-related traits ; Erythrocyte Count Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory. Effects of PIP2 hydrolysis GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0046486;glycerolipid metabolic process;IDA|GO:0046834;lipid phosphorylation;IDA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DGKB https://www.uniprot.org/uniprot/Q9Y6T7 https://www.ncbi.nlm.nih.gov/omim/?term=604070 http://www.informatics.jax.org/searchtool/Search.do?query=DGKB&submit=Quick%0D%7320ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKB rs6461146 0.103435 0 0 1 0 0 intergenic intergenic intergenic DGKB(dist=149093),AGMO(dist=209775) DGKB(dist=87618),AGMO(dist=209775) ENSG00000225816(dist=4469),ENSG00000227489(dist=75664) Na Na Na Na Na Na Het;C>G 97;9|5 Ref Hom;C>G 578;0|16 N N - 7 150783906 150783906 C G snp synonymous SNV C78G A26A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AGAP3 Agap3 ENSG00000133612 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 chr7:150782918-150841523 Body Mass Index GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP3 https://www.uniprot.org/uniprot/Q96P47 https://www.ncbi.nlm.nih.gov/omim/?term=616813 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3 rs572361798 0.998802 0 0 1 0 0 exonic exonic exonic AGAP3 AGAP3 ENSG00000133612 synonymous SNV synonymous SNV unknown AGAP3:NM_001042535:exon1:c.C78G:p.A26A,AGAP3:NM_031946:exon1:c.C78G:p.A26A, AGAP3:uc003wjf.1:exon1:c.C78G:p.A26A,AGAP3:uc010lpy.1:exon1:c.C78G:p.A26A,AGAP3:uc003wjg.1:exon1:c.C78G:p.A26A, UNKNOWN Het;C>G 175;2|4 Ref Hom;C>G 156;0|3 N N - 7 150783908 150783908 C CG indel frameshift substitution 80_80delinsCG AGAP3 Agap3 ENSG00000133612 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 chr7:150782918-150841523 Body Mass Index GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP3 https://www.uniprot.org/uniprot/Q96P47 https://www.ncbi.nlm.nih.gov/omim/?term=616813 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3 rs552859803 0.998802 0 0 1 0 0 exonic exonic exonic AGAP3 AGAP3 ENSG00000133612 frameshift substitution frameshift substitution unknown AGAP3:NM_001042535:exon1:c.80_80delinsCG,AGAP3:NM_031946:exon1:c.80_80delinsCG, AGAP3:uc003wjf.1:exon1:c.80_80delinsCG,AGAP3:uc010lpy.1:exon1:c.80_80delinsCG,AGAP3:uc003wjg.1:exon1:c.80_80delinsCG, UNKNOWN Het;+G 166;2|5 Ref Hom;+G 98;0|3 N N - 7 150783911 150783911 A G snp nonsynonymous SNV A83G Q28R polar,hydrophilic,neutral polar,hydrophilic,charged(+) AGAP3 Agap3 ENSG00000133612 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 chr7:150782918-150841523 Body Mass Index GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP3 https://www.uniprot.org/uniprot/Q96P47 https://www.ncbi.nlm.nih.gov/omim/?term=616813 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3 rs769408537 0 0 0 0.00 0 12 exonic exonic exonic AGAP3 AGAP3 ENSG00000133612 nonsynonymous SNV nonsynonymous SNV unknown AGAP3:NM_001042535:exon1:c.A83G:p.Q28R,AGAP3:NM_031946:exon1:c.A83G:p.Q28R, AGAP3:uc003wjf.1:exon1:c.A83G:p.Q28R,AGAP3:uc010lpy.1:exon1:c.A83G:p.Q28R,AGAP3:uc003wjg.1:exon1:c.A83G:p.Q28R, UNKNOWN Het;A>G 217;2|5 Ref Hom;A>G 152;0|4 N N - 7 150783917 150783917 T G snp nonsynonymous SNV T89G L30R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) AGAP3 Agap3 ENSG00000133612 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 chr7:150782918-150841523 Body Mass Index GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP3 https://www.uniprot.org/uniprot/Q96P47 https://www.ncbi.nlm.nih.gov/omim/?term=616813 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3 rs775200524 0 0 0 0.12 1 8 exonic exonic exonic AGAP3 AGAP3 ENSG00000133612 nonsynonymous SNV nonsynonymous SNV unknown AGAP3:NM_001042535:exon1:c.T89G:p.L30R,AGAP3:NM_031946:exon1:c.T89G:p.L30R, AGAP3:uc003wjf.1:exon1:c.T89G:p.L30R,AGAP3:uc010lpy.1:exon1:c.T89G:p.L30R,AGAP3:uc003wjg.1:exon1:c.T89G:p.L30R, UNKNOWN Het;T>G 259;2|7 Ref Hom;T>G 197;0|5 N N - 7 150783919 150783922 GTCT G indel nonframeshift substitution 91_94G AGAP3 Agap3 ENSG00000133612 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 chr7:150782918-150841523 Body Mass Index GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP3 https://www.uniprot.org/uniprot/Q96P47 https://www.ncbi.nlm.nih.gov/omim/?term=616813 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3 rs776100575 0 0 0 1 0 0 exonic exonic exonic AGAP3 AGAP3 ENSG00000133612 nonframeshift substitution nonframeshift substitution unknown AGAP3:NM_001042535:exon1:c.91_94G,AGAP3:NM_031946:exon1:c.91_94G, AGAP3:uc003wjf.1:exon1:c.91_94G,AGAP3:uc010lpy.1:exon1:c.91_94G,AGAP3:uc003wjg.1:exon1:c.91_94G, UNKNOWN Het;-TCT 249;2|7 Ref Hom;-TCT 233;0|5 N N - 7 150783922 150783922 T TGGGG indel frameshift substitution 94_94delinsTGGGG AGAP3 Agap3 ENSG00000133612 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 chr7:150782918-150841523 Body Mass Index GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGAP3 https://www.uniprot.org/uniprot/Q96P47 https://www.ncbi.nlm.nih.gov/omim/?term=616813 http://www.informatics.jax.org/searchtool/Search.do?query=AGAP3&submit=Quick%0D%6848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP3 rs766984834 0 0 0 1 0 0 exonic exonic exonic AGAP3 AGAP3 ENSG00000133612 frameshift substitution frameshift substitution unknown AGAP3:NM_001042535:exon1:c.94_94delinsTGGGG,AGAP3:NM_031946:exon1:c.94_94delinsTGGGG, AGAP3:uc003wjf.1:exon1:c.94_94delinsTGGGG,AGAP3:uc010lpy.1:exon1:c.94_94delinsTGGGG,AGAP3:uc003wjg.1:exon1:c.94_94delinsTGGGG, UNKNOWN Het;+GGGG 249;2|7 Ref Hom;+GGGG 233;0|5 N N - 7 151046022 151046022 A G snp intronic NUB1 Nub1 ENSG00000013374 negative regulator of ubiquitin like proteins 1 chr7:151038785-151075535 This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Neddylation GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA http://www.genecards.org/index.php?path=/Search/keyword/NUB1 https://www.uniprot.org/uniprot/Q9Y5A7 https://www.ncbi.nlm.nih.gov/omim/?term=607981 http://www.informatics.jax.org/searchtool/Search.do?query=NUB1&submit=Quick%0D%592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUB1 rs421635 0.778355 0 0 1 0 0 intronic intronic intronic NUB1 NUB1 ENSG00000013374 Na Na Na Na Na Na Het;A>G 45;2|2 Ref Hom;A>G 153;0|5 N N - 7 151135457 151135457 T C snp ncRNA_intronic AC005996.2 rs2074999 0.150559 0 0 1 0 0 intronic intronic ncRNA_intronic CRYGN CRYGN ENSG00000241456 Na Na Na Na Na Na Het;T>C 110;5|5 Ref Hom;T>C 256;0|8 N N - 7 152108520 152108520 A T snp intronic KMT2C Kmt2c ENSG00000055609 lysine methyltransferase 2C chr7:151832010-152133090 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] Mental Disorders; Schizophrenia; Celiac Disease|; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Vitamin D Deficiency; Triglycerides Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0051568;histone H3-K4 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA|GO:0044666;MLL3/4 complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2C https://www.uniprot.org/uniprot/Q8NEZ4 https://hpo.jax.org/app/browse/search?q=KMT2C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606833 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2C&submit=Quick%0D%998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2C rs79780079 0 0 0 1 0 0 intronic intronic intronic KMT2C KMT2C ENSG00000055609 Na Na Na Na Na Na Het;A>T 283;1|5 Ref Hom;A>T 197;0|5 N N - 7 152108530 152108530 T C snp intronic KMT2C Kmt2c ENSG00000055609 lysine methyltransferase 2C chr7:151832010-152133090 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] Mental Disorders; Schizophrenia; Celiac Disease|; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Vitamin D Deficiency; Triglycerides Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0051568;histone H3-K4 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA|GO:0044666;MLL3/4 complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2C https://www.uniprot.org/uniprot/Q8NEZ4 https://hpo.jax.org/app/browse/search?q=KMT2C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606833 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2C&submit=Quick%0D%998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2C rs73164551 0 0 0 1 0 0 intronic intronic intronic KMT2C KMT2C ENSG00000055609 Na Na Na Na Na Na Het;T>C 263;1|7 Ref Hom;T>C 197;0|5 N N - 7 152108534 152108534 C A snp intronic KMT2C Kmt2c ENSG00000055609 lysine methyltransferase 2C chr7:151832010-152133090 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] Mental Disorders; Schizophrenia; Celiac Disease|; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Vitamin D Deficiency; Triglycerides Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0051568;histone H3-K4 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA|GO:0044666;MLL3/4 complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2C https://www.uniprot.org/uniprot/Q8NEZ4 https://hpo.jax.org/app/browse/search?q=KMT2C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606833 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2C&submit=Quick%0D%998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2C rs80241239 0 0 0 1 0 0 intronic intronic intronic KMT2C KMT2C ENSG00000055609 Na Na Na Na Na Na Het;C>A 38;6|2 Ref Hom;C>A 197;0|5 N N - 7 152108556 152108556 T TC indel intronic KMT2C Kmt2c ENSG00000055609 lysine methyltransferase 2C chr7:151832010-152133090 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] Mental Disorders; Schizophrenia; Celiac Disease|; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Vitamin D Deficiency; Triglycerides Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0051568;histone H3-K4 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA|GO:0044666;MLL3/4 complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2C https://www.uniprot.org/uniprot/Q8NEZ4 https://hpo.jax.org/app/browse/search?q=KMT2C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606833 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2C&submit=Quick%0D%998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2C rs11368655 0 0 0 1 0 0 intronic intronic intronic KMT2C KMT2C ENSG00000055609 Na Na Na Na Na Na Het;+C 335;2|9 Ref Hom;+C 138;0|4 N N - 7 152108562 152108562 G A snp intronic KMT2C Kmt2c ENSG00000055609 lysine methyltransferase 2C chr7:151832010-152133090 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] Mental Disorders; Schizophrenia; Celiac Disease|; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Vitamin D Deficiency; Triglycerides Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0051568;histone H3-K4 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA|GO:0044666;MLL3/4 complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2C https://www.uniprot.org/uniprot/Q8NEZ4 https://hpo.jax.org/app/browse/search?q=KMT2C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606833 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2C&submit=Quick%0D%998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2C rs79191589 0 0 0 1 0 0 intronic intronic intronic KMT2C KMT2C ENSG00000055609 Na Na Na Na Na Na Het;G>A 344;2|9 Ref Hom;G>A 147;0|3 N N - 7 152108667 152108667 C T snp intronic KMT2C Kmt2c ENSG00000055609 lysine methyltransferase 2C chr7:151832010-152133090 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] Mental Disorders; Schizophrenia; Celiac Disease|; Uric Acid; Type 2 Diabetes| edema | rosiglitazone; Vitamin D Deficiency; Triglycerides Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0051568;histone H3-K4 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA|GO:0044666;MLL3/4 complex;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2C https://www.uniprot.org/uniprot/Q8NEZ4 https://hpo.jax.org/app/browse/search?q=KMT2C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606833 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2C&submit=Quick%0D%998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2C rs7797849 0 0 0 1 0 0 intronic intronic intronic KMT2C KMT2C ENSG00000055609 Na Na Na Na Na Na Het;C>T 53;2|4 Het;C>T 50;2|2 Hom;C>T 185;0|5 N N - 7 152250979 152250979 G GCC indel intergenic LINC01003 rs201354789 0 0 0 1 0 0 intergenic intergenic intergenic LINC01003(dist=88349),XRCC2(dist=92608) LOC100128822(dist=88349),XRCC2(dist=92608) ENSG00000261455(dist=88345),ENSG00000231139(dist=36747) Na Na Na Na Na Na Het;+CC 36;1|2 Ref Hom;+CC 98;0|3 N N - 7 15405301 15405303 CAT C indel intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs144317470 0.024361 0 0 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;-AT 719;14|19 Ref Hom;-AT 2698;2|63 N N - 7 15405866 15405866 G T snp intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs62450359 0.0189696 0.0266 0.0489 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;G>T 376;9|18 Ref Hom;G>T 2050;0|76 N N - 7 15406634 15406634 G C snp intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs62452361 0.024361 0 0 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;G>C 75;9|5 Ref Hom;G>C 548;0|16 N N - 7 15425281 15425282 AT A indel intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs11331867 0.155351 0 0 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;-T 383;9|20 Ref Hom;-T 610;0|25 N N - 7 15427176 15427176 T TA indel intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs397962726 0.154153 0.1549 0.0669 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;+A 672;25|30 Ref Hom;+A 1846;1|65 N N - 7 15427309 15427309 T C snp intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs58268106 0.154752 0 0 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;T>C 48;1|2 Ref Hom;T>C 139;0|4 N N - 7 15430259 15430259 A C snp intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs6942879 0.313099 0.3501 0.3517 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;A>C 611;30|25 Ref Hom;A>C 1551;0|51 N N - 7 15458186 15458186 T C snp synonymous SNV A606G T202T polar,hydrophilic,neutral polar,hydrophilic,neutral AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs28635514 0.0605032 0.0655 0.0495 1 0 0 exonic exonic exonic AGMO AGMO ENSG00000187546 synonymous SNV synonymous SNV unknown AGMO:NM_001004320:exon5:c.A606G:p.T202T, AGMO:uc003stb.1:exon5:c.A606G:p.T202T, UNKNOWN Het;T>C 128;15|8 Ref Hom;T>C 1275;0|49 N N - 7 15458330 15458330 C T snp intronic AGMO Agmo ENSG00000187546 alkylglycerol monooxygenase chr7:15239943-15601640 The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] Receptors, Tumor Necrosis Factor; fasting glucose-related traits Triglyceride biosynthesis GO:0006643;membrane lipid metabolic process;IDA|GO:0008610;lipid biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0046485;ether lipid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IMP|GO:0016491;oxidoreductase activity;IEA|GO:0050479;glyceryl-ether monooxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/AGMO https://www.ncbi.nlm.nih.gov/omim/?term=613738 http://www.informatics.jax.org/searchtool/Search.do?query=AGMO&submit=Quick%0D%15840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGMO rs28754437 0.0605032 0.0576 0.0470 1 0 0 intronic intronic intronic AGMO AGMO ENSG00000187546 Na Na Na Na Na Na Het;C>T 133;9|8 Ref Hom;C>T 530;0|21 N N - 7 156426292 156426292 A G snp ncRNA_exonic AC005534.2 rs13237363 0.404153 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01006(dist=30403),C7orf13(dist=4768) LINC00244(dist=92497),C7orf13(dist=4768) ENSG00000234450 Na Na Na Na Na Na Het;A>G 53;2|4 Ref Hom;A>G 120;0|6 N N - 7 156468939 156468939 G GTGTA indel intronic RNF32 Rnf32 ENSG00000105982 ring finger protein 32 chr7:156432975-156469824 The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0016235;aggresome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF32 https://www.uniprot.org/uniprot/Q9H0A6 https://www.ncbi.nlm.nih.gov/omim/?term=610241 http://www.informatics.jax.org/searchtool/Search.do?query=RNF32&submit=Quick%0D%105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF32 rs140092411 0.397764 0 0.2873 1 0 0 intronic intronic intronic RNF32 RNF32 ENSG00000105982 Na Na Na Na Na Na Het;+TGTA 553;2|15 Het;+TGTA 262;3|8 Hom;+TGTA 531;0|13 N N - 7 15652068 15652068 T G snp nonsynonymous SNV A859C I287L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MEOX2 Meox2 ENSG00000106511 mesenchyme homeobox 2 chr7:15650837-15726437 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008] Echocardiography; Cell Adhesion Molecules; Coronary Artery Disease; Tobacco Use Disorder Several mutations that inactivate the gene result in mild defects of rib and vertebrae development. Inactivation in conjunction with a null mutation in a related homeobox gene results in more severe defects stemming from impaired somite formation, patterning, and differentiation. GO:0001525;angiogenesis;IEA|GO:0001757;somite specification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;TAS|GO:0007519;skeletal muscle tissue development;IEA|GO:0008015;blood circulation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0060021;palate development;IEA|GO:0060173;limb development;IEA|GO:0061053;somite development;IBA|GO:0070997;neuron death;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IGI GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0016607;nuclear speck;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MEOX2 https://www.uniprot.org/uniprot/P50222 https://www.ncbi.nlm.nih.gov/omim/?term=600535 http://www.informatics.jax.org/searchtool/Search.do?query=MEOX2&submit=Quick%0D%3509ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEOX2 rs2237493 0.125 0.0298 0.0657 0.23 3 13 exonic exonic exonic MEOX2 MEOX2 ENSG00000106511 nonsynonymous SNV nonsynonymous SNV unknown MEOX2:NM_005924:exon3:c.A859C:p.I287L, MEOX2:uc003stc.3:exon3:c.A859C:p.I287L, UNKNOWN Het;T>G 1064;39|46 Ref Hom;T>G 2003;0|69 N N - 7 15734564 15734564 G C snp ncRNA_exonic MEOX2-AS1 rs968865 0.473243 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic MEOX2-AS1 MEOX2(dist=8256),ISPD(dist=392588) ENSG00000229108 Na Na Na Na Na Na Het;G>C 1385;87|60 Het;G>C 1895;94|80 Hom;G>C 5097;0|172 N N - 7 15734715 15734715 T G snp ncRNA_exonic MEOX2-AS1 rs726395 0.509984 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic MEOX2-AS1 MEOX2(dist=8407),ISPD(dist=392437) ENSG00000229108 Na Na Na Na Na Na Het;T>G 1959;94|79 Het;T>G 2029;95|90 Hom;T>G 5923;0|208 N N - 7 15735165 15735165 C A snp ncRNA_exonic MEOX2-AS1 rs11972297 0.209465 0 0 1 0 0 ncRNA_exonic intergenic downstream MEOX2-AS1 MEOX2(dist=8857),ISPD(dist=391987) ENSG00000229108 Na Na Na Na Na Na Het;C>A 1776;101|84 Ref Hom;C>A 5566;1|200 N N - 7 15735559 15735559 G T snp ncRNA_exonic MEOX2-AS1 rs17168992 0.273163 0 0 1 0 0 ncRNA_exonic intergenic downstream MEOX2-AS1 MEOX2(dist=9251),ISPD(dist=391593) ENSG00000229108 Na Na Na Na Na Na Het;G>T 1964;93|88 Ref Hom;G>T 5664;0|201 N N - 7 158445267 158445267 C CA indel intronic NCAPG2 Ncapg2 ENSG00000146918 non-SMC condensin II complex subunit G2 chr7:158424003-158497520 This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development. Condensation of Prophase Chromosomes GO:0001833;inner cell mass cell proliferation;IEA|GO:0007049;cell cycle;IEA|GO:0030261;chromosome condensation;IEA|GO:0051301;cell division;IEA GO:0000796;condensin complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA GO:0035064;methylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NCAPG2 https://www.uniprot.org/uniprot/Q86XI2 https://www.ncbi.nlm.nih.gov/omim/?term=608532 http://www.informatics.jax.org/searchtool/Search.do?query=NCAPG2&submit=Quick%0D%8930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPG2 rs398039298 0.511581 0 0 1 0 0 intronic intronic intronic NCAPG2 NCAPG2 ENSG00000146918 Na Na Na Na Na Na Het;+A 168;5|8 Het;+A 32;5|3 Hom;+A 84;0|4 N N - 7 1585243 1585243 C T snp UTR3 *1345G>A TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs4725207 0.59984 0.5596 0 1 0 0 UTR3 UTR3 UTR3 TMEM184A(NM_001097620:c.*1345G>A) TMEM184A(uc003skt.4:c.*1345G>A,uc021zyr.1:c.*1345G>A,uc003skv.4:c.*1345G>A) ENSG00000164855(ENST00000297477:c.*1345G>A,ENST00000319018:c.*2010G>A) Na Na Na Na Na Na Het;C>T 41;6|4 Het;C>T 124;2|6 Hom;C>T 204;0|10 N N - 7 1586653 1586653 A AGCC indel nonframeshift substitution 1177_1177delinsGGCT TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs112463195 0 0.0015 0.5494 1 0 0 exonic exonic exonic TMEM184A TMEM184A ENSG00000164855 nonframeshift substitution nonframeshift substitution unknown TMEM184A:NM_001097620:exon9:c.1177_1177delinsGGCT, TMEM184A:uc003skt.4:exon6:c.1114_1114delinsGGCT,TMEM184A:uc021zyr.1:exon7:c.592_592delinsGGCT,TMEM184A:uc003skv.4:exon9:c.1177_1177delinsGGCT, UNKNOWN Het;+GCC 1105;50|46 Het;+GCC 1220;46|32 Hom;+GCC 3517;1|76 N N - 7 1586662 1586662 T C snp nonsynonymous SNV A1105G S369G polar,hydrophilic,neutral aliphatic,neutral TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs3779607 0.626997 0.5394 0.6027 0.08 1 12 exonic exonic exonic TMEM184A TMEM184A ENSG00000164855 nonsynonymous SNV nonsynonymous SNV unknown TMEM184A:NM_001097620:exon9:c.A1168G:p.S390G, TMEM184A:uc003skt.4:exon6:c.A1105G:p.S369G,TMEM184A:uc021zyr.1:exon7:c.A583G:p.S195G,TMEM184A:uc003skv.4:exon9:c.A1168G:p.S390G, UNKNOWN Het;T>C 1959;57|56 Het;T>C 1281;50|36 Hom;T>C 3574;3|87 N N - 7 1586866 1586866 T C snp intronic TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs3824072 0.677716 0.6124 0.6132 1 0 0 intronic intronic intronic TMEM184A TMEM184A ENSG00000164855 Na Na Na Na Na Na Het;T>C 317;15|11 Het;T>C 338;15|15 Hom;T>C 526;0|16 N N - 7 1587687 1587687 A G snp intronic TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs3814480 0.684505 0 0 1 0 0 intronic intronic intronic TMEM184A TMEM184A ENSG00000164855 Na Na Na Na Na Na Het;A>G 79;2|3 Ref Hom;A>G 135;0|4 N N - 7 1588391 1588391 A G snp nonsynonymous SNV T515C V172A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs3814481 0.67472 0 0.6586 1 0 0 intronic exonic intronic TMEM184A TMEM184A ENSG00000164855 Na nonsynonymous SNV Na Na TMEM184A:uc003skt.4:exon4:c.T515C:p.V172A, Na Het;A>G 1093;26|39 Het;A>G 681;31|25 Hom;A>G 665;0|23 N N - 7 1589417 1589417 T G snp UTR5 -512A>C TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs10237660 0.664936 0 0 1 0 0 intronic UTR5 intronic TMEM184A TMEM184A(uc003skt.4:c.-512A>C) ENSG00000164855 Na Na Na Na Na Na Het;T>G 257;12|10 Ref Hom;T>G 145;0|5 N N - 7 1590376 1590376 T C snp intronic TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs2304360 0.670927 0 0 1 0 0 intronic intronic intronic TMEM184A TMEM184A ENSG00000164855 Na Na Na Na Na Na Het;T>C 197;20|10 Het;T>C 113;15|7 Hom;T>C 692;0|16 N N - 7 1590443 1590443 T C snp intronic TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs2304361 0.609225 0.5720 0.6020 1 0 0 intronic intronic intronic TMEM184A TMEM184A ENSG00000164855 Na Na Na Na Na Na Het;T>C 611;51|28 Het;T>C 716;46|35 Hom;T>C 2267;0|81 N N - 7 1595068 1595068 G A snp nonsynonymous SNV C53T A18V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs17852421 0.222045 0.2143 0.2486 0.08 1 12 exonic exonic exonic TMEM184A TMEM184A ENSG00000164855 nonsynonymous SNV nonsynonymous SNV unknown TMEM184A:NM_001097620:exon2:c.C53T:p.A18V, TMEM184A:uc003skv.4:exon2:c.C53T:p.A18V, UNKNOWN Het;G>A 1597;85|75 Het;G>A 1316;97|66 Hom;G>A 4194;0|158 N N - 7 16131260 16131260 C T snp UTR3 *60G>A ISPD Ispd ENSG00000214960 isoprenoid synthase domain containing chr7:16130817-16460947 This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias. GO:0006486;protein glycosylation;IEA|GO:0007411;axon guidance;IEA|GO:0008299;isoprenoid biosynthetic process;IEA|GO:0035269;protein O-linked mannosylation;IMP GO:0003824;catalytic activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0070567;cytidylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ISPD https://www.ncbi.nlm.nih.gov/omim/?term=614631 http://www.informatics.jax.org/searchtool/Search.do?query=ISPD&submit=Quick%0D%18294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ISPD rs1528137 0.796326 0 0 1 0 0 UTR3 UTR3 UTR3 ISPD(NM_001101426:c.*60G>A,NM_001101417:c.*60G>A) ISPD(uc010ktx.2:c.*60G>A,uc010kty.2:c.*60G>A) ENSG00000214960(ENST00000399310:c.*60G>A,ENST00000407010:c.*60G>A) Na Na Na Na Na Na Het;C>T 1006;39|44 Ref Hom;C>T 2497;1|92 N N - 7 16255602 16255602 A T snp ncRNA_intronic LOC100506025 rs4389828 0.607228 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic ISPD-AS1 LOC100506025 ENSG00000229688 Na Na Na Na Na Na Het;A>T 881;50|42 Ref Hom;A>T 2235;0|85 N N - 7 16445673 16445673 A T snp intronic ISPD Ispd ENSG00000214960 isoprenoid synthase domain containing chr7:16130817-16460947 This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias. GO:0006486;protein glycosylation;IEA|GO:0007411;axon guidance;IEA|GO:0008299;isoprenoid biosynthetic process;IEA|GO:0035269;protein O-linked mannosylation;IMP GO:0003824;catalytic activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0070567;cytidylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ISPD https://www.ncbi.nlm.nih.gov/omim/?term=614631 http://www.informatics.jax.org/searchtool/Search.do?query=ISPD&submit=Quick%0D%18294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ISPD rs6461252 0.534145 0.4698 0.4715 1 0 0 intronic intronic intronic ISPD ISPD ENSG00000214960 Na Na Na Na Na Na Het;A>T 727;31|31 Het;A>T 764;37|38 Hom;A>T 1433;0|50 N N - 7 1654146 1654146 A G snp ncRNA_exonic TFAMP1 rs6970313 0.588259 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream TFAMP1 TFAMP1 ENSG00000230444 Na Na Na Na Na Na Het;A>G 1340;63|64 Het;A>G 1028;69|51 Hom;A>G 2991;0|106 N N - 7 1680603 1680603 A G snp intergenic TFAMP1 rs7786528 0.619609 0 0 1 0 0 intergenic intergenic intergenic TFAMP1(dist=24275),ELFN1(dist=68195) TFAMP1(dist=24275),LOC401296(dist=51843) ENSG00000231476(dist=19562),ENSG00000225968(dist=47152) Na Na Na Na Na Na Het;A>G 53;2|4 Ref Hom;A>G 112;0|5 N N - 7 1778741 1778741 C T snp ncRNA_exonic ELFN1-AS1 rs3735664 0.398163 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic ELFN1-AS1 JX046910 ENSG00000236081 Na Na Na Na Na Na Het;C>T 2215;76|90 Het;C>T 1768;66|82 Hom;C>T 3436;0|123 N N - 7 1778953 1778953 T G snp ncRNA_exonic ELFN1-AS1 rs3735663 0.26897 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic ELFN1-AS1 JX046910 ENSG00000236081 Na Na Na Na Na Na Het;T>G 2239;121|88 Het;T>G 2242;78|88 Hom;T>G 5810;1|203 N N - 7 1779109 1779109 C T snp ncRNA_exonic ELFN1-AS1 rs12672562 0.301717 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic ELFN1-AS1 JX046910 ENSG00000236081 Na Na Na Na Na Na Het;C>T 2245;100|101 Het;C>T 2523;132|122 Hom;C>T 4760;0|180 N N - 7 18624800 18624800 T C snp intronic HDAC9 Hdac9 ENSG00000048052 histone deacetylase 9 chr7:18126572-19042039 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Atrial Natriuretic Factor; Mental Competency; Body Weight; Diabetes Mellitus, Type 2; Electrocardiography; Blood Pressure; Waist Circumference; colorectal cancer; non-small cell lung carcinoma; Coronary Artery Disease; Bone Density; HDAC inhibitor-induced growth arrest.; Pulse; Stroke; Type 2 Diabetes| edema | rosiglitazone; hypertension; Blood Cells Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001975;response to amphetamine;IEA|GO:0006325;chromatin organization;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;TAS|GO:0032869;cellular response to insulin stimulus;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0042113;B cell activation;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048742;regulation of skeletal muscle fiber development;ISS|GO:0051153;regulation of striated muscle cell differentiation;ISS|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0090050;positive regulation of cell migration involved in sprouting angiogenesis;IMP GO:0000118;histone deacetylase complex;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0035097;histone methyltransferase complex;ISS GO:0003714;transcription corepressor activity;ISS|GO:0004407;histone deacetylase activity;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDAC9 https://www.uniprot.org/uniprot/Q9UKV0 https://www.ncbi.nlm.nih.gov/omim/?term=606543 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC9&submit=Quick%0D%883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC9 rs2073974 0.51877 0 0 1 0 0 intronic intronic intronic HDAC9 HDAC9 ENSG00000048052 Na Na Na Na Na Na Het;T>C 159;3|5 Het;T>C 116;5|4 Hom;T>C 391;0|10 N N - 7 18630208 18630208 A C snp intronic HDAC9 Hdac9 ENSG00000048052 histone deacetylase 9 chr7:18126572-19042039 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Atrial Natriuretic Factor; Mental Competency; Body Weight; Diabetes Mellitus, Type 2; Electrocardiography; Blood Pressure; Waist Circumference; colorectal cancer; non-small cell lung carcinoma; Coronary Artery Disease; Bone Density; HDAC inhibitor-induced growth arrest.; Pulse; Stroke; Type 2 Diabetes| edema | rosiglitazone; hypertension; Blood Cells Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001975;response to amphetamine;IEA|GO:0006325;chromatin organization;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;TAS|GO:0032869;cellular response to insulin stimulus;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0042113;B cell activation;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048742;regulation of skeletal muscle fiber development;ISS|GO:0051153;regulation of striated muscle cell differentiation;ISS|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0090050;positive regulation of cell migration involved in sprouting angiogenesis;IMP GO:0000118;histone deacetylase complex;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0035097;histone methyltransferase complex;ISS GO:0003714;transcription corepressor activity;ISS|GO:0004407;histone deacetylase activity;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDAC9 https://www.uniprot.org/uniprot/Q9UKV0 https://www.ncbi.nlm.nih.gov/omim/?term=606543 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC9&submit=Quick%0D%883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC9 rs1726610 0.711462 0 0 1 0 0 intronic intronic intronic HDAC9 HDAC9 ENSG00000048052 Na Na Na Na Na Na Het;A>C 395;5|12 Het;A>C 315;8|11 Hom;A>C 749;0|21 N N - 7 18993870 18993870 C T snp synonymous SNV C3030T F1010F aromatic,hydrophobic,neutral aromatic,hydrophobic,neutral HDAC9 Hdac9 ENSG00000048052 histone deacetylase 9 chr7:18126572-19042039 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Atrial Natriuretic Factor; Mental Competency; Body Weight; Diabetes Mellitus, Type 2; Electrocardiography; Blood Pressure; Waist Circumference; colorectal cancer; non-small cell lung carcinoma; Coronary Artery Disease; Bone Density; HDAC inhibitor-induced growth arrest.; Pulse; Stroke; Type 2 Diabetes| edema | rosiglitazone; hypertension; Blood Cells Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001975;response to amphetamine;IEA|GO:0006325;chromatin organization;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006954;inflammatory response;TAS|GO:0007507;heart development;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030182;neuron differentiation;IEA|GO:0030183;B cell differentiation;TAS|GO:0032869;cellular response to insulin stimulus;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0042113;B cell activation;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048742;regulation of skeletal muscle fiber development;ISS|GO:0051153;regulation of striated muscle cell differentiation;ISS|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0090050;positive regulation of cell migration involved in sprouting angiogenesis;IMP GO:0000118;histone deacetylase complex;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IDA|GO:0035097;histone methyltransferase complex;ISS GO:0003714;transcription corepressor activity;ISS|GO:0004407;histone deacetylase activity;IDA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDAC9 https://www.uniprot.org/uniprot/Q9UKV0 https://www.ncbi.nlm.nih.gov/omim/?term=606543 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC9&submit=Quick%0D%883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC9 rs2389998 0.773562 0.7687 0.7679 1 0 0 exonic exonic exonic HDAC9 HDAC9 ENSG00000048052 synonymous SNV synonymous SNV unknown HDAC9:NM_058176:exon23:c.C3030T:p.F1010F, HDAC9:uc003suh.3:exon23:c.C3030T:p.F1010F, UNKNOWN Het;C>T 552;25|24 Het;C>T 852;52|41 Hom;C>T 2457;0|94 N N - 7 20351465 20351465 G A snp downstream AC099342.1 rs2286695 0.539537 0 0 1 0 0 downstream intergenic downstream LOC101927769 MACC1(dist=94452),ITGB8(dist=18860) ENSG00000226097 Na Na Na Na Na Na Het;G>A 105;5|4 Ref Hom;G>A 115;0|4 N N - 7 20707244 20707244 A C snp intronic ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs28656113 0.608227 0 0 1 0 0 intronic intronic intronic ABCB5 ABCB5 ENSG00000004846 Na Na Na Na Na Na Het;A>C 39;2|3 Ref Hom;A>C 267;0|7 N N - 7 20762543 20762543 T A snp UTR5 -141T>A ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs6948504 0.795727 0 0 1 0 0 intronic UTR5 intronic ABCB5 ABCB5(uc003sux.1:c.-141T>A) ENSG00000004846 Na Na Na Na Na Na Het;T>A 153;10|7 Ref Hom;T>A 312;0|9 N N - 7 20762609 20762609 T C snp UTR5 -75T>C ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs73085689 0.23123 0.2877 0.3049 1 0 0 intronic UTR5 intronic ABCB5 ABCB5(uc003sux.1:c.-75T>C) ENSG00000004846 Na Na Na Na Na Na Het;T>C 489;37|22 Ref Hom;T>C 1395;0|50 N N - 7 20762646 20762646 G T snp nonsynonymous SNV G2429T G810V aliphatic,neutral aliphatic,hydrophobic,neutral ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs62453384 0.232228 0.2991 0.3049 0.77 10 13 exonic exonic exonic ABCB5 ABCB5 ENSG00000004846 nonsynonymous SNV nonsynonymous SNV unknown ABCB5:NM_001163941:exon21:c.G2429T:p.G810V,ABCB5:NM_178559:exon12:c.G1094T:p.G365V, ABCB5:uc010kuh.3:exon21:c.G2429T:p.G810V,ABCB5:uc003suw.4:exon12:c.G1094T:p.G365V, UNKNOWN Het;G>T 776;51|38 Ref Hom;G>T 2291;0|86 N N - 7 20762937 20762937 T C snp intronic ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs62453385 0.247604 0 0 1 0 0 intronic intronic intronic ABCB5 ABCB5 ENSG00000004846 Na Na Na Na Na Na Het;T>C 117;5|4 Ref Hom;T>C 143;0|4 N N - 7 20767815 20767815 C T snp intronic ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs4721940 0.271565 0 0 1 0 0 intronic intronic intronic ABCB5 ABCB5 ENSG00000004846 Na Na Na Na Na Na Het;C>T 207;6|7 Ref Hom;C>T 447;0|13 N N - 7 20778646 20778646 G A snp nonsynonymous SNV G2908A E970K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs6461515 0.756789 0.7738 0.8033 0.23 3 13 exonic exonic exonic ABCB5 ABCB5 ENSG00000004846 nonsynonymous SNV nonsynonymous SNV unknown ABCB5:NM_001163941:exon24:c.G2908A:p.E970K,ABCB5:NM_178559:exon15:c.G1573A:p.E525K, ABCB5:uc010kuh.3:exon24:c.G2908A:p.E970K,ABCB5:uc003suw.4:exon15:c.G1573A:p.E525K, UNKNOWN Het;G>A 791;57|39 Ref Hom;G>A 2885;0|104 N N - 7 20778773 20778773 C G snp intronic ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs6461516 0.800519 0.8195 0.8290 1 0 0 intronic intronic intronic ABCB5 ABCB5 ENSG00000004846 Na Na Na Na Na Na Het;C>G 818;61|36 Ref Hom;C>G 2908;0|98 N N - 7 20782474 20782474 T C snp intronic ABCB5 Abcb5 ENSG00000004846 ATP binding cassette subfamily B member 5 chr7:20654830-20816658 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] obesity; Behcet Syndrome Mice homozygous for a null allele display limbal stem cell abnormalities, impaired cornea development and repair, and retinal abnormalities. ABC-family proteins mediated transport GO:0006810;transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042908;xenobiotic transport;IEA|GO:0048058;compound eye corneal lens development;IEA|GO:0055085;transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0008559;xenobiotic-transporting ATPase activity;TAS|GO:0015562;efflux transmembrane transporter activity;IDA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABCB5 https://www.uniprot.org/uniprot/Q2M3G0 https://www.ncbi.nlm.nih.gov/omim/?term=611785 http://www.informatics.jax.org/searchtool/Search.do?query=ABCB5&submit=Quick%0D%330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCB5 rs12669866 0.543331 0.5070 0.5620 1 0 0 intronic intronic intronic ABCB5 ABCB5 ENSG00000004846 Na Na Na Na Na Na Het;T>C 383;15|13 Ref Hom;T>C 502;0|17 N N - 7 20824614 20824614 C T snp synonymous SNV G768A S256S polar,hydrophilic,neutral polar,hydrophilic,neutral SP8 Sp8 ENSG00000164651 Sp8 transcription factor chr7:20823906-20826505 The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Cleft Lip|Cleft Palate; Bipolar Disorder Homozygous mutant fetuses are characterized by truncated limbs, the lack of a tail, and neural tube defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0030326;embryonic limb morphogenesis;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP8 https://www.ncbi.nlm.nih.gov/omim/?term=608306 http://www.informatics.jax.org/searchtool/Search.do?query=SP8&submit=Quick%0D%11355ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP8 rs34908430 0.269768 0.1939 0.4253 1 0 0 exonic exonic exonic SP8 SP8 ENSG00000164651 synonymous SNV synonymous SNV unknown SP8:NM_198956:exon3:c.G768A:p.S256S,SP8:NM_182700:exon2:c.G822A:p.S274S, SP8:uc022aak.1:exon1:c.G768A:p.S256S,SP8:uc003suz.3:exon2:c.G822A:p.S274S,SP8:uc003suy.3:exon3:c.G768A:p.S256S, UNKNOWN Het;C>T 824;47|34 Ref Hom;C>T 1769;0|64 N N - 7 20826452 20826452 T G snp UTR5 -1071A>C SP8 Sp8 ENSG00000164651 Sp8 transcription factor chr7:20823906-20826505 The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Cleft Lip|Cleft Palate; Bipolar Disorder Homozygous mutant fetuses are characterized by truncated limbs, the lack of a tail, and neural tube defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0030326;embryonic limb morphogenesis;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP8 https://www.ncbi.nlm.nih.gov/omim/?term=608306 http://www.informatics.jax.org/searchtool/Search.do?query=SP8&submit=Quick%0D%11355ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP8 rs34863300 0.280351 0.2437 0.3304 1 0 0 UTR5 UTR5 UTR5 SP8(NM_182700:c.-35A>C,NM_198956:c.-1071A>C) SP8(uc003suy.3:c.-1071A>C,uc003suz.3:c.-35A>C) ENSG00000164651(ENST00000361443:c.-1071A>C,ENST00000418710:c.-35A>C) Na Na Na Na Na Na Het;T>G 1922;96|87 Ref Hom;T>G 3188;2|113 N N - 7 21468579 21468579 G A snp intronic SP4 Sp4 ENSG00000105866 Sp4 transcription factor chr7:21467652-21554440 The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016] major depressive disorder (broad); Depressive Disorder, Major; Torsion Abnormality|Vascular Malformations; Stroke; major depressive disorder ; retinal degenration; Hypertension; Bipolar Disorder Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP4 https://www.uniprot.org/uniprot/Q02446 https://www.ncbi.nlm.nih.gov/omim/?term=600540 http://www.informatics.jax.org/searchtool/Search.do?query=SP4&submit=Quick%0D%3405ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP4 rs39303 0.506989 0 0 1 0 0 intronic intronic intronic SP4 SP4 ENSG00000105866 Na Na Na Na Na Na Het;G>A 881;28|32 Ref Hom;G>A 1583;0|56 N N - 7 21470513 21470513 T C snp intronic SP4 Sp4 ENSG00000105866 Sp4 transcription factor chr7:21467652-21554440 The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016] major depressive disorder (broad); Depressive Disorder, Major; Torsion Abnormality|Vascular Malformations; Stroke; major depressive disorder ; retinal degenration; Hypertension; Bipolar Disorder Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP4 https://www.uniprot.org/uniprot/Q02446 https://www.ncbi.nlm.nih.gov/omim/?term=600540 http://www.informatics.jax.org/searchtool/Search.do?query=SP4&submit=Quick%0D%3405ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP4 rs39304 0.267971 0.2342 0.2452 1 0 0 intronic intronic intronic SP4 SP4 ENSG00000105866 Na Na Na Na Na Na Het;T>C 856;21|31 Ref Hom;T>C 1361;2|48 N N - 7 21599233 21599233 C T snp synonymous SNV C705T N235N polar,hydrophilic,neutral polar,hydrophilic,neutral DNAH11 Dnah11 ENSG00000105877 dynein axonemal heavy chain 11 chr7:21582833-21941457 This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] Asthenozoospermia|Kartagener Syndrome; Multiple Myeloma; Tobacco Use Disorder; Diabetic Nephropathies; Cholesterol, HDL; Cholesterol; Cholesterol, total; LDL cholesterol; Brain; Cholesterol, LDL; Alzheimer Disease; smoking cessation; Coronary Disease|; Parietal Lobe Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry. GO:0003341;cilium movement;IEA|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH11 https://www.uniprot.org/uniprot/Q96DT5 https://hpo.jax.org/app/browse/search?q=DNAH11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603339 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH11&submit=Quick%0D%3407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH11 rs10950854 0.542931 0.4536 0.4683 1 0 0 exonic exonic exonic DNAH11 DNAH11 ENSG00000105877 synonymous SNV synonymous SNV unknown DNAH11:NM_001277115:exon4:c.C705T:p.N235N, DNAH11:uc031swp.1:exon4:c.C705T:p.N235N, UNKNOWN Het;C>T 1410;57|60 Ref Hom;C>T 3767;0|142 N N - 7 21609623 21609623 G A snp intronic DNAH11 Dnah11 ENSG00000105877 dynein axonemal heavy chain 11 chr7:21582833-21941457 This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] Asthenozoospermia|Kartagener Syndrome; Multiple Myeloma; Tobacco Use Disorder; Diabetic Nephropathies; Cholesterol, HDL; Cholesterol; Cholesterol, total; LDL cholesterol; Brain; Cholesterol, LDL; Alzheimer Disease; smoking cessation; Coronary Disease|; Parietal Lobe Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry. GO:0003341;cilium movement;IEA|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH11 https://www.uniprot.org/uniprot/Q96DT5 https://hpo.jax.org/app/browse/search?q=DNAH11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603339 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH11&submit=Quick%0D%3407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH11 rs62441676 0.171126 0 0 1 0 0 intronic intronic intronic DNAH11 DNAH11 ENSG00000105877 Na Na Na Na Na Na Het;G>A 151;2|6 Ref Hom;G>A 531;0|15 N N - 7 21805228 21805248 TCACACACACACACACACACA T indel intronic DNAH11 Dnah11 ENSG00000105877 dynein axonemal heavy chain 11 chr7:21582833-21941457 This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] Asthenozoospermia|Kartagener Syndrome; Multiple Myeloma; Tobacco Use Disorder; Diabetic Nephropathies; Cholesterol, HDL; Cholesterol; Cholesterol, total; LDL cholesterol; Brain; Cholesterol, LDL; Alzheimer Disease; smoking cessation; Coronary Disease|; Parietal Lobe Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry. GO:0003341;cilium movement;IEA|GO:0003356;regulation of cilium beat frequency;IMP|GO:0007018;microtubule-based movement;IEA|GO:0007368;determination of left/right symmetry;IMP|GO:0007507;heart development;IEA|GO:0030317;flagellated sperm motility;IMP GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH11 https://www.uniprot.org/uniprot/Q96DT5 https://hpo.jax.org/app/browse/search?q=DNAH11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603339 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH11&submit=Quick%0D%3407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH11 rs750261195 0 0 0.0286 1 0 0 intronic intronic intronic DNAH11 DNAH11 ENSG00000105877 Na Na Na Na Na Na Het;-CACACACACACACACACACA 408;10|14 Ref Hom;-CACACACACACACACACACA 612;1|16 N N - 7 22532434 22532434 G C snp intronic STEAP1B Steap1 ENSG00000105889 STEAP family member 1B chr7:22459063-22672544 Diabetes Mellitus, Type 2; Stroke GO:0005768;endosome;IBA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/STEAP1B https://www.uniprot.org/uniprot/Q6NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=STEAP1B&submit=Quick%0D%3411ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STEAP1B rs4000921 0.209864 0 0 1 0 0 intronic intronic intronic STEAP1B STEAP1B ENSG00000105889 Na Na Na Na Na Na Het;G>C 91;21|6 Ref Hom;G>C 561;0|18 N N - 7 22735220 22735220 C T snp intergenic LOC401312 rs2961313 0.598842 0 0 1 0 0 intergenic intergenic intergenic LOC401312(dist=30068),IL6(dist=31546) LOC100506178(dist=121603),LOC541472(dist=29794) ENSG00000238033(dist=30068),ENSG00000179428(dist=29794) Na Na Na Na Na Na Het;C>T 51;8|3 Het;C>T 186;8|7 Hom;C>T 205;0|6 N N - 7 22765336 22765336 G GTC indel ncRNA_exonic LOC541472 rs2069825 0.865016 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic LOC401312(dist=60184),IL6(dist=1430) LOC541472 ENSG00000179428 Na Na Na Na Na Na Het;+TC 2807;66|76 Het;+TC 3307;79|88 Hom;+TC 6562;0|156 N N - 7 22766221 22766221 A G snp ncRNA_exonic LOC541472 rs1800797 0.861821 0 0 1 0 0 upstream ncRNA_exonic ncRNA_exonic IL6 LOC541472 ENSG00000179428 Na Na Na Na Na Na Het;A>G 1538;68|63 Het;A>G 1675;55|61 Hom;A>G 3735;0|132 N N - 7 22766433 22766433 T A snp upstream IL6 Il6 ENSG00000136244 interleukin 6 chr7:22765503-22771621 This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] kidney transplant complications; renal allograft outcome; stroke, lacunar; Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Peptic Ulcer; Pneumoconiosis; Osteomyelitis; Obesity, Morbid; Brucellosis|; Common Cold|; Chlamydia Infections|Inflammation|Trachoma; Lymphoproliferative Disorders; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; Critical Illness|Multiple Organ Failure|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Cardiovascular Diseases|Diabetes Mellitus|Genetic Predisposition to Disease|Hypertension; heart disease, ischemic; heart failure; graft rejection, liver; restenosis; C-reactive protein; Eclampsia|Pre-Eclampsia; benzene haematotoxicity; Obstetric Labor, Premature; Glomerulonephritis, IGA|IGA Glomerulonephritides; Hypercholesterolemia|LDLC levels; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Duodenal Ulcer|Helicobacter Infections|Stomach Neoplasms|Stomach Ulcer; Waldenstrom Macroglobulinemia; Dementia|Inflammation; Gingival Overgrowth; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Cardiovascular Diseases|Obesity; Burns|Infection|Wounds and Injuries; Communicable Diseases|Severe Acute Respiratory Syndrome; Crohn disease; Otitis Media|Respiratory Tract Infections; myocardial infarct; osteoarthritis; Cardiovascular Diseases|Carotid Artery Diseases|; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; Respiratory Tract Infections; pancreatitis, chronic; Kaposi sarcoma; Pancreatitis; Crohn Disease|; limbal stem cell graft; Neutropenia; Fractures, Spontaneous|Osteoporosis, Postmenopausal|Spinal Fractures; Blood Coagulation Disorders|Inflammation|Nervous System Diseases; periodontal disease; Cardiac hypertrophy; Hepatitis B, Chronic; Bone Mineral Density; Duodenal Ulcer|Helicobacter Infections; Dementia; Fractures, Bone|Osteoporosis, Postmenopausal; neonatal infection; heart transplant; arthritis; Crohn Disease; Fatty Liver|Hepatitis C, Chronic|Insulin Resistance; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; Colonic Neoplasms|Inflammation|Rectal Neoplasms; hyperandrogenism; Autoimmune thyroid disease; tooth loss; bone loss; Diabetes Mellitus, Type 2|Glucose Intolerance; Behcet Syndrome|; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Osteoporosis; Hip Fractures|Osteoporosis, Postmenopausal; Coronary Stenosis; Type 2 diabtes; vulvar cancer; kidney graft survival; Improved survival in sepsis; cervical cancer; osteosarcoma; chronic fatigue syndrome; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Critical Illness|Sepsis; Cardiovascular Diseases|Chronic renal failure|Inflammation|Kidney Failure, Chronic; Aortic Aneurysm, Abdominal; Schizophrenia; Brain Neoplasms|Glioma; infertility, male; hepatitis C infection; rheumatoid arthritis; Hypertension; Burns|Multiple Organ Failure|Shock; elite athletes; renal graft function; Multiple Organ Failure|Multiple Trauma|Sepsis|Systemic infection; Streptococcal Infections; Sudden Infant Death; cerebral infarct, atherothrombotic; IL6 transcription; chronic obstructive pulmonary disease/COPD; Body Weight|Insulin Resistance|Obesity|Syndrome; subarachnoid hemorrhage; Coronary Artery Disease|; respiratory syncytial virus bronchiolitis; disc degeneration, intervertebral; Diabetes Mellitus|Hypertension|Insulin Resistance; Alzheimer's disease ; Disease Models, Animal|Fever|Seizures, Febrile; Fatty Liver|Insulin Resistance; Glomerulonephritis, IGA; Aortic Aneurysm, Abdominal|Disease Progression; Coronary Artery Disease|Insulin Resistance; Gastrointestinal Neoplasms|Neuroendocrine Tumors|pancreatic neoplasm|Pancreatic Neoplasms; postoperative systemic inflammatory reaction; respiratory syncytial virus; prostate cancer; C-reactive protein ; endurance performance; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Aortic Aneurysm, Abdominal|Inflammation|Postoperative Complications; Cerebral Palsy|Pregnancy Complications, Infectious|Virus Diseases; Osteoporosis, Postmenopausal|Radius Fractures; Leishmaniasis, Cutaneous; Cardiovascular Diseases|Postoperative Complications; leukopenia neutropenia stomatitis thrombocytopenia; pneumoconiosis, coal workers' silicosis; Premature Birth; COPD | Chronic obstructive Pulmonary Disease; Osteolysis; HTLV-I Infections|Paraparesis, Tropical Spastic|Spinal Cord Diseases; bone mineral density | osteoporosis; Epstein-Barr Virus Infections|Hodgkin Disease; sclerosis, systemic; inflammatory markers; Cardiovascular Diseases; Fetal Growth Retardation|Periodontal Diseases|Pregnancy Complications; Alzheimer Disease|Alzheimer's Disease|Dementia; septicemia in preterm infants; liver cancer; appendicitis; melanoma; non-Hodgkin's lymphoma; sepsis; hepatitis C; longevity; neuroblastoma; coronary heart disease; pemphigus vulgaris; mood disorders; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diabetes Complications|Retinal Artery Occlusion; Dental Plaque|Disease Susceptibility|Gingivitis; Polymyalgia Rheumatica|Recurrence; Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms; Multiple Myeloma|Plasmacytoma; Neuroblastoma; intima-media thickness, carotid; gastroenteritis; Atherosclerosis|Inflammation; Pre-Eclampsia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Carcinoma, Endometrioid|Cystadenocarcinoma, Serous|Neoplasm Invasiveness|ovarian neoplasm|Ovarian Neoplasms|Peritoneal Neoplasms; Endotoxemia; Lipid metabolism; bacterial infection; myocardial infarction; coronary disease; Alphavirus Infections|Infectious Mononucleosis|Q Fever; depression; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; Graft vs Host Disease; Coronary Disease|Coronary heart disease|Influenza|Influenza, Human|Postoperative Complications|Respiratory Tract Infections; Hodgkin Disease; Stomatitis, Aphthous; Arterial Occlusive Diseases|Recurrence; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; kidney failure, chronic; skin cancer, non-melanoma; tuberculosis; Pulmonary Disease, Chronic Obstructive; Gout; Uveitis, Anterior; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; allergies; common cold; Alzheimer`s disease; atopy; idiopathic pulmonary fibrosis; Coronary Disease; Atherosclerosis; Intracranial Arteriovenous Malformations; Polycystic Ovary Syndrome; Chorioamnionitis|Infection of amniotic sac and membranes|Leukomalacia, Periventricular; Coronary Artery Disease|Hyperlipidemias; Autoimmune Diseases|Gastritis; Type 2 diabetes; Aspergillosis|Lung Diseases, Fungal; Arterial Occlusive Diseases|Peripheral Vascular Diseases; cystic fibrosis; normal variation; Inflammation; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bronchitis, Chronic|Bronchopneumonia|Chronic bronchitis |Communicable Diseases; Diabetes mellitus|Insulin Resistance|Postoperative Complications; Fabry Disease|Ischemia; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; Heart Valve Diseases|Rheumatic Heart Disease; Plasma IL6 levels; atherosclerosis; Cardiovascular Diseases|Coronary Artery Disease|Kidney Failure, Chronic|Myocardial Infarction; pregnancy loss; social position; Peptic Ulcer|Stomach Neoplasms; Macular Edema; Macular Degeneration; Bone Resorption|Osteoporosis; obesity|Type 2 diabetes; Hepatitis; osteoporosis, postmenopausal; estradiol; bladder cancer; Brain aging; Edema|Inflammation|Pre-Eclampsia|Proteinuria; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Graft vs Host Disease|Hematologic Neoplasms; Alveolitis, Extrinsic Allergic|Bird Fancier's Lung|Extrinsic allergic alveolitis; Glomerulonephritis|Kidney Failure|kidney; failure; arthritis; osteoarthritis; Scleroderma, Systemic; heart transplant complications; Infection|Inflammation|Premature Birth; Lymphoma, T-Cell, Cutaneous; Acute Lung Injury|Inflammation; Lung Diseases; Diabetes mellitus; Insulin Resistance; Acute-Phase Reaction|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Myocardial Infarction; obesity; weight loss; nephropathy, IgA; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; cardiovascular; anemia C-reactive protein; Thinness; AIDS-Related Opportunistic Infections|Cytomegalovirus Retinitis|Encephalomyelitis|HIV Infections|Hypersensitivity|Mycobacterium avium-intracellulare Infection|[X]Human immunodeficiency virus disease; Juvenile rheumatoid arthritis; cell-surface B7 expression; cytokine production; lupus erythematosus; Spinal Diseases; plasma HDL cholesterol (HDL-C) levels; Alcoholism|Liver Cirrhosis, Alcoholic; Measles|Mumps|Rubella; Brain Ischemia|Inflammation|Stroke; preterm birth; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Body Weight|Insulin Resistance|Metabolic Syndrome X; Fatigue|Neoplasms|Sleep Disorders; asthma; alpha 1-Antitrypsin Deficiency|Lung Neoplasms|Neoplasm of lung |Pulmonary Disease, Chronic Obstructive; Barrett Esophagus|Hernia, Hiatal|Inflammation; Glomerulonephritis, IGA|Kidney Failure, Chronic; Bone Mineralization; liver transplantation, immunosuppression after; renal transplantation, protein secretion in; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Multiple Sclerosis; Recurrence|Venous Thromboembolism; Chlamydia Infections|Infertility, Female; Inflammation|Rectal Neoplasms; Endometriosis|Uterine Diseases; lung cancer ; Cerebral Hemorrhage|Leukomalacia, Periventricular|Sepsis; Autoimmune Diseases|Pelvic Pain|Prostatitis|Syndrome; Angina pectoris; Adenocarcinoma|Gastritis|Helicobacter Infections|Stomach Neoplasms; Metabolic Syndrome X|Obesity; mortality in the elderly; coronary artery disease; bone density; Birth Weight|Chorioamnionitis|Infection|Inflammation; Sepsis; Adenoma|Colorectal Neoplasms; Brucellosis; Carcinoma|Cervical Neoplasm|Uterine Cervical Neoplasms; Scleroderma, Systemic|Systemic Scleroderma; Insulin sensitivity; herpesvirus infection; body mass; dental implants; acute pancreatitis; Hypertension/complications*; IgA Deficiency; Sarcoidosis; Inflammation|Venous Thromboembolism; Hashimoto Disease; pregnancy loss, recurrent; G6PD deficiency; Cystic Fibrosis|; Burns|Shock, Septic; Kidney Failure; Bacteremia|; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; metabolism disorders; Severe sepsis in blunt trauma; morbidity mortality; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Erythema Nodosum|Sarcoidosis; kidney graft function; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; irritable bowel syndrome; Seizures, Febrile; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; BMI; lipid profile; Leptospirosis|Swamp fever; Insulin Resistance|Obesity, Morbid; long-term kidney allograft survival; coronary artery spasm; asthma; eczema; allergic disease; aging; Lupus; Rheumatoid arthritis; cirrhosis; pancreatitis; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Arthritis, Rheumatoid|Atherosclerosis|Rheumatoid Arthritis; Inflammation|Premature Birth; Chronic Periodontitis; bronchiolitis obliterans syndrome; parvovirus B19 infection; systemic lupus erythematosus; graft versus host disease; Alzheimer's Disease; colorectal cancer; leukemia, acute myeloid; longevity; myelodysplasia; Osteoporosis, Postmenopausal; Coronary Artery Disease; rubella vaccination; desensitization in solid organ transplant recipients ; Mucocutaneous Lymph Node Syndrome; allograft outcome; Multiple sclerosis; Coronary Atherosclerosis; Lacunar Infarction; Cardiovascular Disease; Multiple Myeloma|Myelodysplastic Syndromes; Celiac Disease|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune; Leukemia, Lymphocytic, Chronic, B-Cell; Coronary Disease|Coronary heart disease; kidney; failure|Renal Insufficiency; Periodontal Diseases; Aneurysm, Ruptured|Aortic Aneurysm, Abdominal; Mouth Neoplasms; Septic Shock|Shock, Septic; Colorectal Cancer; leukemia virus type I; atherosclerosis, coronary lipids lipoprotein; Bleeding After Cardiac Surgery; Atherosclerosis|Cardiovascular Diseases; Chronic Periodontitis|Periodontitis; Atrial Fibrillation|Blood Loss, Surgical|Coronary Disease|Coronary heart disease; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; Dermatitis, Atopic|Eczema allergic; Aortic Aneurysm, Abdominal|Aortic Rupture; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; lymphoproliferative disorders, post-transplant; Biliary Tract Neoplasms|Inflammation; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; cyclosporine ; Common Variable Immunodeficiency; Acute Coronary Syndrome|; interstitial lung diseases; Lichen Planus, Oral; pharmacogenetic studies; breast cancer ; Apoplexy|Myocardial ischemia|Stroke; Helicobacter Infections|Stomach Neoplasms; esophageal adenocarcinoma; Hypercholesterolemia|Inflammation; liver transplant; multiple sclerosis; celiac disease; Asthma|; papillary thyroid carcinoma; Sleep Apnea, Obstructive; bacterial vaginosis; Aggressive Periodontitis|Periodontitis, Juvenile; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Apoplexy|Brain Ischemia|Stroke; Migraine Disorders|Migraine with Aura|Migraine without Aura; Multiple System Atrophy; Chronic renal failure|Kidney Failure, Chronic; preterm delivery; Lymphoma, Large B-Cell, Diffuse; Peripheral Vascular Diseases; multiple myeloma; Diabetes Mellitus, Type 2; epithelial ovarian cancer ; Inflammation|Intracranial Arteriovenous Malformation|Intracranial Arteriovenous Malformations|Intracranial Hemorrhages; Liver Diseases, Alcoholic; Obesity|Sleep Apnea, Obstructive; Migraine Disorders; Atrial Fibrillation|Inflammation; Chronic lymphocytic leukemia; Human Longevity; levels of antibodies to 60-kDa heat-shock proteins; recurrent pregnancy loss; Alzheimer's disease; Coronary Artery Disease|Inflammation; Leprosy; Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive; Graves Disease|Graves' Disease; Gastrointestinal Diseases|Henoch-Schoenlein Purpura|Joint Diseases|Kidney Diseases|Purpura, Schoenlein-Henoch; Acute Coronary Syndrome|Angina Pectoris|Inflammation; Osteoarthritis; bone mass; Sjogren's syndrome; lung transplant complications; SIDS/sudden infant death syndrome; Osteolysis|Prosthesis Failure; ischemic stroke; Cicatrix|Pyelonephritis|Urinary tract infection|Urinary Tract Infections; Angina, Unstable|Coronary Stenosis|Inflammation|Myocardial Infarction; Celiac Disease; HTLV-1 infection; patent ductus arteriosus; Cardiovascular Diseases|Polycystic Ovary Syndrome; ankylosing spondylitis; Waldenstrom macroglobulinaemia; Hodgkin lymphoma; Arthritis, Psoriatic|Psoriatic arthropathy; Cardiovascular Diseases|Peripheral Vascular Diseases; bone mineral density; sarcoidosis; graft-versus-host disease; diabetes, type 1; allograft rejection, heart; Nephrotic Syndrome; Cardiovascular Diseases|Inflammation; cytokine production; Diabetes Mellitus, Type 1; Kidney Diseases; Dengue Hemorrhagic Fever; Osteoarthritis, Hip; Infection|Postoperative Complications; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; Myesthenia Gravis; brucellosis; Critical Illness|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Inflammation|Myocardial Infarction; Cerebral Hemorrhage|Cerebral Hemorrhages|Cerebral Palsy|Infant, Premature, Diseases|Leukomalacia, Periventricular; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Apoplexy|Stroke; Cardiovascular Diseases|Lupus Erythematosus, Systemic; Ankylosing spondylitis; Kawasaki disease; Graves' disease; HIV; Brain Infarction|Inflammation; Intracranial Aneurysm; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; interleukin-6 plasma level ; Cardiovascular Diseases|Coronary Disease|Coronary heart disease|Insulin Resistance|Obesity; Bacterial Vaginosis|Premature Birth|Vaginosis, Bacterial; Infection|Thrombosis; Systemic lupus erythematosus; Gaucher disease; Multiple myeloma; stroke, ischemic; lung cancer; HIV Infections|HIV-Associated Lipodystrophy Syndrome; Dental Plaque|Gingivitis; Tuberculosis, Pulmonary; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Inflammation; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; kidney transplant; ovarian cancer; C-reactive protein cardiovascular disease risk factors insulin; subclinical carotid atherosclerosis; breast cancer; juvenile arthritis; Kidney Failure, Chronic; HIV Infections|Lipodystrophy; HTLV-I Infections; Chronic renal failure|Inflammation|Kidney Failure, Chronic|Malnutrition; bone resorption; dementia, multi-infarct; asthma; lipids; C-reactive protein; obesity; glucose; leptin; atopy; insulin; obesity; carotid atherosclerosis; Atrial Fibrillation|Postoperative Complications; Sepsis|Septic Shock|Shock, Septic|Systemic infection; Giant Cell Arteritis|Polymyalgia Rheumatica|Temporal Arteritis; Coronary Disease|Coronary heart disease|Hypercholesterolemia; Infection|Kidney Failure, Acute; Frailty in older women; smoking; hepatitis B; esophageal cancer ; Rhabdomyolysis; Otitis Media|Recurrence; Amyloidosis|Familial Mediterranean Fever; Hepatitis C|Recurrence; Q fever; inflammatory response, trauma induced; Fibrinogen plasma levels; Cachexia|Pancreatic Neoplasms; Genetic Predisposition to Disease|Multiple Myeloma; kidney transplantation; trypanosomiasis; cytomegalovirus; blood pressure; Takayasu's arteritis; Kaposi Sarcoma|Sarcoma, Kaposi; stroke; Intracranial Aneurysm|Subarachnoid Hemorrhage; Sepsis|Wounds and Injuries; cervical intraepithelial neoplasia grade 3; adenocarcinoma ; Helicobacter Infections; Atrial Fibrillation|Coronary Artery Disease; Sciatica; ageing; lipids; C-reactive protein; obesity; glucose; leptin; noncardia gastric cancer; Melanoma|Skin Neoplasms; systemic juvenile idiopathic arthritis; stomach cancer; thromboembolism, venous; heart disease; Hyperinsulinism; Endometriosis|Infertility, Female|Ovarian cyst, NOS|Ovarian Cysts; Carcinoma, Squamous Cell|Mouth Neoplasms; Inflamatory Bowel disease; Arthritis, Rheumatoid|Cardiovascular Diseases|Obesity; Hepatitis C, Chronic; preeclampsia; H. pylori infection; Celiac Disease|; Arthritis, Rheumatoid|Hypertension; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Peripheral Vascular Diseases; Prosthesis Failure; Diabetes mellitus|Myocardial Infarction; kidney failure; disc disease, intervertebral; Longevity; Parkinson's disease; proliferative vitreoretinopathy rhegmatogenous retinal detachment; paediatric renal allograft; Periodontitis; Brain Ischemia|Stroke; Infant, Premature, Diseases; diabetes, type 2; Coronary Heart Disease; atherosclerosis, carotid; Psoriasis; Sepsis|Systemic infection; lung cancer|asthma; Obesity|Weight Gain|Weight Loss; Hepatitis C; Waist Circumference; cirrhosis, biliary primary; stroke, hemorrhagic stroke, ischemic; aseptic loosening post hip replacement osteolysis; null; Aggressive Periodontitis; Common Cold|Otitis Media|Picornaviridae Infections; Fetal Death|Pre-Eclampsia|Pregnancy Complications|Premature Birth; Hepatitis B|Hepatitis C|Reperfusion Injury; Osteoarthritis, Hip|Osteoarthritis, Knee; Alveolar Bone Loss|Chronic Periodontitis|Dental Plaque|Gingival Hemorrhage|Gingival Recession|Periodontal Attachment Loss|Periodontal Pocket; Stroke; Stomach Neoplasms; hypertension; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperlipidemias; allergic rhinitis; longevity; arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI; pemphigus; fibrinogen myocardial infarct; obesity; Adenocarcinoma|Liver Neoplasms|Lymphatic Metastasis|Pancreatic Neoplasms|Pancreatitis, Chronic; Cardiovascular Diseases|; Inflammation|Lung Neoplasms|Neoplasm of lung |Postoperative Complications; Arteriosclerosis; Endometriosis; Fetal Death; renal transplantation, rejection after; acute rejection; Atherosclerosis|Inflammation|Retinal Vein Occlusion; bullous pemphigoid; Adenocarcinoma|Stomach Neoplasms; Obesity; Body Weight|Cardiovascular Diseases|Diabetes mellitus; Femoral Neck Fractures|Fractures, Stress; Alzheimer Disease|Alzheimer's Disease|Amnesia; Cardiovascular Diseases|Kidney Failure, Acute|Postoperative Complications|Pulmonary Disease, Chronic Obstructive; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Leukomalacia, Periventricular|Mental Retardation; psychological dimensions; Inflammation|Pulmonary Disease, Chronic Obstructive; Abortion, Spontaneous; Infection|Premature Birth; Metabolic Syndrome X; Waist-Hip Ratio; allograft dysfunction, renal; hepatitis C; plasma IL-6 levels; graft-vs-host disease; Cerebral Palsy; Arthritis, Rheumatoid|Corneal Diseases|Dry Eye Syndromes; Hip Fractures|Osteoporosis; Cachexia|Esophageal Neoplasms|Stomach Neoplasms; Arthritis, Rheumatoid; Colonic Neoplasms; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Apoplexy|Atherosclerosis|Inflammation|Stroke; Bone Diseases, Metabolic|Osteoporosis, Postmenopausal; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Inflammation|Obesity; Burns|Sepsis|Systemic infection; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; Gastritis|Helicobacter Infections; schizophrenia; parvovirus; Coronary Disease|Inflammation; Alzheimer Disease|Alzheimer's Disease|Drug-Induced Liver Injury|Liver Diseases; Glossitis, Benign Migratory; kidney disease; vascular disease; kidney cancer; non-Hodgkin lymphoma; Hemochromatosis; Hodgkin Disease|Inflammation; Acute Coronary Syndrome; Inflammation|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; hepatitis C, chronic; endometriosis; polycystic ovary syndrome; carotid plaque; bone marrow transplantation; diabetes, type 1 ; Graves ophthalmopathy; pulmonary fibrosis; Diabetes Mellitus, Type 2|Kidney Failure, Chronic; ADHD | attention deficit hyperactivity disorder; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Intolerance|Overweight; Esophageal Neoplasms; Carotid Artery Diseases|Inflammation; Bulimia; periodontitis; vascular disease; Multiple Myeloma; miscarriage; Diabetes Mellitus, Type 1|Periodontal Diseases; Arthritis, Rheumatoid|; Angina, Unstable|Coronary Thrombosis|Inflammation|Myocardial Infarction|Recurrence|Syndrome|Unstable angina; Dermatitis, Allergic Contact|Dermatitis, Atopic|Eczema allergic; Abortion, Habitual; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; kawasaki disease; Respiratory Distress Syndrome, Adult; Colonic Neoplasms|Microsatellite Instability; IL6 preterm delivery; Carcinoma, Hepatocellular|Diabetes Complications|Diabetes Mellitus|Inflammation|Liver Neoplasms; Carcinoma, Hepatocellular|Liver Cirrhosis|Liver Neoplasms; Chronic Periodontitis|Diabetes Complications|Diabetes Mellitus, Type 2; Irritable Bowel Syndrome; Choroidal Neovascularization|Macular Degeneration; Pulmonary Fibrosis; Asphyxia Neonatorum|Brain Ischemia|Hypoxia-Ischemia, Brain; Type 2 Diabetes| edema | rosiglitazone; Chagas Cardiomyopathy|Chagas Disease; Apoplexy|Brain Ischemia|Cerebral Hemorrhage|Cerebral Hemorrhages|Stroke Homozygous null mutants show impaired immune response to pathogens, decreased T cell numbers and resistance to plasma cell neoplasia. They are defective in wound healing and liver regeneration and show increased emotionality and high bone turnover rate. Post-translational protein phosphorylation GO:0001781;neutrophil apoptotic process;IDA|GO:0001878;response to yeast;IEA|GO:0002262;myeloid cell homeostasis;IEA|GO:0002384;hepatic immune response;IDA|GO:0002446;neutrophil mediated immunity;TAS|GO:0002526;acute inflammatory response;IEA|GO:0002548;monocyte chemotaxis;IC|GO:0002675;positive regulation of acute inflammatory response;IDA|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006953;acute-phase response;TAS|GO:0006954;inflammatory response;IDA|GO:0006955;immune response;IEA|GO:0006959;humoral immune response;IC|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0008360;regulation of cell shape;IEA|GO:0009408;response to heat;IEA|GO:0009409;response to cold;IEA|GO:0009611;response to wounding;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009617;response to bacterium;IEA|GO:0010574;regulation of vascular endothelial growth factor production;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010888;negative regulation of lipid storage;NAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0030168;platelet activation;TAS|GO:0031000;response to caffeine;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0031175;neuron projection development;IMP|GO:0031294;lymphocyte costimulation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031669;cellular response to nutrient levels;IEA|GO:0032494;response to peptidoglycan;NAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032868;response to insulin;IEA|GO:0032966;negative regulation of collagen biosynthetic process;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033160;positive regulation of protein import into nucleus, translocation;IEA|GO:0034097;response to cytokine;IEA|GO:0035729;cellular response to hepatocyte growth factor stimulus;IEA|GO:0042060;wound healing;IEA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0042110;T cell activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042593;glucose homeostasis;IEA|GO:0042832;defense response to protozoan;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043200;response to amino acid;IEA|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045079;negative regulation of chemokine biosynthetic process;IEA|GO:0045188;regulation of circadian sleep/wake cycle, non-REM sleep;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045454;cell redox homeostasis;IEA|GO:0045599;negative regulation of fat cell differentiation;NAS|GO:0045630;positive regulation of T-helper 2 cell differentiation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0045721;negative regulation of gluconeogenesis;IEA|GO:0045727;positive regulation of translation;IDA|GO:0045740;positive regulation of DNA replication;IEA|GO:0045765;regulation of angiogenesis;IC|GO:0045779;negative regulation of bone resorption;IEA|GO:0045837;negative regulation of membrane potential;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046427;positive regulation of JAK-STAT cascade;IDA|GO:0046677;response to antibiotic;IEA|GO:0046716;muscle cell cellular homeostasis;IEA|GO:0046849;bone remodeling;IEA|GO:0046888;negative regulation of hormone secretion;IEA|GO:0048635;negative regulation of muscle organ development;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050710;negative regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0050830;defense response to Gram-positive bacterium;TAS|GO:0050871;positive regulation of B cell activation;IDA|GO:0051024;positive regulation of immunoglobulin secretion;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051384;response to glucocorticoid;IDA|GO:0051592;response to calcium ion;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051607;defense response to virus;IDA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0051971;positive regulation of transmission of nerve impulse;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;IEA|GO:0070091;glucagon secretion;IEA|GO:0070102;interleukin-6-mediated signaling pathway;IDA|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0071864;positive regulation of cell proliferation in bone marrow;IEA|GO:0072540;T-helper 17 cell lineage commitment;IEA|GO:1901215;negative regulation of neuron death;IEA|GO:1990646;cellular response to prolactin;IEA|GO:2000366;positive regulation of STAT protein import into nucleus;IC|GO:2000553;positive regulation of T-helper 2 cell cytokine production;IEA|GO:2000660;negative regulation of interleukin-1-mediated signaling pathway;IEA|GO:2000676;positive regulation of type B pancreatic cell apoptotic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009897;external side of plasma membrane;IEA GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005138;interleukin-6 receptor binding;NAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IL6 https://www.uniprot.org/uniprot/P05231 https://hpo.jax.org/app/browse/search?q=IL6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147620 http://www.informatics.jax.org/searchtool/Search.do?query=IL6&submit=Quick%0D%7316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6 rs7802307 0.835463 0 0 1 0 0 upstream ncRNA_intronic ncRNA_intronic IL6 LOC541472 ENSG00000179428 Na Na Na Na Na Na Het;T>A 57;14|6 Het;T>A 358;7|10 Hom;T>A 808;0|22 N N - 7 22857589 22857589 T C snp intronic TOMM7 Tomm7 ENSG00000196683 translocase of outer mitochondrial membrane 7 chr7:22852251-22862470 This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression Pink/Parkin Mediated Mitophagy GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0031647;regulation of protein stability;IMP|GO:0045040;protein import into mitochondrial outer membrane;IBA|GO:0098779;positive regulation of macromitophagy in response to mitochondrial depolarization;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031307;integral component of mitochondrial outer membrane;IBA GO:0005515;protein binding;IPI|GO:0008320;protein transmembrane transporter activity;TAS|GO:0015266;protein channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TOMM7 https://www.ncbi.nlm.nih.gov/omim/?term=607980 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM7&submit=Quick%0D%16439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM7 rs7782015 0.784545 0.7038 0.6887 1 0 0 intronic intronic intronic TOMM7 TOMM7 ENSG00000196683 Na Na Na Na Na Na Het;T>C 179;20|10 Ref Hom;T>C 331;0|11 N N - 7 22862192 22862192 A G snp intronic TOMM7 Tomm7 ENSG00000196683 translocase of outer mitochondrial membrane 7 chr7:22852251-22862470 This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression Pink/Parkin Mediated Mitophagy GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0031647;regulation of protein stability;IMP|GO:0045040;protein import into mitochondrial outer membrane;IBA|GO:0098779;positive regulation of macromitophagy in response to mitochondrial depolarization;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031307;integral component of mitochondrial outer membrane;IBA GO:0005515;protein binding;IPI|GO:0008320;protein transmembrane transporter activity;TAS|GO:0015266;protein channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TOMM7 https://www.ncbi.nlm.nih.gov/omim/?term=607980 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM7&submit=Quick%0D%16439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM7 rs2270106 0.714657 0 0 1 0 0 intronic intronic intronic TOMM7 TOMM7 ENSG00000196683 Na Na Na Na Na Na Het;A>G 83;5|3 Ref Hom;A>G 189;0|6 N N - 7 22862467 22862467 G A snp UTR5 -69C>T TOMM7 Tomm7 ENSG00000196683 translocase of outer mitochondrial membrane 7 chr7:22852251-22862470 This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression Pink/Parkin Mediated Mitophagy GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0031647;regulation of protein stability;IMP|GO:0045040;protein import into mitochondrial outer membrane;IBA|GO:0098779;positive regulation of macromitophagy in response to mitochondrial depolarization;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031307;integral component of mitochondrial outer membrane;IBA GO:0005515;protein binding;IPI|GO:0008320;protein transmembrane transporter activity;TAS|GO:0015266;protein channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TOMM7 https://www.ncbi.nlm.nih.gov/omim/?term=607980 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM7&submit=Quick%0D%16439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM7 rs2270105 0.523762 0 0 1 0 0 UTR5 UTR5 UTR5 TOMM7(NM_019059:c.-69C>T) TOMM7(uc003svk.4:c.-69C>T) ENSG00000196683(ENST00000358435:c.-69C>T) Na Na Na Na Na Na Het;G>A 435;29|20 Ref Hom;G>A 1198;0|45 N N - 7 22896231 22896231 G C snp upstream SNORD93 rs1608553 0.759784 0.6486 0.6682 1 0 0 upstream upstream ncRNA_intronic SNORD93 SNORD93 ENSG00000228649 Na Na Na Na Na Na Het;G>C 1356;80|65 Het;G>C 1293;71|61 Hom;G>C 4853;0|173 N N - 7 22896340 22896341 AC A indel downstream SNORD93 rs5882865 0.639377 0 0.5995 1 0 0 downstream downstream ncRNA_intronic SNORD93 SNORD93 ENSG00000228649 Na Na Na Na Na Na Het;-C 1549;32|42 Het;-C 179;39|13 Hom;-C 3474;0|97 N N - 7 23221870 23221870 T C snp intronic NUPL2 Nupl2 ENSG00000136243 nucleoporin like 2 chr7:23221446-23240630 Tobacco Use Disorder tRNA processing in the nucleus GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006611;protein export from nucleus;IGI|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0003723;RNA binding;IDA|GO:0005049;nuclear export signal receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUPL2 https://www.uniprot.org/uniprot/O15504 http://www.informatics.jax.org/searchtool/Search.do?query=NUPL2&submit=Quick%0D%7315ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUPL2 rs7808488 0.419728 0.4499 0.3949 1 0 0 intronic intronic intronic NUPL2 NUPL2 ENSG00000136243,ENSG00000214871 Na Na Na Na Na Na Het;T>C 306;26|17 Ref Hom;T>C 937;0|35 N N - 7 23768907 23768907 A G snp intronic STK31 Stk31 ENSG00000196335 serine/threonine kinase 31 chr7:23749786-23872132 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Mental Competency; Insulin; Chronic renal failure|Kidney Failure, Chronic; Triglycerides; Tobacco Use Disorder; Monocytes; Heart Rate; Myocardial Infarction Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. GO:0006401;RNA catabolic process;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004518;nuclease activity;IBA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK31 https://www.ncbi.nlm.nih.gov/omim/?term=605790 http://www.informatics.jax.org/searchtool/Search.do?query=STK31&submit=Quick%0D%16322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK31 rs12176610 0.232228 0.1951 0.2692 1 0 0 intronic intronic intronic STK31 STK31 ENSG00000196335 Na Na Na Na Na Na Het;A>G 618;28|24 Ref Hom;A>G 1402;0|49 N N - 7 23808604 23808604 C A snp intronic STK31 Stk31 ENSG00000196335 serine/threonine kinase 31 chr7:23749786-23872132 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Mental Competency; Insulin; Chronic renal failure|Kidney Failure, Chronic; Triglycerides; Tobacco Use Disorder; Monocytes; Heart Rate; Myocardial Infarction Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. GO:0006401;RNA catabolic process;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004518;nuclease activity;IBA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK31 https://www.ncbi.nlm.nih.gov/omim/?term=605790 http://www.informatics.jax.org/searchtool/Search.do?query=STK31&submit=Quick%0D%16322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK31 rs61564984 0.279752 0.2508 0.2973 1 0 0 intronic intronic intronic STK31 STK31 ENSG00000196335 Na Na Na Na Na Na Het;C>A 732;47|34 Ref Hom;C>A 2846;0|100 N N - 7 23810523 23810523 C G snp intronic STK31 Stk31 ENSG00000196335 serine/threonine kinase 31 chr7:23749786-23872132 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Mental Competency; Insulin; Chronic renal failure|Kidney Failure, Chronic; Triglycerides; Tobacco Use Disorder; Monocytes; Heart Rate; Myocardial Infarction Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. GO:0006401;RNA catabolic process;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004518;nuclease activity;IBA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK31 https://www.ncbi.nlm.nih.gov/omim/?term=605790 http://www.informatics.jax.org/searchtool/Search.do?query=STK31&submit=Quick%0D%16322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK31 rs41273996 0.264177 0 0 1 0 0 intronic intronic intronic STK31 STK31 ENSG00000196335 Na Na Na Na Na Na Het;C>G 326;4|9 Ref Hom;C>G 637;0|16 N N - 7 2394746 2394746 T C snp nonsynonymous SNV T190C S64P polar,hydrophilic,neutral hydrophobic,neutral EIF3B Eif3b ENSG00000106263 eukaryotic translation initiation factor 3 subunit B chr7:2393721-2420380 Homozygous embryos die prenatally prior to the blastocyst stage. GTP hydrolysis and joining of the 60S ribosomal subunit GO:0001731;formation of translation preinitiation complex;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0075522;IRES-dependent viral translational initiation;IDA|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IEA|GO:0016282;eukaryotic 43S preinitiation complex;IEA|GO:0033290;eukaryotic 48S preinitiation complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0071541;eukaryotic translation initiation factor 3 complex, eIF3m;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0031369;translation initiation factor binding;IEA|GO:0032947;protein complex scaffold;TAS http://www.genecards.org/index.php?path=/Search/keyword/EIF3B https://www.uniprot.org/uniprot/P55884 https://www.ncbi.nlm.nih.gov/omim/?term=603917 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3B&submit=Quick%0D%3469ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3B rs9690787 0.751198 0 0.7901 0.08 1 13 exonic exonic exonic EIF3B EIF3B ENSG00000106263 nonsynonymous SNV nonsynonymous SNV unknown EIF3B:NM_001037283:exon1:c.T190C:p.S64P,EIF3B:NM_003751:exon1:c.T190C:p.S64P, EIF3B:uc003slz.1:exon1:c.T190C:p.S64P,EIF3B:uc003sly.3:exon1:c.T190C:p.S64P,EIF3B:uc003slx.3:exon1:c.T190C:p.S64P, UNKNOWN Het;T>C 114;8|6 Het;T>C 249;5|10 Hom;T>C 403;0|16 N N - 7 24324808 24324808 C G snp UTR5 -52C>G NPY Npy ENSG00000122585 neuropeptide Y chr7:24323782-24331484 This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014] progression of carotid atherosclerosis blood pressure and serum lipids; null; macular degeneration; obesity; alcoholism; cholesterol, HDL; triglycerides; coronary heart disease; cholesterol, LDL; cholesterol, total; Edema rosiglitazone or pioglitazone; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; atherosclerosis, coronary; diabetes, type 1; nephropathy in other diseases; alcohol consumption; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy; Body Mass Index; alcohol withdrawal; Cardiovascular Diseases|Overweight|Thinness; Stroke; depression; diabetes, type 2; glucose tolerance; metabolic syndrome; Body Weight; physical activity; Alcoholism; Insulin Resistance; atherosclerosis, coronary; Birth Weight|Body Weight; Obesity; Marijuana Abuse|Psychoses, Substance-Induced; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy; Hypercholesterolemia|Hyperlipidemias; glucose tolerance; insulin; vascular disease; cholesterol; Bone Mineral Density; Brain Ischemia|Stroke; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Schizophrenia; Arteriosclerosis|Coronary Disease|Coronary heart disease; Type 2 diabetes; diabetes, type 2; retinopathy, diabetic; Lymphoma, Non-Hodgkin; lipids; blood pressure; atherosclerosis, carotid; Amphetamine-Related Disorders; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; hypertension; Autism; Type 2 Diabetes| edema | rosiglitazone; body mass; Obesity, Morbid; Bulimia; esophageal adenocarcinoma; several psychiatric disorders; body mass leptin obesity, localized; Obesity|Weight Loss; Cardiovascular Diseases|; blood pressure, arterial cortisol glucose heart rate insulin leptin; Seizures, Febrile; diurnal sympathoadrenal balance and pituitary hormone secretion; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; C-Reactive Protein; alcohol; hypertension; birth weight and serum triglyceride concentration; diabetes, type 2 ghrelin insulin; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Alcoholism|Cocaine-Related Disorders|Substance Withdrawal Syndrome; atherosclerosis; Hypercholesterolemia|LDLC levels; schizophrenia; panic disorder; unipolar disorder; Apoplexy|Brain Ischemia|Stroke; bone density; alcohol dependence; alcohol abuse; Chronic renal failure|Kidney Failure, Chronic; lymphoma, non-Hodgkin; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; schizophrenia; Celiac Disease|; Hypercholesterolemia Mice homozygous for a null allele exhibit sporadic mild seizures and increased susceptibility to PTZ-induced seizures. Mice homozygous for a different null allele show hypoactivity and reduced exploratory behavior, an increased anxiety-related response in males, and increased defecation in females. G alpha (i) signalling events GO:0006816;calcium ion transport;TAS|GO:0006928;movement of cell or subcellular component;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007218;neuropeptide signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007586;digestion;NAS|GO:0007610;behavior;TAS|GO:0007631;feeding behavior;TAS|GO:0008015;blood circulation;NAS|GO:0008217;regulation of blood pressure;IEA|GO:0008283;cell proliferation;TAS|GO:0008343;adult feeding behavior;ISS|GO:0021954;central nervous system neuron development;IEP|GO:0021987;cerebral cortex development;IEP|GO:0031175;neuron projection development;IEP|GO:0032098;regulation of appetite;IBA|GO:0032100;positive regulation of appetite;ISS|GO:0065009;regulation of molecular function;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005623;cell;TAS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005102;receptor binding;TAS|GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;TAS|GO:0005246;calcium channel regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NPY https://www.uniprot.org/uniprot/P01303 https://www.ncbi.nlm.nih.gov/omim/?term=162640 http://www.informatics.jax.org/searchtool/Search.do?query=NPY&submit=Quick%0D%5429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPY rs16140 0.299321 0.2975 0 1 0 0 intronic intronic UTR5 NPY NPY ENSG00000122585(ENST00000405982:c.-52C>G) Na Na Na Na Na Na Het;C>G 830;16|32 Ref Hom;C>G 1125;0|38 N N - 7 25158246 25158246 C T snp downstream CYCS Cycs ENSG00000172115 cytochrome c, somatic chr7:25159710-25164980 This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010] Acquired Immunodeficiency Syndrome|Disease Progression; Thrombocytopenia Mice homozygous for a targeted mutation die at midgestation. By E8.5, homozygous null embryos exhibit a strikingly reduced size and are developmentally retarded. Respiratory electron transport GO:0006122;mitochondrial electron transport, ubiquinol to cytochrome c;TAS|GO:0006123;mitochondrial electron transport, cytochrome c to oxygen;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0007005;mitochondrion organization;TAS|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0034599;cellular response to oxidative stress;TAS|GO:0045333;cellular respiration;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0097193;intrinsic apoptotic signaling pathway;TAS GO:0000159;protein phosphatase type 2A complex;TAS|GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005758;mitochondrial intermembrane space;TAS|GO:0005829;cytosol;TAS|GO:0070469;respiratory chain;IEA GO:0004722;protein serine/threonine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;IEA|GO:0020037;heme binding;TAS|GO:0045155;electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYCS https://hpo.jax.org/app/browse/search?q=CYCS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123970 http://www.informatics.jax.org/searchtool/Search.do?query=CYCS&submit=Quick%0D%13084ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYCS rs4719799 0.75599 0 0 1 0 0 downstream downstream intergenic CYCS CYCS ENSG00000070882(dist=136993),ENSG00000172115(dist=1464) Na Na Na Na Na Na Het;C>T 344;2|14 Het;C>T 81;5|5 Hom;C>T 120;0|6 N N - 7 2551525 2551525 T C snp upstream LFNG Lfng ENSG00000106003 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase chr7:2552163-2568811 This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] spondylocostal dysostosis type 3 (SCDO3) Mice homozygous for a knock-out allele exhibit a short tail and abnormal rib, somite, and lung development. Mice homozygous mice exhibit reduced female fertility, abnormal hair cells, and abnormal axial skeleton morphology. Pre-NOTCH Processing in Golgi GO:0001541;ovarian follicle development;IEA|GO:0001756;somitogenesis;ISS|GO:0002315;marginal zone B cell differentiation;ISS|GO:0007275;multicellular organism development;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007389;pattern specification process;IEA|GO:0008593;regulation of Notch signaling pathway;ISS|GO:0009887;animal organ morphogenesis;NAS|GO:0014807;regulation of somitogenesis;IMP|GO:0030217;T cell differentiation;ISS|GO:0032092;positive regulation of protein binding;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:1902367;negative regulation of Notch signaling pathway involved in somitogenesis;ISS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;NAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA|GO:1903561;extracellular vesicle;IDA GO:0003674;molecular_function;ND|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0033829;O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LFNG https://www.uniprot.org/uniprot/Q8NES3 https://hpo.jax.org/app/browse/search?q=LFNG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602576 http://www.informatics.jax.org/searchtool/Search.do?query=LFNG&submit=Quick%0D%3432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LFNG rs2906137 0.846845 0 0 1 0 0 upstream upstream upstream LFNG LFNG ENSG00000106003 Na Na Na Na Na Na Het;T>C 87;2|4 Ref Hom;T>C 122;0|6 N N - 7 26300992 26300992 A C snp intergenic CBX3 Cbx3 ENSG00000122565 chromobox 3 chr7:26240782-26252976 At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011] Mice homozygous for a gene trap allele are infertile. Mice homozygous for a hypomorphic targeted allele exhibit partial postnatal lethality and male infertility. RNA Polymerase I Chain Elongation GO:0006338;chromatin remodeling;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0048511;rhythmic process;IEA GO:0000775;chromosome, centromeric region;IDA|GO:0000779;condensed chromosome, centromeric region;ISS|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;ISS|GO:0005637;nuclear inner membrane;NAS|GO:0005719;nuclear euchromatin;IDA|GO:0005720;nuclear heterochromatin;IDA|GO:0005819;spindle;IDA|GO:0031618;nuclear pericentric heterochromatin;ISS GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:1990226;histone methyltransferase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CBX3 https://www.uniprot.org/uniprot/Q13185 https://www.ncbi.nlm.nih.gov/omim/?term=604477 http://www.informatics.jax.org/searchtool/Search.do?query=CBX3&submit=Quick%0D%5426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBX3 rs7779678 0.322883 0 0 1 0 0 intergenic intergenic intergenic CBX3(dist=47765),SNX10(dist=30523) CBX3(dist=47765),SNX10(dist=30523) ENSG00000122565(dist=48016),ENSG00000232383(dist=14823) Na Na Na Na Na Na Het;A>C 153;4|5 Ref Hom;A>C 286;0|9 N N - 7 26386122 26386122 T A snp intronic SNX10 Snx10 ENSG00000086300 sorting nexin 10 chr7:26331541-26413949 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] Stroke; Hematocrit; Lipoproteins; Glucose; Hemoglobins; Parkinson Disease; Smoking; Triglycerides Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and premature death. GO:0006810;transport;IEA|GO:0006897;endocytosis;IBA|GO:0007032;endosome organization;IMP|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030316;osteoclast differentiation;ISS|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:0071539;protein localization to centrosome;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;IMP|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNX10 https://www.uniprot.org/uniprot/Q9Y5X0 https://hpo.jax.org/app/browse/search?q=SNX10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614780 http://www.informatics.jax.org/searchtool/Search.do?query=SNX10&submit=Quick%0D%1923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX10 rs3801891 0.503195 0.4087 0.4115 1 0 0 intronic intronic intronic SNX10 SNX10 ENSG00000086300 Na Na Na Na Na Na Het;T>A 1722;47|74 Het;T>A 1210;60|60 Hom;T>A 3279;0|127 N N - 7 26386154 26386154 T C snp intronic SNX10 Snx10 ENSG00000086300 sorting nexin 10 chr7:26331541-26413949 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] Stroke; Hematocrit; Lipoproteins; Glucose; Hemoglobins; Parkinson Disease; Smoking; Triglycerides Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and premature death. GO:0006810;transport;IEA|GO:0006897;endocytosis;IBA|GO:0007032;endosome organization;IMP|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030316;osteoclast differentiation;ISS|GO:0060271;cilium assembly;IMP|GO:0061512;protein localization to cilium;IMP|GO:0071539;protein localization to centrosome;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA GO:0005515;protein binding;IPI|GO:0005545;1-phosphatidylinositol binding;IMP|GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IEA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNX10 https://www.uniprot.org/uniprot/Q9Y5X0 https://hpo.jax.org/app/browse/search?q=SNX10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614780 http://www.informatics.jax.org/searchtool/Search.do?query=SNX10&submit=Quick%0D%1923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX10 rs3801890 0.525958 0.4212 0 1 0 0 intronic intronic intronic SNX10 SNX10 ENSG00000086300 Na Na Na Na Na Na Het;T>C 996;38|45 Het;T>C 407;40|23 Hom;T>C 2020;0|75 N N - 7 2649673 2649673 T C snp intronic IQCE Iqce ENSG00000106012 IQ motif containing E chr7:2598632-2654368 Acquired Immunodeficiency Syndrome|Disease Progression Activation of SMO GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQCE https://www.uniprot.org/uniprot/Q6IPM2 https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE rs3735108 0.435903 0.3757 0.4539 1 0 0 intronic intronic intronic IQCE IQCE ENSG00000106012 Na Na Na Na Na Na Het;T>C 1466;56|69 Het;T>C 753;59|37 Hom;T>C 2110;0|77 N N - 7 2649704 2649704 T G snp nonsynonymous SNV T1948G L650V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IQCE Iqce ENSG00000106012 IQ motif containing E chr7:2598632-2654368 Acquired Immunodeficiency Syndrome|Disease Progression Activation of SMO GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQCE https://www.uniprot.org/uniprot/Q6IPM2 https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE rs3735109 0 0.3820 0.4557 0.08 1 13 exonic exonic exonic IQCE IQCE ENSG00000106012 nonsynonymous SNV nonsynonymous SNV unknown IQCE:NM_152558:exon22:c.T1996G:p.L666V,IQCE:NM_001287501:exon20:c.T1801G:p.L601V, IQCE:uc003smk.4:exon21:c.T1948G:p.L650V,IQCE:uc003smn.4:exon20:c.T1801G:p.L601V,IQCE:uc003smo.4:exon22:c.T1996G:p.L666V, UNKNOWN Het;T>G 1730;72|84 Het;T>G 827;78|42 Hom;T>G 3053;0|115 N N - 7 2649819 2649819 C T snp UTR3 *23C>T IQCE Iqce ENSG00000106012 IQ motif containing E chr7:2598632-2654368 Acquired Immunodeficiency Syndrome|Disease Progression Activation of SMO GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQCE https://www.uniprot.org/uniprot/Q6IPM2 https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE rs3735110 0.440296 0.3771 0.4557 1 0 0 UTR3 UTR3 UTR3 IQCE(NM_152558:c.*23C>T,NM_001287501:c.*23C>T) IQCE(uc003smo.4:c.*23C>T,uc003smk.4:c.*23C>T,uc003smn.4:c.*23C>T) ENSG00000106012(ENST00000404984:c.*23C>T,ENST00000402050:c.*23C>T,ENST00000325997:c.*1888C>T) Na Na Na Na Na Na Het;C>T 756;37|35 Het;C>T 472;42|23 Hom;C>T 1818;0|65 N N - 7 26574666 26574666 A G snp ncRNA_exonic KIAA0087 rs730954 0.640575 0 0 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 KIAA0087 KIAA0087 ENSG00000122548(ENST00000242109:c.*1706T>C) Na Na Na Na Na Na Het;A>G 2259;71|94 Het;A>G 1474;118|75 Hom;A>G 3701;4|143 N N - 7 27064596 27064596 T C snp downstream TPM3P4 rs2428430 0.550519 0 0 1 0 0 intergenic intergenic downstream SKAP2(dist=160234),HOXA1(dist=68018) SKAP2(dist=29738),HOXA1(dist=68018) ENSG00000214869 Na Na Na Na Na Na Het;T>C 409;28|20 Het;T>C 538;19|23 Hom;T>C 1607;0|59 N N - 7 27065128 27065128 A AC indel downstream TPM3P4 rs70994619 0.509784 0 0 1 0 0 intergenic intergenic downstream SKAP2(dist=160766),HOXA1(dist=67486) SKAP2(dist=30270),HOXA1(dist=67486) ENSG00000214869 Na Na Na Na Na Na Het;+C 288;14|12 Het;+C 339;31|20 Hom;+C 831;2|26 N N - 7 27065984 27065984 G A snp intergenic SKAP2 Skap2 ENSG00000005020 src kinase associated phosphoprotein 2 chr7:26706681-27034858 The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1 Mice homozygous for a null allele are embryonic lethal. Homozygotes for a gene-trapped allele show impaired B-cell responses and B-cell adhesion, decreased susceptibility to EAE, abnormal dendritic cell physiology, fast extinction of fear memory, and impaired social memory. Signal regulatory protein family interactions GO:0002757;immune response-activating signal transduction;IBA|GO:0006461;protein complex assembly;TAS|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0042113;B cell activation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SKAP2 https://www.uniprot.org/uniprot/O75563 https://www.ncbi.nlm.nih.gov/omim/?term=605215 http://www.informatics.jax.org/searchtool/Search.do?query=SKAP2&submit=Quick%0D%341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SKAP2 rs2465263 0.507987 0 0 1 0 0 intergenic intergenic intergenic SKAP2(dist=161622),HOXA1(dist=66630) SKAP2(dist=31126),HOXA1(dist=66630) ENSG00000214869(dist=1458),ENSG00000213786(dist=21804) Na Na Na Na Na Na Het;G>A 779;41|36 Het;G>A 853;41|40 Hom;G>A 1856;0|67 N N - 7 27210428 27210428 A AG indel ncRNA_intronic HOXA-AS4 rs36075045 0.474042 0 0.4455 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic HOXA10-AS,HOXA10-HOXA9 HOXA-AS4,HOXA10-HOXA9 ENSG00000253187 Na Na Na Na Na Na Het;+G 1384;43|45 Het;+G 943;39|32 Hom;+G 3201;0|90 N N - 7 27210581 27210581 C CA indel ncRNA_intronic HOXA-AS4 rs34311813 0.379992 0 0.3957 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic HOXA10-AS,HOXA10-HOXA9 HOXA-AS4,HOXA10-HOXA9 ENSG00000253187 Na Na Na Na Na Na Het;+A 842;59|47 Het;+A 488;40|30 Hom;+A 1607;3|67 N N - 7 2740015 2740015 T G snp UTR5 -71T>G AMZ1 Amz1 ENSG00000174945 archaelysin family metallopeptidase 1 chr7:2719156-2815134 Body Height GO:0006508;proteolysis;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMZ1 https://www.ncbi.nlm.nih.gov/omim/?term=615168 http://www.informatics.jax.org/searchtool/Search.do?query=AMZ1&submit=Quick%0D%13607ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMZ1 rs798473 0.622404 0 0 1 0 0 UTR5 UTR5 UTR5 AMZ1(NM_133463:c.-71T>G,NM_001284355:c.-71T>G) AMZ1(uc003smr.1:c.-71T>G,uc003sms.1:c.-71T>G) ENSG00000174945(ENST00000312371:c.-71T>G,ENST00000407112:c.-71T>G) Na Na Na Na Na Na Het;T>G 319;14|12 Het;T>G 351;6|14 Hom;T>G 581;0|18 N N - 7 27498420 27498420 T C snp ncRNA_exonic EIF4HP1 rs10228450 0.654553 0 0 1 0 0 intergenic intergenic ncRNA_exonic EVX1(dist=210982),HIBADH(dist=66639) BC034444(dist=45910),HIBADH(dist=66639) ENSG00000233830 Na Na Na Na Na Na Het;T>C 2634;125|127 Ref Hom;T>C 6975;0|262 N N - 7 29167802 29167802 T G snp intronic CPVL Cpvl ENSG00000106066 carboxypeptidase, vitellogenic like chr7:29034847-29235067 The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance Mice homozygous for a transposon insertion allele die prior to birth. GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPVL https://www.uniprot.org/uniprot/Q9H3G5 https://www.ncbi.nlm.nih.gov/omim/?term=609780 http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL rs201240670 0.980032 0 0 1 0 0 intronic intronic intronic CPVL CPVL ENSG00000106066,ENSG00000106069 Na Na Na Na Na Na Het;T>G 288;2|8 Het;T>G 605;6|16 Hom;T>G 417;2|20 N N - 7 29167806 29167806 T G snp intronic CPVL Cpvl ENSG00000106066 carboxypeptidase, vitellogenic like chr7:29034847-29235067 The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance Mice homozygous for a transposon insertion allele die prior to birth. GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPVL https://www.uniprot.org/uniprot/Q9H3G5 https://www.ncbi.nlm.nih.gov/omim/?term=609780 http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL rs200254731 0.539936 0 0 1 0 0 intronic intronic intronic CPVL CPVL ENSG00000106066,ENSG00000106069 Na Na Na Na Na Na Het;T>G 291;2|7 Het;T>G 605;6|15 Hom;T>G 417;2|20 N N - 7 29167810 29167810 T G snp intronic CPVL Cpvl ENSG00000106066 carboxypeptidase, vitellogenic like chr7:29034847-29235067 The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance Mice homozygous for a transposon insertion allele die prior to birth. GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPVL https://www.uniprot.org/uniprot/Q9H3G5 https://www.ncbi.nlm.nih.gov/omim/?term=609780 http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL rs76353008 0.540535 0 0 1 0 0 intronic intronic intronic CPVL CPVL ENSG00000106066,ENSG00000106069 Na Na Na Na Na Na Het;T>G 251;2|7 Het;T>G 584;6|15 Hom;T>G 417;2|20 N N - 7 29167852 29167852 C T snp intronic CPVL Cpvl ENSG00000106066 carboxypeptidase, vitellogenic like chr7:29034847-29235067 The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Psychomotor Performance; diabetes related insulin traits; Behcets disease; Body Mass Index; Hemoglobin A, Glycosylated; Waist Circumference; Magnesium; Type 2 diabetes; Blood Pressure; Cognitive performance Mice homozygous for a transposon insertion allele die prior to birth. GO:0006508;proteolysis;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IBA|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPVL https://www.uniprot.org/uniprot/Q9H3G5 https://www.ncbi.nlm.nih.gov/omim/?term=609780 http://www.informatics.jax.org/searchtool/Search.do?query=CPVL&submit=Quick%0D%3445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPVL rs245859 0.955871 0 0 1 0 0 intronic intronic intronic CPVL CPVL ENSG00000106066,ENSG00000106069 Na Na Na Na Na Na Het;C>T 132;3|5 Het;C>T 323;3|13 Hom;C>T 575;0|21 N N - 7 29186576 29186576 A G snp splicing 273+1A>G CHN2 Chn2 ENSG00000106069 chimerin 2 chr7:29161890-29553944 This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014] Type 2 diabetes; coronary spastic angina; Asthma; Tobacco Use Disorder Mice homozygous for a targeted allele exhibit impaired infrapyramidal tract neuron prunning. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IBA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHN2 https://www.uniprot.org/uniprot/P52757 https://www.ncbi.nlm.nih.gov/omim/?term=602857 http://www.informatics.jax.org/searchtool/Search.do?query=CHN2&submit=Quick%0D%3446ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHN2 rs245881 0.832268 0 0.8149 0.18 2 11 splicing exonic exonic CHN2(NM_001293069:exon2:c.273+1A>G) CHN2 ENSG00000106069 Na nonsynonymous SNV unknown Na CHN2:uc011jzs.2:exon2:c.A274G:p.N92D, UNKNOWN Het;A>G 1492;66|67 Het;A>G 1387;53|62 Hom;A>G 3307;2|118 N N - 7 29924221 29924221 T C snp intronic WIPF3 Wipf3 ENSG00000122574 WAS/WASL interacting protein family member 3 chr7:29846102-29956682 The expressions of the CR16 protein and mRNA decrease markedly in the testis of patients with idiopathic azoospermia, indicating a correlation with the pathogenesis of azoospermia. Mice homozygous for a knock-out allele display impaired spermatogenesis, abnormal sperm head morphology, and significantly reduced male fertility. Female fertility is not affected. RHO GTPases Activate WASPs and WAVEs GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0003779;actin binding;IEA|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WIPF3 https://www.uniprot.org/uniprot/A6NGB9 https://www.ncbi.nlm.nih.gov/omim/?term=612432 http://www.informatics.jax.org/searchtool/Search.do?query=WIPF3&submit=Quick%0D%129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WIPF3 rs13310795 0.408347 0.4494 0.5263 1 0 0 intronic intronic intronic WIPF3 WIPF3 ENSG00000122574 Na Na Na Na Na Na Het;T>C 245;17|12 Het;T>C 352;24|19 Hom;T>C 986;0|37 N N - 7 30540399 30540399 G T snp intronic GGCT Ggct ENSG00000006625 gamma-glutamylcyclotransferase chr7:30536237-30591095 The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Glutathione synthesis and recycling GO:0001836;release of cytochrome c from mitochondria;IMP|GO:0006750;glutathione biosynthetic process;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003839;gamma-glutamylcyclotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GGCT https://www.uniprot.org/uniprot/O75223 https://www.ncbi.nlm.nih.gov/omim/?term=137170 http://www.informatics.jax.org/searchtool/Search.do?query=GGCT&submit=Quick%0D%410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCT rs38410 0.636581 0 0 1 0 0 intronic intronic intronic GGCT GGCT ENSG00000006625 Na Na Na Na Na Na Het;G>T 433;10|14 Ref Hom;G>T 619;0|19 N N - 7 30544360 30544360 G A snp UTR5 -35C>T GGCT Ggct ENSG00000006625 gamma-glutamylcyclotransferase chr7:30536237-30591095 The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Glutathione synthesis and recycling GO:0001836;release of cytochrome c from mitochondria;IMP|GO:0006750;glutathione biosynthetic process;TAS GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003839;gamma-glutamylcyclotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GGCT https://www.uniprot.org/uniprot/O75223 https://www.ncbi.nlm.nih.gov/omim/?term=137170 http://www.informatics.jax.org/searchtool/Search.do?query=GGCT&submit=Quick%0D%410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGCT rs38414 0.61262 0.6533 0.6659 1 0 0 UTR5 UTR5 UTR5 GGCT(NM_001199817:c.-35C>T,NM_001199816:c.-35C>T,NM_024051:c.-35C>T,NM_001199815:c.-35C>T) GGCT(uc022abe.1:c.-35C>T,uc003tbb.3:c.-35C>T,uc003tba.3:c.-35C>T,uc022abf.1:c.-35C>T) ENSG00000006625(ENST00000275428:c.-35C>T,ENST00000440082:c.-35C>T,ENST00000005374:c.-35C>T,ENST00000409144:c.-35C>T,ENST00000447901:c.-35C>T,ENST00000409390:c.-35C>T,ENST00000409436:c.-35C>T) Na Na Na Na Na Na Het;G>A 2383;134|113 Het;G>A 2242;130|109 Hom;G>A 5982;0|222 N N - 7 30562952 30562952 C G snp ncRNA_exonic AC005154.3 rs38441 0.543131 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_exonic GGCT(dist=18495),LOC401320(dist=25021) LOC401320 ENSG00000244480 Na Na Na Na Na Na Het;C>G 3082;149|127 Het;C>G 2662;93|108 Hom;C>G 6857;1|228 N N - 7 30563573 30563574 CT C indel ncRNA_exonic AC005154.3 rs35945119 0.599241 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_exonic GGCT(dist=19116),LOC401320(dist=24399) LOC401320 ENSG00000244480 Na Na Na Na Na Na Het;-T 240;18|19 Het;-T 247;14|19 Hom;-T 834;2|41 N N - 7 30588091 30588091 C T snp ncRNA_exonic LOC401320 rs38468 0.622005 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC401320 LOC401320 ENSG00000196295 Na Na Na Na Na Na Het;C>T 2014;104|90 Het;C>T 1307;106|68 Hom;C>T 3910;2|137 N N - 7 30588609 30588609 G A snp ncRNA_exonic LOC401320 rs38469 0.546925 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC401320 LOC401320 ENSG00000196295 Na Na Na Na Na Na Het;G>A 751;32|33 Het;G>A 621;42|31 Hom;G>A 2126;0|72 N N - 7 30589261 30589261 T C snp ncRNA_exonic LOC401320 rs4258 0.564097 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC401320 LOC401320 ENSG00000196295 Na Na Na Na Na Na Het;T>C 3130;110|138 Het;T>C 3316;125|150 Hom;T>C 6991;2|254 N N - 7 30601422 30601441 TTGCATGGGAACACTGTCTA T indel ncRNA_exonic LOC401320 rs67735311 0.5623 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC401320 LOC401320 ENSG00000196295 Na Na Na Na Na Na Het;-TGCATGGGAACACTGTCTA 2983;136|83 Het;-TGCATGGGAACACTGTCTA 2816;89|76 Hom;-TGCATGGGAACACTGTCTA 5985;0|137 N N - 7 30634661 30634661 C G snp nonsynonymous SNV C124G P42A hydrophobic,neutral aliphatic,hydrophobic,neutral GARS Gars ENSG00000106105 glycyl-tRNA synthetase chr7:30634297-30673649 This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GARS https://www.uniprot.org/uniprot/P41250 https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600287 http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS rs1049402 0.649361 0.7399 0.7030 0.08 1 13 exonic exonic exonic GARS GARS ENSG00000106105 nonsynonymous SNV nonsynonymous SNV unknown GARS:NM_002047:exon1:c.C124G:p.P42A, GARS:uc003tbm.3:exon1:c.C124G:p.P42A, UNKNOWN Het;C>G 414;12|16 Het;C>G 322;19|16 Hom;C>G 520;0|20 N N - 7 30643069 30643069 C A snp intronic GARS Gars ENSG00000106105 glycyl-tRNA synthetase chr7:30634297-30673649 This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GARS https://www.uniprot.org/uniprot/P41250 https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600287 http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS rs1558064 0.399161 0.4914 0.5518 1 0 0 intronic intronic intronic GARS GARS ENSG00000106105 Na Na Na Na Na Na Het;C>A 1068;60|48 Het;C>A 1418;61|65 Hom;C>A 3127;0|117 N N - 7 30651938 30651938 G A snp intronic GARS Gars ENSG00000106105 glycyl-tRNA synthetase chr7:30634297-30673649 This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GARS https://www.uniprot.org/uniprot/P41250 https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600287 http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS rs1986756 0.745008 0 0 1 0 0 intronic intronic intronic GARS GARS ENSG00000106105 Na Na Na Na Na Na Het;G>A 295;22|12 Het;G>A 83;15|6 Hom;G>A 728;0|24 N N - 7 30660938 30660938 A C snp intronic GARS Gars ENSG00000106105 glycyl-tRNA synthetase chr7:30634297-30673649 This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GARS https://www.uniprot.org/uniprot/P41250 https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600287 http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS rs10951271 0.319289 0 0 1 0 0 intronic intronic intronic GARS GARS ENSG00000106105 Na Na Na Na Na Na Het;A>C 538;27|20 Ref Hom;A>C 1229;1|39 N N - 7 30662237 30662237 G A snp intronic GARS Gars ENSG00000106105 glycyl-tRNA synthetase chr7:30634297-30673649 This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GARS https://www.uniprot.org/uniprot/P41250 https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600287 http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS rs10249885 0.404353 0 0 1 0 0 intronic intronic intronic GARS GARS ENSG00000106105 Na Na Na Na Na Na Het;G>A 300;4|10 Het;G>A 131;2|5 Hom;G>A 196;0|6 N N - 7 30673345 30673345 C T snp intronic GARS Gars ENSG00000106105 glycyl-tRNA synthetase chr7:30634297-30673649 This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Charcot-Marie-Tooth Disease; Chronic renal failure|Kidney Failure, Chronic; Acquired Immunodeficiency Syndrome|Disease Progression A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. Mitochondrial tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006426;glycyl-tRNA aminoacylation;IBA|GO:0015966;diadenosine tetraphosphate biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0030141;secretory granule;IEA|GO:0030424;axon;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IEA GO:0000166;nucleotide binding;IEA|GO:0004081;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004820;glycine-tRNA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016874;ligase activity;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GARS https://www.uniprot.org/uniprot/P41250 https://hpo.jax.org/app/browse/search?q=GARS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600287 http://www.informatics.jax.org/searchtool/Search.do?query=GARS&submit=Quick%0D%3454ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARS rs2240401 0.404153 0.4898 0.5525 1 0 0 intronic intronic intronic GARS GARS ENSG00000106105 Na Na Na Na Na Na Het;C>T 643;33|27 Het;C>T 585;39|26 Hom;C>T 1477;2|55 N N - 7 30694260 30694260 C T snp intronic CRHR2 Crhr2 ENSG00000106113 corticotropin releasing hormone receptor 2 chr7:30692200-30739745 The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] Birth Weight|Premature Birth; Vaginosis, Bacterial; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; suicide; Hypercholesterolemia|LDLC levels; Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; major depression; depression; BMI- Edema rosiglitazone or pioglitazone; bronchodilator response; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; alcohol consumption; Infection|Inflammation|Premature Birth; Bulimia; hepatitis C; liver cancer; personality traits; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; Inflammation|Premature Birth; panic disorder; asthma; several psychiatric disorders; diabetes, type 2; null; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Bone Mineral Density; obesity Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. Synthesis, secretion, and deacylation of Ghrelin GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0071376;cellular response to corticotropin-releasing hormone stimulus;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0015056;corticotrophin-releasing factor receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CRHR2 https://www.uniprot.org/uniprot/Q13324 https://www.ncbi.nlm.nih.gov/omim/?term=602034 http://www.informatics.jax.org/searchtool/Search.do?query=CRHR2&submit=Quick%0D%3455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRHR2 rs3779250 0.398962 0 0 1 0 0 intronic intronic intronic CRHR2 CRHR2 ENSG00000106113 Na Na Na Na Na Na Het;C>T 437;14|17 Het;C>T 293;13|12 Hom;C>T 1089;0|32 N N - 7 30726959 30726959 G A snp intronic CRHR2 Crhr2 ENSG00000106113 corticotropin releasing hormone receptor 2 chr7:30692200-30739745 The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] Birth Weight|Premature Birth; Vaginosis, Bacterial; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; suicide; Hypercholesterolemia|LDLC levels; Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; major depression; depression; BMI- Edema rosiglitazone or pioglitazone; bronchodilator response; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; alcohol consumption; Infection|Inflammation|Premature Birth; Bulimia; hepatitis C; liver cancer; personality traits; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; Inflammation|Premature Birth; panic disorder; asthma; several psychiatric disorders; diabetes, type 2; null; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Bone Mineral Density; obesity Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. Synthesis, secretion, and deacylation of Ghrelin GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0071376;cellular response to corticotropin-releasing hormone stimulus;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0015056;corticotrophin-releasing factor receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CRHR2 https://www.uniprot.org/uniprot/Q13324 https://www.ncbi.nlm.nih.gov/omim/?term=602034 http://www.informatics.jax.org/searchtool/Search.do?query=CRHR2&submit=Quick%0D%3455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRHR2 rs255097 0.396565 0 0 1 0 0 intronic intronic intronic CRHR2 CRHR2 ENSG00000106113 Na Na Na Na Na Na Het;G>A 111;5|4 Het;G>A 107;4|4 Hom;G>A 294;0|8 N N - 7 30728908 30728908 A T snp intronic CRHR2 Crhr2 ENSG00000106113 corticotropin releasing hormone receptor 2 chr7:30692200-30739745 The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] Birth Weight|Premature Birth; Vaginosis, Bacterial; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; suicide; Hypercholesterolemia|LDLC levels; Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; major depression; depression; BMI- Edema rosiglitazone or pioglitazone; bronchodilator response; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; alcohol consumption; Infection|Inflammation|Premature Birth; Bulimia; hepatitis C; liver cancer; personality traits; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; Inflammation|Premature Birth; panic disorder; asthma; several psychiatric disorders; diabetes, type 2; null; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Bone Mineral Density; obesity Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. Synthesis, secretion, and deacylation of Ghrelin GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0071376;cellular response to corticotropin-releasing hormone stimulus;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0015056;corticotrophin-releasing factor receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CRHR2 https://www.uniprot.org/uniprot/Q13324 https://www.ncbi.nlm.nih.gov/omim/?term=602034 http://www.informatics.jax.org/searchtool/Search.do?query=CRHR2&submit=Quick%0D%3455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRHR2 rs255100 0.380591 0 0.4957 1 0 0 intronic intronic intronic CRHR2 CRHR2 ENSG00000106113 Na Na Na Na Na Na Het;A>T 1682;74|74 Het;A>T 1935;96|89 Hom;A>T 3760;0|142 N N - 7 30739525 30739525 G A snp intronic CRHR2 Crhr2 ENSG00000106113 corticotropin releasing hormone receptor 2 chr7:30692200-30739745 The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] Birth Weight|Premature Birth; Vaginosis, Bacterial; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; suicide; Hypercholesterolemia|LDLC levels; Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; major depression; depression; BMI- Edema rosiglitazone or pioglitazone; bronchodilator response; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; alcohol consumption; Infection|Inflammation|Premature Birth; Bulimia; hepatitis C; liver cancer; personality traits; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; Inflammation|Premature Birth; panic disorder; asthma; several psychiatric disorders; diabetes, type 2; null; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Bone Mineral Density; obesity Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. Synthesis, secretion, and deacylation of Ghrelin GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0071376;cellular response to corticotropin-releasing hormone stimulus;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0015056;corticotrophin-releasing factor receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CRHR2 https://www.uniprot.org/uniprot/Q13324 https://www.ncbi.nlm.nih.gov/omim/?term=602034 http://www.informatics.jax.org/searchtool/Search.do?query=CRHR2&submit=Quick%0D%3455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRHR2 rs255119 0.377596 0 0.5395 1 0 0 intronic intronic intronic CRHR2 CRHR2 ENSG00000106113 Na Na Na Na Na Na Het;G>A 379;14|18 Ref Hom;G>A 843;0|32 N N - 7 31246330 31246330 T C snp intergenic ADCYAP1R1 Adcyap1r1 ENSG00000078549 ADCYAP receptor type I chr7:31092076-31151089 This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010] Exercise Test; Macular Degeneration; Attention Deficit Disorder with Hyperactivity; several psychiatric disorders; Triglycerides; bronchodilator response; Depressive Disorder, Major; Electrocardiography Homozygotes for targeted mutations affect contextual fear conditioning, elevated locomotor activity, anxiety-like behavior, susceptibility to endotoxic shock, circadian responses to a photic stimulus, and glucose tolerance. Some alleles affect female fertility. Glucagon-type ligand receptors GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IEA|GO:0019933;cAMP-mediated signaling;IEA|GO:0030154;cell differentiation;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0032355;response to estradiol;IEA|GO:0033555;multicellular organismal response to stress;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0046545;development of primary female sexual characteristics;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0005923;bicellular tight junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043235;receptor complex;IDA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004999;vasoactive intestinal polypeptide receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0030306;ADP-ribosylation factor binding;IEA|GO:0042923;neuropeptide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCYAP1R1 https://www.uniprot.org/uniprot/P41586 https://www.ncbi.nlm.nih.gov/omim/?term=102981 http://www.informatics.jax.org/searchtool/Search.do?query=ADCYAP1R1&submit=Quick%0D%1664ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCYAP1R1 rs12701064 0.268371 0 0 1 0 0 intergenic intergenic intergenic ADCYAP1R1(dist=95237),NEUROD6(dist=130745) ADCYAP1R1(dist=95237),NEUROD6(dist=130745) ENSG00000232887(dist=87144),ENSG00000221751(dist=110282) Na Na Na Na Na Na Het;T>C 1078;30|52 Ref Hom;T>C 1993;0|75 N N - 7 31296474 31296474 T C snp intergenic ADCYAP1R1 Adcyap1r1 ENSG00000078549 ADCYAP receptor type I chr7:31092076-31151089 This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010] Exercise Test; Macular Degeneration; Attention Deficit Disorder with Hyperactivity; several psychiatric disorders; Triglycerides; bronchodilator response; Depressive Disorder, Major; Electrocardiography Homozygotes for targeted mutations affect contextual fear conditioning, elevated locomotor activity, anxiety-like behavior, susceptibility to endotoxic shock, circadian responses to a photic stimulus, and glucose tolerance. Some alleles affect female fertility. Glucagon-type ligand receptors GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010524;positive regulation of calcium ion transport into cytosol;IEA|GO:0019933;cAMP-mediated signaling;IEA|GO:0030154;cell differentiation;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0032355;response to estradiol;IEA|GO:0033555;multicellular organismal response to stress;IEA|GO:0042493;response to drug;IEA|GO:0045471;response to ethanol;IEA|GO:0046545;development of primary female sexual characteristics;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0005923;bicellular tight junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043235;receptor complex;IDA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004999;vasoactive intestinal polypeptide receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008179;adenylate cyclase binding;IEA|GO:0030306;ADP-ribosylation factor binding;IEA|GO:0042923;neuropeptide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCYAP1R1 https://www.uniprot.org/uniprot/P41586 https://www.ncbi.nlm.nih.gov/omim/?term=102981 http://www.informatics.jax.org/searchtool/Search.do?query=ADCYAP1R1&submit=Quick%0D%1664ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCYAP1R1 rs13243960 0.228035 0 0 1 0 0 intergenic intergenic intergenic ADCYAP1R1(dist=145381),NEUROD6(dist=80601) ADCYAP1R1(dist=145381),NEUROD6(dist=80601) ENSG00000232887(dist=137288),ENSG00000221751(dist=60138) Na Na Na Na Na Na Het;T>C 161;3|5 Ref Hom;T>C 192;0|6 N N - 7 31681765 31681765 C T snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs10239388 0.728834 0.7218 0.7745 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;C>T 1345;56|63 Ref Hom;C>T 3308;0|123 N N - 7 31682122 31682122 G A snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs38395 0.975439 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;G>A 36;5|3 Het;G>A 31;5|2 Hom;G>A 132;0|4 N N - 7 31682453 31682453 C T snp nonsynonymous SNV C1469T A490V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs4141001 0.728834 0.7124 0.7685 0.15 2 13 exonic exonic exonic CCDC129 CCDC129 ENSG00000180347 nonsynonymous SNV nonsynonymous SNV unknown CCDC129:NM_001257968:exon11:c.C1547T:p.A516V,CCDC129:NM_001257967:exon12:c.C1499T:p.A500V,CCDC129:NM_194300:exon10:c.C1469T:p.A490V, CCDC129:uc003tcj.1:exon11:c.C1469T:p.A490V,CCDC129:uc011kae.3:exon11:c.C1547T:p.A516V,CCDC129:uc003tci.1:exon11:c.C1022T:p.A341V,CCDC129:uc011kad.1:exon12:c.C1499T:p.A500V,CCDC129:uc003tck.1:exon9:c.C1193T:p.A398V, UNKNOWN Het;C>T 2618;144|112 Ref Hom;C>T 5306;1|188 N N - 7 31683410 31683410 G A snp nonsynonymous SNV G2426A C809Y polar,hydrophobic,neutral aromatic,polar,hydrophobic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs10247620 0.76278 0.7534 0.7796 0.46 6 13 exonic exonic exonic CCDC129 CCDC129 ENSG00000180347 nonsynonymous SNV nonsynonymous SNV unknown CCDC129:NM_001257968:exon11:c.G2504A:p.C835Y,CCDC129:NM_001257967:exon12:c.G2456A:p.C819Y,CCDC129:NM_194300:exon10:c.G2426A:p.C809Y, CCDC129:uc003tcj.1:exon11:c.G2426A:p.C809Y,CCDC129:uc011kae.3:exon11:c.G2504A:p.C835Y,CCDC129:uc003tci.1:exon11:c.G1979A:p.C660Y,CCDC129:uc011kad.1:exon12:c.G2456A:p.C819Y,CCDC129:uc003tck.1:exon9:c.G2150A:p.C717Y, UNKNOWN Het;G>A 4006;216|181 Ref Hom;G>A 9753;0|363 N N - 7 31683610 31683610 G A snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs38398 0.975439 0.9812 0.9780 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;G>A 578;31|25 Het;G>A 971;24|39 Hom;G>A 1643;0|57 N N - 7 31691381 31691382 GT G indel intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs138035443 0.382987 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;-T 48;1|4 Ref Hom;-T 62;0|4 N N - 7 31691697 31691697 T C snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs3735424 0.755591 0.7518 0.7848 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;T>C 1052;28|42 Ref Hom;T>C 1904;0|64 N N - 7 31692970 31692970 T A snp UTR3 *527T>A CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs2159513 0.787141 0 0 1 0 0 UTR3 UTR3 UTR3 CCDC129(NM_001257967:c.*527T>A,NM_194300:c.*527T>A) CCDC129(uc011kad.1:c.*527T>A,uc003tci.1:c.*527T>A,uc003tcj.1:c.*527T>A) ENSG00000180347(ENST00000319386:c.*527T>A) Na Na Na Na Na Na Het;T>A 499;24|21 Ref Hom;T>A 1328;0|52 N N - 7 31693381 31693381 G A snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs12537606 0.755591 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;G>A 821;48|38 Ref Hom;G>A 1535;0|56 N N - 7 31693665 31693665 T A snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs12530501 0.755791 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;T>A 1118;41|41 Ref Hom;T>A 2630;0|63 N N - 7 31694376 31694376 A G snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs11763622 0.723442 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;A>G 2068;70|80 Ref Hom;A>G 4721;0|160 N N - 7 31694835 31694835 T C snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs27331 0.948283 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;T>C 2511;102|111 Het;T>C 2107;84|85 Hom;T>C 4320;0|150 N N - 7 31695244 31695244 C T snp intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs1860540 0.720048 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;C>T 1603;62|71 Ref Hom;C>T 3423;0|125 N N - 7 31695611 31695611 C T snp UTR3 *225C>T CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs7456531 0.756789 0 0 1 0 0 intronic UTR3 UTR3 CCDC129 CCDC129(uc003tck.1:c.*225C>T) ENSG00000180347(ENST00000409210:c.*225C>T) Na Na Na Na Na Na Het;C>T 2874;112|117 Ref Hom;C>T 5164;0|190 N N - 7 31695814 31695814 T C snp UTR3 *428T>C CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs2191332 0.784345 0 0 1 0 0 intronic UTR3 UTR3 CCDC129 CCDC129(uc003tck.1:c.*428T>C) ENSG00000180347(ENST00000409210:c.*428T>C) Na Na Na Na Na Na Het;T>C 3306;106|133 Ref Hom;T>C 7944;2|284 N N - 7 31696145 31696145 A ACT indel intronic CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs3078499 0 0 0 1 0 0 intronic intronic intronic CCDC129 CCDC129 ENSG00000180347 Na Na Na Na Na Na Het;+CT 1181;48|33 Ref Hom;+CT 3395;2|80 N N - 7 31697913 31697913 C CT indel frameshift substitution 3096_3096delinsCT CCDC129 Ccdc129 ENSG00000180347 coiled-coil domain containing 129 chr7:31553704-31698334 Tobacco Use Disorder; Body Fat Distribution GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCDC129 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC129&submit=Quick%0D%14467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC129 rs35589779 0.359225 0 0.3875 1 0 0 exonic exonic exonic CCDC129 CCDC129 ENSG00000180347 frameshift substitution frameshift substitution unknown CCDC129:NM_001257968:exon15:c.3096_3096delinsCT, CCDC129:uc011kae.3:exon15:c.3096_3096delinsCT, UNKNOWN Het;+T 274;36|18 Ref Hom;+T 1422;9|65 N N - 7 31735297 31735297 T G snp intronic PPP1R17 Ppp1r17 ENSG00000106341 protein phosphatase 1 regulatory subunit 17 chr7:31726329-31748069 The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] hypercholesterolemia; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit normal retina. GO:0007417;central nervous system development;NAS|GO:0010921;regulation of phosphatase activity;ISS|GO:0035556;intracellular signal transduction;NAS|GO:0043086;negative regulation of catalytic activity;IEA GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;IEA|GO:0019212;phosphatase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R17 https://www.uniprot.org/uniprot/O96001 https://www.ncbi.nlm.nih.gov/omim/?term=604088 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R17&submit=Quick%0D%3484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R17 rs34174 0.490415 0 0 1 0 0 intronic intronic intronic PPP1R17 PPP1R17 ENSG00000106341 Na Na Na Na Na Na Het;T>G 1033;31|43 Ref Hom;T>G 1721;3|60 N N - 7 31735315 31735315 T C snp intronic PPP1R17 Ppp1r17 ENSG00000106341 protein phosphatase 1 regulatory subunit 17 chr7:31726329-31748069 The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] hypercholesterolemia; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit normal retina. GO:0007417;central nervous system development;NAS|GO:0010921;regulation of phosphatase activity;ISS|GO:0035556;intracellular signal transduction;NAS|GO:0043086;negative regulation of catalytic activity;IEA GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0004865;protein serine/threonine phosphatase inhibitor activity;IEA|GO:0019212;phosphatase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R17 https://www.uniprot.org/uniprot/O96001 https://www.ncbi.nlm.nih.gov/omim/?term=604088 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R17&submit=Quick%0D%3484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R17 rs79503171 0.0495208 0 0 1 0 0 intronic intronic intronic PPP1R17 PPP1R17 ENSG00000106341 Na Na Na Na Na Na Het;T>C 747;21|29 Ref Hom;T>C 1177;1|39 N N - 7 3180550 3180550 C CT indel UTR3 *174G>AG AC073316.1 rs11374295 0.56869 0 0.4259 1 0 0 downstream intergenic UTR3 LOC100129603 CARD11(dist=97041),BC038729(dist=6079) ENSG00000217455(ENST00000402115:c.*174G>AG) Na Na Na Na Na Na Het;+T 114;4|9 Het;+T 134;3|11 Hom;+T 197;2|12 N N - 7 32338337 32338337 G A snp nonsynonymous SNV C11T A4V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PDE1C Pde1c ENSG00000154678 phosphodiesterase 1C chr7:31790793-32338941 This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016] Lipoproteins, VLDL; Arteries; Tobacco Use Disorder; Smoking; Erythrocytes; Tunica Media; Glucose; Celiac Disease|; Apolipoproteins B; Triglycerides Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination. Cam-PDE 1 activation GO:0007165;signal transduction;IEA|GO:0007608;sensory perception of smell;IEA GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004117;calmodulin-dependent cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE1C https://www.uniprot.org/uniprot/Q14123 https://hpo.jax.org/app/browse/search?q=PDE1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602987 http://www.informatics.jax.org/searchtool/Search.do?query=PDE1C&submit=Quick%0D%9795ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE1C rs215607 0.784545 0.75 0.8061 0.38 5 13 exonic exonic exonic PDE1C PDE1C ENSG00000154678 nonsynonymous SNV nonsynonymous SNV unknown PDE1C:NM_001191058:exon1:c.C11T:p.A4V, PDE1C:uc003tco.2:exon1:c.C11T:p.A4V, UNKNOWN Het;G>A 1007;45|51 Het;G>A 967;27|44 Hom;G>A 1283;0|50 N N - 7 32956338 32956338 C G snp downstream RP9P rs3801335 0.698882 0 0 1 0 0 downstream intronic intronic RP9P AVL9 ENSG00000105778 Na Na Na Na Na Na Het;C>G 651;22|28 Het;C>G 521;23|24 Hom;C>G 1033;0|40 N N - 7 32956941 32956941 C T snp ncRNA_exonic RP9P rs2278817 0.328874 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic RP9P RP9P(uc011kaj.3:c.*268G>A) ENSG00000205763 Na Na Na Na Na Na Het;C>T 1624;101|77 Het;C>T 1829;76|85 Hom;C>T 2399;4|97 N N - 7 32961023 32961023 A G snp nonsynonymous SNV T178C W60R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) RP9P rs2893440 0.691693 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic RP9P RP9P ENSG00000205763 Na nonsynonymous SNV Na Na RP9P:uc011kaj.3:exon3:c.T178C:p.W60R, Na Het;A>G 1096;51|50 Het;A>G 882;63|45 Hom;A>G 2866;0|111 N N - 7 33059407 33059407 A G snp intronic NT5C3A Nt5c3 ENSG00000122643 5'-nucleotidase, cytosolic IIIA chr7:33053742-33102409 This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012] Acquired Immunodeficiency Syndrome|Disease Progression Pyrimidine catabolism GO:0006213;pyrimidine nucleoside metabolic process;NAS|GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0046085;adenosine metabolic process;IEA|GO:0046135;pyrimidine nucleoside catabolic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0008253;5'-nucleotidase activity;EXP|GO:0008665;2'-phosphotransferase activity;NAS|GO:0016740;transferase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5C3A https://www.uniprot.org/uniprot/Q9H0P0 https://hpo.jax.org/app/browse/search?q=NT5C3A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606224 http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3A&submit=Quick%0D%5434ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3A rs2392209 0.76897 0 0 1 0 0 intronic intronic intronic NT5C3A AVL9,NT5C3A ENSG00000105778,ENSG00000122643 Na Na Na Na Na Na Het;A>G 130;13|6 Het;A>G 195;3|6 Hom;A>G 436;0|14 N N - 7 33168887 33168887 T G snp UTR5 -16978T>G BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs10259915 0.195487 0 0 1 0 0 upstream upstream UTR5 BBS9 BBS9 ENSG00000122507(ENST00000432983:c.-16978T>G) Na Na Na Na Na Na Het;T>G 167;22|8 Ref Hom;T>G 455;0|15 N N - 7 33169258 33169258 C G snp UTR5 -16607C>G BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs3750123 0.157947 0 0 1 0 0 UTR5 UTR5 UTR5 BBS9(NM_014451:c.-16607C>G,NM_001033604:c.-16607C>G,NM_001033605:c.-16607C>G,NM_198428:c.-16607C>G) BBS9(uc003tdn.1:c.-16607C>G,uc003tdo.1:c.-16607C>G,uc003tdp.1:c.-16607C>G,uc003tdq.1:c.-16607C>G) ENSG00000122507(ENST00000242067:c.-16607C>G,ENST00000425508:c.-23078C>G,ENST00000354265:c.-16607C>G,ENST00000355070:c.-16607C>G,ENST00000396127:c.-16607C>G,ENST00000350941:c.-16607C>G,ENST00000433714:c.-16607C>G) Na Na Na Na Na Na Het;C>G 3044;128|118 Ref Hom;C>G 7183;2|252 N N - 7 33169660 33169660 T C snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs1468797 0.148762 0 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;T>C 1228;39|48 Ref Hom;T>C 2468;0|96 N N - 7 33186065 33186065 T G snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs77462109 0.153155 0 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;T>G 575;23|16 Ref Hom;T>G 1280;0|31 N N - 7 33186066 33186066 T A snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs116927029 0.153155 0 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;T>A 575;23|16 Ref Hom;T>A 1280;0|29 N N - 7 33192502 33192502 A G snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs17169881 0.157548 0.1555 0.1885 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;A>G 1206;49|50 Ref Hom;A>G 2843;2|105 N N - 7 33192591 33192591 G T snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs10241188 0.153155 0 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;G>T 329;16|13 Ref Hom;G>T 902;0|32 N N - 7 33195119 33195119 G A snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs12701275 0.157548 0 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;G>A 71;3|3 Ref Hom;G>A 123;0|4 N N - 7 33304107 33304107 A G snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs7810388 0.131989 0 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;A>G 188;16|8 Ref Hom;A>G 675;0|23 N N - 7 33388713 33388713 G A snp nonsynonymous SNV G1363A A455T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs11773504 0.171326 0.1755 0.2042 0.15 2 13 exonic exonic exonic BBS9 BBS9 ENSG00000122507 nonsynonymous SNV nonsynonymous SNV unknown BBS9:NM_014451:exon13:c.G1363A:p.A455T,BBS9:NM_001033605:exon13:c.G1363A:p.A455T,BBS9:NM_198428:exon13:c.G1363A:p.A455T,BBS9:NM_001033604:exon13:c.G1363A:p.A455T, BBS9:uc003tdo.1:exon13:c.G1363A:p.A455T,BBS9:uc003tdn.1:exon13:c.G1363A:p.A455T,BBS9:uc003tdp.1:exon13:c.G1363A:p.A455T,BBS9:uc003tdq.1:exon13:c.G1363A:p.A455T,BBS9:uc011kao.1:exon10:c.G997A:p.A333T, UNKNOWN Het;G>A 1491;103|77 Ref Hom;G>A 4337;4|174 N N - 7 33392380 33392380 A G snp intronic BBS9 Bbs9 ENSG00000122507 Bardet-Biedl syndrome 9 chr7:33168856-33645680 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Cholesterol; Tobacco Use Disorder; Ovarian Failure, Premature; Echocardiography; Hemoglobins; Blood Cells; Cytomegalovirus Vaccines; Blood Pressure; Hematocrit; Cholesterol, LDL; Interleukin-6; Retinal Diseases BBSome-mediated cargo-targeting to cilium GO:0006810;transport;IEA|GO:0007601;visual perception;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0045444;fat cell differentiation;ISS|GO:0050896;response to stimulus;IEA|GO:0060271;cilium assembly;IBA|GO:0061512;protein localization to cilium;IMP GO:0000242;pericentriolar material;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IDA|GO:0016020;membrane;IEA|GO:0034451;centriolar satellite;IDA|GO:0034464;BBSome;IEA|GO:0035869;ciliary transition zone;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BBS9 https://www.uniprot.org/uniprot/Q3SYG4 https://hpo.jax.org/app/browse/search?q=BBS9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607968 http://www.informatics.jax.org/searchtool/Search.do?query=BBS9&submit=Quick%0D%5419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS9 rs11769616 0.146366 0.1535 0 1 0 0 intronic intronic intronic BBS9 BBS9 ENSG00000122507 Na Na Na Na Na Na Het;A>G 477;29|24 Ref Hom;A>G 1862;2|69 N N - 7 34763128 34763128 C CATAA indel ncRNA_intronic NPSR1-AS1 rs34955612 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic NPSR1-AS1 NPSR1-AS1 ENSG00000197085 Na Na Na Na Na Na Het;+ATAA 31;5|2 Ref Hom;+ATAA 142;0|4 N N - 7 35413154 35413155 CA C indel ncRNA_exonic LOC401324 rs398085705 0.504593 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=113814),ENSG00000235464(dist=122476) Na Na Na Na Na Na Het;-A 1458;42|60 Het;-A 1541;46|63 Hom;-A 4326;1|145 N N - 7 35413788 35413788 C T snp ncRNA_exonic LOC401324 rs340398 0.495008 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=114448),ENSG00000235464(dist=121843) Na Na Na Na Na Na Het;C>T 2356;99|99 Het;C>T 1941;75|89 Hom;C>T 4934;0|179 N N - 7 35414230 35414230 A G snp ncRNA_exonic LOC401324 rs340400 0.483826 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=114890),ENSG00000235464(dist=121401) Na Na Na Na Na Na Het;A>G 857;43|36 Het;A>G 682;38|31 Hom;A>G 1757;0|61 N N - 7 35414769 35414769 C T snp ncRNA_exonic LOC401324 rs2553113 0.483626 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=115429),ENSG00000235464(dist=120862) Na Na Na Na Na Na Het;C>T 4624;101|119 Het;C>T 3330;121|90 Hom;C>T 9521;2|217 N N - 7 35414772 35414772 C T snp ncRNA_exonic LOC401324 rs2553114 0.483626 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=115432),ENSG00000235464(dist=120859) Na Na Na Na Na Na Het;C>T 4632;105|119 Het;C>T 3339;115|89 Hom;C>T 9519;2|216 N N - 7 35415792 35415792 T C snp ncRNA_exonic LOC401324 rs340404 0.509984 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=116452),ENSG00000235464(dist=119839) Na Na Na Na Na Na Het;T>C 2610;117|101 Het;T>C 2093;106|85 Hom;T>C 6295;0|216 N N - 7 35415968 35415968 G GA indel ncRNA_exonic LOC401324 rs11382151 0.502396 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC401324 LOC401324 ENSG00000226063(dist=116628),ENSG00000235464(dist=119663) Na Na Na Na Na Na Het;+A 2844;110|86 Het;+A 2555;80|75 Hom;+A 6073;0|152 N N - 7 35465952 35465952 G A snp intergenic LOC401324 rs342985 0.310304 0 0 1 0 0 intergenic intergenic intergenic LOC401324(dist=49866),HERPUD2(dist=206318) LOC401324(dist=49866),HERPUD2(dist=206318) ENSG00000226063(dist=166612),ENSG00000235464(dist=69679) Na Na Na Na Na Na Het;G>A 70;3|3 Het;G>A 75;1|3 Hom;G>A 90;0|3 N N - 7 35709772 35709772 G A snp intronic HERPUD2 Herpud2 ENSG00000122557 HERPUD family member 2 chr7:35672269-35735181 Celiac Disease|; Insulin GO:0006986;response to unfolded protein;IEA|GO:0007283;spermatogenesis;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERPUD2 https://www.uniprot.org/uniprot/Q9BSE4 http://www.informatics.jax.org/searchtool/Search.do?query=HERPUD2&submit=Quick%0D%5425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERPUD2 rs3779235 0.259984 0 0 1 0 0 intronic intronic intronic HERPUD2 HERPUD2 ENSG00000122557 Na Na Na Na Na Na Het;G>A 261;18|13 Het;G>A 627;34|31 Hom;G>A 1923;0|68 N N - 7 35709842 35709842 C T snp nonsynonymous SNV G322A A108T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral HERPUD2 Herpud2 ENSG00000122557 HERPUD family member 2 chr7:35672269-35735181 Celiac Disease|; Insulin GO:0006986;response to unfolded protein;IEA|GO:0007283;spermatogenesis;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERPUD2 https://www.uniprot.org/uniprot/Q9BSE4 http://www.informatics.jax.org/searchtool/Search.do?query=HERPUD2&submit=Quick%0D%5425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERPUD2 rs3779234 0.267372 0.3148 0.3355 0.08 1 13 exonic exonic exonic HERPUD2 HERPUD2 ENSG00000122557 nonsynonymous SNV nonsynonymous SNV unknown HERPUD2:NM_022373:exon4:c.G322A:p.A108T, HERPUD2:uc003tet.3:exon3:c.G322A:p.A108T,HERPUD2:uc003tes.4:exon4:c.G322A:p.A108T, UNKNOWN Het;C>T 539;43|27 Het;C>T 1623;99|80 Hom;C>T 4946;0|182 N N - 7 35736786 35736786 C G snp ncRNA_exonic DQ594967 rs1318183 0.267173 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic HERPUD2(dist=2014),LOC100506725(dist=19261) DQ594967 ENSG00000271122 Na Na Na Na Na Na Het;C>G 2414;101|97 Het;C>G 1868;77|80 Hom;C>G 4241;0|145 N N - 7 35738164 35738164 C T snp ncRNA_exonic DQ594967 rs10228415 0.267173 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic HERPUD2(dist=3392),LOC100506725(dist=17883) DQ594967 ENSG00000271122 Na Na Na Na Na Na Het;C>T 1773;80|78 Het;C>T 1406;56|61 Hom;C>T 3263;1|117 N N - 7 35738563 35738563 C T snp ncRNA_exonic AC018647.2 rs10231752 0.297324 0 0 1 0 0 intergenic downstream ncRNA_exonic HERPUD2(dist=3791),LOC100506725(dist=17484) DQ594967 ENSG00000271122 Na Na Na Na Na Na Het;C>T 192;8|9 Ref Hom;C>T 358;0|13 N N - 7 35739134 35739134 G A snp downstream AC018647.2 rs10232612 0.291933 0 0 1 0 0 intergenic downstream downstream HERPUD2(dist=4362),LOC100506725(dist=16913) DQ594967 ENSG00000271122 Na Na Na Na Na Na Het;G>A 226;3|7 Het;G>A 273;1|8 Hom;G>A 308;0|9 N N - 7 35756797 35756797 T A snp ncRNA_intronic LOC100506725 rs4720184 0.496805 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC100506725 DQ594967(dist=18273),SEPT7(dist=83799) ENSG00000227544 Na Na Na Na Na Na Het;T>A 111;13|5 Het;T>A 285;6|12 Hom;T>A 504;0|16 N N - 7 36456614 36456614 C A snp intronic ANLN Anln ENSG00000011426 anillin actin binding protein chr7:36429415-36493400 This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Waist-Hip Ratio; Eosinophils; Body Mass Index GO:0000281;mitotic cytokinesis;IDA|GO:0000921;septin ring assembly;TAS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;TAS|GO:0051301;cell division;IEA|GO:0090521;glomerular visceral epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANLN https://www.uniprot.org/uniprot/Q9NQW6 https://hpo.jax.org/app/browse/search?q=ANLN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616027 http://www.informatics.jax.org/searchtool/Search.do?query=ANLN&submit=Quick%0D%559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANLN rs3779226 0.482228 0 0 1 0 0 intronic intronic intronic ANLN ANLN ENSG00000011426 Na Na Na Na Na Na Het;C>A 470;4|24 Het;C>A 85;12|5 Hom;C>A 422;1|19 N N - 7 3678514 3678514 A G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs3817615 0.372204 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;A>G 131;10|5 Het;A>G 116;5|4 Hom;A>G 185;0|5 N N - 7 37298800 37298800 C T snp synonymous SNV G399A V133V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ELMO1 Elmo1 ENSG00000155849 engulfment and cell motility 1 chr7:36893961-37488852 This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] smoking cessation; Body Mass Index; Blood Coagulation Factor Inhibitors; Diabetic Nephropathies|Diabetic Nephropathy; Phosphorus; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Heart Rate; Autoimmune Diseases; Celiac disease; Tobacco Use Disorder; Brain; Myocardial Infarction; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diabetic Nephropathies; Celiac Disease; QT interval; Diabetic nephropathy; Exercise Test; Liver Cirrhosis, Biliary; Chronic renal failure|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; response to treatment for acute lymphoblastic leukemia; diabetes, type 1 ; breast cancer Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. Mice homozygous for an ENU-induced allele exhibit decreased CD4+ T cells. PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;IGI|GO:0006915;apoptotic process;IEA|GO:0016477;cell migration;IEA|GO:0016601;Rac protein signal transduction;IGI|GO:0030029;actin filament-based process;IEA|GO:0030036;actin cytoskeleton organization;IGI|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048870;cell motility;IGI|GO:0050690;regulation of defense response to virus by virus;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ELMO1 https://www.uniprot.org/uniprot/Q92556 https://www.ncbi.nlm.nih.gov/omim/?term=606420 http://www.informatics.jax.org/searchtool/Search.do?query=ELMO1&submit=Quick%0D%9904ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMO1 rs2717968 0.291733 0.3085 0.2961 1 0 0 exonic exonic exonic ELMO1 ELMO1 ENSG00000155849 synonymous SNV synonymous SNV unknown ELMO1:NM_014800:exon6:c.G399A:p.V133V,ELMO1:NM_001206482:exon6:c.G399A:p.V133V,ELMO1:NM_001206480:exon6:c.G399A:p.V133V, ELMO1:uc010kxg.2:exon6:c.G399A:p.V133V,ELMO1:uc011kbc.2:exon3:c.G111A:p.V37V,ELMO1:uc003tfk.2:exon6:c.G399A:p.V133V,ELMO1:uc022abv.1:exon6:c.G399A:p.V133V, UNKNOWN Het;C>T 1212;51|52 Ref Hom;C>T 3079;1|109 N N - 7 37299056 37299056 C T snp intronic ELMO1 Elmo1 ENSG00000155849 engulfment and cell motility 1 chr7:36893961-37488852 This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] smoking cessation; Body Mass Index; Blood Coagulation Factor Inhibitors; Diabetic Nephropathies|Diabetic Nephropathy; Phosphorus; Diabetes Mellitus, Type 2|Diabetic Nephropathies|; Heart Rate; Autoimmune Diseases; Celiac disease; Tobacco Use Disorder; Brain; Myocardial Infarction; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diabetic Nephropathies; Celiac Disease; QT interval; Diabetic nephropathy; Exercise Test; Liver Cirrhosis, Biliary; Chronic renal failure|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Nephropathies|Diabetic Nephropathy|Kidney Failure, Chronic; response to treatment for acute lymphoblastic leukemia; diabetes, type 1 ; breast cancer Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. Mice homozygous for an ENU-induced allele exhibit decreased CD4+ T cells. PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases GO:0006909;phagocytosis;IEA|GO:0006911;phagocytosis, engulfment;IGI|GO:0006915;apoptotic process;IEA|GO:0016477;cell migration;IEA|GO:0016601;Rac protein signal transduction;IGI|GO:0030029;actin filament-based process;IEA|GO:0030036;actin cytoskeleton organization;IGI|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048870;cell motility;IGI|GO:0050690;regulation of defense response to virus by virus;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ELMO1 https://www.uniprot.org/uniprot/Q92556 https://www.ncbi.nlm.nih.gov/omim/?term=606420 http://www.informatics.jax.org/searchtool/Search.do?query=ELMO1&submit=Quick%0D%9904ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMO1 rs2717969 0.291534 0 0 1 0 0 intronic intronic intronic ELMO1 ELMO1 ENSG00000155849 Na Na Na Na Na Na Het;C>T 392;18|14 Ref Hom;C>T 898;0|30 N N - 7 37933983 37933983 C G snp intronic NME8 Nme8 ENSG00000086288 NME/NM23 family member 8 chr7:37888199-37940003 This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] osteoarthritis; Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Lipoproteins; Tobacco Use Disorder Homozygous mutant displays normal reproductive system phenotype GO:0006165;nucleoside diphosphate phosphorylation;IEA|GO:0006183;GTP biosynthetic process;IEA|GO:0006228;UTP biosynthetic process;IEA|GO:0006241;CTP biosynthetic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0045454;cell redox homeostasis;IEA|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0036157;outer dynein arm;IMP|GO:0097228;sperm principal piece;IEA|GO:0097598;sperm cytoplasmic droplet;IEA GO:0004550;nucleoside diphosphate kinase activity;IEA|GO:0008017;microtubule binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NME8 https://www.uniprot.org/uniprot/Q8N427 https://hpo.jax.org/app/browse/search?q=NME8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607421 http://www.informatics.jax.org/searchtool/Search.do?query=NME8&submit=Quick%0D%1921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NME8 rs10260487 0.616414 0 0 1 0 0 intronic intronic intronic NME8 NME8 ENSG00000086288,ENSG00000086289 Na Na Na Na Na Na Het;C>G 193;3|6 Het;C>G 202;7|7 Hom;C>G 356;0|10 N N - 7 37934234 37934234 G A snp intronic NME8 Nme8 ENSG00000086288 NME/NM23 family member 8 chr7:37888199-37940003 This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] osteoarthritis; Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Lipoproteins; Tobacco Use Disorder Homozygous mutant displays normal reproductive system phenotype GO:0006165;nucleoside diphosphate phosphorylation;IEA|GO:0006183;GTP biosynthetic process;IEA|GO:0006228;UTP biosynthetic process;IEA|GO:0006241;CTP biosynthetic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0045454;cell redox homeostasis;IEA|GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0036157;outer dynein arm;IMP|GO:0097228;sperm principal piece;IEA|GO:0097598;sperm cytoplasmic droplet;IEA GO:0004550;nucleoside diphosphate kinase activity;IEA|GO:0008017;microtubule binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NME8 https://www.uniprot.org/uniprot/Q8N427 https://hpo.jax.org/app/browse/search?q=NME8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607421 http://www.informatics.jax.org/searchtool/Search.do?query=NME8&submit=Quick%0D%1921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NME8 rs10261071 0.612021 0.6513 0.6596 1 0 0 intronic intronic intronic NME8 NME8 ENSG00000086288,ENSG00000086289 Na Na Na Na Na Na Het;G>A 415;10|17 Het;G>A 423;19|19 Hom;G>A 687;0|26 N N - 7 37947164 37947164 G T snp nonsynonymous SNV C958A P320T hydrophobic,neutral polar,hydrophilic,neutral SFRP4 Sfrp4 ENSG00000106483 secreted frizzled related protein 4 chr7:37945543-38065297 Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008] normal variation; Carcinoma, Renal Cell|Kidney Neoplasms; Bone Mineral Density; colorectal cancer Mice homozygous for a targeted allele exhibit a slight reduction in female fertility, normal body size, and normal serum phosphate and calcium levels. GO:0002092;positive regulation of receptor internalization;IDA|GO:0007275;multicellular organism development;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009725;response to hormone;NAS|GO:0010628;positive regulation of gene expression;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030510;regulation of BMP signaling pathway;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0055062;phosphate ion homeostasis;IDA|GO:0060349;bone morphogenesis;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902174;positive regulation of keratinocyte apoptotic process;IDA|GO:2000051;negative regulation of non-canonical Wnt signaling pathway;IEA|GO:2000119;negative regulation of sodium-dependent phosphate transport;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IDA GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SFRP4 https://www.uniprot.org/uniprot/Q6FHJ7 https://hpo.jax.org/app/browse/search?q=SFRP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606570 http://www.informatics.jax.org/searchtool/Search.do?query=SFRP4&submit=Quick%0D%3507ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP4 rs1802073 0.542732 0.4311 0.4382 0.15 2 13 exonic exonic exonic SFRP4 SFRP4 ENSG00000106483 nonsynonymous SNV nonsynonymous SNV unknown SFRP4:NM_003014:exon6:c.C958A:p.P320T, SFRP4:uc003tfo.4:exon6:c.C958A:p.P320T, UNKNOWN Het;G>T 1008;59|50 Het;G>T 756;55|41 Hom;G>T 2649;2|103 N N - 7 37953840 37953840 C T snp synonymous SNV G567A T189T polar,hydrophilic,neutral polar,hydrophilic,neutral SFRP4 Sfrp4 ENSG00000106483 secreted frizzled related protein 4 chr7:37945543-38065297 Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008] normal variation; Carcinoma, Renal Cell|Kidney Neoplasms; Bone Mineral Density; colorectal cancer Mice homozygous for a targeted allele exhibit a slight reduction in female fertility, normal body size, and normal serum phosphate and calcium levels. GO:0002092;positive regulation of receptor internalization;IDA|GO:0007275;multicellular organism development;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009725;response to hormone;NAS|GO:0010628;positive regulation of gene expression;IDA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0030510;regulation of BMP signaling pathway;IEA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045606;positive regulation of epidermal cell differentiation;IDA|GO:0055062;phosphate ion homeostasis;IDA|GO:0060349;bone morphogenesis;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:1902174;positive regulation of keratinocyte apoptotic process;IDA|GO:2000051;negative regulation of non-canonical Wnt signaling pathway;IEA|GO:2000119;negative regulation of sodium-dependent phosphate transport;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IDA GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SFRP4 https://www.uniprot.org/uniprot/Q6FHJ7 https://hpo.jax.org/app/browse/search?q=SFRP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606570 http://www.informatics.jax.org/searchtool/Search.do?query=SFRP4&submit=Quick%0D%3507ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP4 rs1132552 0.54393 0.4171 0.4616 1 0 0 exonic exonic exonic SFRP4 SFRP4 ENSG00000106483 synonymous SNV synonymous SNV unknown SFRP4:NM_003014:exon3:c.G567A:p.T189T, SFRP4:uc003tfo.4:exon3:c.G567A:p.T189T, UNKNOWN Het;C>T 918;23|37 Het;C>T 171;34|10 Hom;C>T 1405;0|47 N N - 7 38417556 38417556 A C snp ncRNA_exonic TRG-AS1 rs2080284 0.464657 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic TRG-AS1 LOC100506776 ENSG00000211701(dist=9786),ENSG00000078053(dist=5749) Na Na Na Na Na Na Het;A>C 1703;69|69 Ref Hom;A>C 3662;0|125 N N - 7 38431644 38431644 G GC indel intronic AMPH Amph ENSG00000078053 amphiphysin chr7:38423305-38671167 This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] Basophils; Bipolar Disorder; Bone Density; Tobacco Use Disorder; Body Weights and Measures; Abdominal Fat Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. Clathrin-mediated endocytosis GO:0006897;endocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008021;synaptic vesicle;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031256;leading edge membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AMPH https://www.uniprot.org/uniprot/P49418 https://www.ncbi.nlm.nih.gov/omim/?term=600418 http://www.informatics.jax.org/searchtool/Search.do?query=AMPH&submit=Quick%0D%1643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPH rs11431159 0 0.9987 0.8594 1 0 0 intronic intronic intronic AMPH AMPH ENSG00000078053 Na Na Na Na Na Na Het;+C 165;36|13 Ref Hom;+C 1435;0|42 N N - 7 38505025 38505025 G A snp intronic AMPH Amph ENSG00000078053 amphiphysin chr7:38423305-38671167 This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] Basophils; Bipolar Disorder; Bone Density; Tobacco Use Disorder; Body Weights and Measures; Abdominal Fat Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. Clathrin-mediated endocytosis GO:0006897;endocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008021;synaptic vesicle;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031256;leading edge membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AMPH https://www.uniprot.org/uniprot/P49418 https://www.ncbi.nlm.nih.gov/omim/?term=600418 http://www.informatics.jax.org/searchtool/Search.do?query=AMPH&submit=Quick%0D%1643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPH rs722334 0.677316 0.6181 0.6324 1 0 0 intronic intronic intronic AMPH AMPH ENSG00000078053 Na Na Na Na Na Na Het;G>A 805;27|35 Ref Hom;G>A 1399;0|51 N N - 7 38530568 38530568 G T snp intronic AMPH Amph ENSG00000078053 amphiphysin chr7:38423305-38671167 This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] Basophils; Bipolar Disorder; Bone Density; Tobacco Use Disorder; Body Weights and Measures; Abdominal Fat Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. Clathrin-mediated endocytosis GO:0006897;endocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008021;synaptic vesicle;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031256;leading edge membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AMPH https://www.uniprot.org/uniprot/P49418 https://www.ncbi.nlm.nih.gov/omim/?term=600418 http://www.informatics.jax.org/searchtool/Search.do?query=AMPH&submit=Quick%0D%1643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPH rs2043786 0.678914 0 0 1 0 0 intronic intronic intronic AMPH AMPH ENSG00000078053 Na Na Na Na Na Na Het;G>T 674;14|23 Ref Hom;G>T 890;0|27 N N - 7 38530807 38530807 T TA indel intronic AMPH Amph ENSG00000078053 amphiphysin chr7:38423305-38671167 This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] Basophils; Bipolar Disorder; Bone Density; Tobacco Use Disorder; Body Weights and Measures; Abdominal Fat Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. Clathrin-mediated endocytosis GO:0006897;endocytosis;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008021;synaptic vesicle;TAS|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031256;leading edge membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AMPH https://www.uniprot.org/uniprot/P49418 https://www.ncbi.nlm.nih.gov/omim/?term=600418 http://www.informatics.jax.org/searchtool/Search.do?query=AMPH&submit=Quick%0D%1643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMPH rs3837078 0.679313 0 0 1 0 0 intronic intronic intronic AMPH AMPH ENSG00000078053 Na Na Na Na Na Na Het;+A 270;22|14 Ref Hom;+A 1152;0|40 N N - 7 3861353 3861353 C G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs6943646 0.159944 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;C>G 84;10|4 Het;C>G 86;2|3 Hom;C>G 309;0|8 N N - 7 38781850 38781850 T C snp intronic VPS41 Vps41 ENSG00000006715 VPS41, HOPS complex subunit chr7:38762563-38971994 Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008] C-Reactive Protein; Tobacco Use Disorder; Cognitive performance; Parkinson Disease; CD40 Ligand; Psychomotor Performance; Socioeconomic Factors; Cholesterol, HDL; Carotid Artery Diseases; Tunica Media Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006914;autophagy;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0034058;endosomal vesicle fusion;IMP|GO:0035542;regulation of SNARE complex assembly;IBA|GO:0042144;vacuole fusion, non-autophagic;IBA|GO:0045055;regulated exocytosis;IEA|GO:1902774;late endosome to lysosome transport;IMP GO:0005622;intracellular;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;IEA|GO:0010008;endosome membrane;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030897;HOPS complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IDA|GO:0033263;CORVET complex;IBA|GO:0071439;clathrin complex;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0042802;identical protein binding;IPI|GO:0043621;protein self-association;IEA|GO:0046872;metal ion binding;IEA|GO:0051020;GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VPS41 https://www.uniprot.org/uniprot/P49754 https://www.ncbi.nlm.nih.gov/omim/?term=605485 http://www.informatics.jax.org/searchtool/Search.do?query=VPS41&submit=Quick%0D%418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS41 rs36004953 0.0555112 0 0 1 0 0 intronic intronic intronic VPS41 VPS41 ENSG00000006715 Na Na Na Na Na Na Het;T>C 317;7|10 Ref Hom;T>C 627;0|18 N N - 7 3911280 3911280 A G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs10242459 0.28135 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;A>G 276;25|16 Het;A>G 293;17|16 Hom;A>G 878;2|34 N N - 7 3911298 3911298 C G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs6963674 0.279752 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;C>G 385;25|21 Het;C>G 303;17|16 Hom;C>G 897;2|34 N N - 7 3911349 3911349 T A snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs6953282 0.279952 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;T>A 399;22|20 Het;T>A 187;13|11 Hom;T>A 648;2|27 N N - 7 39125413 39125413 T G snp UTR5 -53T>G POU6F2 ENSG00000106536 POU class 6 homeobox 2 chr7:39017598-39532694 This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009] Triglycerides; Cholesterol, LDL; Tobacco Use Disorder; Socioeconomic Factors; Wilms tumors; autism; Parkinson Disease; C-Reactive Protein; Cholesterol; Alcoholism Mice homozygous for a knock-out allele are viable, fertile and of normal size with no apparent phenotypic abnormalities. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007402;ganglion mother cell fate determination;TAS|GO:0007417;central nervous system development;TAS|GO:0007601;visual perception;TAS GO:0005634;nucleus;IC GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/POU6F2 https://www.uniprot.org/uniprot/P78424 https://hpo.jax.org/app/browse/search?q=POU6F2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609062 http://www.informatics.jax.org/searchtool/Search.do?query=POU6F2&submit=Quick%0D%3512ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POU6F2 rs1950001 0.877796 0.8128 0.8270 1 0 0 intronic intronic UTR5 POU6F2 POU6F2 ENSG00000106536(ENST00000559001:c.-53T>G) Na Na Na Na Na Na Het;T>G 895;28|31 Het;T>G 384;9|13 Hom;T>G 1203;0|34 N N - 7 3991646 3991646 T G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs3801067 0.328874 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;T>G 207;9|7 Het;T>G 189;4|7 Hom;T>G 215;0|6 N N - 7 4002204 4002204 G C snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs3801066 0.421126 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;G>C 142;11|7 Het;G>C 171;8|8 Hom;G>C 589;1|18 N N - 7 4011331 4011331 C T snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs6965800 0.405751 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;C>T 233;8|8 Het;C>T 250;4|8 Hom;C>T 205;0|6 N N - 7 41423224 41423224 C T snp intergenic LINC01449 rs273093 0.39976 0 0 1 0 0 intergenic intergenic intergenic LINC01449(dist=250125),INHBA(dist=305377) C7orf10(dist=522858),INHBA(dist=305377) ENSG00000224017(dist=250119),ENSG00000236310(dist=283542) Na Na Na Na Na Na Het;C>T 132;12|7 Het;C>T 225;8|10 Hom;C>T 328;0|11 N N - 7 4172006 4172006 C T snp synonymous SNV C4179T S1393S polar,hydrophilic,neutral polar,hydrophilic,neutral SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs13224870 0.244808 0.3166 0.3703 1 0 0 exonic exonic exonic SDK1 SDK1 ENSG00000146555 synonymous SNV synonymous SNV unknown SDK1:NM_152744:exon28:c.C4179T:p.S1393S, SDK1:uc003smx.3:exon28:c.C4179T:p.S1393S,SDK1:uc010kso.3:exon14:c.C2007T:p.S669S, UNKNOWN Het;C>T 2062;87|97 Het;C>T 2321;93|111 Hom;C>T 5179;0|196 N N - 7 4172109 4172109 C T snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs13224986 0.244808 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;C>T 705;22|31 Het;C>T 843;33|37 Hom;C>T 1802;0|63 N N - 7 4185685 4185685 A G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs663486 0.79972 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;A>G 158;4|5 Ref Hom;A>G 185;0|5 N N - 7 4189075 4189075 G C snp synonymous SNV G4605C A1535A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs659182 0.786542 0.7730 0.7590 1 0 0 exonic exonic exonic SDK1 SDK1 ENSG00000146555 synonymous SNV synonymous SNV unknown SDK1:NM_152744:exon30:c.G4605C:p.A1535A,SDK1:NM_001079653:exon4:c.G66C:p.A22A, SDK1:uc003smx.3:exon30:c.G4605C:p.A1535A,SDK1:uc010kso.3:exon16:c.G2433C:p.A811A,SDK1:uc003smy.3:exon4:c.G66C:p.A22A, UNKNOWN Het;G>C 1301;83|61 Het;G>C 1673;69|78 Hom;G>C 3969;0|143 N N - 7 4189123 4189123 G A snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs4720177 0.500998 0.4807 0.5864 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;G>A 779;44|33 Het;G>A 1053;37|43 Hom;G>A 1912;0|69 N N - 7 4213877 4213877 T C snp synonymous SNV T4824C N1608N polar,hydrophilic,neutral polar,hydrophilic,neutral SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs601424 0.670727 0.6389 0.6836 1 0 0 exonic exonic exonic SDK1 SDK1 ENSG00000146555 synonymous SNV synonymous SNV unknown SDK1:NM_152744:exon33:c.T4824C:p.N1608N,SDK1:NM_001079653:exon7:c.T285C:p.N95N, SDK1:uc003smx.3:exon33:c.T4824C:p.N1608N,SDK1:uc010kso.3:exon19:c.T2652C:p.N884N,SDK1:uc003smy.3:exon7:c.T285C:p.N95N, UNKNOWN Het;T>C 1379;66|63 Het;T>C 824;62|41 Hom;T>C 2303;3|87 N N - 7 4213940 4213940 T C snp synonymous SNV T4887C T1629T polar,hydrophilic,neutral polar,hydrophilic,neutral SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs671756 0.665735 0.6319 0.6817 1 0 0 exonic exonic exonic SDK1 SDK1 ENSG00000146555 synonymous SNV synonymous SNV unknown SDK1:NM_152744:exon33:c.T4887C:p.T1629T,SDK1:NM_001079653:exon7:c.T348C:p.T116T, SDK1:uc003smx.3:exon33:c.T4887C:p.T1629T,SDK1:uc010kso.3:exon19:c.T2715C:p.T905T,SDK1:uc003smy.3:exon7:c.T348C:p.T116T, UNKNOWN Het;T>C 1978;72|85 Het;T>C 878;91|44 Hom;T>C 2983;3|116 N N - 7 4213975 4213975 A G snp nonsynonymous SNV A4922G H1641R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs671694 0.799321 0.7866 0.7525 0.23 3 13 exonic exonic exonic SDK1 SDK1 ENSG00000146555 nonsynonymous SNV nonsynonymous SNV unknown SDK1:NM_152744:exon33:c.A4922G:p.H1641R,SDK1:NM_001079653:exon7:c.A383G:p.H128R, SDK1:uc003smx.3:exon33:c.A4922G:p.H1641R,SDK1:uc010kso.3:exon19:c.A2750G:p.H917R,SDK1:uc003smy.3:exon7:c.A383G:p.H128R, UNKNOWN Het;A>G 1770;59|78 Het;A>G 854;77|42 Hom;A>G 2316;3|91 N N - 7 4214046 4214046 T C snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs600537 0.648962 0 0 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;T>C 1008;29|40 Het;T>C 997;29|26 Hom;T>C 1578;1|40 N N - 7 4304727 4304727 A G snp intronic SDK1 Sdk1 ENSG00000146555 sidekick cell adhesion molecule 1 chr7:3341080-4308632 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Thyrotropin; Neuroblastoma; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tunica Media; Myocardial Infarction; hypertension; Psychiatric Disorders; quantitative traits; Heart Failure; Blood Pressure Determination; Platelet Aggregation SDK interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007416;synapse assembly;ISS|GO:0010842;retina layer formation;ISS|GO:0045216;cell-cell junction organization;TAS|GO:0048148;behavioral response to cocaine;IEA|GO:0060998;regulation of dendritic spine development;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SDK1 https://www.uniprot.org/uniprot/Q7Z5N4 https://www.ncbi.nlm.nih.gov/omim/?term=607216 http://www.informatics.jax.org/searchtool/Search.do?query=SDK1&submit=Quick%0D%8894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDK1 rs10270413 0.692692 0.6414 0.6920 1 0 0 intronic intronic intronic SDK1 SDK1 ENSG00000146555 Na Na Na Na Na Na Het;A>G 1239;43|53 Het;A>G 614;45|33 Hom;A>G 1775;0|64 N N - 7 43077116 43077116 G A snp ncRNA_intronic AC005537.1 rs7786719 0.302915 0 0 1 0 0 intergenic intergenic ncRNA_intronic MRPL32(dist=99663),HECW1(dist=75082) MRPL32(dist=99663),HECW1(dist=75082) ENSG00000232006 Na Na Na Na Na Na Het;G>A 444;14|23 Ref Hom;G>A 552;0|22 N N - 7 45808432 45808432 A G snp ncRNA_exonic SEPT7P2 rs2974729 0.643171 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SEPT7P2 SEPT7P2 ENSG00000214765 Na Na Na Na Na Na Het;A>G 3457;109|140 Het;A>G 2955;117|121 Hom;A>G 6547;0|219 N N - 7 45848798 45848798 A G snp upstream;downstream DQ573852 rs3966151 0.639776 0 0 1 0 0 intergenic upstream;downstream intergenic SEPT7P2(dist=40181),IGFBP1(dist=79161) DQ573852,DQ584939,DQ599799;DQ574672,DQ590432 ENSG00000212450(dist=19511),ENSG00000272556(dist=5403) Na Na Na Na Na Na Het;A>G 240;74|15 Het;A>G 571;61|26 Hom;A>G 916;0|30 N N - 7 45853629 45853629 A T snp upstream GTF2IP13 rs2960289 0.639976 0 0 1 0 0 intergenic intergenic upstream SEPT7P2(dist=45012),IGFBP1(dist=74330) DQ583079(dist=3306),IGFBP1(dist=74330) ENSG00000272556 Na Na Na Na Na Na Het;A>T 448;16|19 Het;A>T 249;17|12 Hom;A>T 1033;0|39 N N - 7 45856638 45856638 T C snp ncRNA_exonic CICP20 rs2453844 0.633187 0 0 1 0 0 intergenic intergenic ncRNA_exonic SEPT7P2(dist=48021),IGFBP1(dist=71321) DQ583079(dist=6315),IGFBP1(dist=71321) ENSG00000235955 Na Na Na Na Na Na Het;T>C 669;41|26 Het;T>C 650;30|18 Hom;T>C 2045;0|60 N N - 7 45954692 45954692 T C snp intronic IGFBP3 Igfbp3 ENSG00000146674 insulin like growth factor binding protein 3 chr7:45951949-45961473 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Colonic Neoplasms; Thyroid Diseases; Carcinoma, Renal Cell|Kidney Neoplasms; IGF-I levels; IGFBP-3 levels; Alzheimer's disease ; Endometrial Neoplasms; Brain Neoplasms|; ovarian cancer ; mamographic density; Growth Disorders; height; Bulimia; Bone Mineral Density; Abortion, Spontaneous; breast cancer; esophageal adenocarcinoma; breast density; Inflammation|Premature Birth; ovarian cancer; Insulin-like growth factor-3; retinol; breast cancer; insulin-like growth factor; atherosclerosis; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; IGF-I activity and lipid parameters; null; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; insulin-like growth factors; colorectal cancer; Acromegaly; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; lung cancer ; Breast Diseases; breast cancer ; IGFBP3 levels; prostate cancer | breast cancer ; Multiple Myeloma; muscle testing; colon cancer rectal cancer; insulin-like growth factor-1; Insulin-like growth factor-3; Neoplasms|Prostatic Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms; Infection|Inflammation|Premature Birth; Type 2 diabetes; chronic obstructive pulmonary disease; bladder cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; overall effect; Type 2 Diabetes| edema | rosiglitazone; Narcolepsy; lung cancer; Stomach Neoplasms; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; breast cancer|prostate cancer; Fetal Growth Retardation|; Testicular Neoplasms; Neoplasm Metastasis|Recurrence|Stomach Neoplasms; prostate cancer; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; growth response to growth hormone therapy; Breast Neoplasms|Mammary Neoplasms; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; schizophrenia; body mass; birth weight; height; breast cancer prostate cancer; insulin-like growth factor; colon cancer; prostatic hyperplasia; prostate cancer; Colonic Neoplasms|Microsatellite Instability; Clubfoot; Lymphoma, Non-Hodgkin; Brain Ischemia|Stroke Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight, and show altered hepatic carbohydrate and lipid metabolism when fed a high-fat diet. Post-translational protein phosphorylation GO:0001558;regulation of cell growth;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0008285;negative regulation of cell proliferation;IGI|GO:0009968;negative regulation of signal transduction;NAS|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014912;negative regulation of smooth muscle cell migration;IDA|GO:0040008;regulation of growth;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043567;regulation of insulin-like growth factor receptor signaling pathway;IBA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016942;insulin-like growth factor binding protein complex;IC|GO:0042567;insulin-like growth factor ternary complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001968;fibronectin binding;IBA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008160;protein tyrosine phosphatase activator activity;IDA|GO:0019838;growth factor binding;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IBA|GO:0046872;metal ion binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IGFBP3 https://www.uniprot.org/uniprot/P17936 https://www.ncbi.nlm.nih.gov/omim/?term=146732 http://www.informatics.jax.org/searchtool/Search.do?query=IGFBP3&submit=Quick%0D%8902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFBP3 rs10255707 0.820288 0 0 1 0 0 intronic intronic intronic IGFBP3 IGFBP3 ENSG00000146674 Na Na Na Na Na Na Het;T>C 252;14|11 Het;T>C 296;5|11 Hom;T>C 553;0|19 N N - 7 46010714 46010714 T C snp ncRNA_intronic AC073115.2 rs788711 0.75619 0 0 1 0 0 intergenic intergenic ncRNA_intronic IGFBP3(dist=49843),TNS3(dist=1304038) IGFBP3(dist=49843),AK125311(dist=716763) ENSG00000237471 Na Na Na Na Na Na Het;T>C 486;34|24 Het;T>C 618;34|29 Hom;T>C 1523;0|54 N N - 7 46038428 46038428 G GT indel ncRNA_intronic AC073115.1 rs34057876 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic IGFBP3(dist=77557),TNS3(dist=1276324) IGFBP3(dist=77557),AK125311(dist=689049) ENSG00000229628 Na Na Na Na Na Na Het;+T 75;10|6 Ref Hom;+T 96;0|5 N N - 7 46038680 46038680 C G snp ncRNA_intronic AC073115.1 rs2960426 0.374601 0 0 1 0 0 intergenic intergenic ncRNA_intronic IGFBP3(dist=77809),TNS3(dist=1276072) IGFBP3(dist=77809),AK125311(dist=688797) ENSG00000229628 Na Na Na Na Na Na Het;C>G 643;38|28 Het;C>G 962;29|41 Hom;C>G 1915;0|67 N N - 7 46736788 46736788 T TA indel upstream AK125311 rs144623777 0.21246 0 0 1 0 0 intergenic upstream upstream IGFBP3(dist=775917),TNS3(dist=577964) AK125311 ENSG00000233539 Na Na Na Na Na Na Het;+A 578;25|32 Het;+A 201;24|14 Hom;+A 1598;0|60 N N - 7 46886650 46886650 T A snp intergenic IGFBP3 Igfbp3 ENSG00000146674 insulin like growth factor binding protein 3 chr7:45951949-45961473 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Colonic Neoplasms; Thyroid Diseases; Carcinoma, Renal Cell|Kidney Neoplasms; IGF-I levels; IGFBP-3 levels; Alzheimer's disease ; Endometrial Neoplasms; Brain Neoplasms|; ovarian cancer ; mamographic density; Growth Disorders; height; Bulimia; Bone Mineral Density; Abortion, Spontaneous; breast cancer; esophageal adenocarcinoma; breast density; Inflammation|Premature Birth; ovarian cancer; Insulin-like growth factor-3; retinol; breast cancer; insulin-like growth factor; atherosclerosis; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; IGF-I activity and lipid parameters; null; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; insulin-like growth factors; colorectal cancer; Acromegaly; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; lung cancer ; Breast Diseases; breast cancer ; IGFBP3 levels; prostate cancer | breast cancer ; Multiple Myeloma; muscle testing; colon cancer rectal cancer; insulin-like growth factor-1; Insulin-like growth factor-3; Neoplasms|Prostatic Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms; Infection|Inflammation|Premature Birth; Type 2 diabetes; chronic obstructive pulmonary disease; bladder cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; overall effect; Type 2 Diabetes| edema | rosiglitazone; Narcolepsy; lung cancer; Stomach Neoplasms; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; breast cancer|prostate cancer; Fetal Growth Retardation|; Testicular Neoplasms; Neoplasm Metastasis|Recurrence|Stomach Neoplasms; prostate cancer; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; growth response to growth hormone therapy; Breast Neoplasms|Mammary Neoplasms; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; schizophrenia; body mass; birth weight; height; breast cancer prostate cancer; insulin-like growth factor; colon cancer; prostatic hyperplasia; prostate cancer; Colonic Neoplasms|Microsatellite Instability; Clubfoot; Lymphoma, Non-Hodgkin; Brain Ischemia|Stroke Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight, and show altered hepatic carbohydrate and lipid metabolism when fed a high-fat diet. Post-translational protein phosphorylation GO:0001558;regulation of cell growth;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0008285;negative regulation of cell proliferation;IGI|GO:0009968;negative regulation of signal transduction;NAS|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014912;negative regulation of smooth muscle cell migration;IDA|GO:0040008;regulation of growth;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043567;regulation of insulin-like growth factor receptor signaling pathway;IBA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016942;insulin-like growth factor binding protein complex;IC|GO:0042567;insulin-like growth factor ternary complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001968;fibronectin binding;IBA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008160;protein tyrosine phosphatase activator activity;IDA|GO:0019838;growth factor binding;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IBA|GO:0046872;metal ion binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IGFBP3 https://www.uniprot.org/uniprot/P17936 https://www.ncbi.nlm.nih.gov/omim/?term=146732 http://www.informatics.jax.org/searchtool/Search.do?query=IGFBP3&submit=Quick%0D%8902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFBP3 rs12702259 0.73143 0 0 1 0 0 intergenic intergenic intergenic IGFBP3(dist=925779),TNS3(dist=428102) AK125311(dist=149930),TNS3(dist=428102) ENSG00000242948(dist=63609),ENSG00000232072(dist=43573) Na Na Na Na Na Na Het;T>A 279;12|10 Het;T>A 138;12|6 Hom;T>A 283;0|10 N N - 7 47236828 47236828 C G snp intergenic IGFBP3 Igfbp3 ENSG00000146674 insulin like growth factor binding protein 3 chr7:45951949-45961473 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Colonic Neoplasms; Thyroid Diseases; Carcinoma, Renal Cell|Kidney Neoplasms; IGF-I levels; IGFBP-3 levels; Alzheimer's disease ; Endometrial Neoplasms; Brain Neoplasms|; ovarian cancer ; mamographic density; Growth Disorders; height; Bulimia; Bone Mineral Density; Abortion, Spontaneous; breast cancer; esophageal adenocarcinoma; breast density; Inflammation|Premature Birth; ovarian cancer; Insulin-like growth factor-3; retinol; breast cancer; insulin-like growth factor; atherosclerosis; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; IGF-I activity and lipid parameters; null; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; insulin-like growth factors; colorectal cancer; Acromegaly; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; lung cancer ; Breast Diseases; breast cancer ; IGFBP3 levels; prostate cancer | breast cancer ; Multiple Myeloma; muscle testing; colon cancer rectal cancer; insulin-like growth factor-1; Insulin-like growth factor-3; Neoplasms|Prostatic Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms; Infection|Inflammation|Premature Birth; Type 2 diabetes; chronic obstructive pulmonary disease; bladder cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; overall effect; Type 2 Diabetes| edema | rosiglitazone; Narcolepsy; lung cancer; Stomach Neoplasms; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; breast cancer|prostate cancer; Fetal Growth Retardation|; Testicular Neoplasms; Neoplasm Metastasis|Recurrence|Stomach Neoplasms; prostate cancer; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; growth response to growth hormone therapy; Breast Neoplasms|Mammary Neoplasms; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; schizophrenia; body mass; birth weight; height; breast cancer prostate cancer; insulin-like growth factor; colon cancer; prostatic hyperplasia; prostate cancer; Colonic Neoplasms|Microsatellite Instability; Clubfoot; Lymphoma, Non-Hodgkin; Brain Ischemia|Stroke Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight, and show altered hepatic carbohydrate and lipid metabolism when fed a high-fat diet. Post-translational protein phosphorylation GO:0001558;regulation of cell growth;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0008285;negative regulation of cell proliferation;IGI|GO:0009968;negative regulation of signal transduction;NAS|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014912;negative regulation of smooth muscle cell migration;IDA|GO:0040008;regulation of growth;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043567;regulation of insulin-like growth factor receptor signaling pathway;IBA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016942;insulin-like growth factor binding protein complex;IC|GO:0042567;insulin-like growth factor ternary complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001968;fibronectin binding;IBA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008160;protein tyrosine phosphatase activator activity;IDA|GO:0019838;growth factor binding;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IBA|GO:0046872;metal ion binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IGFBP3 https://www.uniprot.org/uniprot/P17936 https://www.ncbi.nlm.nih.gov/omim/?term=146732 http://www.informatics.jax.org/searchtool/Search.do?query=IGFBP3&submit=Quick%0D%8902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFBP3 rs7793574 0.377995 0 0 1 0 0 intergenic intergenic intergenic IGFBP3(dist=1275957),TNS3(dist=77924) AK125311(dist=500108),TNS3(dist=77924) ENSG00000229192(dist=118102),ENSG00000136205(dist=77924) Na Na Na Na Na Na Het;C>G 461;31|23 Ref Hom;C>G 1899;0|64 N N - 7 47242645 47242645 A G snp intergenic IGFBP3 Igfbp3 ENSG00000146674 insulin like growth factor binding protein 3 chr7:45951949-45961473 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Colonic Neoplasms; Thyroid Diseases; Carcinoma, Renal Cell|Kidney Neoplasms; IGF-I levels; IGFBP-3 levels; Alzheimer's disease ; Endometrial Neoplasms; Brain Neoplasms|; ovarian cancer ; mamographic density; Growth Disorders; height; Bulimia; Bone Mineral Density; Abortion, Spontaneous; breast cancer; esophageal adenocarcinoma; breast density; Inflammation|Premature Birth; ovarian cancer; Insulin-like growth factor-3; retinol; breast cancer; insulin-like growth factor; atherosclerosis; Adenocarcinoma|Esophageal Neoplasms|Esophagitis|Metaplasia|Oesophageal neoplasm; IGF-I activity and lipid parameters; null; epithelial ovarian cancer ; Chronic renal failure|Kidney Failure, Chronic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; insulin-like growth factors; colorectal cancer; Acromegaly; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; lung cancer ; Breast Diseases; breast cancer ; IGFBP3 levels; prostate cancer | breast cancer ; Multiple Myeloma; muscle testing; colon cancer rectal cancer; insulin-like growth factor-1; Insulin-like growth factor-3; Neoplasms|Prostatic Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms; Infection|Inflammation|Premature Birth; Type 2 diabetes; chronic obstructive pulmonary disease; bladder cancer; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; overall effect; Type 2 Diabetes| edema | rosiglitazone; Narcolepsy; lung cancer; Stomach Neoplasms; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; breast cancer|prostate cancer; Fetal Growth Retardation|; Testicular Neoplasms; Neoplasm Metastasis|Recurrence|Stomach Neoplasms; prostate cancer; Anoxia|Bone necrosis|Femur Head Necrosis|Osteonecrosis; growth response to growth hormone therapy; Breast Neoplasms|Mammary Neoplasms; Adenoma|Colonic Polyps|Colorectal Neoplasms|Hyperplasia; schizophrenia; body mass; birth weight; height; breast cancer prostate cancer; insulin-like growth factor; colon cancer; prostatic hyperplasia; prostate cancer; Colonic Neoplasms|Microsatellite Instability; Clubfoot; Lymphoma, Non-Hodgkin; Brain Ischemia|Stroke Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight, and show altered hepatic carbohydrate and lipid metabolism when fed a high-fat diet. Post-translational protein phosphorylation GO:0001558;regulation of cell growth;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0008285;negative regulation of cell proliferation;IGI|GO:0009968;negative regulation of signal transduction;NAS|GO:0010906;regulation of glucose metabolic process;IEA|GO:0014912;negative regulation of smooth muscle cell migration;IDA|GO:0040008;regulation of growth;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0043567;regulation of insulin-like growth factor receptor signaling pathway;IBA|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0044342;type B pancreatic cell proliferation;IEA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016942;insulin-like growth factor binding protein complex;IC|GO:0042567;insulin-like growth factor ternary complex;IDA|GO:0070062;extracellular exosome;IDA GO:0001968;fibronectin binding;IBA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008160;protein tyrosine phosphatase activator activity;IDA|GO:0019838;growth factor binding;IEA|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IBA|GO:0046872;metal ion binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IGFBP3 https://www.uniprot.org/uniprot/P17936 https://www.ncbi.nlm.nih.gov/omim/?term=146732 http://www.informatics.jax.org/searchtool/Search.do?query=IGFBP3&submit=Quick%0D%8902ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGFBP3 rs4720584 0.375799 0 0 1 0 0 intergenic intergenic intergenic IGFBP3(dist=1281774),TNS3(dist=72107) AK125311(dist=505925),TNS3(dist=72107) ENSG00000229192(dist=123919),ENSG00000136205(dist=72107) Na Na Na Na Na Na Het;A>G 218;16|9 Ref Hom;A>G 288;0|8 N N - 7 47436558 47436558 A C snp intronic TNS3 Tns3 ENSG00000136205 tensin 3 chr7:47314752-47622156 Tobacco Use Disorder Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation. MET interacts with TNS proteins GO:0008284;positive regulation of cell proliferation;IEA|GO:0016477;cell migration;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0048286;lung alveolus development;IEA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0030054;cell junction;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNS3 https://www.uniprot.org/uniprot/Q68CZ2 https://www.ncbi.nlm.nih.gov/omim/?term=606825 http://www.informatics.jax.org/searchtool/Search.do?query=TNS3&submit=Quick%0D%7307ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNS3 rs2177795 0.903954 0 0 1 0 0 intronic intronic intronic TNS3 TNS3 ENSG00000136205 Na Na Na Na Na Na Het;A>C 778;32|32 Het;A>C 503;29|21 Hom;A>C 1460;0|48 N N - 7 47806441 47806441 C CTTTA indel downstream LINC00525 rs370627687 0 0 0 1 0 0 downstream downstream intronic LINC00525 LINC00525 ENSG00000136273 Na Na Na Na Na Na Het;+TTTA 134;13|5 Ref Hom;+TTTA 473;0|12 N N - 7 47835814 47835814 G A snp intronic C7orf69 rs6943728 0.44369 0 0 1 0 0 intronic intronic intronic C7orf69,PKD1L1 C7orf69,PKD1L1 ENSG00000136273,ENSG00000136275,ENSG00000158683 Na Na Na Na Na Na Het;G>A 305;13|12 Het;G>A 391;11|15 Hom;G>A 785;0|26 N N - 7 47840510 47840510 T C snp intronic C7orf69 rs1466203 0.841054 0.8447 0.8465 1 0 0 intronic intronic intronic C7orf69,PKD1L1 C7orf69,PKD1L1 ENSG00000136273,ENSG00000136275,ENSG00000158683 Na Na Na Na Na Na Het;T>C 758;35|34 Het;T>C 593;23|30 Hom;T>C 1567;0|55 N N - 7 47847679 47847679 G A snp intronic C7orf69 rs1074780 0.719649 0 0 1 0 0 intronic intronic intronic C7orf69,PKD1L1 C7orf69,PKD1L1 ENSG00000136273,ENSG00000136275,ENSG00000158683 Na Na Na Na Na Na Het;G>A 105;2|4 Ref Hom;G>A 131;0|4 N N - 7 47857982 47857982 A G snp intronic C7orf69 rs3800568 0.432907 0 0 1 0 0 intronic intronic intronic C7orf69,PKD1L1 C7orf69,PKD1L1 ENSG00000136273,ENSG00000136275,ENSG00000158683 Na Na Na Na Na Na Het;A>G 41;3|2 Het;A>G 46;2|2 Hom;A>G 277;0|8 N N - 7 47859239 47859239 C A snp UTR3 *44C>A C7orf69 rs3757379 0.432508 0.4058 0.4335 1 0 0 UTR3 UTR3 UTR3 C7orf69(NM_025031:c.*44C>A,NM_001302627:c.*44C>A) C7orf69(uc003tnz.4:c.*44C>A) ENSG00000136275(ENST00000258776:c.*44C>A,ENST00000418326:c.*44C>A) Na Na Na Na Na Na Het;C>A 353;21|16 Het;C>A 375;20|16 Hom;C>A 1251;0|43 N N - 7 47869751 47869751 C T snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs6463451 0.39996 0.3746 0.4106 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;C>T 499;21|22 Ref Hom;C>T 906;0|37 N N - 7 47872845 47872845 A G snp synonymous SNV T6180C P2060P hydrophobic,neutral hydrophobic,neutral PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs921634 0.730631 0.7136 0.7333 1 0 0 exonic exonic exonic PKD1L1 PKD1L1 ENSG00000158683 synonymous SNV synonymous SNV unknown PKD1L1:NM_138295:exon41:c.T6180C:p.P2060P, PKD1L1:uc003tny.2:exon41:c.T6180C:p.P2060P, UNKNOWN Het;A>G 1750;83|75 Ref Hom;A>G 3597;2|135 N N - 7 47884555 47884555 A G snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs13237611 0.444688 0.4006 0.4503 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;A>G 583;19|25 Het;A>G 146;35|10 Hom;A>G 1068;0|36 N N - 7 47894952 47894952 C CT indel intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs11441954 0.180511 0 0 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;+T 377;9|11 Ref Hom;+T 638;0|15 N N - 7 47894955 47894955 T A snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs34811669 0.180511 0 0 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;T>A 386;9|9 Ref Hom;T>A 647;0|15 N N - 7 47898222 47898222 T TG indel intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs34177211 0.177716 0.2274 0.1490 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;+G 283;5|10 Ref Hom;+G 131;0|5 N N - 7 47898597 47898597 T C snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs2053985 0.121406 0 0 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;T>C 489;21|21 Ref Hom;T>C 927;1|31 N N - 7 47927403 47927403 G C snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs884596 0.371006 0 0 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;G>C 38;4|2 Ref Hom;G>C 178;0|5 N N - 7 47968927 47968927 C A snp nonsynonymous SNV G934T V312F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs2686817 0.484824 0.4922 0.4885 0.38 5 13 exonic exonic exonic PKD1L1 PKD1L1 ENSG00000158683 nonsynonymous SNV nonsynonymous SNV unknown PKD1L1:NM_138295:exon7:c.G934T:p.V312F, PKD1L1:uc003tny.2:exon7:c.G934T:p.V312F, UNKNOWN Het;C>A 1801;100|83 Ref Hom;C>A 3673;0|126 N N - 7 47971575 47971575 A G snp synonymous SNV T477C C159C polar,hydrophobic,neutral polar,hydrophobic,neutral PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs885337 0.478834 0.4932 0.4977 1 0 0 exonic exonic exonic PKD1L1 PKD1L1 ENSG00000158683 synonymous SNV synonymous SNV unknown PKD1L1:NM_138295:exon5:c.T477C:p.C159C, PKD1L1:uc003tny.2:exon5:c.T477C:p.C159C, UNKNOWN Het;A>G 472;29|25 Ref Hom;A>G 966;0|34 N N - 7 47976287 47976287 A G snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs2708878 0.516973 0 0 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;A>G 160;5|6 Ref Hom;A>G 288;0|9 N N - 7 47976682 47976682 G C snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs60107343 0.499601 0 0 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;G>C 55;6|3 Ref Hom;G>C 292;0|9 N N - 7 47979922 47979922 A G snp intronic PKD1L1 Pkd1l1 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting chr7:47814250-47988088 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leprosy; Sodium Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. GO:0003127;detection of nodal flow;ISS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0070986;left/right axis specification;ISS GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA GO:0005262;calcium channel activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PKD1L1 https://hpo.jax.org/app/browse/search?q=PKD1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609721 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L1&submit=Quick%0D%10236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L1 rs2708913 0.496406 0.5093 0.5529 1 0 0 intronic intronic intronic PKD1L1 PKD1L1 ENSG00000136273,ENSG00000158683 Na Na Na Na Na Na Het;A>G 923;32|50 Ref Hom;A>G 1265;2|55 N N - 7 48000002 48000002 G A snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs200159170 0 0 0 1 0 0 intergenic intergenic intronic PKD1L1(dist=11931),HUS1(dist=2883) PKD1L1(dist=11931),HUS1(dist=2883) ENSG00000136273 Na Na Na Na Na Na Het;G>A 156;21|6 Ref Hom;G>A 782;0|18 N N - 7 48000012 48000012 G A snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs74656214 0.433307 0 0 1 0 0 intergenic intergenic intronic PKD1L1(dist=11941),HUS1(dist=2873) PKD1L1(dist=11941),HUS1(dist=2873) ENSG00000136273 Na Na Na Na Na Na Het;G>A 365;24|15 Ref Hom;G>A 1128;0|31 N N - 7 48000358 48000358 A G snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2686834 0.433107 0 0 1 0 0 intergenic intergenic intronic PKD1L1(dist=12287),HUS1(dist=2527) PKD1L1(dist=12287),HUS1(dist=2527) ENSG00000136273 Na Na Na Na Na Na Het;A>G 270;7|8 Ref Hom;A>G 277;0|7 N N - 7 48000374 48000374 G T snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2708882 0.423522 0 0 1 0 0 intergenic intergenic intronic PKD1L1(dist=12303),HUS1(dist=2511) PKD1L1(dist=12303),HUS1(dist=2511) ENSG00000136273 Na Na Na Na Na Na Het;G>T 164;6|5 Ref Hom;G>T 197;0|5 N N - 7 48003665 48003665 T C snp UTR3 *1288A>G HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2686835 0.423123 0 0 1 0 0 UTR3 UTR3 UTR3 HUS1(NM_004507:c.*1288A>G) HUS1(uc003tod.2:c.*1288A>G) ENSG00000136273(ENST00000258774:c.*1288A>G) Na Na Na Na Na Na Het;T>C 404;20|19 Ref Hom;T>C 1671;0|63 N N - 7 48003767 48003767 G A snp UTR3 *1186C>T HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2686836 0.423323 0 0 1 0 0 UTR3 UTR3 UTR3 HUS1(NM_004507:c.*1186C>T) HUS1(uc003tod.2:c.*1186C>T) ENSG00000136273(ENST00000258774:c.*1186C>T) Na Na Na Na Na Na Het;G>A 277;11|10 Ref Hom;G>A 570;0|20 N N - 7 48004962 48004962 C T snp synonymous SNV G834A A278A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs1056663 0.423323 0.4439 0.4840 1 0 0 exonic exonic exonic HUS1 HUS1 ENSG00000136273 synonymous SNV synonymous SNV unknown HUS1:NM_004507:exon8:c.G834A:p.A278A, HUS1:uc003tod.2:exon8:c.G834A:p.A278A, UNKNOWN Het;C>T 966;77|48 Ref Hom;C>T 3919;2|146 N N - 7 48005122 48005122 G A snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2037483 0.423323 0 0 1 0 0 intronic intronic intronic HUS1 HUS1 ENSG00000136273 Na Na Na Na Na Na Het;G>A 726;45|35 Ref Hom;G>A 1898;0|70 N N - 7 48017965 48017965 C T snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2242477 0.427915 0.4457 0.4863 1 0 0 intronic intronic intronic HUS1 HUS1 ENSG00000136273 Na Na Na Na Na Na Het;C>T 568;12|18 Ref Hom;C>T 910;0|30 N N - 7 48017989 48017989 T C snp intronic HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2242478 0.433307 0.4530 0.4891 1 0 0 intronic intronic intronic HUS1 HUS1 ENSG00000136273 Na Na Na Na Na Na Het;T>C 845;22|33 Ref Hom;T>C 1422;0|46 N N - 7 48018455 48018455 T A snp UTR5 -53A>T HUS1 Hus1 ENSG00000136273 HUS1 checkpoint clamp component chr7:47735328-48019178 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] esophageal adenocarcinoma; chronic obstructive pulmonary disease; Amyotrophic Lateral Sclerosis; lung cancer; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Blood Vessels; lung cancer ; breast cancer Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. G2/M DNA damage checkpoint GO:0000077;DNA damage checkpoint;TAS|GO:0000724;double-strand break repair via homologous recombination;IBA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0006260;DNA replication;TAS|GO:0006281;DNA repair;TAS|GO:0006289;nucleotide-excision repair;IBA|GO:0006468;protein phosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0007093;mitotic cell cycle checkpoint;IEA|GO:0008156;negative regulation of DNA replication;IEA|GO:0009411;response to UV;IEA|GO:0009790;embryo development;IEA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0033314;mitotic DNA replication checkpoint;IBA|GO:0044778;meiotic DNA integrity checkpoint;IBA|GO:0071479;cellular response to ionizing radiation;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0030896;checkpoint clamp complex;IBA|GO:0035861;site of double-strand break;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HUS1 https://www.uniprot.org/uniprot/O60921 https://www.ncbi.nlm.nih.gov/omim/?term=603760 http://www.informatics.jax.org/searchtool/Search.do?query=HUS1&submit=Quick%0D%7323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HUS1 rs2242479 0.433307 0.4530 0.4897 1 0 0 intronic intronic UTR5 HUS1 HUS1 ENSG00000136273(ENST00000433977:c.-53A>T) Na Na Na Na Na Na Het;T>A 452;39|22 Ref Hom;T>A 1389;0|46 N N - 7 48237802 48237802 C T snp intronic ABCA13 Abca13 ENSG00000179869 ATP binding cassette subfamily A member 13 chr7:48211055-48687092 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism Neutrophil degranulation GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA13 https://www.ncbi.nlm.nih.gov/omim/?term=607807 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13 rs2188 0.353834 0.3939 0.4575 1 0 0 intronic intronic intronic ABCA13 ABCA13 ENSG00000179869 Na Na Na Na Na Na Het;C>T 1189;36|47 Ref Hom;C>T 1881;0|64 N N - 7 48269679 48269679 G C snp UTR3 *2653G>C ABCA13 Abca13 ENSG00000179869 ATP binding cassette subfamily A member 13 chr7:48211055-48687092 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism Neutrophil degranulation GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA13 https://www.ncbi.nlm.nih.gov/omim/?term=607807 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13 rs60553397 0.881789 0 0 1 0 0 intronic UTR3 intronic ABCA13 ABCA13(uc003top.2:c.*2653G>C) ENSG00000179869 Na Na Na Na Na Na Het;G>C 171;11|6 Ref Hom;G>C 394;0|10 N N - 7 48285485 48285485 C T snp nonsynonymous SNV C1517T P506L hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA13 Abca13 ENSG00000179869 ATP binding cassette subfamily A member 13 chr7:48211055-48687092 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism Neutrophil degranulation GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA13 https://www.ncbi.nlm.nih.gov/omim/?term=607807 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13 rs1880738 0.40655 0.3516 0.4441 0.08 1 13 exonic exonic exonic ABCA13 ABCA13 ENSG00000179869 nonsynonymous SNV nonsynonymous SNV unknown ABCA13:NM_152701:exon13:c.C1517T:p.P506L, ABCA13:uc003toq.2:exon13:c.C1517T:p.P506L,ABCA13:uc010kyr.2:exon14:c.C26T:p.P9L, UNKNOWN Het;C>T 773;26|33 Ref Hom;C>T 1835;0|67 N N - 7 48312674 48312674 G A snp synonymous SNV G3411A V1137V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA13 Abca13 ENSG00000179869 ATP binding cassette subfamily A member 13 chr7:48211055-48687092 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism Neutrophil degranulation GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA13 https://www.ncbi.nlm.nih.gov/omim/?term=607807 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13 rs1358066 0.57528 0.4945 0.5356 1 0 0 exonic exonic exonic ABCA13 ABCA13 ENSG00000179869 synonymous SNV synonymous SNV unknown ABCA13:NM_152701:exon17:c.G3411A:p.V1137V, ABCA13:uc003toq.2:exon17:c.G3411A:p.V1137V,ABCA13:uc010kyr.2:exon18:c.G1920A:p.V640V, UNKNOWN Het;G>A 1964;102|91 Ref Hom;G>A 8917;0|325 N N - 7 50544269 50544270 AG A indel intronic DDC Ddc ENSG00000132437 dopa decarboxylase chr7:50526134-50633154 The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] Type 2 Diabetes| edema | rosiglitazone; Acute lymphoblastic leukemia (childhood); Schizophrenia; ADHD; patent ductus arteriosus; bipolar affective disorder; unipolar affective disorder; alcohol consumption; Tobacco Use Disorder; Autism; normal variation; Hypercholesterolemia|LDLC levels; Bulimia; migraine ; Malaria; personality; schizophrenia; ADHD | attention-deficit hyperactivity disorder; Brain; several psychiatric disorders; bipolar disorder; nicotine; malaria; bipolar affective disorder.; nicotine dependence smoking behavior; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Weight Gain Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels. Serotonin and melatonin biosynthesis GO:0006520;cellular amino acid metabolic process;IEA|GO:0007623;circadian rhythm;IEA|GO:0009636;response to toxic substance;IEA|GO:0010259;multicellular organism aging;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0033076;isoquinoline alkaloid metabolic process;IEA|GO:0035690;cellular response to drug;IEA|GO:0042416;dopamine biosynthetic process;IEA|GO:0042423;catecholamine biosynthetic process;TAS|GO:0042427;serotonin biosynthetic process;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0046684;response to pyrethroid;IEA|GO:0052314;phytoalexin metabolic process;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004058;aromatic-L-amino-acid decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016597;amino acid binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0036468;L-dopa decarboxylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDC https://www.uniprot.org/uniprot/P20711 https://hpo.jax.org/app/browse/search?q=DDC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107930 http://www.informatics.jax.org/searchtool/Search.do?query=DDC&submit=Quick%0D%6673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDC rs5884156 0.734225 0.7654 0 1 0 0 intronic intronic intronic DDC DDC ENSG00000132437 Na Na Na Na Na Na Het;-G 389;23|14 Het;-G 303;8|10 Hom;-G 835;0|22 N N - 7 50566762 50566762 C T snp intronic DDC Ddc ENSG00000132437 dopa decarboxylase chr7:50526134-50633154 The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] Type 2 Diabetes| edema | rosiglitazone; Acute lymphoblastic leukemia (childhood); Schizophrenia; ADHD; patent ductus arteriosus; bipolar affective disorder; unipolar affective disorder; alcohol consumption; Tobacco Use Disorder; Autism; normal variation; Hypercholesterolemia|LDLC levels; Bulimia; migraine ; Malaria; personality; schizophrenia; ADHD | attention-deficit hyperactivity disorder; Brain; several psychiatric disorders; bipolar disorder; nicotine; malaria; bipolar affective disorder.; nicotine dependence smoking behavior; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Weight Gain Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels. Serotonin and melatonin biosynthesis GO:0006520;cellular amino acid metabolic process;IEA|GO:0007623;circadian rhythm;IEA|GO:0009636;response to toxic substance;IEA|GO:0010259;multicellular organism aging;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0033076;isoquinoline alkaloid metabolic process;IEA|GO:0035690;cellular response to drug;IEA|GO:0042416;dopamine biosynthetic process;IEA|GO:0042423;catecholamine biosynthetic process;TAS|GO:0042427;serotonin biosynthetic process;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0046684;response to pyrethroid;IEA|GO:0052314;phytoalexin metabolic process;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004058;aromatic-L-amino-acid decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016597;amino acid binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0036468;L-dopa decarboxylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDC https://www.uniprot.org/uniprot/P20711 https://hpo.jax.org/app/browse/search?q=DDC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107930 http://www.informatics.jax.org/searchtool/Search.do?query=DDC&submit=Quick%0D%6673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDC rs2876829 0.721645 0 0 1 0 0 intronic intronic intronic DDC DDC ENSG00000132437 Na Na Na Na Na Na Het;C>T 215;1|8 Het;C>T 67;4|3 Hom;C>T 175;0|6 N N - 7 50571779 50571779 G A snp intronic DDC Ddc ENSG00000132437 dopa decarboxylase chr7:50526134-50633154 The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] Type 2 Diabetes| edema | rosiglitazone; Acute lymphoblastic leukemia (childhood); Schizophrenia; ADHD; patent ductus arteriosus; bipolar affective disorder; unipolar affective disorder; alcohol consumption; Tobacco Use Disorder; Autism; normal variation; Hypercholesterolemia|LDLC levels; Bulimia; migraine ; Malaria; personality; schizophrenia; ADHD | attention-deficit hyperactivity disorder; Brain; several psychiatric disorders; bipolar disorder; nicotine; malaria; bipolar affective disorder.; nicotine dependence smoking behavior; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Weight Gain Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels. Serotonin and melatonin biosynthesis GO:0006520;cellular amino acid metabolic process;IEA|GO:0007623;circadian rhythm;IEA|GO:0009636;response to toxic substance;IEA|GO:0010259;multicellular organism aging;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0033076;isoquinoline alkaloid metabolic process;IEA|GO:0035690;cellular response to drug;IEA|GO:0042416;dopamine biosynthetic process;IEA|GO:0042423;catecholamine biosynthetic process;TAS|GO:0042427;serotonin biosynthetic process;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0046684;response to pyrethroid;IEA|GO:0052314;phytoalexin metabolic process;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004058;aromatic-L-amino-acid decarboxylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016597;amino acid binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0036468;L-dopa decarboxylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DDC https://www.uniprot.org/uniprot/P20711 https://hpo.jax.org/app/browse/search?q=DDC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=107930 http://www.informatics.jax.org/searchtool/Search.do?query=DDC&submit=Quick%0D%6673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDC rs11575375 0.324481 0.3641 0.3334 1 0 0 intronic intronic intronic DDC DDC ENSG00000132437 Na Na Na Na Na Na Het;G>A 1252;78|64 Ref Hom;G>A 2925;0|109 N N - 7 50610742 50610742 A G snp ncRNA_exonic DDC-AS1 rs3807552 0.676917 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic DDC-AS1 LOC100129427 ENSG00000226122 Na Na Na Na Na Na Het;A>G 1891;102|88 Het;A>G 1773;97|79 Hom;A>G 4464;0|161 N N - 7 50742118 50742118 A G snp intronic GRB10 Grb10 ENSG00000106070 growth factor receptor bound protein 10 chr7:50657760-50861159 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] intrauterine growth; Scleroderma, Systemic; null Maternal transmission of a mutant allele results in both fetal and placental overgrowth. Disproportionate overgrowth of the liver is observed. Paternal transmission of an allele lacking the differentially methylated region results in growth retardation. RET signaling GO:0007165;signal transduction;IEA|GO:0007411;axon guidance;TAS|GO:0030178;negative regulation of Wnt signaling pathway;IDA|GO:0030949;positive regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0042326;negative regulation of phosphorylation;IEA|GO:0046325;negative regulation of glucose import;ISS|GO:0046627;negative regulation of insulin receptor signaling pathway;ISS|GO:0048009;insulin-like growth factor receptor signaling pathway;IEA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005158;insulin receptor binding;ISS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GRB10 https://www.uniprot.org/uniprot/Q13322 https://www.ncbi.nlm.nih.gov/omim/?term=601523 http://www.informatics.jax.org/searchtool/Search.do?query=GRB10&submit=Quick%0D%3447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB10 rs2715128 0.913339 0.8974 0.8954 1 0 0 intronic intronic intronic GRB10 GRB10 ENSG00000106070 Na Na Na Na Na Na Het;A>G 541;16|19 Het;A>G 373;23|15 Hom;A>G 979;0|32 N N - 7 51449823 51449823 T G snp upstream CICP17 rs11981380 0.228435 0 0 1 0 0 intergenic intergenic upstream COBL(dist=65308),POM121L12(dist=1653526) COBL(dist=65308),DQ584971(dist=8503) ENSG00000227233 Na Na Na Na Na Na Het;T>G 107;15|6 Het;T>G 124;13|8 Hom;T>G 328;0|12 N N - 7 51449830 51449830 C CAAAACAAAAAACAA indel upstream CICP17 rs71021778 0 0 0 1 0 0 intergenic intergenic upstream COBL(dist=65315),POM121L12(dist=1653519) COBL(dist=65315),DQ584971(dist=8496) ENSG00000227233 Na Na Na Na Na Na Het;+AAAACAAAAAACAA 387;12|7 Het;+AAAACAAAAAACAA 376;16|8 Hom;+AAAACAAAAAACAA 1056;0|18 N N - 7 51450917 51450917 G A snp ncRNA_exonic CICP17 rs13228913 0.227436 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=66402),POM121L12(dist=1652432) COBL(dist=66402),DQ584971(dist=7409) ENSG00000227233 Na Na Na Na Na Na Het;G>A 1138;44|48 Het;G>A 1302;29|56 Hom;G>A 1876;0|67 N N - 7 51451068 51451068 G A snp ncRNA_exonic CICP17 rs13229104 0.189297 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=66553),POM121L12(dist=1652281) COBL(dist=66553),DQ584971(dist=7258) ENSG00000227233 Na Na Na Na Na Na Het;G>A 698;40|28 Het;G>A 1010;35|41 Hom;G>A 1118;0|39 N N - 7 51451275 51451275 G A snp ncRNA_exonic CICP17 rs13229355 0.467452 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=66760),POM121L12(dist=1652074) COBL(dist=66760),DQ584971(dist=7051) ENSG00000227233 Na Na Na Na Na Na Het;G>A 1041;46|46 Het;G>A 826;43|38 Hom;G>A 1322;4|49 N N - 7 51451636 51451636 A G snp ncRNA_exonic CICP17 rs13247361 0.219848 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=67121),POM121L12(dist=1651713) COBL(dist=67121),DQ584971(dist=6690) ENSG00000227233 Na Na Na Na Na Na Het;A>G 707;21|19 Het;A>G 680;15|18 Hom;A>G 1322;0|30 N N - 7 51451637 51451637 C T snp ncRNA_exonic CICP17 rs13233374 0.219848 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=67122),POM121L12(dist=1651712) COBL(dist=67122),DQ584971(dist=6689) ENSG00000227233 Na Na Na Na Na Na Het;C>T 707;21|19 Het;C>T 683;15|18 Hom;C>T 1322;0|29 N N - 7 51452312 51452314 CAT C indel ncRNA_exonic CICP17 rs71021780 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=67797),POM121L12(dist=1651035) COBL(dist=67797),DQ584971(dist=6012) ENSG00000227233 Na Na Na Na Na Na Het;-AT 1970;62|54 Het;-AT 2064;36|53 Hom;-AT 4338;0|99 N N - 7 51452581 51452581 C T snp ncRNA_exonic ENSG00000251564 rs13234472 0.227436 0 0 1 0 0 intergenic intergenic ncRNA_exonic COBL(dist=68066),POM121L12(dist=1650768) COBL(dist=68066),DQ584971(dist=5745) ENSG00000251564 Na Na Na Na Na Na Het;C>T 1594;49|65 Het;C>T 566;52|27 Hom;C>T 2772;2|93 N N - 7 51455567 51455567 T C snp upstream;downstream ENSG00000228897 rs71528812 0.189297 0 0 1 0 0 intergenic intergenic upstream;downstream COBL(dist=71052),POM121L12(dist=1647782) COBL(dist=71052),DQ584971(dist=2759) ENSG00000228897;ENSG00000227080 Na Na Na Na Na Na Het;T>C 1869;119|85 Het;T>C 2203;100|98 Hom;T>C 5898;2|218 N N - 7 51460542 51460542 G A snp upstream DQ599872 rs71528814 0.192093 0 0 1 0 0 intergenic upstream intergenic COBL(dist=76027),POM121L12(dist=1642807) DQ599872,DQ600587 ENSG00000227080(dist=3731),ENSG00000229478(dist=207440) Na Na Na Na Na Na Het;G>A 300;22|12 Het;G>A 262;25|12 Hom;G>A 682;0|24 N N - 7 51462698 51462698 A G snp intergenic COBL Cobl ENSG00000106078 cordon-bleu WH2 repeat protein chr7:51083909-51384515 Echocardiography; Potassium; Cholesterol, LDL; Cell Adhesion Molecules; Emphysema; Cholesterol, HDL; Hypertension; Neuroblastoma; Electrocardiography; Glucose; Autism; Alzheimer Disease; Heart Failure; Hippocampus; Celiac Disease|; Tobacco Use Disorder; type 1 diabetes; C-Reactive Protein Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. GO:0000578;embryonic axis specification;ISS|GO:0001757;somite specification;ISS|GO:0001843;neural tube closure;ISS|GO:0001889;liver development;ISS|GO:0030041;actin filament polymerization;IBA|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0048565;digestive tract development;ISS|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0051639;actin filament network formation;IBA|GO:1900006;positive regulation of dendrite development;ISS|GO:1900029;positive regulation of ruffle assembly;IEA GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;ISS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0044294;dendritic growth cone;ISS|GO:0044295;axonal growth cone;ISS|GO:0048471;perinuclear region of cytoplasm;ISS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/COBL https://www.uniprot.org/uniprot/O75128 https://www.ncbi.nlm.nih.gov/omim/?term=610317 http://www.informatics.jax.org/searchtool/Search.do?query=COBL&submit=Quick%0D%3449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBL rs9801588 0.270767 0 0 1 0 0 intergenic intergenic intergenic COBL(dist=78183),POM121L12(dist=1640651) DQ599872(dist=2322),POM121L12(dist=1640651) ENSG00000227080(dist=5887),ENSG00000229478(dist=205284) Na Na Na Na Na Na Het;A>G 654;27|28 Het;A>G 681;38|28 Hom;A>G 1691;0|56 N N - 7 51470797 51470797 G C snp intergenic COBL Cobl ENSG00000106078 cordon-bleu WH2 repeat protein chr7:51083909-51384515 Echocardiography; Potassium; Cholesterol, LDL; Cell Adhesion Molecules; Emphysema; Cholesterol, HDL; Hypertension; Neuroblastoma; Electrocardiography; Glucose; Autism; Alzheimer Disease; Heart Failure; Hippocampus; Celiac Disease|; Tobacco Use Disorder; type 1 diabetes; C-Reactive Protein Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. GO:0000578;embryonic axis specification;ISS|GO:0001757;somite specification;ISS|GO:0001843;neural tube closure;ISS|GO:0001889;liver development;ISS|GO:0030041;actin filament polymerization;IBA|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0048565;digestive tract development;ISS|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0051639;actin filament network formation;IBA|GO:1900006;positive regulation of dendrite development;ISS|GO:1900029;positive regulation of ruffle assembly;IEA GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;ISS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0044294;dendritic growth cone;ISS|GO:0044295;axonal growth cone;ISS|GO:0048471;perinuclear region of cytoplasm;ISS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/COBL https://www.uniprot.org/uniprot/O75128 https://www.ncbi.nlm.nih.gov/omim/?term=610317 http://www.informatics.jax.org/searchtool/Search.do?query=COBL&submit=Quick%0D%3449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBL rs6944841 0.296126 0 0 1 0 0 intergenic intergenic intergenic COBL(dist=86282),POM121L12(dist=1632552) DQ599872(dist=10421),POM121L12(dist=1632552) ENSG00000227080(dist=13986),ENSG00000229478(dist=197185) Na Na Na Na Na Na Het;G>C 64;11|4 Het;G>C 90;4|6 Hom;G>C 255;0|10 N N - 7 51584523 51584523 T C snp intergenic COBL Cobl ENSG00000106078 cordon-bleu WH2 repeat protein chr7:51083909-51384515 Echocardiography; Potassium; Cholesterol, LDL; Cell Adhesion Molecules; Emphysema; Cholesterol, HDL; Hypertension; Neuroblastoma; Electrocardiography; Glucose; Autism; Alzheimer Disease; Heart Failure; Hippocampus; Celiac Disease|; Tobacco Use Disorder; type 1 diabetes; C-Reactive Protein Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. GO:0000578;embryonic axis specification;ISS|GO:0001757;somite specification;ISS|GO:0001843;neural tube closure;ISS|GO:0001889;liver development;ISS|GO:0030041;actin filament polymerization;IBA|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0048565;digestive tract development;ISS|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0051639;actin filament network formation;IBA|GO:1900006;positive regulation of dendrite development;ISS|GO:1900029;positive regulation of ruffle assembly;IEA GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;ISS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0044294;dendritic growth cone;ISS|GO:0044295;axonal growth cone;ISS|GO:0048471;perinuclear region of cytoplasm;ISS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/COBL https://www.uniprot.org/uniprot/O75128 https://www.ncbi.nlm.nih.gov/omim/?term=610317 http://www.informatics.jax.org/searchtool/Search.do?query=COBL&submit=Quick%0D%3449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBL rs10899733 0.172324 0 0 1 0 0 intergenic intergenic intergenic COBL(dist=200008),POM121L12(dist=1518826) DQ599872(dist=124147),POM121L12(dist=1518826) ENSG00000227080(dist=127712),ENSG00000229478(dist=83459) Na Na Na Na Na Na Het;T>C 388;10|14 Het;T>C 55;6|3 Hom;T>C 407;0|12 N N - 7 51667929 51667929 C T snp downstream ROBO2P1 rs2329829 0.71266 0 0 1 0 0 intergenic intergenic downstream COBL(dist=283414),POM121L12(dist=1435420) DQ599872(dist=207553),POM121L12(dist=1435420) ENSG00000229478 Na Na Na Na Na Na Het;C>T 584;8|21 Het;C>T 460;21|18 Hom;C>T 1023;2|36 N N - 7 5267639 5267639 G C snp intronic WIPI2 Wipi2 ENSG00000157954 WD repeat domain, phosphoinositide interacting 2 chr7:5229819-5273457 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008] Myocardial Infarction Macroautophagy GO:0000045;autophagosome assembly;IMP|GO:0006914;autophagy;IEA|GO:0016236;macroautophagy;TAS GO:0000407;pre-autophagosomal structure;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0034045;pre-autophagosomal structure membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/WIPI2 https://www.ncbi.nlm.nih.gov/omim/?term=609225 http://www.informatics.jax.org/searchtool/Search.do?query=WIPI2&submit=Quick%0D%10150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WIPI2 rs73048056 0.0840655 0 0 1 0 0 intronic intronic intronic WIPI2 WIPI2 ENSG00000157954 Na Na Na Na Na Na Het;G>C 350;8|12 Het;G>C 373;9|11 Hom;G>C 351;0|10 N N - 7 53219886 53219886 G C snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs12666140 0.605631 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=115268),LINC01446(dist=503316) POM121L12(dist=115268),FLJ45974(dist=503316) ENSG00000221900(dist=115269),ENSG00000227344(dist=35195) Na Na Na Na Na Na Het;G>C 243;8|12 Het;G>C 299;3|14 Hom;G>C 62;0|3 N N - 7 53230067 53230067 G T snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs1830059 0.532748 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=125449),LINC01446(dist=493135) POM121L12(dist=125449),FLJ45974(dist=493135) ENSG00000221900(dist=125450),ENSG00000227344(dist=25014) Na Na Na Na Na Na Het;G>T 499;33|25 Het;G>T 193;26|13 Hom;G>T 1775;0|63 N N - 7 53230359 53230359 C T snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs13241970 0.553115 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=125741),LINC01446(dist=492843) POM121L12(dist=125741),FLJ45974(dist=492843) ENSG00000221900(dist=125742),ENSG00000227344(dist=24722) Na Na Na Na Na Na Het;C>T 521;22|22 Het;C>T 123;8|7 Hom;C>T 1019;0|37 N N - 7 53230968 53230968 A T snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs2056639 0.303514 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=126350),LINC01446(dist=492234) POM121L12(dist=126350),FLJ45974(dist=492234) ENSG00000221900(dist=126351),ENSG00000227344(dist=24113) Na Na Na Na Na Na Het;A>T 73;4|3 Het;A>T 76;6|5 Hom;A>T 434;0|14 N N - 7 53231555 53231555 C CAG indel intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs143085063 0.267572 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=126937),LINC01446(dist=491647) POM121L12(dist=126937),FLJ45974(dist=491647) ENSG00000221900(dist=126938),ENSG00000227344(dist=23526) Na Na Na Na Na Na Het;+AG 151;4|5 Ref Hom;+AG 188;0|5 N N - 7 53232241 53232241 T C snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs73115178 0.26877 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=127623),LINC01446(dist=490961) POM121L12(dist=127623),FLJ45974(dist=490961) ENSG00000221900(dist=127624),ENSG00000227344(dist=22840) Na Na Na Na Na Na Het;T>C 85;8|4 Het;T>C 206;6|6 Hom;T>C 827;0|19 N N - 7 53232242 53232242 A G snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs73115179 0.226238 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=127624),LINC01446(dist=490960) POM121L12(dist=127624),FLJ45974(dist=490960) ENSG00000221900(dist=127625),ENSG00000227344(dist=22839) Na Na Na Na Na Na Het;A>G 85;8|4 Het;A>G 206;5|6 Hom;A>G 827;0|19 N N - 7 53232690 53232690 T C snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs2177769 0.283746 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=128072),LINC01446(dist=490512) POM121L12(dist=128072),FLJ45974(dist=490512) ENSG00000221900(dist=128073),ENSG00000227344(dist=22391) Na Na Na Na Na Na Het;T>C 247;12|12 Het;T>C 167;12|8 Hom;T>C 601;1|25 N N - 7 53233315 53233315 T C snp intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs13222833 0.282947 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=128697),LINC01446(dist=489887) POM121L12(dist=128697),FLJ45974(dist=489887) ENSG00000221900(dist=128698),ENSG00000227344(dist=21766) Na Na Na Na Na Na Het;T>C 608;23|26 Het;T>C 154;14|10 Hom;T>C 1432;0|54 N N - 7 53233847 53233847 T TAAAC indel intergenic POM121L12 Pom121l12 ENSG00000221900 POM121 transmembrane nucleoporin like 12 chr7:53103349-53104617 Blood Flow Velocity GO:0006405;RNA export from nucleus;IBA|GO:0006606;protein import into nucleus;IBA GO:0005622;intracellular;IEA GO:0005487;nucleocytoplasmic transporter activity;IBA|GO:0008139;nuclear localization sequence binding;IBA|GO:0017056;structural constituent of nuclear pore;IBA http://www.genecards.org/index.php?path=/Search/keyword/POM121L12 http://www.informatics.jax.org/searchtool/Search.do?query=POM121L12&submit=Quick%0D%18424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POM121L12 rs147436954 0 0 0 1 0 0 intergenic intergenic intergenic POM121L12(dist=129229),LINC01446(dist=489355) POM121L12(dist=129229),FLJ45974(dist=489355) ENSG00000221900(dist=129230),ENSG00000227344(dist=21234) Na Na Na Na Na Na Het;+AAAC 245;4|7 Ref Hom;+AAAC 233;0|6 N N - 7 53255605 53255605 C T snp ncRNA_exonic HAUS6P1 rs4391375 0.291134 0 0 1 0 0 intergenic intergenic ncRNA_exonic POM121L12(dist=150987),LINC01446(dist=467597) POM121L12(dist=150987),FLJ45974(dist=467597) ENSG00000227344 Na Na Na Na Na Na Het;C>T 1264;65|55 Het;C>T 992;42|47 Hom;C>T 2239;0|82 N N - 7 53256265 53256265 G A snp ncRNA_exonic HAUS6P1 rs11972016 0.291733 0 0 1 0 0 intergenic intergenic ncRNA_exonic POM121L12(dist=151647),LINC01446(dist=466937) POM121L12(dist=151647),FLJ45974(dist=466937) ENSG00000227344 Na Na Na Na Na Na Het;G>A 747;43|30 Het;G>A 721;33|28 Hom;G>A 2153;0|72 N N - 7 53256324 53256324 T C snp ncRNA_exonic HAUS6P1 rs35856447 0.220048 0 0 1 0 0 intergenic intergenic ncRNA_exonic POM121L12(dist=151706),LINC01446(dist=466878) POM121L12(dist=151706),FLJ45974(dist=466878) ENSG00000227344 Na Na Na Na Na Na Het;T>C 841;41|35 Het;T>C 808;36|35 Hom;T>C 1931;0|69 N N - 7 5365049 5365049 G GT indel intronic TNRC18 Tnrc18 ENSG00000182095 trinucleotide repeat containing 18 chr7:5346421-5465045 Albumins; Myocardial Infarction GO:0006342;chromatin silencing;IBA|GO:0031507;heterochromatin assembly;IBA GO:0000785;chromatin;IBA|GO:0005634;nucleus;IDA|GO:0005677;chromatin silencing complex;IBA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA GO:0000976;transcription regulatory region sequence-specific DNA binding;IBA|GO:0003682;chromatin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNRC18 http://www.informatics.jax.org/searchtool/Search.do?query=TNRC18&submit=Quick%0D%14716ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNRC18 rs138438851 0 0 0 1 0 0 intronic intronic intronic TNRC18 TNRC18 ENSG00000182095 Na Na Na Na Na Na Het;+T 64;6|5 Ref Hom;+T 71;0|4 N N - 7 538277 538277 G C snp intronic PDGFA Pdgfa ENSG00000197461 platelet derived growth factor subunit A chr7:536895-559933 This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] atherosclerosis; asthma; Asthma Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001775;cell activation;TAS|GO:0001942;hair follicle development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0002576;platelet degranulation;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009611;response to wounding;IDA|GO:0009887;animal organ morphogenesis;ISS|GO:0010512;negative regulation of phosphatidylinositol biosynthetic process;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030031;cell projection assembly;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043588;skin development;ISS|GO:0045740;positive regulation of DNA replication;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048286;lung alveolus development;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050919;negative chemotaxis;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060683;regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1990401;embryonic lung development;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005902;microvillus;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005161;platelet-derived growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008083;growth factor activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IPI|GO:0048407;platelet-derived growth factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDGFA https://www.ncbi.nlm.nih.gov/omim/?term=173430 http://www.informatics.jax.org/searchtool/Search.do?query=PDGFA&submit=Quick%0D%16634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFA rs34223855 0.307308 0.3195 0 1 0 0 intronic intronic intronic PDGFA PDGFA ENSG00000197461 Na Na Na Na Na Na Het;G>C 1751;45|47 Het;G>C 1867;42|52 Hom;G>C 4071;0|98 N N - 7 538284 538284 T C snp intronic PDGFA Pdgfa ENSG00000197461 platelet derived growth factor subunit A chr7:536895-559933 This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] atherosclerosis; asthma; Asthma Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001775;cell activation;TAS|GO:0001942;hair follicle development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0002576;platelet degranulation;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009611;response to wounding;IDA|GO:0009887;animal organ morphogenesis;ISS|GO:0010512;negative regulation of phosphatidylinositol biosynthetic process;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030031;cell projection assembly;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043588;skin development;ISS|GO:0045740;positive regulation of DNA replication;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048286;lung alveolus development;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050919;negative chemotaxis;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060683;regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1990401;embryonic lung development;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005902;microvillus;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005161;platelet-derived growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008083;growth factor activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IPI|GO:0048407;platelet-derived growth factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDGFA https://www.ncbi.nlm.nih.gov/omim/?term=173430 http://www.informatics.jax.org/searchtool/Search.do?query=PDGFA&submit=Quick%0D%16634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFA rs35782510 0.304712 0.3173 0 1 0 0 intronic intronic intronic PDGFA PDGFA ENSG00000197461 Na Na Na Na Na Na Het;T>C 1701;35|44 Het;T>C 1702;37|44 Hom;T>C 3642;0|81 N N - 7 538348 538348 A T snp intronic PDGFA Pdgfa ENSG00000197461 platelet derived growth factor subunit A chr7:536895-559933 This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] atherosclerosis; asthma; Asthma Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0000165;MAPK cascade;TAS|GO:0001525;angiogenesis;ISS|GO:0001775;cell activation;TAS|GO:0001942;hair follicle development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0002576;platelet degranulation;TAS|GO:0007267;cell-cell signaling;TAS|GO:0007275;multicellular organism development;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0009611;response to wounding;IDA|GO:0009887;animal organ morphogenesis;ISS|GO:0010512;negative regulation of phosphatidylinositol biosynthetic process;IDA|GO:0010544;negative regulation of platelet activation;IDA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0014910;regulation of smooth muscle cell migration;IDA|GO:0030031;cell projection assembly;ISS|GO:0030036;actin cytoskeleton organization;ISS|GO:0030198;extracellular matrix organization;TAS|GO:0030335;positive regulation of cell migration;IDA|GO:0031954;positive regulation of protein autophosphorylation;IDA|GO:0032956;regulation of actin cytoskeleton organization;TAS|GO:0035793;positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0043410;positive regulation of MAPK cascade;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043588;skin development;ISS|GO:0045740;positive regulation of DNA replication;IDA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IDA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0048286;lung alveolus development;ISS|GO:0050730;regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050919;negative chemotaxis;IDA|GO:0051781;positive regulation of cell division;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060683;regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:1990401;embryonic lung development;ISS|GO:2000587;negative regulation of platelet-derived growth factor receptor-beta signaling pathway;TAS GO:0000139;Golgi membrane;TAS|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005902;microvillus;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005161;platelet-derived growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA|GO:0008083;growth factor activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS|GO:0046982;protein heterodimerization activity;IPI|GO:0048407;platelet-derived growth factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDGFA https://www.ncbi.nlm.nih.gov/omim/?term=173430 http://www.informatics.jax.org/searchtool/Search.do?query=PDGFA&submit=Quick%0D%16634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFA rs12720025 0.304712 0 0 1 0 0 intronic intronic intronic PDGFA PDGFA ENSG00000197461 Na Na Na Na Na Na Het;A>T 428;12|16 Het;A>T 261;11|9 Hom;A>T 613;0|21 N N - 7 54618010 54618010 C T snp UTR3 *46C>T VSTM2A Vstm2a ENSG00000170419 V-set and transmembrane domain containing 2A chr7:54610018-54638773 Uric Acid; Magnesium GO:0010628;positive regulation of gene expression;IMP|GO:0010884;positive regulation of lipid storage;IMP|GO:0030154;cell differentiation;IEA|GO:0070352;positive regulation of white fat cell proliferation;IMP|GO:0071773;cellular response to BMP stimulus;IEA|GO:0090336;positive regulation of brown fat cell differentiation;IMP GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IBA|GO:0016021;integral component of membrane;IBA GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VSTM2A http://www.informatics.jax.org/searchtool/Search.do?query=VSTM2A&submit=Quick%0D%12698ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSTM2A rs2293343 0.53095 0.5304 0.5701 1 0 0 intronic intronic UTR3 VSTM2A VSTM2A ENSG00000170419(ENST00000302287:c.*46C>T,ENST00000402026:c.*46C>T) Na Na Na Na Na Na Het;C>T 827;23|32 Het;C>T 560;11|26 Hom;C>T 651;0|23 N N - 7 54640917 54640917 A G snp ncRNA_exonic AB074160 rs1851438 0.653754 0 0 1 0 0 intergenic ncRNA_exonic intergenic VSTM2A-OT1(dist=1498),SEC61G(dist=179023) AB074160 ENSG00000224223(dist=1498),ENSG00000228735(dist=2828) Na Na Na Na Na Na Het;A>G 279;18|14 Het;A>G 448;11|19 Hom;A>G 439;0|15 N N - 7 5553451 5553451 T G snp upstream BC044606 rs852447 0.574281 0 0 1 0 0 upstream upstream upstream FBXL18,LOC221946 BC044606,FBXL18 ENSG00000155034 Na Na Na Na Na Na Het;T>G 621;25|24 Het;T>G 494;31|20 Hom;T>G 1114;3|37 N N - 7 5561118 5561118 C G snp ncRNA_exonic LOC221946 rs852434 0.484026 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC221946 BC044606 ENSG00000155034(dist=7689),ENSG00000075624(dist=5664) Na Na Na Na Na Na Het;C>G 796;38|34 Het;C>G 271;41|16 Hom;C>G 1875;0|64 N N - 7 5568366 5568366 A G snp UTR5 -19T>C ACTB Actb ENSG00000075624 actin beta chr7:5566782-5603415 This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008] breast cancer ; monocyte chemoattractant protein 1 (66-77) Homozygous null mutants are embryonic lethal. Homozygotes for a hypomorphic targeted mutation develop normally until embryonic day 8.5; are growth retarded by day 9.5 and die shortly thereafter. Factors involved in megakaryocyte development and platelet production GO:0001895;retina homeostasis;IEP|GO:0006928;movement of cell or subcellular component;TAS|GO:0016579;protein deubiquitination;TAS|GO:0021762;substantia nigra development;IEP|GO:0034329;cell junction assembly;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0045815;positive regulation of gene expression, epigenetic;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0061024;membrane organization;TAS|GO:0070527;platelet aggregation;IMP|GO:0098974;postsynaptic actin cytoskeleton organization;IDA GO:0000790;nuclear chromatin;IDA|GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;ISS|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0030863;cortical cytoskeleton;IEA|GO:0031982;vesicle;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0043209;myelin sheath;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:0097433;dense body;ISS GO:0000166;nucleotide binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0019894;kinesin binding;IPI|GO:0030957;Tat protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA|GO:0042802;identical protein binding;IPI|GO:0050998;nitric-oxide synthase binding;IPI|GO:0098973;structural constituent of postsynaptic actin cytoskeleton;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACTB https://www.uniprot.org/uniprot/P60709 https://hpo.jax.org/app/browse/search?q=ACTB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102630 http://www.informatics.jax.org/searchtool/Search.do?query=ACTB&submit=Quick%0D%1555ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTB rs852423 0.479832 0.5268 0.4408 1 0 0 intronic UTR5 intronic ACTB ACTB(uc003sor.4:c.-19T>C) ENSG00000075624 Na Na Na Na Na Na Het;A>G 1624;84|65 Het;A>G 1168;59|52 Hom;A>G 3467;1|121 N N - 7 55832429 55832429 G GT indel upstream PSPHP1 rs146909187 0.289736 0 0 1 0 0 intergenic intergenic upstream FKBP9P1(dist=60169),SEPT14(dist=28808) DQ599872(dist=16727),CO9(dist=8443) ENSG00000226278 Na Na Na Na Na Na Het;+T 37;9|5 Het;+T 38;13|5 Hom;+T 328;0|14 N N - 7 56986783 56986783 G A snp intergenic LOC100130849 rs200467711 0.579872 0 0 1 0 0 intergenic intergenic intergenic LOC100130849(dist=36944),MIR4283-2(dist=36709) LOC100130849(dist=36944),MIR4283-1(dist=36709) ENSG00000233437(dist=36944),ENSG00000225244(dist=21265) Na Na Na Na Na Na Het;G>A 508;19|19 Het;G>A 118;11|5 Hom;G>A 607;0|19 N N - 7 57069669 57069669 T C snp ncRNA_intronic TNRC18P3 rs1467279 0.793131 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR4283-2(dist=46098),ZNF479(dist=117657) MIR4283-1(dist=46098),DL490813(dist=6981) ENSG00000189166 Na Na Na Na Na Na Het;T>C 101;20|7 Het;T>C 191;31|9 Hom;T>C 269;0|9 N N - 7 57069935 57069935 G C snp ncRNA_intronic TNRC18P3 rs1966122 0 0 0 1 0 0 intergenic intergenic ncRNA_intronic MIR4283-2(dist=46364),ZNF479(dist=117391) MIR4283-1(dist=46364),DL490813(dist=6715) ENSG00000189166 Na Na Na Na Na Na Het;G>C 214;5|10 Het;G>C 275;10|13 Hom;G>C 1252;0|43 N N - 7 57071671 57071671 T C snp ncRNA_exonic TNRC18P3 rs187876791 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR4283-2(dist=48100),ZNF479(dist=115655) MIR4283-1(dist=48100),DL490813(dist=4979) ENSG00000189166 Na Na Na Na Na Na Het;T>C 137;31|8 Het;T>C 283;23|11 Hom;T>C 364;0|13 N N - 7 57071725 57071725 C T snp ncRNA_exonic TNRC18P3 rs62463099 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR4283-2(dist=48154),ZNF479(dist=115601) MIR4283-1(dist=48154),DL490813(dist=4925) ENSG00000189166 Na Na Na Na Na Na Het;C>T 735;28|32 Het;C>T 459;13|23 Hom;C>T 505;0|21 N N - 7 570829 570829 G A snp intergenic FLJ44511 rs113862899 0.21246 0 0 1 0 0 intergenic intergenic intergenic FLJ44511(dist=5960),PRKAR1B(dist=18005) FLJ44511(dist=5960),PRKAR1B(dist=18005) ENSG00000223855(dist=5960),ENSG00000188191(dist=18005) Na Na Na Na Na Na Het;G>A 136;3|10 Het;G>A 76;7|5 Hom;G>A 296;0|10 N N - 7 57128174 57128174 A T snp downstream PHKG1P4 rs12538700 0.905152 0 0 1 0 0 intergenic intergenic downstream MIR4283-2(dist=104603),ZNF479(dist=59152) DL490813(dist=51442),ZNF479(dist=59152) ENSG00000229508 Na Na Na Na Na Na Het;A>T 268;20|12 Het;A>T 210;20|9 Hom;A>T 958;0|32 N N - 7 57128463 57128463 G C snp ncRNA_exonic PHKG1P4 rs62463828 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR4283-2(dist=104892),ZNF479(dist=58863) DL490813(dist=51731),ZNF479(dist=58863) ENSG00000229508 Na Na Na Na Na Na Het;G>C 626;23|27 Het;G>C 237;30|13 Hom;G>C 982;0|36 N N - 7 57128901 57128901 A G snp ncRNA_exonic PHKG1P4 rs62463829 0.947484 0 0 1 0 0 intergenic intergenic ncRNA_exonic MIR4283-2(dist=105330),ZNF479(dist=58425) DL490813(dist=52169),ZNF479(dist=58425) ENSG00000229508 Na Na Na Na Na Na Het;A>G 947;15|27 Het;A>G 282;21|16 Hom;A>G 885;0|25 N N - 7 57144303 57144303 C A snp intergenic MIR4283-2 rs62463855 0.355232 0 0 1 0 0 intergenic intergenic intergenic MIR4283-2(dist=120732),ZNF479(dist=43023) DL490813(dist=67571),ZNF479(dist=43023) ENSG00000229508(dist=15295),ENSG00000185177(dist=43018) Na Na Na Na Na Na Het;C>A 1756;41|46 Het;C>A 407;29|22 Hom;C>A 1729;0|45 N N - 7 57286200 57286200 A G snp ncRNA_intronic AC099654.1 rs4364587 0.650958 0 0 1 0 0 intergenic intergenic ncRNA_intronic GUSBP10(dist=38337),MIR3147(dist=186531) MtDNA_ssA(dist=20462),MIR3147(dist=186531) ENSG00000234089 Na Na Na Na Na Na Het;A>G 36;2|2 Het;A>G 113;2|6 Hom;A>G 71;0|4 N N - 7 57287440 57287440 G A snp ncRNA_intronic AC099654.1 rs4870720 0.545527 0 0 1 0 0 intergenic intergenic ncRNA_intronic GUSBP10(dist=39577),MIR3147(dist=185291) MtDNA_ssA(dist=21702),MIR3147(dist=185291) ENSG00000234089 Na Na Na Na Na Na Het;G>A 51;1|3 Ref Hom;G>A 71;0|4 N N - 7 57324702 57324702 G A snp intergenic GUSBP10 rs11763238 0.26897 0 0 1 0 0 intergenic intergenic intergenic GUSBP10(dist=76839),MIR3147(dist=148029) MtDNA_ssA(dist=58964),MIR3147(dist=148029) ENSG00000238431(dist=29929),ENSG00000266168(dist=148029) Na Na Na Na Na Na Het;G>A 297;18|16 Het;G>A 453;21|23 Hom;G>A 733;0|29 N N - 7 57324755 57324755 G C snp intergenic GUSBP10 rs7792593 0.716454 0 0 1 0 0 intergenic intergenic intergenic GUSBP10(dist=76892),MIR3147(dist=147976) MtDNA_ssA(dist=59017),MIR3147(dist=147976) ENSG00000238431(dist=29982),ENSG00000266168(dist=147976) Na Na Na Na Na Na Het;G>C 156;17|8 Het;G>C 338;18|17 Hom;G>C 352;0|14 N N - 7 57339911 57339911 G C snp intergenic GUSBP10 rs13243303 0.440096 0 0 1 0 0 intergenic intergenic intergenic GUSBP10(dist=92048),MIR3147(dist=132820) MtDNA_ssA(dist=74173),MIR3147(dist=132820) ENSG00000238431(dist=45138),ENSG00000266168(dist=132820) Na Na Na Na Na Na Het;G>C 2065;43|53 Het;G>C 2663;78|70 Hom;G>C 8246;1|187 N N - 7 57339912 57339912 C A snp intergenic GUSBP10 rs13226826 0.440096 0 0 1 0 0 intergenic intergenic intergenic GUSBP10(dist=92049),MIR3147(dist=132819) MtDNA_ssA(dist=74174),MIR3147(dist=132819) ENSG00000238431(dist=45139),ENSG00000266168(dist=132819) Na Na Na Na Na Na Het;C>A 2065;45|54 Het;C>A 2663;79|70 Hom;C>A 8246;1|189 N N - 7 57341912 57341926 GTTTATTTTTCTTTA G indel intergenic GUSBP10 rs139196196 0.447284 0 0 1 0 0 intergenic intergenic intergenic GUSBP10(dist=94049),MIR3147(dist=130805) MtDNA_ssA(dist=76174),MIR3147(dist=130805) ENSG00000238431(dist=47139),ENSG00000266168(dist=130805) Na Na Na Na Na Na Het;-TTTATTTTTCTTTA 80;3|3 Het;-TTTATTTTTCTTTA 287;4|8 Hom;-TTTATTTTTCTTTA 571;0|14 N N - 7 57711076 57711076 T C snp upstream;downstream ENSG00000230796 rs377454694 0 0 0 1 0 0 intergenic intergenic upstream;downstream ZNF716(dist=177811),NONE(dist=NONE) L37717(dist=12272),NONE(dist=NONE) ENSG00000230796;ENSG00000237639 Na Na Na Na Na Na Het;T>C 47;3|2 Ref Hom;T>C 197;0|5 N N - 7 57714880 57714880 C A snp ncRNA_exonic AC064862.3 rs796775742 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic ZNF716(dist=181615),NONE(dist=NONE) L37717(dist=16076),NONE(dist=NONE) ENSG00000234085 Na Na Na Na Na Na Het;C>A 299;3|8 Het;C>A 92;2|3 Hom;C>A 107;0|3 N N - 7 57714882 57714882 C A snp ncRNA_exonic AC064862.3 rs796792513 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic ZNF716(dist=181617),NONE(dist=NONE) L37717(dist=16078),NONE(dist=NONE) ENSG00000234085 Na Na Na Na Na Na Het;C>A 299;3|8 Het;C>A 92;2|3 Hom;C>A 107;0|3 N N - 7 57714901 57714901 G T snp ncRNA_exonic AC064862.3 rs76346327 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic ZNF716(dist=181636),NONE(dist=NONE) L37717(dist=16097),NONE(dist=NONE) ENSG00000234085 Na Na Na Na Na Na Het;G>T 362;4|10 Het;G>T 129;1|4 Hom;G>T 107;0|3 N N - 7 61737448 61737448 G A snp intergenic NONE rs149383348 0.000599042 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),ZNF733P(dist=1014222) NONE(dist=NONE),ZNF733P(dist=1014222) NONE(dist=NONE),ENSG00000233918(dist=84421) Na Na Na Na Na Na Het;G>A 374;4|13 Ref Hom;G>A 539;1|20 N N - 7 61739349 61739349 C A snp intergenic NONE rs75435174 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),ZNF733P(dist=1012321) NONE(dist=NONE),ZNF733P(dist=1012321) NONE(dist=NONE),ENSG00000233918(dist=82520) Na Na Na Na Na Na Het;C>A 341;3|8 Het;C>A 462;8|15 Hom;C>A 531;0|10 N N - 7 61817924 61817924 A C snp intergenic NONE rs7781350 0 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),ZNF733P(dist=933746) NONE(dist=NONE),ZNF733P(dist=933746) NONE(dist=NONE),ENSG00000233918(dist=3945) Na Na Na Na Na Na Het;A>C 159;1|5 Het;A>C 46;1|3 Hom;A>C 71;0|4 N N - 7 61822243 61822243 T C snp downstream AC128676.1 rs75190137 0 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),ZNF733P(dist=929427) NONE(dist=NONE),ZNF733P(dist=929427) ENSG00000233918 Na Na Na Na Na Na Het;T>C 158;9|6 Ref Hom;T>C 197;0|5 N N - 7 61822244 61822244 T G snp downstream AC128676.1 rs371854036 0 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),ZNF733P(dist=929426) NONE(dist=NONE),ZNF733P(dist=929426) ENSG00000233918 Na Na Na Na Na Na Het;T>G 158;9|6 Ref Hom;T>G 197;0|5 N N - 7 61822246 61822246 G C snp downstream AC128676.1 rs144943700 0 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),ZNF733P(dist=929424) NONE(dist=NONE),ZNF733P(dist=929424) ENSG00000233918 Na Na Na Na Na Na Het;G>C 200;9|6 Ref Hom;G>C 197;0|5 N N - 7 62574236 62574236 T G snp ncRNA_exonic SAPCD2P4 rs6972535 0 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),ZNF733P(dist=177434) NONE(dist=NONE),ZNF733P(dist=177434) ENSG00000234312 Na Na Na Na Na Na Het;T>G 517;10|25 Het;T>G 236;19|11 Hom;T>G 674;0|26 N N - 7 62574489 62574489 A G snp ncRNA_exonic SAPCD2P4 rs6968327 0.862021 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),ZNF733P(dist=177181) NONE(dist=NONE),ZNF733P(dist=177181) ENSG00000234312 Na Na Na Na Na Na Het;A>G 303;10|13 Het;A>G 74;16|5 Hom;A>G 390;0|15 N N - 7 62574529 62574529 C T snp ncRNA_exonic SAPCD2P4 rs111488582 0.216454 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),ZNF733P(dist=177141) NONE(dist=NONE),ZNF733P(dist=177141) ENSG00000234312 Na Na Na Na Na Na Het;C>T 432;11|12 Het;C>T 50;16|3 Hom;C>T 771;0|18 N N - 7 62574533 62574533 A G snp ncRNA_exonic SAPCD2P4 rs6968344 0.828474 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),ZNF733P(dist=177137) NONE(dist=NONE),ZNF733P(dist=177137) ENSG00000234312 Na Na Na Na Na Na Het;A>G 432;11|11 Het;A>G 50;16|3 Hom;A>G 771;0|18 N N - 7 62574847 62574847 C T snp ncRNA_exonic SAPCD2P4 rs150168968 0.216454 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),ZNF733P(dist=176823) NONE(dist=NONE),ZNF733P(dist=176823) ENSG00000234312 Na Na Na Na Na Na Het;C>T 259;8|12 Het;C>T 159;18|10 Hom;C>T 575;0|22 N N - 7 62577991 62577991 G C snp ncRNA_intronic SEPT14P1 rs4718791 0.878994 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),ZNF733P(dist=173679) NONE(dist=NONE),ZNF733P(dist=173679) ENSG00000231523 Na Na Na Na Na Na Het;G>C 1600;88|76 Het;G>C 1310;117|69 Hom;G>C 5703;0|213 N N - 7 62578111 62578111 G A snp ncRNA_intronic SEPT14P1 rs55874424 0.216054 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),ZNF733P(dist=173559) NONE(dist=NONE),ZNF733P(dist=173559) ENSG00000231523 Na Na Na Na Na Na Het;G>A 461;30|21 Het;G>A 242;48|13 Hom;G>A 1833;0|61 N N - 7 62599257 62599257 C T snp ncRNA_splicing SEPT14P1 rs1609527 0.879393 0 0 1 0 0 intergenic intergenic ncRNA_splicing NONE(dist=NONE),ZNF733P(dist=152413) NONE(dist=NONE),ZNF733P(dist=152413) ENSG00000231523(ENST00000458703:exon4:c.294+1G>A) Na Na Na Na Na Na Het;C>T 518;21|23 Het;C>T 84;6|6 Hom;C>T 517;0|17 N N - 7 62599308 62599308 C T snp ncRNA_exonic SEPT14P1 rs1967430 0.879193 0 0 1 0 0 intergenic intergenic ncRNA_exonic NONE(dist=NONE),ZNF733P(dist=152362) NONE(dist=NONE),ZNF733P(dist=152362) ENSG00000231523 Na Na Na Na Na Na Het;C>T 718;27|35 Het;C>T 200;11|12 Hom;C>T 850;0|33 N N - 7 62669789 62669789 A G snp ncRNA_intronic AC092001.1 rs62472870 0.337061 0 0 1 0 0 intergenic intergenic ncRNA_intronic NONE(dist=NONE),ZNF733P(dist=81881) NONE(dist=NONE),ZNF733P(dist=81881) ENSG00000237572 Na Na Na Na Na Na Het;A>G 72;7|4 Het;A>G 190;9|10 Hom;A>G 720;0|24 N N - 7 62672217 62672217 T C snp downstream AC092001.1 rs9768671 0.511581 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),ZNF733P(dist=79453) NONE(dist=NONE),ZNF733P(dist=79453) ENSG00000237572 Na Na Na Na Na Na Het;T>C 128;8|6 Het;T>C 106;10|6 Hom;T>C 465;0|16 N N - 7 62692901 62692901 G A snp downstream PHKG1P1 rs9691373 0.214058 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),ZNF733P(dist=58769) NONE(dist=NONE),ZNF733P(dist=58769) ENSG00000226075,ENSG00000244550 Na Na Na Na Na Na Het;G>A 379;35|17 Het;G>A 366;17|20 Hom;G>A 1151;0|42 N N - 7 62693263 62693263 A AGAGG indel downstream PHKG1P1 rs149161273 0 0 0 1 0 0 intergenic intergenic downstream NONE(dist=NONE),ZNF733P(dist=58407) NONE(dist=NONE),ZNF733P(dist=58407) ENSG00000226075,ENSG00000244550 Na Na Na Na Na Na Het;+GAGG 1486;38|40 Het;+GAGG 1314;28|35 Hom;+GAGG 2375;0|53 N N - 7 64042927 64042927 A C snp upstream AC016769.2 rs6460167 0.742212 0 0 1 0 0 ncRNA_intronic ncRNA_intronic upstream LOC100128885 LOC100128885 ENSG00000224669 Na Na Na Na Na Na Het;A>C 382;16|16 Het;A>C 291;8|12 Hom;A>C 823;0|25 N N - 7 64074867 64074867 C CT indel ncRNA_intronic LOC100128885 rs34528069 0.598842 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic LOC100128885 LOC100128885 ENSG00000224669(dist=31282),ENSG00000196247(dist=51644) Na Na Na Na Na Na Het;+T 666;37|30 Het;+T 690;20|29 Hom;+T 1318;0|42 N N - 7 64077521 64077521 A G snp ncRNA_exonic LOC100128885 rs1867918 0.599042 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intergenic LOC100128885 LOC100128885 ENSG00000224669(dist=33936),ENSG00000196247(dist=48990) Na Na Na Na Na Na Het;A>G 605;20|26 Het;A>G 757;24|28 Hom;A>G 1474;0|52 N N - 7 64152353 64152353 A G snp intronic ZNF107 Zfp729b ENSG00000196247 zinc finger protein 107 chr7:64126511-64171404 This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Calcium GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF107 https://www.ncbi.nlm.nih.gov/omim/?term=603989 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF107&submit=Quick%0D%16303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF107 rs4718101 0.549321 0.5105 0.5472 1 0 0 intronic intronic intronic ZNF107 ZNF107 ENSG00000196247 Na Na Na Na Na Na Het;A>G 118;3|7 Ref Hom;A>G 71;0|4 N N - 7 65541185 65541185 C T snp intronic ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs1183245 0.531949 0 0 1 0 0 intronic intronic intronic ASL ASL ENSG00000126522 Na Na Na Na Na Na Het;C>T 216;4|10 Het;C>T 64;5|4 Hom;C>T 370;0|14 N N - 7 65551931 65551931 T C snp UTR3 *71T>C ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs313830 0.75 0 0 1 0 0 intronic UTR3 intronic ASL ASL(uc011kdu.1:c.*71T>C,uc011kdv.1:c.*71T>C) ENSG00000126522 Na Na Na Na Na Na Het;T>C 323;7|10 Het;T>C 154;6|6 Hom;T>C 181;0|5 N N - 7 65552497 65552497 A G snp intronic ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs313829 0.676917 0 0 1 0 0 intronic intronic intronic ASL ASL ENSG00000126522 Na Na Na Na Na Na Het;A>G 313;13|11 Het;A>G 257;8|8 Hom;A>G 596;0|17 N N - 7 65552614 65552614 T C snp intronic ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs313828 0.750998 0 0 1 0 0 intronic intronic intronic ASL ASL ENSG00000126522 Na Na Na Na Na Na Het;T>C 250;13|9 Het;T>C 353;10|14 Hom;T>C 309;0|9 N N - 7 65554352 65554352 C T snp intronic ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs160647 0.75 0.7691 0.7615 1 0 0 intronic intronic intronic ASL ASL ENSG00000126522,ENSG00000249319 Na Na Na Na Na Na Het;C>T 184;17|8 Het;C>T 235;10|10 Hom;C>T 616;0|21 N N - 7 65554385 65554385 C T snp intronic ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs2460432 0.576877 0.6682 0 1 0 0 intronic intronic intronic ASL ASL ENSG00000126522,ENSG00000249319 Na Na Na Na Na Na Het;C>T 109;11|5 Het;C>T 92;5|4 Hom;C>T 266;0|10 N N - 7 65556936 65556936 G C snp intronic ASL Asl ENSG00000126522 argininosuccinate lyase chr7:65540785-65558545 This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. Urea cycle GO:0000050;urea cycle;TAS|GO:0006526;arginine biosynthetic process;IEA|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0042450;arginine biosynthetic process via ornithine;IBA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004056;argininosuccinate lyase activity;TAS|GO:0005515;protein binding;IPI|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASL https://www.uniprot.org/uniprot/P04424 https://hpo.jax.org/app/browse/search?q=ASL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608310 http://www.informatics.jax.org/searchtool/Search.do?query=ASL&submit=Quick%0D%5947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASL rs1167406 0.578275 0.6684 0 1 0 0 intronic intronic intronic ASL ASL ENSG00000126522,ENSG00000249319 Na Na Na Na Na Na Het;G>C 471;12|22 Het;G>C 490;21|21 Hom;G>C 440;0|17 N N - 7 65579722 65579722 G T snp UTR5 -228G>T CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs6946143 0.527756 0 0 1 0 0 upstream upstream UTR5 CRCP CRCP ENSG00000241258(ENST00000360415:c.-228G>T,ENST00000395326:c.-228G>T) Na Na Na Na Na Na Het;G>T 171;14|8 Het;G>T 277;3|9 Hom;G>T 473;1|14 N N - 7 65580166 65580166 C G snp intronic CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs35034167 0.577077 0 0 1 0 0 intronic intronic intronic CRCP CRCP ENSG00000241258,ENSG00000249319 Na Na Na Na Na Na Het;C>G 417;8|14 Het;C>G 225;3|7 Hom;C>G 265;0|8 N N - 7 65599446 65599446 G A snp ncRNA_intronic AC068533.3 rs6958484 0.526957 0 0 1 0 0 intronic intronic ncRNA_intronic CRCP CRCP ENSG00000234185 Na Na Na Na Na Na Het;G>A 182;9|7 Ref Hom;G>A 350;0|11 N N - 7 65610614 65610614 A G snp ncRNA_intronic AC068533.3 rs316324 0.7502 0 0 1 0 0 intronic intronic ncRNA_intronic CRCP CRCP ENSG00000234185 Na Na Na Na Na Na Het;A>G 306;13|11 Het;A>G 253;16|9 Hom;A>G 282;0|8 N N - 7 65617595 65617595 T C snp UTR3 *251T>C CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs875971 0.527157 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CRCP(NM_014478:c.*251T>C,NM_001142414:c.*251T>C,NM_001040648:c.*251T>C,NM_001040647:c.*251T>C) CRCP(uc003tus.3:c.*251T>C,uc011kdw.2:c.*251T>C,uc003tut.3:c.*251T>C,uc003tuu.3:c.*251T>C) ENSG00000234185 Na Na Na Na Na Na Het;T>C 2082;90|88 Het;T>C 1879;76|83 Hom;T>C 4393;0|161 N N - 7 65617971 65617971 G A snp UTR3 *627G>A CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs316305 0.75 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CRCP(NM_014478:c.*627G>A,NM_001142414:c.*627G>A,NM_001040648:c.*627G>A,NM_001040647:c.*627G>A) CRCP(uc003tus.3:c.*627G>A,uc011kdw.2:c.*627G>A,uc003tut.3:c.*627G>A,uc003tuu.3:c.*627G>A) ENSG00000234185 Na Na Na Na Na Na Het;G>A 1679;64|70 Het;G>A 1253;58|56 Hom;G>A 3446;0|124 N N - 7 65618674 65618674 G A snp UTR3 *1330G>A CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs316306 0.7502 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CRCP(NM_014478:c.*1330G>A,NM_001142414:c.*1330G>A,NM_001040648:c.*1330G>A,NM_001040647:c.*1330G>A) CRCP(uc003tus.3:c.*1330G>A,uc011kdw.2:c.*1330G>A,uc003tut.3:c.*1330G>A,uc003tuu.3:c.*1330G>A) ENSG00000234185 Na Na Na Na Na Na Het;G>A 1718;83|76 Het;G>A 1882;94|86 Hom;G>A 4298;0|158 N N - 7 65619104 65619104 G A snp UTR3 *1760G>A CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs1129531 0.577276 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CRCP(NM_014478:c.*1760G>A,NM_001142414:c.*1760G>A,NM_001040648:c.*1760G>A,NM_001040647:c.*1760G>A) CRCP(uc003tus.3:c.*1760G>A,uc011kdw.2:c.*1760G>A,uc003tut.3:c.*1760G>A,uc003tuu.3:c.*1760G>A) ENSG00000234185 Na Na Na Na Na Na Het;G>A 1455;82|73 Het;G>A 1146;59|53 Hom;G>A 3726;0|150 N N - 7 65619205 65619205 T C snp UTR3 *1861T>C CRCP Crcp ENSG00000241258 CGRP receptor component chr7:65579591-65619555 This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Aorta; Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006383;transcription from RNA polymerase III promoter;IDA|GO:0006384;transcription initiation from RNA polymerase III promoter;IBA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0044237;cellular metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009360;DNA polymerase III complex;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0001056;RNA polymerase III activity;IBA|GO:0001635;calcitonin gene-related peptide receptor activity;IEA|GO:0003824;catalytic activity;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRCP https://www.ncbi.nlm.nih.gov/omim/?term=606121 http://www.informatics.jax.org/searchtool/Search.do?query=CRCP&submit=Quick%0D%19658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRCP rs2460427 0.75 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic CRCP(NM_014478:c.*1861T>C,NM_001142414:c.*1861T>C,NM_001040648:c.*1861T>C,NM_001040647:c.*1861T>C) CRCP(uc003tus.3:c.*1861T>C,uc011kdw.2:c.*1861T>C,uc003tut.3:c.*1861T>C,uc003tuu.3:c.*1861T>C) ENSG00000234185 Na Na Na Na Na Na Het;T>C 821;19|39 Het;T>C 473;33|25 Hom;T>C 1386;0|52 N N - 7 66019190 66019190 G A snp ncRNA_exonic LOC493754 rs13536 0.623403 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic LOC493754 LOC493754 ENSG00000232559 Na Na Na Na Na Na Het;G>A 946;63|43 Het;G>A 821;34|36 Hom;G>A 2632;0|96 N N - 7 66019390 66019390 G T snp ncRNA_exonic LOC493754 rs801209 0.623403 0 0 1 0 0 ncRNA_exonic intronic ncRNA_intronic LOC493754 LOC493754 ENSG00000232559 Na Na Na Na Na Na Het;G>T 2079;134|93 Het;G>T 1701;116|73 Hom;G>T 5333;0|179 N N - 7 66019631 66019631 A G snp ncRNA_exonic LOC493754 rs801208 0.623203 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic LOC493754 LOC493754(uc010lac.3:c.-9002T>C) ENSG00000232559 Na Na Na Na Na Na Het;A>G 2720;113|110 Het;A>G 2355;118|103 Hom;A>G 7101;3|246 N N - 7 66021966 66021966 C G snp ncRNA_exonic AC006001.1 rs801206 0.623203 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic LOC493754 LOC493754 ENSG00000177418,ENSG00000232491 Na Na Na Na Na Na Het;C>G 350;10|14 Het;C>G 333;6|15 Hom;C>G 771;0|29 N N - 7 66038472 66038472 G A snp ncRNA_exonic LOC493754 rs13240501 0.625998 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic LOC493754 LOC493754(uc010lac.3:c.-27843C>T) ENSG00000232559 Na Na Na Na Na Na Het;G>A 1698;84|86 Het;G>A 904;91|52 Hom;G>A 4320;2|167 N N - 7 66057154 66057154 T C snp ncRNA_intronic ENSG00000232559 rs1796222 0.784145 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC493754 LOC493754 ENSG00000232559 Na Na Na Na Na Na Het;T>C 485;11|13 Het;T>C 303;6|11 Hom;T>C 233;0|7 N N - 7 66105163 66105163 C G snp UTR3 *944C>G KCTD7 Kctd7 ENSG00000243335 potassium channel tetramerization domain containing 7 chr7:66093868-66276446 This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] Aorta A high throughput phenotypic analysis did not reveal any abnormal phenotypes. Antigen processing: Ubiquitination & Proteasome degradation GO:0043687;post-translational protein modification;TAS|GO:0051260;protein homooligomerization;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCTD7 https://hpo.jax.org/app/browse/search?q=KCTD7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611725 http://www.informatics.jax.org/searchtool/Search.do?query=KCTD7&submit=Quick%0D%19773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCTD7 rs9791712 0.623802 0 0 1 0 0 UTR3 UTR3 UTR3 KCTD7(NM_153033:c.*944C>G) KCTD7(uc003tve.3:c.*944C>G) ENSG00000243335(ENST00000275532:c.*944C>G) Na Na Na Na Na Na Het;C>G 473;70|26 Het;C>G 517;46|28 Hom;C>G 1514;0|56 N N - 7 66105198 66105198 C A snp UTR3 *979C>A KCTD7 Kctd7 ENSG00000243335 potassium channel tetramerization domain containing 7 chr7:66093868-66276446 This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] Aorta A high throughput phenotypic analysis did not reveal any abnormal phenotypes. Antigen processing: Ubiquitination & Proteasome degradation GO:0043687;post-translational protein modification;TAS|GO:0051260;protein homooligomerization;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCTD7 https://hpo.jax.org/app/browse/search?q=KCTD7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611725 http://www.informatics.jax.org/searchtool/Search.do?query=KCTD7&submit=Quick%0D%19773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCTD7 rs9791713 0.623602 0 0 1 0 0 UTR3 UTR3 UTR3 KCTD7(NM_153033:c.*979C>A) KCTD7(uc003tve.3:c.*979C>A) ENSG00000243335(ENST00000275532:c.*979C>A) Na Na Na Na Na Na Het;C>A 701;71|35 Het;C>A 444;39|23 Hom;C>A 1188;0|44 N N - 7 66106875 66106875 A G snp UTR3 *2656A>G KCTD7 Kctd7 ENSG00000243335 potassium channel tetramerization domain containing 7 chr7:66093868-66276446 This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] Aorta A high throughput phenotypic analysis did not reveal any abnormal phenotypes. Antigen processing: Ubiquitination & Proteasome degradation GO:0043687;post-translational protein modification;TAS|GO:0051260;protein homooligomerization;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCTD7 https://hpo.jax.org/app/browse/search?q=KCTD7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611725 http://www.informatics.jax.org/searchtool/Search.do?query=KCTD7&submit=Quick%0D%19773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCTD7 rs1860469 0.623403 0 0 1 0 0 UTR3 UTR3 UTR3 KCTD7(NM_001167961:c.*1494A>G,NM_153033:c.*2656A>G) KCTD7(uc003tvd.4:c.*1494A>G,uc003tve.3:c.*2656A>G) ENSG00000243335(ENST00000275532:c.*2656A>G) Na Na Na Na Na Na Het;A>G 325;18|15 Het;A>G 195;9|10 Hom;A>G 672;0|25 N N - 7 66119420 66119420 A G snp upstream LOC100996437 rs881285 0.621206 0 0 1 0 0 upstream intronic intronic LOC100996437 RABGEF1 ENSG00000243335 Na Na Na Na Na Na Het;A>G 741;24|27 Het;A>G 312;15|13 Hom;A>G 634;0|22 N N - 7 66132291 66132291 T C snp ncRNA_intronic AC006001.2 rs1638725 0.776358 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC100996437 RABGEF1 ENSG00000226824 Na Na Na Na Na Na Het;T>C 139;9|5 Het;T>C 173;3|8 Hom;T>C 546;0|18 N N - 7 66132512 66132512 T C snp ncRNA_exonic LOC100996437 rs6951302 0.621206 0 0 1 0 0 ncRNA_exonic intronic ncRNA_exonic LOC100996437 RABGEF1 ENSG00000226824 Na Na Na Na Na Na Het;T>C 2973;93|131 Het;T>C 2455;87|113 Hom;T>C 5207;0|188 N N - 7 67681671 67681671 A T snp ncRNA_intronic AC093655.1 rs6976986 0.664736 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC102723427(dist=183994),LOC100507468(dist=1379453) BC017910(dist=876659),U6(dist=1184517) ENSG00000226829 Na Na Na Na Na Na Het;A>T 56;8|3 Het;A>T 251;3|8 Hom;A>T 122;0|4 N N - 7 67947092 67947092 G A snp intergenic LOC102723427 rs12532449 0.597045 0 0 1 0 0 intergenic intergenic intergenic LOC102723427(dist=449415),LOC100507468(dist=1114032) BC017910(dist=1142080),U6(dist=919096) ENSG00000226829(dist=193872),ENSG00000228429(dist=158693) Na Na Na Na Na Na Het;G>A 704;19|22 Het;G>A 482;19|19 Hom;G>A 704;0|23 N N - 7 68346653 68346653 T C snp intergenic LOC102723427 rs28847287 0.673722 0 0 1 0 0 intergenic intergenic intergenic LOC102723427(dist=848976),LOC100507468(dist=714471) BC017910(dist=1541641),U6(dist=519535) ENSG00000222428(dist=157618),ENSG00000233689(dist=158486) Na Na Na Na Na Na Het;T>C 365;15|18 Het;T>C 127;15|8 Hom;T>C 584;0|23 N N - 7 6851361 6851361 A C snp intronic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs201446427 0.152955 0 0 1 0 0 intronic intronic intronic CCZ1B CCZ1B ENSG00000146574 Na Na Na Na Na Na Het;A>C 177;4|6 Ref Hom;A>C 171;0|5 N N - 7 6851397 6851397 G A snp intronic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs62441808 0.302716 0 0 1 0 0 intronic intronic intronic CCZ1B CCZ1B ENSG00000146574 Na Na Na Na Na Na Het;G>A 198;5|7 Ref Hom;G>A 337;0|10 N N - 7 6854512 6854512 G A snp intronic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs58851147 0.328474 0.2715 0.2842 1 0 0 intronic intronic intronic CCZ1B CCZ1B ENSG00000146574 Na Na Na Na Na Na Het;G>A 955;19|36 Ref Hom;G>A 972;0|32 N N - 7 68847611 68847611 G A snp ncRNA_intronic AC092100.1 rs12698790 0.70607 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC102723427(dist=1349934),LOC100507468(dist=213513) NONE(dist=NONE),U6(dist=18577) ENSG00000225718 Na Na Na Na Na Na Het;G>A 699;73|37 Ref Hom;G>A 3955;0|147 N N - 7 68847774 68847774 C T snp ncRNA_intronic AC092100.1 rs12698791 0.705871 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC102723427(dist=1350097),LOC100507468(dist=213350) NONE(dist=NONE),U6(dist=18414) ENSG00000225718 Na Na Na Na Na Na Het;C>T 98;4|4 Ref Hom;C>T 230;0|7 N N - 7 6895453 6895453 G C snp ncRNA_intronic UNC93B2 rs9720029 0.501997 0 0 1 0 0 intergenic intergenic ncRNA_intronic CCZ1B(dist=29527),MIR3683(dist=211142) CCZ1B(dist=29527),LOC100131257(dist=219948) ENSG00000155070 Na Na Na Na Na Na Het;G>C 89;10|5 Het;G>C 41;15|4 Hom;G>C 272;0|10 N N - 7 7002671 7002671 A T snp intergenic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs9690534 0.672724 0 0 1 0 0 intergenic intergenic intergenic CCZ1B(dist=136745),MIR3683(dist=103924) CCZ1B(dist=136745),LOC100131257(dist=112730) ENSG00000242731(dist=23437),ENSG00000221011(dist=32175) Na Na Na Na Na Na Het;A>T 445;16|20 Het;A>T 301;19|15 Hom;A>T 1342;0|48 N N - 7 70249868 70249868 G A snp intronic AUTS2 Auts2 ENSG00000158321 AUTS2, activator of transcription and developmental regulator chr7:69063905-70258054 This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AUTS2 https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607270 http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2 rs3817575 0.224641 0.1428 0 1 0 0 intronic intronic intronic AUTS2 AUTS2 ENSG00000158321 Na Na Na Na Na Na Het;G>A 417;19|17 Ref Hom;G>A 722;0|28 N N - 7 70249908 70249908 C T snp intronic AUTS2 Auts2 ENSG00000158321 AUTS2, activator of transcription and developmental regulator chr7:69063905-70258054 This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AUTS2 https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607270 http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2 rs2293504 0.231629 0.1425 0.1661 1 0 0 intronic intronic intronic AUTS2 AUTS2 ENSG00000158321 Na Na Na Na Na Na Het;C>T 650;28|31 Ref Hom;C>T 1788;0|69 N N - 7 7026563 7026563 G T snp intergenic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs10262617 0.570887 0 0 1 0 0 intergenic intergenic intergenic CCZ1B(dist=160637),MIR3683(dist=80032) CCZ1B(dist=160637),LOC100131257(dist=88838) ENSG00000242731(dist=47329),ENSG00000221011(dist=8283) Na Na Na Na Na Na Het;G>T 238;2|8 Ref Hom;G>T 119;0|4 N N - 7 7026609 7026609 A G snp intergenic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs10249406 0.365216 0 0 1 0 0 intergenic intergenic intergenic CCZ1B(dist=160683),MIR3683(dist=79986) CCZ1B(dist=160683),LOC100131257(dist=88792) ENSG00000242731(dist=47375),ENSG00000221011(dist=8237) Na Na Na Na Na Na Het;A>G 527;9|13 Het;A>G 185;11|5 Hom;A>G 510;0|10 N N - 7 7026617 7026617 G A snp intergenic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs10262635 0.560304 0 0 1 0 0 intergenic intergenic intergenic CCZ1B(dist=160691),MIR3683(dist=79978) CCZ1B(dist=160691),LOC100131257(dist=88784) ENSG00000242731(dist=47383),ENSG00000221011(dist=8229) Na Na Na Na Na Na Het;G>A 545;10|15 Het;G>A 215;12|7 Hom;G>A 545;0|14 N N - 7 7026827 7026827 T G snp intergenic CCZ1B Ccz1 ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated chr7:6833765-6866401 RAB GEFs exchange GTP for GDP on RABs GO:0016192;vesicle-mediated transport;IBA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016235;aggresome;IDA|GO:0031982;vesicle;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCZ1B https://www.uniprot.org/uniprot/P86790 http://www.informatics.jax.org/searchtool/Search.do?query=CCZ1B&submit=Quick%0D%8895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCZ1B rs34852575 0.254593 0 0 1 0 0 intergenic intergenic intergenic CCZ1B(dist=160901),MIR3683(dist=79768) CCZ1B(dist=160901),LOC100131257(dist=88574) ENSG00000242731(dist=47593),ENSG00000221011(dist=8019) Na Na Na Na Na Na Het;T>G 600;19|25 Het;T>G 434;25|20 Hom;T>G 1099;2|41 N N - 7 70490413 70490413 G A snp intergenic AUTS2 Auts2 ENSG00000158321 AUTS2, activator of transcription and developmental regulator chr7:69063905-70258054 This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AUTS2 https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607270 http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2 rs10239439 0.508586 0 0 1 0 0 intergenic intergenic intergenic AUTS2(dist=232359),WBSCR17(dist=107110) AUTS2(dist=232528),WBSCR17(dist=107110) ENSG00000236978(dist=187414),ENSG00000185274(dist=106742) Na Na Na Na Na Na Het;G>A 250;7|9 Het;G>A 161;7|9 Hom;G>A 845;0|32 N N - 7 70490427 70490427 C T snp intergenic AUTS2 Auts2 ENSG00000158321 AUTS2, activator of transcription and developmental regulator chr7:69063905-70258054 This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] ADHD | attention-deficit hyperactivity disorder; several psychiatric disorders; Bipolar Disorder; Adiponectin; Autistic Disorder; Psychiatric Disorders; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease; Celiac Disease|; Blood Pressure; Tobacco Use Disorder; Hip; Cholesterol Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0008150;biological_process;ND|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051571;positive regulation of histone H3-K4 methylation;IDA|GO:0060013;righting reflex;IEA|GO:0098582;innate vocalization behavior;IEA|GO:2000620;positive regulation of histone H4-K16 acetylation;IDA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AUTS2 https://hpo.jax.org/app/browse/search?q=AUTS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607270 http://www.informatics.jax.org/searchtool/Search.do?query=AUTS2&submit=Quick%0D%10194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AUTS2 rs10269838 0.45607 0 0 1 0 0 intergenic intergenic intergenic AUTS2(dist=232373),WBSCR17(dist=107096) AUTS2(dist=232542),WBSCR17(dist=107096) ENSG00000236978(dist=187428),ENSG00000185274(dist=106728) Na Na Na Na Na Na Het;C>T 201;4|8 Het;C>T 149;7|8 Hom;C>T 551;0|20 N N - 7 7130385 7130385 A G snp ncRNA_exonic LOC100131257 rs985054 0.698882 0 0 1 0 0 ncRNA_exonic UTR3 intergenic LOC100131257 LOC100131257(uc021zzk.1:c.*5478T>C) ENSG00000239696(dist=11012),ENSG00000201218(dist=11819) Na Na Na Na Na Na Het;A>G 2112;70|85 Het;A>G 1563;69|64 Hom;A>G 4818;0|175 N N - 7 74225480 74225480 T C snp nonsynonymous SNV A755G H252R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) GTF2IRD2 Gtf2ird2 ENSG00000196275 GTF2I repeat domain containing 2 chr7:74210483-74267847 This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IBA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IBA|GO:0005737;cytoplasm;IBA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GTF2IRD2 https://www.ncbi.nlm.nih.gov/omim/?term=608899 http://www.informatics.jax.org/searchtool/Search.do?query=GTF2IRD2&submit=Quick%0D%16311ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2IRD2 rs200821956 0.0307508 0 0.1241 0.00 0 9 exonic exonic exonic GTF2IRD2 GTF2IRD2 ENSG00000196275 nonsynonymous SNV nonsynonymous SNV unknown GTF2IRD2:NM_173537:exon10:c.A755G:p.H252R, GTF2IRD2:uc011kfi.2:exon10:c.A755G:p.H252R,GTF2IRD2:uc003ubd.1:exon10:c.A755G:p.H252R, UNKNOWN Het;T>C 98;6|5 Ref Hom;T>C 165;0|5 N N - 7 7590175 7590175 C A snp ncRNA_exonic LOC101927391 rs4724999 0.51258 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927391 COL28A1(dist=14715),MIOS(dist=16441) ENSG00000272732 Na Na Na Na Na Na Het;C>A 1084;45|45 Het;C>A 1226;59|57 Hom;C>A 3150;0|113 N N - 7 7592614 7592614 A C snp ncRNA_intronic LOC101927391 rs6977450 0.561102 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927391 COL28A1(dist=17154),MIOS(dist=14002) ENSG00000272894 Na Na Na Na Na Na Het;A>C 538;11|16 Het;A>C 691;6|22 Hom;A>C 1140;0|36 N N - 7 7592633 7592633 A C snp ncRNA_intronic LOC101927391 rs6977577 0.561701 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927391 COL28A1(dist=17173),MIOS(dist=13983) ENSG00000272894 Na Na Na Na Na Na Het;A>C 334;9|12 Het;A>C 332;4|12 Hom;A>C 831;0|27 N N - 7 7592679 7592679 T C snp ncRNA_intronic LOC101927391 rs6943655 0.555112 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101927391 COL28A1(dist=17219),MIOS(dist=13937) ENSG00000272894 Na Na Na Na Na Na Het;T>C 116;3|4 Het;T>C 203;4|6 Hom;T>C 148;0|5 N N - 7 7645806 7645806 A G snp intronic MIOS Mios ENSG00000164654 meiosis regulator for oocyte development chr7:7606503-7648560 GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP GO:0005765;lysosomal membrane;IDA|GO:0061700;GATOR2 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MIOS https://www.ncbi.nlm.nih.gov/omim/?term=615359 http://www.informatics.jax.org/searchtool/Search.do?query=MIOS&submit=Quick%0D%11356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIOS rs2286209 0.619609 0 0 1 0 0 intronic intronic intronic MIOS MIOS ENSG00000164654 Na Na Na Na Na Na Het;A>G 643;26|24 Het;A>G 625;18|25 Hom;A>G 1180;1|37 N N - 7 77762013 77762013 C T snp intronic MAGI2 Magi2 ENSG00000187391 membrane associated guanylate kinase, WW and PDZ domain containing 2 chr7:77646393-79082890 The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] Aorta; Antidepressive Agents; Blood Pressure Determination; several psychiatric disorders; Dehydroepiandrosterone; Hippocampus; hippocampal atrophy; Celiac Disease|Colitis, Ulcerative; Tobacco Use Disorder; Celiac Disease|Down Syndrome; Body Height; Echocardiography; Body Weight Changes; Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease ; Triglycerides; Apolipoproteins C; Arteries; Hip; Magnesium; Celiac Disease|; Cholesterol, LDL; Platelet Aggregation Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. Nephrin family interactions GO:0002092;positive regulation of receptor internalization;IDA|GO:0003402;planar cell polarity pathway involved in axis elongation;NAS|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010976;positive regulation of neuron projection development;ISS|GO:0016310;phosphorylation;IEA|GO:0030336;negative regulation of cell migration;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;ISS|GO:0043113;receptor clustering;ISS|GO:0051291;protein heterooligomerization;ISS|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0060395;SMAD protein signal transduction;IEA|GO:0071850;mitotic cell cycle arrest;ISS|GO:0072015;glomerular visceral epithelial cell development;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2000809;positive regulation of synaptic vesicle clustering;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0036057;slit diaphragm;ISS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;ISS GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IDA|GO:0031697;beta-1 adrenergic receptor binding;IPI|GO:0032947;protein complex scaffold;IEA|GO:0046332;SMAD binding;IEA|GO:0070699;type II activin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAGI2 https://hpo.jax.org/app/browse/search?q=MAGI2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606382 http://www.informatics.jax.org/searchtool/Search.do?query=MAGI2&submit=Quick%0D%15820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI2 rs2074646 0.613219 0 0 1 0 0 intronic intronic intronic MAGI2 MAGI2 ENSG00000187391 Na Na Na Na Na Na Het;C>T 104;3|4 Ref Hom;C>T 132;0|5 N N - 7 77762457 77762457 T C snp intronic MAGI2 Magi2 ENSG00000187391 membrane associated guanylate kinase, WW and PDZ domain containing 2 chr7:77646393-79082890 The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] Aorta; Antidepressive Agents; Blood Pressure Determination; several psychiatric disorders; Dehydroepiandrosterone; Hippocampus; hippocampal atrophy; Celiac Disease|Colitis, Ulcerative; Tobacco Use Disorder; Celiac Disease|Down Syndrome; Body Height; Echocardiography; Body Weight Changes; Type 2 Diabetes| edema | rosiglitazone; inflammatory bowel disease ; Triglycerides; Apolipoproteins C; Arteries; Hip; Magnesium; Celiac Disease|; Cholesterol, LDL; Platelet Aggregation Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. Nephrin family interactions GO:0002092;positive regulation of receptor internalization;IDA|GO:0003402;planar cell polarity pathway involved in axis elongation;NAS|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0010976;positive regulation of neuron projection development;ISS|GO:0016310;phosphorylation;IEA|GO:0030336;negative regulation of cell migration;ISS|GO:0032516;positive regulation of phosphoprotein phosphatase activity;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IEA|GO:0038180;nerve growth factor signaling pathway;ISS|GO:0043113;receptor clustering;ISS|GO:0051291;protein heterooligomerization;ISS|GO:0051898;negative regulation of protein kinase B signaling;IDA|GO:0060395;SMAD protein signal transduction;IEA|GO:0071850;mitotic cell cycle arrest;ISS|GO:0072015;glomerular visceral epithelial cell development;ISS|GO:0097118;neuroligin clustering involved in postsynaptic membrane assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;ISS|GO:2000809;positive regulation of synaptic vesicle clustering;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0036057;slit diaphragm;ISS|GO:0043005;neuron projection;IEA|GO:0043234;protein complex;ISS|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;ISS GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IDA|GO:0031697;beta-1 adrenergic receptor binding;IPI|GO:0032947;protein complex scaffold;IEA|GO:0046332;SMAD binding;IEA|GO:0070699;type II activin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAGI2 https://hpo.jax.org/app/browse/search?q=MAGI2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606382 http://www.informatics.jax.org/searchtool/Search.do?query=MAGI2&submit=Quick%0D%15820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAGI2 rs2072155 0.715256 0 0 1 0 0 intronic intronic intronic MAGI2 MAGI2 ENSG00000187391 Na Na Na Na Na Na Het;T>C 645;40|30 Ref Hom;T>C 1888;0|63 N N - 7 79089737 79089737 G T snp ncRNA_exonic MAGI2-AS3 rs7777453 0.398363 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MAGI2-AS3 MAGI2-AS3 ENSG00000234456 Na Na Na Na Na Na Het;G>T 1575;68|65 Ref Hom;G>T 5188;1|178 N N - 7 79090136 79090136 A G snp ncRNA_exonic MAGI2-AS3 rs2269991 0.530751 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MAGI2-AS3 MAGI2-AS3 ENSG00000234456 Na Na Na Na Na Na Het;A>G 2485;82|101 Ref Hom;A>G 6121;1|206 N N - 7 79092822 79092822 C T snp ncRNA_exonic MAGI2-AS3 rs6964644 0.559505 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic MAGI2-AS3 MAGI2-AS3 ENSG00000234456 Na Na Na Na Na Na Het;C>T 835;36|28 Ref Hom;C>T 971;0|34 N N - 7 80231504 80231504 G C snp UTR5 -44553G>C CD36 Cd36 ENSG00000135218 CD36 molecule chr7:79998891-80308593 The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014] diabetes, type 2 insulin; atherosclerosis; malaria; Angina pectoris|Myocardial Infarction; malaria, plasmodium falciparum; Chronic renal failure|Kidney Failure, Chronic; Malaria infection; variable age at onset disease; Hypertension; body mass; cholesterol; cholesterol, HDL; triglycerides; blood pressure; insulin resistance; Type 2 diabetes; colorectal cancer; osteoarthritis; Macular Degeneration; Malaria, Falciparum; cerebral malaria; hypertension; atherosclerosis, coronary; diabetes, type 2; Kidney Failure, Chronic; left ventricular mass; Platelet Count; Anemia|Malaria, Falciparum; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Obesity; Metabolic Syndrome X; Coronary Artery Disease|Hypertension; Malaria; Type 2 Diabetes| edema | rosiglitazone; obesity; null; diabetes, type 2; liver disease Homozygous mutant mice exhibit an immunodeficiency phenotype, are susceptible to S. aureus infection and develop ocular pterygium. Mice homozygous for disruptions in this gene display abnormal lipid homeostasis which affects energy utilization in the heart. Neutrophil degranulation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002221;pattern recognition receptor signaling pathway;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0002576;platelet degranulation;TAS|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006910;phagocytosis, recognition;IEA|GO:0006955;immune response;IEA|GO:0007155;cell adhesion;TAS|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;ISS|GO:0007263;nitric oxide mediated signal transduction;IDA|GO:0007596;blood coagulation;TAS|GO:0010629;negative regulation of gene expression;IEA|GO:0010744;positive regulation of macrophage derived foam cell differentiation;IMP|GO:0010886;positive regulation of cholesterol storage;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019915;lipid storage;IMP|GO:0019934;cGMP-mediated signaling;IDA|GO:0030194;positive regulation of blood coagulation;IEA|GO:0030299;intestinal cholesterol absorption;ISS|GO:0030301;cholesterol transport;ISS|GO:0031623;receptor internalization;ISS|GO:0032735;positive regulation of interleukin-12 production;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0033993;response to lipid;ISS|GO:0034197;triglyceride transport;ISS|GO:0034381;plasma lipoprotein particle clearance;ISS|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0035634;response to stilbenoid;IEA|GO:0038124;toll-like receptor TLR6:TLR2 signaling pathway;TAS|GO:0042953;lipoprotein transport;IMP|GO:0042992;negative regulation of transcription factor import into nucleus;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043277;apoptotic cell clearance;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0044539;long-chain fatty acid import;IDA|GO:0050702;interleukin-1 beta secretion;ISS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0050892;intestinal absorption;ISS|GO:0050909;sensory perception of taste;ISS|GO:0055096;low-density lipoprotein particle mediated signaling;IEA|GO:0060100;positive regulation of phagocytosis, engulfment;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS|GO:0070508;cholesterol import;ISS|GO:0070542;response to fatty acid;ISS|GO:0070543;response to linoleic acid;ISS|GO:0071221;cellular response to bacterial lipopeptide;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071223;cellular response to lipoteichoic acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;ISS|GO:0071447;cellular response to hydroperoxide;IEA|GO:0071726;cellular response to diacyl bacterial lipopeptide;IDA|GO:1900227;positive regulation of NLRP3 inflammasome complex assembly;ISS|GO:1990000;amyloid fibril formation;ISS|GO:2000121;regulation of removal of superoxide radicals;IEA|GO:2000334;positive regulation of blood microparticle formation;IEA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IEA|GO:2000505;regulation of energy homeostasis;ISS GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031092;platelet alpha granule membrane;TAS|GO:0031526;brush border membrane;ISS|GO:0035579;specific granule membrane;TAS|GO:0045121;membrane raft;IDA|GO:0045177;apical part of cell;IEA|GO:0045335;phagocytic vesicle;TAS GO:0005041;low-density lipoprotein receptor activity;IMP|GO:0005515;protein binding;IPI|GO:0008035;high-density lipoprotein particle binding;IEA|GO:0008289;lipid binding;IDA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0050431;transforming growth factor beta binding;ISS|GO:0070053;thrombospondin receptor activity;ISS|GO:0070892;lipoteichoic acid receptor activity;IEA|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CD36 https://www.uniprot.org/uniprot/P16671 https://hpo.jax.org/app/browse/search?q=CD36&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=173510 http://www.informatics.jax.org/searchtool/Search.do?query=CD36&submit=Quick%0D%7102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD36 rs1194182 0.633387 0 0 1 0 0 UTR5 UTR5 UTR5 CD36(NM_001001547:c.-44553G>C) CD36(uc011kgv.2:c.-54460G>C,uc003uhd.4:c.-44553G>C) ENSG00000135218(ENST00000309881:c.-44553G>C) Na Na Na Na Na Na Het;G>C 404;5|15 Ref Hom;G>C 289;0|11 N N - 7 80811388 80811388 C T snp intronic AC005008.2 rs327689 0.256589 0 0 1 0 0 intergenic intergenic intronic SEMA3C(dist=262721),LOC100128317(dist=394314) SEMA3C(dist=259713),AY927633(dist=394315) ENSG00000237896 Na Na Na Na Na Na Het;C>T 88;2|5 Ref Hom;C>T 109;0|5 N N - 7 813650 813650 G A snp intronic DNAAF5 Dnaaf5 rs62432869 0.636581 0.5956 0.6128 1 0 0 intronic intronic intronic DNAAF5 HEATR2 ENSG00000164818 Na Na Na Na Na Na Het;G>A 1664;69|75 Het;G>A 1993;68|92 Hom;G>A 4785;0|171 N N - 7 814612 814612 G A snp intronic DNAAF5 Dnaaf5 rs34943122 0.665136 0.6230 0.6200 1 0 0 intronic intronic intronic DNAAF5 HEATR2 ENSG00000164818 Na Na Na Na Na Na Het;G>A 940;50|42 Het;G>A 1015;70|49 Hom;G>A 2888;2|113 N N - 7 814788 814788 G A snp nonsynonymous SNV G2228A R743K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) HEATR2 rs3922641 0.66873 0.6269 0.6211 0.08 1 13 exonic exonic exonic DNAAF5 HEATR2 ENSG00000164818 nonsynonymous SNV nonsynonymous SNV unknown DNAAF5:NM_017802:exon11:c.G2228A:p.R743K, HEATR2:uc010krz.1:exon11:c.G2228A:p.R743K,HEATR2:uc003sjc.2:exon4:c.G503A:p.R168K,HEATR2:uc003siz.2:exon11:c.G1832A:p.R611K,HEATR2:uc003sjb.2:exon4:c.G368A:p.R123K, UNKNOWN Het;G>A 877;82|44 Het;G>A 1091;51|49 Hom;G>A 3208;0|114 N N - 7 819477 819477 T C snp intronic DNAAF5 Dnaaf5 rs35728023 0.731829 0 0 1 0 0 intronic intronic intronic DNAAF5 HEATR2 ENSG00000164818 Na Na Na Na Na Na Het;T>C 106;20|6 Het;T>C 75;4|3 Hom;T>C 365;0|12 N N - 7 82122796 82122796 A C snp intergenic CACNA2D1 Cacna2d1 ENSG00000153956 calcium voltage-gated channel auxiliary subunit alpha2delta 1 chr7:81575760-82073114 The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014] Echocardiography; Blood Pressure; Mortality; Hip; Coronary Disease; Nonalcoholic Fatty Liver Disease; C-Reactive Protein; Blood Coagulation Factors; Iron; Celiac Disease|; Tobacco Use Disorder; Carotid Arteries; Body Height; Body Mass Index Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051924;regulation of calcium ion transport;IDA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086048;membrane depolarization during bundle of His cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098703;calcium ion import across plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901843;positive regulation of high voltage-gated calcium channel activity;ISS GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030315;T-tubule;IEA|GO:0070062;extracellular exosome;IDA|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IC|GO:0086057;voltage-gated calcium channel activity involved in bundle of His cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D1 https://www.uniprot.org/uniprot/P54289 https://hpo.jax.org/app/browse/search?q=CACNA2D1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114204 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D1&submit=Quick%0D%9707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D1 rs12707504 0.152556 0 0 1 0 0 intergenic intergenic intergenic CACNA2D1(dist=49674),PCLO(dist=260525) CACNA2D1(dist=49765),PCLO(dist=260525) ENSG00000153956(dist=49682),ENSG00000213530(dist=96368) Na Na Na Na Na Na Het;A>C 206;6|10 Ref Hom;A>C 367;0|13 N N - 7 82219582 82219582 G A snp ncRNA_exonic MTHFD2P5 rs1981577 0.282548 0 0 1 0 0 intergenic intergenic ncRNA_exonic CACNA2D1(dist=146460),PCLO(dist=163739) CACNA2D1(dist=146551),PCLO(dist=163739) ENSG00000213530 Na Na Na Na Na Na Het;G>A 99;4|6 Ref Hom;G>A 105;0|4 N N - 7 82222732 82222732 G A snp intergenic CACNA2D1 Cacna2d1 ENSG00000153956 calcium voltage-gated channel auxiliary subunit alpha2delta 1 chr7:81575760-82073114 The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014] Echocardiography; Blood Pressure; Mortality; Hip; Coronary Disease; Nonalcoholic Fatty Liver Disease; C-Reactive Protein; Blood Coagulation Factors; Iron; Celiac Disease|; Tobacco Use Disorder; Carotid Arteries; Body Height; Body Mass Index Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051924;regulation of calcium ion transport;IDA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086048;membrane depolarization during bundle of His cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098703;calcium ion import across plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901843;positive regulation of high voltage-gated calcium channel activity;ISS GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030315;T-tubule;IEA|GO:0070062;extracellular exosome;IDA|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IC|GO:0086057;voltage-gated calcium channel activity involved in bundle of His cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D1 https://www.uniprot.org/uniprot/P54289 https://hpo.jax.org/app/browse/search?q=CACNA2D1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114204 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D1&submit=Quick%0D%9707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D1 rs10238633 0.333466 0 0 1 0 0 intergenic intergenic intergenic CACNA2D1(dist=149610),PCLO(dist=160589) CACNA2D1(dist=149701),PCLO(dist=160589) ENSG00000213530(dist=2725),ENSG00000228711(dist=63619) Na Na Na Na Na Na Het;G>A 303;8|11 Ref Hom;G>A 907;0|26 N N - 7 82222805 82222805 T C snp intergenic CACNA2D1 Cacna2d1 ENSG00000153956 calcium voltage-gated channel auxiliary subunit alpha2delta 1 chr7:81575760-82073114 The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014] Echocardiography; Blood Pressure; Mortality; Hip; Coronary Disease; Nonalcoholic Fatty Liver Disease; C-Reactive Protein; Blood Coagulation Factors; Iron; Celiac Disease|; Tobacco Use Disorder; Carotid Arteries; Body Height; Body Mass Index Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051924;regulation of calcium ion transport;IDA|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086002;cardiac muscle cell action potential involved in contraction;IMP|GO:0086048;membrane depolarization during bundle of His cell action potential;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0098703;calcium ion import across plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901843;positive regulation of high voltage-gated calcium channel activity;ISS GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030315;T-tubule;IEA|GO:0070062;extracellular exosome;IDA|GO:1990454;L-type voltage-gated calcium channel complex;IDA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0046872;metal ion binding;IEA|GO:0086007;voltage-gated calcium channel activity involved in cardiac muscle cell action potential;IC|GO:0086057;voltage-gated calcium channel activity involved in bundle of His cell action potential;IMP http://www.genecards.org/index.php?path=/Search/keyword/CACNA2D1 https://www.uniprot.org/uniprot/P54289 https://hpo.jax.org/app/browse/search?q=CACNA2D1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114204 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA2D1&submit=Quick%0D%9707ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA2D1 rs10231433 0.301518 0 0 1 0 0 intergenic intergenic intergenic CACNA2D1(dist=149683),PCLO(dist=160516) CACNA2D1(dist=149774),PCLO(dist=160516) ENSG00000213530(dist=2798),ENSG00000228711(dist=63546) Na Na Na Na Na Na Het;T>C 884;25|36 Ref Hom;T>C 3262;0|121 N N - 7 8302284 8302284 G A snp ncRNA_exonic LOC100505938 rs9472 0.565695 0 0 1 0 0 ncRNA_exonic upstream ncRNA_exonic LOC100505938 ICA1 ENSG00000229970,ENSG00000244239 Na Na Na Na Na Na Het;G>A 1330;55|56 Het;G>A 1428;59|63 Hom;G>A 2757;0|102 N N - 7 83373156 83373156 C G snp intergenic SEMA3E Sema3e ENSG00000170381 semaphorin 3E chr7:82993222-83278326 Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] Cholesterol, HDL; Tobacco Use Disorder; Vitamin K; Atrial Fibrillation; Echocardiography Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc. Other semaphorin interactions GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001953;negative regulation of cell-matrix adhesion;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0050808;synapse organization;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2000249;regulation of actin cytoskeleton reorganization;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEMA3E https://hpo.jax.org/app/browse/search?q=SEMA3E&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608166 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA3E&submit=Quick%0D%12691ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA3E rs34718942 0.478634 0 0 1 0 0 intergenic intergenic intergenic SEMA3E(dist=94677),SEMA3A(dist=214503) SEMA3E(dist=94677),SEMA3A(dist=214503) ENSG00000230244(dist=79215),ENSG00000222994(dist=175762) Na Na Na Na Na Na Het;C>G 78;4|3 Ref Hom;C>G 186;0|5 N N - 7 87445748 87445748 G T snp intronic RUNDC3B Rundc3b ENSG00000105784 RUN domain containing 3B chr7:87256864-87461611 Type 2 Diabetes| edema | rosiglitazone; Schizophrenia http://www.genecards.org/index.php?path=/Search/keyword/RUNDC3B https://www.uniprot.org/uniprot/Q96NL0 https://www.ncbi.nlm.nih.gov/omim/?term=617295 http://www.informatics.jax.org/searchtool/Search.do?query=RUNDC3B&submit=Quick%0D%3388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RUNDC3B rs10235853 0.684105 0 0 1 0 0 intronic intronic intronic RUNDC3B RUNDC3B ENSG00000105784 Na Na Na Na Na Na Het;G>T 37;2|2 Ref Hom;G>T 128;0|4 N N - 7 881668 881668 C T snp nonsynonymous SNV C202T H68Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs6461378 0.532947 0.4755 0.4667 0.46 6 13 exonic exonic exonic SUN1 SUN1 ENSG00000164828 nonsynonymous SNV nonsynonymous SNV unknown SUN1:NM_001171945:exon5:c.C415T:p.H139Y,SUN1:NM_001171946:exon4:c.C352T:p.H118Y,SUN1:NM_001171944:exon4:c.C352T:p.H118Y,SUN1:NM_025154:exon3:c.C202T:p.H68Y,SUN1:NM_001130965:exon3:c.C352T:p.H118Y, SUN1:uc003sjf.3:exon3:c.C202T:p.H68Y,SUN1:uc011jvq.2:exon4:c.C352T:p.H118Y,SUN1:uc021zyl.1:exon4:c.C352T:p.H118Y,SUN1:uc021zym.1:exon3:c.C352T:p.H118Y,SUN1:uc010ksa.1:exon5:c.C415T:p.H139Y,SUN1:uc003sje.1:exon4:c.C352T:p.H118Y, UNKNOWN Het;C>T 1634;71|76 Het;C>T 2009;70|93 Hom;C>T 3563;0|133 N N - 7 882895 882895 C G snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs6970511 0.495208 0.4425 0.4564 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;C>G 1359;72|63 Het;C>G 1516;61|68 Hom;C>G 3089;0|111 N N - 7 890978 890978 T C snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs7792674 0.49361 0.4357 0.4720 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;T>C 443;25|21 Het;T>C 509;31|24 Hom;T>C 1886;0|67 N N - 7 891184 891184 C CGAT indel intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs10628483 0.778554 0 0 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;+GAT 206;17|7 Het;+GAT 217;13|7 Hom;+GAT 673;0|16 N N - 7 893297 893297 G C snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs4605959 0.489018 0.4214 0.4678 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;G>C 426;15|16 Het;G>C 317;14|11 Hom;G>C 548;0|18 N N - 7 8991277 8991277 G T snp intergenic NXPH1 Nxph1 ENSG00000122584 neurexophilin 1 chr7:8473585-8792593 This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008] neuroticism; Diabetes Mellitus; Blood Cells; Brain imaging ; Hip; Cholesterol, LDL; Platelet Count; protein quantitative trait loci; Asthma; Triglycerides; ADHD; Neuroblastoma; Tobacco Use Disorder; Blood Pressure; Neurotic Disorders; prostate cancer; Cholesterol, HDL; C-Reactive Protein; Pancreatic Neoplasms; Tunica Media; Sleep Mice homozygous for a targeted mutation show no obvious morbidity, premature mortality, or anatomical defects. However, males exhibit sterility and testis abnormalities probably because homologous recombination results in co-insertion of the 5' part of the HSV-TK cassette into the targeted locus. GO:0005576;extracellular region;IEA GO:0005102;receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NXPH1 https://www.uniprot.org/uniprot/P58417 https://www.ncbi.nlm.nih.gov/omim/?term=604639 http://www.informatics.jax.org/searchtool/Search.do?query=NXPH1&submit=Quick%0D%5428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPH1 rs13247521 0.169928 0 0 1 0 0 intergenic intergenic intergenic NXPH1(dist=198684),PER4(dist=682623) NXPH1(dist=198684),RBSG3(dist=145624) ENSG00000236748(dist=12278),ENSG00000271526(dist=132375) Na Na Na Na Na Na Het;G>T 219;12|12 Het;G>T 255;12|13 Hom;G>T 537;0|20 N N - 7 899710 899710 A C snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs12700166 0.50639 0 0 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;A>C 514;25|18 Het;A>C 268;14|11 Hom;A>C 739;2|22 N N - 7 90338850 90338850 C T snp UTR5 -6C>T CDK14 Cdk14 ENSG00000058091 cyclin dependent kinase 14 chr7:90095738-90839905 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008] Autism; Tobacco Use Disorder; Blood Pressure; Leukocyte Count GO:0000086;G2/M transition of mitotic cell cycle;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IDA GO:0000308;cytoplasmic cyclin-dependent protein kinase holoenzyme complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030332;cyclin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK14 https://www.uniprot.org/uniprot/O94921 https://www.ncbi.nlm.nih.gov/omim/?term=610679 http://www.informatics.jax.org/searchtool/Search.do?query=CDK14&submit=Quick%0D%1030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK14 rs11767691 0.135982 0.1733 0.1475 1 0 0 UTR5 UTR5 UTR5 CDK14(NM_012395:c.-6C>T) CDK14(uc003ukz.1:c.-6C>T) ENSG00000058091(ENST00000265741:c.-6C>T,ENST00000406263:c.-17046C>T) Na Na Na Na Na Na Het;C>T 541;54|30 Het;C>T 698;32|34 Hom;C>T 2426;0|93 N N - 7 90338943 90338943 G GA indel UTR5 -16953G>GA CDK14 Cdk14 ENSG00000058091 cyclin dependent kinase 14 chr7:90095738-90839905 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008] Autism; Tobacco Use Disorder; Blood Pressure; Leukocyte Count GO:0000086;G2/M transition of mitotic cell cycle;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IDA GO:0000308;cytoplasmic cyclin-dependent protein kinase holoenzyme complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030332;cyclin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK14 https://www.uniprot.org/uniprot/O94921 https://www.ncbi.nlm.nih.gov/omim/?term=610679 http://www.informatics.jax.org/searchtool/Search.do?query=CDK14&submit=Quick%0D%1030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK14 rs34926826 0.152157 0.1873 0.1567 1 0 0 intronic intronic UTR5 CDK14 CDK14 ENSG00000058091(ENST00000406263:c.-16953G>GA) Na Na Na Na Na Na Het;+A 249;28|15 Het;+A 449;21|23 Hom;+A 1701;0|65 N N - 7 905786 905786 A G snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs4721952 0.669728 0 0 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;A>G 893;47|37 Het;A>G 640;37|27 Hom;A>G 2071;0|72 N N - 7 90708561 90708561 G A snp intronic CDK14 Cdk14 ENSG00000058091 cyclin dependent kinase 14 chr7:90095738-90839905 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008] Autism; Tobacco Use Disorder; Blood Pressure; Leukocyte Count GO:0000086;G2/M transition of mitotic cell cycle;IDA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0016310;phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IDA GO:0000308;cytoplasmic cyclin-dependent protein kinase holoenzyme complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030332;cyclin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDK14 https://www.uniprot.org/uniprot/O94921 https://www.ncbi.nlm.nih.gov/omim/?term=610679 http://www.informatics.jax.org/searchtool/Search.do?query=CDK14&submit=Quick%0D%1030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK14 rs17163563 0.0361422 0 0 1 0 0 intronic intronic intronic CDK14 CDK14 ENSG00000058091 Na Na Na Na Na Na Het;G>A 169;2|6 Het;G>A 31;3|2 Hom;G>A 87;0|3 N N - 7 90894459 90894459 A ACCG indel nonframeshift substitution 264_264delinsACCG FZD1 Fzd1 ENSG00000157240 frizzled class receptor 1 chr7:90893783-90898123 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008] Bone Mineral Density; Lipoproteins, HDL; Neuroblastoma; Albumins; Cleft Lip|Cleft Palate; null Homozygous mutation of this gene does not appear to result in a phenotype. Disassembly of the destruction complex and recruitment of AXIN to the membrane GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0003149;membranous septum morphogenesis;IEA|GO:0003150;muscular septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;IDA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030182;neuron differentiation;ISS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030855;epithelial cell differentiation;IEA|GO:0035414;negative regulation of catenin import into nucleus;IEA|GO:0035425;autocrine signaling;IDA|GO:0042493;response to drug;IMP|GO:0044338;canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation;IMP|GO:0044339;canonical Wnt signaling pathway involved in osteoblast differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0060022;hard palate development;IEA|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0060412;ventricular septum morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0099054;presynapse assembly;TAS|GO:1903204;negative regulation of oxidative stress-induced neuron death;IEA|GO:1904886;beta-catenin destruction complex disassembly;TAS|GO:1904953;Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation;NAS GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:1990909;Wnt signalosome;IC GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005102;receptor binding;IPI|GO:0005109;frizzled binding;IPI|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;NAS|GO:0030165;PDZ domain binding;IPI|GO:0042813;Wnt-activated receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FZD1 https://www.ncbi.nlm.nih.gov/omim/?term=603408 http://www.informatics.jax.org/searchtool/Search.do?query=FZD1&submit=Quick%0D%10075ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FZD1 rs139480179 0.374201 0.3887 0.4663 1 0 0 exonic exonic exonic FZD1 FZD1 ENSG00000157240 nonframeshift substitution nonframeshift substitution unknown FZD1:NM_003505:exon1:c.264_264delinsACCG, FZD1:uc003ula.3:exon1:c.264_264delinsACCG, UNKNOWN Het;+CCG 1634;51|43 Het;+CCG 1345;52|38 Hom;+CCG 3190;0|71 N N - 7 909350 909350 T C snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs4544987 0.779553 0 0 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;T>C 150;4|5 Het;T>C 87;1|3 Hom;T>C 222;0|6 N N - 7 912755 912755 C T snp intronic SUN1 Sun1 ENSG00000164828 Sad1 and UNC84 domain containing 1 chr7:855528-936072 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Celiac Disease| Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. Meiotic synapsis GO:0001503;ossification;IEA|GO:0006998;nuclear envelope organization;IGI|GO:0007129;synapsis;IEA|GO:0007283;spermatogenesis;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0021817;nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;IEA|GO:0030154;cell differentiation;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051642;centrosome localization;IEA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IDA|GO:0090292;nuclear matrix anchoring at nuclear membrane;IDA GO:0002080;acrosomal membrane;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005637;nuclear inner membrane;IEA|GO:0005639;integral component of nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0034993;LINC complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0005521;lamin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SUN1 https://www.ncbi.nlm.nih.gov/omim/?term=607723 http://www.informatics.jax.org/searchtool/Search.do?query=SUN1&submit=Quick%0D%11400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN1 rs4722034 0.774361 0 0 1 0 0 intronic intronic intronic SUN1 SUN1 ENSG00000164828 Na Na Na Na Na Na Het;C>T 380;20|13 Het;C>T 342;15|15 Hom;C>T 746;0|27 N N - 7 91503228 91503228 C T snp nonsynonymous SNV G820A A274T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MTERF rs10266424 0.39996 0.4050 0.4664 0.08 1 13 exonic exonic exonic MTERF1 MTERF ENSG00000127989 nonsynonymous SNV nonsynonymous SNV unknown MTERF1:NM_001301135:exon4:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301134:exon2:c.G820A:p.A274T, MTERF:uc010leu.1:exon2:c.G820A:p.A274T,MTERF:uc011khm.1:exon4:c.G820A:p.A274T,MTERF:uc003ulc.1:exon3:c.G880A:p.A294T, UNKNOWN Het;C>T 1758;75|81 Het;C>T 1573;79|68 Hom;C>T 4848;0|170 N N - 7 91570129 91570129 C T snp upstream AKAP9 Akap9 ENSG00000127914 A-kinase anchoring protein 9 chr7:91570181-91739987 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] esophageal adenocarcinoma; Tobacco Use Disorder; lung cancer; several psychiatric disorders; colorectal cancer; breast cancer Mice homozygous for a chemically induced allele exhibit male infertily with abnormal spermatogenesis and Sertoli maturation. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000165;MAPK cascade;TAS|GO:0006810;transport;TAS|GO:0007020;microtubule nucleation;IMP|GO:0007165;signal transduction;TAS|GO:0007194;negative regulation of adenylate cyclase activity;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0016310;phosphorylation;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051661;maintenance of centrosome location;IMP|GO:0060306;regulation of membrane repolarization;IMP|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071320;cellular response to cAMP;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0097711;ciliary basal body docking;TAS|GO:0098909;regulation of cardiac muscle cell action potential involved in regulation of contraction;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IMP GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005795;Golgi stack;IDA|GO:0005801;cis-Golgi network;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044307;dendritic branch;IEA|GO:0097060;synaptic membrane;IEA GO:0003677;DNA binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IMP|GO:0016301;kinase activity;IEA|GO:0032947;protein complex scaffold;IDA|GO:0034237;protein kinase A regulatory subunit binding;IPI|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AKAP9 https://www.uniprot.org/uniprot/Q99996 https://hpo.jax.org/app/browse/search?q=AKAP9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604001 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP9&submit=Quick%0D%6077ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP9 rs4727266 0.628594 0 0 1 0 0 upstream upstream upstream AKAP9 AKAP9 ENSG00000127914 Na Na Na Na Na Na Het;C>T 96;10|6 Het;C>T 129;10|6 Hom;C>T 291;0|12 N N - 7 91570290 91570290 G C snp UTR5 -124G>C AKAP9 Akap9 ENSG00000127914 A-kinase anchoring protein 9 chr7:91570181-91739987 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] esophageal adenocarcinoma; Tobacco Use Disorder; lung cancer; several psychiatric disorders; colorectal cancer; breast cancer Mice homozygous for a chemically induced allele exhibit male infertily with abnormal spermatogenesis and Sertoli maturation. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000165;MAPK cascade;TAS|GO:0006810;transport;TAS|GO:0007020;microtubule nucleation;IMP|GO:0007165;signal transduction;TAS|GO:0007194;negative regulation of adenylate cyclase activity;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0016310;phosphorylation;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051661;maintenance of centrosome location;IMP|GO:0060306;regulation of membrane repolarization;IMP|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0061337;cardiac conduction;TAS|GO:0071320;cellular response to cAMP;IMP|GO:0086091;regulation of heart rate by cardiac conduction;IMP|GO:0097711;ciliary basal body docking;TAS|GO:0098909;regulation of cardiac muscle cell action potential involved in regulation of contraction;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IMP GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005795;Golgi stack;IDA|GO:0005801;cis-Golgi network;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044307;dendritic branch;IEA|GO:0097060;synaptic membrane;IEA GO:0003677;DNA binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IMP|GO:0016301;kinase activity;IEA|GO:0032947;protein complex scaffold;IDA|GO:0034237;protein kinase A regulatory subunit binding;IPI|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AKAP9 https://www.uniprot.org/uniprot/Q99996 https://hpo.jax.org/app/browse/search?q=AKAP9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604001 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP9&submit=Quick%0D%6077ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP9 rs4727267 0.628594 0 0 1 0 0 UTR5 UTR5 UTR5 AKAP9(NM_005751:c.-124G>C,NM_147185:c.-124G>C) AKAP9(uc003uld.4:c.-124G>C,uc003ule.2:c.-124G>C,uc003ulf.3:c.-124G>C,uc003ulg.3:c.-124G>C) ENSG00000127914(ENST00000356239:c.-124G>C,ENST00000358100:c.-124G>C,ENST00000359028:c.-124G>C,ENST00000394564:c.-124G>C) Na Na Na Na Na Na Het;G>C 326;29|17 Het;G>C 766;30|31 Hom;G>C 1278;0|44 N N - 7 916678 916678 T C snp intronic GET4 Get4 ENSG00000239857 golgi to ER traffic protein 4 chr7:916189-936073 GO:0006810;transport;IEA|GO:0051220;cytoplasmic sequestering of protein;IMP|GO:0071816;tail-anchored membrane protein insertion into ER membrane;IMP|GO:1904378;maintenance of unfolded protein involved in ERAD pathway;IMP GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0071818;BAT3 complex;IDA GO:0005515;protein binding;IPI|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GET4 https://www.ncbi.nlm.nih.gov/omim/?term=612056 http://www.informatics.jax.org/searchtool/Search.do?query=GET4&submit=Quick%0D%19589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GET4 rs10950881 0.855631 0 0 1 0 0 intronic intronic intronic GET4 GET4 ENSG00000164828,ENSG00000239857 Na Na Na Na Na Na Het;T>C 53;2|4 Het;T>C 56;1|4 Hom;T>C 242;0|9 N N - 7 916839 916841 GCT G indel intronic GET4 Get4 ENSG00000239857 golgi to ER traffic protein 4 chr7:916189-936073 GO:0006810;transport;IEA|GO:0051220;cytoplasmic sequestering of protein;IMP|GO:0071816;tail-anchored membrane protein insertion into ER membrane;IMP|GO:1904378;maintenance of unfolded protein involved in ERAD pathway;IMP GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0071818;BAT3 complex;IDA GO:0005515;protein binding;IPI|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GET4 https://www.ncbi.nlm.nih.gov/omim/?term=612056 http://www.informatics.jax.org/searchtool/Search.do?query=GET4&submit=Quick%0D%19589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GET4 rs145879127 0.852436 0 0 1 0 0 intronic intronic intronic GET4 GET4 ENSG00000164828,ENSG00000239857 Na Na Na Na Na Na Het;-CT 42;7|3 Het;-CT 57;2|3 Hom;-CT 215;0|7 N N - 7 92027187 92027187 A G snp intronic ANKIB1 Ankib1 ENSG00000001629 ankyrin repeat and IBR domain containing 1 chr7:91875548-92030698 Tobacco Use Disorder GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005737;cytoplasm;IBA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/ANKIB1 https://www.uniprot.org/uniprot/Q9P2G1 http://www.informatics.jax.org/searchtool/Search.do?query=ANKIB1&submit=Quick%0D%284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKIB1 rs38793 0.727236 0.6665 0.6767 1 0 0 intronic intronic intronic ANKIB1 ANKIB1 ENSG00000001629 Na Na Na Na Na Na Het;A>G 3207;102|132 Het;A>G 1441;93|66 Hom;A>G 4746;0|166 N N - 7 92028039 92028039 C A snp nonsynonymous SNV C853A L285M aliphatic,hydrophobic,neutral hydrophobic,neutral ANKIB1 Ankib1 ENSG00000001629 ankyrin repeat and IBR domain containing 1 chr7:91875548-92030698 Tobacco Use Disorder GO:0000209;protein polyubiquitination;IBA|GO:0016567;protein ubiquitination;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA GO:0000151;ubiquitin ligase complex;IBA|GO:0005737;cytoplasm;IBA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/ANKIB1 https://www.uniprot.org/uniprot/Q9P2G1 http://www.informatics.jax.org/searchtool/Search.do?query=ANKIB1&submit=Quick%0D%284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKIB1 rs38794 0.439097 0.4461 0.5147 0.23 3 13 exonic exonic exonic ANKIB1 ANKIB1 ENSG00000001629 nonsynonymous SNV nonsynonymous SNV unknown ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M, ANKIB1:uc010lew.1:exon9:c.C853A:p.L285M,ANKIB1:uc003ulw.2:exon20:c.C3046A:p.L1016M, UNKNOWN Het;C>A 2072;88|92 Het;C>A 1693;89|76 Hom;C>A 4486;0|159 N N - 7 93107093 93107093 A C snp intronic CALCR Calcr ENSG00000004948 calcitonin receptor chr7:93053799-93204042 This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] bone loss; body mass; bone density; bladder cancer; Body Weight; null; calcium oxalate stones; bone density; fractures; osteoporosis; arthritis, juvenile; Hypertrophy, Left Ventricular; Alzheimer's disease ; lung cancer ; chronic obstructive pulmonary disease; Bone Mineral Density; breast cancer; decreased fracture risk; bone density; bone density; osteopenia; Femoral Neck Fractures|Fractures, Stress; Osteoporosis, Postmenopausal; kidney stone disease; Osteoporosis; early marginal bone loss around endosseous implants.; Type 2 Diabetes| edema | rosiglitazone; bone mineral density; lung cancer; Myocardial Infarction; periodontitis; osteoporosis, postmenopausal; bone density; Hyperparathyroidism, Secondary; hormone disturbance; Cholesterol, HDL Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. Calcitonin-like ligand receptors GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0015031;protein transport;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0043488;regulation of mRNA stability;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IDA|GO:0051384;response to glucocorticoid;IDA|GO:0072659;protein localization to plasma membrane;IDA GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004948;calcitonin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IDA|GO:0032841;calcitonin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CALCR https://www.uniprot.org/uniprot/P30988 https://www.ncbi.nlm.nih.gov/omim/?term=114131 http://www.informatics.jax.org/searchtool/Search.do?query=CALCR&submit=Quick%0D%336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCR rs2074120 0.63139 0 0 1 0 0 intronic intronic intronic CALCR CALCR ENSG00000004948 Na Na Na Na Na Na Het;A>C 186;5|6 Het;A>C 81;15|4 Hom;A>C 426;0|11 N N - 7 93116138 93116138 G A snp intronic CALCR Calcr ENSG00000004948 calcitonin receptor chr7:93053799-93204042 This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] bone loss; body mass; bone density; bladder cancer; Body Weight; null; calcium oxalate stones; bone density; fractures; osteoporosis; arthritis, juvenile; Hypertrophy, Left Ventricular; Alzheimer's disease ; lung cancer ; chronic obstructive pulmonary disease; Bone Mineral Density; breast cancer; decreased fracture risk; bone density; bone density; osteopenia; Femoral Neck Fractures|Fractures, Stress; Osteoporosis, Postmenopausal; kidney stone disease; Osteoporosis; early marginal bone loss around endosseous implants.; Type 2 Diabetes| edema | rosiglitazone; bone mineral density; lung cancer; Myocardial Infarction; periodontitis; osteoporosis, postmenopausal; bone density; Hyperparathyroidism, Secondary; hormone disturbance; Cholesterol, HDL Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. Calcitonin-like ligand receptors GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0015031;protein transport;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0043488;regulation of mRNA stability;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IDA|GO:0051384;response to glucocorticoid;IDA|GO:0072659;protein localization to plasma membrane;IDA GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004948;calcitonin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IDA|GO:0032841;calcitonin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CALCR https://www.uniprot.org/uniprot/P30988 https://www.ncbi.nlm.nih.gov/omim/?term=114131 http://www.informatics.jax.org/searchtool/Search.do?query=CALCR&submit=Quick%0D%336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCR rs9691220 0.575679 0 0 1 0 0 intronic intronic intronic CALCR CALCR ENSG00000004948 Na Na Na Na Na Na Het;G>A 104;2|4 Het;G>A 209;5|7 Hom;G>A 319;0|9 N N - 7 93116299 93116299 A G snp nonsynonymous SNV T49C S17P polar,hydrophilic,neutral hydrophobic,neutral CALCR Calcr ENSG00000004948 calcitonin receptor chr7:93053799-93204042 This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] bone loss; body mass; bone density; bladder cancer; Body Weight; null; calcium oxalate stones; bone density; fractures; osteoporosis; arthritis, juvenile; Hypertrophy, Left Ventricular; Alzheimer's disease ; lung cancer ; chronic obstructive pulmonary disease; Bone Mineral Density; breast cancer; decreased fracture risk; bone density; bone density; osteopenia; Femoral Neck Fractures|Fractures, Stress; Osteoporosis, Postmenopausal; kidney stone disease; Osteoporosis; early marginal bone loss around endosseous implants.; Type 2 Diabetes| edema | rosiglitazone; bone mineral density; lung cancer; Myocardial Infarction; periodontitis; osteoporosis, postmenopausal; bone density; Hyperparathyroidism, Secondary; hormone disturbance; Cholesterol, HDL Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. Calcitonin-like ligand receptors GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0015031;protein transport;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030316;osteoclast differentiation;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0043488;regulation of mRNA stability;IEA|GO:0045762;positive regulation of adenylate cyclase activity;IDA|GO:0051384;response to glucocorticoid;IDA|GO:0072659;protein localization to plasma membrane;IDA GO:0001669;acrosomal vesicle;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004948;calcitonin receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IDA|GO:0032841;calcitonin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CALCR https://www.uniprot.org/uniprot/P30988 https://www.ncbi.nlm.nih.gov/omim/?term=114131 http://www.informatics.jax.org/searchtool/Search.do?query=CALCR&submit=Quick%0D%336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCR rs2301680 0.575679 0.5398 0.5177 0.08 1 12 exonic exonic exonic CALCR CALCR ENSG00000004948 nonsynonymous SNV nonsynonymous SNV unknown CALCR:NM_001164737:exon4:c.T49C:p.S17P, CALCR:uc003umv.2:exon4:c.T49C:p.S17P, UNKNOWN Het;A>G 179;11|8 Het;A>G 705;40|34 Hom;A>G 2378;0|92 N N - 7 932268 932292 GTGGGTGTATGTGCAAGTGTAGACA G indel intronic GET4 Get4 ENSG00000239857 golgi to ER traffic protein 4 chr7:916189-936073 GO:0006810;transport;IEA|GO:0051220;cytoplasmic sequestering of protein;IMP|GO:0071816;tail-anchored membrane protein insertion into ER membrane;IMP|GO:1904378;maintenance of unfolded protein involved in ERAD pathway;IMP GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0071818;BAT3 complex;IDA GO:0005515;protein binding;IPI|GO:0051087;chaperone binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GET4 https://www.ncbi.nlm.nih.gov/omim/?term=612056 http://www.informatics.jax.org/searchtool/Search.do?query=GET4&submit=Quick%0D%19589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GET4 rs66553046 0.421526 0 0 1 0 0 intronic intronic intronic GET4 GET4 ENSG00000164828,ENSG00000239857 Na Na Na Na Na Na Het;-TGGGTGTATGTGCAAGTGTAGACA 224;8|7 Het;-TGGGTGTATGTGCAAGTGTAGACA 74;4|3 Hom;-TGGGTGTATGTGCAAGTGTAGACA 324;0|8 N N - 7 93396232 93396232 C T snp intronic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs2519581 0.799521 0 0 1 0 0 intergenic intergenic intronic MIR4652(dist=49915),TFPI2(dist=118477) NONE(dist=NONE),NONE(dist=NONE) ENSG00000127928 Na Na Na Na Na Na Het;C>T 154;8|8 Het;C>T 93;13|5 Hom;C>T 283;0|10 N N - 7 93396282 93396282 A G snp intronic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs2519580 0.804113 0 0 1 0 0 intergenic intergenic intronic MIR4652(dist=49965),TFPI2(dist=118427) NONE(dist=NONE),NONE(dist=NONE) ENSG00000127928 Na Na Na Na Na Na Het;A>G 356;17|20 Het;A>G 372;27|19 Hom;A>G 1266;0|46 N N - 7 93396331 93396331 G C snp intronic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs2677067 0.80012 0 0 1 0 0 intergenic intergenic intronic MIR4652(dist=50014),TFPI2(dist=118378) NONE(dist=NONE),NONE(dist=NONE) ENSG00000127928 Na Na Na Na Na Na Het;G>C 424;18|20 Het;G>C 486;28|25 Hom;G>C 1439;0|56 N N - 7 93475155 93475155 G C snp intronic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs2724081 0.567292 0 0 1 0 0 intergenic intergenic intronic MIR4652(dist=128838),TFPI2(dist=39554) NONE(dist=NONE),NONE(dist=NONE) ENSG00000127928 Na Na Na Na Na Na Het;G>C 237;6|9 Het;G>C 244;6|10 Hom;G>C 725;0|23 N N - 7 93475784 93475785 AT A indel intronic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs34985755 0.567891 0 0 1 0 0 intergenic intergenic intronic MIR4652(dist=129467),TFPI2(dist=38924) NONE(dist=NONE),NONE(dist=NONE) ENSG00000127928 Na Na Na Na Na Na Het;-T 400;8|21 Het;-T 136;9|9 Hom;-T 890;0|36 N N - 7 93515993 93515993 T G snp UTR3 *139A>C TFPI2 Tfpi2 ENSG00000105825 tissue factor pathway inhibitor 2 chr7:93514709-93520303 This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] lung cancer; brain hemorrhage GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0071498;cellular response to fluid shear stress;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0031012;extracellular matrix;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005201;extracellular matrix structural constituent;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TFPI2 https://www.uniprot.org/uniprot/P48307 https://www.ncbi.nlm.nih.gov/omim/?term=600033 http://www.informatics.jax.org/searchtool/Search.do?query=TFPI2&submit=Quick%0D%3395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TFPI2 rs4517 0.346645 0 0 1 0 0 UTR3 UTR3 UTR3 TFPI2(NM_001271004:c.*210A>C,NM_001271003:c.*139A>C,NM_006528:c.*139A>C) TFPI2(uc003umz.2:c.*210A>C,uc003una.2:c.*139A>C,uc003umy.2:c.*139A>C) ENSG00000105825(ENST00000222543:c.*139A>C,ENST00000545378:c.*139A>C,ENST00000451238:c.*210A>C) Na Na Na Na Na Na Het;T>G 72;4|3 Het;T>G 129;2|4 Hom;T>G 542;0|14 N N - 7 93544357 93544357 G A snp intergenic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs180259 0.608027 0 0 1 0 0 intergenic intergenic intergenic GNGT1(dist=3872),GNG11(dist=6659) GNGT1(dist=3872),GNG11(dist=6659) ENSG00000127928(dist=3780),ENSG00000127920(dist=6654) Na Na Na Na Na Na Het;G>A 414;19|19 Het;G>A 269;26|16 Hom;G>A 1286;0|46 N N - 7 93544393 93544393 A G snp intergenic GNGT1 Gngt1 ENSG00000127928 G protein subunit gamma transducin 1 chr7:93220885-93540577 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016] retinitis pigmentosa; Asthma Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits GO:0007165;signal transduction;NAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007602;phototransduction;IEA|GO:0008104;protein localization;IEA|GO:0010659;cardiac muscle cell apoptotic process;IEA|GO:0016056;rhodopsin mediated signaling pathway;TAS|GO:0022400;regulation of rhodopsin mediated signaling pathway;TAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNGT1 https://www.uniprot.org/uniprot/P63211 https://www.ncbi.nlm.nih.gov/omim/?term=189970 http://www.informatics.jax.org/searchtool/Search.do?query=GNGT1&submit=Quick%0D%6080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNGT1 rs180258 0.607827 0 0 1 0 0 intergenic intergenic intergenic GNGT1(dist=3908),GNG11(dist=6623) GNGT1(dist=3908),GNG11(dist=6623) ENSG00000127928(dist=3816),ENSG00000127920(dist=6618) Na Na Na Na Na Na Het;A>G 496;16|24 Het;A>G 334;20|18 Hom;A>G 1285;0|47 N N - 7 93551428 93551428 C T snp UTR5 -22C>T GNG11 Gng11 ENSG00000127920 G protein subunit gamma 11 chr7:93551011-93557922 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008] Waist-Hip Ratio Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNG11 https://www.uniprot.org/uniprot/P61952 https://www.ncbi.nlm.nih.gov/omim/?term=604390 http://www.informatics.jax.org/searchtool/Search.do?query=GNG11&submit=Quick%0D%6078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNG11 rs4262 0.546725 0.5051 0.6103 1 0 0 UTR5 UTR5 UTR5 GNG11(NM_004126:c.-22C>T) GNG11(uc003und.3:c.-22C>T) ENSG00000127920(ENST00000248564:c.-22C>T) Na Na Na Na Na Na Het;C>T 316;9|14 Het;C>T 80;6|5 Hom;C>T 340;0|13 N N - 7 93555311 93555311 A C snp intronic GNG11 Gng11 ENSG00000127920 G protein subunit gamma 11 chr7:93551011-93557922 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008] Waist-Hip Ratio Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0071377;cellular response to glucagon stimulus;TAS GO:0005834;heterotrimeric G-protein complex;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GNG11 https://www.uniprot.org/uniprot/P61952 https://www.ncbi.nlm.nih.gov/omim/?term=604390 http://www.informatics.jax.org/searchtool/Search.do?query=GNG11&submit=Quick%0D%6078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNG11 rs180233 0.763379 0 0 1 0 0 intronic intronic intronic GNG11 GNG11 ENSG00000127920 Na Na Na Na Na Na Het;A>C 213;8|8 Het;A>C 85;2|3 Hom;A>C 396;0|11 N N - 7 93623458 93623458 A G snp UTR3 *84T>C BET1 Bet1 ENSG00000105829 Bet1 golgi vesicular membrane trafficking protein chr7:93592074-93633694 This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Glucose; Receptors, Tumor Necrosis Factor, Type II; Body Height; Cholesterol, LDL; Intelligence; Iron COPI-mediated anterograde transport GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0048280;vesicle fusion with Golgi apparatus;IEA GO:0000139;Golgi membrane;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005801;cis-Golgi network;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030133;transport vesicle;TAS|GO:0031201;SNARE complex;IEA|GO:0031985;Golgi cisterna;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BET1 https://www.uniprot.org/uniprot/O15155 https://www.ncbi.nlm.nih.gov/omim/?term=605456 http://www.informatics.jax.org/searchtool/Search.do?query=BET1&submit=Quick%0D%3396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BET1 rs2286845 0.294928 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic BET1(NM_005868:c.*84T>C) BET1(uc003unf.1:c.*84T>C) ENSG00000236861 Na Na Na Na Na Na Het;A>G 211;13|7 Het;A>G 216;11|7 Hom;A>G 483;0|14 N N - 7 94941038 94941038 G T snp intronic PON1 Pon1 ENSG00000005421 paraoxonase 1 chr7:94926988-95025673 The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008] stroke; Alzheimer's Disease; cardiovascular; Cardiovascular Diseases|Obesity|Virilism; angina; cholesterol, HDL; C-reactive protein; carotid intima-media thickness; multiple myeloma; cholesterol, HDL; apoAI; Albuminuria|Cardiovascular Diseases|Diabetes Mellitus|Hypertension|Kidney Diseases|Renal Insufficiency; diabetes, type 2; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Brain Ischemia; Brain Ischemia|Intracranial Arteriosclerosis|Stroke; response to TNF antagonist treatment; brain cancer; Coronary Disease|Coronary heart disease|Myocardial Infarction; Autism; dementia; breast cancer; pesticide toxicity; normal variation; hypercholesterolemia; retinopathy, diabetic; nephropathy in other diseases; birth weight gestational age oxidative stress; Coronary Disease|Myocardial Infarction; lipids; myocardial infarction; lipid concentrations; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; DNA Damage|Neoplasms, Glandular and Epithelial|Ovarian Neoplasms; Environmental Illness|; intima media thickness; uremia; Arthritis, Rheumatoid; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; nephropathy, diabetic; coronary artery disease; null; non-Hodgkin's lymphoma; cholesterol, HDL; paraoxonase activity; preterm delivery; glomerulonephritis; diabetes, type 2; nephropathy in other diseases; coronary artery disease; lipoproteins; fluvastatin, clinical events with; treatment with fluvastatin, response to; C-reactive protein cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; myocardial infarct stroke, ischemic; lipid metabolism; Parkinson's disease ; Carotid Artery Diseases|Inflammation|Lupus Erythematosus, Systemic|Lupus Nephritis; cerebral infarct; body mass paraoxonase activity polycystic ovary syndrome; Insulin Resistance|Polycystic Ovary Syndrome; Acute Coronary Syndrome|Myocardial Infarction|Recurrence; hypertension; Multiple Chemical Sensitivity; Type 2 Diabetes| edema | rosiglitazone; cholesterol, HDL; Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular; kidney transplant complications; lipids; longevity; vascular disease; Alzheimer's disease; Astrocytoma|Brain Neoplasms|Meningeal Neoplasms|meningioma; atherosclerosis; pancreatitis; pancreatitis, alcoholic; pancreatitis, chronic; lipid peroxidation; paraoxonase1 activity; macular degeneration; childhood brain tumors | residential insecticide exposure; Obesity|Vascular Diseases; heart disease, ischemic; glucose response; retinopathy, diabetic; cerebral amyloid angiopathy; coronary heart disease; depression; abdominal aortic aneurysm homocysteine hypertension; coronary artery disease risk; Apoplexy|Constriction, Pathologic|Stroke; Hypoxia-Ischemia, Brain|Stroke; Arthritis, Rheumatoid|Rheumatoid Arthritis; bladder cancer; coronary artery disease.; PON1 expression; diabetes, type 1 ; breast cancer ; Apoplexy|Stroke; esophageal adenocarcinoma; diabetes, type 2; cerebrovascular disease; Coronary Artery Disease|Coronary Stenosis; Multiple Myeloma; Chronic renal failure|Kidney Failure, Chronic; Breath Tests; stroke, ischemic; Myocardial Infarction; fasting total cholesterol and LDL-cholesterol concentrations only; glaucoma, primary open-angle; atherosclerosis, coronary; lipids; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; lymphoma, Non-Hodgkin's; Coronary Disease|Coronary heart disease; childhood brain tumor; left ventricular hypertrophy; cholesterol, HDL; triglycerides; Apoplexy|Brain Ischemia|Coronary Disease|Coronary heart disease|Stroke; Alzheimer's Disease/Coronary artery disease; acetylcholinesterase; paraoxonase; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; myocardial infarction; bone density; lung cancer; carotid artery damage; Atherosclerosis|Carotid Artery Diseases|Diabetes Mellitus, Type 2|; Aortic Aneurysm, Abdominal|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diazonase activity; Stroke; hepatitis C, chronic; Brain Ischemia|Cerebral Hemorrhage|Stroke; atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic; glucose; paraoxonase-1; plasma HDL-C levels; cardiovascular risk; Amyotrophic Lateral Sclerosis|; coronary artery disease; diabetes, type 2; chronic symptoms in pesticide-exposed workers; cerebral amyloid angiopathy.; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Coronary Disease; Myocardial Ischemia; BMI- Edema rosiglitazone or pioglitazone; Body Height; carotid atherosclerosis; DNA damage; Kidney Diseases; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; coronary artery reactivity; lipoprotein oxidation; Cell Adhesion Molecules; HTL hydrolase; bone mineral density (BMD); Infection|Inflammation|Premature Birth; human fertility; lupus erythematosus paraoxonase 1 activity; Coronary Artery Disease|; ill health, sheep dip related; colorectal cancer; Cardiovascular disease; Spinal Dysraphism; multiple sclerosis; cerebrovascular disease; Cardiovascular Diseases; coronary artery spasm; Crohn's disease ulcerative colitis; prostate cancer; carotid intima-media thickness; schizophrenia; Neoplasms; Cleft Lip|Cleft Palate; blood pressure, arterial; Fetal Growth Retardation|Intrauterine growth retardation; Tobacco Use Disorder; Alzheimer's disease; atherosclerosis, coronary; glomerulosclerosis, focal; atherosclerosis, generalized; Alzheimer's disease ; hyperglycemia hypertension, pregnancy induced preterm delivery; Inflammation|Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; organophosphate toxicity; lipid metabolism disorders; cardiovascular disease; coronary endothelial vasomotor dysfunction; preeclampsia; oxidative stress ; Liver Diseases; Coronary Artery Disease|Myocardial Infarction; Coronary Artery Disease; Coronary Artery Disease|Diabetes Mellitus|Hyperlipidemias|Hypertension|Myocardial Infarction; Hypercholesterolemia|LDLC levels; Type 2 diabetes; atherosclerosis, coronary cholesterol, HDL triglycerides; nephropathy in other diseases; paraoxonase; Cholesterol, HDL/blood*; Atherosclerosis|Cardiovascular Diseases|; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; diabetes, type 2; insulin; Arsenic Poisoning|Cardiovascular Diseases; Coronary Disease|Coronary heart disease|Hyperlipidemias; Hypertension; Brain Ischemia|Stroke; insulin resistance; nephropathy, IgA; atherosclerosis, coronary; hypercholesterolemia; Agricultural Workers' Diseases|DNA Damage|Substance-Related Disorders; Carotid Artery Diseases|; Atherosclerosis|Carotid Artery Diseases; Hyperhomocysteinemia; Apoplexy|Brain Ischemia|Stroke; Premature Birth; coronary atherosclerosis; DNA Damage; Pre-Eclampsia; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Inflammation|Premature Birth; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Angiopathies; Alzheimer's disease; vascular dementia; Brain Ischemia|Hypertension|Osteoporosis|Stroke; cholesterol, HDL; lipoproteins; Adrenal Hyperplasia, Congenital|Hyperandrogenism; plasma lipoproteins; restenosis; Coronary Disease|Coronary heart disease|Metabolic Syndrome X; obesity; P-Selectin; retinopathy, diabetic; albumin excretion rate; myocardial infarct; ALS/amyotrophic lateral sclerosis; metabolic syndrome; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; HDL-cholesterol level; multiple chemical sensitivity; paraoxonase activity; Acute Coronary Syndrome|Inflammation; increased serum glucose concentrations; arylesterase activity cholesterol cholesterol, HDL cholesterol, LDL; anxiety disorder; lipoprotein; oxidative stress; cholesterol, HDL; lipoprotein, LDL; cholesterol, LDL; cholesterol, total; Kidney Failure, Chronic; Coronary Artery Disease|Disease Susceptibility; paraoxonase-1 specific activity; diabetes, type 2; lipoprotein; Abortion, Spontaneous|Thrombosis; Parkinson's disease; lipoprotein; lipids; Cardiovascular Diseases|; diabetes, type 1; PON1 activity; more degree of homeostasis model assessment IR; Diabetes Mellitus, Type 2|Mouth Diseases; Glomerulonephritis, IGA; paraoxinase 1 activity; beta-cell function; intima-media thickness; cardiac death; lipoproteins; Amyotrophic Lateral Sclerosis; Macular Degeneration|Vision, Low; pharmacogenetic studies; Coronary Heart Disease; osteonecrosis; ovarian cancer ; Obesity; Agricultural Workers' Diseases; cholesterol, HDL; triglycerides; lipids; hearing loss/deafness; Recurrence|Venous Thromboembolism Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress. Synthesis of 5-eicosatetraenoic acids GO:0006629;lipid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009605;response to external stimulus;NAS|GO:0009636;response to toxic substance;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0016311;dephosphorylation;IEA|GO:0019372;lipoxygenase pathway;TAS|GO:0019439;aromatic compound catabolic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032411;positive regulation of transporter activity;IDA|GO:0046395;carboxylic acid catabolic process;IDA|GO:0046434;organophosphate catabolic process;IDA|GO:0046470;phosphatidylcholine metabolic process;IDA|GO:0051099;positive regulation of binding;IDA|GO:0070542;response to fatty acid;IEA|GO:1902617;response to fluoride;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0034366;spherical high-density lipoprotein particle;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004063;aryldialkylphosphatase activity;IDA|GO:0004064;arylesterase activity;IEA|GO:0005509;calcium ion binding;IDA|GO:0005543;phospholipid binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0102007;acyl-L-homoserine-lactone lactonohydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PON1 https://www.uniprot.org/uniprot/P27169 https://hpo.jax.org/app/browse/search?q=PON1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168820 http://www.informatics.jax.org/searchtool/Search.do?query=PON1&submit=Quick%0D%362ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PON1 rs1157745 0.542532 0 0 1 0 0 intronic intronic intronic PON1 PON1 ENSG00000005421 Na Na Na Na Na Na Het;G>T 92;5|4 Het;G>T 60;7|3 Hom;G>T 110;1|4 N N - 7 95727014 95727014 T C snp UTR3 *109T>C DYNC1I1 Dync1i1 ENSG00000158560 dynein cytoplasmic 1 intermediate chain 1 chr7:95401866-95739634 Alcoholism; Forced Vital Capacity; Erythrocyte Count; Tunica Media Mitotic Prometaphase GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007018;microtubule-based movement;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0047496;vesicle transport along microtubule;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;TAS|GO:0005874;microtubule;IEA|GO:0030286;dynein complex;IEA|GO:0031982;vesicle;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0055037;recycling endosome;IDA GO:0003774;motor activity;TAS|GO:0003777;microtubule motor activity;ISS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;ISS|GO:0030507;spectrin binding;IDA|GO:0045503;dynein light chain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYNC1I1 https://www.ncbi.nlm.nih.gov/omim/?term=603772 http://www.informatics.jax.org/searchtool/Search.do?query=DYNC1I1&submit=Quick%0D%10227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC1I1 rs7794344 0.899561 0 0 1 0 0 UTR3 UTR3 UTR3 DYNC1I1(NM_004411:c.*109T>C,NM_001135557:c.*109T>C,NM_001135556:c.*109T>C,NM_001278421:c.*109T>C) DYNC1I1(uc003uoc.4:c.*109T>C,uc003uod.4:c.*109T>C,uc003uob.3:c.*109T>C,uc003uoe.4:c.*109T>C,uc010lfl.3:c.*109T>C) ENSG00000158560(ENST00000447467:c.*109T>C,ENST00000324972:c.*109T>C,ENST00000437599:c.*109T>C,ENST00000359388:c.*109T>C,ENST00000457059:c.*109T>C) Na Na Na Na Na Na Het;T>C 577;20|22 Het;T>C 306;10|11 Hom;T>C 956;0|27 N N - 7 96992743 96992743 G A snp intergenic SDHAF3 Sdhaf3 rs7790155 0.447085 0 0 1 0 0 intergenic intergenic intergenic SDHAF3(dist=181668),TAC1(dist=368528) ACN9(dist=181668),7SK(dist=235502) ENSG00000221192(dist=71835),ENSG00000226046(dist=74087) Na Na Na Na Na Na Het;G>A 405;5|12 Het;G>A 335;5|7 Hom;G>A 962;0|22 N N - 7 96992771 96992771 G GTCTA indel intergenic SDHAF3 Sdhaf3 rs201516545 0.251398 0 0 1 0 0 intergenic intergenic intergenic SDHAF3(dist=181696),TAC1(dist=368500) ACN9(dist=181696),7SK(dist=235474) ENSG00000221192(dist=71863),ENSG00000226046(dist=74059) Na Na Na Na Na Na Het;+TCTA 471;6|15 Het;+TCTA 433;4|14 Hom;+TCTA 1302;0|33 N N - 7 96992779 96992779 G GTCTATCTATCTA indel intergenic SDHAF3 Sdhaf3 Na 0 0 0 1 0 0 intergenic intergenic intergenic SDHAF3(dist=181704),TAC1(dist=368492) ACN9(dist=181704),7SK(dist=235466) ENSG00000221192(dist=71871),ENSG00000226046(dist=74051) Na Na Na Na Na Na Het;+TCTATCTATCTA 534;5|13 Het;+TCTATCTATCTA 483;2|12 Hom;+TCTATCTATCTA 1314;0|31 N N - 7 97010437 97010437 G C snp intergenic SDHAF3 Sdhaf3 rs2024435 0.365615 0 0 1 0 0 intergenic intergenic intergenic SDHAF3(dist=199362),TAC1(dist=350834) ACN9(dist=199362),7SK(dist=217808) ENSG00000221192(dist=89529),ENSG00000226046(dist=56393) Na Na Na Na Na Na Het;G>C 152;8|8 Het;G>C 65;11|5 Hom;G>C 929;0|30 N N - 7 97361784 97361784 C T snp intronic TAC1 Tac1 ENSG00000006128 tachykinin precursor 1 chr7:97361220-97369784 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] multiple sclerosis; Schizophrenia; several psychiatric disorders; Type 2 Diabetes| edema | rosiglitazone; Autism; Asthma; slow transit constipation; Bulimia; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; alcohol consumption; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; respiratory syncytial virus bronchiolitis; Heart Failure Mice homozygous for a knock-out allele exhibit absence of agonist-induced hyperalgesia and an impaired response to chemical irritation of the urinary tract. Mice homozygous for a different knock-out allele display hypoalgesia, and reduced anxiety- and depression-related behaviors. G alpha (q) signalling events GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0006954;inflammatory response;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007217;tachykinin receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007320;insemination;TAS|GO:0007616;long-term memory;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0008306;associative learning;IEA|GO:0009582;detection of abiotic stimulus;TAS|GO:0009725;response to hormone;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0019233;sensory perception of pain;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0043278;response to morphine;IEA|GO:0045760;positive regulation of action potential;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0046878;positive regulation of saliva secretion;IEA|GO:0048265;response to pain;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IEA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000854;positive regulation of corticosterone secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005886;plasma membrane;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA GO:0031835;substance P receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAC1 https://www.uniprot.org/uniprot/P20366 https://www.ncbi.nlm.nih.gov/omim/?term=162320 http://www.informatics.jax.org/searchtool/Search.do?query=TAC1&submit=Quick%0D%391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAC1 rs2072100 0.509585 0 0 1 0 0 intronic intronic intronic TAC1 TAC1 ENSG00000006128 Na Na Na Na Na Na Het;C>T 235;10|9 Het;C>T 32;4|2 Hom;C>T 327;0|9 N N - 7 97365522 97365522 T G snp intronic TAC1 Tac1 ENSG00000006128 tachykinin precursor 1 chr7:97361220-97369784 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] multiple sclerosis; Schizophrenia; several psychiatric disorders; Type 2 Diabetes| edema | rosiglitazone; Autism; Asthma; slow transit constipation; Bulimia; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; alcohol consumption; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; respiratory syncytial virus bronchiolitis; Heart Failure Mice homozygous for a knock-out allele exhibit absence of agonist-induced hyperalgesia and an impaired response to chemical irritation of the urinary tract. Mice homozygous for a different knock-out allele display hypoalgesia, and reduced anxiety- and depression-related behaviors. G alpha (q) signalling events GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0006954;inflammatory response;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007217;tachykinin receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007320;insemination;TAS|GO:0007616;long-term memory;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0008306;associative learning;IEA|GO:0009582;detection of abiotic stimulus;TAS|GO:0009725;response to hormone;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0019233;sensory perception of pain;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0043278;response to morphine;IEA|GO:0045760;positive regulation of action potential;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0046878;positive regulation of saliva secretion;IEA|GO:0048265;response to pain;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IEA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000854;positive regulation of corticosterone secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005886;plasma membrane;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA GO:0031835;substance P receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAC1 https://www.uniprot.org/uniprot/P20366 https://www.ncbi.nlm.nih.gov/omim/?term=162320 http://www.informatics.jax.org/searchtool/Search.do?query=TAC1&submit=Quick%0D%391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAC1 rs78453589 0.191494 0 0 1 0 0 intronic intronic intronic TAC1 TAC1 ENSG00000006128 Na Na Na Na Na Na Het;T>G 616;9|21 Het;T>G 577;21|18 Hom;T>G 972;0|30 N N - 7 97369391 97369391 T C snp UTR3 *159T>C TAC1 Tac1 ENSG00000006128 tachykinin precursor 1 chr7:97361220-97369784 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] multiple sclerosis; Schizophrenia; several psychiatric disorders; Type 2 Diabetes| edema | rosiglitazone; Autism; Asthma; slow transit constipation; Bulimia; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy; alcohol consumption; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; respiratory syncytial virus bronchiolitis; Heart Failure Mice homozygous for a knock-out allele exhibit absence of agonist-induced hyperalgesia and an impaired response to chemical irritation of the urinary tract. Mice homozygous for a different knock-out allele display hypoalgesia, and reduced anxiety- and depression-related behaviors. G alpha (q) signalling events GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0006954;inflammatory response;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007217;tachykinin receptor signaling pathway;IEA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007320;insemination;TAS|GO:0007616;long-term memory;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0008306;associative learning;IEA|GO:0009582;detection of abiotic stimulus;TAS|GO:0009725;response to hormone;IEA|GO:0010459;negative regulation of heart rate;IEA|GO:0010634;positive regulation of epithelial cell migration;IEA|GO:0019233;sensory perception of pain;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0043278;response to morphine;IEA|GO:0045760;positive regulation of action potential;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0046878;positive regulation of saliva secretion;IEA|GO:0048265;response to pain;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IEA|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000854;positive regulation of corticosterone secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005886;plasma membrane;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA GO:0031835;substance P receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAC1 https://www.uniprot.org/uniprot/P20366 https://www.ncbi.nlm.nih.gov/omim/?term=162320 http://www.informatics.jax.org/searchtool/Search.do?query=TAC1&submit=Quick%0D%391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAC1 rs12532490 0.203874 0 0 1 0 0 UTR3 UTR3 UTR3 TAC1(NM_013998:c.*159T>C,NM_003182:c.*159T>C,NM_013997:c.*159T>C,NM_013996:c.*159T>C) TAC1(uc003uop.4:c.*159T>C,uc003uoq.4:c.*159T>C,uc003uor.4:c.*159T>C,uc003uos.4:c.*159T>C) ENSG00000006128(ENST00000319273:c.*159T>C,ENST00000346867:c.*159T>C,ENST00000350485:c.*159T>C) Na Na Na Na Na Na Het;T>C 33;6|2 Ref Hom;T>C 186;0|5 N N - 7 97486213 97486213 T C snp intronic ASNS Asns ENSG00000070669 asparagine synthetase (glutamine-hydrolyzing) chr7:97481430-97501854 The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Asparagine synthetase deficiency Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including Amino acid synthesis and interconversion (transamination) GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;IEA|GO:0006529;asparagine biosynthetic process;IDA|GO:0006541;glutamine metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009416;response to light stimulus;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009636;response to toxic substance;IEA|GO:0031427;response to methotrexate;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032354;response to follicle-stimulating hormone;IEA|GO:0032870;cellular response to hormone stimulus;IEA|GO:0036499;PERK-mediated unfolded protein response;TAS|GO:0042149;cellular response to glucose starvation;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043200;response to amino acid;IEA|GO:0045931;positive regulation of mitotic cell cycle;IDA|GO:0070981;L-asparagine biosynthetic process;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004066;asparagine synthase (glutamine-hydrolyzing) activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IBA|GO:0048037;cofactor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASNS https://www.uniprot.org/uniprot/P08243 https://hpo.jax.org/app/browse/search?q=ASNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=108370 http://www.informatics.jax.org/searchtool/Search.do?query=ASNS&submit=Quick%0D%1366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASNS rs2074891 0.386182 0 0 1 0 0 intronic intronic intronic ASNS ASNS ENSG00000070669 Na Na Na Na Na Na Het;T>C 261;12|9 Het;T>C 188;13|7 Hom;T>C 494;0|14 N N - 7 97487971 97487971 T C snp intronic ASNS Asns ENSG00000070669 asparagine synthetase (glutamine-hydrolyzing) chr7:97481430-97501854 The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Asparagine synthetase deficiency Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including Amino acid synthesis and interconversion (transamination) GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;IEA|GO:0006529;asparagine biosynthetic process;IDA|GO:0006541;glutamine metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009416;response to light stimulus;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009636;response to toxic substance;IEA|GO:0031427;response to methotrexate;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032354;response to follicle-stimulating hormone;IEA|GO:0032870;cellular response to hormone stimulus;IEA|GO:0036499;PERK-mediated unfolded protein response;TAS|GO:0042149;cellular response to glucose starvation;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043200;response to amino acid;IEA|GO:0045931;positive regulation of mitotic cell cycle;IDA|GO:0070981;L-asparagine biosynthetic process;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004066;asparagine synthase (glutamine-hydrolyzing) activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IBA|GO:0048037;cofactor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASNS https://www.uniprot.org/uniprot/P08243 https://hpo.jax.org/app/browse/search?q=ASNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=108370 http://www.informatics.jax.org/searchtool/Search.do?query=ASNS&submit=Quick%0D%1366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASNS rs7792744 0.384784 0 0 1 0 0 intronic intronic intronic ASNS ASNS ENSG00000070669 Na Na Na Na Na Na Het;T>C 69;6|3 Ref Hom;T>C 130;0|4 N N - 7 97488733 97488733 T C snp intronic ASNS Asns ENSG00000070669 asparagine synthetase (glutamine-hydrolyzing) chr7:97481430-97501854 The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] Asparagine synthetase deficiency Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including Amino acid synthesis and interconversion (transamination) GO:0001889;liver development;IEA|GO:0006520;cellular amino acid metabolic process;IEA|GO:0006529;asparagine biosynthetic process;IDA|GO:0006541;glutamine metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009416;response to light stimulus;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009636;response to toxic substance;IEA|GO:0031427;response to methotrexate;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032354;response to follicle-stimulating hormone;IEA|GO:0032870;cellular response to hormone stimulus;IEA|GO:0036499;PERK-mediated unfolded protein response;TAS|GO:0042149;cellular response to glucose starvation;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043200;response to amino acid;IEA|GO:0045931;positive regulation of mitotic cell cycle;IDA|GO:0070981;L-asparagine biosynthetic process;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004066;asparagine synthase (glutamine-hydrolyzing) activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042803;protein homodimerization activity;IBA|GO:0048037;cofactor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASNS https://www.uniprot.org/uniprot/P08243 https://hpo.jax.org/app/browse/search?q=ASNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=108370 http://www.informatics.jax.org/searchtool/Search.do?query=ASNS&submit=Quick%0D%1366ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASNS rs7797354 0.371805 0.3537 0.3926 1 0 0 intronic intronic intronic ASNS ASNS ENSG00000070669 Na Na Na Na Na Na Het;T>C 214;11|10 Het;T>C 147;10|7 Hom;T>C 681;0|22 N N - 7 97504191 97504191 A C snp ncRNA_intronic MGC72080 rs10264151 0.265375 0 0 1 0 0 intergenic ncRNA_intronic intergenic ASNS(dist=2337),MIR5692A1(dist=88779) MGC72080 ENSG00000070669(dist=2337),ENSG00000235982(dist=8403) Na Na Na Na Na Na Het;A>C 708;41|29 Het;A>C 1007;43|38 Hom;A>C 2059;3|72 N N - 7 97593885 97593885 C T snp upstream;downstream ENSG00000266668 rs7784883 0.134784 0 0 1 0 0 downstream ncRNA_intronic upstream;downstream MIR5692A1,MIR5692A2 MGC72080 ENSG00000266668;ENSG00000266318 Na Na Na Na Na Na Het;C>T 393;7|11 Het;C>T 269;13|8 Hom;C>T 760;0|18 N N - 7 97593887 97593887 C G snp upstream;downstream ENSG00000266668 rs7784885 0.597244 0 0 1 0 0 downstream ncRNA_intronic upstream;downstream MIR5692A1,MIR5692A2 MGC72080 ENSG00000266668;ENSG00000266318 Na Na Na Na Na Na Het;C>G 393;7|10 Het;C>G 269;13|8 Hom;C>G 760;0|18 N N - 7 97595215 97595215 G A snp downstream OR7E38P rs11983172 0.122804 0 0 1 0 0 downstream ncRNA_intronic downstream MGC72080 MGC72080 ENSG00000183444 Na Na Na Na Na Na Het;G>A 169;5|6 Ref Hom;G>A 176;0|6 N N - 7 97595601 97595601 G A snp ncRNA_exonic OR7E38P rs7794912 0.134585 0 0 1 0 0 downstream ncRNA_intronic ncRNA_exonic MGC72080 MGC72080 ENSG00000183444 Na Na Na Na Na Na Het;G>A 2295;102|100 Het;G>A 1963;67|85 Hom;G>A 5036;1|182 N N - 7 97599835 97599835 C T snp ncRNA_intronic MGC72080 rs36017699 0.129393 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic MGC72080 MGC72080 ENSG00000243554 Na Na Na Na Na Na Het;C>T 107;3|4 Het;C>T 65;4|3 Hom;C>T 178;0|6 N N - 7 97784061 97784061 T C snp intronic LMTK2 Lmtk2 ENSG00000164715 lemur tyrosine kinase 2 chr7:97736197-97838945 The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] Chronic renal failure|Kidney Failure, Chronic; prostate cancer; Echocardiography; Body Fat Distribution; null; Body Weights and Measures; Prostatic Neoplasms Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. GO:0001881;receptor recycling;IMP|GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032456;endocytic recycling;IMP|GO:0033572;transferrin transport;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045022;early endosome to late endosome transport;IMP|GO:0046777;protein autophosphorylation;IDA GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030426;growth cone;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004864;protein phosphatase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0070853;myosin VI binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMTK2 https://www.ncbi.nlm.nih.gov/omim/?term=610989 http://www.informatics.jax.org/searchtool/Search.do?query=LMTK2&submit=Quick%0D%11372ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMTK2 rs17435590 0.22504 0.4057 0.4018 1 0 0 intronic intronic intronic LMTK2 LMTK2 ENSG00000164715 Na Na Na Na Na Na Het;T>C 719;33|33 Het;T>C 870;24|41 Hom;T>C 1610;0|60 N N - 7 97816327 97816327 C T snp intronic LMTK2 Lmtk2 ENSG00000164715 lemur tyrosine kinase 2 chr7:97736197-97838945 The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] Chronic renal failure|Kidney Failure, Chronic; prostate cancer; Echocardiography; Body Fat Distribution; null; Body Weights and Measures; Prostatic Neoplasms Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. GO:0001881;receptor recycling;IMP|GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032456;endocytic recycling;IMP|GO:0033572;transferrin transport;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045022;early endosome to late endosome transport;IMP|GO:0046777;protein autophosphorylation;IDA GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030426;growth cone;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004864;protein phosphatase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0070853;myosin VI binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMTK2 https://www.ncbi.nlm.nih.gov/omim/?term=610989 http://www.informatics.jax.org/searchtool/Search.do?query=LMTK2&submit=Quick%0D%11372ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMTK2 rs6465657 0.222843 0.4033 0.4005 1 0 0 intronic intronic intronic LMTK2 LMTK2 ENSG00000164715 Na Na Na Na Na Na Het;C>T 1149;51|51 Het;C>T 912;60|45 Hom;C>T 2096;1|76 N N - 7 97822115 97822115 T A snp nonsynonymous SNV T2338A L780M aliphatic,hydrophobic,neutral hydrophobic,neutral LMTK2 Lmtk2 ENSG00000164715 lemur tyrosine kinase 2 chr7:97736197-97838945 The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] Chronic renal failure|Kidney Failure, Chronic; prostate cancer; Echocardiography; Body Fat Distribution; null; Body Weights and Measures; Prostatic Neoplasms Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. GO:0001881;receptor recycling;IMP|GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032456;endocytic recycling;IMP|GO:0033572;transferrin transport;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045022;early endosome to late endosome transport;IMP|GO:0046777;protein autophosphorylation;IDA GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030426;growth cone;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004864;protein phosphatase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0070853;myosin VI binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMTK2 https://www.ncbi.nlm.nih.gov/omim/?term=610989 http://www.informatics.jax.org/searchtool/Search.do?query=LMTK2&submit=Quick%0D%11372ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMTK2 rs11765552 0.223842 0.4045 0.4013 0.23 3 13 exonic exonic exonic LMTK2 LMTK2 ENSG00000164715 nonsynonymous SNV nonsynonymous SNV unknown LMTK2:NM_014916:exon11:c.T2338A:p.L780M, LMTK2:uc003upd.2:exon11:c.T2338A:p.L780M, UNKNOWN Het;T>A 2517;99|107 Het;T>A 1499;84|69 Hom;T>A 4534;2|166 N N - 7 97822210 97822210 G A snp synonymous SNV G2433A P811P hydrophobic,neutral hydrophobic,neutral LMTK2 Lmtk2 ENSG00000164715 lemur tyrosine kinase 2 chr7:97736197-97838945 The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] Chronic renal failure|Kidney Failure, Chronic; prostate cancer; Echocardiography; Body Fat Distribution; null; Body Weights and Measures; Prostatic Neoplasms Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. GO:0001881;receptor recycling;IMP|GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032456;endocytic recycling;IMP|GO:0033572;transferrin transport;IMP|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045022;early endosome to late endosome transport;IMP|GO:0046777;protein autophosphorylation;IDA GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030426;growth cone;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004864;protein phosphatase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0070853;myosin VI binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMTK2 https://www.ncbi.nlm.nih.gov/omim/?term=610989 http://www.informatics.jax.org/searchtool/Search.do?query=LMTK2&submit=Quick%0D%11372ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMTK2 rs3801294 0.223842 0.4044 0.4015 1 0 0 exonic exonic exonic LMTK2 LMTK2 ENSG00000164715 synonymous SNV synonymous SNV unknown LMTK2:NM_014916:exon11:c.G2433A:p.P811P, LMTK2:uc003upd.2:exon11:c.G2433A:p.P811P, UNKNOWN Het;G>A 1946;122|86 Het;G>A 1377;91|61 Hom;G>A 5426;1|194 N N - 7 97846856 97846859 CGAG C indel intronic TECPR1 Tecpr1 ENSG00000205356 tectonin beta-propeller repeat containing 1 chr7:97843936-97881563 This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. GO:0006914;autophagy;IDA|GO:0097352;autophagosome maturation;IMP GO:0000421;autophagosome membrane;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TECPR1 https://www.ncbi.nlm.nih.gov/omim/?term=614781 http://www.informatics.jax.org/searchtool/Search.do?query=TECPR1&submit=Quick%0D%17503ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR1 rs11471393 0.75619 0.7694 0.8142 1 0 0 intronic intronic intronic TECPR1 TECPR1 ENSG00000205356 Na Na Na Na Na Na Het;-GAG 969;43|28 Het;-GAG 935;26|25 Hom;-GAG 1780;0|41 N N - 7 97852899 97852899 A G snp intronic TECPR1 Tecpr1 ENSG00000205356 tectonin beta-propeller repeat containing 1 chr7:97843936-97881563 This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. GO:0006914;autophagy;IDA|GO:0097352;autophagosome maturation;IMP GO:0000421;autophagosome membrane;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TECPR1 https://www.ncbi.nlm.nih.gov/omim/?term=614781 http://www.informatics.jax.org/searchtool/Search.do?query=TECPR1&submit=Quick%0D%17503ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR1 rs2270595 0.796526 0 0 1 0 0 intronic intronic intronic TECPR1 TECPR1 ENSG00000205356 Na Na Na Na Na Na Het;A>G 503;11|22 Het;A>G 129;12|8 Hom;A>G 667;0|25 N N - 7 97855462 97855462 C A snp intronic TECPR1 Tecpr1 ENSG00000205356 tectonin beta-propeller repeat containing 1 chr7:97843936-97881563 This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. GO:0006914;autophagy;IDA|GO:0097352;autophagosome maturation;IMP GO:0000421;autophagosome membrane;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TECPR1 https://www.ncbi.nlm.nih.gov/omim/?term=614781 http://www.informatics.jax.org/searchtool/Search.do?query=TECPR1&submit=Quick%0D%17503ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR1 rs10953245 0.250799 0 0 1 0 0 intronic intronic intronic TECPR1 TECPR1 ENSG00000205356 Na Na Na Na Na Na Het;C>A 53;2|4 Ref Hom;C>A 120;0|6 N N - 7 97861407 97861407 C T snp intronic TECPR1 Tecpr1 ENSG00000205356 tectonin beta-propeller repeat containing 1 chr7:97843936-97881563 This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. GO:0006914;autophagy;IDA|GO:0097352;autophagosome maturation;IMP GO:0000421;autophagosome membrane;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TECPR1 https://www.ncbi.nlm.nih.gov/omim/?term=614781 http://www.informatics.jax.org/searchtool/Search.do?query=TECPR1&submit=Quick%0D%17503ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECPR1 rs34304553 0.253195 0 0 1 0 0 intronic intronic intronic TECPR1 TECPR1 ENSG00000205356 Na Na Na Na Na Na Het;C>T 216;16|9 Het;C>T 58;8|3 Hom;C>T 421;0|13 N N - 7 98307826 98307826 A G snp intergenic NPTX2 Nptx2 ENSG00000106236 neuronal pentraxin 2 chr7:98246609-98259180 This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009] autism; Autism Mice homozygous for a null mutation of this gene display a mild alteration in retinal ganglion cell innervation but are fertile with no obvious behavioral abnormalities. GO:0007268;chemical synaptic transmission;NAS|GO:0008306;associative learning;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0003674;molecular_function;ND|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NPTX2 https://www.uniprot.org/uniprot/P47972 https://www.ncbi.nlm.nih.gov/omim/?term=600750 http://www.informatics.jax.org/searchtool/Search.do?query=NPTX2&submit=Quick%0D%3463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPTX2 rs11772403 0.138578 0 0 1 0 0 intergenic intergenic intergenic NPTX2(dist=48645),TMEM130(dist=136285) NPTX2(dist=48645),TMEM130(dist=136285) ENSG00000106236(dist=48646),ENSG00000207204(dist=84515) Na Na Na Na Na Na Het;A>G 139;5|5 Het;A>G 33;5|2 Hom;A>G 316;0|10 N N - 7 98991944 98991944 C T snp intronic ARPC1B Arpc1b ENSG00000130429 actin related protein 2/3 complex subunit 1B chr7:98971872-98992424 This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011] RHO GTPases Activate WASPs and WAVEs GO:0006928;movement of cell or subcellular component;TAS|GO:0030833;regulation of actin filament polymerization;IEA|GO:0032355;response to estradiol;IEA|GO:0034314;Arp2/3 complex-mediated actin nucleation;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043627;response to estrogen;IEA|GO:0048013;ephrin receptor signaling pathway;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005885;Arp2/3 protein complex;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0036284;tubulobulbar complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0032403;protein complex binding;IEA|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARPC1B https://www.uniprot.org/uniprot/O15143 https://hpo.jax.org/app/browse/search?q=ARPC1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604223 http://www.informatics.jax.org/searchtool/Search.do?query=ARPC1B&submit=Quick%0D%6370ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARPC1B rs10243678 0.456869 0 0 1 0 0 intronic intronic intronic ARPC1B ARPC1B ENSG00000130429 Na Na Na Na Na Na Het;C>T 216;8|8 Het;C>T 169;3|6 Hom;C>T 368;0|12 N N - 7 99027044 99027044 T C snp intronic ATP5J2-PTCD1 Ptcd1 ENSG00000248919 ATP5J2-PTCD1 readthrough chr7:99017372-99063820 This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy. http://www.genecards.org/index.php?path=/Search/keyword/ATP5J2-PTCD1 http://www.informatics.jax.org/searchtool/Search.do?query=ATP5J2-PTCD1&submit=Quick%0D%19906ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP5J2-PTCD1 rs2240384 0.465455 0 0 1 0 0 intronic intronic intronic ATP5J2-PTCD1,PTCD1 ATP5J2-PTCD1,PTCD1 ENSG00000106246,ENSG00000248919 Na Na Na Na Na Na Het;T>C 107;4|4 Het;T>C 34;5|2 Hom;T>C 176;0|5 N N - 7 99575320 99575320 G A snp intergenic AZGP1 Azgp1 ENSG00000160862 alpha-2-glycoprotein 1, zinc-binding chr7:99564343-99573780 Mice homozygous for a knock-out allele exhibit impaired lipolysis and increased body weight when fed standard food or a high fat diet. Miscellaneous transport and binding events GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0001895;retina homeostasis;IEP|GO:0007155;cell adhesion;IDA|GO:0008285;negative regulation of cell proliferation;NAS|GO:0019882;antigen processing and presentation;IBA|GO:0055085;transmembrane transport;TAS|GO:0071806;protein transmembrane transport;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IBA|GO:0070062;extracellular exosome;IDA GO:0001948;glycoprotein binding;IPI|GO:0003823;antigen binding;IBA|GO:0004540;ribonuclease activity;NAS|GO:0005515;protein binding;IPI|GO:0008320;protein transmembrane transporter activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/AZGP1 https://www.ncbi.nlm.nih.gov/omim/?term=194460 http://www.informatics.jax.org/searchtool/Search.do?query=AZGP1&submit=Quick%0D%10520ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AZGP1 rs557864240 0.00539137 0 0 1 0 0 intergenic intergenic intergenic AZGP1(dist=1585),AZGP1P1(dist=3065) AZGP1(dist=1585),AZGP1P1(dist=3065) ENSG00000160862(dist=1540),ENSG00000214313(dist=3065) Na Na Na Na Na Na Het;G>A 47;4|4 Het;G>A 87;3|6 Hom;G>A 144;0|6 N N - 7 99633733 99633733 G A snp UTR3 *1913G>A ZKSCAN1 Zkscan1 ENSG00000106261 zinc finger with KRAB and SCAN domains 1 chr7:99613204-99639312 The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZKSCAN1 https://www.uniprot.org/uniprot/P17029 https://www.ncbi.nlm.nih.gov/omim/?term=601260 http://www.informatics.jax.org/searchtool/Search.do?query=ZKSCAN1&submit=Quick%0D%3468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZKSCAN1 rs35058708 0.649361 0 0 1 0 0 UTR3 UTR3 UTR3 ZKSCAN1(NM_003439:c.*1913G>A,NM_001287054:c.*1913G>A,NM_001287055:c.*1913G>A) ZKSCAN1(uc003usk.1:c.*1913G>A,uc003usl.1:c.*1913G>A,uc003usm.1:c.*1913G>A) ENSG00000106261(ENST00000324306:c.*1913G>A,ENST00000535170:c.*1913G>A) Na Na Na Na Na Na Het;G>A 2324;94|96 Het;G>A 2334;105|106 Hom;G>A 6851;0|202 N N - 7 99635369 99635369 C A snp UTR3 *3549C>A ZKSCAN1 Zkscan1 ENSG00000106261 zinc finger with KRAB and SCAN domains 1 chr7:99613204-99639312 The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZKSCAN1 https://www.uniprot.org/uniprot/P17029 https://www.ncbi.nlm.nih.gov/omim/?term=601260 http://www.informatics.jax.org/searchtool/Search.do?query=ZKSCAN1&submit=Quick%0D%3468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZKSCAN1 rs1141057 0.664736 0 0 1 0 0 UTR3 UTR3 UTR3 ZKSCAN1(NM_003439:c.*3549C>A,NM_001287054:c.*3549C>A,NM_001287055:c.*3549C>A) ZKSCAN1(uc003usk.1:c.*3549C>A,uc003usl.1:c.*3549C>A,uc003usm.1:c.*3549C>A) ENSG00000106261(ENST00000324306:c.*3549C>A) Na Na Na Na Na Na Het;C>A 633;44|26 Het;C>A 560;40|26 Hom;C>A 1498;0|54 N N - 7 99637242 99637242 G A snp UTR3 *5422G>A ZKSCAN1 Zkscan1 ENSG00000106261 zinc finger with KRAB and SCAN domains 1 chr7:99613204-99639312 The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZKSCAN1 https://www.uniprot.org/uniprot/P17029 https://www.ncbi.nlm.nih.gov/omim/?term=601260 http://www.informatics.jax.org/searchtool/Search.do?query=ZKSCAN1&submit=Quick%0D%3468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZKSCAN1 rs4729567 0.625399 0 0 1 0 0 UTR3 intergenic UTR3 ZKSCAN1(NM_003439:c.*5422G>A,NM_001287054:c.*5422G>A,NM_001287055:c.*5422G>A) ZKSCAN1(dist=1839),ZSCAN21(dist=10175) ENSG00000106261(ENST00000324306:c.*5422G>A) Na Na Na Na Na Na Het;G>A 1488;71|63 Het;G>A 1330;75|61 Hom;G>A 3554;0|128 N N - 7 99639445 99639445 T C snp downstream ZKSCAN1 Zkscan1 ENSG00000106261 zinc finger with KRAB and SCAN domains 1 chr7:99613204-99639312 The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZKSCAN1 https://www.uniprot.org/uniprot/P17029 https://www.ncbi.nlm.nih.gov/omim/?term=601260 http://www.informatics.jax.org/searchtool/Search.do?query=ZKSCAN1&submit=Quick%0D%3468ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZKSCAN1 rs4729568 0.664736 0 0 1 0 0 downstream intergenic downstream ZKSCAN1 ZKSCAN1(dist=4042),ZSCAN21(dist=7972) ENSG00000106261 Na Na Na Na Na Na Het;T>C 243;16|10 Het;T>C 177;9|7 Hom;T>C 650;0|19 N N - 7 99691740 99691740 G A snp intronic MCM7 Mcm7 ENSG00000166508 minichromosome maintenance complex component 7 chr7:99690351-99699563 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] breast cancer; Autism Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells. Removal of licensing factors from origins GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006268;DNA unwinding involved in DNA replication;IEA|GO:0006270;DNA replication initiation;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0042325;regulation of phosphorylation;IMP|GO:0042493;response to drug;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071466;cellular response to xenobiotic stimulus;IEA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000785;chromatin;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0042555;MCM complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003678;DNA helicase activity;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCM7 https://www.ncbi.nlm.nih.gov/omim/?term=600592 http://www.informatics.jax.org/searchtool/Search.do?query=MCM7&submit=Quick%0D%11812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCM7 rs1527423 0.536941 0.4580 0.5480 1 0 0 intronic intronic intronic MCM7 MCM7 ENSG00000166508 Na Na Na Na Na Na Het;G>A 2577;115|115 Het;G>A 1663;127|83 Hom;G>A 4564;2|173 N N - 7 99699626 99699626 T C snp intronic AP4M1 Ap4m1 ENSG00000221838 adaptor related protein complex 4 mu 1 subunit chr7:99699172-99707968 This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] cerebral palsy spastic quadriplegic type 3 (CPSQ3) Lysosome Vesicle Biogenesis GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000138;Golgi trans cisterna;TAS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP4M1 https://hpo.jax.org/app/browse/search?q=AP4M1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602296 http://www.informatics.jax.org/searchtool/Search.do?query=AP4M1&submit=Quick%0D%18403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4M1 rs2293481 0.654752 0.5831 0.6225 1 0 0 intronic intronic intronic AP4M1 AP4M1 ENSG00000221838 Na Na Na Na Na Na Het;T>C 947;50|44 Het;T>C 1053;27|44 Hom;T>C 1476;0|54 N N - 7 99701176 99701176 G A snp intronic AP4M1 Ap4m1 ENSG00000221838 adaptor related protein complex 4 mu 1 subunit chr7:99699172-99707968 This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] cerebral palsy spastic quadriplegic type 3 (CPSQ3) Lysosome Vesicle Biogenesis GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000138;Golgi trans cisterna;TAS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP4M1 https://hpo.jax.org/app/browse/search?q=AP4M1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602296 http://www.informatics.jax.org/searchtool/Search.do?query=AP4M1&submit=Quick%0D%18403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4M1 rs999885 0.537141 0.4497 0.5456 1 0 0 intronic intronic intronic AP4M1 AP4M1 ENSG00000221838 Na Na Na Na Na Na Het;G>A 1280;90|64 Het;G>A 1123;67|54 Hom;G>A 3856;2|142 N N - 7 99701640 99701640 T C snp intronic AP4M1 Ap4m1 ENSG00000221838 adaptor related protein complex 4 mu 1 subunit chr7:99699172-99707968 This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] cerebral palsy spastic quadriplegic type 3 (CPSQ3) Lysosome Vesicle Biogenesis GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000138;Golgi trans cisterna;TAS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP4M1 https://hpo.jax.org/app/browse/search?q=AP4M1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602296 http://www.informatics.jax.org/searchtool/Search.do?query=AP4M1&submit=Quick%0D%18403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4M1 rs4729577 0.656949 0 0 1 0 0 intronic intronic intronic AP4M1 AP4M1 ENSG00000221838 Na Na Na Na Na Na Het;T>C 544;22|21 Het;T>C 312;20|11 Hom;T>C 1175;0|41 N N - 7 99704796 99704796 A T snp UTR3 *73T>A TAF6 Taf6 ENSG00000106290 TATA-box binding protein associated factor 6 chr7:99704693-99717464 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045786;negative regulation of cell cycle;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005829;cytosol;IDA|GO:0033276;transcription factor TFTC complex;IDA|GO:0043234;protein complex;IMP|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF6 https://www.uniprot.org/uniprot/P49848 https://hpo.jax.org/app/browse/search?q=TAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602955 http://www.informatics.jax.org/searchtool/Search.do?query=TAF6&submit=Quick%0D%3473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF6 rs13309 0.635184 0 0 1 0 0 UTR3 UTR3 UTR3 AP4M1(NM_004722:c.*291A>T),TAF6(NM_001190415:c.*73T>A,NM_005641:c.*73T>A,NM_139315:c.*73T>A) AP4M1(uc003utb.4:c.*291A>T,uc011kjh.2:c.*291A>T,uc003ute.4:c.*291A>T,uc003utf.4:c.*291A>T),TAF6(uc003utg.3:c.*73T>A,uc003uth.3:c.*73T>A,uc003utm.3:c.*73T>A,uc003uti.3:c.*73T>A,uc003utk.3:c.*73T>A,uc011kji.2:c.*73T>A) ENSG00000106290(ENST00000453269:c.*73T>A,ENST00000421980:c.*1698T>A,ENST00000452041:c.*73T>A,ENST00000472509:c.*73T>A,ENST00000418432:c.*73T>A,ENST00000344095:c.*73T>A,ENST00000437822:c.*73T>A),ENSG00000221838(ENST00000359593:c.*291A>T,ENST00000429084:c.*291A>T,ENST00000416938:c.*962A>T) Na Na Na Na Na Na Het;A>T 1508;107|75 Het;A>T 920;83|50 Hom;A>T 3426;0|126 N N - 7 99704827 99704827 A G snp UTR3 *42T>C TAF6 Taf6 ENSG00000106290 TATA-box binding protein associated factor 6 chr7:99704693-99717464 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045786;negative regulation of cell cycle;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005829;cytosol;IDA|GO:0033276;transcription factor TFTC complex;IDA|GO:0043234;protein complex;IMP|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF6 https://www.uniprot.org/uniprot/P49848 https://hpo.jax.org/app/browse/search?q=TAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602955 http://www.informatics.jax.org/searchtool/Search.do?query=TAF6&submit=Quick%0D%3473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF6 rs1050542 0.60603 0.5312 0.5941 1 0 0 UTR3 UTR3 UTR3 TAF6(NM_001190415:c.*42T>C,NM_005641:c.*42T>C,NM_139315:c.*42T>C) TAF6(uc003utg.3:c.*42T>C,uc003uth.3:c.*42T>C,uc003utm.3:c.*42T>C,uc003uti.3:c.*42T>C,uc003utk.3:c.*42T>C,uc011kji.2:c.*42T>C) ENSG00000106290(ENST00000453269:c.*42T>C,ENST00000421980:c.*1667T>C,ENST00000452041:c.*42T>C,ENST00000472509:c.*42T>C,ENST00000418432:c.*42T>C,ENST00000344095:c.*42T>C,ENST00000437822:c.*42T>C),ENSG00000221838(ENST00000416938:c.*993A>G) Na Na Na Na Na Na Het;A>G 1843;129|87 Het;A>G 1048;109|55 Hom;A>G 4954;2|188 N N - 7 99706303 99706303 A G snp UTR3 *2469A>G AP4M1 Ap4m1 ENSG00000221838 adaptor related protein complex 4 mu 1 subunit chr7:99699172-99707968 This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] cerebral palsy spastic quadriplegic type 3 (CPSQ3) Lysosome Vesicle Biogenesis GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000138;Golgi trans cisterna;TAS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP4M1 https://hpo.jax.org/app/browse/search?q=AP4M1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602296 http://www.informatics.jax.org/searchtool/Search.do?query=AP4M1&submit=Quick%0D%18403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4M1 rs4134923 0.657947 0 0 1 0 0 intronic intronic UTR3 TAF6 AP4M1,TAF6 ENSG00000221838(ENST00000416938:c.*2469A>G) Na Na Na Na Na Na Het;A>G 111;6|4 Het;A>G 87;1|3 Hom;A>G 181;0|5 N N - 7 99707712 99707712 A G snp intronic TAF6 Taf6 ENSG00000106290 TATA-box binding protein associated factor 6 chr7:99704693-99717464 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045786;negative regulation of cell cycle;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005829;cytosol;IDA|GO:0033276;transcription factor TFTC complex;IDA|GO:0043234;protein complex;IMP|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF6 https://www.uniprot.org/uniprot/P49848 https://hpo.jax.org/app/browse/search?q=TAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602955 http://www.informatics.jax.org/searchtool/Search.do?query=TAF6&submit=Quick%0D%3473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF6 rs2272338 0.657947 0.5736 0.6124 1 0 0 intronic intronic intronic TAF6 AP4M1,TAF6 ENSG00000106290,ENSG00000221838 Na Na Na Na Na Na Het;A>G 1639;76|68 Het;A>G 1219;47|49 Hom;A>G 3478;0|115 N N - 7 99707950 99707950 C T snp UTR3 *47C>T AP4M1 Ap4m1 ENSG00000221838 adaptor related protein complex 4 mu 1 subunit chr7:99699172-99707968 This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] cerebral palsy spastic quadriplegic type 3 (CPSQ3) Lysosome Vesicle Biogenesis GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006895;Golgi to endosome transport;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0000138;Golgi trans cisterna;TAS|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0030119;AP-type membrane coat adaptor complex;TAS|GO:0030131;clathrin adaptor complex;IEA|GO:0031904;endosome lumen;TAS|GO:0032588;trans-Golgi network membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP4M1 https://hpo.jax.org/app/browse/search?q=AP4M1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602296 http://www.informatics.jax.org/searchtool/Search.do?query=AP4M1&submit=Quick%0D%18403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP4M1 rs4134917 0.654952 0.5845 0.6109 1 0 0 intronic intronic UTR3 TAF6 TAF6 ENSG00000221838(ENST00000450807:c.*47C>T) Na Na Na Na Na Na Het;C>T 662;16|29 Het;C>T 763;32|35 Hom;C>T 1451;0|51 N N - 7 99710584 99710584 A AG indel intronic TAF6 Taf6 ENSG00000106290 TATA-box binding protein associated factor 6 chr7:99704693-99717464 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045786;negative regulation of cell cycle;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005829;cytosol;IDA|GO:0033276;transcription factor TFTC complex;IDA|GO:0043234;protein complex;IMP|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF6 https://www.uniprot.org/uniprot/P49848 https://hpo.jax.org/app/browse/search?q=TAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602955 http://www.informatics.jax.org/searchtool/Search.do?query=TAF6&submit=Quick%0D%3473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF6 rs397759758 0.655351 0.5732 0.6107 1 0 0 intronic intronic intronic TAF6 TAF6 ENSG00000106290 Na Na Na Na Na Na Het;+G 1347;40|46 Het;+G 594;15|20 Hom;+G 1527;0|44 N N - 7 99711461 99711462 AC A indel intronic TAF6 Taf6 ENSG00000106290 TATA-box binding protein associated factor 6 chr7:99704693-99717464 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045786;negative regulation of cell cycle;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005829;cytosol;IDA|GO:0033276;transcription factor TFTC complex;IDA|GO:0043234;protein complex;IMP|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF6 https://www.uniprot.org/uniprot/P49848 https://hpo.jax.org/app/browse/search?q=TAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602955 http://www.informatics.jax.org/searchtool/Search.do?query=TAF6&submit=Quick%0D%3473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF6 rs34119670 0.627796 0 0.5998 1 0 0 intronic intronic intronic TAF6 TAF6 ENSG00000106290 Na Na Na Na Na Na Het;-C 2135;44|93 Het;-C 1388;54|64 Hom;-C 3576;1|130 N N - 7 99716901 99716901 C G snp UTR5 -5069G>C TAF6 Taf6 ENSG00000106290 TATA-box binding protein associated factor 6 chr7:99704693-99717464 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045786;negative regulation of cell cycle;IDA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005829;cytosol;IDA|GO:0033276;transcription factor TFTC complex;IDA|GO:0043234;protein complex;IMP|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF6 https://www.uniprot.org/uniprot/P49848 https://hpo.jax.org/app/browse/search?q=TAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602955 http://www.informatics.jax.org/searchtool/Search.do?query=TAF6&submit=Quick%0D%3473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF6 rs3807479 0.654752 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic TAF6(NM_005641:c.-5069G>C,NM_139315:c.-5069G>C) TAF6(uc003utm.3:c.-5069G>C,uc003utk.3:c.-5069G>C) ENSG00000242798 Na Na Na Na Na Na Het;C>G 106;7|4 Het;C>G 211;13|9 Hom;C>G 333;0|11 N N - 7 99747130 99747130 G A snp synonymous SNV G12A A4A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LAMTOR4 Lamtor4 ENSG00000188186 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 chr7:99746530-99753567 Regulation of PTEN gene transcription GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061462;protein localization to lysosome;IMP|GO:0071230;cellular response to amino acid stimulus;IMP GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0071986;Ragulator complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/LAMTOR4 http://www.informatics.jax.org/searchtool/Search.do?query=LAMTOR4&submit=Quick%0D%15985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMTOR4 rs12878 0.597045 0.6032 0.5952 1 0 0 exonic exonic exonic LAMTOR4 LAMTOR4 ENSG00000188186 synonymous SNV synonymous SNV unknown LAMTOR4:NM_001008395:exon2:c.G12A:p.A4A, LAMTOR4:uc003utq.2:exon2:c.G12A:p.A4A, UNKNOWN Het;G>A 1397;96|71 Het;G>A 1365;68|67 Hom;G>A 3944;0|153 N N - 7 99751017 99751017 A G snp intronic LAMTOR4 Lamtor4 ENSG00000188186 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 chr7:99746530-99753567 Regulation of PTEN gene transcription GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061462;protein localization to lysosome;IMP|GO:0071230;cellular response to amino acid stimulus;IMP GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0071986;Ragulator complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/LAMTOR4 http://www.informatics.jax.org/searchtool/Search.do?query=LAMTOR4&submit=Quick%0D%15985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMTOR4 rs3736591 0.588259 0.5941 0.5872 1 0 0 intronic intronic intronic LAMTOR4 LAMTOR4 ENSG00000188186 Na Na Na Na Na Na Het;A>G 1517;68|67 Het;A>G 1311;60|61 Hom;A>G 2879;0|107 N N - 7 99751281 99751281 G T snp unknown LAMTOR4 Lamtor4 ENSG00000188186 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 chr7:99746530-99753567 Regulation of PTEN gene transcription GO:0007050;cell cycle arrest;TAS|GO:0008361;regulation of cell size;IMP|GO:0016241;regulation of macroautophagy;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061462;protein localization to lysosome;IMP|GO:0071230;cellular response to amino acid stimulus;IMP GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0071986;Ragulator complex;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IDA http://www.genecards.org/index.php?path=/Search/keyword/LAMTOR4 http://www.informatics.jax.org/searchtool/Search.do?query=LAMTOR4&submit=Quick%0D%15985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMTOR4 rs3736590 0.546326 0 0.5977 0.11 1 9 intronic intronic exonic LAMTOR4 LAMTOR4 ENSG00000188186 Na Na unknown Na Na UNKNOWN Het;G>T 292;12|10 Het;G>T 245;7|9 Hom;G>T 586;0|17 N N - 7 99753121 99753121 A G snp intronic C7orf43 BC037034 ENSG00000146826 chromosome 7 open reading frame 43 chr7:99752043-99756338 GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/C7orf43 https://www.uniprot.org/uniprot/Q8WVR3 http://www.informatics.jax.org/searchtool/Search.do?query=C7orf43&submit=Quick%0D%8916ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C7orf43 rs2272337 0.547324 0.5516 0.6089 1 0 0 intronic intronic intronic C7orf43 C7orf43 ENSG00000146826 Na Na Na Na Na Na Het;A>G 1228;59|50 Het;A>G 945;24|41 Hom;A>G 2151;0|71 N N - 7 99753870 99753870 G A snp intronic C7orf43 BC037034 ENSG00000146826 chromosome 7 open reading frame 43 chr7:99752043-99756338 GO:0005815;microtubule organizing center;IDA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/C7orf43 https://www.uniprot.org/uniprot/Q8WVR3 http://www.informatics.jax.org/searchtool/Search.do?query=C7orf43&submit=Quick%0D%8916ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C7orf43 rs11764584 0 0 0 1 0 0 intronic intronic intronic C7orf43 C7orf43 ENSG00000146826 Na Na Na Na Na Na Het;G>A 101;4|4 Het;G>A 45;2|3 Hom;G>A 195;0|8 N N - 7 99757612 99757612 G A snp nonsynonymous SNV C1400T A467V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GAL3ST4 Gal3st4 ENSG00000197093 galactose-3-O-sulfotransferase 4 chr7:99756867-99766373 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008] GO:0006790;sulfur compound metabolic process;NAS|GO:0007267;cell-cell signaling;NAS|GO:0009100;glycoprotein metabolic process;NAS|GO:0009247;glycolipid biosynthetic process;IEA|GO:0009311;oligosaccharide metabolic process;NAS|GO:0030166;proteoglycan biosynthetic process;NAS GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0001733;galactosylceramide sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050656;3'-phosphoadenosine 5'-phosphosulfate binding;NAS|GO:0050694;galactose 3-O-sulfotransferase activity;IDA|GO:0050698;proteoglycan sulfotransferase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/GAL3ST4 https://www.ncbi.nlm.nih.gov/omim/?term=608235 http://www.informatics.jax.org/searchtool/Search.do?query=GAL3ST4&submit=Quick%0D%16542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAL3ST4 rs3823646 0.506589 0.5064 0.5375 0.33 4 12 exonic exonic exonic GAL3ST4 GAL3ST4 ENSG00000197093 nonsynonymous SNV nonsynonymous SNV unknown GAL3ST4:NM_024637:exon4:c.C1400T:p.A467V, GAL3ST4:uc003utu.3:exon4:c.C1400T:p.A467V,GAL3ST4:uc022aii.1:exon2:c.C1214T:p.A405V,GAL3ST4:uc003utt.3:exon3:c.C1400T:p.A467V, UNKNOWN Het;G>A 1073;55|46 Het;G>A 725;42|35 Hom;G>A 2234;0|80 N N - 7 99758136 99758136 T G snp synonymous SNV A876C A292A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GAL3ST4 Gal3st4 ENSG00000197093 galactose-3-O-sulfotransferase 4 chr7:99756867-99766373 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008] GO:0006790;sulfur compound metabolic process;NAS|GO:0007267;cell-cell signaling;NAS|GO:0009100;glycoprotein metabolic process;NAS|GO:0009247;glycolipid biosynthetic process;IEA|GO:0009311;oligosaccharide metabolic process;NAS|GO:0030166;proteoglycan biosynthetic process;NAS GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0001733;galactosylceramide sulfotransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0050656;3'-phosphoadenosine 5'-phosphosulfate binding;NAS|GO:0050694;galactose 3-O-sulfotransferase activity;IDA|GO:0050698;proteoglycan sulfotransferase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/GAL3ST4 https://www.ncbi.nlm.nih.gov/omim/?term=608235 http://www.informatics.jax.org/searchtool/Search.do?query=GAL3ST4&submit=Quick%0D%16542ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAL3ST4 rs3800951 0.543331 0.5488 0.5514 0.25 2 8 exonic exonic exonic GAL3ST4 GAL3ST4 ENSG00000197093 synonymous SNV synonymous SNV unknown GAL3ST4:NM_024637:exon4:c.A876C:p.A292A, GAL3ST4:uc003utu.3:exon4:c.A876C:p.A292A,GAL3ST4:uc022aii.1:exon2:c.A690C:p.A230A,GAL3ST4:uc003utt.3:exon3:c.A876C:p.A292A, UNKNOWN Het;T>G 2532;112|103 Het;T>G 1656;91|78 Hom;T>G 5404;2|189 N N - 7 99771305 99771305 C CTCTT indel UTR3 *862G>AAGAG GPC2 Gpc2 ENSG00000213420 glypican 2 chr7:99767229-99774995 Mice homozygous for a knock-out allele are phenotypically normal. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007224;smoothened signaling pathway;IEA|GO:0030182;neuron differentiation;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC2 http://www.informatics.jax.org/searchtool/Search.do?query=GPC2&submit=Quick%0D%18126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC2 rs398005583 0.240415 0 0 1 0 0 intronic UTR3 intronic GPC2 GPC2(uc003utw.1:c.*862G>AAGAG) ENSG00000213420 Na Na Na Na Na Na Het;+TCTT 32;5|2 Ref Hom;+TCTT 298;0|7 N N - 7 99796146 99796146 A C snp synonymous SNV A1293C P431P hydrophobic,neutral hydrophobic,neutral STAG3 Stag3 ENSG00000066923 stromal antigen 3 chr7:99775186-99819111 The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014] ovarian cancer Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes. Meiotic synapsis GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007129;synapsis;IEA|GO:0007130;synaptonemal complex assembly;TAS|GO:0034502;protein localization to chromosome;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;TAS|GO:0000800;lateral element;IEA|GO:0000802;transverse filament;IEA|GO:0001673;male germ cell nucleus;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;TAS|GO:0005694;chromosome;IEA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/STAG3 https://www.uniprot.org/uniprot/Q9UJ98 https://hpo.jax.org/app/browse/search?q=STAG3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608489 http://www.informatics.jax.org/searchtool/Search.do?query=STAG3&submit=Quick%0D%34ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAG3 rs3735241 0.5 0.4688 0.4975 1 0 0 exonic exonic exonic STAG3 STAG3 ENSG00000066923 synonymous SNV synonymous SNV unknown STAG3:NM_012447:exon13:c.A1293C:p.P431P,STAG3:NM_001282716:exon13:c.A1293C:p.P431P,STAG3:NM_001282718:exon11:c.A1119C:p.P373P,STAG3:NM_001282717:exon13:c.A1293C:p.P431P, STAG3:uc010lgs.1:exon12:c.A657C:p.P219P,STAG3:uc011kjk.1:exon11:c.A1119C:p.P373P,STAG3:uc003utx.1:exon13:c.A1293C:p.P431P, UNKNOWN Het;A>C 2262;90|102 Het;A>C 1118;108|59 Hom;A>C 3523;1|134 N N - 8 100287517 100287518 CT C indel intronic VPS13B Vps13b ENSG00000132549 vacuolar protein sorting 13 homolog B chr8:100025494-100889808 This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Alzheimer Disease; Melanoma|Skin Neoplasms; Uric Acid; Cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Exercise Test; osteoporosis GO:0006810;transport;IEA|GO:0015031;protein transport;IEA http://www.genecards.org/index.php?path=/Search/keyword/VPS13B https://www.uniprot.org/uniprot/Q7Z7G8 https://hpo.jax.org/app/browse/search?q=VPS13B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607817 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13B&submit=Quick%0D%6695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13B rs11332378 0.561302 0 0.3966 1 0 0 intronic intronic intronic VPS13B VPS13B ENSG00000132549 Na Na Na Na Na Na Het;-T 148;10|15 Het;-T 186;3|12 Hom;-T 666;0|33 N N - 8 100708621 100708621 C T snp ncRNA_exonic AC018442.1 rs531451865 0.00119808 0 0 1 0 0 intronic intronic ncRNA_exonic VPS13B VPS13B ENSG00000235683 Na Na Na Na Na Na Het;C>T 52;3|3 Het;C>T 121;2|6 Hom;C>T 119;0|6 N N - 8 102781721 102781721 G A snp intronic NCALD Ncald ENSG00000104490 neurocalcin delta chr8:102698771-103137135 This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Diabetes Mellitus, Type 2|Diabetic Neuropathies; Tobacco Use Disorder; Cognitive performance Homozygotes for a knock-out allele show reduced fertility, decreased body and brain weight, enlarged lateral ventricles, a reduction in subgranular zone length of the dentate gyrus, impaired adult neurogenesis in the hippocampus, and increased axonal length in spinal motor neurons. Activation of Ca-permeable Kainate Receptor GO:0003073;regulation of systemic arterial blood pressure;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0019722;calcium-mediated signaling;IEA|GO:0034220;ion transmembrane transport;IEA GO:0005622;intracellular;IDA|GO:0005829;cytosol;TAS|GO:0030130;clathrin coat of trans-Golgi network vesicle;NAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015631;tubulin binding;IDA|GO:0030276;clathrin binding;IDA|GO:0043014;alpha-tubulin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCALD https://www.uniprot.org/uniprot/P61601 https://www.ncbi.nlm.nih.gov/omim/?term=606722 http://www.informatics.jax.org/searchtool/Search.do?query=NCALD&submit=Quick%0D%3130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCALD rs6988793 0.602236 0 0 1 0 0 intronic intronic intronic NCALD NCALD ENSG00000104490 Na Na Na Na Na Na Het;G>A 167;6|6 Ref Hom;G>A 302;0|9 N N - 8 104147026 104147026 C G snp ncRNA_exonic AK001351 rs2454012 0.474641 0 0 1 0 0 ncRNA_intronic ncRNA_exonic intronic BAALC-AS2 AK001351 ENSG00000236939 Na Na Na Na Na Na Het;C>G 1242;25|45 Het;C>G 868;39|32 Hom;C>G 1768;0|57 N N - 8 104151381 104151381 A C snp ncRNA_intronic BAALC-AS2 rs2256164 0.540735 0 0 1 0 0 ncRNA_intronic intronic intronic BAALC-AS2 C8orf56 ENSG00000236939 Na Na Na Na Na Na Het;A>C 181;11|7 Het;A>C 288;7|13 Hom;A>C 751;0|23 N N - 8 104411282 104411282 T C snp UTR3 *1694A>G SLC25A32 Slc25a32 ENSG00000164933 solute carrier family 25 member 32 chr8:104410863-104427417 This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Breath Tests Mice homozygous for a knock-out allele exhibit embryonic lethality and fully penetrant cranial neural tube defects that can be partially rescued by maternal calcium formate supplementation. Metabolism of folate and pterines GO:0006544;glycine metabolic process;IGI|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015884;folic acid transport;NAS|GO:0035350;FAD transmembrane transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:1904947;folic acid import into mitochondrion;ISS GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0031966;mitochondrial membrane;IEA GO:0008517;folic acid transporter activity;TAS|GO:0015230;FAD transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A32 https://hpo.jax.org/app/browse/search?q=SLC25A32&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610815 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A32&submit=Quick%0D%11426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A32 rs1061195 0.255591 0 0 1 0 0 UTR3 UTR3 UTR3 SLC25A32(NM_030780:c.*1357A>G) SLC25A32(uc031tca.1:c.*1357A>G,uc003yll.4:c.*1357A>G,uc011lhr.3:c.*1357A>G) ENSG00000164933(ENST00000521645:c.*1694A>G,ENST00000523256:c.*1686A>G,ENST00000297578:c.*1357A>G) Na Na Na Na Na Na Het;T>C 1382;49|59 Het;T>C 996;52|46 Hom;T>C 3504;2|128 N N - 8 104413535 104413535 T TC indel intronic SLC25A32 Slc25a32 ENSG00000164933 solute carrier family 25 member 32 chr8:104410863-104427417 This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Breath Tests Mice homozygous for a knock-out allele exhibit embryonic lethality and fully penetrant cranial neural tube defects that can be partially rescued by maternal calcium formate supplementation. Metabolism of folate and pterines GO:0006544;glycine metabolic process;IGI|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015884;folic acid transport;NAS|GO:0035350;FAD transmembrane transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:1904947;folic acid import into mitochondrion;ISS GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0031966;mitochondrial membrane;IEA GO:0008517;folic acid transporter activity;TAS|GO:0015230;FAD transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A32 https://hpo.jax.org/app/browse/search?q=SLC25A32&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610815 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A32&submit=Quick%0D%11426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A32 rs34813768 0.255192 0 0 1 0 0 intronic intronic intronic SLC25A32 SLC25A32 ENSG00000164933 Na Na Na Na Na Na Het;+C 31;2|2 Ref Hom;+C 124;0|4 N N - 8 104420100 104420100 T C snp intronic SLC25A32 Slc25a32 ENSG00000164933 solute carrier family 25 member 32 chr8:104410863-104427417 This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Breath Tests Mice homozygous for a knock-out allele exhibit embryonic lethality and fully penetrant cranial neural tube defects that can be partially rescued by maternal calcium formate supplementation. Metabolism of folate and pterines GO:0006544;glycine metabolic process;IGI|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015884;folic acid transport;NAS|GO:0035350;FAD transmembrane transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:1904947;folic acid import into mitochondrion;ISS GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0031966;mitochondrial membrane;IEA GO:0008517;folic acid transporter activity;TAS|GO:0015230;FAD transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A32 https://hpo.jax.org/app/browse/search?q=SLC25A32&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610815 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A32&submit=Quick%0D%11426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A32 rs3134254 0.22484 0 0 1 0 0 intronic intronic intronic SLC25A32 SLC25A32 ENSG00000164933 Na Na Na Na Na Na Het;T>C 458;27|20 Het;T>C 504;19|21 Hom;T>C 1411;0|46 N N - 8 104420200 104420200 T A snp intronic SLC25A32 Slc25a32 ENSG00000164933 solute carrier family 25 member 32 chr8:104410863-104427417 This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Breath Tests Mice homozygous for a knock-out allele exhibit embryonic lethality and fully penetrant cranial neural tube defects that can be partially rescued by maternal calcium formate supplementation. Metabolism of folate and pterines GO:0006544;glycine metabolic process;IGI|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0015884;folic acid transport;NAS|GO:0035350;FAD transmembrane transport;IEA|GO:0046655;folic acid metabolic process;TAS|GO:1904947;folic acid import into mitochondrion;ISS GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0031966;mitochondrial membrane;IEA GO:0008517;folic acid transporter activity;TAS|GO:0015230;FAD transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A32 https://hpo.jax.org/app/browse/search?q=SLC25A32&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610815 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A32&submit=Quick%0D%11426ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A32 rs3134255 0.254992 0 0 1 0 0 intronic intronic intronic SLC25A32 SLC25A32 ENSG00000164933 Na Na Na Na Na Na Het;T>A 71;5|3 Ref Hom;T>A 169;0|5 N N - 8 104427541 104427541 C T snp nonsynonymous SNV C323T P108L hydrophobic,neutral aliphatic,hydrophobic,neutral DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs3134296 0.222045 0.1424 0.1846 0.11 1 9 exonic exonic exonic DCAF13 DCAF13 ENSG00000164934 nonsynonymous SNV nonsynonymous SNV unknown DCAF13:NM_015420:exon1:c.C323T:p.P108L, DCAF13:uc003yln.3:exon1:c.C323T:p.P108L, UNKNOWN Het;C>T 3523;152|156 Het;C>T 2973;89|125 Hom;C>T 6686;0|248 N N - 8 104427578 104427578 T C snp synonymous SNV T360C S120S polar,hydrophilic,neutral polar,hydrophilic,neutral DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs3134297 0.253594 0.2123 0.2357 1 0 0 exonic exonic exonic DCAF13 DCAF13 ENSG00000164934 synonymous SNV synonymous SNV unknown DCAF13:NM_015420:exon1:c.T360C:p.S120S, DCAF13:uc003yln.3:exon1:c.T360C:p.S120S, UNKNOWN Het;T>C 3367;136|134 Het;T>C 2600;79|108 Hom;T>C 5813;2|205 N N - 8 104432545 104432545 A G snp nonsynonymous SNV A580G I194V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs3134253 0.253395 0.2148 0.2350 0.15 2 13 exonic exonic exonic DCAF13 DCAF13 ENSG00000164934 nonsynonymous SNV nonsynonymous SNV unknown DCAF13:NM_015420:exon2:c.A580G:p.I194V, DCAF13:uc003yln.3:exon2:c.A580G:p.I194V, UNKNOWN Het;A>G 1783;61|72 Het;A>G 1868;100|83 Hom;A>G 4961;0|167 N N - 8 104442666 104442666 G A snp intronic DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs7816297 0.251597 0 0 1 0 0 intronic intronic intronic DCAF13 DCAF13 ENSG00000164934 Na Na Na Na Na Na Het;G>A 132;8|5 Het;G>A 113;2|4 Hom;G>A 245;0|7 N N - 8 104445009 104445009 T G snp intronic DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs1370005 0.254193 0.2141 0.2373 1 0 0 intronic intronic intronic DCAF13 DCAF13 ENSG00000164934 Na Na Na Na Na Na Het;T>G 505;34|24 Het;T>G 1384;59|64 Hom;T>G 3772;0|135 N N - 8 104452281 104452281 A G snp intronic DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs3098217 0.251597 0 0 1 0 0 intronic intronic intronic DCAF13 DCAF13 ENSG00000164934 Na Na Na Na Na Na Het;A>G 505;21|17 Het;A>G 1077;27|40 Hom;A>G 1338;0|44 N N - 8 104452621 104452625 TAAAA T indel intronic DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs58480092 0.221446 0 0 1 0 0 intronic intronic intronic DCAF13 DCAF13 ENSG00000164934 Na Na Na Na Na Na Het;-AAAA 347;12|10 Het;-AAAA 204;11|7 Hom;-AAAA 728;0|17 N N - 8 104453603 104453603 G A snp intronic DCAF13 Dcaf13 ENSG00000164934 DDB1 and CUL4 associated factor 13 chr8:104426942-104455681 Breath Tests; Bone Mineral Density Mice homozygous for a knock-out allele exhibit pre-implantation lethality with failure of morula compaction. Neddylation GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0016567;protein ubiquitination;IC|GO:0042254;ribosome biogenesis;IEA|GO:0043687;post-translational protein modification;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0003723;RNA binding;IDA|GO:0030331;estrogen receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCAF13 https://www.ncbi.nlm.nih.gov/omim/?term=616196 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF13&submit=Quick%0D%11427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF13 rs3098215 0.251797 0 0 1 0 0 intronic intronic intronic DCAF13 DCAF13 ENSG00000164934 Na Na Na Na Na Na Het;G>A 579;17|19 Het;G>A 124;14|7 Hom;G>A 437;0|13 N N - 8 104513343 104513343 C G snp ncRNA_intronic AC012213.1 rs35745796 0.29373 0 0 1 0 0 intronic intronic ncRNA_intronic RIMS2 RIMS2 ENSG00000253477 Na Na Na Na Na Na Het;C>G 162;32|11 Het;C>G 212;25|10 Hom;C>G 949;0|35 N N - 8 104513395 104513395 T C snp ncRNA_intronic AC012213.1 rs36056848 0.294329 0 0 1 0 0 intronic intronic ncRNA_intronic RIMS2 RIMS2 ENSG00000253477 Na Na Na Na Na Na Het;T>C 51;20|4 Het;T>C 66;9|5 Hom;T>C 419;0|14 N N - 8 10463944 10463944 A C snp UTR3 *461T>G RP1L1 Rp1l1 ENSG00000183638 RP1 like 1 chr8:10463859-10569697 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010] OCCULT MACULAR DYSTROPHY Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. GO:0035556;intracellular signal transduction;IEA|GO:0042461;photoreceptor cell development;IEA|GO:0045494;photoreceptor cell maintenance;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005930;axoneme;IEA|GO:0032391;photoreceptor connecting cilium;IEA http://www.genecards.org/index.php?path=/Search/keyword/RP1L1 https://hpo.jax.org/app/browse/search?q=RP1L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608581 http://www.informatics.jax.org/searchtool/Search.do?query=RP1L1&submit=Quick%0D%15032ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RP1L1 rs7816990 0.560503 0 0 1 0 0 UTR3 UTR3 UTR3 RP1L1(NM_178857:c.*461T>G) RP1L1(uc003wtc.3:c.*461T>G) ENSG00000183638(ENST00000382483:c.*461T>G) Na Na Na Na Na Na Het;A>C 120;7|7 Ref Hom;A>C 752;0|27 N N - 8 104672044 104672044 C T snp intronic RIMS2 Rims2 ENSG00000176406 regulating synaptic membrane exocytosis 2 chr8:104512976-105268322 Cholesterol, LDL; Tobacco Use Disorder; Glucose; Forced Expiratory Volume; smoking cessation; Heroin Dependence; Forced Vital Capacity Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. GO:0006886;intracellular protein transport;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0017157;regulation of exocytosis;ISS|GO:0019933;cAMP-mediated signaling;ISS|GO:0030073;insulin secretion;ISS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061669;spontaneous neurotransmitter secretion;ISS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RIMS2 https://www.ncbi.nlm.nih.gov/omim/?term=606630 http://www.informatics.jax.org/searchtool/Search.do?query=RIMS2&submit=Quick%0D%13854ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS2 rs10097250 0.294529 0 0 1 0 0 intronic intronic intronic RIMS2 RIMS2 ENSG00000176406 Na Na Na Na Na Na Het;C>T 38;2|2 Het;C>T 77;4|4 Hom;C>T 160;0|7 N N - 8 10584212 10584212 C T snp intronic SOX7 Sox7 ENSG00000171056 SRY-box 7 chr8:10582909-10697357 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008] Most embryos homozygous for a knock-out allele exhibit embryonic growth retardation, abnormal vitelline vascular remodeling and pericardial edema, and die during organogenesis. Depending on the genetic background, a portion of heterozygotes can develop congenital retrosternal diaphragmatic hernias. Deactivation of the beta-catenin transactivating complex GO:0001706;endoderm formation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOX7 https://www.ncbi.nlm.nih.gov/omim/?term=612202 http://www.informatics.jax.org/searchtool/Search.do?query=SOX7&submit=Quick%0D%12840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX7 rs10100209 0.635982 0.6653 0.5955 1 0 0 intronic intronic intronic SOX7 SOX7 ENSG00000171056,ENSG00000258724 Na Na Na Na Na Na Het;C>T 471;27|20 Ref Hom;C>T 1344;0|47 N N - 8 106048770 106048770 G C snp intronic ENSG00000253350 rs285853 0.282748 0 0 1 0 0 intergenic intergenic intronic LRP12(dist=447518),ZFPM2(dist=282377) Mir_584(dist=370952),ZFPM2(dist=282377) ENSG00000253350 Na Na Na Na Na Na Het;G>C 70;6|3 Het;G>C 112;5|4 Hom;G>C 144;0|5 N N - 8 106049076 106049080 TACAC T indel intronic ENSG00000253350 rs150402400 0 0 0 1 0 0 intergenic intergenic intronic LRP12(dist=447824),ZFPM2(dist=282067) Mir_584(dist=371258),ZFPM2(dist=282067) ENSG00000253350 Na Na Na Na Na Na Het;-ACAC 59;10|3 Ref Hom;-ACAC 278;0|7 N N - 8 106049082 106049082 C T snp intronic ENSG00000253350 rs62509516 0 0 0 1 0 0 intergenic intergenic intronic LRP12(dist=447830),ZFPM2(dist=282065) Mir_584(dist=371264),ZFPM2(dist=282065) ENSG00000253350 Na Na Na Na Na Na Het;C>T 68;9|3 Ref Hom;C>T 287;0|7 N N - 8 106049084 106049084 C T snp intronic ENSG00000253350 rs62509517 0 0 0 1 0 0 intergenic intergenic intronic LRP12(dist=447832),ZFPM2(dist=282063) Mir_584(dist=371266),ZFPM2(dist=282063) ENSG00000253350 Na Na Na Na Na Na Het;C>T 71;9|3 Ref Hom;C>T 287;0|7 N N - 8 106049086 106049086 C T snp intronic ENSG00000253350 rs62509518 0 0 0 1 0 0 intergenic intergenic intronic LRP12(dist=447834),ZFPM2(dist=282061) Mir_584(dist=371268),ZFPM2(dist=282061) ENSG00000253350 Na Na Na Na Na Na Het;C>T 71;8|3 Ref Hom;C>T 287;0|7 N N - 8 106049088 106049088 C T snp intronic ENSG00000253350 rs62509519 0 0 0 1 0 0 intergenic intergenic intronic LRP12(dist=447836),ZFPM2(dist=282059) Mir_584(dist=371270),ZFPM2(dist=282059) ENSG00000253350 Na Na Na Na Na Na Het;C>T 74;7|3 Ref Hom;C>T 287;0|7 N N - 8 10623633 10623633 G C snp ncRNA_intronic AC105001.1 rs891556 0.598642 0 0 1 0 0 intronic intronic ncRNA_intronic PINX1 PINX1,SOX7 ENSG00000248896 Na Na Na Na Na Na Het;G>C 113;4|6 Ref Hom;G>C 259;0|11 N N - 8 106646683 106646683 A T snp intronic ZFPM2 Zfpm2 ENSG00000169946 zinc finger protein, FOG family member 2 chr8:106330920-106816760 The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008] Mental Competency; heart anomalies, congenital; Platelet Count; Aorta; Vascular Endothelial Growth Factor A; Heart Rate; Hip; Tobacco Use Disorder; Body Weights and Measures; Socioeconomic Factors; Erythrocyte Indices Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. Factors involved in megakaryocyte development and platelet production GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003148;outflow tract septum morphogenesis;IMP|GO:0003221;right ventricular cardiac muscle tissue morphogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007506;gonadal mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060548;negative regulation of cell death;IEA|GO:2000020;positive regulation of male gonad development;IEA|GO:2000195;negative regulation of female gonad development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001105;RNA polymerase II transcription coactivator activity;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFPM2 https://hpo.jax.org/app/browse/search?q=ZFPM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603693 http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM2&submit=Quick%0D%12601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM2 rs4734883 0.191893 0 0 1 0 0 intronic intronic intronic ZFPM2 ZFPM2 ENSG00000169946 Na Na Na Na Na Na Het;A>T 615;10|23 Het;A>T 305;21|15 Hom;A>T 759;0|27 N N - 8 108058286 108058286 G T snp intergenic ABRA Abra ENSG00000174429 actin binding Rho activating protein chr8:107771711-107782473 Lipoprotein(a); Echocardiography; Cholesterol, LDL; Intercellular Adhesion Molecule-1; Cholesterol; Body Mass Index; Lipoproteins, VLDL; Macular Degeneration Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. GO:0000060;protein import into nucleus, translocation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABRA https://www.ncbi.nlm.nih.gov/omim/?term=609747 http://www.informatics.jax.org/searchtool/Search.do?query=ABRA&submit=Quick%0D%13518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABRA rs3019910 0.696286 0 0 1 0 0 intergenic intergenic intergenic ABRA(dist=275814),ANGPT1(dist=203424) ABRA(dist=275814),ANGPT1(dist=203424) ENSG00000174429(dist=275813),ENSG00000254146(dist=127142) Na Na Na Na Na Na Het;G>T 121;3|6 Ref Hom;G>T 71;0|4 N N - 8 108082605 108082605 T C snp intergenic ABRA Abra ENSG00000174429 actin binding Rho activating protein chr8:107771711-107782473 Lipoprotein(a); Echocardiography; Cholesterol, LDL; Intercellular Adhesion Molecule-1; Cholesterol; Body Mass Index; Lipoproteins, VLDL; Macular Degeneration Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. GO:0000060;protein import into nucleus, translocation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABRA https://www.ncbi.nlm.nih.gov/omim/?term=609747 http://www.informatics.jax.org/searchtool/Search.do?query=ABRA&submit=Quick%0D%13518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABRA rs2927123 0.397165 0 0 1 0 0 intergenic intergenic intergenic ABRA(dist=300133),ANGPT1(dist=179105) ABRA(dist=300133),ANGPT1(dist=179105) ENSG00000174429(dist=300132),ENSG00000254146(dist=102823) Na Na Na Na Na Na Het;T>C 122;4|4 Het;T>C 206;3|6 Hom;T>C 183;0|5 N N - 8 108941705 108941705 G A snp intronic RSPO2 Rspo2 ENSG00000147655 R-spondin 2 chr8:108911544-109095913 This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Body Weight Changes; Apolipoprotein A-I Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030177;positive regulation of Wnt signaling pathway;NAS|GO:0030282;bone mineralization;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0042489;negative regulation of odontogenesis of dentin-containing tooth;IEA|GO:0050896;response to stimulus;IEA|GO:0060437;lung growth;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IEA|GO:0060535;trachea cartilage morphogenesis;IEA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0009986;cell surface;IEA GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RSPO2 https://www.uniprot.org/uniprot/Q6UXX9 https://hpo.jax.org/app/browse/search?q=RSPO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610575 http://www.informatics.jax.org/searchtool/Search.do?query=RSPO2&submit=Quick%0D%9036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSPO2 rs593872 0.561102 0 0 1 0 0 intronic intronic intronic RSPO2 RSPO2 ENSG00000147655 Na Na Na Na Na Na Het;G>A 112;2|4 Ref Hom;G>A 166;0|5 N N - 8 108970264 108970264 T TCA indel intronic RSPO2 Rspo2 ENSG00000147655 R-spondin 2 chr8:108911544-109095913 This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Body Weight Changes; Apolipoprotein A-I Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030177;positive regulation of Wnt signaling pathway;NAS|GO:0030282;bone mineralization;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0042489;negative regulation of odontogenesis of dentin-containing tooth;IEA|GO:0050896;response to stimulus;IEA|GO:0060437;lung growth;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IEA|GO:0060535;trachea cartilage morphogenesis;IEA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0009986;cell surface;IEA GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RSPO2 https://www.uniprot.org/uniprot/Q6UXX9 https://hpo.jax.org/app/browse/search?q=RSPO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610575 http://www.informatics.jax.org/searchtool/Search.do?query=RSPO2&submit=Quick%0D%9036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSPO2 rs3039298 0.490216 0.4722 0.5790 1 0 0 intronic intronic intronic RSPO2 RSPO2 ENSG00000147655 Na Na Na Na Na Na Het;+CA 437;10|12 Het;+CA 130;14|5 Hom;+CA 638;0|15 N N - 8 108970367 108970367 A G snp nonsynonymous SNV T365C L122P aliphatic,hydrophobic,neutral hydrophobic,neutral RSPO2 Rspo2 ENSG00000147655 R-spondin 2 chr8:108911544-109095913 This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Body Weight Changes; Apolipoprotein A-I Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age. Regulation of FZD by ubiquitination GO:0001649;osteoblast differentiation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030177;positive regulation of Wnt signaling pathway;NAS|GO:0030282;bone mineralization;IEA|GO:0035115;embryonic forelimb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0042489;negative regulation of odontogenesis of dentin-containing tooth;IEA|GO:0050896;response to stimulus;IEA|GO:0060437;lung growth;IEA|GO:0060441;epithelial tube branching involved in lung morphogenesis;IEA|GO:0060535;trachea cartilage morphogenesis;IEA|GO:0071542;dopaminergic neuron differentiation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0009986;cell surface;IEA GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RSPO2 https://www.uniprot.org/uniprot/Q6UXX9 https://hpo.jax.org/app/browse/search?q=RSPO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610575 http://www.informatics.jax.org/searchtool/Search.do?query=RSPO2&submit=Quick%0D%9036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RSPO2 rs601558 0.490216 0.4729 0.5784 0.23 3 13 exonic exonic exonic RSPO2 RSPO2 ENSG00000147655 nonsynonymous SNV nonsynonymous SNV unknown RSPO2:NM_001282863:exon4:c.T365C:p.L122P,RSPO2:NM_178565:exon5:c.T557C:p.L186P, RSPO2:uc003ymr.3:exon4:c.T365C:p.L122P,RSPO2:uc003yms.3:exon5:c.T557C:p.L186P,RSPO2:uc003ymq.3:exon4:c.T356C:p.L119P, UNKNOWN Het;A>G 550;41|27 Het;A>G 895;50|43 Hom;A>G 2231;0|86 N N - 8 10920326 10920326 C T snp ncRNA_exonic AF131215.3 rs6601555 0.582268 0 0.5949 1 0 0 intronic intronic ncRNA_exonic XKR6 XKR6 ENSG00000254839 Na Na Na Na Na Na Het;C>T 1652;74|75 Het;C>T 1394;61|64 Hom;C>T 4341;0|167 N N - 8 11225910 11225910 A G snp ncRNA_exonic TDH rs2736283 0.495607 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic TDH TDH ENSG00000154316 Na Na Na Na Na Na Het;A>G 848;35|37 Het;A>G 909;56|44 Hom;A>G 1854;1|66 N N - 8 11226071 11226071 A G snp ncRNA_intronic C8orf12 rs11782430 0.28754 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic FAM167A-AS1 C8orf12 ENSG00000184608 Na Na Na Na Na Na Het;A>G 201;3|8 Het;A>G 89;2|4 Hom;A>G 220;0|6 N N - 8 112548592 112548592 C T snp ncRNA_intronic LINC02237 rs10093394 0.284944 0 0 1 0 0 intergenic intergenic ncRNA_intronic LOC101927487(dist=300160),CSMD3(dist=686567) KCNV1(dist=1560516),CSMD3(dist=686567) ENSG00000253434 Na Na Na Na Na Na Het;C>T 1279;57|59 Het;C>T 1135;54|56 Hom;C>T 3827;4|148 N N - 8 11295511 11295511 A G snp ncRNA_intronic C8orf12 rs2001463 0.726238 0 0.7046 1 0 0 ncRNA_intronic ncRNA_intronic intronic FAM167A-AS1 C8orf12 ENSG00000154319,ENSG00000184608 Na Na Na Na Na Na Het;A>G 726;23|30 Het;A>G 389;15|16 Hom;A>G 1246;0|43 N N - 8 11296091 11296091 G A snp ncRNA_exonic FAM167A-AS1 rs1057750 0.708267 0 0.6393 1 0 0 ncRNA_exonic ncRNA_exonic UTR3 FAM167A-AS1 C8orf12 ENSG00000184608(ENST00000284481:c.*40G>A,ENST00000533578:c.*40G>A) Na Na Na Na Na Na Het;G>A 1488;78|65 Het;G>A 1557;57|66 Hom;G>A 2585;1|89 N N - 8 11301753 11301753 A C snp nonsynonymous SNV T168G H56Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral FAM167A Fam167a ENSG00000154319 family with sequence similarity 167 member A chr8:11278972-11332224 Tobacco Use Disorder; Lupus Erythematosus, Systemic; Giant Cell Arteritis|Temporal Arteritis; systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; Arthritis, Rheumatoid; rheumatoid arthritis; Mucocutaneous Lymph Node Syndrome; systemic lupus erythematosus ; diabetes, type 1 ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus GO:0005783;endoplasmic reticulum;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM167A https://www.uniprot.org/uniprot/Q96KS9 https://www.ncbi.nlm.nih.gov/omim/?term=610085 http://www.informatics.jax.org/searchtool/Search.do?query=FAM167A&submit=Quick%0D%9759ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM167A rs3021513 0.997804 0.9938 0.9950 0.08 1 13 exonic exonic exonic FAM167A FAM167A ENSG00000154319 nonsynonymous SNV nonsynonymous SNV unknown FAM167A:NM_053279:exon2:c.T168G:p.H56Q, FAM167A:uc010lry.1:exon2:c.T168G:p.H56Q,FAM167A:uc003wtw.2:exon2:c.T168G:p.H56Q, UNKNOWN Het;A>C 1258;61|50 Het;A>C 1192;51|51 Hom;A>C 2573;0|84 N N - 8 11352056 11352056 A G snp UTR5 -48678A>G BLK Blk ENSG00000136573 BLK proto-oncogene, Src family tyrosine kinase chr8:11351510-11422113 This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; systemic lupus erythematosus; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|; Giant Cell Arteritis|Temporal Arteritis; Arthritis, Rheumatoid; Lupus Erythematosus, Systemic; rheumatoid arthritis Homozygous mutation of this gene does not result in a phenotype. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0032024;positive regulation of insulin secretion;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BLK https://www.uniprot.org/uniprot/P51451 https://hpo.jax.org/app/browse/search?q=BLK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191305 http://www.informatics.jax.org/searchtool/Search.do?query=BLK&submit=Quick%0D%7368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLK rs2250788 0.823682 0 0 1 0 0 UTR5 UTR5 UTR5 BLK(NM_001715:c.-48678A>G) BLK(uc003wty.3:c.-48678A>G) ENSG00000136573(ENST00000259089:c.-48678A>G,ENST00000529894:c.-53523A>G) Na Na Na Na Na Na Het;A>G 1339;76|59 Het;A>G 1418;58|67 Hom;A>G 3441;0|126 N N - 8 113585637 113585637 A G snp intronic CSMD3 Csmd3 ENSG00000164796 CUB and Sushi multiple domains 3 chr8:113235157-114449328 Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus GO:0050773;regulation of dendrite development;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSMD3 https://www.ncbi.nlm.nih.gov/omim/?term=608399 http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3 rs7014796 0.404952 0 0 1 0 0 intronic intronic intronic CSMD3 CSMD3 ENSG00000164796 Na Na Na Na Na Na Het;A>G 447;10|15 Het;A>G 315;10|10 Hom;A>G 660;0|21 N N - 8 11406593 11406593 T C snp synonymous SNV T330C S110S polar,hydrophilic,neutral polar,hydrophilic,neutral BLK Blk ENSG00000136573 BLK proto-oncogene, Src family tyrosine kinase chr8:11351510-11422113 This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; systemic lupus erythematosus; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|; Giant Cell Arteritis|Temporal Arteritis; Arthritis, Rheumatoid; Lupus Erythematosus, Systemic; rheumatoid arthritis Homozygous mutation of this gene does not result in a phenotype. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0032024;positive regulation of insulin secretion;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BLK https://www.uniprot.org/uniprot/P51451 https://hpo.jax.org/app/browse/search?q=BLK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191305 http://www.informatics.jax.org/searchtool/Search.do?query=BLK&submit=Quick%0D%7368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLK rs3816668 0.416933 0.5097 0.4830 1 0 0 exonic exonic exonic BLK BLK ENSG00000136573 synonymous SNV synonymous SNV unknown BLK:NM_001715:exon5:c.T330C:p.S110S, BLK:uc003wty.3:exon5:c.T330C:p.S110S, UNKNOWN Het;T>C 970;70|41 Het;T>C 1409;41|59 Hom;T>C 1833;0|68 N N - 8 11415572 11415572 A G snp intronic BLK Blk ENSG00000136573 BLK proto-oncogene, Src family tyrosine kinase chr8:11351510-11422113 This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; systemic lupus erythematosus; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|; Giant Cell Arteritis|Temporal Arteritis; Arthritis, Rheumatoid; Lupus Erythematosus, Systemic; rheumatoid arthritis Homozygous mutation of this gene does not result in a phenotype. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0032024;positive regulation of insulin secretion;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BLK https://www.uniprot.org/uniprot/P51451 https://hpo.jax.org/app/browse/search?q=BLK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191305 http://www.informatics.jax.org/searchtool/Search.do?query=BLK&submit=Quick%0D%7368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLK rs4841557 0.459864 0.6159 0.5313 1 0 0 intronic intronic intronic BLK BLK ENSG00000136573 Na Na Na Na Na Na Het;A>G 1101;20|45 Het;A>G 449;34|21 Hom;A>G 2459;0|92 N N - 8 11415597 11415597 C T snp intronic BLK Blk ENSG00000136573 BLK proto-oncogene, Src family tyrosine kinase chr8:11351510-11422113 This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; systemic lupus erythematosus; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|; Giant Cell Arteritis|Temporal Arteritis; Arthritis, Rheumatoid; Lupus Erythematosus, Systemic; rheumatoid arthritis Homozygous mutation of this gene does not result in a phenotype. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0032024;positive regulation of insulin secretion;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BLK https://www.uniprot.org/uniprot/P51451 https://hpo.jax.org/app/browse/search?q=BLK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191305 http://www.informatics.jax.org/searchtool/Search.do?query=BLK&submit=Quick%0D%7368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLK rs4841558 0.454473 0.6113 0.5304 1 0 0 intronic intronic intronic BLK BLK ENSG00000136573 Na Na Na Na Na Na Het;C>T 839;10|31 Het;C>T 302;19|14 Hom;C>T 1771;0|64 N N - 8 11422170 11422170 A G snp downstream BLK Blk ENSG00000136573 BLK proto-oncogene, Src family tyrosine kinase chr8:11351510-11422113 This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Lupus Erythematosus, Systemic|Scleroderma, Systemic|Systemic lupus erythematosus|Systemic Scleroderma; systemic lupus erythematosus; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Antiphospholipid Syndrome|; Giant Cell Arteritis|Temporal Arteritis; Arthritis, Rheumatoid; Lupus Erythematosus, Systemic; rheumatoid arthritis Homozygous mutation of this gene does not result in a phenotype. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0032024;positive regulation of insulin secretion;IMP|GO:0035556;intracellular signal transduction;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IDA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BLK https://www.uniprot.org/uniprot/P51451 https://hpo.jax.org/app/browse/search?q=BLK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191305 http://www.informatics.jax.org/searchtool/Search.do?query=BLK&submit=Quick%0D%7368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLK rs7840433 0.474042 0 0 1 0 0 downstream downstream downstream BLK BLK ENSG00000136573 Na Na Na Na Na Na Het;A>G 630;29|28 Het;A>G 224;26|14 Hom;A>G 972;0|34 N N - 8 115049071 115049071 G C snp intergenic CSMD3 Csmd3 ENSG00000164796 CUB and Sushi multiple domains 3 chr8:113235157-114449328 Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus GO:0050773;regulation of dendrite development;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSMD3 https://www.ncbi.nlm.nih.gov/omim/?term=608399 http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3 rs7838068 0.371605 0 0 1 0 0 intergenic intergenic intergenic CSMD3(dist=599829),TRPS1(dist=1371653) CSMD3(dist=599829),TRPS1(dist=1371653) ENSG00000206719(dist=85844),ENSG00000254339(dist=245225) Na Na Na Na Na Na Het;G>C 323;16|16 Ref Hom;G>C 1237;0|47 N N - 8 115498999 115498999 A G snp intergenic CSMD3 Csmd3 ENSG00000164796 CUB and Sushi multiple domains 3 chr8:113235157-114449328 Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus GO:0050773;regulation of dendrite development;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSMD3 https://www.ncbi.nlm.nih.gov/omim/?term=608399 http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3 rs6469525 0.294329 0 0 1 0 0 intergenic intergenic intergenic CSMD3(dist=1049757),TRPS1(dist=921725) CSMD3(dist=1049757),TRPS1(dist=921725) ENSG00000253499(dist=167859),ENSG00000253756(dist=304883) Na Na Na Na Na Na Het;A>G 340;7|11 Het;A>G 58;11|3 Hom;A>G 483;0|14 N N - 8 115749001 115749002 TA T indel intergenic CSMD3 Csmd3 ENSG00000164796 CUB and Sushi multiple domains 3 chr8:113235157-114449328 Hip; Waist Circumference; Waist-Hip Ratio; C-Reactive Protein; Erythrocyte Count; Tobacco Use Disorder; Diabetes Mellitus GO:0050773;regulation of dendrite development;ISS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSMD3 https://www.ncbi.nlm.nih.gov/omim/?term=608399 http://www.informatics.jax.org/searchtool/Search.do?query=CSMD3&submit=Quick%0D%11391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD3 rs147847286 0.110623 0 0 1 0 0 intergenic intergenic intergenic CSMD3(dist=1299759),TRPS1(dist=671722) CSMD3(dist=1299759),TRPS1(dist=671722) ENSG00000253499(dist=417861),ENSG00000253756(dist=54880) Na Na Na Na Na Na Het;-A 345;7|13 Het;-A 126;18|7 Hom;-A 1111;2|36 N N - 8 118702037 118702037 C A snp intergenic MED30 Med30 ENSG00000164758 mediator complex subunit 30 chr8:118532952-118552501 The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010] Mucocutaneous Lymph Node Syndrome Mice homozygous for an ENU-induced allele exhibit premature death associated with cachexia and a rapidly progressive cardiomyopathy. Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0016567;protein ubiquitination;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;IDA|GO:0030521;androgen receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA GO:0000151;ubiquitin ligase complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016592;mediator complex;IDA GO:0001104;RNA polymerase II transcription cofactor activity;IDA|GO:0003712;transcription cofactor activity;IDA|GO:0004872;receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;NAS|GO:0042809;vitamin D receptor binding;NAS|GO:0046966;thyroid hormone receptor binding;IDA|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MED30 https://www.ncbi.nlm.nih.gov/omim/?term=610237 http://www.informatics.jax.org/searchtool/Search.do?query=MED30&submit=Quick%0D%11385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED30 rs3105767 0.407548 0 0 1 0 0 intergenic intergenic intergenic MED30(dist=149536),EXT1(dist=109565) MED30(dist=149536),EXT1(dist=109565) ENSG00000164758(dist=149536),ENSG00000182197(dist=104692) Na Na Na Na Na Na Het;C>A 106;4|4 Ref Hom;C>A 51;0|2 N N - 8 119391791 119391791 T C snp synonymous SNV A471G L157L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SAMD12 Samd12 ENSG00000177570 sterile alpha motif domain containing 12 chr8:119201698-119634234 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/SAMD12 https://hpo.jax.org/app/browse/search?q=SAMD12&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=SAMD12&submit=Quick%0D%14049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD12 rs5020517 0.600639 0.7412 0.6339 1 0 0 exonic exonic exonic SAMD12 SAMD12 ENSG00000177570 synonymous SNV synonymous SNV unknown SAMD12:NM_207506:exon4:c.A471G:p.L157L, SAMD12:uc003yom.2:exon4:c.A471G:p.L157L, UNKNOWN Het;T>C 2727;91|117 Het;T>C 2051;95|89 Hom;T>C 5046;0|176 N N - 8 119633755 119633755 G A snp ncRNA_intronic SAMD12-AS1 rs2514599 0.480032 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic SAMD12-AS1 SAMD12-AS1 ENSG00000177570 Na Na Na Na Na Na Het;G>A 677;33|30 Het;G>A 539;24|23 Hom;G>A 1892;1|69 N N - 8 11973607 11973607 G GGT indel ncRNA_exonic FAM66D rs762283803 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;+GT 581;16|15 Ref Hom;+GT 1223;0|25 N N - 8 11973612 11973612 C A snp ncRNA_exonic FAM66D rs796322989 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;C>A 587;15|15 Ref Hom;C>A 1322;0|29 N N - 8 11973616 11973618 CCT C indel ncRNA_exonic FAM66D rs750508502 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;-CT 533;20|15 Ref Hom;-CT 1387;0|33 N N - 8 11973746 11973746 G C snp ncRNA_exonic FAM66D rs376560073 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>C 831;119|53 Ref Hom;G>C 1475;6|63 N N - 8 11985719 11985719 A T snp ncRNA_exonic LOC392196 rs2698943 0 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_exonic LOC392196 FAM66D,LOC100506990 ENSG00000254923 Na Na Na Na Na Na Het;A>T 1435;40|58 Het;A>T 598;21|24 Hom;A>T 937;0|34 N N - 8 11986849 11986849 C T snp ncRNA_intronic FAM66D rs12056796 0.347644 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;C>T 199;3|9 Het;C>T 148;4|9 Hom;C>T 287;0|7 N N - 8 11986862 11986862 G A snp ncRNA_intronic FAM66D rs2698945 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>A 199;3|9 Het;G>A 138;4|8 Hom;G>A 160;0|7 N N - 8 11989873 11989873 T TTG indel ncRNA_intronic FAM66D rs397703652 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;+TG 306;3|13 Het;+TG 417;2|15 Hom;+TG 143;0|4 N N - 8 11995484 11995484 C T snp synonymous SNV G786A P262P hydrophobic,neutral hydrophobic,neutral USP17L2 ENSG00000223443 ubiquitin specific peptidase 17-like family member 2 chr8:11994677-11996586 DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008] Ub-specific processing proteases GO:0000075;cell cycle checkpoint;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007093;mitotic cell cycle checkpoint;IMP|GO:0010955;negative regulation of protein processing;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030334;regulation of cell migration;IMP|GO:0031064;negative regulation of histone deacetylation;IMP|GO:0034260;negative regulation of GTPase activity;IDA|GO:0042127;regulation of cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IMP|GO:0043547;positive regulation of GTPase activity;IMP|GO:0050691;regulation of defense response to virus by host;IMP|GO:0070536;protein K63-linked deubiquitination;IDA|GO:0071108;protein K48-linked deubiquitination;IMP|GO:0071586;CAAX-box protein processing;IMP|GO:0090315;negative regulation of protein targeting to membrane;IMP|GO:1900027;regulation of ruffle assembly;IMP|GO:1900245;positive regulation of MDA-5 signaling pathway;IMP|GO:1900246;positive regulation of RIG-I signaling pathway;IMP GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005829;cytosol;TAS GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/USP17L2 https://www.ncbi.nlm.nih.gov/omim/?term=610186 http://www.informatics.jax.org/searchtool/Search.do?query=USP17L2&submit=Quick%0D%18471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP17L2 rs74614551 0.403954 0 0.4731 1 0 0 exonic exonic exonic USP17L2 USP17L2 ENSG00000223443 synonymous SNV synonymous SNV unknown USP17L2:NM_201402:exon1:c.G786A:p.P262P, USP17L2:uc003wvc.1:exon1:c.G786A:p.P262P, UNKNOWN Het;C>T 560;14|24 Het;C>T 118;13|7 Hom;C>T 391;0|16 N N - 8 12002381 12002381 G A snp ncRNA_intronic FAM66D rs9694677 0.411542 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>A 834;22|36 Het;G>A 677;27|32 Hom;G>A 653;2|27 N N - 8 12002911 12002911 G A snp ncRNA_intronic FAM66D rs537550402 0.000199681 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>A 929;150|49 Ref Hom;G>A 1208;2|43 N N - 8 12003391 12003391 A T snp ncRNA_intronic FAM66D rs3882689 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;A>T 7120;105|259 Het;A>T 4050;77|152 Hom;A>T 2266;1|80 N N - 8 12003974 12003974 G A snp ncRNA_intronic FAM66D rs11250191 0.366214 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>A 988;21|40 Het;G>A 880;15|38 Hom;G>A 494;0|18 N N - 8 12004520 12004520 G A snp ncRNA_intronic FAM66D rs9329266 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>A 4346;95|185 Het;G>A 2537;49|115 Hom;G>A 1683;0|61 N N - 8 12004655 12004655 G A snp ncRNA_intronic FAM66D rs9329267 0.50599 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;G>A 2584;37|109 Het;G>A 1019;26|43 Hom;G>A 868;0|32 N N - 8 12005083 12005083 C T snp ncRNA_intronic FAM66D rs13252294 0.497204 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic FAM66D FAM66D,LOC100506990 ENSG00000255052 Na Na Na Na Na Na Het;C>T 920;19|38 Het;C>T 547;34|23 Hom;C>T 876;0|34 N N - 8 12008410 12008410 G T snp ncRNA_exonic DEFB109P3 rs9694888 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic FAM66D FAM66D,LOC100506990 ENSG00000254866 Na Na Na Na Na Na Het;G>T 2561;49|95 Het;G>T 1606;46|61 Hom;G>T 1044;1|40 N N - 8 12008477 12008477 C T snp ncRNA_exonic DEFB109P3 rs9692622 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic FAM66D FAM66D,LOC100506990 ENSG00000254866 Na Na Na Na Na Na Het;C>T 4171;91|182 Het;C>T 2721;71|119 Hom;C>T 2121;1|81 N N - 8 12009063 12009063 G T snp upstream;downstream ENSG00000254866 rs55695019 0 0 0 1 0 0 downstream ncRNA_intronic upstream;downstream FAM66D LOC100506990 ENSG00000254866;ENSG00000255052 Na Na Na Na Na Na Het;G>T 327;4|15 Het;G>T 134;7|5 Hom;G>T 589;0|17 N N - 8 12009298 12009298 A G snp upstream;downstream ENSG00000254866 rs200748925 0.0493211 0 0 1 0 0 downstream ncRNA_intronic upstream;downstream FAM66D LOC100506990 ENSG00000254866;ENSG00000255052 Na Na Na Na Na Na Het;A>G 306;22|13 Het;A>G 407;19|18 Hom;A>G 787;0|30 N N - 8 120790378 120790378 G GA indel intronic TAF2 Taf2 ENSG00000064313 TATA-box binding protein associated factor 2 chr8:120743015-120845103 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008] Autosomal Recessive Mental Retardation RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006508;proteolysis;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051123;RNA polymerase II transcriptional preinitiation complex assembly;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0033276;transcription factor TFTC complex;IDA GO:0001075;transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly;IBA|GO:0001129;RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly;IBA|GO:0003682;chromatin binding;IBA|GO:0005515;protein binding;IPI|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/TAF2 https://www.uniprot.org/uniprot/Q6P1X5 https://hpo.jax.org/app/browse/search?q=TAF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604912 http://www.informatics.jax.org/searchtool/Search.do?query=TAF2&submit=Quick%0D%1128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF2 rs35033415 0.262979 0.3177 0.2691 1 0 0 intronic intronic intronic TAF2 TAF2 ENSG00000064313 Na Na Na Na Na Na Het;+A 172;7|9 Het;+A 248;6|12 Hom;+A 453;0|17 N N - 8 120793296 120793296 C T snp synonymous SNV G2250A Q750Q polar,hydrophilic,neutral polar,hydrophilic,neutral TAF2 Taf2 ENSG00000064313 TATA-box binding protein associated factor 2 chr8:120743015-120845103 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008] Autosomal Recessive Mental Retardation RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006508;proteolysis;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051123;RNA polymerase II transcriptional preinitiation complex assembly;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0033276;transcription factor TFTC complex;IDA GO:0001075;transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly;IBA|GO:0001129;RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly;IBA|GO:0003682;chromatin binding;IBA|GO:0005515;protein binding;IPI|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/TAF2 https://www.uniprot.org/uniprot/Q6P1X5 https://hpo.jax.org/app/browse/search?q=TAF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604912 http://www.informatics.jax.org/searchtool/Search.do?query=TAF2&submit=Quick%0D%1128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF2 rs7002501 0.263179 0.3189 0.2532 1 0 0 exonic exonic exonic TAF2 TAF2 ENSG00000064313 synonymous SNV synonymous SNV unknown TAF2:NM_003184:exon17:c.G2250A:p.Q750Q, TAF2:uc003you.3:exon17:c.G2250A:p.Q750Q, UNKNOWN Het;C>T 1318;38|51 Het;C>T 766;39|35 Hom;C>T 2604;0|89 N N - 8 120831856 120831856 T A snp intronic TAF2 Taf2 ENSG00000064313 TATA-box binding protein associated factor 2 chr8:120743015-120845103 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008] Autosomal Recessive Mental Retardation RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006508;proteolysis;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0051123;RNA polymerase II transcriptional preinitiation complex assembly;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0033276;transcription factor TFTC complex;IDA GO:0001075;transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly;IBA|GO:0001129;RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly;IBA|GO:0003682;chromatin binding;IBA|GO:0005515;protein binding;IPI|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/TAF2 https://www.uniprot.org/uniprot/Q6P1X5 https://hpo.jax.org/app/browse/search?q=TAF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604912 http://www.informatics.jax.org/searchtool/Search.do?query=TAF2&submit=Quick%0D%1128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF2 rs7003687 0.273363 0 0 1 0 0 intronic intronic intronic TAF2 TAF2 ENSG00000064313 Na Na Na Na Na Na Het;T>A 94;7|4 Het;T>A 75;2|3 Hom;T>A 270;0|9 N N - 8 122174205 122174205 C T snp intergenic SNTB1 Sntb1 ENSG00000172164 syntrophin beta 1 chr8:121547985-121825513 Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] Glucose; Diabetes Mellitus; inherited myopathy; Esophagitis; Hypertension; Uric Acid GO:0006936;muscle contraction;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0016010;dystrophin-associated glycoprotein complex;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0030165;PDZ domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNTB1 https://www.ncbi.nlm.nih.gov/omim/?term=600026 http://www.informatics.jax.org/searchtool/Search.do?query=SNTB1&submit=Quick%0D%13094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTB1 rs35517836 0.49361 0 0 1 0 0 intergenic intergenic intergenic SNTB1(dist=349896),HAS2(dist=451066) SNTB1(dist=349896),HAS2(dist=451066) ENSG00000253619(dist=42211),ENSG00000221644(dist=24793) Na Na Na Na Na Na Het;C>T 179;4|6 Het;C>T 263;4|10 Hom;C>T 546;0|16 N N - 8 123305659 123305659 C CGTGT indel intergenic HAS2-AS1 rs10657039 0.532947 0 0 1 0 0 intergenic intergenic intergenic HAS2-AS1(dist=648095),LINC01151(dist=376965) BC052578(dist=166236),ZHX2(dist=488242) ENSG00000254303(dist=166236),ENSG00000255364(dist=120912) Na Na Na Na Na Na Het;+GTGT 41;2|2 Het;+GTGT 158;5|5 Hom;+GTGT 412;0|9 N N - 8 123529267 123529267 G A snp intergenic HAS2-AS1 rs76338975 0.194289 0 0 1 0 0 intergenic intergenic intergenic HAS2-AS1(dist=871703),LINC01151(dist=153357) BC052578(dist=389844),ZHX2(dist=264634) ENSG00000255325(dist=27213),ENSG00000253819(dist=153357) Na Na Na Na Na Na Het;G>A 593;41|28 Het;G>A 683;40|34 Hom;G>A 1483;0|53 N N - 8 12375991 12375991 C T snp ncRNA_intronic LOC100506990 rs1718661 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intergenic LOC100506990 LOC100506990 ENSG00000255549(dist=7204),ENSG00000221714(dist=8256) Na Na Na Na Na Na Het;C>T 1095;5|39 Het;C>T 383;6|16 Hom;C>T 671;1|22 N N - 8 124448547 124448547 G C snp intronic WDYHV1 Wdyhv1 ENSG00000156795 WDYHV motif containing 1 chr8:124428965-124479470 Mice homozygous for a gene trap allele exhibit abnormal behavior. GO:0006464;cellular protein modification process;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0070773;protein-N-terminal glutamine amidohydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDYHV1 https://www.uniprot.org/uniprot/Q96HA8 http://www.informatics.jax.org/searchtool/Search.do?query=WDYHV1&submit=Quick%0D%10017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDYHV1 rs12675771 0.313099 0 0 1 0 0 intronic intronic intronic WDYHV1 WDYHV1 ENSG00000156795 Na Na Na Na Na Na Het;G>C 41;3|2 Het;G>C 76;3|3 Hom;G>C 155;0|5 N N - 8 124796926 124796926 G C snp intronic FAM91A1 Fam91a1 ENSG00000176853 family with sequence similarity 91 member A1 chr8:124780696-124827692 Lipoproteins, LDL; Cognitive performance; Psychomotor Performance Mice homozygous for a transgenic gene disruption exhibit male infertility. http://www.genecards.org/index.php?path=/Search/keyword/FAM91A1 http://www.informatics.jax.org/searchtool/Search.do?query=FAM91A1&submit=Quick%0D%13920ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM91A1 rs17259760 0.058107 0 0 1 0 0 intronic intronic intronic FAM91A1 FAM91A1 ENSG00000176853 Na Na Na Na Na Na Het;G>C 132;1|5 Ref Hom;G>C 291;0|10 N N - 8 12517458 12517458 C A snp ncRNA_intronic LOC729732 rs661270 0.63099 0 0 1 0 0 ncRNA_intronic intronic intergenic LOC729732 LOC729732 ENSG00000255253(dist=21347),ENSG00000254581(dist=16086) Na Na Na Na Na Na Het;C>A 435;2|15 Ref Hom;C>A 176;0|6 N N - 8 125204957 125204957 T TTGTG indel ncRNA_exonic LOC101927588 Na 0 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101927588 AK057332(dist=21194),TMEM65(dist=118202) ENSG00000214803 Na Na Na Na Na Na Het;+TGTG 61;4|3 Ref Hom;+TGTG 243;0|6 N N - 8 12523442 12523442 T G snp upstream LOC729732 rs2904991 0 0 0 1 0 0 upstream upstream intergenic LOC729732 LOC729732 ENSG00000255253(dist=27331),ENSG00000254581(dist=10102) Na Na Na Na Na Na Het;T>G 1251;15|52 Het;T>G 631;23|29 Hom;T>G 639;0|25 N N - 8 12523512 12523512 C A snp upstream LOC729732 rs2946694 0.859026 0 0 1 0 0 upstream upstream intergenic LOC729732 LOC729732 ENSG00000255253(dist=27401),ENSG00000254581(dist=10032) Na Na Na Na Na Na Het;C>A 572;9|21 Het;C>A 227;15|11 Hom;C>A 403;0|15 N N - 8 125463098 125463098 A T snp UTR5 -71A>T TRMT12 Trmt12 ENSG00000183665 tRNA methyltransferase 12 homolog chr8:125463048-125474391 Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] Synthesis of wybutosine at G37 of tRNA(Phe) GO:0008033;tRNA processing;IEA GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0102522;tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRMT12 https://www.ncbi.nlm.nih.gov/omim/?term=611244 http://www.informatics.jax.org/searchtool/Search.do?query=TRMT12&submit=Quick%0D%15040ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT12 rs3812474 0.570687 0 0 1 0 0 UTR5 UTR5 UTR5 TRMT12(NM_017956:c.-71A>T) TRMT12(uc003yra.4:c.-71A>T) ENSG00000183665(ENST00000328599:c.-71A>T) Na Na Na Na Na Na Het;A>T 604;21|22 Het;A>T 110;17|8 Hom;A>T 524;0|16 N N - 8 125463250 125463250 T C snp nonsynonymous SNV T82C W28R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) TRMT12 Trmt12 ENSG00000183665 tRNA methyltransferase 12 homolog chr8:125463048-125474391 Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] Synthesis of wybutosine at G37 of tRNA(Phe) GO:0008033;tRNA processing;IEA GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0102522;tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRMT12 https://www.ncbi.nlm.nih.gov/omim/?term=611244 http://www.informatics.jax.org/searchtool/Search.do?query=TRMT12&submit=Quick%0D%15040ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT12 rs3812475 0.571086 0.5474 0.5124 0.23 3 13 exonic exonic exonic TRMT12 TRMT12 ENSG00000183665 nonsynonymous SNV nonsynonymous SNV unknown TRMT12:NM_017956:exon1:c.T82C:p.W28R, TRMT12:uc003yra.4:exon1:c.T82C:p.W28R, UNKNOWN Het;T>C 1532;66|65 Het;T>C 1325;55|56 Hom;T>C 3260;2|118 N N - 8 125476498 125476498 T TAGAC indel ncRNA_exonic RNF139-AS1 rs35557139 0.563898 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;+AGAC 3422;93|91 Het;+AGAC 3345;102|88 Hom;+AGAC 7882;2|179 N N - 8 125477061 125477061 C CA indel ncRNA_exonic RNF139-AS1 rs5894707 0.270567 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;+A 2099;112|69 Het;+A 1543;74|51 Hom;+A 3957;0|93 N N - 8 125477797 125477797 G T snp ncRNA_exonic RNF139-AS1 rs10105517 0.846845 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;G>T 2232;64|95 Het;G>T 1638;90|78 Hom;G>T 4520;1|168 N N - 8 125478370 125478370 C T snp ncRNA_exonic RNF139-AS1 rs7826104 0.270168 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;C>T 313;6|10 Het;C>T 137;5|5 Hom;C>T 241;0|7 N N - 8 125478868 125478868 G T snp ncRNA_exonic RNF139-AS1 rs7830506 0.56889 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;G>T 2040;133|93 Het;G>T 1907;106|89 Hom;G>T 4362;4|158 N N - 8 125479475 125479475 G A snp ncRNA_exonic RNF139-AS1 rs4128469 0.270168 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;G>A 702;26|27 Het;G>A 600;9|24 Hom;G>A 1583;0|52 N N - 8 125479663 125479663 G A snp ncRNA_exonic RNF139-AS1 rs4128468 0.45028 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;G>A 1544;59|61 Het;G>A 1381;67|59 Hom;G>A 3777;0|133 N N - 8 125486767 125486767 A G snp ncRNA_exonic RNF139-AS1 rs3812472 0.568291 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic RNF139-AS1 CR933665 ENSG00000245149 Na Na Na Na Na Na Het;A>G 2419;98|102 Het;A>G 1653;113|82 Hom;A>G 4920;0|181 N N - 8 125498547 125498547 C T snp synonymous SNV C657T Y219Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic RNF139 Rnf139 ENSG00000170881 ring finger protein 139 chr8:125486979-125500155 The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008] RENAL CELL CARCINOMA NONPAPILLARY Mice homozygous for a knock-out allele exhibit increased diet-induced liver apoptosis, inflammation and fibrosis. ER Quality Control Compartment (ERQC) GO:0000209;protein polyubiquitination;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016567;protein ubiquitination;IDA|GO:0017148;negative regulation of translation;IDA|GO:0030433;ubiquitin-dependent ERAD pathway;IEA|GO:0031396;regulation of protein ubiquitination;IDA|GO:0031648;protein destabilization;IMP|GO:0036503;ERAD pathway;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0060628;regulation of ER to Golgi vesicle-mediated transport;IDA|GO:0070613;regulation of protein processing;IDA|GO:1904380;endoplasmic reticulum mannose trimming;TAS|GO:2000060;positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0044322;endoplasmic reticulum quality control compartment;IEA GO:0002020;protease binding;IPI|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;TAS|GO:0019787;ubiquitin-like protein transferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;TAS http://www.genecards.org/index.php?path=/Search/keyword/RNF139 https://hpo.jax.org/app/browse/search?q=RNF139&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603046 http://www.informatics.jax.org/searchtool/Search.do?query=RNF139&submit=Quick%0D%12795ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF139 rs3812471 0.570887 0.5454 0.5071 1 0 0 exonic exonic exonic RNF139 RNF139 ENSG00000170881 synonymous SNV synonymous SNV unknown RNF139:NM_007218:exon2:c.C657T:p.Y219Y, RNF139:uc003yrc.3:exon2:c.C657T:p.Y219Y, UNKNOWN Het;C>T 3667;136|153 Het;C>T 3256;161|145 Hom;C>T 9211;2|342 N N - 8 125570800 125570800 C T snp intronic MTSS1 Mtss1 ENSG00000170873 MTSS1, I-BAR domain containing chr8:125563031-125740730 Cholesterol; Echocardiography; Waist-Hip Ratio; prostate cancer; Leukocyte Count; Lipids; Tobacco Use Disorder; Alcoholism Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. GO:0006928;movement of cell or subcellular component;NAS|GO:0007009;plasma membrane organization;IEA|GO:0007155;cell adhesion;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0030035;microspike assembly;NAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0050680;negative regulation of epithelial cell proliferation;ISS|GO:0061333;renal tubule morphogenesis;ISS|GO:0071498;cellular response to fluid shear stress;ISS|GO:0072102;glomerulus morphogenesis;ISS|GO:0072160;nephron tubule epithelial cell differentiation;ISS|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;ISS GO:0001726;ruffle;NAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030139;endocytic vesicle;TAS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MTSS1 https://www.ncbi.nlm.nih.gov/omim/?term=608486 http://www.informatics.jax.org/searchtool/Search.do?query=MTSS1&submit=Quick%0D%12793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTSS1 rs7846270 0.307708 0 0 1 0 0 intronic intronic intronic MTSS1 MTSS1,NDUFB9 ENSG00000147684,ENSG00000170873 Na Na Na Na Na Na Het;C>T 36;4|2 Het;C>T 70;6|3 Hom;C>T 125;0|4 N N - 8 125574913 125574913 G C snp intronic MTSS1 Mtss1 ENSG00000170873 MTSS1, I-BAR domain containing chr8:125563031-125740730 Cholesterol; Echocardiography; Waist-Hip Ratio; prostate cancer; Leukocyte Count; Lipids; Tobacco Use Disorder; Alcoholism Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. GO:0006928;movement of cell or subcellular component;NAS|GO:0007009;plasma membrane organization;IEA|GO:0007155;cell adhesion;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0030035;microspike assembly;NAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0050680;negative regulation of epithelial cell proliferation;ISS|GO:0061333;renal tubule morphogenesis;ISS|GO:0071498;cellular response to fluid shear stress;ISS|GO:0072102;glomerulus morphogenesis;ISS|GO:0072160;nephron tubule epithelial cell differentiation;ISS|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;ISS GO:0001726;ruffle;NAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030139;endocytic vesicle;TAS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MTSS1 https://www.ncbi.nlm.nih.gov/omim/?term=608486 http://www.informatics.jax.org/searchtool/Search.do?query=MTSS1&submit=Quick%0D%12793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTSS1 rs7015228 0.328474 0 0 1 0 0 intronic intronic intronic MTSS1 MTSS1,NDUFB9 ENSG00000147684,ENSG00000170873 Na Na Na Na Na Na Het;G>C 323;10|11 Het;G>C 106;5|4 Hom;G>C 362;0|10 N N - 8 125574925 125574925 G C snp intronic MTSS1 Mtss1 ENSG00000170873 MTSS1, I-BAR domain containing chr8:125563031-125740730 Cholesterol; Echocardiography; Waist-Hip Ratio; prostate cancer; Leukocyte Count; Lipids; Tobacco Use Disorder; Alcoholism Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. GO:0006928;movement of cell or subcellular component;NAS|GO:0007009;plasma membrane organization;IEA|GO:0007155;cell adhesion;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0030035;microspike assembly;NAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0050680;negative regulation of epithelial cell proliferation;ISS|GO:0061333;renal tubule morphogenesis;ISS|GO:0071498;cellular response to fluid shear stress;ISS|GO:0072102;glomerulus morphogenesis;ISS|GO:0072160;nephron tubule epithelial cell differentiation;ISS|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;ISS GO:0001726;ruffle;NAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030139;endocytic vesicle;TAS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MTSS1 https://www.ncbi.nlm.nih.gov/omim/?term=608486 http://www.informatics.jax.org/searchtool/Search.do?query=MTSS1&submit=Quick%0D%12793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTSS1 rs7015374 0.253195 0 0 1 0 0 intronic intronic intronic MTSS1 MTSS1,NDUFB9 ENSG00000147684,ENSG00000170873 Na Na Na Na Na Na Het;G>C 353;15|12 Het;G>C 143;7|5 Hom;G>C 521;0|13 N N - 8 125575323 125575323 T C snp intronic MTSS1 Mtss1 ENSG00000170873 MTSS1, I-BAR domain containing chr8:125563031-125740730 Cholesterol; Echocardiography; Waist-Hip Ratio; prostate cancer; Leukocyte Count; Lipids; Tobacco Use Disorder; Alcoholism Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. GO:0006928;movement of cell or subcellular component;NAS|GO:0007009;plasma membrane organization;IEA|GO:0007155;cell adhesion;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0030035;microspike assembly;NAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0050680;negative regulation of epithelial cell proliferation;ISS|GO:0061333;renal tubule morphogenesis;ISS|GO:0071498;cellular response to fluid shear stress;ISS|GO:0072102;glomerulus morphogenesis;ISS|GO:0072160;nephron tubule epithelial cell differentiation;ISS|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;ISS GO:0001726;ruffle;NAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030139;endocytic vesicle;TAS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MTSS1 https://www.ncbi.nlm.nih.gov/omim/?term=608486 http://www.informatics.jax.org/searchtool/Search.do?query=MTSS1&submit=Quick%0D%12793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTSS1 rs2303955 0.328674 0 0 1 0 0 intronic intronic intronic MTSS1 MTSS1,NDUFB9 ENSG00000147684,ENSG00000170873 Na Na Na Na Na Na Het;T>C 730;24|31 Het;T>C 616;26|25 Hom;T>C 1570;0|51 N N - 8 125601780 125601780 C T snp intronic MTSS1 Mtss1 ENSG00000170873 MTSS1, I-BAR domain containing chr8:125563031-125740730 Cholesterol; Echocardiography; Waist-Hip Ratio; prostate cancer; Leukocyte Count; Lipids; Tobacco Use Disorder; Alcoholism Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. GO:0006928;movement of cell or subcellular component;NAS|GO:0007009;plasma membrane organization;IEA|GO:0007155;cell adhesion;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0030035;microspike assembly;NAS|GO:0030036;actin cytoskeleton organization;TAS|GO:0050680;negative regulation of epithelial cell proliferation;ISS|GO:0061333;renal tubule morphogenesis;ISS|GO:0071498;cellular response to fluid shear stress;ISS|GO:0072102;glomerulus morphogenesis;ISS|GO:0072160;nephron tubule epithelial cell differentiation;ISS|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;ISS GO:0001726;ruffle;NAS|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030139;endocytic vesicle;TAS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MTSS1 https://www.ncbi.nlm.nih.gov/omim/?term=608486 http://www.informatics.jax.org/searchtool/Search.do?query=MTSS1&submit=Quick%0D%12793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTSS1 rs12682032 0.436502 0 0 1 0 0 intronic intronic intronic MTSS1 MTSS1 ENSG00000170873 Na Na Na Na Na Na Het;C>T 138;3|6 Het;C>T 48;8|3 Hom;C>T 251;0|9 N N - 8 126369898 126369898 G C snp intronic NSMCE2 Nsmce2 ENSG00000156831 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase chr8:126103921-126379362 Stroke; Lipoproteins, LDL; prostate cancer; Behcet Syndrome; Tobacco Use Disorder Mice homozygous for a null allele display early embryonic lethality. Heterozygous null mice display reduced lifespans with increased tumor formation. Homozygous and heterozygous null mice display impaired mitotic segregation and elevated mitotic recombination. SUMOylation of DNA damage response and repair proteins GO:0000722;telomere maintenance via recombination;IMP|GO:0000724;double-strand break repair via homologous recombination;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0016925;protein sumoylation;IEA|GO:0034184;positive regulation of maintenance of mitotic sister chromatid cohesion;IMP|GO:0045842;positive regulation of mitotic metaphase/anaphase transition;IMP|GO:0051301;cell division;IEA|GO:0090398;cellular senescence;IMP GO:0000781;chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030915;Smc5-Smc6 complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016874;ligase activity;IEA|GO:0019789;SUMO transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NSMCE2 https://www.uniprot.org/uniprot/Q96MF7 https://hpo.jax.org/app/browse/search?q=NSMCE2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617246 http://www.informatics.jax.org/searchtool/Search.do?query=NSMCE2&submit=Quick%0D%10020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NSMCE2 rs2293890 0.397364 0 0 1 0 0 intronic intronic intronic NSMCE2 NSMCE2 ENSG00000156831 Na Na Na Na Na Na Het;G>C 571;8|22 Het;G>C 699;12|26 Hom;G>C 925;0|31 N N - 8 127263198 127263198 G A snp intergenic LINC00861 rs4870965 0.202875 0 0 1 0 0 intergenic intergenic intergenic LINC00861(dist=299757),LOC101927657(dist=74542) LINC00861(dist=299757),FAM84B(dist=301485) ENSG00000248720(dist=75940),ENSG00000244791(dist=74542) Na Na Na Na Na Na Het;G>A 100;5|4 Het;G>A 79;1|3 Hom;G>A 167;0|5 N N - 8 127263368 127263368 T C snp intergenic LINC00861 rs4871680 0.580871 0 0 1 0 0 intergenic intergenic intergenic LINC00861(dist=299927),LOC101927657(dist=74372) LINC00861(dist=299927),FAM84B(dist=301315) ENSG00000248720(dist=76110),ENSG00000244791(dist=74372) Na Na Na Na Na Na Het;T>C 1266;44|57 Het;T>C 980;58|49 Hom;T>C 3080;0|118 N N - 8 128351442 128351442 A C snp ncRNA_intronic DQ515898 rs56898669 0.464856 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CASC21,CASC8 DQ515898,DQ515899,LOC727677 ENSG00000246228 Na Na Na Na Na Na Het;A>C 144;3|5 Het;A>C 225;12|9 Hom;A>C 667;0|21 N N - 8 128351524 128351524 A AG indel ncRNA_exonic CASC21 rs397763627 0.464657 0 0 1 0 0 ncRNA_splicing ncRNA_intronic ncRNA_exonic CASC21(NR_117099:exon3:c.303-2A>AG) DQ515898,DQ515899,LOC727677 ENSG00000253929 Na Na Na Na Na Na Het;+G 1094;24|35 Het;+G 1612;46|52 Hom;+G 4380;2|117 N N - 8 128351773 128351773 G A snp ncRNA_intronic DQ515898 rs10956363 0.463458 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic CASC21,CASC8 DQ515898,DQ515899,LOC727677 ENSG00000246228,ENSG00000253929 Na Na Na Na Na Na Het;G>A 398;21|18 Het;G>A 521;27|21 Hom;G>A 1088;0|38 N N - 8 128413305 128413305 G T snp ncRNA_exonic CCAT2 rs6983267 0.390176 0 0 1 0 0 ncRNA_exonic ncRNA_intronic ncRNA_intronic CCAT2 DQ515898,DQ515899,LOC727677 ENSG00000246228 Na Na Na Na Na Na Het;G>T 1077;56|50 Het;G>T 1116;54|51 Hom;G>T 3583;0|129 N N - 8 129021179 129021179 G A snp ncRNA_exonic MIR1206 rs2114358 0.671526 0.6351 0.6254 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_intronic MIR1206 MIR1206 ENSG00000249859 Na Na Na Na Na Na Het;G>A 344;16|18 Het;G>A 451;43|26 Hom;G>A 1555;0|57 N N - 8 129312498 129312498 T C snp intergenic MIR1208 rs1033352 0.170727 0 0 1 0 0 intergenic intergenic intergenic MIR1208(dist=150064),LINC00824(dist=105018) MIR1208(dist=150064),BC009730(dist=105018) ENSG00000201782(dist=79449),ENSG00000254275(dist=105017) Na Na Na Na Na Na Het;T>C 515;29|15 Het;T>C 619;33|17 Hom;T>C 1614;0|46 N N - 8 130692301 130692301 C T snp ncRNA_exonic CCDC26 rs72716390 0.171725 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic CCDC26 CCDC26(dist=327073),GSDMC(dist=68141) ENSG00000229140 Na Na Na Na Na Na Het;C>T 860;40|42 Het;C>T 1013;59|44 Hom;C>T 2003;2|74 N N - 8 130848477 130848477 G A snp ncRNA_intronic AC022973.4 rs60188612 0.183307 0 0 1 0 0 intergenic intergenic ncRNA_intronic GSDMC(dist=49343),FAM49B(dist=3362) GSDMC(dist=49343),FAM49B(dist=3362) ENSG00000254317 Na Na Na Na Na Na Het;G>A 96;2|6 Ref Hom;G>A 150;0|6 N N - 8 130853447 130853447 C T snp UTR3 *941G>A FAM49B Fam49b ENSG00000153310 family with sequence similarity 49 member B chr8:130851839-131029375 Glucose; protein quantitative trait loci Platelet degranulation GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002576;platelet degranulation;TAS|GO:0032729;positive regulation of interferon-gamma production;ISS|GO:0050870;positive regulation of T cell activation;ISS|GO:2000568;positive regulation of memory T cell activation;ISS GO:0005576;extracellular region;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0023030;MHC class Ib protein binding, via antigen binding groove;ISS http://www.genecards.org/index.php?path=/Search/keyword/FAM49B https://www.uniprot.org/uniprot/Q9NUQ9 http://www.informatics.jax.org/searchtool/Search.do?query=FAM49B&submit=Quick%0D%9656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM49B rs837065 0.427316 0 0 1 0 0 UTR3 UTR3 ncRNA_intronic FAM49B(NM_016623:c.*941G>A,NM_001256763:c.*941G>A) FAM49B(uc003yss.4:c.*941G>A,uc003yst.4:c.*941G>A,uc003ysu.4:c.*941G>A,uc003ysy.2:c.*941G>A,uc003ysw.4:c.*941G>A,uc003ysx.4:c.*941G>A) ENSG00000254317 Na Na Na Na Na Na Het;C>T 1197;63|57 Het;C>T 985;78|47 Hom;C>T 2718;0|95 N N - 8 130868061 130868061 G T snp intronic FAM49B Fam49b ENSG00000153310 family with sequence similarity 49 member B chr8:130851839-131029375 Glucose; protein quantitative trait loci Platelet degranulation GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002576;platelet degranulation;TAS|GO:0032729;positive regulation of interferon-gamma production;ISS|GO:0050870;positive regulation of T cell activation;ISS|GO:2000568;positive regulation of memory T cell activation;ISS GO:0005576;extracellular region;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0023030;MHC class Ib protein binding, via antigen binding groove;ISS http://www.genecards.org/index.php?path=/Search/keyword/FAM49B https://www.uniprot.org/uniprot/Q9NUQ9 http://www.informatics.jax.org/searchtool/Search.do?query=FAM49B&submit=Quick%0D%9656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM49B rs2306528 0.287141 0 0 1 0 0 intronic intronic intronic FAM49B FAM49B ENSG00000153310 Na Na Na Na Na Na Het;G>T 170;7|7 Ref Hom;G>T 93;0|4 N N - 8 130874674 130874674 A C snp intronic FAM49B Fam49b ENSG00000153310 family with sequence similarity 49 member B chr8:130851839-131029375 Glucose; protein quantitative trait loci Platelet degranulation GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002576;platelet degranulation;TAS|GO:0032729;positive regulation of interferon-gamma production;ISS|GO:0050870;positive regulation of T cell activation;ISS|GO:2000568;positive regulation of memory T cell activation;ISS GO:0005576;extracellular region;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0023030;MHC class Ib protein binding, via antigen binding groove;ISS http://www.genecards.org/index.php?path=/Search/keyword/FAM49B https://www.uniprot.org/uniprot/Q9NUQ9 http://www.informatics.jax.org/searchtool/Search.do?query=FAM49B&submit=Quick%0D%9656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM49B rs298611 0.594249 0 0 1 0 0 intronic intronic intronic FAM49B FAM49B ENSG00000153310 Na Na Na Na Na Na Het;A>C 297;6|9 Het;A>C 106;7|4 Hom;A>C 481;0|14 N N - 8 130908847 130908848 GC G indel ncRNA_intronic AC022973.3 rs33980983 0.79353 0 0 1 0 0 intronic intronic ncRNA_intronic FAM49B FAM49B ENSG00000254263 Na Na Na Na Na Na Het;-C 164;6|6 Het;-C 88;4|4 Hom;-C 397;0|11 N N - 8 131020729 131020729 T C snp upstream MIR5194 rs4733757 0.627796 0 0.7333 1 0 0 upstream intronic intronic MIR5194 FAM49B ENSG00000153310 Na Na Na Na Na Na Het;T>C 1075;64|51 Het;T>C 958;38|44 Hom;T>C 2971;0|111 N N - 8 131124559 131124559 T C snp nonsynonymous SNV A2182G I728V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs966185 0.474441 0.3987 0.4759 0.08 1 13 exonic exonic exonic ASAP1 ASAP1 ENSG00000153317 nonsynonymous SNV nonsynonymous SNV unknown ASAP1:NM_018482:exon24:c.A2182G:p.I728V,ASAP1:NM_001247996:exon25:c.A2161G:p.I721V, ASAP1:uc003yta.2:exon24:c.A2182G:p.I728V,ASAP1:uc011liw.2:exon25:c.A2161G:p.I721V,ASAP1:uc003ysz.2:exon18:c.A1615G:p.I539V, UNKNOWN Het;T>C 2012;72|83 Het;T>C 1548;74|67 Hom;T>C 3864;0|134 N N - 8 131127831 131127831 T C snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs2305513 0.447684 0.3814 0.4543 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;T>C 368;19|14 Het;T>C 761;19|28 Hom;T>C 853;0|30 N N - 8 131130594 131130594 C T snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs10956511 0.419529 0 0 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;C>T 228;10|8 Het;C>T 214;7|9 Hom;C>T 172;0|6 N N - 8 131138344 131138344 A C snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs2305510 0.130192 0.0863 0.1284 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;A>C 707;39|31 Het;A>C 583;34|26 Hom;A>C 1300;0|47 N N - 8 131149414 131149414 G C snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs79205769 0.141174 0 0 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;G>C 246;3|7 Het;G>C 161;4|5 Hom;G>C 268;0|7 N N - 8 131165086 131165086 A T snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs3935174 0.435503 0.3300 0.3787 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;A>T 377;9|17 Het;A>T 174;17|11 Hom;A>T 625;0|25 N N - 8 131192905 131192905 G C snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs28495072 0.735623 0 0 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;G>C 125;14|6 Het;G>C 350;6|14 Hom;G>C 302;0|9 N N - 8 131226652 131226652 G A snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs1469288 0.386781 0 0 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;G>A 165;6|6 Ref Hom;G>A 59;0|3 N N - 8 131226752 131226752 A G snp intronic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs2303444 0.13778 0.0927 0.1255 1 0 0 intronic intronic intronic ASAP1 ASAP1 ENSG00000153317 Na Na Na Na Na Na Het;A>G 696;30|28 Het;A>G 520;20|20 Hom;A>G 927;0|31 N N - 8 131513959 131513959 T C snp intergenic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs13257644 0.380591 0 0 1 0 0 intergenic intergenic intergenic ASAP1(dist=58053),ADCY8(dist=278588) ASAP1(dist=58053),ADCY8(dist=278588) ENSG00000153317(dist=58053),ENSG00000253656(dist=93586) Na Na Na Na Na Na Het;T>C 352;19|16 Ref Hom;T>C 666;0|26 N N - 8 131514057 131514057 T C snp intergenic ASAP1 Asap1 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 chr8:131064353-131455906 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus; multiple sclerosis; Glomerular Filtration Rate; Multiple Sclerosis; Creatinine Homozygotes for a gene trapped allele show perinatal lethality, reduced respiratory rate, fetal growth retardation, slow weight gain, delayed bone ossification, reduced adipogenesis and altered in vitro differentiation of mesenchymal progenitor cells into chondrocytes, adipocytes and osteoblasts. VxPx cargo-targeting to cilium GO:0030030;cell projection organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0060271;cilium assembly;IMP|GO:0061000;negative regulation of dendritic spine development;IEA|GO:0071803;positive regulation of podosome assembly;IEA|GO:1903527;positive regulation of membrane tubulation;IEA GO:0002102;podosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031253;cell projection membrane;IEA|GO:0043197;dendritic spine;IEA GO:0001786;phosphatidylserine binding;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IEA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASAP1 https://www.uniprot.org/uniprot/Q9ULH1 https://www.ncbi.nlm.nih.gov/omim/?term=605953 http://www.informatics.jax.org/searchtool/Search.do?query=ASAP1&submit=Quick%0D%9657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASAP1 rs35046899 0.380591 0 0 1 0 0 intergenic intergenic intergenic ASAP1(dist=58151),ADCY8(dist=278490) ASAP1(dist=58151),ADCY8(dist=278490) ENSG00000153317(dist=58151),ENSG00000253656(dist=93488) Na Na Na Na Na Na Het;T>C 306;11|12 Het;T>C 79;8|6 Hom;T>C 519;0|17 N N - 8 132958609 132958609 A T snp intronic EFR3A Efr3a ENSG00000132294 EFR3 homolog A chr8:132916335-133025889 The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016] Hemoglobins Mice homozygous for a conditional allele activated in the nervous system exhibit decreased neuron apoptosis in the dentate gyrus resulting in increased adult hippocampal neurogenesis. GO:0046854;phosphatidylinositol phosphorylation;TAS|GO:0090002;establishment of protein localization to plasma membrane;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/EFR3A https://www.uniprot.org/uniprot/Q14156 https://www.ncbi.nlm.nih.gov/omim/?term=611798 http://www.informatics.jax.org/searchtool/Search.do?query=EFR3A&submit=Quick%0D%6644ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFR3A rs9297837 0.393371 0 0 1 0 0 intronic intronic intronic EFR3A EFR3A ENSG00000132294 Na Na Na Na Na Na Het;A>T 136;6|5 Het;A>T 147;3|5 Hom;A>T 333;0|10 N N - 8 132998635 132998644 GTCATTTAAT G indel intronic EFR3A Efr3a ENSG00000132294 EFR3 homolog A chr8:132916335-133025889 The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016] Hemoglobins Mice homozygous for a conditional allele activated in the nervous system exhibit decreased neuron apoptosis in the dentate gyrus resulting in increased adult hippocampal neurogenesis. GO:0046854;phosphatidylinositol phosphorylation;TAS|GO:0090002;establishment of protein localization to plasma membrane;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/EFR3A https://www.uniprot.org/uniprot/Q14156 https://www.ncbi.nlm.nih.gov/omim/?term=611798 http://www.informatics.jax.org/searchtool/Search.do?query=EFR3A&submit=Quick%0D%6644ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFR3A rs141130288 0.310104 0 0 1 0 0 intronic intronic intronic EFR3A EFR3A ENSG00000132294 Na Na Na Na Na Na Het;-TCATTTAAT 152;7|5 Het;-TCATTTAAT 407;6|11 Hom;-TCATTTAAT 680;0|16 N N - 8 133089975 133089975 A G snp nonsynonymous SNV T740C L247S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral HHLA1 Hhla1 ENSG00000132297 HERV-H LTR-associating 1 chr8:133073733-133123406 Taste GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/HHLA1 https://www.uniprot.org/uniprot/C9JL84 https://www.ncbi.nlm.nih.gov/omim/?term=604109 http://www.informatics.jax.org/searchtool/Search.do?query=HHLA1&submit=Quick%0D%6645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HHLA1 rs2280851 0.745407 0.7604 0.7642 0.17 2 12 exonic exonic exonic HHLA1 HHLA1 ENSG00000132297,ENSG00000258417 nonsynonymous SNV nonsynonymous SNV unknown HHLA1:NM_001145095:exon11:c.T1169C:p.L390S, HHLA1:uc003yth.2:exon2:c.T740C:p.L247S,HHLA1:uc011liy.1:exon11:c.T1169C:p.L390S, UNKNOWN Het;A>G 435;20|22 Het;A>G 211;19|10 Hom;A>G 727;0|25 N N - 8 133136762 133136762 C CCTGT indel UTR3 *4747G>ACAGG KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs112550767 0.286342 0 0 1 0 0 UTR3 UTR3 UTR3 KCNQ3(NM_004519:c.*4747G>ACAGG,NM_001204824:c.*4747G>ACAGG) KCNQ3(uc003yti.3:c.*4747G>ACAGG,uc003ytj.3:c.*4747G>ACAGG,uc010mdt.3:c.*4747G>ACAGG) ENSG00000184156(ENST00000388996:c.*4747G>ACAGG) Na Na Na Na Na Na Het;+CTGT 1121;34|31 Het;+CTGT 1994;37|52 Hom;+CTGT 4064;2|95 N N - 8 133137266 133137266 T A snp UTR3 *4243A>T KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs2436131 0.286342 0 0 1 0 0 UTR3 UTR3 UTR3 KCNQ3(NM_004519:c.*4243A>T,NM_001204824:c.*4243A>T) KCNQ3(uc003yti.3:c.*4243A>T,uc003ytj.3:c.*4243A>T,uc010mdt.3:c.*4243A>T) ENSG00000184156(ENST00000388996:c.*4243A>T) Na Na Na Na Na Na Het;T>A 489;17|19 Het;T>A 168;20|9 Hom;T>A 874;2|34 N N - 8 133137532 133137532 C T snp UTR3 *3977G>A KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs2469628 0.310903 0 0 1 0 0 UTR3 UTR3 UTR3 KCNQ3(NM_004519:c.*3977G>A,NM_001204824:c.*3977G>A) KCNQ3(uc003yti.3:c.*3977G>A,uc003ytj.3:c.*3977G>A,uc010mdt.3:c.*3977G>A) ENSG00000184156(ENST00000388996:c.*3977G>A) Na Na Na Na Na Na Het;C>T 751;39|33 Het;C>T 1454;51|65 Hom;C>T 2480;0|89 N N - 8 133138477 133138477 T C snp UTR3 *3032A>G KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs2469626 0.293131 0 0 1 0 0 UTR3 UTR3 UTR3 KCNQ3(NM_004519:c.*3032A>G,NM_001204824:c.*3032A>G) KCNQ3(uc003yti.3:c.*3032A>G,uc003ytj.3:c.*3032A>G,uc010mdt.3:c.*3032A>G) ENSG00000184156(ENST00000388996:c.*3032A>G) Na Na Na Na Na Na Het;T>C 278;24|9 Het;T>C 939;38|26 Hom;T>C 2071;0|59 N N - 8 133139755 133139755 G A snp UTR3 *1754C>T KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs977939 0.26857 0 0 1 0 0 UTR3 UTR3 UTR3 KCNQ3(NM_004519:c.*1754C>T,NM_001204824:c.*1754C>T) KCNQ3(uc003yti.3:c.*1754C>T,uc003ytj.3:c.*1754C>T,uc010mdt.3:c.*1754C>T) ENSG00000184156(ENST00000388996:c.*1754C>T) Na Na Na Na Na Na Het;G>A 380;19|17 Het;G>A 251;19|10 Hom;G>A 1526;0|54 N N - 8 133142310 133142310 G C snp intronic KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs2469625 0.290935 0 0 1 0 0 intronic intronic intronic KCNQ3 KCNQ3 ENSG00000184156 Na Na Na Na Na Na Het;G>C 493;18|15 Het;G>C 465;14|14 Hom;G>C 903;0|23 N N - 8 133142353 133142353 G A snp intronic KCNQ3 Kcnq3 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 chr8:133133108-133493200 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] epilepsy; Heart Failure; juvenile myoclonic epilepsy; Stroke; Tobacco Use Disorder; C-Reactive Protein; Type 2 Diabetes| edema | rosiglitazone; Migraine without Aura; Erythrocyte Count; Body Height; Hemoglobins Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. Interaction between L1 and Ankyrins GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060081;membrane hyperpolarization;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033268;node of Ranvier;ISS|GO:0043194;axon initial segment;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNQ3 https://hpo.jax.org/app/browse/search?q=KCNQ3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602232 http://www.informatics.jax.org/searchtool/Search.do?query=KCNQ3&submit=Quick%0D%15142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNQ3 rs2436132 0.216653 0 0 1 0 0 intronic intronic intronic KCNQ3 KCNQ3 ENSG00000184156 Na Na Na Na Na Na Het;G>A 86;3|3 Het;G>A 212;3|6 Hom;G>A 422;0|9 N N - 8 133995459 133995459 G A snp intronic TG Tg ENSG00000042832 thyroglobulin chr8:133879203-134147147 Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009] Hypothyroidism|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Graves Disease|Thyroiditis, Autoimmune; Graves' disease; Graves disease; Celiac Disease|; Graves Disease; Thyroid Diseases; Graves' disease; thyroiditis, chronic lymphocytic; thyroid cancer; Graves Disease|Hashimoto Disease; congenital goiter and defective TG synthesis.; Tobacco Use Disorder; thyroiditis, chronic lymphocytic; autoimmune thyroid disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hashimoto Disease; Autoimmune thyroiditis|Thyroiditis, Autoimmune; Tunica Media Mice homozygous for a spontaneous mutation exhibit enlarged and abnormal thyroid gland, hypothyroidism, and decreased body weight with altered lymphotcyte numbers. GO:0007165;signal transduction;NAS|GO:0015705;iodide transport;IEA|GO:0030878;thyroid gland development;IEP|GO:0031641;regulation of myelination;IEA|GO:0042403;thyroid hormone metabolic process;IEA|GO:0042446;hormone biosynthetic process;IEA GO:0005576;extracellular region;IEA GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TG https://www.uniprot.org/uniprot/P01266 https://hpo.jax.org/app/browse/search?q=TG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=188450 http://www.informatics.jax.org/searchtool/Search.do?query=TG&submit=Quick%0D%840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TG rs13263087 0.121006 0 0 1 0 0 intronic intronic intronic TG TG ENSG00000042832 Na Na Na Na Na Na Het;G>A 380;11|13 Het;G>A 310;14|14 Hom;G>A 529;0|18 N N - 8 134107136 134107136 T G snp intronic SLA Sla ENSG00000155926 Src like adaptor chr8:134048973-134115298 Blood Viscosity; Celiac Disease|; Tobacco Use Disorder Homozygous inactivation in this locus affects T cell development. GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLA https://www.uniprot.org/uniprot/Q13239 https://www.ncbi.nlm.nih.gov/omim/?term=601099 http://www.informatics.jax.org/searchtool/Search.do?query=SLA&submit=Quick%0D%9917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLA rs2256476 0.651558 0 0 1 0 0 intronic intronic intronic SLA,TG SLA,TG ENSG00000042832,ENSG00000155926 Na Na Na Na Na Na Het;T>G 244;3|7 Het;T>G 86;5|4 Hom;T>G 105;0|4 N N - 8 134107223 134107223 A G snp intronic SLA Sla ENSG00000155926 Src like adaptor chr8:134048973-134115298 Blood Viscosity; Celiac Disease|; Tobacco Use Disorder Homozygous inactivation in this locus affects T cell development. GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLA https://www.uniprot.org/uniprot/Q13239 https://www.ncbi.nlm.nih.gov/omim/?term=601099 http://www.informatics.jax.org/searchtool/Search.do?query=SLA&submit=Quick%0D%9917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLA rs2272706 0.644369 0 0 1 0 0 intronic intronic intronic SLA,TG SLA,TG ENSG00000042832,ENSG00000155926 Na Na Na Na Na Na Het;A>G 615;13|23 Het;A>G 279;25|11 Hom;A>G 884;0|26 N N - 8 134108546 134108546 T C snp nonsynonymous SNV T1900C W634R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) TG Tg ENSG00000042832 thyroglobulin chr8:133879203-134147147 Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009] Hypothyroidism|POF - Premature ovarian failure|Primary Ovarian Insufficiency; Graves Disease|Thyroiditis, Autoimmune; Graves' disease; Graves disease; Celiac Disease|; Graves Disease; Thyroid Diseases; Graves' disease; thyroiditis, chronic lymphocytic; thyroid cancer; Graves Disease|Hashimoto Disease; congenital goiter and defective TG synthesis.; Tobacco Use Disorder; thyroiditis, chronic lymphocytic; autoimmune thyroid disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Hashimoto Disease; Autoimmune thyroiditis|Thyroiditis, Autoimmune; Tunica Media Mice homozygous for a spontaneous mutation exhibit enlarged and abnormal thyroid gland, hypothyroidism, and decreased body weight with altered lymphotcyte numbers. GO:0007165;signal transduction;NAS|GO:0015705;iodide transport;IEA|GO:0030878;thyroid gland development;IEP|GO:0031641;regulation of myelination;IEA|GO:0042403;thyroid hormone metabolic process;IEA|GO:0042446;hormone biosynthetic process;IEA GO:0005576;extracellular region;IEA GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TG https://www.uniprot.org/uniprot/P01266 https://hpo.jax.org/app/browse/search?q=TG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=188450 http://www.informatics.jax.org/searchtool/Search.do?query=TG&submit=Quick%0D%840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TG rs2069569 0.522364 0.6147 0.5024 0.08 1 13 exonic exonic exonic TG TG ENSG00000042832 nonsynonymous SNV nonsynonymous SNV unknown TG:NM_003235:exon43:c.T7501C:p.W2501R, TG:uc011ljc.2:exon14:c.T1900C:p.W634R,TG:uc010mdw.3:exon30:c.T3778C:p.W1260R,TG:uc003ytw.3:exon43:c.T7501C:p.W2501R,TG:uc011ljb.2:exon22:c.T2608C:p.W870R, UNKNOWN Het;T>C 1585;50|68 Het;T>C 1387;57|66 Hom;T>C 3038;1|117 N N - 8 134108718 134108718 G A snp intronic SLA Sla ENSG00000155926 Src like adaptor chr8:134048973-134115298 Blood Viscosity; Celiac Disease|; Tobacco Use Disorder Homozygous inactivation in this locus affects T cell development. GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLA https://www.uniprot.org/uniprot/Q13239 https://www.ncbi.nlm.nih.gov/omim/?term=601099 http://www.informatics.jax.org/searchtool/Search.do?query=SLA&submit=Quick%0D%9917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLA rs2739180 0.513179 0 0 1 0 0 intronic intronic intronic SLA,TG SLA,TG ENSG00000042832,ENSG00000155926 Na Na Na Na Na Na Het;G>A 137;8|6 Het;G>A 129;8|6 Hom;G>A 500;0|18 N N - 8 134114716 134114716 G A snp UTR5 -42311C>T SLA Sla ENSG00000155926 Src like adaptor chr8:134048973-134115298 Blood Viscosity; Celiac Disease|; Tobacco Use Disorder Homozygous inactivation in this locus affects T cell development. GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IBA|GO:0030154;cell differentiation;IBA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLA https://www.uniprot.org/uniprot/Q13239 https://www.ncbi.nlm.nih.gov/omim/?term=601099 http://www.informatics.jax.org/searchtool/Search.do?query=SLA&submit=Quick%0D%9917ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLA rs733735 0.422724 0 0 1 0 0 intronic intronic UTR5 SLA,TG SLA,TG ENSG00000155926(ENST00000522119:c.-42311C>T,ENST00000523610:c.-42311C>T) Na Na Na Na Na Na Het;G>A 554;27|28 Het;G>A 306;30|19 Hom;G>A 963;0|34 N N - 8 135490539 135490539 A G snp UTR3 *186T>C ZFAT Zfat ENSG00000066827 zinc finger and AT-hook domain containing chr8:135490031-135725292 This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] Waist Circumference; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; null; Body Height; Attention Deficit Disorder with Hyperactivity; monocyte chemoattractant protein 1 (66-77); Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030097;hemopoiesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060712;spongiotrophoblast layer development;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFAT https://www.uniprot.org/uniprot/Q9P243 https://www.ncbi.nlm.nih.gov/omim/?term=610931 http://www.informatics.jax.org/searchtool/Search.do?query=ZFAT&submit=Quick%0D%1234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFAT rs11538239 0.705072 0 0 1 0 0 UTR3 UTR3 UTR3 ZFAT(NM_001289394:c.*186T>C,NM_001174157:c.*186T>C,NM_001167583:c.*186T>C,NM_020863:c.*186T>C,NM_001174158:c.*186T>C,NM_001029939:c.*186T>C) ZFAT(uc011ljj.2:c.*186T>C,uc003yun.3:c.*186T>C,uc003yuo.3:c.*186T>C,uc010meh.3:c.*186T>C,uc003yup.3:c.*186T>C,uc010mej.3:c.*186T>C,uc003yuq.3:c.*186T>C) ENSG00000066827(ENST00000520356:c.*186T>C,ENST00000523243:c.*1087T>C,ENST00000523924:c.*3900T>C,ENST00000377838:c.*186T>C,ENST00000429442:c.*301T>C,ENST00000520727:c.*186T>C,ENST00000520214:c.*186T>C,ENST00000521673:c.*186T>C) Na Na Na Na Na Na Het;A>G 1591;54|64 Het;A>G 1226;63|52 Hom;A>G 3436;0|121 N N - 8 136303364 136303364 A G snp ncRNA_intronic LINC01591 rs77317861 0.0207668 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LINC01591 LOC286094 ENSG00000254083 Na Na Na Na Na Na Het;A>G 259;10|10 Het;A>G 186;5|7 Hom;A>G 381;0|14 N N - 8 136560952 136560952 A G snp intronic KHDRBS3 Khdrbs3 ENSG00000131773 KH RNA binding domain containing, signal transduction associated 3 chr8:136469700-136668965 epilepsy Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. PTK6 Regulates Proteins Involved in RNA Processing GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0007283;spermatogenesis;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KHDRBS3 https://www.uniprot.org/uniprot/O75525 https://www.ncbi.nlm.nih.gov/omim/?term=610421 http://www.informatics.jax.org/searchtool/Search.do?query=KHDRBS3&submit=Quick%0D%6585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KHDRBS3 rs12545587 0.563299 0.5226 0.6457 1 0 0 intronic intronic intronic KHDRBS3 KHDRBS3 ENSG00000131773 Na Na Na Na Na Na Het;A>G 486;24|21 Het;A>G 404;20|17 Hom;A>G 1051;1|38 N N - 8 136561153 136561153 A G snp intronic KHDRBS3 Khdrbs3 ENSG00000131773 KH RNA binding domain containing, signal transduction associated 3 chr8:136469700-136668965 epilepsy Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. PTK6 Regulates Proteins Involved in RNA Processing GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0007283;spermatogenesis;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KHDRBS3 https://www.uniprot.org/uniprot/O75525 https://www.ncbi.nlm.nih.gov/omim/?term=610421 http://www.informatics.jax.org/searchtool/Search.do?query=KHDRBS3&submit=Quick%0D%6585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KHDRBS3 rs11166602 0.586462 0.5462 0.6440 1 0 0 intronic intronic intronic KHDRBS3 KHDRBS3 ENSG00000131773 Na Na Na Na Na Na Het;A>G 965;60|44 Het;A>G 1139;66|53 Hom;A>G 3458;1|121 N N - 8 136759273 136759273 C A snp intergenic KHDRBS3 Khdrbs3 ENSG00000131773 KH RNA binding domain containing, signal transduction associated 3 chr8:136469700-136668965 epilepsy Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. PTK6 Regulates Proteins Involved in RNA Processing GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0007283;spermatogenesis;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KHDRBS3 https://www.uniprot.org/uniprot/O75525 https://www.ncbi.nlm.nih.gov/omim/?term=610421 http://www.informatics.jax.org/searchtool/Search.do?query=KHDRBS3&submit=Quick%0D%6585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KHDRBS3 rs57318033 0.720447 0 0 1 0 0 intergenic intergenic intergenic KHDRBS3(dist=99421),LOC101927915(dist=1659071) U1(dist=4535),NONE(dist=NONE) ENSG00000199652(dist=4535),ENSG00000253248(dist=299991) Na Na Na Na Na Na Het;C>A 216;13|11 Het;C>A 109;27|10 Hom;C>A 370;2|16 N N - 8 137409434 137409434 C G snp intergenic KHDRBS3 Khdrbs3 ENSG00000131773 KH RNA binding domain containing, signal transduction associated 3 chr8:136469700-136668965 epilepsy Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. PTK6 Regulates Proteins Involved in RNA Processing GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0007283;spermatogenesis;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KHDRBS3 https://www.uniprot.org/uniprot/O75525 https://www.ncbi.nlm.nih.gov/omim/?term=610421 http://www.informatics.jax.org/searchtool/Search.do?query=KHDRBS3&submit=Quick%0D%6585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KHDRBS3 rs10283025 0.396166 0 0 1 0 0 intergenic intergenic intergenic KHDRBS3(dist=749582),LOC101927915(dist=1008910) U1(dist=654696),Mir_720(dist=1685737) ENSG00000253248(dist=231069),ENSG00000253839(dist=92257) Na Na Na Na Na Na Het;C>G 544;15|22 Het;C>G 635;28|27 Hom;C>G 1189;4|42 N N - 8 137459315 137459315 G C snp intergenic KHDRBS3 Khdrbs3 ENSG00000131773 KH RNA binding domain containing, signal transduction associated 3 chr8:136469700-136668965 epilepsy Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. PTK6 Regulates Proteins Involved in RNA Processing GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0007283;spermatogenesis;TAS|GO:0048024;regulation of mRNA splicing, via spliceosome;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KHDRBS3 https://www.uniprot.org/uniprot/O75525 https://www.ncbi.nlm.nih.gov/omim/?term=610421 http://www.informatics.jax.org/searchtool/Search.do?query=KHDRBS3&submit=Quick%0D%6585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KHDRBS3 rs10105681 0.224241 0 0 1 0 0 intergenic intergenic intergenic KHDRBS3(dist=799463),LOC101927915(dist=959029) U1(dist=704577),Mir_720(dist=1635856) ENSG00000253248(dist=280950),ENSG00000253839(dist=42376) Na Na Na Na Na Na Het;G>C 311;38|18 Het;G>C 496;22|23 Hom;G>C 1357;0|51 N N - 8 138710637 138710637 C A snp ncRNA_exonic AC110053.1 rs10481397 0.305112 0 0 1 0 0 intergenic intergenic ncRNA_exonic LOC101927915(dist=284806),FAM135B(dist=431629) U1(dist=1955899),Mir_720(dist=384534) ENSG00000254076 Na Na Na Na Na Na Het;C>A 230;13|10 Het;C>A 60;7|5 Hom;C>A 388;0|15 N N - 8 139158169 139158169 G T snp intronic FAM135B Fam135b ENSG00000147724 family with sequence similarity 135 member B chr8:139142266-139509065 Osteoporosis; monocyte chemoattractant protein 1 (66-77); Triglycerides; Heart Failure; Cholesterol; Hip; Cognitive performance ; Echocardiography GO:0044255;cellular lipid metabolic process;IBA GO:0052689;carboxylic ester hydrolase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/FAM135B https://www.uniprot.org/uniprot/Q49AJ0 http://www.informatics.jax.org/searchtool/Search.do?query=FAM135B&submit=Quick%0D%9045ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM135B rs2280849 0.166134 0.1119 0.1168 1 0 0 intronic intronic intronic FAM135B FAM135B ENSG00000147724 Na Na Na Na Na Na Het;G>T 434;13|19 Het;G>T 404;27|20 Hom;G>T 1022;0|36 N N - 8 139869307 139869307 T C snp intronic COL22A1 Col22a1 ENSG00000169436 collagen type XXII alpha 1 chain chr8:139600478-139926249 COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008] Electrocardiography; Leukocyte Count; Echocardiography; Adiponectin; Parkinson Disease; Body Composition; Hemoglobins; Tobacco Use Disorder; Creatinine; Body Fat Distribution; Stroke; Alzheimer Disease; Dehydroepiandrosterone; Cardiovascular Diseases; Hemoglobin A, Glycosylated; serum creatinine; Cholesterol, HDL Collagen chain trimerization GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS http://www.genecards.org/index.php?path=/Search/keyword/COL22A1 https://www.ncbi.nlm.nih.gov/omim/?term=610026 http://www.informatics.jax.org/searchtool/Search.do?query=COL22A1&submit=Quick%0D%12495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL22A1 rs6985916 0.573083 0 0 1 0 0 intronic intronic intronic COL22A1 COL22A1 ENSG00000169436 Na Na Na Na Na Na Het;T>C 75;3|5 Ref Hom;T>C 145;0|7 N N - 8 139869353 139869353 C T snp intronic COL22A1 Col22a1 ENSG00000169436 collagen type XXII alpha 1 chain chr8:139600478-139926249 COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008] Electrocardiography; Leukocyte Count; Echocardiography; Adiponectin; Parkinson Disease; Body Composition; Hemoglobins; Tobacco Use Disorder; Creatinine; Body Fat Distribution; Stroke; Alzheimer Disease; Dehydroepiandrosterone; Cardiovascular Diseases; Hemoglobin A, Glycosylated; serum creatinine; Cholesterol, HDL Collagen chain trimerization GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS http://www.genecards.org/index.php?path=/Search/keyword/COL22A1 https://www.ncbi.nlm.nih.gov/omim/?term=610026 http://www.informatics.jax.org/searchtool/Search.do?query=COL22A1&submit=Quick%0D%12495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL22A1 rs7000416 0.551118 0 0 1 0 0 intronic intronic intronic COL22A1 COL22A1 ENSG00000169436 Na Na Na Na Na Na Het;C>T 47;4|4 Ref Hom;C>T 97;0|4 N N - 8 140922991 140922991 T G snp intronic TRAPPC9 Trappc9 ENSG00000167632 trafficking protein particle complex 9 chr8:140742586-141468678 This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] Body Mass Index; Heart Failure; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0021987;cerebral cortex development;IMP|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC9 https://hpo.jax.org/app/browse/search?q=TRAPPC9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611966 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC9&submit=Quick%0D%12062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC9 rs12543652 0.0920527 0 0 1 0 0 intronic intronic intronic TRAPPC9 TRAPPC9 ENSG00000167632 Na Na Na Na Na Na Het;T>G 56;1|4 Ref Hom;T>G 55;0|3 N N - 8 14095008 14095008 C CAACA indel intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs144265627 0.253994 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;+AACA 236;13|10 Het;+AACA 255;10|9 Hom;+AACA 680;0|16 N N - 8 140981555 140981555 T C snp intronic TRAPPC9 Trappc9 ENSG00000167632 trafficking protein particle complex 9 chr8:140742586-141468678 This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] Body Mass Index; Heart Failure; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0021987;cerebral cortex development;IMP|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC9 https://hpo.jax.org/app/browse/search?q=TRAPPC9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611966 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC9&submit=Quick%0D%12062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC9 rs2614727 0.110423 0 0 1 0 0 intronic intronic intronic TRAPPC9 TRAPPC9 ENSG00000167632 Na Na Na Na Na Na Het;T>C 72;3|4 Het;T>C 63;10|5 Hom;T>C 55;1|3 N N - 8 142160829 142160829 T G snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs35212078 0.26877 0 0 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;T>G 510;12|16 Het;T>G 134;10|5 Hom;T>G 549;0|14 N N - 8 142161064 142161064 C T snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs3816063 0.267372 0.3155 0.3067 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;C>T 2049;82|90 Het;C>T 1879;72|88 Hom;C>T 4663;0|169 N N - 8 142176280 142176280 G A snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs2241735 0.205471 0.2038 0.2048 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;G>A 1073;42|44 Het;G>A 997;41|44 Hom;G>A 2369;0|83 N N - 8 142176584 142176584 C T snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs62522182 0.19389 0 0 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;C>T 146;14|6 Het;C>T 187;12|7 Hom;C>T 173;0|6 N N - 8 142178718 142178718 C T snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs57171090 0.225839 0 0 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;C>T 143;2|5 Ref Hom;C>T 217;0|8 N N - 8 142185580 142185580 G A snp nonsynonymous SNV G1369A G457S aliphatic,neutral polar,hydrophilic,neutral DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs12675070 0.28135 0.2867 0.2933 1 0 0 intronic exonic intronic DENND3 DENND3 ENSG00000105339 Na nonsynonymous SNV Na Na DENND3:uc003yvz.1:exon6:c.G1369A:p.G457S, Na Het;G>A 769;21|30 Het;G>A 362;14|14 Hom;G>A 1069;0|40 N N - 8 142186963 142186963 G A snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs2241734 0.255192 0 0 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;G>A 125;10|5 Het;G>A 150;3|5 Hom;G>A 312;0|9 N N - 8 142188039 142188039 C T snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs307731 0.396166 0 0 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;C>T 65;6|3 Het;C>T 107;4|4 Hom;C>T 203;0|6 N N - 8 142191032 142191032 T G snp intronic DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs2278448 0.279353 0 0 1 0 0 intronic intronic intronic DENND3 DENND3 ENSG00000105339 Na Na Na Na Na Na Het;T>G 1105;36|50 Het;T>G 682;31|32 Hom;T>G 2431;0|87 N N - 8 142437815 142437815 G A snp intronic PTP4A3 Ptp4a3 ENSG00000275575 protein tyrosine phosphatase type IVA, member 3 chr8:142402093-142441620 This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Mice homozygous for a knock-out allele exhibit partial preweaning lethality and decreased incidence of AOM-DDS induced tumors. Mice homozygous for a different targeted allele exhibit decreased circulating glucose levels in an intraperitoneal glucose tolerance test. GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043542;endothelial cell migration;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IDA|GO:1904951;positive regulation of establishment of protein localization;IMP GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IMP|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004727;prenylated protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTP4A3 https://www.ncbi.nlm.nih.gov/omim/?term=606449 http://www.informatics.jax.org/searchtool/Search.do?query=PTP4A3&submit=Quick%0D%21389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTP4A3 rs7465455 0.189297 0.1746 0.1936 1 0 0 intronic intronic intronic PTP4A3 PTP4A3 ENSG00000184489 Na Na Na Na Na Na Het;G>A 487;25|23 Het;G>A 459;15|22 Hom;G>A 912;0|34 N N - 8 142437934 142437934 C T snp intronic PTP4A3 Ptp4a3 ENSG00000275575 protein tyrosine phosphatase type IVA, member 3 chr8:142402093-142441620 This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Mice homozygous for a knock-out allele exhibit partial preweaning lethality and decreased incidence of AOM-DDS induced tumors. Mice homozygous for a different targeted allele exhibit decreased circulating glucose levels in an intraperitoneal glucose tolerance test. GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043542;endothelial cell migration;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IDA|GO:1904951;positive regulation of establishment of protein localization;IMP GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IMP|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0004727;prenylated protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTP4A3 https://www.ncbi.nlm.nih.gov/omim/?term=606449 http://www.informatics.jax.org/searchtool/Search.do?query=PTP4A3&submit=Quick%0D%21389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTP4A3 rs7465654 0.165735 0.1605 0.1808 1 0 0 intronic intronic intronic PTP4A3 PTP4A3 ENSG00000184489 Na Na Na Na Na Na Het;C>T 809;23|36 Het;C>T 330;24|17 Hom;C>T 1548;0|62 N N - 8 142451399 142451399 C T snp intronic MROH5 ENSG00000282181 maestro heat like repeat family member 5 chr8:142443929-142517330 Hair Color; Breath Tests; Body Mass Index; Magnesium; Myocardial Infarction http://www.genecards.org/index.php?path=/Search/keyword/MROH5 http://www.informatics.jax.org/searchtool/Search.do?query=MROH5&submit=Quick%0D%22428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH5 rs73372116 0.189497 0.1980 0.2038 1 0 0 intronic intronic intronic MROH5 MROH5 ENSG00000226807 Na Na Na Na Na Na Het;C>T 267;24|15 Het;C>T 229;12|11 Hom;C>T 387;0|14 N N - 8 142488553 142488553 G T snp intronic MROH5 ENSG00000282181 maestro heat like repeat family member 5 chr8:142443929-142517330 Hair Color; Breath Tests; Body Mass Index; Magnesium; Myocardial Infarction http://www.genecards.org/index.php?path=/Search/keyword/MROH5 http://www.informatics.jax.org/searchtool/Search.do?query=MROH5&submit=Quick%0D%22428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH5 rs2613644 0.414736 0 0 1 0 0 intronic intronic intronic MROH5 MROH5 ENSG00000226807 Na Na Na Na Na Na Het;G>T 72;3|3 Het;G>T 61;7|3 Hom;G>T 130;0|4 N N - 8 142926847 142926847 T TCCCTGCCTC indel intergenic MIR1302-7 rs151141845 0.288738 0 0 1 0 0 intergenic intergenic intergenic MIR1302-7(dist=59173),MIR4539(dist=152790) MROH5(dist=409517),MIR4472-1(dist=330853) ENSG00000226490(dist=398010),ENSG00000221123(dist=100013) Na Na Na Na Na Na Het;+CCCTGCCTC 86;1|2 Ref Hom;+CCCTGCCTC 212;0|6 N N - 8 142926892 142926892 C T snp intergenic MIR1302-7 rs9785126 0.289936 0 0 1 0 0 intergenic intergenic intergenic MIR1302-7(dist=59218),MIR4539(dist=152745) MROH5(dist=409562),MIR4472-1(dist=330808) ENSG00000226490(dist=398055),ENSG00000221123(dist=99968) Na Na Na Na Na Na Het;C>T 48;1|3 Ref Hom;C>T 110;0|5 N N - 8 143762724 143762724 C A snp ncRNA_exonic AX747544 rs2976391 0.403754 0.4264 0.4420 1 0 0 intronic ncRNA_exonic ncRNA_intronic PSCA AX747544 ENSG00000234616 Na Na Na Na Na Na Het;C>A 998;52|42 Het;C>A 1131;35|49 Hom;C>A 2040;0|68 N N - 8 143781858 143781858 G A snp unknown LY6K Ly6k ENSG00000160886 lymphocyte antigen 6 family member K chr8:143781529-143786545 Mice homozygous for a knock-out allele exhibit male infertility associated with impaired sperm migration into the oviduct. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0030317;flagellated sperm motility;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LY6K https://www.ncbi.nlm.nih.gov/omim/?term=615093 http://www.informatics.jax.org/searchtool/Search.do?query=LY6K&submit=Quick%0D%10527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY6K rs1048831 0.482228 0 0.6014 1 0 0 UTR5 UTR5 exonic LY6K(NM_001160355:c.-88G>A,NM_001160354:c.-88G>A,NM_017527:c.-88G>A) LY6K(uc011ljv.2:c.-88G>A,uc011ljw.2:c.-88G>A,uc011ljx.2:c.-88G>A) ENSG00000160886 Na Na unknown Na Na UNKNOWN Het;G>A 166;16|8 Het;G>A 111;12|5 Hom;G>A 346;0|12 N N - 8 143784500 143784500 T G snp ncRNA_exonic LOC100288181 rs2244163 0.392173 0.4366 0.4217 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;T>G 2440;95|90 Het;T>G 2298;81|93 Hom;T>G 5013;0|163 N N - 8 143784885 143784885 C A snp ncRNA_exonic LOC100288181 rs2244152 0.474241 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;C>A 2004;115|92 Het;C>A 2273;101|105 Hom;C>A 5074;4|195 N N - 8 143785345 143785345 G A snp ncRNA_exonic LOC100288181 rs2585153 0.474441 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;G>A 1478;90|65 Het;G>A 1334;99|61 Hom;G>A 4049;0|147 N N - 8 143785549 143785549 A G snp ncRNA_exonic LOC100288181 rs2572899 0.47504 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;A>G 589;46|23 Het;A>G 729;31|31 Hom;A>G 1441;0|52 N N - 8 143786214 143786214 A T snp ncRNA_exonic LOC100288181 rs2585152 0.47524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;A>T 799;55|36 Het;A>T 808;53|37 Hom;A>T 2043;0|71 N N - 8 143786461 143786461 A G snp ncRNA_exonic LOC100288181 rs2082801 0.392173 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;A>G 568;41|28 Het;A>G 669;35|32 Hom;A>G 1696;0|63 N N - 8 143787808 143787808 T A snp ncRNA_exonic LOC100288181 rs2717550 0.47524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;T>A 1667;73|73 Het;T>A 2165;89|100 Hom;T>A 3994;0|147 N N - 8 143787999 143787999 G A snp ncRNA_exonic LOC100288181 rs1469811 0.47524 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;G>A 1475;132|73 Het;G>A 1831;98|88 Hom;G>A 3299;0|120 N N - 8 143788831 143788831 A T snp ncRNA_exonic LOC100288181 rs2164307 0.391174 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;A>T 1723;132|74 Het;A>T 2358;96|99 Hom;A>T 5347;1|192 N N - 8 143789775 143789775 T C snp ncRNA_exonic LOC100288181 rs1560986 0.391773 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;T>C 83;5|5 Het;T>C 210;6|11 Hom;T>C 585;0|22 N N - 8 143808175 143808175 C G snp ncRNA_exonic LOC100288181 rs2585139 0.396965 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC100288181 LOC100288181 ENSG00000253741 Na Na Na Na Na Na Het;C>G 971;65|47 Het;C>G 801;39|37 Hom;C>G 2131;0|75 N N - 8 143808667 143808667 T C snp UTR5 -98T>C THEM6 Them6 ENSG00000130193 thioesterase superfamily member 6 chr8:143808621-143818345 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/THEM6 https://www.uniprot.org/uniprot/Q8WUY1 http://www.informatics.jax.org/searchtool/Search.do?query=THEM6&submit=Quick%0D%6329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THEM6 rs2257796 0.490415 0 0 1 0 0 UTR5 UTR5 UTR5 THEM6(NM_016647:c.-98T>C) THEM6(uc003yww.1:c.-98T>C) ENSG00000130193(ENST00000336138:c.-98T>C) Na Na Na Na Na Na Het;T>C 281;12|9 Het;T>C 122;5|6 Hom;T>C 156;0|6 N N - 8 143808951 143808951 C T snp synonymous SNV C187T L63L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral THEM6 Them6 ENSG00000130193 thioesterase superfamily member 6 chr8:143808621-143818345 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/THEM6 https://www.uniprot.org/uniprot/Q8WUY1 http://www.informatics.jax.org/searchtool/Search.do?query=THEM6&submit=Quick%0D%6329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THEM6 rs2585138 0.488219 0.5223 0.5171 1 0 0 exonic exonic exonic THEM6 THEM6 ENSG00000130193 synonymous SNV synonymous SNV unknown THEM6:NM_016647:exon1:c.C187T:p.L63L, THEM6:uc003yww.1:exon1:c.C187T:p.L63L,THEM6:uc011ljy.1:exon1:c.C187T:p.L63L, UNKNOWN Het;C>T 1253;57|59 Het;C>T 774;66|39 Hom;C>T 3105;0|115 N N - 8 143809193 143809193 C T snp synonymous SNV C429T G143G aliphatic,neutral aliphatic,neutral THEM6 Them6 ENSG00000130193 thioesterase superfamily member 6 chr8:143808621-143818345 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/THEM6 https://www.uniprot.org/uniprot/Q8WUY1 http://www.informatics.jax.org/searchtool/Search.do?query=THEM6&submit=Quick%0D%6329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THEM6 rs2257840 0.473043 0.4339 0.5656 1 0 0 exonic exonic exonic THEM6 THEM6 ENSG00000130193 synonymous SNV synonymous SNV unknown THEM6:NM_016647:exon1:c.C429T:p.G143G, THEM6:uc003yww.1:exon1:c.C429T:p.G143G, UNKNOWN Het;C>T 233;14|11 Het;C>T 507;8|22 Hom;C>T 867;0|30 N N - 8 143867157 143867157 C T snp ncRNA_intronic AC083841.2 rs60714144 0.311302 0 0 1 0 0 intronic intronic ncRNA_intronic LY6D LY6D ENSG00000253715 Na Na Na Na Na Na Het;C>T 733;30|33 Het;C>T 865;17|38 Hom;C>T 1414;0|51 N N - 8 143867841 143867841 C G snp ncRNA_intronic AC083841.2 rs2717607 0.555711 0.6376 0.5284 1 0 0 intronic intronic ncRNA_intronic LY6D LY6D ENSG00000253715 Na Na Na Na Na Na Het;C>G 47;10|4 Het;C>G 47;4|4 Hom;C>G 186;0|8 N N - 8 143867905 143867905 C T snp nonsynonymous SNV G28A A10T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral LY6D Ly6d ENSG00000167656 lymphocyte antigen 6 family member D chr8:143866296-143868008 HIV Infections|[X]Human immunodeficiency virus disease Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007155;cell adhesion;TAS|GO:0030098;lymphocyte differentiation;IEA|GO:0035634;response to stilbenoid;IEA GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;TAS|GO:0031225;anchored component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LY6D https://www.ncbi.nlm.nih.gov/omim/?term=606204 http://www.informatics.jax.org/searchtool/Search.do?query=LY6D&submit=Quick%0D%12072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY6D rs2572925 0.361821 0.3886 0.3801 0.23 3 13 exonic exonic exonic LY6D LY6D ENSG00000167656 nonsynonymous SNV nonsynonymous SNV unknown LY6D:NM_003695:exon1:c.G28A:p.A10T, LY6D:uc003yxf.1:exon1:c.G28A:p.A10T, UNKNOWN Het;C>T 313;21|16 Het;C>T 172;19|12 Hom;C>T 524;1|21 N N - 8 143953937 143953937 A C snp UTR3 *1852T>G CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs4736312 0.696286 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*1852T>G,NM_001026213:c.*1852T>G) CYP11B1(uc010mex.3:c.*1852T>G,uc003yxh.3:c.*1852T>G,uc003yxi.3:c.*1852T>G,uc003yxj.3:c.*1852T>G,uc010mey.3:c.*1852T>G) ENSG00000160882(ENST00000519285:c.*1852T>G) Na Na Na Na Na Na Het;A>C 183;5|7 Ref Hom;A>C 193;0|7 N N - 8 143954223 143954223 C A snp UTR3 *1566G>T CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs1134096 0.696086 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*1566G>T,NM_001026213:c.*1566G>T) CYP11B1(uc010mex.3:c.*1566G>T,uc003yxh.3:c.*1566G>T,uc003yxi.3:c.*1566G>T,uc003yxj.3:c.*1566G>T,uc010mey.3:c.*1566G>T) ENSG00000160882(ENST00000519285:c.*1566G>T) Na Na Na Na Na Na Het;C>A 196;15|11 Het;C>A 293;13|13 Hom;C>A 999;0|38 N N - 8 143954290 143954290 G A snp UTR3 *1499C>T CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs1134095 0.694089 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*1499C>T,NM_001026213:c.*1499C>T) CYP11B1(uc010mex.3:c.*1499C>T,uc003yxh.3:c.*1499C>T,uc003yxi.3:c.*1499C>T,uc003yxj.3:c.*1499C>T,uc010mey.3:c.*1499C>T) ENSG00000160882(ENST00000519285:c.*1499C>T) Na Na Na Na Na Na Het;G>A 313;26|16 Het;G>A 437;17|19 Hom;G>A 1121;0|40 N N - 8 143954747 143954747 T C snp UTR3 *1042A>G CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs7003319 0.695687 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*1042A>G,NM_001026213:c.*1042A>G) CYP11B1(uc010mex.3:c.*1042A>G,uc003yxh.3:c.*1042A>G,uc003yxi.3:c.*1042A>G,uc003yxj.3:c.*1042A>G,uc010mey.3:c.*1042A>G) ENSG00000160882(ENST00000519285:c.*1042A>G,ENST00000292427:c.*1042A>G) Na Na Na Na Na Na Het;T>C 1395;63|62 Het;T>C 1090;72|54 Hom;T>C 3286;0|119 N N - 8 143954769 143954769 G A snp UTR3 *1020C>T CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs5017238 0.695687 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*1020C>T,NM_001026213:c.*1020C>T) CYP11B1(uc010mex.3:c.*1020C>T,uc003yxh.3:c.*1020C>T,uc003yxi.3:c.*1020C>T,uc003yxj.3:c.*1020C>T,uc010mey.3:c.*1020C>T) ENSG00000160882(ENST00000519285:c.*1020C>T,ENST00000292427:c.*1020C>T) Na Na Na Na Na Na Het;G>A 1697;64|74 Het;G>A 1295;68|57 Hom;G>A 3899;0|140 N N - 8 143955051 143955051 C T snp UTR3 *738G>A CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs5304 0.695687 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*738G>A,NM_001026213:c.*738G>A) CYP11B1(uc010mex.3:c.*738G>A,uc003yxh.3:c.*738G>A,uc003yxi.3:c.*738G>A,uc003yxj.3:c.*738G>A,uc010mey.3:c.*738G>A) ENSG00000160882(ENST00000519285:c.*738G>A,ENST00000292427:c.*738G>A) Na Na Na Na Na Na Het;C>T 1220;46|52 Het;C>T 679;64|36 Hom;C>T 2205;0|84 N N - 8 143955095 143955095 A G snp UTR3 *694T>C CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs5303 0.746206 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*694T>C,NM_001026213:c.*694T>C) CYP11B1(uc010mex.3:c.*694T>C,uc003yxh.3:c.*694T>C,uc003yxi.3:c.*694T>C,uc003yxj.3:c.*694T>C,uc010mey.3:c.*694T>C) ENSG00000160882(ENST00000519285:c.*694T>C,ENST00000292427:c.*694T>C) Na Na Na Na Na Na Het;A>G 1099;45|53 Het;A>G 684;57|33 Hom;A>G 2086;0|76 N N - 8 143955318 143955318 T G snp UTR3 *471A>C CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs12543598 0.751198 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*471A>C,NM_001026213:c.*471A>C) CYP11B1(uc010mex.3:c.*471A>C,uc003yxh.3:c.*471A>C,uc003yxi.3:c.*471A>C,uc003yxj.3:c.*471A>C,uc010mey.3:c.*471A>C) ENSG00000160882(ENST00000519285:c.*471A>C,ENST00000292427:c.*471A>C,ENST00000517471:c.*471A>C,ENST00000377675:c.*471A>C) Na Na Na Na Na Na Het;T>G 1865;80|76 Het;T>G 1651;60|71 Hom;T>G 3591;3|142 N N - 8 143955471 143955471 T C snp UTR3 *318A>G CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs5299 0.695687 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B1(NM_000497:c.*318A>G,NM_001026213:c.*318A>G) CYP11B1(uc010mex.3:c.*318A>G,uc003yxh.3:c.*318A>G,uc003yxi.3:c.*318A>G,uc003yxj.3:c.*318A>G,uc010mey.3:c.*318A>G) ENSG00000160882(ENST00000519285:c.*318A>G,ENST00000292427:c.*318A>G,ENST00000517471:c.*318A>G,ENST00000377675:c.*318A>G) Na Na Na Na Na Na Het;T>C 1616;66|63 Het;T>C 1486;54|60 Hom;T>C 2453;0|85 N N - 8 143956247 143956247 G C snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs4310186 0.696086 0 0 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;G>C 178;11|7 Het;G>C 224;8|9 Hom;G>C 345;0|10 N N - 8 143956808 143956808 A C snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs6395 0.741414 0 0.6130 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;A>C 285;20|12 Het;A>C 392;11|17 Hom;A>C 852;0|26 N N - 8 143956925 143956925 T C snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs6392 0.759784 0 0 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;T>C 77;3|3 Ref Hom;T>C 120;0|4 N N - 8 143957405 143957405 A C snp UTR5 -9T>G CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs6471570 0.684704 0 0.6483 1 0 0 intronic UTR5 intronic CYP11B1 CYP11B1(uc003yxh.3:c.-9T>G) ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;A>C 537;9|16 Het;A>C 386;12|12 Hom;A>C 701;0|19 N N - 8 143957856 143957856 G A snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs7822986 0.685304 0.5803 0.6398 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;G>A 1308;38|58 Het;G>A 1175;60|57 Hom;G>A 2944;0|109 N N - 8 143957886 143957886 A C snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs10105643 0.759385 0 0 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;A>C 828;28|32 Het;A>C 792;40|35 Hom;A>C 2420;0|82 N N - 8 143957958 143957958 G A snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs12674916 0.602436 0 0 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;G>A 609;14|18 Het;G>A 557;16|17 Hom;G>A 1197;0|29 N N - 8 143957979 143957979 A C snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs10956991 0.618211 0 0 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;A>C 523;18|17 Het;A>C 648;15|18 Hom;A>C 1249;0|29 N N - 8 143958427 143958427 C T snp intronic CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs6387 0.563698 0.4845 0.5688 1 0 0 intronic intronic intronic CYP11B1 CYP11B1 ENSG00000104499,ENSG00000160882 Na Na Na Na Na Na Het;C>T 2692;140|110 Het;C>T 1439;82|69 Hom;C>T 5789;0|200 N N - 8 143961005 143961005 T C snp synonymous SNV A225G L75L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP11B1 Cyp11b2 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 chr8:143953772-143961262 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11beta-hydroxylase activity; aldosterone hypertension; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Acquired Immunodeficiency Syndrome|Disease Progression; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; aldosterone; Hypertension; adrenal hyperplasia, congenital; hypertension; hyperaldosteronism; hypertension; breast cancer; Autism; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Coronary Artery Disease; patent ductus arteriosus; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. Endogenous sterols GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006955;immune response;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008217;regulation of blood pressure;IMP|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IDA|GO:0035865;cellular response to potassium ion;IEP|GO:0042593;glucose homeostasis;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B1 https://hpo.jax.org/app/browse/search?q=CYP11B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610613 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B1&submit=Quick%0D%10525ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B1 rs6410 0.584065 0.5077 0.5724 1 0 0 exonic exonic exonic CYP11B1 CYP11B1 ENSG00000160882 synonymous SNV synonymous SNV unknown CYP11B1:NM_001026213:exon1:c.A225G:p.L75L,CYP11B1:NM_000497:exon1:c.A225G:p.L75L, CYP11B1:uc003yxj.3:exon1:c.A225G:p.L75L,CYP11B1:uc010mey.3:exon1:c.A225G:p.L75L,CYP11B1:uc003yxi.3:exon1:c.A225G:p.L75L, UNKNOWN Het;T>C 1183;40|48 Het;T>C 714;35|31 Hom;T>C 2200;0|73 N N - 8 143992218 143992218 A G snp UTR3 *1178T>C CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs3802228 0.598842 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B2(NM_000498:c.*1178T>C) CYP11B2(uc003yxk.1:c.*1178T>C) ENSG00000179142(ENST00000323110:c.*1178T>C) Na Na Na Na Na Na Het;A>G 485;34|23 Het;A>G 430;25|19 Hom;A>G 1674;0|61 N N - 8 143992864 143992864 C A snp UTR3 *532G>T CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs3802230 0.595847 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B2(NM_000498:c.*532G>T) CYP11B2(uc003yxk.1:c.*532G>T) ENSG00000179142(ENST00000323110:c.*532G>T) Na Na Na Na Na Na Het;C>A 1320;48|56 Het;C>A 1212;38|53 Hom;C>A 2299;1|86 N N - 8 143993101 143993101 G GGGA indel UTR3 *295C>TCCC CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs142951814 0.77476 0 0 1 0 0 UTR3 UTR3 UTR3 CYP11B2(NM_000498:c.*295C>TCCC) CYP11B2(uc003yxk.1:c.*295C>TCCC) ENSG00000179142(ENST00000323110:c.*295C>TCCC) Na Na Na Na Na Na Het;+GGA 2890;72|73 Het;+GGA 2211;60|58 Hom;+GGA 4552;0|101 N N - 8 143993640 143993640 C T snp intronic CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs6433 0.773962 0 0 1 0 0 intronic intronic intronic CYP11B2 CYP11B2 ENSG00000104499,ENSG00000179142 Na Na Na Na Na Na Het;C>T 426;18|16 Het;C>T 287;8|11 Hom;C>T 791;0|24 N N - 8 143993765 143993765 G A snp intronic CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs6431 0.77476 0 0 1 0 0 intronic intronic intronic CYP11B2 CYP11B2 ENSG00000104499,ENSG00000179142 Na Na Na Na Na Na Het;G>A 213;3|7 Het;G>A 149;7|7 Hom;G>A 173;0|6 N N - 8 143994321 143994321 T C snp intronic CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs6435 0 0 0.5776 1 0 0 intronic intronic intronic CYP11B2 CYP11B2 ENSG00000104499,ENSG00000179142 Na Na Na Na Na Na Het;T>C 1175;54|43 Het;T>C 1067;41|40 Hom;T>C 1856;1|60 N N - 8 143994702 143994702 G T snp synonymous SNV C1120A R374R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CYP11B2 Cyp11b1 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 chr8:143991975-143999259 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] Pre-Eclampsia; blood pressure, arterial; atherosclerosis; Cerebrovascular Disorders; glaucoma; glaucoma, primary open-angle; hypertension; Hypertension, Pregnancy-Induced|Pre-Eclampsia; IgA nephropathy; Heart Failure|Ventricular Remodeling; coronary heart disease; hypertrophic cardiomyopathy; Conn's syndrome; drug-related genes ; heart rate; intima-media thickness; hypertension; hyperaldosteronism; Adrenal Cortex Neoplasms|Adrenal Cortical Adenoma|Adrenocortical Adenoma|Hyperaldosteronism|Tumors of Adrenal Cortex; carotid and femoral artery stiffness; aldosterone angiotensin II hypertension; restenosis; Idiopathic Dilated Cardiomyopathy; Diabetes Mellitus, Type 2|Hypertension; Acute Coronary Syndrome|; metabolic syndrome; Atrial Fibrillation|Heart Failure; plasma HDL cholesterol (HDL-C) levels; blood pressure, arterial hypertension; breast cancer; Type 2 Diabetes| edema | rosiglitazone; renal disease, end stage; null; Chronic renal failure|Kidney Failure, Chronic; cardiomyopathy; Hypertension|Kidney Diseases; renin activity; aldosterone; atherosclerosis, coronary; heart muscle disease, alcoholic; aortic stiffness; Coronary Disease|Hyperlipoproteinemia Type II; Atherosclerosis|Hypertension; left ventricular remodeling; Altitude Sickness|Pulmonary Edema; Cardiomyopathy, Hypertrophic, Familial|Hypertrophy, Left Ventricular; cardiovascular; Hypertension, Renal|Hypertrophy, Left Ventricular|Retinal Diseases; Diabetes Mellitus, Type 2|Diabetic Nephropathies|Hypertension; Type 2 diabetes; small artery compliance; left ventricular function left ventricular mass; Hypertension|Hypertrophy, Left Ventricular|Ventricular Remodeling; nephropathy; hypertension; left ventricular hypertrophy; myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary; hypertension kidney dysfunction; Atrial Fibrillation; rheumatoid arthritis; cerebral white matter hyperintensities; Cardiomyopathies|Heart Defects, Congenital; Cardiomyopathy, Hypertrophic; preeclampsia; eclampsia; HELLP syndrome; kidney failure, chronic; End- Stage Renal Disease (ESRD); hypertension; nephrotic syndrome; Apoplexy|Hypertension|Stroke; blood pressure, arterial; renin activity; aldosterone; Acquired Immunodeficiency Syndrome|Disease Progression; Cardiomyopathy, Hypertrophic, Familial; blood pressure; polycystic ovary syndrome; myocardial infarct; Connective Tissue Diseases|Hypertension, Pulmonary; left ventricular hypertrophy; sodium, urinary; atherosclerosis; aldosterone hypertension; Hypertension|Hypertrophy, Left Ventricular; blood pressure; aldosterone; renal allograft function; prostate cancer; 11beta-hydroxylase efficiency; hormone disturbance; Lymphoma, Non-Hodgkin; blood pressure, arterial; arterial wall changes; essential hypertension; creatinine; protein excretion, urinary; cardiovascular disease; 11beta-hydroxylase activity; left ventricular hypertrophy; Alzheimer's disease ; hypertension, pregnancy induced; Hypertension; pharmacogenetic studies; left ventricular structure; heart failure; aldosterone; blood pressure, arterial; blood pressure, arterial cholesterol; nephropathy, diabetic; high-altitude tolerance Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. Endogenous sterols GO:0002017;regulation of blood volume by renal aldosterone;IMP|GO:0003091;renal water homeostasis;IC|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006700;C21-steroid hormone biosynthetic process;IDA|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0016125;sterol metabolic process;TAS|GO:0032342;aldosterone biosynthetic process;IDA|GO:0032870;cellular response to hormone stimulus;IEP|GO:0034651;cortisol biosynthetic process;IMP|GO:0035865;cellular response to potassium ion;IEP|GO:0055075;potassium ion homeostasis;IMP|GO:0055078;sodium ion homeostasis;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0004507;steroid 11-beta-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047783;corticosterone 18-monooxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CYP11B2 https://hpo.jax.org/app/browse/search?q=CYP11B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=124080 http://www.informatics.jax.org/searchtool/Search.do?query=CYP11B2&submit=Quick%0D%14298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP11B2 rs4538 0.607628 0.5342 0.5922 1 0 0 exonic exonic exonic CYP11B2 CYP11B2 ENSG00000179142 synonymous SNV synonymous SNV unknown CYP11B2:NM_000498:exon6:c.C1120A:p.R374R, CYP11B2:uc003yxk.1:exon6:c.C1120A:p.R374R, UNKNOWN Het;G>T 492;23|20 Het;G>T 894;35|40 Hom;G>T 1328;0|46 N N - 8 144075814 144075815 CA C indel ncRNA_intronic AC105202.1 rs5895738 0.401558 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic LOC100133669 LOC100133669 ENSG00000247317 Na Na Na Na Na Na Het;-A 32;2|2 Ref Hom;-A 125;0|4 N N - 8 144267947 144267947 C A snp intergenic LY6H Ly6h ENSG00000274488 lymphocyte antigen 6 family member H chr8:144239331-144242128 Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007399;nervous system development;TAS|GO:0009887;animal organ morphogenesis;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LY6H https://www.ncbi.nlm.nih.gov/omim/?term=603625 http://www.informatics.jax.org/searchtool/Search.do?query=LY6H&submit=Quick%0D%21127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY6H rs7460959 0.390974 0 0 1 0 0 intergenic intergenic intergenic LY6H(dist=25894),GPIHBP1(dist=27121) LY6H(dist=25894),GPIHBP1(dist=27121) ENSG00000176956(dist=25819),ENSG00000182851(dist=27121) Na Na Na Na Na Na Het;C>A 47;4|4 Het;C>A 53;2|4 Hom;C>A 198;0|9 N N - 8 144267970 144267970 T C snp intergenic LY6H Ly6h ENSG00000274488 lymphocyte antigen 6 family member H chr8:144239331-144242128 Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007399;nervous system development;TAS|GO:0009887;animal organ morphogenesis;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LY6H https://www.ncbi.nlm.nih.gov/omim/?term=603625 http://www.informatics.jax.org/searchtool/Search.do?query=LY6H&submit=Quick%0D%21127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY6H rs7463013 0.391174 0 0 1 0 0 intergenic intergenic intergenic LY6H(dist=25917),GPIHBP1(dist=27098) LY6H(dist=25917),GPIHBP1(dist=27098) ENSG00000176956(dist=25842),ENSG00000182851(dist=27098) Na Na Na Na Na Na Het;T>C 47;4|4 Het;T>C 50;2|3 Hom;T>C 163;0|7 N N - 8 144268446 144268446 A T snp intergenic LY6H Ly6h ENSG00000274488 lymphocyte antigen 6 family member H chr8:144239331-144242128 Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007399;nervous system development;TAS|GO:0009887;animal organ morphogenesis;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LY6H https://www.ncbi.nlm.nih.gov/omim/?term=603625 http://www.informatics.jax.org/searchtool/Search.do?query=LY6H&submit=Quick%0D%21127ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY6H rs10112851 0.518171 0 0 1 0 0 intergenic intergenic intergenic LY6H(dist=26393),GPIHBP1(dist=26622) LY6H(dist=26393),GPIHBP1(dist=26622) ENSG00000176956(dist=26318),ENSG00000182851(dist=26622) Na Na Na Na Na Na Het;A>T 820;29|39 Het;A>T 526;19|26 Hom;A>T 1560;0|62 N N - 8 144301060 144301060 G GCTGGGCAGGGAGGGGGCGGGGT indel intergenic GPIHBP1 Gpihbp1 ENSG00000277494 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 chr8:144295068-144299044 This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] HYPERLIPOPROTEINEMIA TYPE ID Mice homozygous for a null allele exhibit milky plasma due to increased triglyceride and cholesterol levels. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006501;C-terminal protein lipidation;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006886;intracellular protein transport;ISS|GO:0017038;protein import;ISS|GO:0034371;chylomicron remodeling;TAS|GO:0034394;protein localization to cell surface;ISS|GO:0042632;cholesterol homeostasis;IEA|GO:0045056;transcytosis;ISS|GO:0050821;protein stabilization;IEA|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0051006;positive regulation of lipoprotein lipase activity;IMP|GO:0070328;triglyceride homeostasis;IMP|GO:0071503;response to heparin;IMP|GO:0071806;protein transmembrane transport;IEA|GO:0090321;positive regulation of chylomicron remnant clearance;IEA GO:0005576;extracellular region;TAS|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0016324;apical plasma membrane;ISS|GO:0031225;anchored component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0046658;anchored component of plasma membrane;IEA GO:0008035;high-density lipoprotein particle binding;IEA|GO:0008289;lipid binding;IEA|GO:0008320;protein transmembrane transporter activity;ISS|GO:0035473;lipase binding;IPI|GO:0035478;chylomicron binding;IDA|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GPIHBP1 https://hpo.jax.org/app/browse/search?q=GPIHBP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612757 http://www.informatics.jax.org/searchtool/Search.do?query=GPIHBP1&submit=Quick%0D%21844ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPIHBP1 rs149896514 0.823882 0 0 1 0 0 intergenic intergenic intergenic GPIHBP1(dist=2016),ZFP41(dist=27931) GPIHBP1(dist=2016),ZFP41(dist=27931) ENSG00000182851(dist=2016),ENSG00000181638(dist=27931) Na Na Na Na Na Na Het;+CTGGGCAGGGAGGGGGCGGGGT 209;2|7 Het;+CTGGGCAGGGAGGGGGCGGGGT 41;2|2 Hom;+CTGGGCAGGGAGGGGGCGGGGT 187;0|5 N N - 8 144342384 144342384 C T snp UTR3 *1340C>T ZFP41 Zfp41 ENSG00000181638 ZFP41 zinc finger protein chr8:144329280-144358573 GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP41 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP41&submit=Quick%0D%14648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP41 rs3750211 0.8748 0 0 1 0 0 UTR3 UTR3 UTR3 ZFP41(NM_173832:c.*1340C>T) ZFP41(uc003yxw.4:c.*1340C>T) ENSG00000181638(ENST00000330701:c.*1340C>T) Na Na Na Na Na Na Het;C>T 281;10|12 Het;C>T 131;21|7 Hom;C>T 312;0|12 N N - 8 144343516 144343516 G A snp UTR3 *2472G>A ZFP41 Zfp41 ENSG00000181638 ZFP41 zinc finger protein chr8:144329280-144358573 GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP41 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP41&submit=Quick%0D%14648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP41 rs12681621 0.233227 0 0 1 0 0 UTR3 UTR3 UTR3 ZFP41(NM_173832:c.*2472G>A) ZFP41(uc003yxw.4:c.*2472G>A) ENSG00000181638(ENST00000330701:c.*2472G>A) Na Na Na Na Na Na Het;G>A 300;9|13 Het;G>A 313;8|16 Hom;G>A 589;0|23 N N - 8 144344309 144344309 C T snp UTR3 *3265C>T ZFP41 Zfp41 ENSG00000181638 ZFP41 zinc finger protein chr8:144329280-144358573 GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP41 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP41&submit=Quick%0D%14648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP41 rs150709598 0.0181709 0 0 1 0 0 UTR3 UTR3 UTR3 ZFP41(NM_173832:c.*3265C>T) ZFP41(uc003yxw.4:c.*3265C>T) ENSG00000181638(ENST00000330701:c.*3265C>T) Na Na Na Na Na Na Het;C>T 119;1|4 Het;C>T 145;4|5 Hom;C>T 127;0|4 N N - 8 144344387 144344387 A G snp UTR3 *3343A>G ZFP41 Zfp41 ENSG00000181638 ZFP41 zinc finger protein chr8:144329280-144358573 GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP41 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP41&submit=Quick%0D%14648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP41 rs3750213 0.886581 0 0 1 0 0 UTR3 UTR3 UTR3 ZFP41(NM_173832:c.*3343A>G) ZFP41(uc003yxw.4:c.*3343A>G) ENSG00000181638(ENST00000330701:c.*3343A>G) Na Na Na Na Na Na Het;A>G 273;6|11 Het;A>G 282;7|14 Hom;A>G 710;0|27 N N - 8 144358302 144358302 C T snp synonymous SNV C459T A153A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GLI4 ENSG00000250571 GLI family zinc finger 4 chr8:144349603-144359101 GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0008150;biological_process;ND GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLI4 https://www.ncbi.nlm.nih.gov/omim/?term=165280 http://www.informatics.jax.org/searchtool/Search.do?query=GLI4&submit=Quick%0D%19970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI4 rs1056146 0.28774 0.1930 0.3194 1 0 0 exonic exonic exonic GLI4 GLI4 ENSG00000250571 synonymous SNV synonymous SNV unknown GLI4:NM_138465:exon4:c.C459T:p.A153A, GLI4:uc003yxx.3:exon4:c.C459T:p.A153A, UNKNOWN Het;C>T 343;17|14 Het;C>T 502;17|19 Hom;C>T 957;0|36 N N - 8 144363827 144363827 G A snp ncRNA_exonic LOC100507316 rs56184499 0.286142 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC100507316 GLI4(dist=4726),ZNF696(dist=9732) ENSG00000253716 Na Na Na Na Na Na Het;G>A 2100;92|94 Het;G>A 1155;80|58 Hom;G>A 4150;0|160 N N - 8 144399856 144399857 TC T indel intronic TOP1MT Top1mt ENSG00000184428 topoisomerase (DNA) I, mitochondrial chr8:144386554-144442149 This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Acquired Immunodeficiency Syndrome|Disease Progression; esophageal adenocarcinoma Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. GO:0006260;DNA replication;IBA|GO:0006265;DNA topological change;IEA GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005739;mitochondrion;IEA|GO:0042645;mitochondrial nucleoid;IDA GO:0003677;DNA binding;IEA|GO:0003916;DNA topoisomerase activity;IEA|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOP1MT https://www.ncbi.nlm.nih.gov/omim/?term=606387 http://www.informatics.jax.org/searchtool/Search.do?query=TOP1MT&submit=Quick%0D%15204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP1MT rs3215410 0 0 0.8629 1 0 0 intronic intronic intronic TOP1MT TOP1MT ENSG00000184428 Na Na Na Na Na Na Het;-C 531;33|23 Het;-C 549;34|24 Hom;-C 1147;0|37 N N - 8 144400065 144400065 C T snp intronic TOP1MT Top1mt ENSG00000184428 topoisomerase (DNA) I, mitochondrial chr8:144386554-144442149 This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Acquired Immunodeficiency Syndrome|Disease Progression; esophageal adenocarcinoma Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. GO:0006260;DNA replication;IBA|GO:0006265;DNA topological change;IEA GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005739;mitochondrion;IEA|GO:0042645;mitochondrial nucleoid;IDA GO:0003677;DNA binding;IEA|GO:0003916;DNA topoisomerase activity;IEA|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOP1MT https://www.ncbi.nlm.nih.gov/omim/?term=606387 http://www.informatics.jax.org/searchtool/Search.do?query=TOP1MT&submit=Quick%0D%15204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP1MT rs2272635 0.277756 0 0.2753 1 0 0 intronic intronic intronic TOP1MT TOP1MT ENSG00000184428 Na Na Na Na Na Na Het;C>T 307;14|12 Het;C>T 320;11|11 Hom;C>T 822;0|28 N N - 8 144403485 144403485 G C snp synonymous SNV C1032G R344R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TOP1MT Top1mt ENSG00000184428 topoisomerase (DNA) I, mitochondrial chr8:144386554-144442149 This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Acquired Immunodeficiency Syndrome|Disease Progression; esophageal adenocarcinoma Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. GO:0006260;DNA replication;IBA|GO:0006265;DNA topological change;IEA GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005739;mitochondrion;IEA|GO:0042645;mitochondrial nucleoid;IDA GO:0003677;DNA binding;IEA|GO:0003916;DNA topoisomerase activity;IEA|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOP1MT https://www.ncbi.nlm.nih.gov/omim/?term=606387 http://www.informatics.jax.org/searchtool/Search.do?query=TOP1MT&submit=Quick%0D%15204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP1MT rs11544482 0.274361 0.3457 0.2691 1 0 0 exonic exonic exonic TOP1MT TOP1MT ENSG00000184428 synonymous SNV synonymous SNV unknown TOP1MT:NM_052963:exon8:c.C1032G:p.R344R,TOP1MT:NM_001258447:exon8:c.C738G:p.R246R,TOP1MT:NM_001258446:exon9:c.C738G:p.R246R, TOP1MT:uc011lkd.3:exon9:c.C738G:p.R246R,TOP1MT:uc011lkf.2:exon4:c.C417G:p.R139R,TOP1MT:uc003yxz.4:exon8:c.C1032G:p.R344R,TOP1MT:uc011lke.3:exon8:c.C738G:p.R246R,TOP1MT:uc010mfd.2:exon8:c.C417G:p.R139R, UNKNOWN Het;G>C 2993;134|138 Het;G>C 2049;98|90 Hom;G>C 5454;0|198 N N - 8 144406705 144406705 C T snp nonsynonymous SNV G472A V158I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TOP1MT Top1mt ENSG00000184428 topoisomerase (DNA) I, mitochondrial chr8:144386554-144442149 This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Acquired Immunodeficiency Syndrome|Disease Progression; esophageal adenocarcinoma Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. GO:0006260;DNA replication;IBA|GO:0006265;DNA topological change;IEA GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005739;mitochondrion;IEA|GO:0042645;mitochondrial nucleoid;IDA GO:0003677;DNA binding;IEA|GO:0003916;DNA topoisomerase activity;IEA|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOP1MT https://www.ncbi.nlm.nih.gov/omim/?term=606387 http://www.informatics.jax.org/searchtool/Search.do?query=TOP1MT&submit=Quick%0D%15204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP1MT rs11544484 0.275759 0.3541 0.2706 0.08 1 13 exonic exonic exonic TOP1MT TOP1MT ENSG00000184428 nonsynonymous SNV nonsynonymous SNV unknown TOP1MT:NM_052963:exon6:c.G766A:p.V256I,TOP1MT:NM_001258447:exon6:c.G472A:p.V158I,TOP1MT:NM_001258446:exon7:c.G472A:p.V158I, TOP1MT:uc011lkd.3:exon7:c.G472A:p.V158I,TOP1MT:uc011lkf.2:exon2:c.G151A:p.V51I,TOP1MT:uc003yxz.4:exon6:c.G766A:p.V256I,TOP1MT:uc011lke.3:exon6:c.G472A:p.V158I,TOP1MT:uc010mfd.2:exon6:c.G151A:p.V51I, UNKNOWN Het;C>T 1962;100|93 Het;C>T 1262;88|63 Hom;C>T 4153;0|152 N N - 8 144449708 144449708 G A snp ncRNA_exonic RHPN1-AS1 rs4874104 0.642173 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic RHPN1-AS1 RHPN1-AS1(uc011lkg.3:c.*628C>T) ENSG00000254389 Na Na Na Na Na Na Het;G>A 1819;80|77 Het;G>A 1354;47|60 Hom;G>A 3635;0|138 N N - 8 144458934 144458936 CTG C indel intronic RHPN1 Rhpn1 ENSG00000158106 rhophilin Rho GTPase binding protein 1 chr8:144451057-144466390 Homozygous null mice are albuminuric, show podocyte foot process effacement, thickening of the glomerular basement membrane, and focal segmental glomerulosclerosis lesions. RHO GTPases Activate Rhotekin and Rhophilins GO:0007165;signal transduction;IEA GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RHPN1 https://www.ncbi.nlm.nih.gov/omim/?term=601031 http://www.informatics.jax.org/searchtool/Search.do?query=RHPN1&submit=Quick%0D%10169ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN1 rs373671345 0 0 0 1 0 0 intronic intronic intronic RHPN1 RHPN1 ENSG00000158106 Na Na Na Na Na Na Het;-TG 173;5|6 Het;-TG 142;3|5 Hom;-TG 409;0|11 N N - 8 144463686 144463686 C T snp intronic RHPN1 Rhpn1 ENSG00000158106 rhophilin Rho GTPase binding protein 1 chr8:144451057-144466390 Homozygous null mice are albuminuric, show podocyte foot process effacement, thickening of the glomerular basement membrane, and focal segmental glomerulosclerosis lesions. RHO GTPases Activate Rhotekin and Rhophilins GO:0007165;signal transduction;IEA GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RHPN1 https://www.ncbi.nlm.nih.gov/omim/?term=601031 http://www.informatics.jax.org/searchtool/Search.do?query=RHPN1&submit=Quick%0D%10169ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN1 rs3817720 0.6248 0 0 1 0 0 intronic intronic intronic RHPN1 RHPN1 ENSG00000158106 Na Na Na Na Na Na Het;C>T 490;19|18 Het;C>T 151;16|8 Hom;C>T 637;0|20 N N - 8 144464254 144464254 C G snp intronic RHPN1 Rhpn1 ENSG00000158106 rhophilin Rho GTPase binding protein 1 chr8:144451057-144466390 Homozygous null mice are albuminuric, show podocyte foot process effacement, thickening of the glomerular basement membrane, and focal segmental glomerulosclerosis lesions. RHO GTPases Activate Rhotekin and Rhophilins GO:0007165;signal transduction;IEA GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RHPN1 https://www.ncbi.nlm.nih.gov/omim/?term=601031 http://www.informatics.jax.org/searchtool/Search.do?query=RHPN1&submit=Quick%0D%10169ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHPN1 rs6982270 0.76897 0 0 1 0 0 intronic intronic intronic RHPN1 RHPN1 ENSG00000158106 Na Na Na Na Na Na Het;C>G 83;2|3 Ref Hom;C>G 135;0|4 N N - 8 144942903 144942903 T C snp nonsynonymous SNV A4519G T1507A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral EPPK1 Eppk1 ENSG00000261150 epiplakin 1 chr8:144939497-144952632 The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] Mice homozygous for a null allele exhbit normal skin morphology. Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration. GO:0005856;cytoskeleton;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPPK1 https://www.ncbi.nlm.nih.gov/omim/?term=607553 http://www.informatics.jax.org/searchtool/Search.do?query=EPPK1&submit=Quick%0D%20399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPK1 rs6558399 0.685304 0.7702 0.7511 0.25 2 8 exonic exonic exonic EPPK1 EPPK1 ENSG00000227184 nonsynonymous SNV nonsynonymous SNV unknown EPPK1:NM_031308:exon2:c.A4519G:p.T1507A, EPPK1:uc003zaa.1:exon1:c.A4519G:p.T1507A, UNKNOWN Het;T>C 3059;109|120 Het;T>C 2035;75|82 Hom;T>C 5912;2|199 N N - 8 144946345 144946345 G A snp synonymous SNV C1077T A359A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EPPK1 Eppk1 ENSG00000261150 epiplakin 1 chr8:144939497-144952632 The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] Mice homozygous for a null allele exhbit normal skin morphology. Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration. GO:0005856;cytoskeleton;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPPK1 https://www.ncbi.nlm.nih.gov/omim/?term=607553 http://www.informatics.jax.org/searchtool/Search.do?query=EPPK1&submit=Quick%0D%20399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPK1 rs34753358 0.292532 0.3604 0.4877 1 0 0 exonic exonic exonic EPPK1 EPPK1 ENSG00000227184 synonymous SNV synonymous SNV unknown EPPK1:NM_031308:exon2:c.C1077T:p.A359A, EPPK1:uc003zaa.1:exon1:c.C1077T:p.A359A, UNKNOWN Het;G>A 1561;89|62 Het;G>A 2008;56|88 Hom;G>A 3236;0|115 N N - 8 145537374 145537374 G A snp intronic HSF1 Hsf1 ENSG00000185122 heat shock transcription factor 1 chr8:145515280-145538385 The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phsphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Aug 2016] prostate adenocarcinoma Inactivation of this gene results in female infertility. Additional abnormalities observed in one line of targeted mice include placental defects, growth retardation, loss of the classical heat shock response, and impaired immune response. HSF1-dependent transactivation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000165;MAPK cascade;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006810;transport;IEA|GO:0006952;defense response;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007143;female meiotic division;IEA|GO:0007283;spermatogenesis;IEA|GO:0007584;response to nutrient;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009299;mRNA transcription;IDA|GO:0009408;response to heat;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010667;negative regulation of cardiac muscle cell apoptotic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0032355;response to estradiol;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032720;negative regulation of tumor necrosis factor production;IEA|GO:0033574;response to testosterone;IEA|GO:0034605;cellular response to heat;IDA|GO:0034620;cellular response to unfolded protein;IDA|GO:0035690;cellular response to drug;IEA|GO:0035865;cellular response to potassium ion;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043200;response to amino acid;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043497;regulation of protein heterodimerization activity;IMP|GO:0043623;cellular protein complex assembly;IDA|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051028;mRNA transport;IEA|GO:0051260;protein homooligomerization;IDA|GO:0060136;embryonic process involved in female pregnancy;IEA|GO:0061408;positive regulation of transcription from RNA polymerase II promoter in response to heat stress;IDA|GO:0070207;protein homotrimerization;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071276;cellular response to cadmium ion;IDA|GO:0071280;cellular response to copper ion;IDA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071478;cellular response to radiation;IEA|GO:0071480;cellular response to gamma radiation;IDA|GO:0072738;cellular response to diamide;IDA|GO:0090084;negative regulation of inclusion body assembly;IEA|GO:0090261;positive regulation of inclusion body assembly;IEA|GO:1900034;regulation of cellular response to heat;TAS|GO:1900365;positive regulation of mRNA polyadenylation;IMP|GO:1901215;negative regulation of neuron death;IEA|GO:1901652;response to peptide;IEA|GO:1902512;positive regulation of apoptotic DNA fragmentation;IEA|GO:1903936;cellular response to sodium arsenite;IDA|GO:1904385;cellular response to angiotensin;IEA|GO:1904528;positive regulation of microtubule binding;IEA|GO:1904843;cellular response to nitroglycerin;IEA|GO:1904845;cellular response to L-glutamine;IEA|GO:1990910;response to hypobaric hypoxia;IEA|GO:1990911;response to psychosocial stress;IEA|GO:2001033;negative regulation of double-strand break repair via nonhomologous end joining;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000791;euchromatin;IEA|GO:0000792;heterochromatin;IEA|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016605;PML body;IDA|GO:0043234;protein complex;IEA|GO:0045120;pronucleus;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097165;nuclear stress granule;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990904;ribonucleoprotein complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001162;RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031072;heat shock protein binding;IDA|GO:0031490;chromatin DNA binding;IDA|GO:0042802;identical protein binding;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0043621;protein self-association;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0051879;Hsp90 protein binding;IDA|GO:0061770;translation elongation factor binding;IDA|GO:0097677;STAT family protein binding;IEA|GO:0098847;sequence-specific single stranded DNA binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HSF1 https://www.ncbi.nlm.nih.gov/omim/?term=140580 http://www.informatics.jax.org/searchtool/Search.do?query=HSF1&submit=Quick%0D%15348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSF1 Na 0 0 0 1 0 0 intronic intronic intronic HSF1 HSF1 ENSG00000185122 Na Na Na Na Na Na Het;G>A 281;8|8 Ref Hom;G>A 197;0|5 N N - 8 14562412 14562412 A G snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs7009140 0.330671 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;A>G 367;17|20 Het;A>G 873;42|46 Hom;A>G 2297;0|85 N N - 8 14562501 14562501 G T snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs12675184 0.29992 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;G>T 193;11|9 Het;G>T 527;27|24 Hom;G>T 1385;0|52 N N - 8 14562527 14562527 A C snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs12681568 0.301118 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;A>C 152;8|6 Het;A>C 199;22|10 Hom;A>C 1090;0|38 N N - 8 145639726 145639726 T C snp nonsynonymous SNV A241G T81A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SLC39A4 Slc39a4 ENSG00000147804 solute carrier family 39 member 4 chr8:145635126-145642279 This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] Abortion, Spontaneous Mice homozygous for a null allele exhibit embryonic letahlity around E10. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency. Zinc influx into cells by the SLC39 gene family GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006829;zinc II ion transport;IEA|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007165;signal transduction;IBA|GO:0030001;metal ion transport;IEA|GO:0034224;cellular response to zinc ion starvation;IEA|GO:0055085;transmembrane transport;IEA|GO:0071578;zinc II ion transmembrane import;IBA GO:0005768;endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0055038;recycling endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005385;zinc ion transmembrane transporter activity;TAS|GO:0046873;metal ion transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC39A4 https://www.uniprot.org/uniprot/Q6P5W5 https://hpo.jax.org/app/browse/search?q=SLC39A4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607059 http://www.informatics.jax.org/searchtool/Search.do?query=SLC39A4&submit=Quick%0D%9048ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC39A4 rs2272662 0.39357 0.4314 0.5491 0.08 1 13 exonic exonic exonic SLC39A4 SLC39A4 ENSG00000147804 nonsynonymous SNV nonsynonymous SNV unknown SLC39A4:NM_130849:exon6:c.A1069G:p.T357A,SLC39A4:NM_017767:exon5:c.A994G:p.T332A, SLC39A4:uc003zco.3:exon2:c.A241G:p.T81A,SLC39A4:uc003zcq.3:exon6:c.A1069G:p.T357A,SLC39A4:uc003zcp.3:exon5:c.A994G:p.T332A, UNKNOWN Het;T>C 1332;55|65 Het;T>C 494;49|27 Hom;T>C 2616;0|93 N N - 8 14968834 14968834 A C snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs7827568 0.48143 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;A>C 51;1|3 Ref Hom;A>C 71;0|4 N N - 8 15010760 15010763 AAAC A indel intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs149572596 0.426717 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;-AAC 164;3|5 Het;-AAC 35;4|2 Hom;-AAC 413;0|10 N N - 8 15011072 15011072 C T snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs268375 0.713259 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;C>T 512;11|18 Het;C>T 188;5|8 Hom;C>T 631;0|18 N N - 8 15021838 15021838 A G snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs268410 0.927117 0 0 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;A>G 121;1|6 Ref Hom;A>G 120;0|6 N N - 8 15095085 15095085 C G snp intronic SGCZ Sgcz ENSG00000185053 sarcoglycan zeta chr8:13947373-15095848 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Iron; Myocardial Infarction; Hip; Echocardiography; Parkinson Disease; Cholesterol; Apolipoproteins E; Platelet Count; smoking cessation; Body Weight Changes; Triglycerides; Coronary Artery Disease; monocyte chemoattractant protein 1 (66-77); Calcium; Tunica Media; Socioeconomic Factors; Cholesterol, HDL; Body Weight; Receptors, Tumor Necrosis Factor, Type II; Occipital Lobe; Glomerular Filtration Rate; Platelet Aggregation; Heart Rate; Muscular Dystrophies, Limb-Girdle; Eosinophils; Exercise Test; Prostatic Neoplasms; Waist Circumference; Tobacco Use Disorder; Cholesterol, LDL; Lipids; Diabetes Mellitus; Lipoproteins, VLDL; Alcoholism; Brain GO:0007517;muscle organ development;IBA|GO:0046716;muscle cell cellular homeostasis;TAS|GO:0048738;cardiac muscle tissue development;IBA|GO:0055001;muscle cell development;TAS|GO:0060047;heart contraction;IBA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016012;sarcoglycan complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042383;sarcolemma;IEA http://www.genecards.org/index.php?path=/Search/keyword/SGCZ https://www.ncbi.nlm.nih.gov/omim/?term=608113 http://www.informatics.jax.org/searchtool/Search.do?query=SGCZ&submit=Quick%0D%15334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGCZ rs4831331 0.483626 0.6002 0.5153 1 0 0 intronic intronic intronic SGCZ SGCZ ENSG00000185053 Na Na Na Na Na Na Het;C>G 1535;72|72 Het;C>G 572;51|31 Hom;C>G 2559;0|94 N N - 8 16085406 16085406 G A snp intronic MSR1 Msr1 ENSG00000038945 macrophage scavenger receptor 1 chr8:15965387-16424999 This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008] Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2; chronic obstructive pulmonary disease; Atherosclerosis; Chronic Obstructive Pulmonary Disease; atherosclerosis; smoking cessation; Type 2 Diabetes| edema | rosiglitazone; Cholesterol; lung cancer ; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease ; lung cancer; Coronary Disease|Coronary heart disease; Tobacco Use Disorder; bladder cancer; prostate cancer Mice homozygous for a knock-out allele exhibit abnormal uptake and degradation of acetylated low density lipoproteins by macrophages, increased interleukin-12 secretion in response to CpG oligodeoxynucleotide administration, and increased bacterial and viral infection induced morbidity/mortality. Scavenging by Class A Receptors GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0010744;positive regulation of macrophage derived foam cell differentiation;ISS|GO:0010886;positive regulation of cholesterol storage;IEA|GO:0030301;cholesterol transport;ISS|GO:0034381;plasma lipoprotein particle clearance;ISS|GO:0042953;lipoprotein transport;IEA|GO:0071407;cellular response to organic cyclic compound;IEA GO:0005581;collagen trimer;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0034362;low-density lipoprotein particle;IEA GO:0005044;scavenger receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MSR1 https://www.uniprot.org/uniprot/P21757 https://hpo.jax.org/app/browse/search?q=MSR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=153622 http://www.informatics.jax.org/searchtool/Search.do?query=MSR1&submit=Quick%0D%805ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MSR1 rs11986002 0.729832 0 0 1 0 0 intergenic intergenic intronic MSR1(dist=35106),FGF20(dist=764928) MSR1(dist=35106),FGF20(dist=764928) ENSG00000038945 Na Na Na Na Na Na Het;G>A 285;31|16 Ref Hom;G>A 1395;0|56 N N - 8 16535382 16535382 C T snp ncRNA_intronic AC068992.1 rs4922125 0.473642 0 0 1 0 0 intergenic intergenic ncRNA_intronic MSR1(dist=485082),FGF20(dist=314952) MSR1(dist=485082),FGF20(dist=314952) ENSG00000253496 Na Na Na Na Na Na Het;C>T 78;2|3 Het;C>T 147;3|5 Hom;C>T 201;0|6 N N - 8 16684886 16684886 C T snp ncRNA_intronic AC068992.1 rs612226 0.779353 0 0 1 0 0 intergenic intergenic ncRNA_intronic MSR1(dist=634586),FGF20(dist=165448) MSR1(dist=634586),FGF20(dist=165448) ENSG00000253496 Na Na Na Na Na Na Het;C>T 225;7|8 Het;C>T 250;10|9 Hom;C>T 498;0|17 N N - 8 16685153 16685153 T TATAC indel ncRNA_intronic AC068992.1 rs10626508 0.738818 0 0 1 0 0 intergenic intergenic ncRNA_intronic MSR1(dist=634853),FGF20(dist=165181) MSR1(dist=634853),FGF20(dist=165181) ENSG00000253496 Na Na Na Na Na Na Het;+ATAC 293;2|8 Ref Hom;+ATAC 188;0|5 N N - 8 16685156 16685156 G GTA indel ncRNA_intronic AC068992.1 rs371657788 0.738818 0 0 1 0 0 intergenic intergenic ncRNA_intronic MSR1(dist=634856),FGF20(dist=165178) MSR1(dist=634856),FGF20(dist=165178) ENSG00000253496 Na Na Na Na Na Na Het;+TA 251;2|7 Ref Hom;+TA 188;0|5 N N - 8 16685170 16685170 G A snp ncRNA_intronic AC068992.1 rs2640903 0.798522 0 0 1 0 0 intergenic intergenic ncRNA_intronic MSR1(dist=634870),FGF20(dist=165164) MSR1(dist=634870),FGF20(dist=165164) ENSG00000253496 Na Na Na Na Na Na Het;G>A 137;1|4 Ref Hom;G>A 197;0|4 N N - 8 1712049 1712049 C T snp UTR5 -7172C>T CLN8 Cln8 ENSG00000278220 CLN8, transmembrane ER and ERGIC protein chr8:1703944-1734738 This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008] Neuronal Ceroid-Lipofuscinoses; Gaucher Disease Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age. GO:0006644;phospholipid metabolic process;IMP|GO:0006672;ceramide metabolic process;IMP|GO:0006869;lipid transport;NAS|GO:0007399;nervous system development;IMP|GO:0008203;cholesterol metabolic process;IMP|GO:0008610;lipid biosynthetic process;NAS|GO:0030163;protein catabolic process;NAS|GO:0045861;negative regulation of proteolysis;NAS|GO:0046513;ceramide biosynthetic process;NAS GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0098793;presynapse;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLN8 https://hpo.jax.org/app/browse/search?q=CLN8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607837 http://www.informatics.jax.org/searchtool/Search.do?query=CLN8&submit=Quick%0D%21993ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLN8 rs113428006 0.081869 0 0 1 0 0 UTR5 UTR5 ncRNA_intronic CLN8(NM_018941:c.-7172C>T) CLN8(uc003wpo.4:c.-7172C>T) ENSG00000253982 Na Na Na Na Na Na Het;C>T 183;13|10 Het;C>T 148;12|9 Hom;C>T 666;0|27 N N - 8 17157259 17157259 G A snp UTR3 *112C>T MTMR7 Mtmr7 ENSG00000003987 myotubularin related protein 7 chr8:17155539-17271037 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009] Creutzfeldt-Jakob Syndrome; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Cholesterol; Body Weight Changes Synthesis of IP2, IP, and Ins in the cytosol GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046855;inositol phosphate dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR7 https://www.uniprot.org/uniprot/Q9Y216 https://www.ncbi.nlm.nih.gov/omim/?term=603562 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR7&submit=Quick%0D%310ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR7 rs6992513 0.773962 0 0 1 0 0 UTR3 UTR3 UTR3 MTMR7(NM_004686:c.*112C>T) MTMR7(uc011kya.2:c.*112C>T,uc011kyb.2:c.*112C>T,uc003wxm.3:c.*112C>T) ENSG00000003987(ENST00000180173:c.*112C>T,ENST00000398099:c.*112C>T) Na Na Na Na Na Na Het;G>A 354;6|11 Het;G>A 201;4|7 Hom;G>A 502;0|14 N N - 8 17159812 17159812 G A snp intronic MTMR7 Mtmr7 ENSG00000003987 myotubularin related protein 7 chr8:17155539-17271037 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009] Creutzfeldt-Jakob Syndrome; Cholesterol, LDL; Tobacco Use Disorder; Body Mass Index; Cholesterol; Body Weight Changes Synthesis of IP2, IP, and Ins in the cytosol GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046855;inositol phosphate dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR7 https://www.uniprot.org/uniprot/Q9Y216 https://www.ncbi.nlm.nih.gov/omim/?term=603562 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR7&submit=Quick%0D%310ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR7 rs6587028 0.767971 0.7348 0.7053 1 0 0 intronic intronic intronic MTMR7 MTMR7 ENSG00000003987 Na Na Na Na Na Na Het;G>A 1155;48|47 Het;G>A 824;43|37 Hom;G>A 2607;0|92 N N - 8 17453739 17453739 C T snp intronic PDGFRL Pdgfrl ENSG00000104213 platelet derived growth factor receptor like chr8:17433942-17501580 This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] Cholesterol; Body Mass Index; Hemoglobins GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0004992;platelet activating factor receptor activity;TAS|GO:0005019;platelet-derived growth factor beta-receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PDGFRL https://www.uniprot.org/uniprot/Q15198 https://hpo.jax.org/app/browse/search?q=PDGFRL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604584 http://www.informatics.jax.org/searchtool/Search.do?query=PDGFRL&submit=Quick%0D%3089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDGFRL rs62498033 0.179513 0 0 1 0 0 intronic intronic intronic PDGFRL PDGFRL ENSG00000104213 Na Na Na Na Na Na Het;C>T 555;34|25 Het;C>T 483;30|21 Hom;C>T 1621;0|57 N N - 8 17726019 17726019 A G snp intronic FGL1 Fgl1 ENSG00000104760 fibrinogen like 1 chr8:17721889-17767874 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; longevity; Coronary Disease|Coronary heart disease; hepatocellular carcinoma; Type 2 Diabetes| edema | rosiglitazone; hepatitis C Mice homozygous for one null allele exhibit increased body weight, white fat and gluconeogenesis, decreased circulating cholesterol, free fatty acid level and respiratory quotient, hyperglycemia, and impaired glucose tolerance. Mice homozygous for a second null allele display normal appearance with age-related onset of dermatitis. GO:0005576;extracellular region;IEA|GO:0005577;fibrinogen complex;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/FGL1 https://www.uniprot.org/uniprot/Q08830 https://www.ncbi.nlm.nih.gov/omim/?term=605776 http://www.informatics.jax.org/searchtool/Search.do?query=FGL1&submit=Quick%0D%3160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGL1 rs10112643 0.395966 0.5428 0.5552 1 0 0 intronic intronic intronic FGL1 FGL1 ENSG00000104760 Na Na Na Na Na Na Het;A>G 260;6|11 Het;A>G 142;11|7 Hom;A>G 596;0|20 N N - 8 17739538 17739538 T C snp nonsynonymous SNV A214G I72V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FGL1 Fgl1 ENSG00000104760 fibrinogen like 1 chr8:17721889-17767874 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; longevity; Coronary Disease|Coronary heart disease; hepatocellular carcinoma; Type 2 Diabetes| edema | rosiglitazone; hepatitis C Mice homozygous for one null allele exhibit increased body weight, white fat and gluconeogenesis, decreased circulating cholesterol, free fatty acid level and respiratory quotient, hyperglycemia, and impaired glucose tolerance. Mice homozygous for a second null allele display normal appearance with age-related onset of dermatitis. GO:0005576;extracellular region;IEA|GO:0005577;fibrinogen complex;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/FGL1 https://www.uniprot.org/uniprot/Q08830 https://www.ncbi.nlm.nih.gov/omim/?term=605776 http://www.informatics.jax.org/searchtool/Search.do?query=FGL1&submit=Quick%0D%3160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGL1 rs3739406 0.412141 0.5554 0.5552 0.08 1 13 exonic exonic exonic FGL1 FGL1 ENSG00000104760 nonsynonymous SNV nonsynonymous SNV unknown FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V,FGL1:NM_004467:exon3:c.A214G:p.I72V, FGL1:uc003wxy.3:exon3:c.A214G:p.I72V,FGL1:uc003wya.3:exon4:c.A214G:p.I72V,FGL1:uc003wye.3:exon5:c.A364G:p.I122V,FGL1:uc003wxx.3:exon4:c.A214G:p.I72V,FGL1:uc003wyb.3:exon3:c.A214G:p.I72V, UNKNOWN Het;T>C 697;44|33 Het;T>C 450;29|23 Hom;T>C 1864;0|70 N N - 8 17742929 17742929 A G snp intronic FGL1 Fgl1 ENSG00000104760 fibrinogen like 1 chr8:17721889-17767874 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; longevity; Coronary Disease|Coronary heart disease; hepatocellular carcinoma; Type 2 Diabetes| edema | rosiglitazone; hepatitis C Mice homozygous for one null allele exhibit increased body weight, white fat and gluconeogenesis, decreased circulating cholesterol, free fatty acid level and respiratory quotient, hyperglycemia, and impaired glucose tolerance. Mice homozygous for a second null allele display normal appearance with age-related onset of dermatitis. GO:0005576;extracellular region;IEA|GO:0005577;fibrinogen complex;TAS|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/FGL1 https://www.uniprot.org/uniprot/Q08830 https://www.ncbi.nlm.nih.gov/omim/?term=605776 http://www.informatics.jax.org/searchtool/Search.do?query=FGL1&submit=Quick%0D%3160ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FGL1 rs2073562 0.388978 0 0 1 0 0 intronic intronic intronic FGL1 FGL1 ENSG00000104760 Na Na Na Na Na Na Het;A>G 188;20|10 Het;A>G 361;9|14 Hom;A>G 892;0|26 N N - 8 1791433 1791433 C T snp intronic ARHGEF10 Arhgef10 ENSG00000274726 Rho guanine nucleotide exchange factor 10 chr8:1772142-1906807 This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Electrocardiography; null Mice homozygous for a knock-out allele exhibit social deficits, hyperactivity, reduced anxiety-like and depression-like behavior, and increased serotonin, norepinephrine, and dopamine levels in different brain regions. G alpha (12/13) signalling events GO:0022011;myelination in peripheral nervous system;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051298;centrosome duplication;IMP|GO:0051496;positive regulation of stress fiber assembly;IMP|GO:0090307;mitotic spindle assembly;IMP|GO:0090630;activation of GTPase activity;IDA GO:0005813;centrosome;IDA|GO:0005829;cytosol;NAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF10 https://www.uniprot.org/uniprot/O15013 https://hpo.jax.org/app/browse/search?q=ARHGEF10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608136 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF10&submit=Quick%0D%21183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF10 rs11136431 0.422324 0 0 1 0 0 intronic intronic intronic ARHGEF10 ARHGEF10 ENSG00000104728 Na Na Na Na Na Na Het;C>T 347;16|14 Het;C>T 92;10|6 Hom;C>T 556;0|17 N N - 8 17945990 17945990 T G snp ncRNA_intronic LOC101929066 rs4921847 0.188698 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101929066 ASAH1(dist=3483),NAT1(dist=81981) ENSG00000245281 Na Na Na Na Na Na Het;T>G 1040;28|46 Het;T>G 942;23|44 Hom;T>G 1885;1|73 N N - 8 18308476 18308476 A G snp intergenic NAT2 Nat1 ENSG00000156006 N-acetyltransferase 2 chr8:18248755-18258728 This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008] Human Longevity; Infection|Inflammation|Premature Birth; chemical-related sensitivity; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Abnormalities, Drug-Induced|Cleft Lip|Cleft Palate; Brain Neoplasms; Parkinson's Disease; urothelial cancer; multiple myeloma; Colorectal Cancer; Presbycusis| Hearing Loss; colorectal cancer; Chronic renal failure|Kidney Failure, Chronic; tuberculosis; esophageal cancer; Alcoholic Liver Diseases|Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver Diseases, Alcoholic|Liver neoplasms; lymphoma; normal variation; Atopy; liver cancer; Cleft Lip|Cleft Palate|Congenital Abnormalities; Drug-Induced Liver Injury|Hepatitis, Toxic; Breast cancer; Ovarian Failure, Premature; Colorectal Neoplasms|Rectal Neoplasms|Sigmoid Neoplasms; Diabetes mellitus; Colorectal Neoplasms; laryngeal cancer; Bladder Cancer; chronic obstructive pulmonary disease/COPD; Breast Cancer; Psoriasis; Urinary Bladder Neoplasms; Esophageal Neoplasms|Stomach Neoplasms; Drug-Induced Liver Injury|Tuberculosis, Pulmonary; Dermatitis, Allergic Contact; Colon Cancer; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Adenoma|Colorectal Neoplasms|; Prostatic Neoplasms; Drug-Induced Liver Injury; cholangiocarcinoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Multiple Chemical Sensitivity; Lupus Erythematosus, Systemic|Pneumonia, Pneumocystis|Pneumonia, Pneumocystis carinii|Systemic lupus erythematosus; Parkinson Disease; Scleroderma, Systemic|Systemic Scleroderma; Carcinoma, Renal Cell|Diabetes mellitus|Hypertension|Renal Cell Carcinoma; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; Carcinoma, Hepatocellular|Hepatitis, Chronic|LCC - Liver cell carcinoma|Liver Cirrhosis|Liver neoplasms; Dermatitis, Atopic|Eczema allergic; Adenomatous Polyposis Coli|Colorectal Neoplasms; Brain Neoplasms|Glioma; multiple chemical sensitivity; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Laryngeal neoplasm|Laryngeal Neoplasms; Aneuploidy|Chromosome Aberrations|Chromosome abnormality|Trisomy; Lymphoma, Non-Hodgkin; Cataract; null; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Cell Transformation, Neoplastic|DNA Damage|Lung Neoplasms|Neoplasm of lung ; Alzheimer Disease|Dementia|Neurodegenerative Diseases|Parkinson Disease; preterm delivery; cervical cancer; Polymyalgia Rheumatica|Thyroid Neoplasms; Behcet Syndrome; Mouth Neoplasms; endometriosis; Kidney Neoplasms; Crohn's disease; ulcerative colitis; Pulmonary Disease, Chronic Obstructive; Diabetes Mellitus; sulfasalazine; CYP3A4 activity; diabetes, type 1; Tuberculosis, Pulmonary; Spinal Dysraphism; Inflammatory Bowel Diseases; Cholesterol; 2-Amino-1-methyl-6-phenylimidazo[4,5-b]pyridine; asbestos-associated pulmonary disorders; pharmacogenetic studies; Type 2 Diabetes| edema | rosiglitazone; bladder cancer; prostate cancer; sulfasalazine, adverse effects of; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Astrocytoma|Brain Neoplasms|Meningeal Neoplasms|meningioma; periodontitis; prostate cancer; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; atherosclerosis; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms; cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;; Endometriosis; Genomic Instability|Mesothelioma|Pleural Neoplasms; Hearing Disorders|Hearing Loss, High-Frequency|Hearing problem; GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous; 1-hydroxypyrene, urinary; 2-naphtol; xenobiotic metabolism; Leukemia, Myeloid, Acute; cancer susceptibility; Esophageal Cancer; Tuberculosis; Mesothelioma|Occupational Diseases|Pleural Neoplasms; esophageal adenocarcinoma; non-Hodgkin's lymphoma; Lung Cancer; tobacco consumption; sulphamethoxazole hypersensitivity; Chromosome Aberrations|DNA Damage; Chromosome Aberrations; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; metabolism of toluene di-isocyanate; Clubfoot; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; Lung Neoplasms|Neoplasm of lung ; bladder cancer; Adenocarcinoma|Stomach Neoplasms; Drug-Induced Liver Injury|Liver Diseases|Tuberculosis, Pulmonary; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; smoking; lung cancer; drug-related genes ; Stomach Neoplasms; Alzheimer's disease; asthma; Asthma; Asthma|; pharmacogenetic variation; colorectal cancer Crohn's disease ulcerative colitis; Carcinoma, Squamous Cell|Mouth Neoplasms|Oropharyngeal Neoplasms; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Leukemia, Myeloid; breast cancer; limb deficiency defects; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Cleft Lip|Cleft Palate; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; Bladder Neoplasm|Urinary Bladder Neoplasms; mutagen sensitivity; leukemia, childhood acute lymphoblastic; Haematological Neoplasias; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Parkinson's disease; Microsatellite Instability|Rectal Neoplasms; Neoplasms; Birth Weight|Chromosome Aberrations|Chromosome abnormality|DNA Damage|Tobacco Use Disorder; Metabolism; Cigarette Smoking- Related Bladder Cancer; stomach cancer; Drug-Induced Liver Injury|Tuberculosis; Carcinoma, Transitional Cell|Urologic Neoplasms; esophageal cancer; systemic lupus erythematosus; Drug-Induced Liver Injury|Hepatitis, Toxic|Tuberculosis, Pulmonary; rheumatoid arthritis; nasopharyngeal cancer; Lupus Erythematosus, Systemic; Drug Hypersensitivity|HIV Infections|[X]Human immunodeficiency virus disease; Jaw Abnormalities; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; hypercholesterolemia; H. pylori infection; coagulation disorder; Food Hypersensitivity; Carcinoma, Hepatocellular|Liver Diseases|Liver Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Adenomatous Polyposis Coli|Colorectal Neoplasms|Neoplasm Recurrence, Local; fetal loss, late; alcohol; Pancreatic Neoplasms; Colonic Neoplasms|Microsatellite Instability; ovarian cancer ; Chronic ulcerative colitis|Colitis, Ulcerative; sleep disorders; schizophrenia; body mass; urinary mutagenicity; Urinary Bladder Cancer; Neural Tube Defects; Cell Cancer; cytogenetic studies; plasma glucose concentration; Adenoma|Colorectal Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; 1-hydroxypyrene, urinary; Carcinoma, Papillary|Thyroid Neoplasms; Drug-Induced Liver Injury|Hepatitis, Toxic|Tuberculosis; Contact Sensitisation; lung cancer ; preeclampsia; Colonic Neoplasms; Colonic Polyps; DNA strand breakage; pancreatic cancer; colon polyps; Triglycerides; Leukemia, Lymphocytic, Chronic, B-Cell; asthma; cancer; HIV infection; DNA adducts; motor neuron disease; breast cancer; thiopurine methyltransferase activity; malignant mesothelioma; patent ductus arteriosus; Head and Neck Neoplasms|Neoplasms, Multiple Primary; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; Dermatitis, Occupational|; Inflammation|Premature Birth; Rhinitis, Allergic, Perennial; Arthritis, Rheumatoid|Rheumatoid Arthritis; head and neck cancer; Leukoplakia, Oral|Mouth Neoplasms; macular degeneration; dementia Inactivation of this gene does not result in an overt phenotype. Acetylation GO:0006805;xenobiotic metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0015807;L-amino acid transport;IEA|GO:1902475;L-alpha-amino acid transmembrane transport;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004060;arylamine N-acetyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0015179;L-amino acid transmembrane transporter activity;IEA|GO:0016407;acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAT2 https://www.uniprot.org/uniprot/P11245 https://www.ncbi.nlm.nih.gov/omim/?term=612182 http://www.informatics.jax.org/searchtool/Search.do?query=NAT2&submit=Quick%0D%9927ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAT2 rs4921602 0.28115 0 0 1 0 0 intergenic intergenic intergenic NAT2(dist=49753),PSD3(dist=76337) NAT2(dist=49753),PSD3(dist=76337) ENSG00000156006(dist=49748),ENSG00000156011(dist=76335) Na Na Na Na Na Na Het;A>G 673;28|33 Het;A>G 577;44|29 Hom;A>G 2193;0|84 N N - 8 18666210 18666210 G A snp intronic PSD3 Psd3 ENSG00000156011 pleckstrin and Sec7 domain containing 3 chr8:18384811-18942240 Carcinoma, Squamous Cell|Esophageal Neoplasms; Hip; Cholesterol, LDL; Tobacco Use Disorder; prostate cancer; Neutrophils; Stroke; Memory GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032587;ruffle membrane;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD3 https://www.uniprot.org/uniprot/Q9NYI0 https://www.ncbi.nlm.nih.gov/omim/?term=614440 http://www.informatics.jax.org/searchtool/Search.do?query=PSD3&submit=Quick%0D%9929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD3 rs2638653 0.464257 0.5543 0 1 0 0 intronic intronic intronic PSD3 PSD3 ENSG00000156011 Na Na Na Na Na Na Het;G>A 970;60|44 Het;G>A 1068;53|51 Hom;G>A 1867;2|72 N N - 8 20007100 20007102 CCT C indel intronic SLC18A1 Slc18a1 ENSG00000036565 solute carrier family 18 member A1 chr8:20002366-20040717 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008] triglycerides; anxiety-related personality traits; reward dependence temperament; Weight Gain; major depressive disorder (broad); schizophrenia; bipolar disorder; Bulimia; Narcolepsy Mice homozygous for a knock-out allele exhibit increased neuron apoptosis, decreased neuron proliferation and impaired spatial object recognition. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006837;serotonin transport;IEA|GO:0006855;drug transmembrane transport;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IBA|GO:0015844;monoamine transport;TAS|GO:0015893;drug transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS|GO:0098793;presynapse;IEA GO:0008504;monoamine transmembrane transporter activity;TAS|GO:0015222;serotonin transmembrane transporter activity;IBA|GO:0015238;drug transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC18A1 https://www.uniprot.org/uniprot/P54219 https://www.ncbi.nlm.nih.gov/omim/?term=193002 http://www.informatics.jax.org/searchtool/Search.do?query=SLC18A1&submit=Quick%0D%784ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC18A1 rs60330468 0 0 0 1 0 0 intronic intronic intronic SLC18A1 SLC18A1 ENSG00000036565 Na Na Na Na Na Na Het;-CT 236;6|7 Ref Hom;-CT 717;0|16 N N - 8 2044046 2044046 A G snp intronic MYOM2 Myom2 ENSG00000274137 myomesin 2 chr8:1993155-2113475 The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MYOM2 https://www.uniprot.org/uniprot/P54296 https://www.ncbi.nlm.nih.gov/omim/?term=603509 http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2 rs58868465 0.256589 0.1932 0.1652 1 0 0 intronic intronic intronic MYOM2 MYOM2 ENSG00000036448 Na Na Na Na Na Na Het;A>G 278;18|11 Het;A>G 235;19|10 Hom;A>G 750;0|22 N N - 8 2048831 2048831 A G snp nonsynonymous SNV A881G N294S polar,hydrophilic,neutral polar,hydrophilic,neutral MYOM2 Myom2 ENSG00000274137 myomesin 2 chr8:1993155-2113475 The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] Hematocrit; Erythrocyte Count; Respiratory Function Tests; Cholesterol; Emphysema; Lipoproteins; Stroke; Cholesterol, LDL GO:0006936;muscle contraction;TAS|GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IEA|GO:0032982;myosin filament;IEA GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS|GO:0019900;kinase binding;IPI|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/MYOM2 https://www.uniprot.org/uniprot/P54296 https://www.ncbi.nlm.nih.gov/omim/?term=603509 http://www.informatics.jax.org/searchtool/Search.do?query=MYOM2&submit=Quick%0D%21051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOM2 rs968381 0.460463 0.4368 0.3753 1 0 0 exonic exonic exonic MYOM2 MYOM2 ENSG00000036448 nonsynonymous SNV nonsynonymous SNV unknown MYOM2:NM_003970:exon20:c.A2606G:p.N869S, MYOM2:uc011kwi.2:exon7:c.A881G:p.N294S,MYOM2:uc003wpx.4:exon20:c.A2606G:p.N869S, UNKNOWN Het;A>G 1164;52|46 Het;A>G 1027;37|43 Hom;A>G 3079;0|71 N N - 8 21219 21219 A C snp intergenic NONE rs573635409 0.0732827 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),OR4F21(dist=94867) NONE(dist=NONE),OR4F21(dist=94867) ENSG00000253620(dist=6899),ENSG00000253896(dist=1382) Na Na Na Na Na Na Het;A>C 636;94|40 Het;A>C 396;103|30 Hom;A>C 1986;1|74 N N - 8 22419191 22419191 T C snp UTR3 *171T>C SORBS3 Sorbs3 ENSG00000120896 sorbin and SH3 domain containing 3 chr8:22402499-22433301 This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Blood Pressure Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo. Smooth Muscle Contraction GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007155;cell adhesion;TAS|GO:0031589;cell-substrate adhesion;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0051495;positive regulation of cytoskeleton organization;NAS|GO:0051496;positive regulation of stress fiber assembly;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IEA|GO:0030054;cell junction;IEA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0017166;vinculin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SORBS3 https://www.uniprot.org/uniprot/O60504 https://www.ncbi.nlm.nih.gov/omim/?term=610795 http://www.informatics.jax.org/searchtool/Search.do?query=SORBS3&submit=Quick%0D%5263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS3 rs2469764 0.773562 0 0 1 0 0 intronic intronic UTR3 SORBS3 SORBS3 ENSG00000120896(ENST00000523402:c.*171T>C) Na Na Na Na Na Na Het;T>C 198;8|7 Ref Hom;T>C 84;0|3 N N - 8 22452357 22452357 G T snp UTR3 *195G>T PDLIM2 Pdlim2 ENSG00000120913 PDZ and LIM domain 2 chr8:22435792-22455538 This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Mice homozygous for a knock-out allele display increased IFN-gamma production by Th1 cells and an enhanced inflammatory response to in vivo challenge with heat-killed Listeria monocytogenes. GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDLIM2 https://www.uniprot.org/uniprot/Q96JY6 https://www.ncbi.nlm.nih.gov/omim/?term=609722 http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM2&submit=Quick%0D%5268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM2 rs11782130 0.336262 0 0 1 0 0 UTR3 UTR3 UTR3 PDLIM2(NM_176871:c.*195G>T) PDLIM2(uc003xcc.2:c.*195G>T) ENSG00000120913(ENST00000265810:c.*195G>T) Na Na Na Na Na Na Het;G>T 76;2|3 Ref Hom;G>T 108;0|5 N N - 8 23152520 23152520 A T snp ncRNA_exonic BC128546 rs11779464 0.576078 0 0 1 0 0 intronic ncRNA_exonic intronic R3HCC1 BC128546 ENSG00000104679 Na Na Na Na Na Na Het;A>T 85;7|4 Ref Hom;A>T 82;0|3 N N - 8 23536560 23536563 CTTT C indel UTR3 *2174_*2171delinsG NKX3-1 Nkx3-1 ENSG00000167034 NK3 homeobox 1 chr8:23536206-23540440 This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012] prostate cancer; prostatic hyperplasia; Lipoproteins, LDL; Bone Mineral Density Homozygotes for targeted null mutations exhibit reduced minor salivary glands with altered duct morphology, altered prostate ductal morphogenesis, and prostate epithelial hyperplasia and neoplasia. Heterozygotes develop neoplastic foci. GO:0001655;urogenital system development;IEA|GO:0001656;metanephros development;IEA|GO:0001756;somitogenesis;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0007275;multicellular organism development;TAS|GO:0007431;salivary gland development;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008584;male gonad development;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010942;positive regulation of cell death;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0030521;androgen receptor signaling pathway;IDA|GO:0030850;prostate gland development;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0033574;response to testosterone;IEA|GO:0035690;cellular response to drug;IEP|GO:0035907;dorsal aorta development;IEA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043491;protein kinase B signaling;IMP|GO:0043569;negative regulation of insulin-like growth factor receptor signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051781;positive regulation of cell division;IMP|GO:0060037;pharyngeal system development;IEA|GO:0060442;branching involved in prostate gland morphogenesis;IEA|GO:0060664;epithelial cell proliferation involved in salivary gland morphogenesis;IEA|GO:0060770;negative regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0071347;cellular response to interleukin-1;IEP|GO:0071356;cellular response to tumor necrosis factor;IEP|GO:0071383;cellular response to steroid hormone stimulus;IDA|GO:0071456;cellular response to hypoxia;IDA|GO:0071850;mitotic cell cycle arrest;IDA|GO:0071899;negative regulation of estrogen receptor binding;IDA|GO:2000836;positive regulation of androgen secretion;IDA|GO:2001022;positive regulation of response to DNA damage stimulus;IDA|GO:2001235;positive regulation of apoptotic signaling pathway;IDA|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IDA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IC GO:0000976;transcription regulatory region sequence-specific DNA binding;IDA|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;IEA|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0004882;androgen receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;IDA|GO:0030284;estrogen receptor activity;IDA|GO:0030295;protein kinase activator activity;IDA|GO:0030331;estrogen receptor binding;IDA|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0043621;protein self-association;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0097162;MADS box domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NKX3-1 https://www.ncbi.nlm.nih.gov/omim/?term=602041 http://www.informatics.jax.org/searchtool/Search.do?query=NKX3-1&submit=Quick%0D%11934ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX3-1 rs140739091 0 0 0 1 0 0 UTR3 UTR3 UTR3 NKX3-1(NM_006167:c.*2174_*2171delinsG,NM_001256339:c.*2174_*2171delinsG) NKX3-1(uc031tao.1:c.*2174_*2171delinsG,uc011kzx.2:c.*2174_*2171delinsG) ENSG00000167034(ENST00000380871:c.*2174_*2171delinsG) Na Na Na Na Na Na Het;-TTT 2222;57|71 Ref Hom;-TTT 4497;0|126 N N - 8 249357 249357 A G snp intergenic ZNF596 ENSG00000172748 zinc finger protein 596 chr8:182137-197342 Blood Coagulation Factors; Chronic renal failure|Kidney Failure, Chronic Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF596 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF596&submit=Quick%0D%13221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF596 rs28653410 0 0 0 1 0 0 intergenic intergenic intergenic ZNF596(dist=52017),FAM87A(dist=76574) ZNF596(dist=52018),FBXO25(dist=107451) ENSG00000254104(dist=34685),ENSG00000249868(dist=5949) Na Na Na Na Na Na Het;A>G 2827;118|115 Het;A>G 1839;138|93 Hom;A>G 5317;3|196 N N - 8 25132735 25132735 T A snp intronic DOCK5 Dock5 ENSG00000147459 dedicator of cytokinesis 5 chr8:25042238-25275598 This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016] Myocardial Infarction Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1904694;negative regulation of vascular smooth muscle contraction;IMP|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOCK5 https://www.uniprot.org/uniprot/Q9H7D0 https://www.ncbi.nlm.nih.gov/omim/?term=616904 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK5&submit=Quick%0D%9005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK5 rs4478580 0.447684 0 0 1 0 0 intronic intronic intronic DOCK5 DOCK5 ENSG00000147459 Na Na Na Na Na Na Het;T>A 67;4|3 Ref Hom;T>A 85;0|3 N N - 8 25234688 25234688 T C snp intronic DOCK5 Dock5 ENSG00000147459 dedicator of cytokinesis 5 chr8:25042238-25275598 This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016] Myocardial Infarction Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1904694;negative regulation of vascular smooth muscle contraction;IMP|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOCK5 https://www.uniprot.org/uniprot/Q9H7D0 https://www.ncbi.nlm.nih.gov/omim/?term=616904 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK5&submit=Quick%0D%9005ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK5 rs6992056 0.194688 0 0 1 0 0 intronic intronic intronic DOCK5 DOCK5,PPP2R2A ENSG00000147459 Na Na Na Na Na Na Het;T>C 194;4|6 Ref Hom;T>C 133;0|4 N N - 8 268616 268616 A G snp ncRNA_intronic AC136777.1 rs2544268 0.366214 0 0 1 0 0 intergenic intergenic ncRNA_intronic ZNF596(dist=71276),FAM87A(dist=57315) ZNF596(dist=71277),FBXO25(dist=88192) ENSG00000249868 Na Na Na Na Na Na Het;A>G 39;4|3 Ref Hom;A>G 54;0|2 N N - 8 27467821 27467821 C G snp intronic CLU Clu ENSG00000120885 clusterin chr8:27454434-27472548 The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011] Schizophrenia; cholesterol; cholesterol, LDL; carotid atherosclerosis; hypertension; preeclampsia; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; panic disorder; Exfoliation Syndrome|Glaucoma, Open-Angle; Lymphoma, Non-Hodgkin; Cardiovascular Diseases|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Heart Failure; Exfoliation Syndrome; plasma HDL-C levels; Alzheimer's disease; Alzheimer Disease; Macular Degeneration; Alzheimer's disease Homozygous inactivation of this gene leads to progressive renal glomerulopathy and increased severity of myosin-induced autoimmune myocarditis. Regulation of Complement cascade GO:0000902;cell morphogenesis;IDA|GO:0001774;microglial cell activation;IDA|GO:0001836;release of cytochrome c from mitochondria;IC|GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0006629;lipid metabolic process;NAS|GO:0006915;apoptotic process;IEA|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0009615;response to virus;IEP|GO:0017038;protein import;IDA|GO:0019730;antimicrobial humoral response;TAS|GO:0030449;regulation of complement activation;TAS|GO:0032286;central nervous system myelin maintenance;IMP|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0032463;negative regulation of protein homooligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0043691;reverse cholesterol transport;TAS|GO:0045087;innate immune response;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0050821;protein stabilization;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051131;chaperone-mediated protein complex assembly;IDA|GO:0051788;response to misfolded protein;IDA|GO:0060548;negative regulation of cell death;IMP|GO:0061077;chaperone-mediated protein folding;IDA|GO:0061518;microglial cell proliferation;IDA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;TAS|GO:1900221;regulation of beta-amyloid clearance;IDA|GO:1901214;regulation of neuron death;IDA|GO:1901216;positive regulation of neuron death;IDA|GO:1902004;positive regulation of beta-amyloid formation;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1902430;negative regulation of beta-amyloid formation;IDA|GO:1902847;regulation of neuronal signal transduction;IMP|GO:1902949;positive regulation of tau-protein kinase activity;IMP|GO:1902998;positive regulation of neurofibrillary tangle assembly;IMP|GO:1903573;negative regulation of response to endoplasmic reticulum stress;IMP|GO:1905892;negative regulation of cellular response to thapsigargin;IMP|GO:1905895;negative regulation of cellular response to tunicamycin;IMP|GO:1905907;negative regulation of amyloid fibril formation;IDA|GO:2000060;positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0034366;spherical high-density lipoprotein particle;IDA|GO:0042583;chromaffin granule;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IPI|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IDA|GO:0072562;blood microparticle;IDA|GO:0097418;neurofibrillary tangle;IDA|GO:0097440;apical dendrite;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0051087;chaperone binding;ISS|GO:0051787;misfolded protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLU https://www.uniprot.org/uniprot/P10909 https://www.ncbi.nlm.nih.gov/omim/?term=185430 http://www.informatics.jax.org/searchtool/Search.do?query=CLU&submit=Quick%0D%5261ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLU rs2070926 0.764776 0 0 1 0 0 intronic intronic intronic CLU CLU ENSG00000120885 Na Na Na Na Na Na Het;C>G 37;5|2 Ref Hom;C>G 59;0|2 N N - 8 28097163 28097164 TA T indel downstream AC021678.3 rs35349891 0.578275 0 0 1 0 0 intergenic intergenic downstream ELP3(dist=48494),PNOC(dist=77485) ELP3(dist=48494),PNOC(dist=77485) ENSG00000253907 Na Na Na Na Na Na Het;-A 124;6|8 Ref Hom;-A 115;0|6 N N - 8 30437639 30437639 C T snp intronic GTF2E2 Gtf2e2 ENSG00000197265 general transcription factor IIE subunit 2 chr8:30435835-30515768 ulcerative colitis; Cognitive performance RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005673;transcription factor TFIIE complex;IEA|GO:0005829;cytosol;IDA|GO:0016607;nuclear speck;IDA GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GTF2E2 https://hpo.jax.org/app/browse/search?q=GTF2E2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=189964 http://www.informatics.jax.org/searchtool/Search.do?query=GTF2E2&submit=Quick%0D%16584ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2E2 rs62505275 0.200479 0 0 1 0 0 intronic intronic intronic GTF2E2 GTF2E2 ENSG00000197265 Na Na Na Na Na Na Het;C>T 32;3|2 Ref Hom;C>T 146;0|6 N N - 8 32247220 32247220 A G snp intronic NRG1 Nrg1 ENSG00000157168 neuregulin 1 chr8:31496902-32622548 The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016] Alzheimer's disease; psychoses; Asthma|; autism; schizophrenia | autism; cognitive function schizotypy; Thyroid Neoplasms; Hirschsprung Disease; longevity; methamphetamine psychosis; Diabetes Mellitus, Type 2; bipolar disorder; Alzheimer's disease; Schizophrenia|bipolar disorder; Arteries; Hip; Insulin; Type 2 Diabetes| edema | rosiglitazone; hip geometry; Osteoporosis; schizotypal personality; depression; schizophrenia | bipolar disorder; null; several psychiatric disorders; cardiovascular risk; schizophrenia | personality; Waist Circumference; schizophrenia; Triglycerides; Electrocardiography; atherosclerosis; normal variation; psychosis, manic schizophrenia; psychosis; Tobacco Use Disorder; Schizophrenia; Hematocrit; Hirschsprung's disease; Bipolar Disorder; Hippocampal Atrophy; psychoses schizophrenia; Marijuana Abuse|Psychoses, Substance-Induced; prepulse inhibition; Infant, Newborn, Diseases; Stroke Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. Downregulation of ERBB2 signaling GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;IMP|GO:0000902;cell morphogenesis;IEA|GO:0001964;startle response;IEA|GO:0003161;cardiac conduction system development;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IDA|GO:0007154;cell communication;TAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007399;nervous system development;TAS|GO:0007416;synapse assembly;IEA|GO:0007420;brain development;IEA|GO:0007422;peripheral nervous system development;IEA|GO:0007507;heart development;IEA|GO:0007517;muscle organ development;IEA|GO:0007626;locomotory behavior;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008366;axon ensheathment;IEA|GO:0009790;embryo development;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0014032;neural crest cell development;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021781;glial cell fate commitment;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0022008;neurogenesis;IEA|GO:0030879;mammary gland development;TAS|GO:0031643;positive regulation of myelination;IEA|GO:0032148;activation of protein kinase B activity;IMP|GO:0038127;ERBB signaling pathway;IMP|GO:0038128;ERBB2 signaling pathway;TAS|GO:0038129;ERBB3 signaling pathway;IDA|GO:0042060;wound healing;TAS|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0043496;regulation of protein homodimerization activity;TAS|GO:0043497;regulation of protein heterodimerization activity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045213;neurotransmitter receptor metabolic process;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046579;positive regulation of Ras protein signal transduction;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048663;neuron fate commitment;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0051048;negative regulation of secretion;IDA|GO:0051155;positive regulation of striated muscle cell differentiation;ISS|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060379;cardiac muscle cell myoblast differentiation;IDA|GO:0060956;endocardial cell differentiation;IDA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0070886;positive regulation of calcineurin-NFAT signaling cascade;IEA|GO:1901185;negative regulation of ERBB signaling pathway;TAS|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2000010;positive regulation of protein localization to cell surface;IEA|GO:2000145;regulation of cell motility;TAS|GO:2000727;positive regulation of cardiac muscle cell differentiation;IEA|GO:2001223;negative regulation of neuron migration;IEA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030673;axolemma;IEA|GO:0031594;neuromuscular junction;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA GO:0003712;transcription cofactor activity;IDA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;TAS|GO:0005176;ErbB-2 class receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0043125;ErbB-3 class receptor binding;IDA|GO:0045499;chemorepellent activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NRG1 https://www.ncbi.nlm.nih.gov/omim/?term=142445 http://www.informatics.jax.org/searchtool/Search.do?query=NRG1&submit=Quick%0D%10063ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG1 rs4733325 0.389776 0 0 1 0 0 intronic intronic intronic NRG1 NRG1 ENSG00000157168 Na Na Na Na Na Na Het;A>G 289;9|9 Het;A>G 176;9|6 Hom;A>G 135;0|4 N N - 8 39735479 39735479 G T snp intergenic ADAM2 Adam2 ENSG00000276286 ADAM metallopeptidase domain 2 chr8:39601254-39695808 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida. Interaction With The Zona Pellucida GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007338;single fertilization;IEA|GO:0007339;binding of sperm to zona pellucida;TAS|GO:0007342;fusion of sperm to egg plasma membrane;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ADAM2 https://www.uniprot.org/uniprot/Q99965 https://www.ncbi.nlm.nih.gov/omim/?term=601533 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM2&submit=Quick%0D%21567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM2 rs13274632 0.196286 0 0 1 0 0 intergenic intergenic intergenic ADAM2(dist=39671),IDO1(dist=35849) ADAM2(dist=39671),IDO1(dist=35849) ENSG00000253233(dist=10148),ENSG00000131203(dist=24315) Na Na Na Na Na Na Het;G>T 160;2|7 Het;G>T 34;4|2 Hom;G>T 111;0|5 N N - 8 40311228 40311228 C T snp intergenic C8orf4 1810011O10Rik ENSG00000176907 chromosome 8 open reading frame 4 chr8:40010989-40012821 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011] Attention Deficit Disorder with Hyperactivity; Respiratory Function Tests Mice homozygous for a knock-out allele exhibit myeloid and lymphoid hyperplasia, an increased number of small-sized red blood cells, increased hematopoietic stem cell number, and enhanced hematopoietic activity. GO:0002264;endothelial cell activation involved in immune response;IDA|GO:0006915;apoptotic process;IEA|GO:0010739;positive regulation of protein kinase A signaling;IDA|GO:0034605;cellular response to heat;IDA|GO:0042346;positive regulation of NF-kappaB import into nucleus;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043620;regulation of DNA-templated transcription in response to stress;IDA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:1900020;positive regulation of protein kinase C activity;IDA|GO:1902806;regulation of cell cycle G1/S phase transition;IDA|GO:1903706;regulation of hemopoiesis;IEA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016607;nuclear speck;IDA GO:0005112;Notch binding;IPI|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C8orf4 https://www.ncbi.nlm.nih.gov/omim/?term=607702 http://www.informatics.jax.org/searchtool/Search.do?query=C8orf4&submit=Quick%0D%13932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C8orf4 rs2730181 0.466454 0 0 1 0 0 intergenic intergenic intergenic C8orf4(dist=298401),ZMAT4(dist=76883) C8orf4(dist=298401),ZMAT4(dist=76883) ENSG00000253354(dist=51861),ENSG00000272479(dist=65856) Na Na Na Na Na Na Het;C>T 45;3|3 Het;C>T 71;2|3 Hom;C>T 163;0|5 N N - 8 5101783 5101783 A G snp intergenic CSMD1 Csmd1 ENSG00000183117 CUB and Sushi multiple domains 1 chr8:2792875-4852494 Diabetes Mellitus; Iron; Body Weight; Monocytes; multiple sclerosis; Parkinson Disease; Stroke; Sodium; Electrocardiography; Hip; Coronary Disease; Schizophrenia; Parietal Lobe; Body Height; Hand Strength; Sleep; Tobacco Use Disorder; Tunica Media; Peripheral Vascular Diseases; Calcium; Hematocrit; Echocardiography; Albumins; Intercellular Adhesion Molecule-1; Lipoproteins; Multiple Sclerosis; hypertension; Macular Degeneration; Heart Rate; Triglycerides; Cholesterol, HDL; Bone Density; Cell Adhesion Molecules; Inflammation; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; Magnesium; Celiac Disease|; Insulin Resistance; Exercise Test; Lipids; Asthma; Mucocutaneous Lymph Node Syndrome; Behcet Syndrome; Psoriasis; Body Mass Index; Erythrocyte Count; smoking cessation; Hemoglobins; Blood Pressure; Body Fat Distribution Mice exhibit normal pre-pulse inhibition, social interaction, sucrose preference and d-amphetamine sensitivity. GO:0001964;startle response;IEA|GO:0042593;glucose homeostasis;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSMD1 https://www.ncbi.nlm.nih.gov/omim/?term=608397 http://www.informatics.jax.org/searchtool/Search.do?query=CSMD1&submit=Quick%0D%14925ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD1 rs11136841 0.744409 0 0 1 0 0 intergenic intergenic intergenic CSMD1(dist=249455),LOC100287015(dist=1159294) CSMD1(dist=249455),7SK(dist=666684) ENSG00000242079(dist=101554),ENSG00000271248(dist=210957) Na Na Na Na Na Na Het;A>G 517;30|25 Ref Hom;A>G 1679;0|50 N N - 8 5251908 5251908 G A snp intergenic CSMD1 Csmd1 ENSG00000183117 CUB and Sushi multiple domains 1 chr8:2792875-4852494 Diabetes Mellitus; Iron; Body Weight; Monocytes; multiple sclerosis; Parkinson Disease; Stroke; Sodium; Electrocardiography; Hip; Coronary Disease; Schizophrenia; Parietal Lobe; Body Height; Hand Strength; Sleep; Tobacco Use Disorder; Tunica Media; Peripheral Vascular Diseases; Calcium; Hematocrit; Echocardiography; Albumins; Intercellular Adhesion Molecule-1; Lipoproteins; Multiple Sclerosis; hypertension; Macular Degeneration; Heart Rate; Triglycerides; Cholesterol, HDL; Bone Density; Cell Adhesion Molecules; Inflammation; Chromosomal Instability|Cystadenocarcinoma, Serous|Ovarian Neoplasms; Magnesium; Celiac Disease|; Insulin Resistance; Exercise Test; Lipids; Asthma; Mucocutaneous Lymph Node Syndrome; Behcet Syndrome; Psoriasis; Body Mass Index; Erythrocyte Count; smoking cessation; Hemoglobins; Blood Pressure; Body Fat Distribution Mice exhibit normal pre-pulse inhibition, social interaction, sucrose preference and d-amphetamine sensitivity. GO:0001964;startle response;IEA|GO:0042593;glucose homeostasis;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSMD1 https://www.ncbi.nlm.nih.gov/omim/?term=608397 http://www.informatics.jax.org/searchtool/Search.do?query=CSMD1&submit=Quick%0D%14925ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSMD1 rs36062522 0.327676 0 0 1 0 0 intergenic intergenic intergenic CSMD1(dist=399580),LOC100287015(dist=1009169) CSMD1(dist=399580),7SK(dist=516559) ENSG00000242079(dist=251679),ENSG00000271248(dist=60832) Na Na Na Na Na Na Het;G>A 417;16|21 Ref Hom;G>A 648;0|24 N N - 8 54413417 54413417 G A snp intergenic OPRK1 Oprk1 ENSG00000082556 opioid receptor kappa 1 chr8:54138284-54164257 This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jan 2016] Substance-Related Disorders; Autism; heroin abuse; Leukemia, Lymphocytic, Chronic, B-Cell; Heroin Dependence; Alcoholism; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; alcohol abuse; several psychiatric disorders; Alcohol-Related Disorders; Bulimia; heroin addiction; Pain; Alcoholism|Cocaine-Related Disorders|Heroin Dependence|Substance-Related Disorders; alcohol consumption Mice homozygous for a knock-out allele exhibit impaired response to morphine and an opioid agonist, abnormal pain threshold, and increased litter size. G alpha (i) signalling events GO:0006955;immune response;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0007218;neuropeptide signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007600;sensory perception;TAS|GO:0007610;behavior;TAS|GO:0007626;locomotory behavior;ISS|GO:0009314;response to radiation;IEA|GO:0019233;sensory perception of pain;IBA|GO:0031635;adenylate cyclase-inhibiting opioid receptor signaling pathway;IDA|GO:0032868;response to insulin;IEA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0033685;negative regulation of luteinizing hormone secretion;IEA|GO:0038003;opioid receptor signaling pathway;IDA|GO:0040017;positive regulation of locomotion;IEA|GO:0042220;response to cocaine;IEA|GO:0042711;maternal behavior;IEA|GO:0042755;eating behavior;IEA|GO:0043278;response to morphine;IEA|GO:0043627;response to estrogen;IEA|GO:0044849;estrous cycle;IEA|GO:0045471;response to ethanol;IEA|GO:0046877;regulation of saliva secretion;ISS|GO:0048148;behavioral response to cocaine;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051607;defense response to virus;IDA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1900745;positive regulation of p38MAPK cascade;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1903715;regulation of aerobic respiration;IEA|GO:1903937;response to acrylamide;IEA|GO:1990708;conditioned place preference;IEA|GO:2000505;regulation of energy homeostasis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004985;opioid receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0038048;dynorphin receptor activity;IDA|GO:0042923;neuropeptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OPRK1 https://www.uniprot.org/uniprot/P41145 https://www.ncbi.nlm.nih.gov/omim/?term=165196 http://www.informatics.jax.org/searchtool/Search.do?query=OPRK1&submit=Quick%0D%1808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OPRK1 rs11784703 0.665136 0 0 1 0 0 intergenic intergenic intergenic OPRK1(dist=249160),ATP6V1H(dist=214686) OPRK1(dist=249223),AK056897(dist=14314) ENSG00000253369(dist=104911),ENSG00000254204(dist=14313) Na Na Na Na Na Na Het;G>A 32;4|2 Het;G>A 40;2|2 Hom;G>A 117;0|4 N N - 8 54513793 54513793 G C snp intergenic OPRK1 Oprk1 ENSG00000082556 opioid receptor kappa 1 chr8:54138284-54164257 This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jan 2016] Substance-Related Disorders; Autism; heroin abuse; Leukemia, Lymphocytic, Chronic, B-Cell; Heroin Dependence; Alcoholism; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; alcohol abuse; several psychiatric disorders; Alcohol-Related Disorders; Bulimia; heroin addiction; Pain; Alcoholism|Cocaine-Related Disorders|Heroin Dependence|Substance-Related Disorders; alcohol consumption Mice homozygous for a knock-out allele exhibit impaired response to morphine and an opioid agonist, abnormal pain threshold, and increased litter size. G alpha (i) signalling events GO:0006955;immune response;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0007218;neuropeptide signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007600;sensory perception;TAS|GO:0007610;behavior;TAS|GO:0007626;locomotory behavior;ISS|GO:0009314;response to radiation;IEA|GO:0019233;sensory perception of pain;IBA|GO:0031635;adenylate cyclase-inhibiting opioid receptor signaling pathway;IDA|GO:0032868;response to insulin;IEA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0033685;negative regulation of luteinizing hormone secretion;IEA|GO:0038003;opioid receptor signaling pathway;IDA|GO:0040017;positive regulation of locomotion;IEA|GO:0042220;response to cocaine;IEA|GO:0042711;maternal behavior;IEA|GO:0042755;eating behavior;IEA|GO:0043278;response to morphine;IEA|GO:0043627;response to estrogen;IEA|GO:0044849;estrous cycle;IEA|GO:0045471;response to ethanol;IEA|GO:0046877;regulation of saliva secretion;ISS|GO:0048148;behavioral response to cocaine;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051607;defense response to virus;IDA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1900745;positive regulation of p38MAPK cascade;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1903715;regulation of aerobic respiration;IEA|GO:1903937;response to acrylamide;IEA|GO:1990708;conditioned place preference;IEA|GO:2000505;regulation of energy homeostasis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004985;opioid receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0038048;dynorphin receptor activity;IDA|GO:0042923;neuropeptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OPRK1 https://www.uniprot.org/uniprot/P41145 https://www.ncbi.nlm.nih.gov/omim/?term=165196 http://www.informatics.jax.org/searchtool/Search.do?query=OPRK1&submit=Quick%0D%1808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OPRK1 rs7386224 0.812101 0 0 1 0 0 intergenic intergenic intergenic OPRK1(dist=349536),ATP6V1H(dist=114310) AK056897(dist=77302),ATP6V1H(dist=114310) ENSG00000206144(dist=60933),ENSG00000253668(dist=111464) Na Na Na Na Na Na Het;G>C 86;2|4 Ref Hom;G>C 134;0|4 N N - 8 54513843 54513843 C T snp intergenic OPRK1 Oprk1 ENSG00000082556 opioid receptor kappa 1 chr8:54138284-54164257 This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jan 2016] Substance-Related Disorders; Autism; heroin abuse; Leukemia, Lymphocytic, Chronic, B-Cell; Heroin Dependence; Alcoholism; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; alcohol abuse; several psychiatric disorders; Alcohol-Related Disorders; Bulimia; heroin addiction; Pain; Alcoholism|Cocaine-Related Disorders|Heroin Dependence|Substance-Related Disorders; alcohol consumption Mice homozygous for a knock-out allele exhibit impaired response to morphine and an opioid agonist, abnormal pain threshold, and increased litter size. G alpha (i) signalling events GO:0006955;immune response;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;ISS|GO:0007218;neuropeptide signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007600;sensory perception;TAS|GO:0007610;behavior;TAS|GO:0007626;locomotory behavior;ISS|GO:0009314;response to radiation;IEA|GO:0019233;sensory perception of pain;IBA|GO:0031635;adenylate cyclase-inhibiting opioid receptor signaling pathway;IDA|GO:0032868;response to insulin;IEA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0033685;negative regulation of luteinizing hormone secretion;IEA|GO:0038003;opioid receptor signaling pathway;IDA|GO:0040017;positive regulation of locomotion;IEA|GO:0042220;response to cocaine;IEA|GO:0042711;maternal behavior;IEA|GO:0042755;eating behavior;IEA|GO:0043278;response to morphine;IEA|GO:0043627;response to estrogen;IEA|GO:0044849;estrous cycle;IEA|GO:0045471;response to ethanol;IEA|GO:0046877;regulation of saliva secretion;ISS|GO:0048148;behavioral response to cocaine;IEA|GO:0050951;sensory perception of temperature stimulus;IEA|GO:0051607;defense response to virus;IDA|GO:0051930;regulation of sensory perception of pain;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1900745;positive regulation of p38MAPK cascade;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1903715;regulation of aerobic respiration;IEA|GO:1903937;response to acrylamide;IEA|GO:1990708;conditioned place preference;IEA|GO:2000505;regulation of energy homeostasis;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043679;axon terminus;IEA|GO:0045202;synapse;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004985;opioid receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0038048;dynorphin receptor activity;IDA|GO:0042923;neuropeptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OPRK1 https://www.uniprot.org/uniprot/P41145 https://www.ncbi.nlm.nih.gov/omim/?term=165196 http://www.informatics.jax.org/searchtool/Search.do?query=OPRK1&submit=Quick%0D%1808ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OPRK1 rs10958379 0.812101 0 0 1 0 0 intergenic intergenic intergenic OPRK1(dist=349586),ATP6V1H(dist=114260) AK056897(dist=77352),ATP6V1H(dist=114260) ENSG00000206144(dist=60983),ENSG00000253668(dist=111414) Na Na Na Na Na Na Het;C>T 44;2|3 Ref Hom;C>T 84;0|3 N N - 8 57302927 57302927 A AT indel ncRNA_intronic SDR16C6P rs10693785 0 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic SDR16C6P SDR16C5(dist=69686),PENK(dist=50586) ENSG00000253542 Na Na Na Na Na Na Het;+T 146;4|14 Ref Hom;+T 51;1|4 N N - 8 59171511 59171511 G A snp ncRNA_intronic BC032030 rs4584134 0.853634 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929528 BC032030 ENSG00000253281 Na Na Na Na Na Na Het;G>A 128;4|4 Ref Hom;G>A 332;0|8 N N - 8 59171512 59171512 C T snp ncRNA_intronic BC032030 rs4526350 0.534145 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929528 BC032030 ENSG00000253281 Na Na Na Na Na Na Het;C>T 128;4|4 Ref Hom;C>T 332;0|8 N N - 8 5951920 5951922 TAA T indel ncRNA_intronic AC009435.1 rs200236602 0.182708 0 0 1 0 0 intergenic intergenic ncRNA_intronic CSMD1(dist=1099592),LOC100287015(dist=309155) 7SK(dist=183162),LOC100287015(dist=309155) ENSG00000253880 Na Na Na Na Na Na Het;-AA 81;2|4 Ref Hom;-AA 425;3|13 N N - 8 6070944 6070944 C T snp ncRNA_intronic AC009435.1 rs34288301 0.39976 0 0 1 0 0 intergenic intergenic ncRNA_intronic CSMD1(dist=1218616),LOC100287015(dist=190133) 7SK(dist=302186),LOC100287015(dist=190133) ENSG00000253880 Na Na Na Na Na Na Het;C>T 171;2|8 Ref Hom;C>T 219;0|10 N N - 8 6266693 6266693 C T snp intronic MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs1550698 0.372204 0 0 1 0 0 intronic intronic intronic MCPH1 MCPH1 ENSG00000147316 Na Na Na Na Na Na Het;C>T 1023;28|35 Ref Hom;C>T 1350;0|44 N N - 8 6266774 6266774 G A snp intronic MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs1550697 0.372005 0.3269 0.2554 1 0 0 intronic intronic intronic MCPH1 MCPH1 ENSG00000147316 Na Na Na Na Na Na Het;G>A 2301;97|110 Ref Hom;G>A 4384;0|166 N N - 8 6272457 6272457 T G snp intronic MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs2305021 0.280351 0 0 1 0 0 intronic intronic intronic MCPH1 MCPH1 ENSG00000147316 Na Na Na Na Na Na Het;T>G 331;5|15 Ref Hom;T>G 228;0|7 N N - 8 6302154 6302154 G T snp nonsynonymous SNV G767T R256I polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs2083914 0.0702875 0.1182 0.1153 0.46 6 13 exonic exonic exonic MCPH1 MCPH1 ENSG00000147316 nonsynonymous SNV nonsynonymous SNV unknown MCPH1:NM_001172574:exon8:c.G911T:p.R304I,MCPH1:NM_001172575:exon7:c.G767T:p.R256I,MCPH1:NM_024596:exon8:c.G911T:p.R304I, MCPH1:uc011kwl.2:exon7:c.G767T:p.R256I,MCPH1:uc003wqi.3:exon8:c.G911T:p.R304I,MCPH1:uc003wqh.3:exon8:c.G911T:p.R304I, UNKNOWN Het;G>T 2540;65|105 Ref Hom;G>T 5191;1|189 N N - 8 6303409 6303409 T G snp UTR3 *333T>G MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs2916750 0.29353 0 0 1 0 0 UTR3 UTR3 UTR3 MCPH1(NM_001172575:c.*333T>G,NM_001172574:c.*333T>G) MCPH1(uc003wqh.3:c.*333T>G,uc011kwl.2:c.*333T>G) ENSG00000147316(ENST00000519480:c.*333T>G,ENST00000522905:c.*333T>G) Na Na Na Na Na Na Het;T>G 1713;92|76 Ref Hom;T>G 4276;0|148 N N - 8 6304185 6304185 T G snp UTR3 *1109T>G MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs2916749 0.124002 0 0 1 0 0 UTR3 UTR3 intronic MCPH1(NM_001172575:c.*1109T>G,NM_001172574:c.*1109T>G) MCPH1(uc003wqh.3:c.*1109T>G,uc011kwl.2:c.*1109T>G) ENSG00000147316 Na Na Na Na Na Na Het;T>G 1460;43|51 Ref Hom;T>G 2222;0|70 N N - 8 6331612 6331612 G A snp ncRNA_exonic AC016065.2 rs60915478 0.173722 0 0 1 0 0 intronic intronic ncRNA_exonic MCPH1 MCPH1 ENSG00000253550 Na Na Na Na Na Na Het;G>A 68;3|3 Ref Hom;G>A 185;0|7 N N - 8 6335208 6335208 T C snp intronic MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs2277136 0.152556 0.1253 0 1 0 0 intronic intronic intronic MCPH1 MCPH1 ENSG00000147316 Na Na Na Na Na Na Het;T>C 860;35|39 Ref Hom;T>C 2926;1|103 N N - 8 6338306 6338306 C A snp nonsynonymous SNV C2045A T682N polar,hydrophilic,neutral polar,hydrophilic,neutral MCPH1 Mcph1 ENSG00000147316 microcephalin 1 chr8:6264113-6501144 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Mental Retardation|Microcephaly; Multiple System Atrophy; Micrencephaly |Microcephaly; smoking cessation; Hypercholesterolemia|LDLC levels; Adenocarcinoma|Pancreatic Neoplasms; Microcephaly; brain size; Tobacco Use Disorder; breast cancer; cognitive function head circumference social intelligence; Coronary Artery Disease|; atherosclerosis Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. Condensation of Prophase Chromosomes GO:0021987;cerebral cortex development;IEA|GO:0071850;mitotic cell cycle arrest;IDA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MCPH1 https://www.uniprot.org/uniprot/Q8NEM0 https://hpo.jax.org/app/browse/search?q=MCPH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607117 http://www.informatics.jax.org/searchtool/Search.do?query=MCPH1&submit=Quick%0D%8985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCPH1 rs12674488 0.146366 0.1330 0.1522 0.38 5 13 exonic exonic exonic MCPH1 MCPH1 ENSG00000147316 nonsynonymous SNV nonsynonymous SNV unknown MCPH1:NM_024596:exon11:c.C2045A:p.T682N, MCPH1:uc003wqi.3:exon11:c.C2045A:p.T682N, UNKNOWN Het;C>A 1219;80|61 Ref Hom;C>A 3519;0|133 N N - 8 6390079 6390079 G A snp intronic ANGPT2 Angpt2 ENSG00000091879 angiopoietin 2 chr8:6357172-6420930 The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Arteries; Retinopathy of Prematurity; Birth Weight|Retinopathy of Prematurity; Tobacco Use Disorder; uterine leiomyomas; pregnancy loss, recurrent; Stroke; retinopathy of prematurity; Lymphedema; Apoplexy|Brain Infarction|Recurrence|Stroke; fetal loss, late; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; BMI- Edema rosiglitazone or pioglitazone; Respiratory Distress Syndrome, Adult; idiopathic recurrent miscarriage Homozygous inactivation of this gene results in impaired angiogenesis, abnormal lymphatic development and function, and ultimately postnatal lethality. Tie2 Signaling GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEA|GO:0009314;response to radiation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009749;response to glucose;IEA|GO:0010812;negative regulation of cell-substrate adhesion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0016525;negative regulation of angiogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031100;animal organ regeneration;IEA|GO:0043537;negative regulation of blood vessel endothelial cell migration;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0048014;Tie signaling pathway;IDA|GO:0048514;blood vessel morphogenesis;IEA|GO:0050900;leukocyte migration;TAS|GO:0050928;negative regulation of positive chemotaxis;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0072012;glomerulus vasculature development;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0042995;cell projection;IEA GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANGPT2 https://www.uniprot.org/uniprot/O15123 https://www.ncbi.nlm.nih.gov/omim/?term=601922 http://www.informatics.jax.org/searchtool/Search.do?query=ANGPT2&submit=Quick%0D%2166ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANGPT2 rs2515482 0.619209 0 0 1 0 0 intronic intronic intronic ANGPT2,MCPH1 ANGPT2,MCPH1 ENSG00000091879,ENSG00000147316 Na Na Na Na Na Na Het;G>A 398;14|16 Ref Hom;G>A 757;0|26 N N - 8 6679718 6679718 A T snp ncRNA_intronic ENSG00000186530 rs28564455 0.433506 0 0 1 0 0 intronic intronic ncRNA_intronic XKR5 XKR5 ENSG00000186530 Na Na Na Na Na Na Het;A>T 191;7|7 Ref Hom;A>T 83;0|3 N N - 8 6681256 6681256 A C snp ncRNA_intronic ENSG00000186530 rs9772979 0.711262 0.5413 0.6305 1 0 0 intronic intronic ncRNA_intronic XKR5 XKR5 ENSG00000186530 Na Na Na Na Na Na Het;A>C 977;29|38 Ref Hom;A>C 1713;0|58 N N - 8 6690173 6690173 G C snp ncRNA_intronic ENSG00000186530 rs2978902 0.632987 0 0 1 0 0 intronic intronic ncRNA_intronic XKR5 XKR5 ENSG00000186530 Na Na Na Na Na Na Het;G>C 365;22|12 Ref Hom;G>C 439;0|14 N N - 8 6690215 6690215 G C snp ncRNA_intronic ENSG00000186530 rs2978901 0.532748 0.4851 0.5213 1 0 0 intronic intronic ncRNA_intronic XKR5 XKR5 ENSG00000186530 Na Na Na Na Na Na Het;G>C 627;34|26 Ref Hom;G>C 1220;0|42 N N - 8 6690276 6690276 T C snp nonsynonymous SNV A205G M69V hydrophobic,neutral aliphatic,hydrophobic,neutral XKR5 Xkr5 ENSG00000275591 XK related 5 chr8:6666038-6693166 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/XKR5 http://www.informatics.jax.org/searchtool/Search.do?query=XKR5&submit=Quick%0D%21394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XKR5 rs2741098 0.669329 0.6328 0.5717 0.00 0 3 exonic exonic ncRNA_exonic XKR5 XKR5 ENSG00000186530 nonsynonymous SNV nonsynonymous SNV Na XKR5:NM_207411:exon2:c.A205G:p.M69V, XKR5:uc022aqv.1:exon2:c.A205G:p.M69V, Na Het;T>C 1720;62|73 Ref Hom;T>C 3008;1|113 N N - 8 6692968 6692968 C T snp synonymous SNV G48A E16E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) XKR5 Xkr5 ENSG00000275591 XK related 5 chr8:6666038-6693166 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/XKR5 http://www.informatics.jax.org/searchtool/Search.do?query=XKR5&submit=Quick%0D%21394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XKR5 rs2977806 0.516174 0.6316 0.5741 1 0 0 exonic exonic ncRNA_exonic XKR5 XKR5 ENSG00000186530 synonymous SNV synonymous SNV Na XKR5:NM_207411:exon1:c.G48A:p.E16E, XKR5:uc022aqv.1:exon1:c.G48A:p.E16E, Na Het;C>T 31;6|3 Ref Hom;C>T 320;0|12 N N - 8 6693495 6693495 T G snp ncRNA_exonic GS1-24F4.2 rs2951851 0.656749 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic GS1-24F4.2 LOC100652791(uc022aqw.2:c.-5797T>G) ENSG00000245857 Na Na Na Na Na Na Het;T>G 762;37|36 Ref Hom;T>G 1563;0|59 N N - 8 6693608 6693608 C G snp ncRNA_exonic GS1-24F4.2 rs2977804 0.463658 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic GS1-24F4.2 LOC100652791(uc022aqw.2:c.-5684C>G) ENSG00000245857 Na Na Na Na Na Na Het;C>G 1510;50|44 Ref Hom;C>G 2916;0|70 N N - 8 6693629 6693629 G C snp ncRNA_exonic GS1-24F4.2 rs2978894 0.661142 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic GS1-24F4.2 LOC100652791(uc022aqw.2:c.-5663G>C) ENSG00000245857 Na Na Na Na Na Na Het;G>C 1348;44|36 Ref Hom;G>C 2909;0|68 N N - 8 6699486 6699486 C G snp nonsynonymous SNV C195G S65R polar,hydrophilic,neutral polar,hydrophilic,charged(+) LOC100652791 rs2951830 0.327077 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic GS1-24F4.2 LOC100652791 ENSG00000245857 Na nonsynonymous SNV Na Na LOC100652791:uc022aqw.2:exon3:c.C195G:p.S65R, Na Het;C>G 2377;130|98 Ref Hom;C>G 5061;0|181 N N - 8 6699538 6699538 T C snp nonsynonymous SNV T247C C83R polar,hydrophobic,neutral polar,hydrophilic,charged(+) LOC100652791 rs2702846 0.577476 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic GS1-24F4.2 LOC100652791 ENSG00000245857 Na nonsynonymous SNV Na Na LOC100652791:uc022aqw.2:exon3:c.T247C:p.C83R, Na Het;T>C 2886;142|127 Ref Hom;T>C 6046;0|214 N N - 8 67335634 67335634 A G snp ncRNA_exonic RRS1-AS1 rs77377708 0.122604 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic RRS1-AS1 LOC100505676(uc022avk.2:c.*12T>C) ENSG00000246145 Na Na Na Na Na Na Het;A>G 192;3|6 Het;A>G 159;2|5 Hom;A>G 173;0|5 N N - 8 6756521 6756521 T C snp ncRNA_exonic RPL23AP96 rs2980959 0.394569 0 0 1 0 0 intergenic intergenic ncRNA_exonic DEFB1(dist=20992),DEFA6(dist=25695) DEFB1(dist=20992),DEFA6(dist=25695) ENSG00000250752 Na Na Na Na Na Na Het;T>C 168;14|8 Ref Hom;T>C 292;0|11 N N - 8 6756577 6756577 A G snp ncRNA_exonic RPL23AP96 rs13275881 0.39377 0 0 1 0 0 intergenic intergenic ncRNA_exonic DEFB1(dist=21048),DEFA6(dist=25639) DEFB1(dist=21048),DEFA6(dist=25639) ENSG00000250752 Na Na Na Na Na Na Het;A>G 314;12|9 Ref Hom;A>G 737;0|17 N N - 8 6756582 6756582 G C snp ncRNA_exonic RPL23AP96 rs13272703 0.39377 0 0 1 0 0 intergenic intergenic ncRNA_exonic DEFB1(dist=21053),DEFA6(dist=25634) DEFB1(dist=21053),DEFA6(dist=25634) ENSG00000250752 Na Na Na Na Na Na Het;G>C 314;12|9 Ref Hom;G>C 786;0|19 N N - 8 6787400 6787400 T C snp ncRNA_intronic AF233439.1 rs2702939 0.702676 0 0 1 0 0 intergenic intergenic ncRNA_intronic DEFA6(dist=3802),DEFA4(dist=5942) DEFA6(dist=3802),DEFA4(dist=5945) ENSG00000254625 Na Na Na Na Na Na Het;T>C 53;2|4 Ref Hom;T>C 108;0|5 N N - 8 6789654 6789654 A T snp intergenic DEFA6 ENSG00000164822 defensin alpha 6 chr8:6782215-6783598 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014] Meningeal Neoplasms|meningioma; HIV Infections; Dermatitis, Atopic|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Alpha-defensins GO:0006952;defense response;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0031640;killing of cells of other organism;IEA|GO:0042742;defense response to bacterium;IEA|GO:0050832;defense response to fungus;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DEFA6 https://www.ncbi.nlm.nih.gov/omim/?term=600471 http://www.informatics.jax.org/searchtool/Search.do?query=DEFA6&submit=Quick%0D%11397ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFA6 rs2738109 0.692093 0 0 1 0 0 intergenic intergenic intergenic DEFA6(dist=6056),DEFA4(dist=3688) DEFA6(dist=6056),DEFA4(dist=3691) ENSG00000254625(dist=1659),ENSG00000164821(dist=3690) Na Na Na Na Na Na Het;A>T 90;2|5 Ref Hom;A>T 148;0|6 N N - 8 6793540 6793540 C T snp UTR3 *2G>A DEFA4 ENSG00000164821 defensin alpha 4 chr8:6793344-6795860 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014] Dermatitis, Atopic|; Meningeal Neoplasms|meningioma; HIV Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; meningococcal disease; HIV Neutrophil degranulation GO:0006952;defense response;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0019732;antifungal humoral response;IDA|GO:0031640;killing of cells of other organism;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0050832;defense response to fungus;IDA|GO:0061844;antimicrobial humoral immune response mediated by antimicrobial peptide;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0042582;azurophil granule;IDA http://www.genecards.org/index.php?path=/Search/keyword/DEFA4 https://www.ncbi.nlm.nih.gov/omim/?term=601157 http://www.informatics.jax.org/searchtool/Search.do?query=DEFA4&submit=Quick%0D%11396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFA4 rs736227 0.667532 0.6848 0.6382 1 0 0 UTR3 UTR3 UTR3 DEFA4(NM_001925:c.*2G>A) DEFA4(uc003wqu.1:c.*2G>A) ENSG00000164821(ENST00000297435:c.*2G>A) Na Na Na Na Na Na Het;C>T 1117;87|55 Ref Hom;C>T 2466;0|92 N N - 8 6793581 6793581 A G snp synonymous SNV T255C G85G aliphatic,neutral aliphatic,neutral DEFA4 ENSG00000164821 defensin alpha 4 chr8:6793344-6795860 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014] Dermatitis, Atopic|; Meningeal Neoplasms|meningioma; HIV Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; meningococcal disease; HIV Neutrophil degranulation GO:0006952;defense response;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0019732;antifungal humoral response;IDA|GO:0031640;killing of cells of other organism;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0050832;defense response to fungus;IDA|GO:0061844;antimicrobial humoral immune response mediated by antimicrobial peptide;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0042582;azurophil granule;IDA http://www.genecards.org/index.php?path=/Search/keyword/DEFA4 https://www.ncbi.nlm.nih.gov/omim/?term=601157 http://www.informatics.jax.org/searchtool/Search.do?query=DEFA4&submit=Quick%0D%11396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFA4 rs2738100 0.461462 0.4295 0.3981 1 0 0 exonic exonic exonic DEFA4 DEFA4 ENSG00000164821 synonymous SNV synonymous SNV unknown DEFA4:NM_001925:exon3:c.T255C:p.G85G, DEFA4:uc003wqu.1:exon3:c.T255C:p.G85G, UNKNOWN Het;A>G 1594;107|70 Ref Hom;A>G 3611;0|130 N N - 8 6795851 6795851 T C snp UTR5 -1430A>G DEFA4 ENSG00000164821 defensin alpha 4 chr8:6793344-6795860 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014] Dermatitis, Atopic|; Meningeal Neoplasms|meningioma; HIV Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; meningococcal disease; HIV Neutrophil degranulation GO:0006952;defense response;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0019732;antifungal humoral response;IDA|GO:0031640;killing of cells of other organism;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0050832;defense response to fungus;IDA|GO:0061844;antimicrobial humoral immune response mediated by antimicrobial peptide;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0042582;azurophil granule;IDA http://www.genecards.org/index.php?path=/Search/keyword/DEFA4 https://www.ncbi.nlm.nih.gov/omim/?term=601157 http://www.informatics.jax.org/searchtool/Search.do?query=DEFA4&submit=Quick%0D%11396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFA4 rs10089687 0.251198 0 0 1 0 0 UTR5 upstream UTR5 DEFA4(NM_001925:c.-1430A>G) DEFA4 ENSG00000164821(ENST00000297435:c.-1430A>G) Na Na Na Na Na Na Het;T>C 71;6|5 Ref Hom;T>C 245;0|11 N N - 8 681206 681206 G C snp UTR5 -45C>G ERICH1 Erich1 ENSG00000282665 glutamate rich 1 chr8:564746-688106 Chronic renal failure|Kidney Failure, Chronic; Blood Coagulation Factors; Hemoglobin A, Glycosylated; Heart Rate http://www.genecards.org/index.php?path=/Search/keyword/ERICH1 http://www.informatics.jax.org/searchtool/Search.do?query=ERICH1&submit=Quick%0D%22570ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERICH1 rs11781283 0.369209 0.4217 0.5233 1 0 0 UTR5 UTR5 UTR5 ERICH1(NM_001303100:c.-45C>G,NM_207332:c.-45C>G) ERICH1(uc003wph.3:c.-45C>G) ENSG00000104714(ENST00000262109:c.-45C>G) Na Na Na Na Na Na Het;G>C 138;14|8 Het;G>C 267;3|14 Hom;G>C 417;0|15 N N - 8 68419256 68419256 G A snp intronic CPA6 Cpa6 ENSG00000165078 carboxypeptidase A6 chr8:68334360-68658620 The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016] Hip; Body Height; Anticonvulsants; Electrocardiography; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; CD40 Ligand GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPA6 https://hpo.jax.org/app/browse/search?q=CPA6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609562 http://www.informatics.jax.org/searchtool/Search.do?query=CPA6&submit=Quick%0D%11461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPA6 rs543198025 0.000599042 0 0 1 0 0 intronic intronic intronic CPA6 CPA6 ENSG00000165078 Na Na Na Na Na Na Het;G>A 169;7|6 Het;G>A 70;3|3 Hom;G>A 138;0|5 N N - 8 6887063 6887063 T G snp upstream DEFA11P rs11137086 0.872804 0 0 1 0 0 upstream upstream upstream DEFA11P DEFA11P ENSG00000234178 Na Na Na Na Na Na Het;T>G 81;11|6 Ref Hom;T>G 778;0|25 N N - 8 71499011 71499011 A T snp intronic TRAM1 Tram1 ENSG00000067167 translocation associated membrane protein 1 chr8:71485677-71520622 This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009] Meningeal Neoplasms|meningioma; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Dengue Hemorrhagic Fever SRP-dependent cotranslational protein targeting to membrane GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRAM1 https://www.uniprot.org/uniprot/Q15629 https://www.ncbi.nlm.nih.gov/omim/?term=605190 http://www.informatics.jax.org/searchtool/Search.do?query=TRAM1&submit=Quick%0D%1244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAM1 rs78943561 0.117013 0 0 1 0 0 intronic intronic intronic TRAM1 TRAM1 ENSG00000067167 Na Na Na Na Na Na Het;A>T 140;6|5 Het;A>T 34;4|2 Hom;A>T 287;0|8 N N - 8 7154617 7154617 T A snp ncRNA_exonic FAM90A20P rs35713605 0.484824 0 0.5670 1 0 0 intergenic ncRNA_intronic ncRNA_exonic LINC00965(dist=10737),FAM66B(dist=4516) FAM66B ENSG00000233295 Na Na Na Na Na Na Het;T>A 506;28|23 Ref Hom;T>A 796;0|31 N N - 8 71550144 71550144 A G snp ncRNA_intronic LACTB2-AS1 rs35571096 0.202875 0.2394 0.1774 1 0 0 ncRNA_intronic intronic intronic LACTB2-AS1 LACTB2,LOC286190 ENSG00000147592,ENSG00000246366 Na Na Na Na Na Na Het;A>G 340;17|18 Het;A>G 250;21|14 Hom;A>G 480;0|19 N N - 8 71550832 71550832 T C snp synonymous SNV A774G K258K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LACTB2 Lactb2 ENSG00000147592 lactamase beta 2 chr8:71547553-71581409 Acquired Immunodeficiency Syndrome|Disease Progression Male mice homozygous for a null allele exhibit at 40 days of age preceeded by decreased body size, lethargy, enlarged and pale liver and hepatic steatosis. GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IDA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IDA GO:0003723;RNA binding;IEA|GO:0003727;single-stranded RNA binding;IDA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004521;endoribonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LACTB2 https://www.uniprot.org/uniprot/Q53H82 http://www.informatics.jax.org/searchtool/Search.do?query=LACTB2&submit=Quick%0D%9024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LACTB2 rs7830986 0.169129 0.1668 0.1107 1 0 0 exonic exonic exonic LACTB2 LACTB2 ENSG00000147592 synonymous SNV synonymous SNV unknown LACTB2:NM_016027:exon6:c.A774G:p.K258K, LACTB2:uc003xyp.3:exon6:c.A774G:p.K258K, UNKNOWN Het;T>C 442;17|18 Het;T>C 206;21|12 Hom;T>C 445;0|19 N N - 8 71556239 71556239 T C snp ncRNA_intronic LACTB2-AS1 rs28696864 0.159744 0 0 1 0 0 ncRNA_intronic intronic intronic LACTB2-AS1 LACTB2,LOC286190 ENSG00000147592,ENSG00000246366 Na Na Na Na Na Na Het;T>C 261;6|8 Het;T>C 335;7|12 Hom;T>C 566;1|20 N N - 8 71564232 71564232 C A snp ncRNA_intronic LACTB2-AS1 rs11990393 0.166933 0 0 1 0 0 ncRNA_intronic intronic intronic LACTB2-AS1 LACTB2,LOC286190 ENSG00000147592,ENSG00000246366 Na Na Na Na Na Na Het;C>A 200;8|7 Het;C>A 134;2|5 Hom;C>A 205;0|6 N N - 8 72945725 72945725 C T snp ncRNA_intronic LOC100132891 rs3824152 0.430911 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic MSC-AS1 LOC100132891 ENSG00000104321,ENSG00000235531 Na Na Na Na Na Na Het;C>T 73;4|3 Ref Hom;C>T 121;0|4 N N - 8 72971579 72971579 A C snp intronic TRPA1 Trpa1 ENSG00000104321 transient receptor potential cation channel subfamily A member 1 chr8:72932152-72987852 The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008] Myocardial Infarction; Alzheimer Disease; Sleep; Blood Pressure; Asthma; Multiple Sclerosis; Heart Failure; Cholesterol, LDL; Schizophrenia; Stroke Mutations in this gene result in altered nociception and neuron responses to isothiocyanate or thiosulfinate compounds like those found in mustard oil and garlic. TRP channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0009409;response to cold;IEA|GO:0010033;response to organic substance;IMP|GO:0014070;response to organic cyclic compound;IEA|GO:0019233;sensory perception of pain;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0048265;response to pain;IEA|GO:0050896;response to stimulus;IEA|GO:0050955;thermoception;IEA|GO:0050966;detection of mechanical stimulus involved in sensory perception of pain;IEA|GO:0050968;detection of chemical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;IDA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032421;stereocilium bundle;IEA GO:0005216;ion channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0015267;channel activity;TAS|GO:0015278;calcium-release channel activity;IDA|GO:0097604;temperature-gated cation channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRPA1 https://www.uniprot.org/uniprot/O75762 https://hpo.jax.org/app/browse/search?q=TRPA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604775 http://www.informatics.jax.org/searchtool/Search.do?query=TRPA1&submit=Quick%0D%3102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPA1 rs11423229 0.42512 0.3363 0.4261 1 0 0 intronic intronic intronic TRPA1 TRPA1 ENSG00000104321,ENSG00000235531 Na Na Na Na Na Na Het;A>C 237;6|11 Ref Hom;A>C 291;0|8 N N - 8 73993200 73993200 T G snp intronic SBSPON Sbspon ENSG00000164764 somatomedin B and thrombospondin type 1 domain containing chr8:73976775-74036323 Lipids; Crohn Disease O-glycosylation of TSR domain-containing proteins GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBSPON http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON rs10087744 0.446086 0 0 1 0 0 intronic intronic intronic SBSPON SBSPON ENSG00000164764 Na Na Na Na Na Na Het;T>G 331;13|13 Het;T>G 161;3|6 Hom;T>G 391;0|12 N N - 8 74440125 74440125 T TCAGGAAAATTCAAATAATTTA indel intronic STAU2 Stau2 ENSG00000040341 staufen double-stranded RNA binding protein 2 chr8:74332604-74659943 Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Multiple Sclerosis; Body Mass Index; Body Weight Changes GO:0006810;transport;IEA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STAU2 https://www.uniprot.org/uniprot/Q9NUL3 https://www.ncbi.nlm.nih.gov/omim/?term=605920 http://www.informatics.jax.org/searchtool/Search.do?query=STAU2&submit=Quick%0D%817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAU2 rs143916422 0.874002 0 0 1 0 0 intronic intronic intronic STAU2 STAU2 ENSG00000040341 Na Na Na Na Na Na Het;+CAGGAAAATTCAAATAATTTA 686;18|20 Het;+CAGGAAAATTCAAATAATTTA 952;22|26 Hom;+CAGGAAAATTCAAATAATTTA 2663;0|62 N N - 8 77776848 77776849 TA T indel UTR3 *47_*48delinsT ZFHX4 Zfhx4 ENSG00000091656 zinc finger homeobox 4 chr8:77593454-77779521 Height; height; Body Height; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFHX4 https://www.uniprot.org/uniprot/Q86UP3 https://hpo.jax.org/app/browse/search?q=ZFHX4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606940 http://www.informatics.jax.org/searchtool/Search.do?query=ZFHX4&submit=Quick%0D%2161ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFHX4 rs3830275 0 0.5863 0.6577 1 0 0 UTR3 UTR3 UTR3 ZFHX4(NM_024721:c.*47_*48delinsT) ZFHX4(uc003yau.2:c.*47_*48delinsT) ENSG00000091656(ENST00000521891:c.*47_*48delinsT,ENST00000455469:c.*47_*48delinsT,ENST00000518282:c.*47_*48delinsT) Na Na Na Na Na Na Het;-A 40;5|4 Het;-A 57;7|5 Hom;-A 399;0|17 N N - 8 80553863 80553875 GCACACACACACA G indel intronic STMN2 Stmn2 ENSG00000104435 stathmin 2 chr8:80523049-80578410 This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010] Creutzfeldt-Jakob disease; Hemoglobin A, Glycosylated; Blood Pressure Determination GO:0007026;negative regulation of microtubule depolymerization;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0031110;regulation of microtubule polymerization or depolymerization;IEA|GO:0031115;negative regulation of microtubule polymerization;IDA|GO:0031117;positive regulation of microtubule depolymerization;IDA|GO:1990090;cellular response to nerve growth factor stimulus;IDA GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IDA|GO:0031982;vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IBA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STMN2 https://www.uniprot.org/uniprot/Q93045 https://www.ncbi.nlm.nih.gov/omim/?term=600621 http://www.informatics.jax.org/searchtool/Search.do?query=STMN2&submit=Quick%0D%3125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STMN2 rs71266023 0 0 0 1 0 0 intronic intronic intronic STMN2 STMN2 ENSG00000104435 Na Na Na Na Na Na Het;-CACACACACACA 168;2|5 Ref Hom;-CACACACACACA 324;0|8 N N - 8 80678300 80678300 C CA indel intronic HEY1 Hey1 ENSG00000164683 hes related family bHLH transcription factor with YRPW motif 1 chr8:80676245-80680098 This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Bone Mineral Density Homozygous null mice are healthy and fertile with no major developmental defects. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001525;angiogenesis;IEP|GO:0003184;pulmonary valve morphogenesis;ISS|GO:0003190;atrioventricular valve formation;ISS|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0003208;cardiac ventricle morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007219;Notch signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0036304;umbilical cord morphogenesis;ISS|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;ISS|GO:0060347;heart trabecula formation;ISS|GO:0060411;cardiac septum morphogenesis;ISS|GO:0060412;ventricular septum morphogenesis;ISS|GO:0060716;labyrinthine layer blood vessel development;ISS|GO:0060842;arterial endothelial cell differentiation;ISS|GO:0061314;Notch signaling involved in heart development;IC|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IDA|GO:2000820;negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation;IDA|GO:2001212;regulation of vasculogenesis;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;ISS GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;ISS|GO:0000988;transcription factor activity, protein binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;NAS|GO:0035939;microsatellite binding;IDA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HEY1 https://www.ncbi.nlm.nih.gov/omim/?term=602953 http://www.informatics.jax.org/searchtool/Search.do?query=HEY1&submit=Quick%0D%11361ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HEY1 rs11448857 0.452875 0 0 1 0 0 intronic intronic intronic HEY1 HEY1 ENSG00000164683 Na Na Na Na Na Na Het;+A 53;6|4 Het;+A 99;6|6 Hom;+A 108;0|5 N N - 8 80678865 80678865 C A snp intronic HEY1 Hey1 ENSG00000164683 hes related family bHLH transcription factor with YRPW motif 1 chr8:80676245-80680098 This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Bone Mineral Density Homozygous null mice are healthy and fertile with no major developmental defects. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001525;angiogenesis;IEP|GO:0003184;pulmonary valve morphogenesis;ISS|GO:0003190;atrioventricular valve formation;ISS|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0003208;cardiac ventricle morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007219;Notch signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0036304;umbilical cord morphogenesis;ISS|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;ISS|GO:0060347;heart trabecula formation;ISS|GO:0060411;cardiac septum morphogenesis;ISS|GO:0060412;ventricular septum morphogenesis;ISS|GO:0060716;labyrinthine layer blood vessel development;ISS|GO:0060842;arterial endothelial cell differentiation;ISS|GO:0061314;Notch signaling involved in heart development;IC|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IDA|GO:2000820;negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation;IDA|GO:2001212;regulation of vasculogenesis;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;ISS GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;ISS|GO:0000988;transcription factor activity, protein binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;NAS|GO:0035939;microsatellite binding;IDA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HEY1 https://www.ncbi.nlm.nih.gov/omim/?term=602953 http://www.informatics.jax.org/searchtool/Search.do?query=HEY1&submit=Quick%0D%11361ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HEY1 rs960978 0.28734 0.3342 0.3129 1 0 0 intronic intronic intronic HEY1 HEY1 ENSG00000164683 Na Na Na Na Na Na Het;C>A 436;10|19 Het;C>A 314;18|18 Hom;C>A 991;0|39 N N - 8 80715263 80715263 A G snp ncRNA_intronic AK055332 rs12549430 0.258786 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101927040 AK055332 ENSG00000249328 Na Na Na Na Na Na Het;A>G 144;4|5 Het;A>G 109;6|4 Hom;A>G 176;0|5 N N - 8 81321066 81321066 G C snp intergenic MIR5708 rs3863244 0.331869 0 0 1 0 0 intergenic intergenic intergenic MIR5708(dist=167358),ZBTB10(dist=76788) MIR5708(dist=167358),DJ031142(dist=76702) ENSG00000252884(dist=3222),ENSG00000251867(dist=75730) Na Na Na Na Na Na Het;G>C 84;6|6 Het;G>C 124;4|7 Hom;G>C 323;0|12 N N - 8 81506995 81506995 C G snp downstream SLC25A51P3 rs72603863 0.216653 0 0 1 0 0 intergenic intergenic downstream ZBTB10(dist=68495),ZNF704(dist=33691) ZBTB10(dist=68495),ZNF704(dist=33691) ENSG00000254181 Na Na Na Na Na Na Het;C>G 637;44|28 Het;C>G 419;27|18 Hom;C>G 1621;0|55 N N - 8 82005639 82005639 C T snp intronic PAG1 Pag1 ENSG00000076641 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 chr8:81880045-82024303 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Heart Rate; Type 2 Diabetes| edema | rosiglitazone; Forced Expiratory Volume Mice homozygous for a knock-out allele are viable and exhibit no apparent defects in embryogenesis, thymic development, or T-cell functions. Mice homozygous for a different knock-out allele show normal T-cell development albeit with an increased thymocyte population. Phosphorylation of CD3 and TCR zeta chains GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0007165;signal transduction;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050863;regulation of T cell activation;IDA|GO:0050868;negative regulation of T cell activation;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;IDA GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;IBA|GO:0005070;SH3/SH2 adaptor activity;NAS|GO:0005515;protein binding;IPI|GO:0042169;SH2 domain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PAG1 https://www.uniprot.org/uniprot/Q9NWQ8 https://www.ncbi.nlm.nih.gov/omim/?term=605767 http://www.informatics.jax.org/searchtool/Search.do?query=PAG1&submit=Quick%0D%1589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAG1 rs4570109 0.661342 0 0 1 0 0 intronic intronic intronic PAG1 PAG1 ENSG00000076641 Na Na Na Na Na Na Het;C>T 164;1|7 Het;C>T 40;2|2 Hom;C>T 126;0|4 N N - 8 83601915 83601915 G C snp intergenic SNX16 Snx16 ENSG00000104497 sorting nexin 16 chr8:82711816-82755101 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Echocardiography; Glaucoma, Open-Angle GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0045022;early endosome to late endosome transport;IMP GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNX16 https://www.uniprot.org/uniprot/P57768 https://www.ncbi.nlm.nih.gov/omim/?term=614903 http://www.informatics.jax.org/searchtool/Search.do?query=SNX16&submit=Quick%0D%3131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX16 rs59055625 0.0764776 0 0 1 0 0 intergenic intergenic intergenic SNX16(dist=847394),LINC01419(dist=714078) SNX16(dist=847394),BC038578(dist=714078) ENSG00000253503(dist=12527),ENSG00000253836(dist=173099) Na Na Na Na Na Na Het;G>C 134;4|8 Het;G>C 39;6|3 Hom;G>C 445;0|19 N N - 8 83601965 83601965 T C snp intergenic SNX16 Snx16 ENSG00000104497 sorting nexin 16 chr8:82711816-82755101 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Echocardiography; Glaucoma, Open-Angle GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0045022;early endosome to late endosome transport;IMP GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNX16 https://www.uniprot.org/uniprot/P57768 https://www.ncbi.nlm.nih.gov/omim/?term=614903 http://www.informatics.jax.org/searchtool/Search.do?query=SNX16&submit=Quick%0D%3131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX16 rs11996822 0.165136 0 0 1 0 0 intergenic intergenic intergenic SNX16(dist=847444),LINC01419(dist=714028) SNX16(dist=847444),BC038578(dist=714028) ENSG00000253503(dist=12577),ENSG00000253836(dist=173049) Na Na Na Na Na Na Het;T>C 140;2|8 Ref Hom;T>C 368;0|13 N N - 8 84124078 84124078 T C snp intergenic SNX16 Snx16 ENSG00000104497 sorting nexin 16 chr8:82711816-82755101 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Echocardiography; Glaucoma, Open-Angle GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0045022;early endosome to late endosome transport;IMP GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNX16 https://www.uniprot.org/uniprot/P57768 https://www.ncbi.nlm.nih.gov/omim/?term=614903 http://www.informatics.jax.org/searchtool/Search.do?query=SNX16&submit=Quick%0D%3131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX16 rs13256751 0.263379 0 0 1 0 0 intergenic intergenic intergenic SNX16(dist=1369557),LINC01419(dist=191915) SNX16(dist=1369557),BC038578(dist=191915) ENSG00000253423(dist=9412),ENSG00000253898(dist=191915) Na Na Na Na Na Na Het;T>C 551;20|22 Het;T>C 360;25|18 Hom;T>C 1656;0|61 N N - 8 84124239 84124239 C T snp intergenic SNX16 Snx16 ENSG00000104497 sorting nexin 16 chr8:82711816-82755101 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Prostatic Neoplasms; Echocardiography; Glaucoma, Open-Angle GO:0006622;protein targeting to lysosome;IMP|GO:0006810;transport;IEA|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0045022;early endosome to late endosome transport;IMP GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0031313;extrinsic component of endosome membrane;IDA|GO:0031901;early endosome membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0008289;lipid binding;IEA|GO:0035091;phosphatidylinositol binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNX16 https://www.uniprot.org/uniprot/P57768 https://www.ncbi.nlm.nih.gov/omim/?term=614903 http://www.informatics.jax.org/searchtool/Search.do?query=SNX16&submit=Quick%0D%3131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX16 rs13254994 0.263578 0 0 1 0 0 intergenic intergenic intergenic SNX16(dist=1369718),LINC01419(dist=191754) SNX16(dist=1369718),BC038578(dist=191754) ENSG00000253423(dist=9573),ENSG00000253898(dist=191754) Na Na Na Na Na Na Het;C>T 324;4|12 Het;C>T 118;5|6 Hom;C>T 594;0|20 N N - 8 86375998 86375998 A AGGAGCCCC indel upstream CA2 Car2 ENSG00000104267 carbonic anhydrase 2 chr8:86376081-86393722 The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] Osteoporosis Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency. Reversible hydration of carbon dioxide GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0010033;response to organic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0015670;carbon dioxide transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0032849;positive regulation of cellular pH reduction;IEA|GO:0038166;angiotensin-activated signaling pathway;IDA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043627;response to estrogen;IEA|GO:0044070;regulation of anion transport;IDA|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0046903;secretion;IEA|GO:0048545;response to steroid hormone;IEA|GO:0051453;regulation of intracellular pH;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:2001150;positive regulation of dipeptide transmembrane transport;IEA|GO:2001225;regulation of chloride transport;IEA GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030424;axon;IEA|GO:0043209;myelin sheath;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0004064;arylesterase activity;IMP|GO:0004089;carbonate dehydratase activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA2 https://www.uniprot.org/uniprot/P00918 https://hpo.jax.org/app/browse/search?q=CA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611492 http://www.informatics.jax.org/searchtool/Search.do?query=CA2&submit=Quick%0D%3096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA2 rs77895131 0.482029 0 0 1 0 0 ncRNA_intronic upstream ncRNA_intronic LOC100996348 CA2 ENSG00000253549 Na Na Na Na Na Na Het;+GGAGCCCC 188;2|4 Ref Hom;+GGAGCCCC 188;0|5 N N - 8 8791194 8791194 T C snp downstream AC087763.1 rs28405613 0.198682 0 0 1 0 0 intergenic intergenic downstream MFHAS1(dist=40063),ERI1(dist=69120) MFHAS1(dist=40063),ERI1(dist=69120) ENSG00000270966 Na Na Na Na Na Na Het;T>C 78;6|4 Ref Hom;T>C 616;0|23 N N - 8 8791253 8791253 C A snp ncRNA_exonic AC087763.1 rs4841072 0.490615 0 0 1 0 0 intergenic intergenic ncRNA_exonic MFHAS1(dist=40122),ERI1(dist=69061) MFHAS1(dist=40122),ERI1(dist=69061) ENSG00000270966 Na Na Na Na Na Na Het;C>A 422;10|20 Ref Hom;C>A 1021;2|42 N N - 8 8791508 8791508 C T snp ncRNA_exonic AC087763.1 rs17154962 0.184904 0 0 1 0 0 intergenic intergenic ncRNA_exonic MFHAS1(dist=40377),ERI1(dist=68806) MFHAS1(dist=40377),ERI1(dist=68806) ENSG00000270966 Na Na Na Na Na Na Het;C>T 129;13|7 Ref Hom;C>T 364;0|13 N N - 8 8952019 8952019 T G snp intergenic MIR4660 rs4841098 0.363019 0 0 1 0 0 intergenic intergenic intergenic MIR4660(dist=45991),PPP1R3B(dist=41745) MIR4660(dist=45991),PPP1R3B(dist=41745) NONE(dist=NONE),NONE(dist=NONE) Na Na Na Na Na Na Het;T>G 151;6|6 Ref Hom;T>G 102;0|4 N N - 8 91094983 91094983 G A snp UTR5 -58C>T CALB1 Calb1 ENSG00000104327 calbindin 1 chr8:91070836-91107703 The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015] Cholesterol; Parkinson's disease ; Creatinine; Natriuretic Peptide, Brain; Glomerular Filtration Rate; Hip Homozygous targeted mutants show severely impairment in motor coordination and Purkinje cells in the cerebellum show changes of synaptically evoked postsynaptic calcium transients. Amyloid fiber formation GO:0007611;learning or memory;IEA|GO:0007614;short-term memory;IMP|GO:0007616;long-term memory;IMP|GO:0007626;locomotory behavior;IEA|GO:0010842;retina layer formation;IEA|GO:0035502;metanephric part of ureteric bud development;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0048167;regulation of synaptic plasticity;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IEA|GO:0055074;calcium ion homeostasis;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0072205;metanephric collecting duct development;IEA|GO:0072221;metanephric distal convoluted tubule development;IEA|GO:0072286;metanephric connecting tubule development;IEA|GO:0099509;regulation of presynaptic cytosolic calcium ion concentration;IEA|GO:1900271;regulation of long-term synaptic potentiation;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030424;axon;IDA|GO:0030425;dendrite;IDA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;IEA|GO:0043197;dendritic spine;IEA|GO:0044297;cell body;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0005499;vitamin D binding;IEA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CALB1 https://www.uniprot.org/uniprot/P05937 https://www.ncbi.nlm.nih.gov/omim/?term=114050 http://www.informatics.jax.org/searchtool/Search.do?query=CALB1&submit=Quick%0D%3105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALB1 rs3087750 0.39976 0.5438 0 1 0 0 UTR5 UTR5 UTR5 CALB1(NM_004929:c.-58C>T) CALB1(uc003yel.1:c.-58C>T) ENSG00000104327(ENST00000265431:c.-58C>T) Na Na Na Na Na Na Het;G>A 266;16|13 Het;G>A 122;15|7 Hom;G>A 436;0|18 N N - 8 92364100 92364100 T C snp synonymous SNV T1203C L401L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC26A7 Slc26a7 ENSG00000147606 solute carrier family 26 member 7 chr8:92221722-92410378 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013] Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate. Urine is more concentrated and has an elevated pH. Multifunctional anion exchangers GO:0001696;gastric acid secretion;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006820;anion transport;IEA|GO:0006821;chloride transport;IDA|GO:0008272;sulfate transport;IEA|GO:0015701;bicarbonate transport;ISS|GO:0019532;oxalate transport;IDA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0055038;recycling endosome membrane;IEA GO:0005253;anion channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;ISS|GO:0015116;sulfate transmembrane transporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA|GO:0019531;oxalate transmembrane transporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC26A7 https://www.uniprot.org/uniprot/Q8TE54 https://www.ncbi.nlm.nih.gov/omim/?term=608479 http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A7&submit=Quick%0D%9028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A7 rs10109254 0.221046 0.3009 0.2437 1 0 0 exonic exonic exonic SLC26A7 SLC26A7 ENSG00000147606 synonymous SNV synonymous SNV unknown SLC26A7:NM_001282356:exon11:c.T1203C:p.L401L,SLC26A7:NM_001282357:exon10:c.T300C:p.L100L,SLC26A7:NM_052832:exon10:c.T1203C:p.L401L,SLC26A7:NM_134266:exon10:c.T1203C:p.L401L, SLC26A7:uc003yez.3:exon10:c.T1203C:p.L401L,SLC26A7:uc003yfa.3:exon10:c.T1203C:p.L401L,SLC26A7:uc003yex.3:exon11:c.T1203C:p.L401L, UNKNOWN Het;T>C 859;39|42 Het;T>C 740;76|43 Hom;T>C 3728;0|139 N N - 8 957969 957969 A C snp ncRNA_intronic ENSG00000237647 rs12674921 0.399361 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic ERICH1-AS1 ERICH1-AS1 ENSG00000237647 Na Na Na Na Na Na Het;A>C 911;22|24 Het;A>C 527;25|15 Hom;A>C 1471;0|34 N N - 8 957976 957976 G A snp ncRNA_intronic ENSG00000237647 rs12680707 0.391174 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic ERICH1-AS1 ERICH1-AS1 ENSG00000237647 Na Na Na Na Na Na Het;G>A 954;22|26 Het;G>A 559;24|16 Hom;G>A 1446;0|33 N N - 8 96047806 96047806 T TA indel splicing 264+2T>TA NDUFAF6 Ndufaf6 ENSG00000156170 NADH:ubiquinone oxidoreductase complex assembly factor 6 chr8:95907995-96128683 This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011] Waist-Hip Ratio; Acquired Immunodeficiency Syndrome|Disease Progression; Response to radiation Complex I biogenesis GO:0009058;biosynthetic process;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDUFAF6 https://www.uniprot.org/uniprot/Q330K2 https://hpo.jax.org/app/browse/search?q=NDUFAF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612392 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFAF6&submit=Quick%0D%9948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFAF6 rs34960210 0.63758 0.5706 0.5179 1 0 0 splicing splicing splicing NDUFAF6(NM_152416:exon3:c.420+2T>TA) NDUFAF6(uc003yhi.3:exon4:c.264+2T>TA,uc003yhj.3:exon3:c.420+2T>TA) ENSG00000156170(ENST00000523378:exon5:c.144+2T>TA,ENST00000396113:exon9:c.144+2T>TA,ENST00000519136:exon5:c.87+2T>TA,ENST00000396111:exon4:c.144+2T>TA,ENST00000542894:exon3:c.264+2T>TA,ENST00000396124:exon3:c.420+2T>TA,ENST00000518258:exon4:c.539+2T>TA,ENST00000523337:exon4:c.539+2T>TA,ENST00000517976:exon3:c.412+2T>TA,ENST00000520632:exon3:c.400+2T>TA,ENST00000522683:exon4:c.482+2T>TA,ENST00000520757:exon3:c.361+2T>TA,ENST00000454358:exon3:c.365+2T>TA,ENST00000518608:exon2:c.261+2T>TA,ENST00000519804:exon2:c.87+2T>TA) Na Na Na Na Na Na Het;+A 429;7|22 Het;+A 259;6|15 Hom;+A 298;2|15 N N - 9 101061 101061 A G snp ncRNA_exonic AY343902 rs4642756 0.550919 0 0 1 0 0 intergenic ncRNA_exonic ncRNA_exonic PGM5P3-AS1(dist=12235),FOXD4(dist=15170) AY343902 ENSG00000227917 Na Na Na Na Na Na Het;A>G 603;20|23 Het;A>G 492;11|17 Hom;A>G 979;0|30 N N - 9 101795764 101795764 T C snp intronic COL15A1 Col15a1 ENSG00000204291 collagen type XV alpha 1 chain chr9:101705461-101833069 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] Thyrotropin; Scleroderma, Systemic; kidney aging Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030574;collagen catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005582;collagen type XV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0016021;integral component of membrane;NAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;IEA|GO:0005201;extracellular matrix structural constituent;IC http://www.genecards.org/index.php?path=/Search/keyword/COL15A1 https://www.ncbi.nlm.nih.gov/omim/?term=120325 http://www.informatics.jax.org/searchtool/Search.do?query=COL15A1&submit=Quick%0D%17248ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL15A1 rs11792253 0.181709 0 0 1 0 0 intronic intronic intronic COL15A1 COL15A1 ENSG00000204291 Na Na Na Na Na Na Het;T>C 50;3|4 Ref Hom;T>C 71;0|4 N N - 9 104172936 104172936 A C snp UTR3 *1005A>C ZNF189 Zfp189 ENSG00000136870 zinc finger protein 189 chr9:104161155-104172942 Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010] Cleft Lip|Cleft Palate Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF189 https://www.uniprot.org/uniprot/O75820 https://www.ncbi.nlm.nih.gov/omim/?term=603132 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF189&submit=Quick%0D%7424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF189 rs546577 0.558906 0 0 1 0 0 UTR3 UTR3 UTR3 ZNF189(NM_197977:c.*1005A>C,NM_001278232:c.*1005A>C,NM_001278231:c.*1005A>C,NM_003452:c.*1005A>C,NM_001278240:c.*2707A>C) ZNF189(uc031tep.1:c.*1005A>C,uc031teq.1:c.*2707A>C,uc004bbg.2:c.*1005A>C,uc004bbi.2:c.*1005A>C,uc004bbh.2:c.*1005A>C,uc011lvk.2:c.*1005A>C,uc022ble.1:c.*1005A>C) ENSG00000136870(ENST00000374861:c.*1005A>C,ENST00000259395:c.*1005A>C,ENST00000339664:c.*1005A>C) Na Na Na Na Na Na Het;A>C 372;24|18 Het;A>C 335;18|15 Hom;A>C 1099;2|37 N N - 9 104182940 104182940 T C snp UTR3 *1151A>G ALDOB Aldob ENSG00000136872 aldolase, fructose-bisphosphate B chr9:104182860-104198105 Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] diabetes, type 2; Alkaline Phosphatase; hepatocellular carcinoma; hereditary fructose intolerance.; hepatitis C; null Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. Fructose catabolism GO:0006000;fructose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IDA|GO:0006116;NADH oxidation;IDA|GO:0030388;fructose 1,6-bisphosphate metabolic process;IDA|GO:0032781;positive regulation of ATPase activity;IGI|GO:0061621;canonical glycolysis;TAS|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IGI GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0034451;centriolar satellite;IDA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004332;fructose-bisphosphate aldolase activity;EXP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0051117;ATPase binding;IDA|GO:0061609;fructose-1-phosphate aldolase activity;IDA|GO:0070061;fructose binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ALDOB https://www.uniprot.org/uniprot/P05062 https://hpo.jax.org/app/browse/search?q=ALDOB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612724 http://www.informatics.jax.org/searchtool/Search.do?query=ALDOB&submit=Quick%0D%7425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDOB rs491979 0.497804 0 0 1 0 0 UTR3 UTR3 UTR3 ALDOB(NM_000035:c.*1151A>G) ALDOB(uc004bbk.2:c.*1151A>G) ENSG00000136872(ENST00000374855:c.*1151A>G) Na Na Na Na Na Na Het;T>C 1455;68|62 Het;T>C 1512;79|76 Hom;T>C 4269;2|153 N N - 9 104184022 104184022 G A snp UTR3 *69C>T ALDOB Aldob ENSG00000136872 aldolase, fructose-bisphosphate B chr9:104182860-104198105 Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] diabetes, type 2; Alkaline Phosphatase; hepatocellular carcinoma; hereditary fructose intolerance.; hepatitis C; null Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. Fructose catabolism GO:0006000;fructose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IDA|GO:0006116;NADH oxidation;IDA|GO:0030388;fructose 1,6-bisphosphate metabolic process;IDA|GO:0032781;positive regulation of ATPase activity;IGI|GO:0061621;canonical glycolysis;TAS|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IGI GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0034451;centriolar satellite;IDA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004332;fructose-bisphosphate aldolase activity;EXP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0051117;ATPase binding;IDA|GO:0061609;fructose-1-phosphate aldolase activity;IDA|GO:0070061;fructose binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ALDOB https://www.uniprot.org/uniprot/P05062 https://hpo.jax.org/app/browse/search?q=ALDOB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612724 http://www.informatics.jax.org/searchtool/Search.do?query=ALDOB&submit=Quick%0D%7425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDOB rs4577 0.441893 0 0.4466 1 0 0 UTR3 UTR3 UTR3 ALDOB(NM_000035:c.*69C>T) ALDOB(uc004bbk.2:c.*69C>T) ENSG00000136872(ENST00000374855:c.*69C>T) Na Na Na Na Na Na Het;G>A 2168;67|90 Het;G>A 1744;68|70 Hom;G>A 3981;0|140 N N - 9 104187041 104187041 A G snp intronic ALDOB Aldob ENSG00000136872 aldolase, fructose-bisphosphate B chr9:104182860-104198105 Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] diabetes, type 2; Alkaline Phosphatase; hepatocellular carcinoma; hereditary fructose intolerance.; hepatitis C; null Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. Fructose catabolism GO:0006000;fructose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IDA|GO:0006116;NADH oxidation;IDA|GO:0030388;fructose 1,6-bisphosphate metabolic process;IDA|GO:0032781;positive regulation of ATPase activity;IGI|GO:0061621;canonical glycolysis;TAS|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IGI GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0034451;centriolar satellite;IDA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004332;fructose-bisphosphate aldolase activity;EXP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0051117;ATPase binding;IDA|GO:0061609;fructose-1-phosphate aldolase activity;IDA|GO:0070061;fructose binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ALDOB https://www.uniprot.org/uniprot/P05062 https://hpo.jax.org/app/browse/search?q=ALDOB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612724 http://www.informatics.jax.org/searchtool/Search.do?query=ALDOB&submit=Quick%0D%7425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDOB rs681 0.551518 0 0 1 0 0 intronic intronic intronic ALDOB ALDOB ENSG00000136872 Na Na Na Na Na Na Het;A>G 48;9|3 Het;A>G 98;3|4 Hom;A>G 226;0|7 N N - 9 104187400 104187400 A G snp intronic ALDOB Aldob ENSG00000136872 aldolase, fructose-bisphosphate B chr9:104182860-104198105 Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] diabetes, type 2; Alkaline Phosphatase; hepatocellular carcinoma; hereditary fructose intolerance.; hepatitis C; null Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. Fructose catabolism GO:0006000;fructose metabolic process;IMP|GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IDA|GO:0006116;NADH oxidation;IDA|GO:0030388;fructose 1,6-bisphosphate metabolic process;IDA|GO:0032781;positive regulation of ATPase activity;IGI|GO:0061621;canonical glycolysis;TAS|GO:0061624;fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IGI GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0034451;centriolar satellite;IDA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004332;fructose-bisphosphate aldolase activity;EXP|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IDA|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0051117;ATPase binding;IDA|GO:0061609;fructose-1-phosphate aldolase activity;IDA|GO:0070061;fructose binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ALDOB https://www.uniprot.org/uniprot/P05062 https://hpo.jax.org/app/browse/search?q=ALDOB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612724 http://www.informatics.jax.org/searchtool/Search.do?query=ALDOB&submit=Quick%0D%7425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDOB rs506571 0.45008 0 0 1 0 0 intronic intronic intronic ALDOB ALDOB ENSG00000136872 Na Na Na Na Na Na Het;A>G 497;13|17 Het;A>G 399;22|15 Hom;A>G 833;0|28 N N - 9 105968672 105968672 C T snp ncRNA_intronic BC035187 rs12337347 0.20607 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01492 BC035187 ENSG00000225564 Na Na Na Na Na Na Het;C>T 1000;35|41 Het;C>T 545;24|26 Hom;C>T 1914;3|77 N N - 9 10618114 10618114 T A snp ncRNA_exonic PTPRD-AS2 rs2382223 0.84365 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic PTPRD-AS2 PTPRD(dist=5391),JB175300(dist=1135920) ENSG00000226717 Na Na Na Na Na Na Het;T>A 578;29|26 Het;T>A 304;28|17 Hom;T>A 1165;0|27 N N - 9 107562804 107562804 T C snp nonsynonymous SNV A4760G K1587R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ABCA1 Abca1 ENSG00000165029 ATP binding cassette subfamily A member 1 chr9:107543283-107690518 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008] Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome| Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. HDL assembly GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA1 https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600046 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1 rs2230808 0.538339 0.5850 0.6936 0.46 6 13 exonic exonic exonic ABCA1 ABCA1 ENSG00000165029 nonsynonymous SNV nonsynonymous SNV unknown ABCA1:NM_005502:exon35:c.A4760G:p.K1587R, ABCA1:uc004bcl.3:exon35:c.A4760G:p.K1587R, UNKNOWN Het;T>C 536;18|21 Het;T>C 533;25|26 Hom;T>C 1352;0|51 N N - 9 107564570 107564572 CAG C indel intronic ABCA1 Abca1 ENSG00000165029 ATP binding cassette subfamily A member 1 chr9:107543283-107690518 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008] Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome| Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. HDL assembly GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA1 https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600046 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1 rs373740929 0.530551 0 0 1 0 0 intronic intronic intronic ABCA1 ABCA1 ENSG00000165029 Na Na Na Na Na Na Het;-AG 689;7|18 Het;-AG 158;4|5 Hom;-AG 541;0|13 N N - 9 109234565 109234586 GTTATTATTATTATTATTATTA G indel ncRNA_intronic BC017988 rs764937300 0 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic TMEM38B(dist=695673),MIR8081(dist=128623) BC017988 ENSG00000234323 Na Na Na Na Na Na Het;-TTATTATTATTATTATTATTA 46;2|2 Ref Hom;-TTATTATTATTATTATTATTA 585;0|14 N N - 9 110801608 110801608 C A snp upstream AC068050.1 rs10816618 0.529952 0 0 1 0 0 intergenic intergenic upstream KLF4(dist=549561),ACTL7B(dist=815261) 5S_rRNA(dist=120349),ACTL7B(dist=815261) ENSG00000213557 Na Na Na Na Na Na Het;C>A 138;5|5 Ref Hom;C>A 135;0|5 N N - 9 111401426 111401426 G C snp intergenic KLF4 Klf4 ENSG00000136826 Kruppel like factor 4 chr9:110247133-110252763 This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] Type 2 diabetes; diabetes, type 2; Electrocardiography; Myocardial Infarction Homozygotes for targeted null mutations die shortly after birth due to a skin defect that results in loss of fluids. Mutants also show a dramatic decrease in the number of goblet cells of the colon. Transcriptional regulation of pluripotent stem cells GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007500;mesodermal cell fate determination;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009913;epidermal cell differentiation;IEA|GO:0010033;response to organic substance;IEA|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IGI|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0031077;post-embryonic camera-type eye development;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032526;response to retinoic acid;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035166;post-embryonic hemopoiesis;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045415;negative regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045444;fat cell differentiation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;IMP|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048730;epidermis morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0051247;positive regulation of protein metabolic process;IGI|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060761;negative regulation of response to cytokine stimulus;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071409;cellular response to cycloheximide;IEA|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:1901653;cellular response to peptide;IEA|GO:1904798;positive regulation of core promoter binding;IEA|GO:1904998;negative regulation of leukocyte adhesion to arterial endothelial cell;IGI|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007500;mesodermal cell fate determination;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009913;epidermal cell differentiation;IEA|GO:0010033;response to organic substance;IEA|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IGI|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0031077;post-embryonic camera-type eye development;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032526;response to retinoic acid;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035166;post-embryonic hemopoiesis;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045415;negative regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045444;fat cell differentiation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;IMP|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048730;epidermis morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0051247;positive regulation of protein metabolic process;IGI|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060761;negative regulation of response to cytokine stimulus;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071409;cellular response to cycloheximide;IEA|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:1901653;cellular response to peptide;IEA|GO:1904798;positive regulation of core promoter binding;IEA|GO:1904998;negative regulation of leukocyte adhesion to arterial endothelial cell;IGI|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;IDA GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005719;nuclear euchromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0044798;nuclear transcription factor complex;IEA GO:0000975;regulatory region DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001010;transcription factor activity, sequence-specific DNA binding transcription factor recruiting;IEA|GO:0001047;core promoter binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001085;RNA polymerase II transcription factor binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IDA|GO:0001221;transcription cofactor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KLF4 https://www.uniprot.org/uniprot/O43474 https://www.ncbi.nlm.nih.gov/omim/?term=602253 http://www.informatics.jax.org/searchtool/Search.do?query=KLF4&submit=Quick%0D%45ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF4 rs7867135 0.063099 0 0 1 0 0 intergenic intergenic intergenic KLF4(dist=1149379),ACTL7B(dist=215443) 5S_rRNA(dist=720167),ACTL7B(dist=215443) ENSG00000169253(dist=11996),ENSG00000231678(dist=62224) Na Na Na Na Na Na Het;G>C 201;6|10 Ref Hom;G>C 572;0|22 N N - 9 111401466 111401466 T G snp intergenic KLF4 Klf4 ENSG00000136826 Kruppel like factor 4 chr9:110247133-110252763 This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] Type 2 diabetes; diabetes, type 2; Electrocardiography; Myocardial Infarction Homozygotes for targeted null mutations die shortly after birth due to a skin defect that results in loss of fluids. Mutants also show a dramatic decrease in the number of goblet cells of the colon. Transcriptional regulation of pluripotent stem cells GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007500;mesodermal cell fate determination;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009913;epidermal cell differentiation;IEA|GO:0010033;response to organic substance;IEA|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IGI|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0031077;post-embryonic camera-type eye development;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032526;response to retinoic acid;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035166;post-embryonic hemopoiesis;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045415;negative regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045444;fat cell differentiation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;IMP|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048730;epidermis morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0051247;positive regulation of protein metabolic process;IGI|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060761;negative regulation of response to cytokine stimulus;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071409;cellular response to cycloheximide;IEA|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:1901653;cellular response to peptide;IEA|GO:1904798;positive regulation of core promoter binding;IEA|GO:1904998;negative regulation of leukocyte adhesion to arterial endothelial cell;IGI|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007500;mesodermal cell fate determination;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0009913;epidermal cell differentiation;IEA|GO:0010033;response to organic substance;IEA|GO:0010628;positive regulation of gene expression;IGI|GO:0010629;negative regulation of gene expression;IGI|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0014740;negative regulation of muscle hyperplasia;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0030154;cell differentiation;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0031077;post-embryonic camera-type eye development;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032526;response to retinoic acid;IEA|GO:0034115;negative regulation of heterotypic cell-cell adhesion;IDA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0035166;post-embryonic hemopoiesis;IMP|GO:0042127;regulation of cell proliferation;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0043551;regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045415;negative regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045444;fat cell differentiation;IEA|GO:0045595;regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;IMP|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0048679;regulation of axon regeneration;IEA|GO:0048730;epidermis morphogenesis;IEA|GO:0050728;negative regulation of inflammatory response;TAS|GO:0051247;positive regulation of protein metabolic process;IGI|GO:0051898;negative regulation of protein kinase B signaling;IEA|GO:0051973;positive regulation of telomerase activity;IDA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060761;negative regulation of response to cytokine stimulus;IDA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071363;cellular response to growth factor stimulus;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071409;cellular response to cycloheximide;IEA|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:1901653;cellular response to peptide;IEA|GO:1904798;positive regulation of core promoter binding;IEA|GO:1904998;negative regulation of leukocyte adhesion to arterial endothelial cell;IGI|GO:2000342;negative regulation of chemokine (C-X-C motif) ligand 2 production;IDA GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005719;nuclear euchromatin;IEA|GO:0005737;cytoplasm;IEA|GO:0044798;nuclear transcription factor complex;IEA GO:0000975;regulatory region DNA binding;IEA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0001010;transcription factor activity, sequence-specific DNA binding transcription factor recruiting;IEA|GO:0001047;core promoter binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001085;RNA polymerase II transcription factor binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IDA|GO:0001221;transcription cofactor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0035014;phosphatidylinositol 3-kinase regulator activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KLF4 https://www.uniprot.org/uniprot/O43474 https://www.ncbi.nlm.nih.gov/omim/?term=602253 http://www.informatics.jax.org/searchtool/Search.do?query=KLF4&submit=Quick%0D%45ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF4 rs7853282 0.0692891 0 0 1 0 0 intergenic intergenic intergenic KLF4(dist=1149419),ACTL7B(dist=215403) 5S_rRNA(dist=720207),ACTL7B(dist=215403) ENSG00000169253(dist=12036),ENSG00000231678(dist=62184) Na Na Na Na Na Na Het;T>G 184;21|14 Ref Hom;T>G 1269;0|47 N N - 9 111640524 111640524 G C snp intronic IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs3818875 0.245807 0 0 1 0 0 intronic intronic intronic IKBKAP IKBKAP ENSG00000070061 Na Na Na Na Na Na Het;G>C 557;10|20 Het;G>C 291;21|13 Hom;G>C 1425;0|47 N N - 9 111640553 111640553 T G snp intronic IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs10435855 0.247404 0 0 1 0 0 intronic intronic intronic IKBKAP IKBKAP ENSG00000070061 Na Na Na Na Na Na Het;T>G 365;5|12 Het;T>G 159;11|8 Hom;T>G 651;0|21 N N - 9 111640595 111640595 A G snp intronic IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs10435833 0.247005 0 0 1 0 0 intronic intronic intronic IKBKAP IKBKAP ENSG00000070061 Na Na Na Na Na Na Het;A>G 125;2|4 Ref Hom;A>G 270;0|8 N N - 9 111641825 111641825 G A snp nonsynonymous SNV C2426T P809L hydrophobic,neutral aliphatic,hydrophobic,neutral IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs1538660 0.245008 0.2119 0.1988 0.15 2 13 exonic exonic exonic IKBKAP IKBKAP ENSG00000070061 nonsynonymous SNV nonsynonymous SNV unknown IKBKAP:NM_003640:exon33:c.C3473T:p.P1158L, IKBKAP:uc004bdl.3:exon25:c.C2426T:p.P809L,IKBKAP:uc004bdm.4:exon33:c.C3473T:p.P1158L,IKBKAP:uc011lwc.2:exon33:c.C3131T:p.P1044L,IKBKAP:uc010mtq.3:exon26:c.C2426T:p.P809L,IKBKAP:uc004bdk.3:exon6:c.C485T:p.P162L, UNKNOWN Het;G>A 1974;73|85 Het;G>A 1608;83|73 Hom;G>A 4256;4|152 N N - 9 111641911 111641915 GAACT G indel intronic IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs10550153 0.245607 0 0 1 0 0 intronic intronic intronic IKBKAP IKBKAP ENSG00000070061 Na Na Na Na Na Na Het;-AACT 882;21|24 Het;-AACT 422;15|12 Hom;-AACT 1636;2|40 N N - 9 111643875 111643875 G A snp intronic IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs7873793 0.245407 0 0 1 0 0 intronic intronic intronic IKBKAP IKBKAP ENSG00000070061 Na Na Na Na Na Na Het;G>A 154;2|6 Ref Hom;G>A 195;0|8 N N - 9 111651620 111651620 A T snp nonsynonymous SNV T2167A C723S polar,hydrophobic,neutral polar,hydrophilic,neutral IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs3204145 0.245807 0.2125 0.1984 0.46 6 13 exonic exonic exonic IKBKAP IKBKAP ENSG00000070061 nonsynonymous SNV nonsynonymous SNV unknown IKBKAP:NM_003640:exon29:c.T3214A:p.C1072S, IKBKAP:uc004bdl.3:exon21:c.T2167A:p.C723S,IKBKAP:uc004bdm.4:exon29:c.T3214A:p.C1072S,IKBKAP:uc011lwc.2:exon29:c.T2872A:p.C958S,IKBKAP:uc010mtq.3:exon22:c.T2167A:p.C723S,IKBKAP:uc004bdk.3:exon2:c.T226A:p.C76S, UNKNOWN Het;A>T 367;32|20 Het;A>T 305;43|18 Hom;A>T 1432;4|58 N N - 9 111678428 111678428 T A snp intronic IKBKAP Ikbkap ENSG00000070061 elongator complex protein 1 chr9:111629797-111696396 The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Arthritis, Rheumatoid; respiratory syncytial virus bronchiolitis; Body Weight; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Hereditary Sensory and Autonomic Neuropathies; bronchodilator response; Type 2 Diabetes| edema | rosiglitazone; Arthritis, Rheumatoid|; blood pressure, arterial hypertension; Bronchial asthma (childhood & adult); Congenital Heart Defects|Heart Defects, Congenital; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchial asthma (childhood only); familial dysautonomia; Genetic Diseases, Inborn; Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. HATs acetylate histones GO:0002098;tRNA wobble uridine modification;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0045859;regulation of protein kinase activity;IEA GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0008023;transcription elongation factor complex;IDA|GO:0033588;Elongator holoenzyme complex;IEA GO:0000993;RNA polymerase II core binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008607;phosphorylase kinase regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IKBKAP https://www.uniprot.org/uniprot/O95163 https://www.ncbi.nlm.nih.gov/omim/?term=603722 http://www.informatics.jax.org/searchtool/Search.do?query=IKBKAP&submit=Quick%0D%1341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IKBKAP rs1772046 0.590056 0 0 1 0 0 intronic intronic intronic IKBKAP IKBKAP ENSG00000070061 Na Na Na Na Na Na Het;T>A 459;16|19 Het;T>A 443;9|17 Hom;T>A 876;0|29 N N - 9 111800234 111800234 G A snp intronic TMEM245 Tmem245 ENSG00000106771 transmembrane protein 245 chr9:111777432-111882225 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM245 https://www.uniprot.org/uniprot/Q9H330 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM245&submit=Quick%0D%3547ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM245 rs534286 0.649161 0 0 1 0 0 intronic intronic intronic TMEM245 TMEM245 ENSG00000106771 Na Na Na Na Na Na Het;G>A 257;10|12 Het;G>A 156;15|9 Hom;G>A 470;0|18 N N - 9 112020668 112020668 T C snp intronic EPB41L4B Epb41l4b ENSG00000095203 erythrocyte membrane protein band 4.1 like 4B chr9:111934255-112083244 Tobacco Use Disorder GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B https://www.uniprot.org/uniprot/Q9H329 https://www.ncbi.nlm.nih.gov/omim/?term=610340 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B rs745388 0.341853 0 0 1 0 0 intronic intronic intronic EPB41L4B EPB41L4B ENSG00000095203 Na Na Na Na Na Na Het;T>C 353;16|12 Ref Hom;T>C 416;0|14 N N - 9 112025473 112025473 C A snp intronic EPB41L4B Epb41l4b ENSG00000095203 erythrocyte membrane protein band 4.1 like 4B chr9:111934255-112083244 Tobacco Use Disorder GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B https://www.uniprot.org/uniprot/Q9H329 https://www.ncbi.nlm.nih.gov/omim/?term=610340 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B rs1982226 0.965855 0 0 1 0 0 intronic intronic intronic EPB41L4B EPB41L4B ENSG00000095203 Na Na Na Na Na Na Het;C>A 62;4|3 Het;C>A 105;3|4 Hom;C>A 199;0|6 N N - 9 112042298 112042298 A G snp intronic EPB41L4B Epb41l4b ENSG00000095203 erythrocyte membrane protein band 4.1 like 4B chr9:111934255-112083244 Tobacco Use Disorder GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B https://www.uniprot.org/uniprot/Q9H329 https://www.ncbi.nlm.nih.gov/omim/?term=610340 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B rs10979794 0.145367 0 0 1 0 0 intronic intronic intronic EPB41L4B EPB41L4B ENSG00000095203 Na Na Na Na Na Na Het;A>G 121;3|4 Ref Hom;A>G 259;0|9 N N - 9 112082510 112082510 C T snp nonsynonymous SNV G217A V73M aliphatic,hydrophobic,neutral hydrophobic,neutral EPB41L4B Epb41l4b ENSG00000095203 erythrocyte membrane protein band 4.1 like 4B chr9:111934255-112083244 Tobacco Use Disorder GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B https://www.uniprot.org/uniprot/Q9H329 https://www.ncbi.nlm.nih.gov/omim/?term=610340 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B rs117569740 0.0938498 0.0856 0.2446 0.50 6 12 exonic exonic exonic EPB41L4B EPB41L4B ENSG00000095203 nonsynonymous SNV nonsynonymous SNV unknown EPB41L4B:NM_019114:exon1:c.G217A:p.V73M,EPB41L4B:NM_018424:exon1:c.G217A:p.V73M, EPB41L4B:uc004bdz.1:exon1:c.G217A:p.V73M,EPB41L4B:uc004bea.3:exon1:c.G217A:p.V73M, UNKNOWN Het;C>T 407;12|21 Ref Hom;C>T 532;0|20 N N - 9 112110282 112110282 A AG indel intergenic EPB41L4B Epb41l4b ENSG00000095203 erythrocyte membrane protein band 4.1 like 4B chr9:111934255-112083244 Tobacco Use Disorder GO:0010628;positive regulation of gene expression;IMP|GO:0031032;actomyosin structure organization;IDA|GO:0042060;wound healing;IDA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0051549;positive regulation of keratinocyte migration;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA|GO:0005923;bicellular tight junction;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045177;apical part of cell;IDA GO:0005200;structural constituent of cytoskeleton;TAS|GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L4B https://www.uniprot.org/uniprot/Q9H329 https://www.ncbi.nlm.nih.gov/omim/?term=610340 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L4B&submit=Quick%0D%2237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L4B rs397721371 0.138379 0 0 1 0 0 intergenic intergenic intergenic EPB41L4B(dist=27038),PTPN3(dist=27692) EPB41L4B(dist=27261),PTPN3(dist=27692) ENSG00000207329(dist=23206),ENSG00000070159(dist=27692) Na Na Na Na Na Na Het;+G 305;1|10 Ref Hom;+G 485;0|14 N N - 9 112144911 112144911 T C snp intronic PTPN3 Ptpn3 ENSG00000070159 protein tyrosine phosphatase, non-receptor type 3 chr9:112137746-112260590 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. EGFR downregulation GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPN3 https://www.uniprot.org/uniprot/P26045 https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176877 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3 rs7029709 0.883187 0 0 1 0 0 intronic intronic intronic PTPN3 PTPN3 ENSG00000070159 Na Na Na Na Na Na Het;T>C 125;2|5 Ref Hom;T>C 116;0|4 N N - 9 112151349 112151349 C T snp intronic PTPN3 Ptpn3 ENSG00000070159 protein tyrosine phosphatase, non-receptor type 3 chr9:112137746-112260590 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. EGFR downregulation GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPN3 https://www.uniprot.org/uniprot/P26045 https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176877 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3 rs1371787 0.849042 0 0 1 0 0 intronic intronic intronic PTPN3 PTPN3 ENSG00000070159 Na Na Na Na Na Na Het;C>T 109;3|4 Ref Hom;C>T 125;0|5 N N - 9 112170701 112170701 T TAAAC indel intronic PTPN3 Ptpn3 ENSG00000070159 protein tyrosine phosphatase, non-receptor type 3 chr9:112137746-112260590 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. EGFR downregulation GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPN3 https://www.uniprot.org/uniprot/P26045 https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176877 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3 rs35463120 0.868211 0 0.8237 1 0 0 intronic intronic intronic PTPN3 PTPN3 ENSG00000070159 Na Na Na Na Na Na Het;+AAAC 482;13|14 Het;+AAAC 920;14|24 Hom;+AAAC 2012;0|48 N N - 9 112172477 112172477 T G snp intronic PTPN3 Ptpn3 ENSG00000070159 protein tyrosine phosphatase, non-receptor type 3 chr9:112137746-112260590 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. EGFR downregulation GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPN3 https://www.uniprot.org/uniprot/P26045 https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176877 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3 rs2275699 0 0.8618 0.8512 1 0 0 intronic intronic intronic PTPN3 PTPN3 ENSG00000070159 Na Na Na Na Na Na Het;T>G 1050;43|41 Het;T>G 863;27|29 Hom;T>G 2005;0|66 N N - 9 112182649 112182649 T C snp intronic PTPN3 Ptpn3 ENSG00000070159 protein tyrosine phosphatase, non-receptor type 3 chr9:112137746-112260590 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Chronic renal failure|Kidney Failure, Chronic; Cleft Lip|Cleft Palate|Tooth Abnormalities; Albumins; Echocardiography; Neuroblastoma Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. EGFR downregulation GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;TAS|GO:0045930;negative regulation of mitotic cell cycle;IDA|GO:0051045;negative regulation of membrane protein ectodomain proteolysis;IMP|GO:0097421;liver regeneration;IEA|GO:0098902;regulation of membrane depolarization during action potential;IDA|GO:2000649;regulation of sodium ion transmembrane transporter activity;IDA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017080;sodium channel regulator activity;IDA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPN3 https://www.uniprot.org/uniprot/P26045 https://hpo.jax.org/app/browse/search?q=PTPN3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176877 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN3&submit=Quick%0D%1344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN3 rs4077728 0.191094 0 0 1 0 0 intronic intronic intronic PTPN3 PTPN3 ENSG00000070159 Na Na Na Na Na Na Het;T>C 147;2|5 Ref Hom;T>C 343;0|11 N N - 9 113261483 113261483 C T snp nonsynonymous SNV G1519A V507I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SVEP1 Svep1 ENSG00000165124 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 chr9:113127531-113342160 Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Tobacco Use Disorder Homozygous inactivation of this gene results in complete preweaning lethality, edema, abnormal skin coloration, thick epidermis, acanthosis, tail/limb abnormalities, and defects in lymphatic vascular development and valve formation. GO:0007155;cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0003682;chromatin binding;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SVEP1 https://www.ncbi.nlm.nih.gov/omim/?term=611691 http://www.informatics.jax.org/searchtool/Search.do?query=SVEP1&submit=Quick%0D%11473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVEP1 rs872665 0.267572 0.2728 0.2535 0.54 7 13 exonic exonic exonic SVEP1 SVEP1 ENSG00000165124 nonsynonymous SNV nonsynonymous SNV unknown SVEP1:NM_153366:exon7:c.G1519A:p.V507I, SVEP1:uc010mtz.3:exon7:c.G1519A:p.V507I,SVEP1:uc010mua.1:exon7:c.G1519A:p.V507I,SVEP1:uc004beu.2:exon7:c.G1519A:p.V507I, UNKNOWN Het;C>T 1525;82|72 Het;C>T 1580;90|77 Hom;C>T 4879;0|187 N N - 9 113261645 113261645 T C snp intronic SVEP1 Svep1 ENSG00000165124 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 chr9:113127531-113342160 Congenital Megacolon|Hirschsprung Disease|Urea Cycle Disorders, Inborn; Tobacco Use Disorder Homozygous inactivation of this gene results in complete preweaning lethality, edema, abnormal skin coloration, thick epidermis, acanthosis, tail/limb abnormalities, and defects in lymphatic vascular development and valve formation. GO:0007155;cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0003682;chromatin binding;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SVEP1 https://www.ncbi.nlm.nih.gov/omim/?term=611691 http://www.informatics.jax.org/searchtool/Search.do?query=SVEP1&submit=Quick%0D%11473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVEP1 rs872666 0.470447 0 0 1 0 0 intronic intronic intronic SVEP1 SVEP1 ENSG00000165124 Na Na Na Na Na Na Het;T>C 276;7|9 Het;T>C 195;6|7 Hom;T>C 365;0|11 N N - 9 113670793 113670793 C T snp intronic LPAR1 Lpar1 ENSG00000198121 lysophosphatidic acid receptor 1 chr9:113635543-113800981 The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008] Waist Circumference; Type 2 Diabetes| edema | rosiglitazone; null; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Coronary Artery Disease; Respiratory Function Tests; Pancreatic Neoplasms; Osteoarthritis, Knee; Alkaline Phosphatase Nullizygous mutations cause partial peri- and postnatal lethality, growth defects, craniofacial anomalies, and wide set eyes. Additional phenotypes include altered brain 5-HT and amino acids, reduced prepulse inhibition, impaired suckling, and increased apoptosis in sciatic nerve Schwann cells. Lysosphingolipid and LPA receptors GO:0000187;activation of MAPK activity;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;ISS|GO:0007202;activation of phospholipase C activity;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;ISS|GO:0010942;positive regulation of cell death;IEA|GO:0010977;negative regulation of neuron projection development;ISS|GO:0014003;oligodendrocyte development;IEA|GO:0021549;cerebellum development;IEA|GO:0021554;optic nerve development;IEA|GO:0022008;neurogenesis;IEA|GO:0022038;corpus callosum development;IEA|GO:0030818;negative regulation of cAMP biosynthetic process;IEA|GO:0032060;bleb assembly;IEA|GO:0035025;positive regulation of Rho protein signal transduction;ISS|GO:0042552;myelination;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IMP|GO:0051496;positive regulation of stress fiber assembly;ISS|GO:0060326;cell chemotaxis;IMP|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0071453;cellular response to oxygen levels;IEA|GO:0071673;positive regulation of smooth muscle cell chemotaxis;IEA|GO:1904566;cellular response to 1-oleoyl-sn-glycerol 3-phosphate;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA GO:0001965;G-protein alpha-subunit binding;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA|GO:0030165;PDZ domain binding;IEA|GO:0035727;lysophosphatidic acid binding;IDA|GO:0070915;lysophosphatidic acid receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LPAR1 https://www.ncbi.nlm.nih.gov/omim/?term=602282 http://www.informatics.jax.org/searchtool/Search.do?query=LPAR1&submit=Quick%0D%16821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPAR1 rs6477794 0.459465 0 0 1 0 0 intronic intronic intronic LPAR1 LPAR1 ENSG00000198121 Na Na Na Na Na Na Het;C>T 770;20|35 Ref Hom;C>T 935;2|38 N N - 9 113934572 113934572 A G snp ncRNA_intronic AL162414.1 rs10980812 0.586661 0 0 1 0 0 intergenic intergenic ncRNA_intronic LPAR1(dist=134207),MIR7702(dist=98864) LPAR1(dist=133046),OR2K2(dist=155191) ENSG00000227531 Na Na Na Na Na Na Het;A>G 66;5|4 Het;A>G 249;6|12 Hom;A>G 438;0|14 N N - 9 114134198 114134198 C A snp intronic KIAA0368 AI314180 ENSG00000136813 KIAA0368 chr9:114122972-114247025 Tobacco Use Disorder; Neuropsychological Tests; Cholesterol GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368 https://www.uniprot.org/uniprot/Q5VYK3 https://www.ncbi.nlm.nih.gov/omim/?term=616694 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368 rs10980884 0.17472 0 0 1 0 0 intronic intronic intronic KIAA0368 KIAA0368 ENSG00000136813 Na Na Na Na Na Na Het;C>A 169;6|6 Het;C>A 106;1|5 Hom;C>A 187;0|7 N N - 9 114136169 114136169 A G snp intronic KIAA0368 AI314180 ENSG00000136813 KIAA0368 chr9:114122972-114247025 Tobacco Use Disorder; Neuropsychological Tests; Cholesterol GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368 https://www.uniprot.org/uniprot/Q5VYK3 https://www.ncbi.nlm.nih.gov/omim/?term=616694 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368 rs7029123 0.183107 0 0 1 0 0 intronic intronic intronic KIAA0368 KIAA0368 ENSG00000136813 Na Na Na Na Na Na Het;A>G 160;3|6 Het;A>G 84;4|5 Hom;A>G 337;0|13 N N - 9 114146686 114146686 C T snp intronic KIAA0368 AI314180 ENSG00000136813 KIAA0368 chr9:114122972-114247025 Tobacco Use Disorder; Neuropsychological Tests; Cholesterol GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368 https://www.uniprot.org/uniprot/Q5VYK3 https://www.ncbi.nlm.nih.gov/omim/?term=616694 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368 rs12350482 0.182109 0 0 1 0 0 intronic intronic intronic KIAA0368 KIAA0368 ENSG00000136813 Na Na Na Na Na Na Het;C>T 105;6|5 Het;C>T 77;6|5 Hom;C>T 260;0|10 N N - 9 114155899 114155899 G A snp intronic KIAA0368 AI314180 ENSG00000136813 KIAA0368 chr9:114122972-114247025 Tobacco Use Disorder; Neuropsychological Tests; Cholesterol GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368 https://www.uniprot.org/uniprot/Q5VYK3 https://www.ncbi.nlm.nih.gov/omim/?term=616694 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368 rs2598360 0.181709 0.3212 0 1 0 0 intronic intronic intronic KIAA0368 KIAA0368 ENSG00000136813 Na Na Na Na Na Na Het;G>A 273;7|13 Het;G>A 180;5|10 Hom;G>A 555;0|22 N N - 9 114174148 114174148 C T snp intronic KIAA0368 AI314180 ENSG00000136813 KIAA0368 chr9:114122972-114247025 Tobacco Use Disorder; Neuropsychological Tests; Cholesterol GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368 https://www.uniprot.org/uniprot/Q5VYK3 https://www.ncbi.nlm.nih.gov/omim/?term=616694 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368 rs2151179 0.460064 0 0 1 0 0 intronic intronic intronic KIAA0368 KIAA0368 ENSG00000136813 Na Na Na Na Na Na Het;C>T 149;3|5 Ref Hom;C>T 128;0|4 N N - 9 114174415 114174415 T C snp nonsynonymous SNV A2627G N876S polar,hydrophilic,neutral polar,hydrophilic,neutral KIAA0368 AI314180 ENSG00000136813 KIAA0368 chr9:114122972-114247025 Tobacco Use Disorder; Neuropsychological Tests; Cholesterol GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0043248;proteasome assembly;IEA GO:0000502;proteasome complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;IDA|GO:0030139;endocytic vesicle;IDA|GO:0031410;cytoplasmic vesicle;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IEA http://www.genecards.org/index.php?path=/Search/keyword/KIAA0368 https://www.uniprot.org/uniprot/Q5VYK3 https://www.ncbi.nlm.nih.gov/omim/?term=616694 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0368&submit=Quick%0D%7404ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0368 rs2418163 0.40635 0.4557 0.4615 0.23 3 13 exonic exonic exonic KIAA0368 KIAA0368 ENSG00000136813 nonsynonymous SNV nonsynonymous SNV unknown KIAA0368:NM_001080398:exon22:c.A2627G:p.N876S, KIAA0368:uc004bfe.1:exon22:c.A2627G:p.N876S, UNKNOWN Het;T>C 838;51|38 Het;T>C 1720;66|74 Hom;T>C 3138;1|116 N N - 9 116122672 116122672 C T snp intronic BSPRY Bspry ENSG00000119411 B-box and SPRY domain containing chr9:116111821-116133513 Erythrocyte Count; Chromosome Breakage|Cleft Lip|Cleft Palate|Translocation, Genetic GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031252;cell leading edge;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BSPRY https://www.uniprot.org/uniprot/Q5W0U4 http://www.informatics.jax.org/searchtool/Search.do?query=BSPRY&submit=Quick%0D%5060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSPRY rs3763667 0.174121 0 0 1 0 0 intronic intronic intronic BSPRY BSPRY ENSG00000119411 Na Na Na Na Na Na Het;C>T 486;9|15 Ref Hom;C>T 294;0|8 N N - 9 116122954 116122954 A G snp synonymous SNV A468G K156K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) BSPRY Bspry ENSG00000119411 B-box and SPRY domain containing chr9:116111821-116133513 Erythrocyte Count; Chromosome Breakage|Cleft Lip|Cleft Palate|Translocation, Genetic GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031252;cell leading edge;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BSPRY https://www.uniprot.org/uniprot/Q5W0U4 http://www.informatics.jax.org/searchtool/Search.do?query=BSPRY&submit=Quick%0D%5060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSPRY rs752757 0.364417 0.2949 0.3017 1 0 0 exonic exonic exonic BSPRY BSPRY ENSG00000119411 synonymous SNV synonymous SNV unknown BSPRY:NM_017688:exon3:c.A468G:p.K156K, BSPRY:uc010muw.3:exon3:c.A468G:p.K156K,BSPRY:uc004bhg.4:exon3:c.A468G:p.K156K, UNKNOWN Het;A>G 2127;108|93 Ref Hom;A>G 5234;0|185 N N - 9 116131771 116131771 A G snp intronic BSPRY Bspry ENSG00000119411 B-box and SPRY domain containing chr9:116111821-116133513 Erythrocyte Count; Chromosome Breakage|Cleft Lip|Cleft Palate|Translocation, Genetic GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031252;cell leading edge;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BSPRY https://www.uniprot.org/uniprot/Q5W0U4 http://www.informatics.jax.org/searchtool/Search.do?query=BSPRY&submit=Quick%0D%5060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSPRY rs3789256 0.240016 0 0 1 0 0 intronic intronic intronic BSPRY BSPRY ENSG00000119411 Na Na Na Na Na Na Het;A>G 145;7|6 Ref Hom;A>G 270;0|9 N N - 9 116131873 116131873 A C snp intronic BSPRY Bspry ENSG00000119411 B-box and SPRY domain containing chr9:116111821-116133513 Erythrocyte Count; Chromosome Breakage|Cleft Lip|Cleft Palate|Translocation, Genetic GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031252;cell leading edge;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BSPRY https://www.uniprot.org/uniprot/Q5W0U4 http://www.informatics.jax.org/searchtool/Search.do?query=BSPRY&submit=Quick%0D%5060ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BSPRY rs3827661 0.152756 0.1108 0.1522 1 0 0 intronic intronic intronic BSPRY BSPRY ENSG00000119411 Na Na Na Na Na Na Het;A>C 1053;45|40 Ref Hom;A>C 2848;0|94 N N - 9 116222526 116222526 C T snp UTR5 -11C>T RGS3 Rgs3 ENSG00000138835 regulator of G protein signaling 3 chr9:116207011-116360018 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013] Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. G alpha (q) signalling events GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS3 https://www.uniprot.org/uniprot/P49796 https://www.ncbi.nlm.nih.gov/omim/?term=602189 http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3 rs10981790 0.178115 0 0.1595 1 0 0 UTR5 UTR5 UTR5 RGS3(NM_144488:c.-11C>T) RGS3(uc004bhq.4:c.-11C>T) ENSG00000138835(ENST00000374140:c.-11C>T,ENST00000350696:c.-11C>T) Na Na Na Na Na Na Het;C>T 78;2|4 Ref Hom;C>T 246;0|10 N N - 9 116346287 116346287 C T snp synonymous SNV C1752T Y584Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic RGS3 Rgs3 ENSG00000138835 regulator of G protein signaling 3 chr9:116207011-116360018 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013] Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. G alpha (q) signalling events GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS3 https://www.uniprot.org/uniprot/P49796 https://www.ncbi.nlm.nih.gov/omim/?term=602189 http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3 rs3810927 0.169728 0.1667 0.1710 1 0 0 exonic exonic exonic RGS3 RGS3 ENSG00000138835 synonymous SNV synonymous SNV unknown RGS3:NM_130795:exon11:c.C1752T:p.Y584Y,RGS3:NM_001282923:exon18:c.C2265T:p.Y755Y,RGS3:NM_001282922:exon3:c.C558T:p.Y186Y,RGS3:NM_001276260:exon2:c.C558T:p.Y186Y,RGS3:NM_144488:exon21:c.C2595T:p.Y865Y, RGS3:uc031teu.1:exon3:c.C525T:p.Y175Y,RGS3:uc004bhq.4:exon21:c.C2595T:p.Y865Y,RGS3:uc004bhs.4:exon18:c.C2217T:p.Y739Y,RGS3:uc011lxh.3:exon2:c.C558T:p.Y186Y,RGS3:uc010muz.2:exon2:c.C612T:p.Y204Y,RGS3:uc004bht.4:exon11:c.C1752T:p.Y584Y,RGS3:uc004bhz.4:exon1:c.C621T:p.Y207Y,RGS3:uc004bhy.1:exon2:c.C525T:p.Y175Y,RGS3:uc004bhv.4:exon2:c.C558T:p.Y186Y, UNKNOWN Het;C>T 2231;56|85 Ref Hom;C>T 3105;0|113 N N - 9 116356373 116356373 G C snp synonymous SNV G174C L58L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RGS3 Rgs3 ENSG00000138835 regulator of G protein signaling 3 chr9:116207011-116360018 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013] Breath Tests; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary|Squamous cell carcinoma; Lipoproteins, VLDL; Heart Failure Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. G alpha (q) signalling events GO:0000188;inactivation of MAPK activity;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;TAS|GO:0009968;negative regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RGS3 https://www.uniprot.org/uniprot/P49796 https://www.ncbi.nlm.nih.gov/omim/?term=602189 http://www.informatics.jax.org/searchtool/Search.do?query=RGS3&submit=Quick%0D%7817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGS3 rs12350531 0.742212 0.6833 0.7242 1 0 0 exonic exonic exonic RGS3 RGS3 ENSG00000138835 synonymous SNV synonymous SNV unknown RGS3:NM_144489:exon1:c.G174C:p.L58L, RGS3:uc004bia.4:exon1:c.G174C:p.L58L, UNKNOWN Het;G>C 1736;83|76 Het;G>C 1671;74|69 Hom;G>C 2927;2|104 N N - 9 116764283 116764283 C T snp synonymous SNV C345T Y115Y aromatic,polar,hydrophobic aromatic,polar,hydrophobic ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs4978561 0.330272 0.2746 0.3641 1 0 0 exonic exonic exonic ZNF618 ZNF618 ENSG00000157657 synonymous SNV synonymous SNV unknown ZNF618:NM_133374:exon4:c.C345T:p.Y115Y, ZNF618:uc004bid.3:exon5:c.C441T:p.Y147Y,ZNF618:uc011lxi.2:exon4:c.C345T:p.Y115Y,ZNF618:uc004bib.1:exon4:c.C345T:p.Y115Y,ZNF618:uc004bic.3:exon4:c.C345T:p.Y115Y,ZNF618:uc011lxj.2:exon4:c.C345T:p.Y115Y, UNKNOWN Het;C>T 709;44|37 Ref Hom;C>T 1707;0|61 N N - 9 116769515 116769515 C T snp intronic ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs4979321 0.507788 0 0 1 0 0 intronic intronic intronic ZNF618 ZNF618 ENSG00000157657 Na Na Na Na Na Na Het;C>T 312;11|10 Ref Hom;C>T 263;0|7 N N - 9 116770776 116770776 C T snp synonymous SNV C600T V200V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs3748183 0.303315 0.2569 0.3498 1 0 0 exonic exonic exonic ZNF618 ZNF618 ENSG00000157657 synonymous SNV synonymous SNV unknown ZNF618:NM_133374:exon8:c.C600T:p.V200V, ZNF618:uc004bid.3:exon9:c.C696T:p.V232V,ZNF618:uc011lxi.2:exon8:c.C600T:p.V200V,ZNF618:uc004bib.1:exon8:c.C600T:p.V200V,ZNF618:uc004bic.3:exon8:c.C600T:p.V200V,ZNF618:uc011lxj.2:exon8:c.C600T:p.V200V, UNKNOWN Het;C>T 4389;117|116 Ref Hom;C>T 8939;0|201 N N - 9 116770785 116770785 G A snp synonymous SNV G609A T203T polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs3748182 0.303914 0.2567 0.3503 1 0 0 exonic exonic exonic ZNF618 ZNF618 ENSG00000157657 synonymous SNV synonymous SNV unknown ZNF618:NM_133374:exon8:c.G609A:p.T203T, ZNF618:uc004bid.3:exon9:c.G705A:p.T235T,ZNF618:uc011lxi.2:exon8:c.G609A:p.T203T,ZNF618:uc004bib.1:exon8:c.G609A:p.T203T,ZNF618:uc004bic.3:exon8:c.G609A:p.T203T,ZNF618:uc011lxj.2:exon8:c.G609A:p.T203T, UNKNOWN Het;G>A 4302;119|115 Ref Hom;G>A 8785;1|200 N N - 9 116770918 116770918 G A snp intronic ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs10817552 0.305711 0 0 1 0 0 intronic intronic intronic ZNF618 ZNF618 ENSG00000157657 Na Na Na Na Na Na Het;G>A 381;29|17 Ref Hom;G>A 1436;2|48 N N - 9 116778269 116778269 A G snp intronic ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs4979324 0.545927 0 0 1 0 0 intronic intronic intronic ZNF618 ZNF618 ENSG00000157657 Na Na Na Na Na Na Het;A>G 92;11|4 Ref Hom;A>G 261;0|7 N N - 9 116778644 116778644 T G snp intronic ZNF618 Zfp618 ENSG00000157657 zinc finger protein 618 chr9:116638562-116818871 hypertension; Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Cleft Lip|Cleft Palate; Kidney Diseases GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF618 https://www.ncbi.nlm.nih.gov/omim/?term=617077 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF618&submit=Quick%0D%10120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF618 rs1853546 0.595447 0 0 1 0 0 intronic intronic intronic ZNF618 ZNF618 ENSG00000157657 Na Na Na Na Na Na Het;T>G 61;6|3 Ref Hom;T>G 150;0|5 N N - 9 117050998 117050998 G A snp nonsynonymous SNV G4061A R1354Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs10982134 0.423722 0.3005 0.3927 0.25 3 12 exonic exonic exonic COL27A1 COL27A1 ENSG00000196739 nonsynonymous SNV nonsynonymous SNV unknown COL27A1:NM_032888:exon43:c.G4061A:p.R1354Q, COL27A1:uc011lxl.2:exon43:c.G4061A:p.R1354Q, UNKNOWN Het;G>A 966;55|43 Ref Hom;G>A 2806;0|101 N N - 9 117051586 117051586 C G snp intronic COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs72762675 0.466054 0.3068 0.4611 1 0 0 intronic intronic intronic COL27A1 COL27A1 ENSG00000196739 Na Na Na Na Na Na Het;C>G 516;67|32 Ref Hom;C>G 2010;0|79 N N - 9 117052738 117052738 G GT indel intronic COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs11386651 0.738818 0 0 1 0 0 intronic intronic intronic COL27A1 COL27A1 ENSG00000196739 Na Na Na Na Na Na Het;+T 385;15|15 Het;+T 454;14|17 Hom;+T 1055;0|32 N N - 9 117052772 117052772 C A snp intronic COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs7018988 0.445088 0 0 1 0 0 intronic intronic intronic COL27A1 COL27A1 ENSG00000196739 Na Na Na Na Na Na Het;C>A 295;5|9 Ref Hom;C>A 477;0|13 N N - 9 117053215 117053215 A G snp intronic COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs1249738 0.528355 0.3718 0.4652 1 0 0 intronic intronic intronic COL27A1 COL27A1 ENSG00000196739 Na Na Na Na Na Na Het;A>G 1029;61|40 Ref Hom;A>G 2013;0|72 N N - 9 117053273 117053273 T G snp intronic COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs1249737 0.52516 0 0 1 0 0 intronic intronic intronic COL27A1 COL27A1 ENSG00000196739 Na Na Na Na Na Na Het;T>G 335;25|16 Ref Hom;T>G 832;0|29 N N - 9 117085526 117085526 G A snp nonsynonymous SNV G113A R38Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral ORM1 ENSG00000229314 orosomucoid 1 chr9:117085336-117088755 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] Thrombosis; major depressive disorder; Body Weight|Gastrointestinal Stromal Tumors; warfarin sensitivity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; warfarin response Neutrophil degranulation GO:0002576;platelet degranulation;TAS|GO:0002682;regulation of immune system process;IEA|GO:0006810;transport;IEA|GO:0006953;acute-phase response;TAS|GO:0006954;inflammatory response;TAS|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904724;tertiary granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ORM1 https://www.ncbi.nlm.nih.gov/omim/?term=138600 http://www.informatics.jax.org/searchtool/Search.do?query=ORM1&submit=Quick%0D%18901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORM1 rs17650 0 0 0.6486 0.10 1 10 exonic exonic exonic ORM1 ORM1 ENSG00000229314 nonsynonymous SNV nonsynonymous SNV unknown ORM1:NM_000607:exon1:c.G113A:p.R38Q, ORM1:uc011lxo.2:exon1:c.G113A:p.R38Q,ORM1:uc004bik.4:exon1:c.G113A:p.R38Q, UNKNOWN Het;G>A 1586;73|78 Ref Hom;G>A 3212;0|120 N N - 9 117085635 117085635 T C snp unknown ORM1 ENSG00000229314 orosomucoid 1 chr9:117085336-117088755 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] Thrombosis; major depressive disorder; Body Weight|Gastrointestinal Stromal Tumors; warfarin sensitivity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; warfarin response Neutrophil degranulation GO:0002576;platelet degranulation;TAS|GO:0002682;regulation of immune system process;IEA|GO:0006810;transport;IEA|GO:0006953;acute-phase response;TAS|GO:0006954;inflammatory response;TAS|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904724;tertiary granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ORM1 https://www.ncbi.nlm.nih.gov/omim/?term=138600 http://www.informatics.jax.org/searchtool/Search.do?query=ORM1&submit=Quick%0D%18901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORM1 rs1687381 0.737021 0 0.6942 1 0 0 intronic intronic exonic ORM1 ORM1 ENSG00000229314 Na Na unknown Na Na UNKNOWN Het;T>C 1036;53|37 Ref Hom;T>C 1869;0|59 N N - 9 117086226 117086226 A G snp intronic ORM1 ENSG00000229314 orosomucoid 1 chr9:117085336-117088755 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] Thrombosis; major depressive disorder; Body Weight|Gastrointestinal Stromal Tumors; warfarin sensitivity; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; warfarin response Neutrophil degranulation GO:0002576;platelet degranulation;TAS|GO:0002682;regulation of immune system process;IEA|GO:0006810;transport;IEA|GO:0006953;acute-phase response;TAS|GO:0006954;inflammatory response;TAS|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA|GO:1904724;tertiary granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ORM1 https://www.ncbi.nlm.nih.gov/omim/?term=138600 http://www.informatics.jax.org/searchtool/Search.do?query=ORM1&submit=Quick%0D%18901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORM1 rs1111796 0.73143 0 0 1 0 0 intronic intronic intronic ORM1 ORM1 ENSG00000229314 Na Na Na Na Na Na Het;A>G 1382;64|52 Ref Hom;A>G 2215;0|71 N N - 9 117093029 117093029 C T snp intronic ORM2 ENSG00000228278 orosomucoid 2 chr9:117092149-117095532 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] Leukemia, Myelogenous, Chronic, BCR-ABL Positive; warfarin response; warfarin sensitivity Neutrophil degranulation GO:0002576;platelet degranulation;TAS|GO:0002682;regulation of immune system process;IEA|GO:0006810;transport;IEA|GO:0006953;acute-phase response;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0031093;platelet alpha granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA http://www.genecards.org/index.php?path=/Search/keyword/ORM2 https://www.ncbi.nlm.nih.gov/omim/?term=138610 http://www.informatics.jax.org/searchtool/Search.do?query=ORM2&submit=Quick%0D%18821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORM2 rs17230081 0.175519 0.1650 0.1882 1 0 0 intronic intronic intronic ORM2 ORM1,ORM2 ENSG00000228278 Na Na Na Na Na Na Het;C>T 1075;28|40 Ref Hom;C>T 2221;0|68 N N - 9 117108122 117108122 C T snp intronic AKNA Akna ENSG00000106948 AT-hook transcription factor chr9:117096436-117156685 Type 2 Diabetes| edema | rosiglitazone; Cervical Neoplasm|Uterine Cervical Neoplasms Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AKNA https://www.uniprot.org/uniprot/Q7Z591 https://www.ncbi.nlm.nih.gov/omim/?term=605729 http://www.informatics.jax.org/searchtool/Search.do?query=AKNA&submit=Quick%0D%3563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNA rs3762054 0.184704 0.1837 0.2134 1 0 0 intronic intronic intronic AKNA AKNA ENSG00000106948 Na Na Na Na Na Na Het;C>T 1982;87|89 Ref Hom;C>T 3014;8|120 N N - 9 117166206 117166206 G T snp nonsynonymous SNV C1335A N445K polar,hydrophilic,neutral polar,hydrophilic,charged(+) DFNB31 Whrn rs2274158 0.222444 0.1799 0.2476 0.08 1 13 exonic exonic exonic DFNB31 DFNB31 ENSG00000095397 nonsynonymous SNV nonsynonymous SNV unknown DFNB31:NM_015404:exon10:c.C2388A:p.N796K,DFNB31:NM_001083885:exon10:c.C1239A:p.N413K,DFNB31:NM_001173425:exon10:c.C2385A:p.N795K, DFNB31:uc004bix.3:exon6:c.C1335A:p.N445K,DFNB31:uc004bja.4:exon10:c.C2385A:p.N795K,DFNB31:uc004biz.4:exon10:c.C2388A:p.N796K,DFNB31:uc004biy.4:exon10:c.C1239A:p.N413K, UNKNOWN Het;G>T 1433;80|63 Ref Hom;G>T 3142;2|115 N N - 9 117186463 117186463 T C snp intronic DFNB31 Whrn rs4979385 0.460264 0 0 1 0 0 intronic intronic intronic DFNB31 DFNB31 ENSG00000095397 Na Na Na Na Na Na Het;T>C 76;5|4 Ref Hom;T>C 102;0|4 N N - 9 117186592 117186592 T A snp intronic DFNB31 Whrn rs4979386 0.228435 0.1792 0.2543 1 0 0 intronic intronic intronic DFNB31 DFNB31 ENSG00000095397 Na Na Na Na Na Na Het;T>A 427;32|22 Ref Hom;T>A 1661;0|63 N N - 9 117186712 117186712 C T snp nonsynonymous SNV G265A A89T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral DFNB31 Whrn rs4978584 0.228235 0.1800 0.2530 0.23 3 13 exonic exonic exonic DFNB31 DFNB31 ENSG00000095397 nonsynonymous SNV nonsynonymous SNV unknown DFNB31:NM_015404:exon6:c.G1318A:p.A440T,DFNB31:NM_001083885:exon6:c.G169A:p.A57T,DFNB31:NM_001173425:exon6:c.G1318A:p.A440T, DFNB31:uc004bix.3:exon2:c.G265A:p.A89T,DFNB31:uc004bja.4:exon6:c.G1318A:p.A440T,DFNB31:uc004biz.4:exon6:c.G1318A:p.A440T,DFNB31:uc004biy.4:exon6:c.G169A:p.A57T, UNKNOWN Het;C>T 997;48|46 Ref Hom;C>T 2286;0|86 N N - 9 117187569 117187569 G T snp UTR5 -152C>A WHRN rs2274162 0.23143 0 0 1 0 0 intronic UTR5 UTR5 DFNB31 DFNB31(uc004bix.3:c.-152C>A) ENSG00000095397(ENST00000374059:c.-152C>A) Na Na Na Na Na Na Het;G>T 70;4|3 Ref Hom;G>T 203;0|6 N N - 9 117188714 117188714 T C snp intronic DFNB31 Whrn rs2274163 0.348243 0.3029 0.3253 1 0 0 intronic intronic intronic DFNB31 DFNB31 ENSG00000095397 Na Na Na Na Na Na Het;T>C 943;40|41 Ref Hom;T>C 1803;0|62 N N - 9 117390300 117390300 C A snp intronic C9orf91 6330416G13Rik rs7031094 0.614018 0 0 1 0 0 intronic intronic intronic C9orf91 C9orf91 ENSG00000157693 Na Na Na Na Na Na Het;C>A 521;22|22 Het;C>A 578;24|24 Hom;C>A 1210;0|43 N N - 9 11767452 11767452 G T snp intergenic PTPRD-AS2 rs12235304 0.601837 0 0 1 0 0 intergenic intergenic intergenic PTPRD-AS2(dist=1147032),TYRP1(dist=925934) JB175300(dist=13399),TYRP1(dist=925934) ENSG00000230365(dist=491138),ENSG00000224935(dist=331208) Na Na Na Na Na Na Het;G>T 164;6|5 Ref Hom;G>T 132;0|3 N N - 9 11767473 11767473 G A snp intergenic PTPRD-AS2 rs12235306 0.602037 0 0 1 0 0 intergenic intergenic intergenic PTPRD-AS2(dist=1147053),TYRP1(dist=925913) JB175300(dist=13420),TYRP1(dist=925913) ENSG00000230365(dist=491159),ENSG00000224935(dist=331187) Na Na Na Na Na Na Het;G>A 155;9|5 Het;G>A 126;12|8 Hom;G>A 281;0|9 N N - 9 11767579 11767579 C T snp intergenic PTPRD-AS2 rs34776019 0.350439 0 0 1 0 0 intergenic intergenic intergenic PTPRD-AS2(dist=1147159),TYRP1(dist=925807) JB175300(dist=13526),TYRP1(dist=925807) ENSG00000230365(dist=491265),ENSG00000224935(dist=331081) Na Na Na Na Na Na Het;C>T 284;18|15 Het;C>T 135;15|9 Hom;C>T 784;0|32 N N - 9 119158814 119158814 T C snp synonymous SNV T4803C D1601D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PAPPA Pappa ENSG00000182752 pappalysin 1 chr9:118916083-119164601 This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008] Echocardiography; Body Height; Cleft Lip|Cleft Palate; height; Abortion, Habitual|Infertility, Female; Tobacco Use Disorder; Heart Failure Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) GO:0006508;proteolysis;IEA|GO:0007565;female pregnancy;TAS|GO:0032354;response to follicle-stimulating hormone;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0004175;endopeptidase activity;IEA|GO:0004222;metalloendopeptidase activity;EXP|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PAPPA https://www.ncbi.nlm.nih.gov/omim/?term=176385 http://www.informatics.jax.org/searchtool/Search.do?query=PAPPA&submit=Quick%0D%14849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPPA rs8456 0.672324 0.6662 0.6967 1 0 0 exonic exonic exonic PAPPA PAPPA ENSG00000182752 synonymous SNV synonymous SNV unknown PAPPA:NM_002581:exon22:c.T4803C:p.D1601D, PAPPA:uc011lxq.2:exon16:c.T2928C:p.D976D,PAPPA:uc004bjn.3:exon22:c.T4803C:p.D1601D, UNKNOWN Het;T>C 1154;67|50 Het;T>C 901;70|47 Hom;T>C 2750;0|99 N N - 9 119162545 119162545 C A snp ncRNA_exonic PAPPA-AS1 rs3194846 0.860024 0 0 1 0 0 ncRNA_exonic UTR3 UTR5;UTR3 PAPPA-AS1 PAPPA(uc004bjn.3:c.*3650C>A,uc011lxq.2:c.*3650C>A) ENSG00000256040(ENST00000445861:c.-1480G>T);ENSG00000182752(ENST00000328252:c.*3650C>A) Na Na Na Na Na Na Het;C>A 928;41|41 Het;C>A 857;67|43 Hom;C>A 3534;0|130 N N - 9 119256146 119256146 C A snp intronic ASTN2 Astn2 ENSG00000148219 astrotactin 2 chr9:119187504-120177348 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASTN2 https://www.uniprot.org/uniprot/O75129 https://www.ncbi.nlm.nih.gov/omim/?term=612856 http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2 rs1861882 0.39377 0 0 1 0 0 intronic intronic intronic ASTN2 ASTN2 ENSG00000148219 Na Na Na Na Na Na Het;C>A 53;2|4 Het;C>A 49;1|3 Hom;C>A 160;0|7 N N - 9 119266695 119266695 C T snp ncRNA_intronic LOC100128505 rs4836732 0.508586 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic ASTN2-AS1 LOC100128505 ENSG00000229105 Na Na Na Na Na Na Het;C>T 416;13|17 Het;C>T 148;19|9 Hom;C>T 689;0|25 N N - 9 119462112 119462112 C T snp UTR3 *129C>T TRIM32 Trim32 ENSG00000119401 tripartite motif containing 32 chr9:119449581-119463579 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008] Retinal Diseases; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. Mice homozygous for a knock-out allele exhibit impaired adult muscle regeneration and myopathy. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0001894;tissue homeostasis;IEA|GO:0007014;actin ubiquitination;IEA|GO:0009411;response to UV;ISS|GO:0016567;protein ubiquitination;IDA|GO:0030307;positive regulation of cell growth;IDA|GO:0030335;positive regulation of cell migration;IDA|GO:0032479;regulation of type I interferon production;TAS|GO:0032897;negative regulation of viral transcription;IDA|GO:0034612;response to tumor necrosis factor;ISS|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045087;innate immune response;IDA|GO:0045444;fat cell differentiation;ISS|GO:0045666;positive regulation of neuron differentiation;ISS|GO:0045732;positive regulation of protein catabolic process;ISS|GO:0045787;positive regulation of cell cycle;IDA|GO:0045862;positive regulation of proteolysis;IDA|GO:0046716;muscle cell cellular homeostasis;IEA|GO:0048147;negative regulation of fibroblast proliferation;ISS|GO:0050769;positive regulation of neurogenesis;ISS|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:0061564;axon development;IEA|GO:1902187;negative regulation of viral release from host cell;IDA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IDA|GO:1903265;positive regulation of tumor necrosis factor-mediated signaling pathway;IEA|GO:1903883;positive regulation of interleukin-17-mediated signaling pathway;IEA|GO:1903886;positive regulation of chemokine (C-C motif) ligand 20 production;IEA|GO:2000147;positive regulation of cell motility;ISS GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005863;striated muscle myosin thick filament;ISS GO:0003713;transcription coactivator activity;TAS|GO:0003723;RNA binding;ISS|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0017022;myosin binding;ISS|GO:0030957;Tat protein binding;TAS|GO:0031369;translation initiation factor binding;ISS|GO:0042802;identical protein binding;IPI|GO:0043130;ubiquitin binding;IDA|GO:0043621;protein self-association;IDA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRIM32 https://www.uniprot.org/uniprot/Q13049 https://hpo.jax.org/app/browse/search?q=TRIM32&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602290 http://www.informatics.jax.org/searchtool/Search.do?query=TRIM32&submit=Quick%0D%5056ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM32 rs3019 0.949081 0 0 1 0 0 UTR3 UTR3 UTR3 TRIM32(NM_001099679:c.*129C>T,NM_012210:c.*129C>T) TRIM32(uc004bjw.2:c.*129C>T,uc004bjx.2:c.*129C>T) ENSG00000119401(ENST00000450136:c.*129C>T,ENST00000373983:c.*129C>T) Na Na Na Na Na Na Het;C>T 304;24|14 Het;C>T 297;18|14 Hom;C>T 873;0|32 N N - 9 120327414 120327414 A C snp intergenic ASTN2 Astn2 ENSG00000148219 astrotactin 2 chr9:119187504-120177348 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] Apolipoproteins C; Perphenazine; several psychiatric disorders; Adult ADHD | attention deficit hyperactivity disorder; Body Mass Index; Fibrinogen; Blood Pressure Determination; Glucose; ADHD | attention-deficit hyperactivity disorder; Stroke; Mental Competency; Hippocampus; schizophrenia; Tobacco Use Disorder; Cholesterol; response to antipsychotic treatment; Attention Deficit Disorder with Hyperactivity; Brain Ischemia|Stroke; Hypertension; Insulin; Adiponectin; Cholesterol, LDL; Coronary Artery Disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:2000009;negative regulation of protein localization to cell surface;IEA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005770;late endosome;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043204;perikaryon;IEA|GO:0060187;cell pole;IEA GO:0005509;calcium ion binding;IDA|GO:0043533;inositol 1,3,4,5 tetrakisphosphate binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASTN2 https://www.uniprot.org/uniprot/O75129 https://www.ncbi.nlm.nih.gov/omim/?term=612856 http://www.informatics.jax.org/searchtool/Search.do?query=ASTN2&submit=Quick%0D%9087ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASTN2 rs552620 0.698682 0 0 1 0 0 intergenic intergenic intergenic ASTN2(dist=150097),LOC101928797(dist=83470) ASTN2(dist=150097),TLR4(dist=139039) ENSG00000233516(dist=98876),ENSG00000233569(dist=83470) Na Na Na Na Na Na Het;A>C 34;3|2 Ref Hom;A>C 228;0|6 N N - 9 120413077 120413077 T C snp ncRNA_intronic LOC101928797 rs7020245 0.604433 0 0 1 0 0 ncRNA_intronic intergenic ncRNA_intronic LOC101928797 ASTN2(dist=235760),TLR4(dist=53376) ENSG00000233569 Na Na Na Na Na Na Het;T>C 664;16|26 Het;T>C 293;26|16 Hom;T>C 1133;0|37 N N - 9 120413242 120413242 T C snp ncRNA_exonic LOC101928797 rs6478313 0.605631 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928797 ASTN2(dist=235925),TLR4(dist=53211) ENSG00000233569 Na Na Na Na Na Na Het;T>C 1444;86|70 Het;T>C 1700;94|86 Hom;T>C 4538;0|172 N N - 9 120419262 120419262 G GA indel ncRNA_exonic LOC101928797 rs397808814 0.69349 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LOC101928797 ASTN2(dist=241945),TLR4(dist=47191) ENSG00000233569 Na Na Na Na Na Na Het;+A 1086;38|36 Het;+A 1009;36|34 Hom;+A 3141;2|88 N N - 9 120466929 120466930 CA C indel intronic TLR4 Tlr4 ENSG00000136869 toll like receptor 4 chr9:120466610-120479149 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] prostate cancer; periodontitis; atherosclerosis, coronary; hereditary hemochromatosis; Multiple Organ Failure|Sepsis|Systemic infection|Wounds and Injuries; esophageal cancer noncardia gastric carcinoma stomach cancer; Malaria, Falciparum; Hepatitis C, Chronic|Liver Cirrhosis; HELLP Syndrome|Inflammation|Pre-Eclampsia; Amyloidosis|Familial Mediterranean Fever|Tuberculosis, Pulmonary; tumor necrosis factor-alpha responses; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; Bronchiolitis Obliterans; acute coronary syndrome; Spondylitis, Ankylosing; Vaginosis, Bacterial; cerebral arteriopathy; bone density osteopenia osteoporosis; antibody formation Crohn's disease ulcerative colitis; Triglycerides; Fractures, Bone|Fractures, Closed|Humeral Fractures; respiratory syncytial virus; lupus erythematosus; rheumatoid arthritis; Heart Failure; C-reactive protein; allergic rhinitis; Mental Disorders; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; atopy; sepsis; FEV1; angina atherosclerosis, coronary; inflammatory bowel disease ; HIV-1 viral load; meningococcal disease; Chagas Cardiomyopathy|; Hepatitis C, Chronic|Liver Diseases|Liver Diseases, Alcoholic; Coronary Restenosis; Asthma|Bronchiolitis; systemic lupus erythematosus; Meningococcal Disease; filiariasis; asthma; Multiple Organ Failure|Sepsis|Wounds and Injuries; Anus Diseases|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; necrotizing enterocolitis; cytokine release mortality; Bacteremia|; Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; Meningococcal Infections; Stomach Neoplasms; longevity; Dermatitis, Atopic|Eczema allergic|Hypersensitivity, Immediate; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Bone Mineral Density; Endometrial Neoplasms; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; infertility, female; diabetes, type 1; gastric disease; Atrophy|Gastritis|Helicobacter Infections|Stomach Neoplasms; cystic fibrosis; Albuminuria|Diabetes mellitus|Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Inflammation|Premature Birth; shortened gestation; ulcerative colitis; Burns|Multiple Organ Failure|Shock; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Colitis, Ulcerative|Crohn Disease; Pre-Eclampsia; benzene haematotoxicity; Lymphadenitis|Mycobacterium Infections|Periodontitis; Crohn Disease|Crohn's disease; arthritis; Bacteremia|HIV Infections|Pneumococcal Infections; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Inflammatory Bowel Diseases; Insulin Resistance|Obesity; Hypersensitivity; Tuberculosis, Pulmonary; Septic Shock; hypercholesterolemia; atherosclerosis, generalized; Autoimmune Diseases|Pancreatitis|Recurrence; Aspergillosis|Aspergillosis, Allergic Bronchopulmonary|Lung Diseases, Fungal; graft-versus-host disease; bacterermia malaria, plasmodium falciparum pneumonia tuberculosis; Mycoses; Pulmonary Disease, Chronic Obstructive; pouchitis; Bacteremia|Gram-Negative Bacterial Infections; Duodenal Ulcer|Helicobacter Infections; Coronary Disease|Inflammation; Arthritis, Rheumatoid; aspergillosis; Burns|Sepsis|Systemic infection; multiple sclerosis; patent ductus arteriosus; asthma and atopy; duodenal ulcer gastritis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cystitis|Pyelonephritis|Urinary Tract Infections; Giant Cell Arteritis; blood pressure; Boutonneuse fever; Burns|Infection|Wounds and Injuries; Gastritis|Helicobacter Infections|Precancerous Conditions|Stomach Neoplasms; HIV Infections; Sarcoidosis; Multiple Myeloma; Cardiovascular Diseases; Bipolar Disorder; Crohn's disease; response to endotoxin; Candida albicans infection; cytomegalovirus infection, post allograft kidney transplant; bladder cancer; tuberculosis ; Brain Infarction; Endotoxemia; H. pylori infection; body mass index; bacteriuria; Hepatitis C, Chronic; brucellosis; Aspergillosis|; Epilepsy|Neurocysticercosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chlamydia; asthma; atopy; Crohn's disease ulcerative colitis; Meningococcal Infections|Pneumococcal Infections; Crohn Disease|Rectal Fistula; Neoplasm Recurrence, Local|Neoplasms, Prostatic|Prostatic Neoplasms; myocardial infarct; ankylosing spondylitis; null; Brain Ischemia|Dementia|Myocardial Infarction; Pregnancy Complications, Infectious|Vaginosis, Bacterial; cytokine synthesis; sarcoidosis; metabolic syndrome; Arthritis, Rheumatoid|Rheumatoid Arthritis; macular degeneration; rubella vaccine; cervical cancer; Schizophrenia; hematology indices; antibody response to pertussis vaccination; Lymphoma, Non-Hodgkin; Premature Birth; Eczema|Food Hypersensitivity; Hip; Periodontitis; Alzheimer's disease ; Pancreatitis; diabetes, neurological manifestations; bacterial infection; Fetal Membranes, Premature Rupture|Premature Birth; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; stroke, ischemic; C-reactive protein intima-media thickness; diabetes, type 1 ; bacterial vaginosis; Typhoid Fever; Cleft Lip|Cleft Palate|Tooth Abnormalities; Graves Ophthalmopathy|Thyroid associated opthalmopathies; normal variation; Aggressive Periodontitis|Chronic Periodontitis|; Cellulitis|Obesity; appendicitis; inflammatory bowel disease; Burns|Shock, Septic; Meningeal Neoplasms|meningioma; Chlamydia trachomatis; pregnancy loss; Cerebral Palsy; Macular Degeneration; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; malaria; gram-negative infection; lipopolysaccharide-induced cytokine release; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Type 2 diabetes; Atherosclerosis|Hypercholesterolemia; asthma; candidiasis; high-altitude illness; HIV; Aggressive Periodontitis|; Malaria; Dermatitis, Atopic|; Coronary Artery Disease|Inflammation; lipopolysaccharide hyporesponsiveness; Duodenal Ulcer|Gastritis|Helicobacter Infections|Metaplasia|Stomach Neoplasms; HIV Infections|Lipodystrophy; Brain Ischemia|Stroke; Giant Cell Arteritis|Temporal Arteritis; Parkinson Disease; bacteremia; cholangitis, sclerosing; cervical intraepithelial neoplasia grade 3; Respiratory Syncytial Virus Infections; Celiac Disease; atherosclerosis, coronary; diabetes, type 2; C-reactive protein; vaginal micro-flora; asthma; allergic rhinitis; atopic dermatitis; Apoplexy|Giant Cell Arteritis|Polymyalgia Rheumatica|Stroke|Temporal Arteritis|Vision, Low; Lipopolysaccharide Hyporesponsiveness; Candidiasis, Oral|HIV Infections|Oral candidiasis|[X]Human immunodeficiency virus disease; Respiratory Function Tests; Guillain-Barre syndrome; Leprosy; bronchodilator response; Exercise Test; Cholesterol, LDL; periodontal disease; pancreatic necrosis pancreatitis, acute; infection, postoperative; malaria, plasmodium falciparum; Behcet Syndrome; Acute Coronary Syndrome|; Hepatitis C, Chronic|Reperfusion Injury; Coronary Disease; bronchiolitis; Critical Illness|Systemic inflam response synd|Systemic Inflammatory Response Syndrome; intima-media thickness; chronic obstructive pulmonary disease; Arthritis|Behcet Syndrome|; Glaucoma, Open-Angle; Malaria, Cerebral; Subcutaneous Fat; Systemic responsiveness to lipopolysaccharide; rheumatic heart disease; Crohn Disease|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Helicobacter Infections; pulmonary function; arthritis spondyloarthropathies; Kidney Failure, Chronic; Tuberculosis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Pneumococcal Infections; Gram neg. septic shock; lymphoma, non-Hodgkin; pancreatitis, acute; Asthma|; Chorioamnionitis|Inflammation|Premature Birth; Sepsis|Systemic infection; Virus Diseases; Macular Degeneration|Vision, Low; HIV Infections|Tuberculosis|[X]Human immunodeficiency virus disease; Gastritis|Helicobacter Infections|Stomach Neoplasms; Crohn's disease; ulcerative colitis; Legionnaire's disease; tuberculosis; atherosclerosis; nasopharyngeal cancer; Hepatitis B|Liver Cirrhosis; respiratory syncytial virus bronchiolitis; Malaria, Falciparum|Parasitemia; Adenocarcinoma|Stomach Neoplasms; atherosclerosis, aortic; Myocardial Infarction; Bacteriuria|Urinary tract infection|Urinary Tract Infections; Cerebral Palsy|Pregnancy Complications, Infectious|Virus Diseases; premature rupture of membranes; stomach cancer; colorectal cancer; Chronic Periodontitis|; Albuminuria|Inflammation|Kidney Diseases; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; AIDS-Related Opportunistic Infections|HIV Infections|[X]Human immunodeficiency virus disease; rheumatoid arthritis; Magnesium; Lymphoma, B-Cell, Marginal Zone|Stomach Neoplasms; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Helicobacter Infections|Toxoplasmosis; Bacterial Infections|Liver Cirrhosis; endotoxin hyporesponsiveness; Bronchiolitis, Viral; Cross Infection|Pneumonia, Ventilator-Associated|Sepsis|Systemic infection; atherothrombosis; Arthritis, Reactive|Salmonella Infections; breast cancer ; lymphoma; kidney transplant; systemic inflammatory hyporesponsiveness; preterm delivery; Chlamydia Infections|Fallopian Tube Diseases; Hodgkin Disease|Inflammation; Otitis Media|Recurrence; Lymphoma, Large B-Cell, Diffuse; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; tuberculosis; pneumococcal disease; Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal; acute pancreatitis; diabetes, type 2; Carotid Artery Diseases; Q Fever Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria. IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation GO:0000187;activation of MAPK activity;ISS|GO:0002218;activation of innate immune response;IEA|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002322;B cell proliferation involved in immune response;IEA|GO:0002376;immune system process;IEA|GO:0002537;nitric oxide production involved in inflammatory response;IEA|GO:0002730;regulation of dendritic cell cytokine production;IEA|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0002756;MyD88-independent toll-like receptor signaling pathway;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;IDA|GO:0009617;response to bacterium;IEA|GO:0010572;positive regulation of platelet activation;ISS|GO:0010628;positive regulation of gene expression;IMP|GO:0014002;astrocyte development;IEA|GO:0016046;detection of fungus;NAS|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IGI|GO:0032496;response to lipopolysaccharide;IC|GO:0032497;detection of lipopolysaccharide;IDA|GO:0032609;interferon-gamma production;IEA|GO:0032689;negative regulation of interferon-gamma production;ISS|GO:0032700;negative regulation of interleukin-17 production;ISS|GO:0032707;negative regulation of interleukin-23 production;ISS|GO:0032715;negative regulation of interleukin-6 production;ISS|GO:0032720;negative regulation of tumor necrosis factor production;ISS|GO:0032722;positive regulation of chemokine production;IDA|GO:0032727;positive regulation of interferon-alpha production;ISS|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0032729;positive regulation of interferon-gamma production;ISS|GO:0032732;positive regulation of interleukin-1 production;ISS|GO:0032733;positive regulation of interleukin-10 production;ISS|GO:0032735;positive regulation of interleukin-12 production;ISS|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;ISS|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0034128;negative regulation of MyD88-independent toll-like receptor signaling pathway;TAS|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0042088;T-helper 1 type immune response;NAS|GO:0042116;macrophage activation;IMP|GO:0042346;positive regulation of NF-kappaB import into nucleus;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IDA|GO:0042742;defense response to bacterium;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IDA|GO:0045087;innate immune response;TAS|GO:0045348;positive regulation of MHC class II biosynthetic process;IEA|GO:0045359;positive regulation of interferon-beta biosynthetic process;IEA|GO:0045416;positive regulation of interleukin-8 biosynthetic process;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045671;negative regulation of osteoclast differentiation;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0046330;positive regulation of JNK cascade;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IEA|GO:0050702;interleukin-1 beta secretion;ISS|GO:0050707;regulation of cytokine secretion;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0050729;positive regulation of inflammatory response;IC|GO:0050829;defense response to Gram-negative bacterium;IC|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;ISS|GO:0060729;intestinal epithelial structure maintenance;ISS|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0070266;necroptotic process;TAS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070430;positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway;IEA|GO:0070434;positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;ISS|GO:0071223;cellular response to lipoteichoic acid;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0097190;apoptotic signaling pathway;TAS|GO:1900227;positive regulation of NLRP3 inflammasome complex assembly;ISS GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0046696;lipopolysaccharide receptor complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0001530;lipopolysaccharide binding;IMP|GO:0001875;lipopolysaccharide receptor activity;IDA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TLR4 https://www.uniprot.org/uniprot/O00206 https://hpo.jax.org/app/browse/search?q=TLR4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603030 http://www.informatics.jax.org/searchtool/Search.do?query=TLR4&submit=Quick%0D%7423ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLR4 rs398012010 0 0 0 1 0 0 intronic intronic intronic TLR4 TLR4 ENSG00000136869 Na Na Na Na Na Na Het;-A 328;16|22 Ref Hom;-A 705;3|33 N N - 9 122001000 122001000 G A snp synonymous SNV C618T S206S polar,hydrophilic,neutral polar,hydrophilic,neutral BRINP1 Brinp1 ENSG00000078725 BMP/retinoic acid inducible neural specific 1 chr9:121915736-122131745 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] Asthma; Heart Failure; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Glucose; Exercise Test; Triglycerides; multiple sclerosis; Parkinson's disease ; Cholesterol; Multiple Sclerosis, Relapsing-Remitting; Cornea; Multiple Sclerosis; Echocardiography Homozygous null mice show increased adult neurogenesis in the subgranular zone of the dentate gyrus, altered neuronal differentiation in the hippocampus, and behavioral anomalies such as hyperactivity, reduced anxiety-like behaviors, poor social interaction, and a slight deficit in working memory. GO:0001662;behavioral fear response;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007614;short-term memory;IEA|GO:0008219;cell death;IDA|GO:0035176;social behavior;IEA|GO:0035640;exploration behavior;IEA|GO:0042711;maternal behavior;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071625;vocalization behavior;IEA GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0030425;dendrite;IBA|GO:0043025;neuronal cell body;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BRINP1 https://www.uniprot.org/uniprot/O60477 https://www.ncbi.nlm.nih.gov/omim/?term=602865 http://www.informatics.jax.org/searchtool/Search.do?query=BRINP1&submit=Quick%0D%1673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRINP1 rs2274157 0.442093 0.3513 0.4509 1 0 0 exonic exonic exonic BRINP1 DBC1 ENSG00000078725 synonymous SNV synonymous SNV unknown BRINP1:NM_014618:exon5:c.C618T:p.S206S, DBC1:uc004bkc.2:exon5:c.C618T:p.S206S,DBC1:uc004bkd.2:exon5:c.C618T:p.S206S, UNKNOWN Het;G>A 1188;72|61 Het;G>A 1000;56|50 Hom;G>A 2556;0|99 N N - 9 122004545 122004556 GAGGACAGGGAT G indel intronic BRINP1 Brinp1 ENSG00000078725 BMP/retinoic acid inducible neural specific 1 chr9:121915736-122131745 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] Asthma; Heart Failure; Tobacco Use Disorder; Myocardial Infarction; Parkinson Disease; Glucose; Exercise Test; Triglycerides; multiple sclerosis; Parkinson's disease ; Cholesterol; Multiple Sclerosis, Relapsing-Remitting; Cornea; Multiple Sclerosis; Echocardiography Homozygous null mice show increased adult neurogenesis in the subgranular zone of the dentate gyrus, altered neuronal differentiation in the hippocampus, and behavioral anomalies such as hyperactivity, reduced anxiety-like behaviors, poor social interaction, and a slight deficit in working memory. GO:0001662;behavioral fear response;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007614;short-term memory;IEA|GO:0008219;cell death;IDA|GO:0035176;social behavior;IEA|GO:0035640;exploration behavior;IEA|GO:0042711;maternal behavior;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045786;negative regulation of cell cycle;IDA|GO:0045930;negative regulation of mitotic cell cycle;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071625;vocalization behavior;IEA GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IBA|GO:0030425;dendrite;IBA|GO:0043025;neuronal cell body;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BRINP1 https://www.uniprot.org/uniprot/O60477 https://www.ncbi.nlm.nih.gov/omim/?term=602865 http://www.informatics.jax.org/searchtool/Search.do?query=BRINP1&submit=Quick%0D%1673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRINP1 rs3831067 0.40595 0 0.4332 1 0 0 intronic intronic intronic BRINP1 DBC1 ENSG00000078725 Na Na Na Na Na Na Het;-AGGACAGGGAT 599;13|18 Het;-AGGACAGGGAT 409;30|13 Hom;-AGGACAGGGAT 1470;0|37 N N - 9 123280950 123280950 T C snp intronic CDK5RAP2 Cdk5rap2 ENSG00000136861 CDK5 regulatory subunit associated protein 2 chr9:123151147-123342448 This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Micrencephaly |Microcephaly; Alcoholism Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2 https://www.uniprot.org/uniprot/Q96SN8 https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608201 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2 rs2095064 0.795727 0.8369 0.8763 1 0 0 intronic intronic intronic CDK5RAP2 CDK5RAP2 ENSG00000136861 Na Na Na Na Na Na Het;T>C 618;59|33 Ref Hom;T>C 2203;0|81 N N - 9 123291036 123291036 C G snp nonsynonymous SNV G865C E289Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral CDK5RAP2 Cdk5rap2 ENSG00000136861 CDK5 regulatory subunit associated protein 2 chr9:123151147-123342448 This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Micrencephaly |Microcephaly; Alcoholism Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2 https://www.uniprot.org/uniprot/Q96SN8 https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608201 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2 rs4836822 0.801118 0.8484 0.8772 0.62 8 13 exonic exonic exonic CDK5RAP2 CDK5RAP2 ENSG00000136861 nonsynonymous SNV nonsynonymous SNV unknown CDK5RAP2:NM_018249:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_001011649:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_001272039:exon9:c.G865C:p.E289Q, CDK5RAP2:uc004bkf.4:exon9:c.G865C:p.E289Q,CDK5RAP2:uc004bkg.4:exon9:c.G865C:p.E289Q,CDK5RAP2:uc004bki.3:exon3:c.G262C:p.E88Q,CDK5RAP2:uc004bkh.2:exon9:c.G865C:p.E289Q, UNKNOWN Het;C>G 857;51|39 Ref Hom;C>G 3698;0|138 N N - 9 123313246 123313246 T C snp intronic CDK5RAP2 Cdk5rap2 ENSG00000136861 CDK5 regulatory subunit associated protein 2 chr9:123151147-123342448 This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Micrencephaly |Microcephaly; Alcoholism Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2 https://www.uniprot.org/uniprot/Q96SN8 https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608201 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2 rs954214 0.79992 0 0 1 0 0 intronic intronic intronic CDK5RAP2 CDK5RAP2 ENSG00000136861 Na Na Na Na Na Na Het;T>C 370;16|13 Ref Hom;T>C 1423;0|46 N N - 9 123330813 123330813 T C snp intronic CDK5RAP2 Cdk5rap2 ENSG00000136861 CDK5 regulatory subunit associated protein 2 chr9:123151147-123342448 This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Micrencephaly |Microcephaly; Alcoholism Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000132;establishment of mitotic spindle orientation;IEA|GO:0000226;microtubule cytoskeleton organization;IDA|GO:0001578;microtubule bundle formation;IDA|GO:0007059;chromosome segregation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007099;centriole replication;IMP|GO:0007420;brain development;IEA|GO:0022008;neurogenesis;IEA|GO:0031023;microtubule organizing center organization;IMP|GO:0045664;regulation of neuron differentiation;NAS|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0046600;negative regulation of centriole replication;IEA|GO:0090231;regulation of spindle checkpoint;IDA|GO:0097711;ciliary basal body docking;TAS GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0035371;microtubule plus-end;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097431;mitotic spindle pole;IEA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IDA|GO:0015631;tubulin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP2 https://www.uniprot.org/uniprot/Q96SN8 https://hpo.jax.org/app/browse/search?q=CDK5RAP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608201 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP2&submit=Quick%0D%7419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP2 rs4837782 0.823283 0 0 1 0 0 intronic intronic intronic CDK5RAP2 CDK5RAP2 ENSG00000136861 Na Na Na Na Na Na Het;T>C 75;5|3 Ref Hom;T>C 150;0|5 N N - 9 123370345 123370345 C G snp intronic MEGF9 Megf9 ENSG00000106780 multiple EGF like domains 9 chr9:123363091-123476748 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005604;basement membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEGF9 https://www.uniprot.org/uniprot/Q9H1U4 https://www.ncbi.nlm.nih.gov/omim/?term=604268 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF9&submit=Quick%0D%3549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF9 rs991121 0.566494 0 0 1 0 0 intronic intronic intronic MEGF9 MEGF9 ENSG00000106780 Na Na Na Na Na Na Het;C>G 455;27|17 Het;C>G 684;24|31 Hom;C>G 1976;0|69 N N - 9 123374639 123374639 T C snp intronic MEGF9 Megf9 ENSG00000106780 multiple EGF like domains 9 chr9:123363091-123476748 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005604;basement membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEGF9 https://www.uniprot.org/uniprot/Q9H1U4 https://www.ncbi.nlm.nih.gov/omim/?term=604268 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF9&submit=Quick%0D%3549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF9 rs2416760 0.555711 0.4916 0.6650 1 0 0 intronic intronic intronic MEGF9 MEGF9 ENSG00000106780 Na Na Na Na Na Na Het;T>C 540;9|22 Het;T>C 545;34|23 Hom;T>C 1524;0|50 N N - 9 123421556 123421556 C T snp UTR3 *92G>A MEGF9 Megf9 ENSG00000106780 multiple EGF like domains 9 chr9:123363091-123476748 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005604;basement membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEGF9 https://www.uniprot.org/uniprot/Q9H1U4 https://www.ncbi.nlm.nih.gov/omim/?term=604268 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF9&submit=Quick%0D%3549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF9 rs10984974 0.564896 0 0 1 0 0 intronic UTR3 intronic MEGF9 MEGF9(uc004bkk.4:c.*92G>A) ENSG00000106780 Na Na Na Na Na Na Het;C>T 61;9|3 Het;C>T 63;8|3 Hom;C>T 175;0|6 N N - 9 123476542 123476548 ACGGCGG A indel nonframeshift substitution 89_95T MEGF9 Megf9 ENSG00000106780 multiple EGF like domains 9 chr9:123363091-123476748 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005604;basement membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEGF9 https://www.uniprot.org/uniprot/Q9H1U4 https://www.ncbi.nlm.nih.gov/omim/?term=604268 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF9&submit=Quick%0D%3549ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF9 rs369989873 0.66873 0.7361 0.7795 1 0 0 exonic exonic exonic MEGF9 MEGF9 ENSG00000106780 nonframeshift substitution nonframeshift substitution unknown MEGF9:NM_001080497:exon1:c.89_95T, MEGF9:uc022bms.1:exon1:c.89_95T,MEGF9:uc004bkj.2:exon1:c.65_71T,MEGF9:uc004bkk.4:exon1:c.65_71T, UNKNOWN Het;-CGGCGG 254;1|7 Ref Hom;-CGGCGG 143;0|4 N N - 9 123483222 123483224 CTT C indel ncRNA_exonic AHCYP2 rs71506249 0.565895 0 0 1 0 0 intergenic intergenic ncRNA_exonic MEGF9(dist=6457),FBXW2(dist=36030) MEGF9(dist=6457),FBXW2(dist=36030) ENSG00000238181 Na Na Na Na Na Na Het;-TT 76;1|3 Ref Hom;-TT 233;0|6 N N - 9 123483621 123483621 G A snp ncRNA_exonic AHCYP2 rs4837793 0.60623 0 0 1 0 0 intergenic intergenic ncRNA_exonic MEGF9(dist=6856),FBXW2(dist=35633) MEGF9(dist=6856),FBXW2(dist=35633) ENSG00000238181 Na Na Na Na Na Na Het;G>A 84;4|5 Het;G>A 38;7|4 Hom;G>A 297;0|12 N N - 9 123484115 123484115 A G snp ncRNA_exonic AHCYP2 rs10985000 0.564696 0 0 1 0 0 intergenic intergenic ncRNA_exonic MEGF9(dist=7350),FBXW2(dist=35139) MEGF9(dist=7350),FBXW2(dist=35139) ENSG00000238181 Na Na Na Na Na Na Het;A>G 85;2|4 Ref Hom;A>G 253;0|10 N N - 9 123484155 123484155 A C snp ncRNA_exonic AHCYP2 rs10818473 0.607029 0 0 1 0 0 intergenic intergenic ncRNA_exonic MEGF9(dist=7390),FBXW2(dist=35099) MEGF9(dist=7390),FBXW2(dist=35099) ENSG00000238181 Na Na Na Na Na Na Het;A>C 83;4|4 Ref Hom;A>C 267;0|9 N N - 9 123550027 123550027 G A snp intronic FBXW2 Fbxw2 ENSG00000119402 F-box and WD repeat domain containing 2 chr9:123514256-123555690 F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0006464;cellular protein modification process;TAS|GO:0006508;proteolysis;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXW2 https://www.uniprot.org/uniprot/Q9UKT8 https://www.ncbi.nlm.nih.gov/omim/?term=609071 http://www.informatics.jax.org/searchtool/Search.do?query=FBXW2&submit=Quick%0D%5057ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW2 rs7026635 0.755591 0.7708 0.7535 1 0 0 intronic intronic intronic FBXW2 FBXW2 ENSG00000119402 Na Na Na Na Na Na Het;G>A 290;4|12 Het;G>A 359;10|17 Hom;G>A 687;0|27 N N - 9 123583192 123583192 A G snp synonymous SNV T1182C D394D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PSMD5 Psmd5 ENSG00000095261 proteasome 26S subunit, non-ATPase 5 chr9:123577774-123605262 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012] Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043248;proteasome assembly;IEA|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0070682;proteasome regulatory particle assembly;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008540;proteasome regulatory particle, base subcomplex;IDA|GO:0022624;proteasome accessory complex;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMD5 https://www.uniprot.org/uniprot/Q16401 https://www.ncbi.nlm.nih.gov/omim/?term=604452 http://www.informatics.jax.org/searchtool/Search.do?query=PSMD5&submit=Quick%0D%2239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMD5 rs1060817 0.488419 0.4713 0.5794 1 0 0 exonic exonic exonic PSMD5 PSMD5 ENSG00000095261 synonymous SNV synonymous SNV unknown PSMD5:NM_005047:exon9:c.T1182C:p.D394D,PSMD5:NM_001270427:exon8:c.T1053C:p.D351D, PSMD5:uc004bko.4:exon9:c.T1182C:p.D394D,PSMD5:uc011lye.3:exon8:c.T1053C:p.D351D, UNKNOWN Het;A>G 1589;100|69 Het;A>G 1076;79|50 Hom;A>G 4634;2|168 N N - 9 123586737 123586737 T G snp intronic PSMD5 Psmd5 ENSG00000095261 proteasome 26S subunit, non-ATPase 5 chr9:123577774-123605262 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012] Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043248;proteasome assembly;IEA|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0070682;proteasome regulatory particle assembly;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008540;proteasome regulatory particle, base subcomplex;IDA|GO:0022624;proteasome accessory complex;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PSMD5 https://www.uniprot.org/uniprot/Q16401 https://www.ncbi.nlm.nih.gov/omim/?term=604452 http://www.informatics.jax.org/searchtool/Search.do?query=PSMD5&submit=Quick%0D%2239ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMD5 rs10760117 0.489217 0.4709 0.5815 1 0 0 intronic intronic intronic PSMD5 PSMD5 ENSG00000095261 Na Na Na Na Na Na Het;T>G 153;7|6 Het;T>G 167;4|7 Hom;T>G 201;0|8 N N - 9 123605711 123605727 CGAAGGCGTGAGTAATA C indel ncRNA_exonic PSMD5-AS1 rs29001669 0.48722 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PSMD5-AS1 DQ573668,LOC253039 ENSG00000226752 Na Na Na Na Na Na Het;-GAAGGCGTGAGTAATA 602;25|17 Het;-GAAGGCGTGAGTAATA 690;24|20 Hom;-GAAGGCGTGAGTAATA 1144;0|28 N N - 9 123618229 123618229 A G snp UTR3 *1993T>C PHF19 Phf19 ENSG00000119403 PHD finger protein 19 chr9:123617977-123639606 Arthritis, Rheumatoid; Autoimmune Diseases PRC2 methylates histones and DNA GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0048863;stem cell differentiation;IEA|GO:0061087;positive regulation of histone H3-K27 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF19 https://www.uniprot.org/uniprot/Q5T6S3 https://www.ncbi.nlm.nih.gov/omim/?term=609740 http://www.informatics.jax.org/searchtool/Search.do?query=PHF19&submit=Quick%0D%5058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF19 rs1837 0.726038 0 0 1 0 0 UTR3 UTR3 UTR3 PHF19(NM_015651:c.*1993T>C,NM_001286842:c.*1993T>C,NM_001286840:c.*1993T>C) PHF19(uc011lyf.1:c.*1993T>C,uc004bks.1:c.*1993T>C) ENSG00000119403(ENST00000373896:c.*1993T>C) Na Na Na Na Na Na Het;A>G 1673;63|63 Het;A>G 1679;82|73 Hom;A>G 3276;0|109 N N - 9 123618971 123618971 A G snp UTR3 *1251T>C PHF19 Phf19 ENSG00000119403 PHD finger protein 19 chr9:123617977-123639606 Arthritis, Rheumatoid; Autoimmune Diseases PRC2 methylates histones and DNA GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0048863;stem cell differentiation;IEA|GO:0061087;positive regulation of histone H3-K27 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF19 https://www.uniprot.org/uniprot/Q5T6S3 https://www.ncbi.nlm.nih.gov/omim/?term=609740 http://www.informatics.jax.org/searchtool/Search.do?query=PHF19&submit=Quick%0D%5058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF19 rs914842 0.74381 0 0 1 0 0 UTR3 UTR3 UTR3 PHF19(NM_015651:c.*1251T>C,NM_001286842:c.*1251T>C,NM_001286840:c.*1251T>C) PHF19(uc011lyf.1:c.*1251T>C,uc004bks.1:c.*1251T>C) ENSG00000119403(ENST00000373896:c.*1251T>C) Na Na Na Na Na Na Het;A>G 2165;128|95 Het;A>G 1851;94|86 Hom;A>G 4674;0|168 N N - 9 123631225 123631225 A G snp intronic PHF19 Phf19 ENSG00000119403 PHD finger protein 19 chr9:123617977-123639606 Arthritis, Rheumatoid; Autoimmune Diseases PRC2 methylates histones and DNA GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0048863;stem cell differentiation;IEA|GO:0061087;positive regulation of histone H3-K27 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF19 https://www.uniprot.org/uniprot/Q5T6S3 https://www.ncbi.nlm.nih.gov/omim/?term=609740 http://www.informatics.jax.org/searchtool/Search.do?query=PHF19&submit=Quick%0D%5058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF19 rs7847628 0.63738 0 0 1 0 0 intronic intronic intronic PHF19 PHF19 ENSG00000119403 Na Na Na Na Na Na Het;A>G 83;9|4 Het;A>G 48;4|3 Hom;A>G 166;0|7 N N - 9 123631642 123631642 G C snp intronic PHF19 Phf19 ENSG00000119403 PHD finger protein 19 chr9:123617977-123639606 Arthritis, Rheumatoid; Autoimmune Diseases PRC2 methylates histones and DNA GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0048863;stem cell differentiation;IEA|GO:0061087;positive regulation of histone H3-K27 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF19 https://www.uniprot.org/uniprot/Q5T6S3 https://www.ncbi.nlm.nih.gov/omim/?term=609740 http://www.informatics.jax.org/searchtool/Search.do?query=PHF19&submit=Quick%0D%5058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF19 rs3753029 0.510383 0.4809 0.6080 1 0 0 intronic intronic intronic PHF19 PHF19 ENSG00000119403 Na Na Na Na Na Na Het;G>C 884;44|43 Het;G>C 602;33|30 Hom;G>C 2522;0|94 N N - 9 123632045 123632045 A G snp synonymous SNV T543C S181S polar,hydrophilic,neutral polar,hydrophilic,neutral PHF19 Phf19 ENSG00000119403 PHD finger protein 19 chr9:123617977-123639606 Arthritis, Rheumatoid; Autoimmune Diseases PRC2 methylates histones and DNA GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0048863;stem cell differentiation;IEA|GO:0061087;positive regulation of histone H3-K27 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF19 https://www.uniprot.org/uniprot/Q5T6S3 https://www.ncbi.nlm.nih.gov/omim/?term=609740 http://www.informatics.jax.org/searchtool/Search.do?query=PHF19&submit=Quick%0D%5058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF19 rs1056567 0.63778 0.6450 0.7157 1 0 0 exonic exonic exonic PHF19 PHF19 ENSG00000119403 synonymous SNV synonymous SNV unknown PHF19:NM_001009936:exon5:c.T543C:p.S181S, PHF19:uc004bkt.3:exon5:c.T543C:p.S181S, UNKNOWN Het;A>G 1280;52|54 Het;A>G 882;52|43 Hom;A>G 2834;0|104 N N - 9 123632829 123632829 G C snp intronic PHF19 Phf19 ENSG00000119403 PHD finger protein 19 chr9:123617977-123639606 Arthritis, Rheumatoid; Autoimmune Diseases PRC2 methylates histones and DNA GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0048863;stem cell differentiation;IEA|GO:0061087;positive regulation of histone H3-K27 methylation;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035098;ESC/E(Z) complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PHF19 https://www.uniprot.org/uniprot/Q5T6S3 https://www.ncbi.nlm.nih.gov/omim/?term=609740 http://www.informatics.jax.org/searchtool/Search.do?query=PHF19&submit=Quick%0D%5058ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF19 rs4836833 0.636981 0.6440 0.6830 1 0 0 intronic intronic intronic PHF19 PHF19 ENSG00000119403 Na Na Na Na Na Na Het;G>C 555;40|29 Het;G>C 680;30|26 Hom;G>C 1660;0|57 N N - 9 125282393 125282393 C T snp downstream OR1J4 Olfr350 ENSG00000239590 olfactory receptor family 1 subfamily J member 4 chr9:125281420-125282361 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR1J4 http://www.informatics.jax.org/searchtool/Search.do?query=OR1J4&submit=Quick%0D%19572ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1J4 rs1318392 0.608427 0.5306 0.5226 1 0 0 downstream downstream downstream OR1J4 OR1J4 ENSG00000239590 Na Na Na Na Na Na Het;C>T 854;27|33 Ref Hom;C>T 1949;0|70 N N - 9 125289083 125289083 A G snp synonymous SNV T490C L164L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR1N1 Olfr351 ENSG00000171505 olfactory receptor family 1 subfamily N member 1 chr9:125288637-125289572 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR1N1 http://www.informatics.jax.org/searchtool/Search.do?query=OR1N1&submit=Quick%0D%12951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1N1 rs16911867 0.390575 0.3221 0.3497 1 0 0 exonic exonic exonic OR1N1 OR1N1 ENSG00000171505 synonymous SNV synonymous SNV unknown OR1N1:NM_012363:exon1:c.T490C:p.L164L, OR1N1:uc004bmn.1:exon1:c.T490C:p.L164L, UNKNOWN Het;A>G 1973;106|84 Ref Hom;A>G 4105;2|146 N N - 9 125289521 125289521 G A snp nonsynonymous SNV C52T P18S hydrophobic,neutral polar,hydrophilic,neutral OR1N1 Olfr351 ENSG00000171505 olfactory receptor family 1 subfamily N member 1 chr9:125288637-125289572 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR1N1 http://www.informatics.jax.org/searchtool/Search.do?query=OR1N1&submit=Quick%0D%12951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1N1 rs10818708 0.708466 0.5680 0.5655 0.08 1 13 exonic exonic exonic OR1N1 OR1N1 ENSG00000171505 nonsynonymous SNV nonsynonymous SNV unknown OR1N1:NM_012363:exon1:c.C52T:p.P18S, OR1N1:uc004bmn.1:exon1:c.C52T:p.P18S, UNKNOWN Het;G>A 815;57|35 Ref Hom;G>A 2245;0|82 N N - 9 125315418 125315418 G C snp UTR5 -31G>C OR1N2 Olfr354 ENSG00000171501 olfactory receptor family 1 subfamily N member 2 chr9:125315391-125316493 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR1N2 http://www.informatics.jax.org/searchtool/Search.do?query=OR1N2&submit=Quick%0D%12948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1N2 rs1411270 0.380791 0.2841 0.3068 1 0 0 upstream upstream UTR5 OR1N2 OR1N2 ENSG00000171501(ENST00000373688:c.-31G>C) Na Na Na Na Na Na Het;G>C 532;36|24 Ref Hom;G>C 1573;0|55 N N - 9 125315542 125315542 C T snp synonymous SNV C94T L32L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR1N2 Olfr354 ENSG00000171501 olfactory receptor family 1 subfamily N member 2 chr9:125315391-125316493 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR1N2 http://www.informatics.jax.org/searchtool/Search.do?query=OR1N2&submit=Quick%0D%12948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1N2 rs1831369 0.380591 0.2844 0.3086 1 0 0 exonic exonic exonic OR1N2 OR1N2 ENSG00000171501 synonymous SNV synonymous SNV unknown OR1N2:NM_001004457:exon1:c.C94T:p.L32L, OR1N2:uc011lyx.2:exon1:c.C94T:p.L32L, UNKNOWN Het;C>T 1680;112|76 Ref Hom;C>T 4144;0|149 N N - 9 125316455 125316455 C T snp UTR3 *14C>T OR1N2 Olfr354 ENSG00000171501 olfactory receptor family 1 subfamily N member 2 chr9:125315391-125316493 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR1N2 http://www.informatics.jax.org/searchtool/Search.do?query=OR1N2&submit=Quick%0D%12948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1N2 rs7039436 0.428914 0.2792 0.3388 1 0 0 downstream downstream UTR3 OR1N2 OR1N2 ENSG00000171501(ENST00000373688:c.*14C>T) Na Na Na Na Na Na Het;C>T 622;20|24 Ref Hom;C>T 1105;0|36 N N - 9 127619553 127619553 C G snp intronic WDR38 Wdr38 ENSG00000136918 WD repeat domain 38 chr9:127615755-127620160 GO:0002244;hematopoietic progenitor cell differentiation;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR38 https://www.uniprot.org/uniprot/Q5JTN6 http://www.informatics.jax.org/searchtool/Search.do?query=WDR38&submit=Quick%0D%7437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR38 rs10819000 0.494409 0 0 1 0 0 intronic intronic intronic WDR38 WDR38 ENSG00000136918 Na Na Na Na Na Na Het;C>G 420;11|14 Ref Hom;C>G 523;0|15 N N - 9 127733926 127733926 C T snp intronic SCAI Scai ENSG00000173611 suppressor of cancer cell invasion chr9:127704887-127905785 This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Insulin; Tobacco Use Disorder; Leukocyte Count; Tunica Media; Insulin Resistance Homozygous mice of both sexes are sub-fertile owing to compromised meiotic synapsis and homologous recombination-mediated double-strand break DNA repair. RHO GTPases Activate Formins GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0030336;negative regulation of cell migration;IMP|GO:0035024;negative regulation of Rho protein signal transduction;ISS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA GO:0003714;transcription corepressor activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SCAI http://www.informatics.jax.org/searchtool/Search.do?query=SCAI&submit=Quick%0D%13394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAI rs2289631 0.64996 0.6017 0.6276 1 0 0 intronic intronic intronic SCAI SCAI ENSG00000173611 Na Na Na Na Na Na Het;C>T 436;13|20 Ref Hom;C>T 1350;0|49 N N - 9 127757310 127757310 C T snp intronic SCAI Scai ENSG00000173611 suppressor of cancer cell invasion chr9:127704887-127905785 This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Insulin; Tobacco Use Disorder; Leukocyte Count; Tunica Media; Insulin Resistance Homozygous mice of both sexes are sub-fertile owing to compromised meiotic synapsis and homologous recombination-mediated double-strand break DNA repair. RHO GTPases Activate Formins GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0030336;negative regulation of cell migration;IMP|GO:0035024;negative regulation of Rho protein signal transduction;ISS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA GO:0003714;transcription corepressor activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SCAI http://www.informatics.jax.org/searchtool/Search.do?query=SCAI&submit=Quick%0D%13394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAI rs6478690 0.684305 0.6338 0.6453 1 0 0 intronic intronic intronic SCAI SCAI ENSG00000173611 Na Na Na Na Na Na Het;C>T 1196;61|51 Ref Hom;C>T 3364;0|128 N N - 9 12775861 12775861 T TGGCGGCGGC indel nonframeshift substitution 147_147delinsTGGCGGCGGC LURAP1L Lurap1l ENSG00000153714 leucine rich adaptor protein 1 like chr9:12775020-12822130 Coronary Artery Disease http://www.genecards.org/index.php?path=/Search/keyword/LURAP1L https://www.uniprot.org/uniprot/Q8IV03 https://www.ncbi.nlm.nih.gov/omim/?term=616130 http://www.informatics.jax.org/searchtool/Search.do?query=LURAP1L&submit=Quick%0D%9679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LURAP1L rs139315731 0 0 0.7280 1 0 0 exonic exonic exonic LURAP1L LURAP1L ENSG00000153714 nonframeshift substitution nonframeshift substitution unknown LURAP1L:NM_203403:exon1:c.147_147delinsTGGCGGCGGC, LURAP1L:uc003zkw.3:exon1:c.147_147delinsTGGCGGCGGC, UNKNOWN Het;+GGCGGCGGC 2844;73|77 Het;+GGCGGCGGC 1692;59|45 Hom;+GGCGGCGGC 4210;0|99 N N - 9 12775889 12775889 A G snp nonsynonymous SNV A175G S59G polar,hydrophilic,neutral aliphatic,neutral LURAP1L Lurap1l ENSG00000153714 leucine rich adaptor protein 1 like chr9:12775020-12822130 Coronary Artery Disease http://www.genecards.org/index.php?path=/Search/keyword/LURAP1L https://www.uniprot.org/uniprot/Q8IV03 https://www.ncbi.nlm.nih.gov/omim/?term=616130 http://www.informatics.jax.org/searchtool/Search.do?query=LURAP1L&submit=Quick%0D%9679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LURAP1L rs3750501 0.68131 0 0.7520 0.08 1 13 exonic exonic exonic LURAP1L LURAP1L ENSG00000153714 nonsynonymous SNV nonsynonymous SNV unknown LURAP1L:NM_203403:exon1:c.A175G:p.S59G, LURAP1L:uc003zkw.3:exon1:c.A175G:p.S59G, UNKNOWN Het;A>G 1679;96|80 Het;A>G 1321;73|66 Hom;A>G 3715;1|137 N N - 9 129037975 129037975 C T snp ncRNA_intronic BC031239 rs1888157 0.507788 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101929116 BC031239 ENSG00000228392 Na Na Na Na Na Na Het;C>T 323;6|11 Ref Hom;C>T 224;0|7 N N - 9 129315422 129315422 G A snp intergenic MVB12B Mvb12b ENSG00000196814 multivesicular body subunit 12B chr9:129089128-129269320 The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Cleft Lip|Cleft Palate; Tobacco Use Disorder; Iron Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0019058;viral life cycle;TAS|GO:0019075;virus maturation;IMP|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IC|GO:0048524;positive regulation of viral process;IMP|GO:0075733;intracellular transport of virus;TAS GO:0000813;ESCRT I complex;IDA|GO:0005634;nucleus;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/MVB12B http://www.informatics.jax.org/searchtool/Search.do?query=MVB12B&submit=Quick%0D%16472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVB12B rs7031847 0.421725 0 0 1 0 0 intergenic intergenic intergenic MVB12B(dist=46102),LMX1B(dist=61300) Mir_1302(dist=22174),LMX1B(dist=61300) ENSG00000221768(dist=22152),ENSG00000221173(dist=23387) Na Na Na Na Na Na Het;G>A 100;6|5 Ref Hom;G>A 270;0|9 N N - 9 129460312 129460312 A G snp UTR3 *1582A>G LMX1B Lmx1b ENSG00000136944 LIM homeobox transcription factor 1 beta chr9:129376722-129463311 This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Body Mass Index; antisocial behavioural traits; Glaucoma, Open-Angle|Ocular Hypertension; Parkinson's disease; Chromosome Aberrations|Chromosome abnormality|Craniosynostoses|Craniosynostosis|Genetic Diseases, Inborn; Schizophrenia; Cleft Lip|Cleft Palate; Parkinson's disease Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. GO:0001701;in utero embryonic development;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0007275;multicellular organism development;IEA|GO:0009953;dorsal/ventral pattern formation;ISS|GO:0030182;neuron differentiation;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0071542;dopaminergic neuron differentiation;ISS GO:0005634;nucleus;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;ISS|GO:0000983;transcription factor activity, RNA polymerase II core promoter sequence-specific;ISS|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMX1B https://www.uniprot.org/uniprot/O60663 https://hpo.jax.org/app/browse/search?q=LMX1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602575 http://www.informatics.jax.org/searchtool/Search.do?query=LMX1B&submit=Quick%0D%7451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMX1B rs10987415 0.410343 0 0 1 0 0 UTR3 UTR3 UTR3 LMX1B(NM_001174147:c.*1582A>G,NM_001174146:c.*1582A>G,NM_002316:c.*1582A>G) LMX1B(uc011maa.2:c.*1582A>G,uc004bqi.3:c.*1582A>G,uc004bqj.3:c.*1582A>G) ENSG00000136944(ENST00000425646:c.*1582A>G,ENST00000355497:c.*1582A>G) Na Na Na Na Na Na Het;A>G 152;4|5 Ref Hom;A>G 143;0|4 N N - 9 130075672 130075672 C T snp intronic GARNL3 Garnl3 ENSG00000136895 GTPase activating Rap/RanGAP domain like 3 chr9:129986544-130155939 Tobacco Use Disorder; Bipolar Disorder GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA GO:0005096;GTPase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GARNL3 https://www.uniprot.org/uniprot/Q5VVW2 http://www.informatics.jax.org/searchtool/Search.do?query=GARNL3&submit=Quick%0D%7434ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GARNL3 rs2779714 0.361621 0.4314 0.4676 1 0 0 intronic intronic intronic GARNL3 GARNL3 ENSG00000136895 Na Na Na Na Na Na Het;C>T 652;19|28 Het;C>T 423;16|19 Hom;C>T 1190;0|42 N N - 9 130164818 130164818 T C snp intronic SLC2A8 Slc2a8 ENSG00000136856 solute carrier family 2 member 8 chr9:130159421-130170703 This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] Homozygotes for one null allele show reduced spermatozoan ATP levels, mitochondrial membrane potential and sperm motility, and a slight deviation from the expected Mendelian frequency. Homozygotes for another null allele show increased hippocampus cell proliferation and cardiac P-wave duration. Clathrin-mediated endocytosis GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;TAS|GO:0006810;transport;IEA|GO:0007141;male meiosis I;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015758;glucose transport;TAS|GO:0015992;proton transport;IEA|GO:0046323;glucose import;IBA|GO:0055085;transmembrane transport;IEA|GO:0061024;membrane organization;TAS|GO:1904659;glucose transmembrane transport;IEA GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA GO:0005215;transporter activity;IEA|GO:0005351;sugar:proton symporter activity;IBA|GO:0005355;glucose transmembrane transporter activity;TAS|GO:0005536;glucose binding;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0055056;D-glucose transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC2A8 https://www.uniprot.org/uniprot/Q9NY64 https://www.ncbi.nlm.nih.gov/omim/?term=605245 http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A8&submit=Quick%0D%7417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A8 rs3802367 0.733826 0.7257 0.7975 1 0 0 intronic intronic intronic SLC2A8 SLC2A8 ENSG00000136856 Na Na Na Na Na Na Het;T>C 183;11|9 Ref Hom;T>C 300;0|12 N N - 9 130166957 130166957 T C snp intronic SLC2A8 Slc2a8 ENSG00000136856 solute carrier family 2 member 8 chr9:130159421-130170703 This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] Homozygotes for one null allele show reduced spermatozoan ATP levels, mitochondrial membrane potential and sperm motility, and a slight deviation from the expected Mendelian frequency. Homozygotes for another null allele show increased hippocampus cell proliferation and cardiac P-wave duration. Clathrin-mediated endocytosis GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;TAS|GO:0006810;transport;IEA|GO:0007141;male meiosis I;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015758;glucose transport;TAS|GO:0015992;proton transport;IEA|GO:0046323;glucose import;IBA|GO:0055085;transmembrane transport;IEA|GO:0061024;membrane organization;TAS|GO:1904659;glucose transmembrane transport;IEA GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA GO:0005215;transporter activity;IEA|GO:0005351;sugar:proton symporter activity;IBA|GO:0005355;glucose transmembrane transporter activity;TAS|GO:0005536;glucose binding;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0055056;D-glucose transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC2A8 https://www.uniprot.org/uniprot/Q9NY64 https://www.ncbi.nlm.nih.gov/omim/?term=605245 http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A8&submit=Quick%0D%7417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A8 rs3802364 0.576478 0 0 1 0 0 intronic intronic intronic SLC2A8 SLC2A8 ENSG00000136856 Na Na Na Na Na Na Het;T>C 226;4|7 Het;T>C 192;4|6 Hom;T>C 129;0|4 N N - 9 130191186 130191186 C T snp nonsynonymous SNV C20T T7I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZNF79 ENSG00000196152 zinc finger protein 79 chr9:130186661-130207651 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF79 https://www.ncbi.nlm.nih.gov/omim/?term=194552 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF79&submit=Quick%0D%16271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF79 rs13292096 0.557508 0.6061 0.5879 0.08 1 12 exonic exonic exonic ZNF79 ZNF79 ENSG00000196152 nonsynonymous SNV nonsynonymous SNV unknown ZNF79:NM_007135:exon2:c.C92T:p.T31I,ZNF79:NM_001286696:exon2:c.C20T:p.T7I,ZNF79:NM_001286697:exon3:c.C20T:p.T7I, ZNF79:uc011mag.2:exon2:c.C20T:p.T7I,ZNF79:uc011maf.2:exon3:c.C20T:p.T7I,ZNF79:uc004bqw.4:exon2:c.C92T:p.T31I, UNKNOWN Het;C>T 636;42|32 Het;C>T 634;47|33 Hom;C>T 1872;2|76 N N - 9 130197414 130197414 A G snp nonsynonymous SNV A79G R27G polar,hydrophilic,charged(+) aliphatic,neutral ZNF79 ENSG00000196152 zinc finger protein 79 chr9:130186661-130207651 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF79 https://www.ncbi.nlm.nih.gov/omim/?term=194552 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF79&submit=Quick%0D%16271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF79 rs4504745 0.560903 0.6086 0.5882 0.08 1 12 exonic exonic exonic ZNF79 ZNF79 ENSG00000196152 nonsynonymous SNV nonsynonymous SNV unknown ZNF79:NM_007135:exon3:c.A151G:p.R51G,ZNF79:NM_001286696:exon3:c.A79G:p.R27G,ZNF79:NM_001286697:exon4:c.A79G:p.R27G, ZNF79:uc011mag.2:exon3:c.A79G:p.R27G,ZNF79:uc011maf.2:exon4:c.A79G:p.R27G,ZNF79:uc004bqw.4:exon3:c.A151G:p.R51G, UNKNOWN Het;A>G 1870;67|89 Het;A>G 1024;47|48 Hom;A>G 3051;0|112 N N - 9 130198100 130198100 A G snp intronic ZNF79 ENSG00000196152 zinc finger protein 79 chr9:130186661-130207651 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF79 https://www.ncbi.nlm.nih.gov/omim/?term=194552 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF79&submit=Quick%0D%16271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF79 rs7853047 0.557508 0 0 1 0 0 intronic intronic intronic ZNF79 ZNF79 ENSG00000196152 Na Na Na Na Na Na Het;A>G 96;7|5 Het;A>G 86;7|4 Hom;A>G 217;0|8 N N - 9 130198342 130198342 G A snp intronic ZNF79 ENSG00000196152 zinc finger protein 79 chr9:130186661-130207651 hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF79 https://www.ncbi.nlm.nih.gov/omim/?term=194552 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF79&submit=Quick%0D%16271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF79 rs4500179 0.557708 0 0 1 0 0 intronic intronic intronic ZNF79 ZNF79 ENSG00000196152 Na Na Na Na Na Na Het;G>A 149;9|7 Het;G>A 175;6|8 Hom;G>A 534;0|20 N N - 9 130210111 130210111 T C snp intronic RPL12 Rpl12 ENSG00000197958 ribosomal protein L12 chr9:130209953-130213684 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;NAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RPL12 https://www.ncbi.nlm.nih.gov/omim/?term=180475 http://www.informatics.jax.org/searchtool/Search.do?query=RPL12&submit=Quick%0D%16767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL12 rs1139400 0.571486 0.6288 0.6139 1 0 0 intronic intronic intronic RPL12 RPL12 ENSG00000197958 Na Na Na Na Na Na Het;T>C 958;37|46 Het;T>C 812;22|36 Hom;T>C 1476;0|56 N N - 9 130210946 130210946 A G snp intronic RPL12 Rpl12 ENSG00000197958 ribosomal protein L12 chr9:130209953-130213684 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;NAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RPL12 https://www.ncbi.nlm.nih.gov/omim/?term=180475 http://www.informatics.jax.org/searchtool/Search.do?query=RPL12&submit=Quick%0D%16767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL12 rs2247573 0.522764 0.5745 0.5768 1 0 0 intronic intronic intronic RPL12 RPL12 ENSG00000197958 Na Na Na Na Na Na Het;A>G 1217;36|42 Het;A>G 937;31|36 Hom;A>G 2236;0|73 N N - 9 130213110 130213110 G C snp intronic RPL12 Rpl12 ENSG00000197958 ribosomal protein L12 chr9:130209953-130213684 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;NAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RPL12 https://www.ncbi.nlm.nih.gov/omim/?term=180475 http://www.informatics.jax.org/searchtool/Search.do?query=RPL12&submit=Quick%0D%16767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL12 rs2247310 0.513778 0.5790 0.5566 1 0 0 intronic intronic intronic RPL12 RPL12 ENSG00000197958 Na Na Na Na Na Na Het;G>C 1852;85|84 Het;G>C 1605;68|74 Hom;G>C 4019;0|151 N N - 9 130213298 130213298 A G snp intronic RPL12 Rpl12 ENSG00000197958 ribosomal protein L12 chr9:130209953-130213684 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;NAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RPL12 https://www.ncbi.nlm.nih.gov/omim/?term=180475 http://www.informatics.jax.org/searchtool/Search.do?query=RPL12&submit=Quick%0D%16767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL12 rs2247303 0.560503 0 0 1 0 0 intronic intronic intronic RPL12 RPL12 ENSG00000197958 Na Na Na Na Na Na Het;A>G 433;12|13 Het;A>G 308;8|10 Hom;A>G 387;0|10 N N - 9 130213508 130213508 A G snp intronic RPL12 Rpl12 ENSG00000197958 ribosomal protein L12 chr9:130209953-130213684 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Cleft Lip|Cleft Palate; kidney aging Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000027;ribosomal large subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;NAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RPL12 https://www.ncbi.nlm.nih.gov/omim/?term=180475 http://www.informatics.jax.org/searchtool/Search.do?query=RPL12&submit=Quick%0D%16767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL12 rs2244624 0.561102 0.5899 0 1 0 0 intronic intronic intronic RPL12 RPL12 ENSG00000197958 Na Na Na Na Na Na Het;A>G 3333;126|149 Het;A>G 3140;141|148 Hom;A>G 5724;0|211 N N - 9 130219669 130219669 C T snp synonymous SNV C249T I83I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LRSAM1 Lrsam1 ENSG00000148356 leucine rich repeat and sterile alpha motif containing 1 chr9:130213765-130265780 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0007165;signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IMP|GO:0045806;negative regulation of endocytosis;IMP|GO:0046755;viral budding;IMP|GO:0051865;protein autoubiquitination;IDA|GO:0070086;ubiquitin-dependent endocytosis;IDA|GO:1904417;positive regulation of xenophagy;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRSAM1 https://www.uniprot.org/uniprot/Q6UWE0 https://hpo.jax.org/app/browse/search?q=LRSAM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610933 http://www.informatics.jax.org/searchtool/Search.do?query=LRSAM1&submit=Quick%0D%9108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRSAM1 rs2243906 0.557508 0.6055 0.5868 1 0 0 exonic exonic exonic LRSAM1 LRSAM1 ENSG00000148356 synonymous SNV synonymous SNV unknown LRSAM1:NM_138361:exon5:c.C249T:p.I83I,LRSAM1:NM_001005374:exon5:c.C249T:p.I83I,LRSAM1:NM_001190723:exon6:c.C249T:p.I83I,LRSAM1:NM_001005373:exon6:c.C249T:p.I83I, LRSAM1:uc010mxk.2:exon6:c.C249T:p.I83I,LRSAM1:uc004brb.2:exon6:c.C249T:p.I83I,LRSAM1:uc004brd.2:exon5:c.C249T:p.I83I,LRSAM1:uc004brc.3:exon5:c.C249T:p.I83I, UNKNOWN Het;C>T 1908;117|93 Het;C>T 1310;83|62 Hom;C>T 4428;0|164 N N - 9 130219743 130219743 T C snp intronic LRSAM1 Lrsam1 ENSG00000148356 leucine rich repeat and sterile alpha motif containing 1 chr9:130213765-130265780 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0007165;signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IMP|GO:0045806;negative regulation of endocytosis;IMP|GO:0046755;viral budding;IMP|GO:0051865;protein autoubiquitination;IDA|GO:0070086;ubiquitin-dependent endocytosis;IDA|GO:1904417;positive regulation of xenophagy;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRSAM1 https://www.uniprot.org/uniprot/Q6UWE0 https://hpo.jax.org/app/browse/search?q=LRSAM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610933 http://www.informatics.jax.org/searchtool/Search.do?query=LRSAM1&submit=Quick%0D%9108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRSAM1 rs2243903 0.560703 0 0 1 0 0 intronic intronic intronic LRSAM1 LRSAM1 ENSG00000148356 Na Na Na Na Na Na Het;T>C 890;27|28 Het;T>C 451;22|15 Hom;T>C 1577;0|46 N N - 9 130241822 130241822 T C snp intronic LRSAM1 Lrsam1 ENSG00000148356 leucine rich repeat and sterile alpha motif containing 1 chr9:130213765-130265780 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0007165;signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IMP|GO:0045806;negative regulation of endocytosis;IMP|GO:0046755;viral budding;IMP|GO:0051865;protein autoubiquitination;IDA|GO:0070086;ubiquitin-dependent endocytosis;IDA|GO:1904417;positive regulation of xenophagy;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRSAM1 https://www.uniprot.org/uniprot/Q6UWE0 https://hpo.jax.org/app/browse/search?q=LRSAM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610933 http://www.informatics.jax.org/searchtool/Search.do?query=LRSAM1&submit=Quick%0D%9108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRSAM1 rs1539569 0.727835 0.7418 0.7783 1 0 0 intronic intronic intronic LRSAM1 LRSAM1 ENSG00000148356 Na Na Na Na Na Na Het;T>C 353;25|14 Het;T>C 191;7|8 Hom;T>C 605;2|26 N N - 9 130242166 130242166 A G snp nonsynonymous SNV A952G N318D polar,hydrophilic,neutral polar,hydrophilic,charged(-) LRSAM1 Lrsam1 ENSG00000148356 leucine rich repeat and sterile alpha motif containing 1 chr9:130213765-130265780 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0007165;signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IMP|GO:0045806;negative regulation of endocytosis;IMP|GO:0046755;viral budding;IMP|GO:0051865;protein autoubiquitination;IDA|GO:0070086;ubiquitin-dependent endocytosis;IDA|GO:1904417;positive regulation of xenophagy;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRSAM1 https://www.uniprot.org/uniprot/Q6UWE0 https://hpo.jax.org/app/browse/search?q=LRSAM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610933 http://www.informatics.jax.org/searchtool/Search.do?query=LRSAM1&submit=Quick%0D%9108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRSAM1 rs1539567 0.727236 0.7418 0.7776 0.15 2 13 exonic exonic exonic LRSAM1 LRSAM1 ENSG00000148356 nonsynonymous SNV nonsynonymous SNV unknown LRSAM1:NM_138361:exon13:c.A952G:p.N318D,LRSAM1:NM_001005374:exon13:c.A952G:p.N318D,LRSAM1:NM_001190723:exon14:c.A952G:p.N318D,LRSAM1:NM_001005373:exon14:c.A952G:p.N318D, LRSAM1:uc010mxk.2:exon14:c.A952G:p.N318D,LRSAM1:uc004brb.2:exon14:c.A952G:p.N318D,LRSAM1:uc004brd.2:exon13:c.A952G:p.N318D,LRSAM1:uc004brc.3:exon13:c.A952G:p.N318D, UNKNOWN Het;A>G 777;52|40 Het;A>G 785;35|35 Hom;A>G 1674;0|63 N N - 9 130259618 130259618 A C snp intronic LRSAM1 Lrsam1 ENSG00000148356 leucine rich repeat and sterile alpha motif containing 1 chr9:130213765-130265780 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IDA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0007165;signal transduction;IBA|GO:0015031;protein transport;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030163;protein catabolic process;IMP|GO:0045806;negative regulation of endocytosis;IMP|GO:0046755;viral budding;IMP|GO:0051865;protein autoubiquitination;IDA|GO:0070086;ubiquitin-dependent endocytosis;IDA|GO:1904417;positive regulation of xenophagy;IMP|GO:2000786;positive regulation of autophagosome assembly;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/LRSAM1 https://www.uniprot.org/uniprot/Q6UWE0 https://hpo.jax.org/app/browse/search?q=LRSAM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610933 http://www.informatics.jax.org/searchtool/Search.do?query=LRSAM1&submit=Quick%0D%9108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRSAM1 rs2248822 0.728834 0.7386 0.7744 1 0 0 intronic intronic intronic LRSAM1 LRSAM1 ENSG00000148356 Na Na Na Na Na Na Het;A>C 697;31|29 Het;A>C 352;30|19 Hom;A>C 1357;0|49 N N - 9 130269786 130269786 A G snp UTR3 *547T>C FAM129B Fam129b ENSG00000136830 family with sequence similarity 129 member B chr9:130267618-130341268 GO:0007411;axon guidance;ISS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016525;negative regulation of angiogenesis;ISS|GO:0030154;cell differentiation;ISS|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0032274;gonadotropin secretion;IEP|GO:0034337;RNA folding;IDA|GO:0040019;positive regulation of embryonic development;ISS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0044029;hypomethylation of CpG island;ISS|GO:0045746;negative regulation of Notch signaling pathway;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048743;positive regulation of skeletal muscle fiber development;ISS|GO:2000279;negative regulation of DNA biosynthetic process;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0070062;extracellular exosome;IDA GO:0003713;transcription coactivator activity;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAM129B https://www.uniprot.org/uniprot/Q96TA1 https://www.ncbi.nlm.nih.gov/omim/?term=614045 http://www.informatics.jax.org/searchtool/Search.do?query=FAM129B&submit=Quick%0D%7410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM129B rs2245051 0.622404 0 0 1 0 0 intronic UTR3 intronic FAM129B FAM129B(uc004brj.4:c.*547T>C) ENSG00000136830 Na Na Na Na Na Na Het;A>G 464;18|16 Het;A>G 670;12|25 Hom;A>G 955;0|30 N N - 9 130536717 130536717 G A snp nonsynonymous SNV C67T L23F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral SH2D3C Sh2d3c ENSG00000095370 SH2 domain containing 3C chr9:130500596-130541020 This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size. GO:0007254;JNK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SH2D3C https://www.uniprot.org/uniprot/Q8N5H7 https://www.ncbi.nlm.nih.gov/omim/?term=604722 http://www.informatics.jax.org/searchtool/Search.do?query=SH2D3C&submit=Quick%0D%2243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D3C rs10760500 0.536342 0.4628 0.5627 0.31 4 13 exonic exonic exonic SH2D3C SH2D3C ENSG00000095370 nonsynonymous SNV nonsynonymous SNV unknown SH2D3C:NM_170600:exon2:c.C67T:p.L23F, SH2D3C:uc004bsc.3:exon2:c.C67T:p.L23F, UNKNOWN Het;G>A 1758;76|76 Ref Hom;G>A 3645;0|134 N N - 9 130611379 130611379 G T snp intronic ENG Eng ENSG00000106991 endoglin chr9:130577291-130617035 This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] Hypertension, Pulmonary; intracranial aneurysm; bladder cancer; hypertension; Intracranial Aneurysm|Stroke; hemorrhagic telangiectasia, hereditary; Pre-Eclampsia; hereditary hemorrhagic telangiectasia; lung cancer; cerebral arteriopathy; Kidney Failure, Chronic; chronic obstructive pulmonary disease; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Hepatopulmonary Syndrome|Liver Cirrhosis; Congenital Heart Defects|Heart Defects, Congenital; subarachnoid hemorrhage; stroke; brain hemorrhage; brain aneurysm; Arteriovenous Malformations|Liver Diseases|Telangiectasia, Hereditary Hemorrhagic; lung cancer ; Intracranial Aneurysm; Stroke; aneurysm, intracranial; arteriovenous dysplasias brain hemorrhage; Blood Pressure; null; Type 2 Diabetes| edema | rosiglitazone; pulmonary arterial hypertension sclerosis, systemic; Telangiectasia, Hereditary Hemorrhagic Homozygotes for targeted null mutations show defective vascular development, extra-arterial hematopoiesis, cardiac defects and die by embryonic day 11.0. Heterozygotes develop hemorrhagic telangiectasia causing strokes, fatal hemorrhage and heart failure. GO:0001300;chronological cell aging;IEA|GO:0001525;angiogenesis;IEA|GO:0001569;branching involved in blood vessel morphogenesis;ISS|GO:0001570;vasculogenesis;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001947;heart looping;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0003203;endocardial cushion morphogenesis;ISS|GO:0003208;cardiac ventricle morphogenesis;ISS|GO:0003209;cardiac atrium morphogenesis;ISS|GO:0003222;ventricular trabecula myocardium morphogenesis;ISS|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0022009;central nervous system vasculogenesis;IMP|GO:0030336;negative regulation of cell migration;IDA|GO:0030509;BMP signaling pathway;TAS|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0031953;negative regulation of protein autophosphorylation;IDA|GO:0031960;response to corticosteroid;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0035912;dorsal aorta morphogenesis;ISS|GO:0042493;response to drug;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048745;smooth muscle tissue development;ISS|GO:0048844;artery morphogenesis;ISS|GO:0048845;venous blood vessel morphogenesis;ISS|GO:0055009;atrial cardiac muscle tissue morphogenesis;ISS|GO:0060348;bone development;IEA|GO:0070278;extracellular matrix constituent secretion;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071559;response to transforming growth factor beta;IEA|GO:0097084;vascular smooth muscle cell development;ISS|GO:1905007;positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:1905065;positive regulation of vascular smooth muscle cell differentiation;ISS|GO:1905222;atrioventricular canal morphogenesis;ISS GO:0005615;extracellular space;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IPI|GO:0070022;transforming growth factor beta receptor complex;IC|GO:0072563;endothelial microparticle;IEA GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005072;transforming growth factor beta receptor, cytoplasmic mediator activity;IDA|GO:0005114;type II transforming growth factor beta receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005534;galactose binding;IDA|GO:0005539;glycosaminoglycan binding;IDA|GO:0034713;type I transforming growth factor beta receptor binding;IPI|GO:0036122;BMP binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0048185;activin binding;TAS|GO:0050431;transforming growth factor beta binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ENG https://www.uniprot.org/uniprot/P17813 https://hpo.jax.org/app/browse/search?q=ENG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=131195 http://www.informatics.jax.org/searchtool/Search.do?query=ENG&submit=Quick%0D%3566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENG rs10760507 0.704872 0 0 1 0 0 intronic intronic intronic ENG ENG ENSG00000106991 Na Na Na Na Na Na Het;G>T 47;4|4 Ref Hom;G>T 62;0|3 N N - 9 130630233 130630233 G T snp ncRNA_exonic AL157935.2 rs4226 0.681709 0.6818 0 1 0 0 UTR3 UTR3 ncRNA_exonic AK1(NM_000476:c.*54C>A) AK1(uc004bsm.4:c.*54C>A) ENSG00000257524 Na Na Na Na Na Na Het;G>T 662;36|30 Het;G>T 625;26|30 Hom;G>T 1996;0|75 N N - 9 130870023 130870023 C T snp UTR3 *300C>T SLC25A25 Slc25a25 ENSG00000148339 solute carrier family 25 member 25 chr9:130830480-130871524 The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012] Acquired Immunodeficiency Syndrome|Disease Progression; Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit reduced physical endurance and metabolic efficiency. GO:0002021;response to dietary excess;IEA|GO:0006810;transport;IEA|GO:0006839;mitochondrial transport;IBA|GO:0014823;response to activity;IEA|GO:0015866;ADP transport;IEA|GO:0015867;ATP transport;IEA|GO:0032094;response to food;IEA|GO:0035264;multicellular organism growth;IEA|GO:0043010;camera-type eye development;IEA|GO:0045333;cellular respiration;IEA|GO:0046034;ATP metabolic process;IEA|GO:0055085;transmembrane transport;IEA|GO:0060612;adipose tissue development;IEA|GO:0070588;calcium ion transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005347;ATP transmembrane transporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0015217;ADP transmembrane transporter activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC25A25 https://www.uniprot.org/uniprot/Q6KCM7 https://www.ncbi.nlm.nih.gov/omim/?term=608745 http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A25&submit=Quick%0D%9103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A25 rs7872702 0.666933 0 0 1 0 0 UTR3 UTR3 UTR3 SLC25A25(NM_001006641:c.*300C>T,NM_001265614:c.*300C>T,NM_001006642:c.*300C>T,NM_052901:c.*300C>T) SLC25A25(uc004btb.4:c.*300C>T,uc004btd.4:c.*300C>T,uc004btc.4:c.*300C>T,uc004bte.4:c.*300C>T,uc004btf.4:c.*300C>T) ENSG00000148339(ENST00000373068:c.*300C>T,ENST00000373069:c.*300C>T,ENST00000432073:c.*300C>T,ENST00000373066:c.*300C>T,ENST00000373064:c.*300C>T,ENST00000433501:c.*300C>T) Na Na Na Na Na Na Het;C>T 1649;99|72 Het;C>T 1570;94|74 Hom;C>T 3889;0|140 N N - 9 130873428 130873428 A G snp downstream SLC25A25-AS1 rs4837240 0.673123 0 0 1 0 0 downstream downstream downstream SLC25A25-AS1 LOC100289019 ENSG00000234771 Na Na Na Na Na Na Het;A>G 789;18|25 Het;A>G 275;15|9 Hom;A>G 765;0|24 N N - 9 130873635 130873635 G A snp ncRNA_exonic SLC25A25-AS1 rs6478816 0.674121 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SLC25A25-AS1 LOC100289019 ENSG00000234771 Na Na Na Na Na Na Het;G>A 1158;49|47 Het;G>A 1034;63|48 Hom;G>A 2698;0|99 N N - 9 130873907 130873908 GA G indel ncRNA_exonic SLC25A25-AS1 rs11367893 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SLC25A25-AS1 LOC100289019 ENSG00000234771 Na Na Na Na Na Na Het;-A 211;34|22 Het;-A 159;33|15 Hom;-A 666;3|36 N N - 9 130880829 130880829 G A snp ncRNA_exonic SLC25A25-AS1 rs10987883 0.804113 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SLC25A25-AS1 LOC100289019 ENSG00000234771 Na Na Na Na Na Na Het;G>A 929;49|39 Het;G>A 772;46|35 Hom;G>A 2493;0|85 N N - 9 130880995 130880995 G A snp ncRNA_exonic SLC25A25-AS1 rs35361220 0.80012 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SLC25A25-AS1 LOC100289019 ENSG00000234771 Na Na Na Na Na Na Het;G>A 519;21|26 Het;G>A 161;17|9 Hom;G>A 1253;0|42 N N - 9 130885529 130885530 CT C indel intronic PTGES2 Ptges2 ENSG00000148334 prostaglandin E synthase 2 chr9:130882972-130890741 The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009] Diabetes mellitus type II|Diabetes Mellitus, Type 2|Metabolic Syndrome X; Acquired Immunodeficiency Syndrome|Disease Progression; Diabetes Mellitus, Type 2|; diabetes, type 2; patent ductus arteriosus; epithelial ovarian cancer Mice homozygous for a knock-out allele exhibit normal basal prostaglandin E2 (PGE2) protein levels in the lactating mammary gland. Mice homozygous for a different knock-out allele exhibit increased sensitivity to IgE antigen-dependent passive cutaneous anaphylaxis. Neutrophil degranulation GO:0001516;prostaglandin biosynthetic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0019371;cyclooxygenase pathway;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046903;secretion;IEA|GO:0055114;oxidation-reduction process;IEA GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;IEA|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0016829;lyase activity;ISS|GO:0016853;isomerase activity;IEA|GO:0020037;heme binding;ISS|GO:0043295;glutathione binding;ISS|GO:0050220;prostaglandin-E synthase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PTGES2 https://www.uniprot.org/uniprot/Q9H7Z7 https://www.ncbi.nlm.nih.gov/omim/?term=608152 http://www.informatics.jax.org/searchtool/Search.do?query=PTGES2&submit=Quick%0D%9100ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGES2 rs35821438 0.675319 0 0 1 0 0 intronic intronic intronic PTGES2 PTGES2 ENSG00000148334 Na Na Na Na Na Na Het;-T 219;22|19 Het;-T 187;10|15 Hom;-T 377;2|20 N N - 9 130940121 130940121 G A snp intronic CIZ1 Ciz1 ENSG00000148337 CDKN1A interacting zinc finger protein 1 chr9:130928343-130966662 The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes. GO:0032298;positive regulation of DNA-dependent DNA replication initiation;IEA|GO:0051457;maintenance of protein location in nucleus;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030332;cyclin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CIZ1 https://www.uniprot.org/uniprot/Q9ULV3 https://hpo.jax.org/app/browse/search?q=CIZ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611420 http://www.informatics.jax.org/searchtool/Search.do?query=CIZ1&submit=Quick%0D%9102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CIZ1 rs4075428 0.827875 0 0 1 0 0 intronic intronic intronic CIZ1 CIZ1 ENSG00000148337 Na Na Na Na Na Na Het;G>A 452;8|17 Het;G>A 108;10|7 Hom;G>A 553;0|20 N N - 9 130940822 130940822 C T snp intronic CIZ1 Ciz1 ENSG00000148337 CDKN1A interacting zinc finger protein 1 chr9:130928343-130966662 The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes. GO:0032298;positive regulation of DNA-dependent DNA replication initiation;IEA|GO:0051457;maintenance of protein location in nucleus;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030332;cyclin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CIZ1 https://www.uniprot.org/uniprot/Q9ULV3 https://hpo.jax.org/app/browse/search?q=CIZ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611420 http://www.informatics.jax.org/searchtool/Search.do?query=CIZ1&submit=Quick%0D%9102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CIZ1 rs3892074 0.6873 0 0 1 0 0 intronic intronic intronic CIZ1 CIZ1 ENSG00000148337 Na Na Na Na Na Na Het;C>T 504;23|19 Het;C>T 490;19|21 Hom;C>T 1010;0|34 N N - 9 130942972 130942972 T C snp intronic CIZ1 Ciz1 ENSG00000148337 CDKN1A interacting zinc finger protein 1 chr9:130928343-130966662 The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes. GO:0032298;positive regulation of DNA-dependent DNA replication initiation;IEA|GO:0051457;maintenance of protein location in nucleus;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030332;cyclin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CIZ1 https://www.uniprot.org/uniprot/Q9ULV3 https://hpo.jax.org/app/browse/search?q=CIZ1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611420 http://www.informatics.jax.org/searchtool/Search.do?query=CIZ1&submit=Quick%0D%9102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CIZ1 rs45585631 0.692692 0.5900 0.6878 1 0 0 intronic intronic intronic CIZ1 CIZ1 ENSG00000148337 Na Na Na Na Na Na Het;T>C 497;28|23 Het;T>C 412;13|18 Hom;T>C 1002;0|34 N N - 9 131012256 131012256 T C snp intronic DNM1 Dnm1 ENSG00000106976 dynamin 1 chr9:130965658-131017527 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. Clathrin-mediated endocytosis GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IMP|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007032;endosome organization;IMP|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051262;protein tetramerization;IEA|GO:0051932;synaptic transmission, GABAergic;IEA|GO:0061025;membrane fusion;IBA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:1901998;toxin transport;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0030117;membrane coat;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM1 https://www.uniprot.org/uniprot/Q05193 https://hpo.jax.org/app/browse/search?q=DNM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602377 http://www.informatics.jax.org/searchtool/Search.do?query=DNM1&submit=Quick%0D%3565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM1 rs12343000 0.341653 0 0 1 0 0 intronic intronic intronic DNM1 DNM1 ENSG00000106976 Na Na Na Na Na Na Het;T>C 640;10|25 Ref Hom;T>C 862;0|30 N N - 9 131013914 131013914 A C snp intronic DNM1 Dnm1 ENSG00000106976 dynamin 1 chr9:130965658-131017527 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. Clathrin-mediated endocytosis GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IMP|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007032;endosome organization;IMP|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051262;protein tetramerization;IEA|GO:0051932;synaptic transmission, GABAergic;IEA|GO:0061025;membrane fusion;IBA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:1901998;toxin transport;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0030117;membrane coat;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM1 https://www.uniprot.org/uniprot/Q05193 https://hpo.jax.org/app/browse/search?q=DNM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602377 http://www.informatics.jax.org/searchtool/Search.do?query=DNM1&submit=Quick%0D%3565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM1 rs2016233 0.367812 0 0 1 0 0 intronic intronic intronic DNM1 DNM1 ENSG00000106976 Na Na Na Na Na Na Het;A>C 140;11|5 Ref Hom;A>C 178;0|5 N N - 9 131014426 131014426 C T snp intronic DNM1 Dnm1 ENSG00000106976 dynamin 1 chr9:130965658-131017527 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. Clathrin-mediated endocytosis GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IMP|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007032;endosome organization;IMP|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051262;protein tetramerization;IEA|GO:0051932;synaptic transmission, GABAergic;IEA|GO:0061025;membrane fusion;IBA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:1901998;toxin transport;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0030117;membrane coat;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM1 https://www.uniprot.org/uniprot/Q05193 https://hpo.jax.org/app/browse/search?q=DNM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602377 http://www.informatics.jax.org/searchtool/Search.do?query=DNM1&submit=Quick%0D%3565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM1 rs2267959 0.110623 0 0 1 0 0 intronic intronic intronic DNM1 DNM1 ENSG00000106976 Na Na Na Na Na Na Het;C>T 109;9|7 Ref Hom;C>T 316;0|12 N N - 9 131015329 131015329 G T snp intronic DNM1 Dnm1 ENSG00000106976 dynamin 1 chr9:130965658-131017527 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. Clathrin-mediated endocytosis GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IMP|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007032;endosome organization;IMP|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051262;protein tetramerization;IEA|GO:0051932;synaptic transmission, GABAergic;IEA|GO:0061025;membrane fusion;IBA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:1901998;toxin transport;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0030117;membrane coat;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM1 https://www.uniprot.org/uniprot/Q05193 https://hpo.jax.org/app/browse/search?q=DNM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602377 http://www.informatics.jax.org/searchtool/Search.do?query=DNM1&submit=Quick%0D%3565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM1 rs2267957 0.110024 0.0566 0.0896 1 0 0 intronic intronic intronic DNM1 DNM1 ENSG00000106976 Na Na Na Na Na Na Het;G>T 1780;76|76 Ref Hom;G>T 3306;0|121 N N - 9 131017745 131017745 T C snp downstream DNM1 Dnm1 ENSG00000106976 dynamin 1 chr9:130965658-131017527 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. Clathrin-mediated endocytosis GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IMP|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007032;endosome organization;IMP|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051262;protein tetramerization;IEA|GO:0051932;synaptic transmission, GABAergic;IEA|GO:0061025;membrane fusion;IBA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:1901998;toxin transport;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0030117;membrane coat;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM1 https://www.uniprot.org/uniprot/Q05193 https://hpo.jax.org/app/browse/search?q=DNM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602377 http://www.informatics.jax.org/searchtool/Search.do?query=DNM1&submit=Quick%0D%3565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM1 rs41276650 0.108826 0 0 1 0 0 downstream downstream downstream DNM1,GOLGA2 DNM1,GOLGA2 ENSG00000106976,ENSG00000167110 Na Na Na Na Na Na Het;T>C 179;12|9 Ref Hom;T>C 386;0|15 N N - 9 131017962 131017962 A G snp downstream DNM1 Dnm1 ENSG00000106976 dynamin 1 chr9:130965658-131017527 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Attention Deficit Disorder with Hyperactivity Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. Clathrin-mediated endocytosis GO:0000266;mitochondrial fission;IBA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006897;endocytosis;IMP|GO:0006898;receptor-mediated endocytosis;IMP|GO:0007032;endosome organization;IMP|GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0016185;synaptic vesicle budding from presynaptic endocytic zone membrane;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051262;protein tetramerization;IEA|GO:0051932;synaptic transmission, GABAergic;IEA|GO:0061025;membrane fusion;IBA|GO:0072583;clathrin-dependent endocytosis;IEA|GO:1901998;toxin transport;IEA GO:0001917;photoreceptor inner segment;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;TAS|GO:0030117;membrane coat;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM1 https://www.uniprot.org/uniprot/Q05193 https://hpo.jax.org/app/browse/search?q=DNM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602377 http://www.informatics.jax.org/searchtool/Search.do?query=DNM1&submit=Quick%0D%3565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM1 rs7023913 0.499201 0 0 1 0 0 downstream downstream downstream DNM1,GOLGA2 DNM1,GOLGA2 ENSG00000106976,ENSG00000167110 Na Na Na Na Na Na Het;A>G 78;7|5 Ref Hom;A>G 199;0|7 N N - 9 131018683 131018683 C G snp UTR3 *663G>C GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs2006280 0.108626 0 0 1 0 0 UTR3 UTR3 UTR3 GOLGA2(NM_004486:c.*663G>C) GOLGA2(uc011maw.2:c.*663G>C,uc010mxw.3:c.*663G>C) ENSG00000167110(ENST00000421699:c.*663G>C) Na Na Na Na Na Na Het;C>G 312;13|13 Ref Hom;C>G 742;0|29 N N - 9 131019738 131019738 T C snp nonsynonymous SNV A2704G R902G polar,hydrophilic,charged(+) aliphatic,neutral GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs2240961 0.163738 0.1144 0.1058 0.69 9 13 exonic exonic exonic GOLGA2 GOLGA2 ENSG00000167110 nonsynonymous SNV nonsynonymous SNV unknown GOLGA2:NM_004486:exon25:c.A2704G:p.R902G, GOLGA2:uc011maw.2:exon25:c.A2704G:p.R902G,GOLGA2:uc010mxw.3:exon7:c.A673G:p.R225G, UNKNOWN Het;T>C 1539;53|61 Ref Hom;T>C 2410;0|84 N N - 9 131020795 131020798 GCCT G indel nonframeshift substitution 2144_2147C GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs112603354 0.26278 0.2311 0.1551 1 0 0 exonic exonic exonic GOLGA2 GOLGA2 ENSG00000167110 nonframeshift substitution nonframeshift substitution unknown GOLGA2:NM_004486:exon21:c.2144_2147C, GOLGA2:uc011maw.2:exon21:c.2144_2147C,GOLGA2:uc004buh.3:exon5:c.563_566C, UNKNOWN Het;-CCT 842;15|22 Ref Hom;-CCT 1044;0|24 N N - 9 131023105 131023105 A G snp intronic GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs12347709 0.110623 0.0439 0.1145 1 0 0 intronic intronic intronic GOLGA2 GOLGA2 ENSG00000167110 Na Na Na Na Na Na Het;A>G 516;24|21 Ref Hom;A>G 1493;0|51 N N - 9 131023141 131023141 C T snp intronic GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs12338625 0.109425 0 0 1 0 0 intronic intronic intronic GOLGA2 GOLGA2 ENSG00000167110 Na Na Na Na Na Na Het;C>T 336;13|14 Ref Hom;C>T 759;0|25 N N - 9 131027963 131027963 A G snp synonymous SNV T753C S251S polar,hydrophilic,neutral polar,hydrophilic,neutral GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs12335848 0.116613 0.0510 0.0948 1 0 0 exonic exonic exonic GOLGA2 GOLGA2 ENSG00000167110 synonymous SNV synonymous SNV unknown GOLGA2:NM_004486:exon11:c.T753C:p.S251S, GOLGA2:uc011maw.2:exon11:c.T753C:p.S251S,GOLGA2:uc004bum.1:exon8:c.T375C:p.S125S,GOLGA2:uc004bul.1:exon11:c.T456C:p.S152S, UNKNOWN Het;A>G 1917;74|85 Ref Hom;A>G 3970;0|143 N N - 9 131028226 131028226 G A snp intronic GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs12345218 0.117412 0.0519 0.0932 1 0 0 intronic intronic intronic GOLGA2 GOLGA2 ENSG00000167110 Na Na Na Na Na Na Het;G>A 701;38|28 Ref Hom;G>A 1186;0|37 N N - 9 131037910 131037910 G T snp intronic GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs7034524 0.169129 0 0 1 0 0 intronic intronic intronic GOLGA2 GOLGA2 ENSG00000167110,ENSG00000175854 Na Na Na Na Na Na Het;G>T 427;23|20 Ref Hom;G>T 837;3|33 N N - 9 131038401 131038401 T A snp upstream GOLGA2 Golga2 ENSG00000167110 golgin A2 chr9:131018108-131038274 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] Mice homozygous for a null allele display lethality before postnatal day 35, impaired postnatal growth, loss of Purkinje cells, and Golgi apparatus defects. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006486;protein glycosylation;IMP|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007020;microtubule nucleation;IDA|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IDA|GO:0008356;asymmetric cell division;ISS|GO:0010507;negative regulation of autophagy;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0048208;COPII vesicle coating;TAS|GO:0051225;spindle assembly;IMP|GO:0051289;protein homotetramerization;ISS|GO:0051301;cell division;IEA|GO:0060050;positive regulation of protein glycosylation;IMP|GO:0090161;Golgi ribbon formation;IMP|GO:0090166;Golgi disassembly;ISS|GO:0090306;spindle assembly involved in meiosis;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0000137;Golgi cis cisterna;IDA|GO:0000139;Golgi membrane;TAS|GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;TAS|GO:0005801;cis-Golgi network;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IEA|GO:0030134;ER to Golgi transport vesicle;IMP|GO:0032580;Golgi cisterna membrane;ISS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0019905;syntaxin binding;IPI|GO:0045296;cadherin binding;IDA|GO:0061676;importin-alpha family protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GOLGA2 https://www.ncbi.nlm.nih.gov/omim/?term=602580 http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA2&submit=Quick%0D%11951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA2 rs16930333 0.169329 0.0890 0.1130 1 0 0 upstream upstream intronic GOLGA2,SWI5 GOLGA2,SWI5 ENSG00000175854 Na Na Na Na Na Na Het;T>A 405;13|18 Ref Hom;T>A 896;0|32 N N - 9 13125130 13125130 T C snp intronic MPDZ Mpdz ENSG00000107186 multiple PDZ domain crumbs cell polarity complex component chr9:13105703-13279589 The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] alcohol consumption; Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal|; Body Height; Type 2 Diabetes| edema | rosiglitazone; Varicose Veins Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls. GO:0007155;cell adhesion;IEA|GO:0016032;viral process;IEA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPDZ https://www.uniprot.org/uniprot/O75970 https://hpo.jax.org/app/browse/search?q=MPDZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603785 http://www.informatics.jax.org/searchtool/Search.do?query=MPDZ&submit=Quick%0D%3586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPDZ rs3818595 0.556909 0 0 1 0 0 intronic intronic intronic MPDZ MPDZ ENSG00000107186 Na Na Na Na Na Na Het;T>C 520;20|20 Het;T>C 736;20|28 Hom;T>C 1229;0|41 N N - 9 13125201 13125201 T C snp intronic MPDZ Mpdz ENSG00000107186 multiple PDZ domain crumbs cell polarity complex component chr9:13105703-13279589 The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] alcohol consumption; Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal|; Body Height; Type 2 Diabetes| edema | rosiglitazone; Varicose Veins Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls. GO:0007155;cell adhesion;IEA|GO:0016032;viral process;IEA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPDZ https://www.uniprot.org/uniprot/O75970 https://hpo.jax.org/app/browse/search?q=MPDZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603785 http://www.informatics.jax.org/searchtool/Search.do?query=MPDZ&submit=Quick%0D%3586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPDZ rs2297003 0.556909 0.6157 0.6647 1 0 0 intronic intronic intronic MPDZ MPDZ ENSG00000107186 Na Na Na Na Na Na Het;T>C 1087;65|48 Het;T>C 1209;58|54 Hom;T>C 2869;0|102 N N - 9 13126470 13126470 C G snp intronic MPDZ Mpdz ENSG00000107186 multiple PDZ domain crumbs cell polarity complex component chr9:13105703-13279589 The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] alcohol consumption; Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal|; Body Height; Type 2 Diabetes| edema | rosiglitazone; Varicose Veins Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls. GO:0007155;cell adhesion;IEA|GO:0016032;viral process;IEA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPDZ https://www.uniprot.org/uniprot/O75970 https://hpo.jax.org/app/browse/search?q=MPDZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603785 http://www.informatics.jax.org/searchtool/Search.do?query=MPDZ&submit=Quick%0D%3586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPDZ rs10738323 0.492013 0.5970 0.6004 1 0 0 intronic intronic intronic MPDZ MPDZ ENSG00000107186 Na Na Na Na Na Na Het;C>G 159;5|6 Het;C>G 176;6|8 Hom;C>G 412;0|13 N N - 9 131456385 131456385 G GTA indel intronic SET Set ENSG00000119335 SET nuclear proto-oncogene chr9:131445703-131458679 The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Cleft Lip|Cleft Palate; Macular Degeneration Mice homozygous for a null mutation display complete lethality during organogenesis with reduced embryo size, cardiac edema and an open neural tube. HuR (ELAVL1) binds and stabilizes mRNA GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0006337;nucleosome disassembly;TAS|GO:0006913;nucleocytoplasmic transport;NAS|GO:0016032;viral process;IEA|GO:0035067;negative regulation of histone acetylation;TAS|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043488;regulation of mRNA stability;TAS|GO:0043524;negative regulation of neuron apoptotic process;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0050790;regulation of catalytic activity;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IEA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003677;DNA binding;IEA|GO:0004864;protein phosphatase inhibitor activity;TAS|GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;TAS|GO:0042393;histone binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SET https://www.uniprot.org/uniprot/Q01105 https://hpo.jax.org/app/browse/search?q=SET&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600960 http://www.informatics.jax.org/searchtool/Search.do?query=SET&submit=Quick%0D%5051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SET rs10637043 0 0 0 1 0 0 intronic intronic intronic SET SET ENSG00000119335 Na Na Na Na Na Na Het;+TA 122;3|5 Het;+TA 142;1|6 Hom;+TA 216;0|7 N N - 9 13175715 13175718 TGAG T indel intronic MPDZ Mpdz ENSG00000107186 multiple PDZ domain crumbs cell polarity complex component chr9:13105703-13279589 The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] alcohol consumption; Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal|; Body Height; Type 2 Diabetes| edema | rosiglitazone; Varicose Veins Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls. GO:0007155;cell adhesion;IEA|GO:0016032;viral process;IEA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPDZ https://www.uniprot.org/uniprot/O75970 https://hpo.jax.org/app/browse/search?q=MPDZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603785 http://www.informatics.jax.org/searchtool/Search.do?query=MPDZ&submit=Quick%0D%3586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPDZ rs3831219 0.448882 0.5172 0.5752 1 0 0 intronic intronic intronic MPDZ MPDZ ENSG00000107186 Na Na Na Na Na Na Het;-GAG 494;5|13 Het;-GAG 386;13|11 Hom;-GAG 1211;0|28 N N - 9 131846774 131846774 G A snp intronic DOLPP1 Dolpp1 ENSG00000167130 dolichyldiphosphatase 1 chr9:131843379-131852717 A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] Synthesis of Dolichyl-phosphate GO:0006486;protein glycosylation;IEA|GO:0006487;protein N-linked glycosylation;ISS|GO:0006489;dolichyl diphosphate biosynthetic process;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS GO:0016787;hydrolase activity;IEA|GO:0047874;dolichyldiphosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DOLPP1 https://www.ncbi.nlm.nih.gov/omim/?term=614516 http://www.informatics.jax.org/searchtool/Search.do?query=DOLPP1&submit=Quick%0D%11957ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOLPP1 rs10988199 0.369609 0 0 1 0 0 intronic intronic intronic DOLPP1 DOLPP1 ENSG00000167130 Na Na Na Na Na Na Het;G>A 200;6|7 Ref Hom;G>A 197;0|6 N N - 9 131846957 131846957 T C snp synonymous SNV T87C S29S polar,hydrophilic,neutral polar,hydrophilic,neutral DOLPP1 Dolpp1 ENSG00000167130 dolichyldiphosphatase 1 chr9:131843379-131852717 A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] Synthesis of Dolichyl-phosphate GO:0006486;protein glycosylation;IEA|GO:0006487;protein N-linked glycosylation;ISS|GO:0006489;dolichyl diphosphate biosynthetic process;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS GO:0016787;hydrolase activity;IEA|GO:0047874;dolichyldiphosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DOLPP1 https://www.ncbi.nlm.nih.gov/omim/?term=614516 http://www.informatics.jax.org/searchtool/Search.do?query=DOLPP1&submit=Quick%0D%11957ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOLPP1 rs11541836 0.365415 0.4503 0.5223 1 0 0 exonic exonic exonic DOLPP1 DOLPP1 ENSG00000167130 synonymous SNV synonymous SNV unknown DOLPP1:NM_001135917:exon2:c.T87C:p.S29S,DOLPP1:NM_020438:exon2:c.T87C:p.S29S, DOLPP1:uc004bxc.3:exon2:c.T87C:p.S29S,DOLPP1:uc004bxd.3:exon2:c.T87C:p.S29S, UNKNOWN Het;T>C 1207;63|49 Ref Hom;T>C 3534;2|126 N N - 9 131904617 131904617 T TTG indel intronic PPP2R4 Ppp2r4 rs111439548 0 0 0 1 0 0 intronic intronic intronic PPP2R4 PPP2R4 ENSG00000119383 Na Na Na Na Na Na Het;+TG 705;3|22 Het;+TG 189;12|8 Hom;+TG 392;1|13 N N - 9 132109628 132109628 G A snp ncRNA_exonic LINC01503 rs4837360 0.420128 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01503 BC094873(dist=2719),LOC100506190(dist=136102) ENSG00000233901 Na Na Na Na Na Na Het;G>A 620;19|27 Het;G>A 302;10|14 Hom;G>A 1047;0|39 N N - 9 132575836 132575837 AC A indel UTR3 *415_*414delinsT TOR1A Tor1a ENSG00000136827 torsin family 1 member A chr9:132575223-132586413 The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] null; Coronary Artery Disease; dystonia, torsion; Blepharospasm|Dystonia|Dystonic Disorders|Torticollis; primary blepharospasm; Dystonic Disorders|; idiopathic torsion dystonia; brain lesions or calcifications; dystonia, primary; dystonia; Dystonia; dystonia, early onset primary; dystonia, focal; Dystonia|; Parkinson's disease ; dystonia, primary torsion; Dystonic Disorders Mice homozygous for disruptions in this gene die either embryonically or very soon after birth. Heterozygous males display hyperactivity and coordination difficulties. Cargo recognition for clathrin-mediated endocytosis GO:0000338;protein deneddylation;IMP|GO:0006979;response to oxidative stress;IEA|GO:0006996;organelle organization;IEA|GO:0006998;nuclear envelope organization;IEA|GO:0007155;cell adhesion;IMP|GO:0031175;neuron projection development;IMP|GO:0034504;protein localization to nucleus;IEA|GO:0044319;wound healing, spreading of cells;IEA|GO:0045104;intermediate filament cytoskeleton organization;IMP|GO:0048489;synaptic vesicle transport;IMP|GO:0051085;chaperone mediated protein folding requiring cofactor;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051584;regulation of dopamine uptake involved in synaptic transmission;IDA|GO:0061077;chaperone-mediated protein folding;IDA|GO:0071712;ER-associated misfolded protein catabolic process;IEA|GO:0071763;nuclear membrane organization;IEA|GO:0072321;chaperone-mediated protein transport;IDA|GO:1900244;positive regulation of synaptic vesicle endocytosis;IMP|GO:2000008;regulation of protein localization to cell surface;IMP GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030133;transport vesicle;IEA|GO:0030141;secretory granule;IEA|GO:0030426;growth cone;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008092;cytoskeletal protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0019894;kinesin binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0051787;misfolded protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOR1A https://www.uniprot.org/uniprot/O14656 https://hpo.jax.org/app/browse/search?q=TOR1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605204 http://www.informatics.jax.org/searchtool/Search.do?query=TOR1A&submit=Quick%0D%7408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOR1A rs35153737 0.134185 0 0 1 0 0 UTR3 UTR3 UTR3 TOR1A(NM_000113:c.*415_*414delinsT) TOR1A(uc004byl.3:c.*415_*414delinsT) ENSG00000136827(ENST00000351698:c.*415_*414delinsT) Na Na Na Na Na Na Het;-C 1474;14|70 Het;-C 721;5|35 Hom;-C 1187;4|53 N N - 9 132590352 132590352 A G snp UTR3 *88T>C C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs1806988 0.237819 0 0 1 0 0 UTR3 UTR3 UTR3 C9orf78(NM_016520:c.*88T>C) C9orf78(uc004byo.3:c.*102T>C,uc004byp.3:c.*88T>C) ENSG00000136819(ENST00000372447:c.*88T>C) Na Na Na Na Na Na Het;A>G 468;13|13 Ref Hom;A>G 332;0|8 N N - 9 132590353 132590353 G T snp UTR3 *87C>A C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs1806989 0.237819 0 0 1 0 0 UTR3 UTR3 UTR3 C9orf78(NM_016520:c.*87C>A) C9orf78(uc004byo.3:c.*101C>A,uc004byp.3:c.*87C>A) ENSG00000136819(ENST00000372447:c.*87C>A) Na Na Na Na Na Na Het;G>T 468;13|13 Ref Hom;G>T 332;0|8 N N - 9 132590431 132590431 C G snp UTR3 *9G>C C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs732074 0.237819 0.2417 0.2414 1 0 0 UTR3 UTR3 UTR3 C9orf78(NM_016520:c.*9G>C) C9orf78(uc004byo.3:c.*23G>C,uc004byp.3:c.*9G>C) ENSG00000136819(ENST00000372447:c.*9G>C) Na Na Na Na Na Na Het;C>G 1118;68|50 Het;C>G 759;41|37 Hom;C>G 2145;0|75 N N - 9 132591425 132591425 C T snp stopgain G675A W225X aromatic,hydrophobic,neutral C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs7047271 0.226238 0 0.2998 1 0 0 intronic exonic intronic C9orf78 C9orf78 ENSG00000136819 Na stopgain Na Na C9orf78:uc004byq.1:exon5:c.G675A:p.W225X, Na Het;C>T 99;10|5 Het;C>T 66;5|3 Hom;C>T 126;0|4 N N - 9 132591509 132591509 A G snp synonymous SNV T753C G251G aliphatic,neutral aliphatic,neutral C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs3818553 0.23762 0.2414 0.2424 0.25 1 4 exonic exonic exonic C9orf78 C9orf78 ENSG00000136819 synonymous SNV synonymous SNV unknown C9orf78:NM_016520:exon8:c.T753C:p.G251G, C9orf78:uc004byp.3:exon8:c.T753C:p.G251G,C9orf78:uc004byq.1:exon5:c.T591C:p.G197G, UNKNOWN Het;A>G 605;26|31 Het;A>G 299;17|16 Hom;A>G 713;0|28 N N - 9 132591992 132591992 T C snp intronic C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs41278732 0.238019 0 0 1 0 0 intronic intronic intronic C9orf78 C9orf78 ENSG00000136819 Na Na Na Na Na Na Het;T>C 88;5|4 Het;T>C 135;3|6 Hom;T>C 222;0|7 N N - 9 132594378 132594378 A G snp intronic C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs2062799 0.232628 0 0 1 0 0 intronic intronic intronic C9orf78 C9orf78 ENSG00000136819 Na Na Na Na Na Na Het;A>G 137;1|4 Het;A>G 260;2|7 Hom;A>G 152;0|4 N N - 9 132595664 132595664 G A snp intronic C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs72755238 0.232628 0.2326 0 1 0 0 intronic intronic intronic C9orf78 C9orf78 ENSG00000136819 Na Na Na Na Na Na Het;G>A 556;22|22 Het;G>A 478;21|18 Hom;G>A 792;0|26 N N - 9 132595685 132595685 C G snp intronic C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs45507500 0.232628 0.2350 0.2404 1 0 0 intronic intronic intronic C9orf78 C9orf78 ENSG00000136819 Na Na Na Na Na Na Het;C>G 717;31|31 Het;C>G 675;27|29 Hom;C>G 1164;0|41 N N - 9 132596031 132596031 T C snp UTR5 -202A>G C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs2274507 0.154752 0.1589 0.2109 1 0 0 intronic UTR5 intronic C9orf78 C9orf78(uc004byq.1:c.-202A>G) ENSG00000136819 Na Na Na Na Na Na Het;T>C 117;16|6 Het;T>C 128;11|6 Hom;T>C 705;2|27 N N - 9 132596071 132596071 C T snp UTR5 -242G>A C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs2274508 0.232628 0 0 1 0 0 intronic UTR5 intronic C9orf78 C9orf78(uc004byq.1:c.-242G>A) ENSG00000136819 Na Na Na Na Na Na Het;C>T 43;3|3 Ref Hom;C>T 234;0|9 N N - 9 132596899 132596899 G A snp intronic C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs3814548 0.152756 0 0 1 0 0 intronic intronic intronic C9orf78 C9orf78 ENSG00000136819 Na Na Na Na Na Na Het;G>A 233;23|11 Het;G>A 190;19|12 Hom;G>A 772;2|30 N N - 9 132597021 132597021 C T snp synonymous SNV G108A E36E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs3814547 0.232827 0.2355 0.2402 1 0 0 exonic exonic exonic C9orf78 C9orf78 ENSG00000136819 synonymous SNV synonymous SNV unknown C9orf78:NM_016520:exon2:c.G108A:p.E36E, C9orf78:uc004byp.3:exon2:c.G108A:p.E36E, UNKNOWN Het;C>T 457;26|25 Het;C>T 211;27|14 Hom;C>T 922;0|33 N N - 9 132597621 132597621 T C snp upstream C9orf78 BC005624 ENSG00000136819 chromosome 9 open reading frame 78 chr9:132589569-132598142 GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf78 https://www.uniprot.org/uniprot/Q9NZ63 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf78&submit=Quick%0D%7406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf78 rs11790613 0.300519 0 0 1 0 0 upstream upstream upstream C9orf78,USP20 C9orf78,USP20 ENSG00000136819,ENSG00000136878 Na Na Na Na Na Na Het;T>C 947;15|27 Het;T>C 339;8|11 Hom;T>C 683;0|19 N N - 9 132625452 132625452 C G snp intronic USP20 Usp20 ENSG00000136878 ubiquitin specific peptidase 20 chr9:132596977-132644107 This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Ub-specific processing proteases GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006897;endocytosis;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0016579;protein deubiquitination;TAS|GO:0070536;protein K63-linked deubiquitination;IDA|GO:0071108;protein K48-linked deubiquitination;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001664;G-protein coupled receptor binding;IPI|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP20 https://www.uniprot.org/uniprot/Q9Y2K6 https://www.ncbi.nlm.nih.gov/omim/?term=615143 http://www.informatics.jax.org/searchtool/Search.do?query=USP20&submit=Quick%0D%7429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP20 rs35595055 0.0245607 0.0429 0.0444 1 0 0 intronic intronic intronic USP20 USP20 ENSG00000136878 Na Na Na Na Na Na Het;C>G 660;18|27 Het;C>G 315;25|17 Hom;C>G 1119;0|37 N N - 9 132637712 132637712 G A snp synonymous SNV G2172A A724A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral USP20 Usp20 ENSG00000136878 ubiquitin specific peptidase 20 chr9:132596977-132644107 This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Ub-specific processing proteases GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006897;endocytosis;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0016579;protein deubiquitination;TAS|GO:0070536;protein K63-linked deubiquitination;IDA|GO:0071108;protein K48-linked deubiquitination;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001664;G-protein coupled receptor binding;IPI|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP20 https://www.uniprot.org/uniprot/Q9Y2K6 https://www.ncbi.nlm.nih.gov/omim/?term=615143 http://www.informatics.jax.org/searchtool/Search.do?query=USP20&submit=Quick%0D%7429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP20 rs735115 0.207867 0.2752 0.3127 1 0 0 exonic exonic exonic USP20 USP20 ENSG00000136878 synonymous SNV synonymous SNV unknown USP20:NM_001110303:exon20:c.G2172A:p.A724A,USP20:NM_001008563:exon20:c.G2172A:p.A724A,USP20:NM_006676:exon20:c.G2172A:p.A724A, USP20:uc004byt.2:exon20:c.G2172A:p.A724A,USP20:uc004byr.3:exon20:c.G2172A:p.A724A,USP20:uc004bys.3:exon20:c.G2172A:p.A724A, UNKNOWN Het;G>A 1387;65|60 Het;G>A 1385;68|60 Hom;G>A 2755;0|97 N N - 9 132640726 132640726 T G snp intronic USP20 Usp20 ENSG00000136878 ubiquitin specific peptidase 20 chr9:132596977-132644107 This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension Ub-specific processing proteases GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006897;endocytosis;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0016579;protein deubiquitination;TAS|GO:0070536;protein K63-linked deubiquitination;IDA|GO:0071108;protein K48-linked deubiquitination;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0001664;G-protein coupled receptor binding;IPI|GO:0004197;cysteine-type endopeptidase activity;IMP|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USP20 https://www.uniprot.org/uniprot/Q9Y2K6 https://www.ncbi.nlm.nih.gov/omim/?term=615143 http://www.informatics.jax.org/searchtool/Search.do?query=USP20&submit=Quick%0D%7429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP20 rs2296788 0.212061 0 0.3769 1 0 0 intronic intronic intronic USP20 USP20 ENSG00000136878 Na Na Na Na Na Na Het;T>G 999;51|46 Het;T>G 561;32|27 Hom;T>G 2470;0|89 N N - 9 132841843 132841843 C T snp intronic GPR107 Gpr107 ENSG00000148358 G protein-coupled receptor 107 chr9:132815705-132902448 Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling. GO:0072583;clathrin-dependent endocytosis;IEA GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA GO:0032050;clathrin heavy chain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR107 https://www.uniprot.org/uniprot/Q5VW38 http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107 rs56026297 0.086262 0 0 1 0 0 intronic intronic intronic GPR107 GPR107 ENSG00000148358 Na Na Na Na Na Na Het;C>T 148;4|6 Het;C>T 152;14|7 Hom;C>T 307;0|9 N N - 9 132861672 132861672 G T snp intronic GPR107 Gpr107 ENSG00000148358 G protein-coupled receptor 107 chr9:132815705-132902448 Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling. GO:0072583;clathrin-dependent endocytosis;IEA GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA GO:0032050;clathrin heavy chain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR107 https://www.uniprot.org/uniprot/Q5VW38 http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107 rs2286792 0.086262 0 0 1 0 0 intronic intronic intronic GPR107 GPR107 ENSG00000148358 Na Na Na Na Na Na Het;G>T 219;19|11 Het;G>T 226;15|11 Hom;G>T 370;0|15 N N - 9 132887285 132887285 C G snp intronic GPR107 Gpr107 ENSG00000148358 G protein-coupled receptor 107 chr9:132815705-132902448 Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling. GO:0072583;clathrin-dependent endocytosis;IEA GO:0005654;nucleoplasm;IDA|GO:0005769;early endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA GO:0032050;clathrin heavy chain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR107 https://www.uniprot.org/uniprot/Q5VW38 http://www.informatics.jax.org/searchtool/Search.do?query=GPR107&submit=Quick%0D%9110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR107 rs72759148 0.0858626 0.0675 0.1075 1 0 0 intronic intronic intronic GPR107 GPR107 ENSG00000148358 Na Na Na Na Na Na Het;C>G 250;3|11 Ref Hom;C>G 247;0|9 N N - 9 132988709 132988709 T G snp synonymous SNV T516G G172G aliphatic,neutral aliphatic,neutral NCS1 Ncs1 ENSG00000107130 neuronal calcium sensor 1 chr9:132934857-132999583 This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] smoking behavior; Iron; Heart Failure; Bulimia GO:0010975;regulation of neuron projection development;ISS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045921;positive regulation of exocytosis;IEA|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0070588;calcium ion transmembrane transport;IEA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0031045;dense core granule;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000287;magnesium ion binding;IEA|GO:0005245;voltage-gated calcium channel activity;ISS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCS1 https://www.uniprot.org/uniprot/P62166 https://www.ncbi.nlm.nih.gov/omim/?term=603315 http://www.informatics.jax.org/searchtool/Search.do?query=NCS1&submit=Quick%0D%3578ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCS1 rs2277200 0.3127 0.3652 0.3265 1 0 0 exonic exonic exonic NCS1 NCS1 ENSG00000107130 synonymous SNV synonymous SNV unknown NCS1:NM_014286:exon7:c.T516G:p.G172G,NCS1:NM_001128826:exon7:c.T462G:p.G154G, NCS1:uc010myz.1:exon7:c.T462G:p.G154G,NCS1:uc004bzi.2:exon7:c.T516G:p.G172G, UNKNOWN Het;T>G 933;49|42 Het;T>G 1254;54|57 Hom;T>G 2233;0|81 N N - 9 13300367 13300367 A G snp intergenic MPDZ Mpdz ENSG00000107186 multiple PDZ domain crumbs cell polarity complex component chr9:13105703-13279589 The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] alcohol consumption; Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal|; Body Height; Type 2 Diabetes| edema | rosiglitazone; Varicose Veins Mutant heterozygous mice are more sensitive to ethanol withdrawal effects and consume less alcohol than controls. GO:0007155;cell adhesion;IEA|GO:0016032;viral process;IEA GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPDZ https://www.uniprot.org/uniprot/O75970 https://hpo.jax.org/app/browse/search?q=MPDZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603785 http://www.informatics.jax.org/searchtool/Search.do?query=MPDZ&submit=Quick%0D%3586ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPDZ rs10809933 0.428714 0 0 1 0 0 intergenic intergenic intergenic MPDZ(dist=20804),FLJ41200(dist=106012) MPDZ(dist=20804),FLJ41200(dist=106012) ENSG00000107186(dist=20778),ENSG00000223672(dist=22438) Na Na Na Na Na Na Het;A>G 596;38|31 Het;A>G 387;39|23 Hom;A>G 1744;0|66 N N - 9 133251986 133251986 T C snp unknown HMCN2 Hmcn2 ENSG00000148357 hemicentin 2 chr9:133046882-133309510 Tobacco Use Disorder GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN2 https://www.uniprot.org/uniprot/Q8NDA2 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2 rs11244043 0.651558 0 0 1 0 0 exonic intergenic intergenic HMCN2 NCS1(dist=252403),DKFZp434P0216(dist=9142) NONE(dist=NONE),ENSG00000148357(dist=7850) unknown Na Na UNKNOWN Na Na Het;T>C 836;55|44 Het;T>C 760;49|40 Hom;T>C 2374;0|87 N N - 9 133252904 133252904 C T snp intronic HMCN2 Hmcn2 ENSG00000148357 hemicentin 2 chr9:133046882-133309510 Tobacco Use Disorder GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN2 https://www.uniprot.org/uniprot/Q8NDA2 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2 rs7041063 0.644169 0 0 1 0 0 intronic intergenic intergenic HMCN2 NCS1(dist=253321),DKFZp434P0216(dist=8224) NONE(dist=NONE),ENSG00000148357(dist=6932) Na Na Na Na Na Na Het;C>T 566;7|17 Het;C>T 121;10|5 Hom;C>T 237;0|7 N N - 9 133252969 133252969 T C snp intronic HMCN2 Hmcn2 ENSG00000148357 hemicentin 2 chr9:133046882-133309510 Tobacco Use Disorder GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN2 https://www.uniprot.org/uniprot/Q8NDA2 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2 rs7020021 0.631789 0 0 1 0 0 intronic intergenic intergenic HMCN2 NCS1(dist=253386),DKFZp434P0216(dist=8159) NONE(dist=NONE),ENSG00000148357(dist=6867) Na Na Na Na Na Na Het;T>C 1184;28|48 Het;T>C 581;34|23 Hom;T>C 1378;0|43 N N - 9 133258835 133258835 T G snp intronic HMCN2 Hmcn2 ENSG00000148357 hemicentin 2 chr9:133046882-133309510 Tobacco Use Disorder GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN2 https://www.uniprot.org/uniprot/Q8NDA2 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2 rs4740200 0.628994 0 0 1 0 0 intronic intergenic intergenic HMCN2 NCS1(dist=259252),DKFZp434P0216(dist=2293) NONE(dist=NONE),ENSG00000148357(dist=1001) Na Na Na Na Na Na Het;T>G 398;15|17 Het;T>G 668;24|27 Hom;T>G 1155;0|39 N N - 9 133279395 133279395 T C snp intronic HMCN2 Hmcn2 ENSG00000148357 hemicentin 2 chr9:133046882-133309510 Tobacco Use Disorder GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN2 https://www.uniprot.org/uniprot/Q8NDA2 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2 rs10901300 0.631989 0 0 1 0 0 intronic intronic intronic HMCN2 DKFZp434P0216 ENSG00000215428 Na Na Na Na Na Na Het;T>C 633;24|22 Het;T>C 264;20|10 Hom;T>C 862;0|25 N N - 9 133283255 133283255 A G snp downstream ENSG00000215428 rs10736862 0.636781 0 0 1 0 0 intronic intronic downstream HMCN2 DKFZp434P0216 ENSG00000215428 Na Na Na Na Na Na Het;A>G 354;7|11 Het;A>G 190;3|7 Hom;A>G 422;0|12 N N - 9 133284310 133284310 G A snp nonsynonymous SNV G2465A R822H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) DKFZp434P0216 rs10793975 0.5627 0 0.6790 0.00 0 3 exonic exonic intergenic HMCN2 DKFZp434P0216 ENSG00000215428(dist=1671),ENSG00000148357(dist=1638) unknown nonsynonymous SNV Na UNKNOWN DKFZp434P0216:uc004bzj.3:exon25:c.G2465A:p.R822H, Na Het;G>A 1078;44|49 Het;G>A 839;46|40 Hom;G>A 2021;0|77 N N - 9 133284378 133284378 A T snp intronic HMCN2 Hmcn2 ENSG00000148357 hemicentin 2 chr9:133046882-133309510 Tobacco Use Disorder GO:0006939;smooth muscle contraction;IBA|GO:0007155;cell adhesion;IEA|GO:0030335;positive regulation of cell migration;IBA|GO:0050896;response to stimulus;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032154;cleavage furrow;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN2 https://www.uniprot.org/uniprot/Q8NDA2 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN2&submit=Quick%0D%9109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN2 rs7042911 0.672923 0 0 1 0 0 intronic intronic intergenic HMCN2 DKFZp434P0216 ENSG00000215428(dist=1739),ENSG00000148357(dist=1570) Na Na Na Na Na Na Het;A>T 708;19|27 Het;A>T 355;14|14 Hom;A>T 597;0|20 N N - 9 133346379 133346379 C T snp intronic ASS1 Ass1 ENSG00000130707 argininosuccinate synthase 1 chr9:133320316-133376661 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] Lipoproteins; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. Urea cycle GO:0000050;urea cycle;TAS|GO:0000052;citrulline metabolic process;IMP|GO:0000053;argininosuccinate metabolic process;IMP|GO:0006526;arginine biosynthetic process;IEA|GO:0006531;aspartate metabolic process;IMP|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:1903038;negative regulation of leukocyte cell-cell adhesion;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004055;argininosuccinate synthase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IMP|GO:0016874;ligase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASS1 https://www.uniprot.org/uniprot/P00966 https://hpo.jax.org/app/browse/search?q=ASS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603470 http://www.informatics.jax.org/searchtool/Search.do?query=ASS1&submit=Quick%0D%6418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASS1 rs493389 0.623802 0 0 1 0 0 intronic intronic intronic ASS1 ASS1 ENSG00000130707 Na Na Na Na Na Na Het;C>T 1922;57|82 Het;C>T 2095;52|89 Hom;C>T 3712;0|133 N N - 9 133346920 133346920 A G snp intronic ASS1 Ass1 ENSG00000130707 argininosuccinate synthase 1 chr9:133320316-133376661 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] Lipoproteins; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. Urea cycle GO:0000050;urea cycle;TAS|GO:0000052;citrulline metabolic process;IMP|GO:0000053;argininosuccinate metabolic process;IMP|GO:0006526;arginine biosynthetic process;IEA|GO:0006531;aspartate metabolic process;IMP|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:1903038;negative regulation of leukocyte cell-cell adhesion;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004055;argininosuccinate synthase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IMP|GO:0016874;ligase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASS1 https://www.uniprot.org/uniprot/P00966 https://hpo.jax.org/app/browse/search?q=ASS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603470 http://www.informatics.jax.org/searchtool/Search.do?query=ASS1&submit=Quick%0D%6418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASS1 rs652313 0.792332 0.7651 0.8500 1 0 0 intronic intronic intronic ASS1 ASS1 ENSG00000130707 Na Na Na Na Na Na Het;A>G 1562;69|69 Het;A>G 1699;69|78 Hom;A>G 3154;0|117 N N - 9 133355371 133355371 G T snp intronic ASS1 Ass1 ENSG00000130707 argininosuccinate synthase 1 chr9:133320316-133376661 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] Lipoproteins; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. Urea cycle GO:0000050;urea cycle;TAS|GO:0000052;citrulline metabolic process;IMP|GO:0000053;argininosuccinate metabolic process;IMP|GO:0006526;arginine biosynthetic process;IEA|GO:0006531;aspartate metabolic process;IMP|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:1903038;negative regulation of leukocyte cell-cell adhesion;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004055;argininosuccinate synthase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IMP|GO:0016874;ligase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASS1 https://www.uniprot.org/uniprot/P00966 https://hpo.jax.org/app/browse/search?q=ASS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603470 http://www.informatics.jax.org/searchtool/Search.do?query=ASS1&submit=Quick%0D%6418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASS1 rs540140 0.209864 0 0 1 0 0 intronic intronic intronic ASS1 ASS1 ENSG00000130707 Na Na Na Na Na Na Het;G>T 81;10|4 Het;G>T 292;2|10 Hom;G>T 618;0|18 N N - 9 133355965 133355965 C G snp intronic ASS1 Ass1 ENSG00000130707 argininosuccinate synthase 1 chr9:133320316-133376661 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] Lipoproteins; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. Urea cycle GO:0000050;urea cycle;TAS|GO:0000052;citrulline metabolic process;IMP|GO:0000053;argininosuccinate metabolic process;IMP|GO:0006526;arginine biosynthetic process;IEA|GO:0006531;aspartate metabolic process;IMP|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:1903038;negative regulation of leukocyte cell-cell adhesion;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004055;argininosuccinate synthase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IMP|GO:0016874;ligase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASS1 https://www.uniprot.org/uniprot/P00966 https://hpo.jax.org/app/browse/search?q=ASS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603470 http://www.informatics.jax.org/searchtool/Search.do?query=ASS1&submit=Quick%0D%6418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASS1 rs1215970 0.211062 0 0 1 0 0 intronic intronic intronic ASS1 ASS1 ENSG00000130707 Na Na Na Na Na Na Het;C>G 954;36|38 Het;C>G 598;45|24 Hom;C>G 1621;0|53 N N - 9 133364632 133364632 A T snp intronic ASS1 Ass1 ENSG00000130707 argininosuccinate synthase 1 chr9:133320316-133376661 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] Lipoproteins; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. Urea cycle GO:0000050;urea cycle;TAS|GO:0000052;citrulline metabolic process;IMP|GO:0000053;argininosuccinate metabolic process;IMP|GO:0006526;arginine biosynthetic process;IEA|GO:0006531;aspartate metabolic process;IMP|GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0071499;cellular response to laminar fluid shear stress;IMP|GO:1903038;negative regulation of leukocyte cell-cell adhesion;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004055;argininosuccinate synthase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016597;amino acid binding;IMP|GO:0016874;ligase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ASS1 https://www.uniprot.org/uniprot/P00966 https://hpo.jax.org/app/browse/search?q=ASS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603470 http://www.informatics.jax.org/searchtool/Search.do?query=ASS1&submit=Quick%0D%6418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASS1 rs543048 0.486222 0 0 1 0 0 intronic intronic intronic ASS1 ASS1 ENSG00000130707 Na Na Na Na Na Na Het;A>T 129;23|11 Het;A>T 143;20|11 Hom;A>T 366;0|14 N N - 9 133554065 133554065 A G snp intronic PRDM12 Prdm12 ENSG00000130711 PR/SET domain 12 chr9:133539981-133558368 HEREDITARY SENSORY AUTONOMIC NEUROPATHY TYPE VIII GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019233;sensory perception of pain;IMP|GO:0022008;neurogenesis;IEA|GO:0031175;neuron projection development;IMP|GO:0032259;methylation;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IMP|GO:0051574;positive regulation of histone H3-K9 methylation;IDA|GO:1900111;positive regulation of histone H3-K9 dimethylation;IMP GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:1990226;histone methyltransferase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PRDM12 https://www.uniprot.org/uniprot/Q9H4Q4 https://hpo.jax.org/app/browse/search?q=PRDM12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616458 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM12&submit=Quick%0D%6419ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM12 rs7030674 0.427915 0.3651 0.3598 1 0 0 intronic intronic intronic PRDM12 PRDM12 ENSG00000130711 Na Na Na Na Na Na Het;A>G 992;31|43 Het;A>G 1023;33|46 Hom;A>G 2236;0|80 N N - 9 133577856 133577856 T TTC indel intronic EXOSC2 Exosc2 ENSG00000130713 exosome component 2 chr9:133569108-133580248 Hemoglobin A, Glycosylated Major pathway of rRNA processing in the nucleolus and cytosol GO:0000467;exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034427;nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5';IBA|GO:0034475;U4 snRNA 3'-end processing;IBA|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0071034;CUT catabolic process;IBA|GO:0071035;nuclear polyadenylation-dependent rRNA catabolic process;IBA|GO:0071038;nuclear polyadenylation-dependent tRNA catabolic process;IBA|GO:0071049;nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription;IBA|GO:0071051;polyadenylation-dependent snoRNA 3'-end processing;IBA GO:0000176;nuclear exosome (RNase complex);IBA|GO:0000177;cytoplasmic exosome (RNase complex);IBA|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008312;7S RNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/EXOSC2 https://www.uniprot.org/uniprot/Q13868 https://hpo.jax.org/app/browse/search?q=EXOSC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602238 http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC2&submit=Quick%0D%6420ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC2 rs10624550 0.477835 0 0 1 0 0 intronic intronic intronic EXOSC2 EXOSC2 ENSG00000130713 Na Na Na Na Na Na Het;+TC 146;5|5 Ref Hom;+TC 90;0|3 N N - 9 134322324 134322324 G A snp intronic PRRC2B Prrc2b ENSG00000130723 proline rich coiled-coil 2B chr9:134269480-134375584 GO:0030154;cell differentiation;IBA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRRC2B https://www.uniprot.org/uniprot/Q5JSZ5 http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2B&submit=Quick%0D%6424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2B rs2966340 0.802915 0 0 1 0 0 intronic intronic intronic PRRC2B PRRC2B ENSG00000130723 Na Na Na Na Na Na Het;G>A 54;8|3 Het;G>A 222;10|8 Hom;G>A 161;0|5 N N - 9 134350323 134350323 C G snp nonsynonymous SNV C881G T294S polar,hydrophilic,neutral polar,hydrophilic,neutral PRRC2B Prrc2b ENSG00000130723 proline rich coiled-coil 2B chr9:134269480-134375584 GO:0030154;cell differentiation;IBA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRRC2B https://www.uniprot.org/uniprot/Q5JSZ5 http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2B&submit=Quick%0D%6424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2B rs10736851 0.769569 0.7403 0.7965 0.33 4 12 exonic exonic exonic PRRC2B PRRC2B ENSG00000130723 nonsynonymous SNV nonsynonymous SNV unknown PRRC2B:NM_013318:exon15:c.C2807G:p.T936S, PRRC2B:uc004cao.4:exon3:c.C881G:p.T294S,PRRC2B:uc010mzj.1:exon8:c.C1556G:p.T519S,PRRC2B:uc004can.4:exon15:c.C2807G:p.T936S, UNKNOWN Het;C>G 982;74|44 Het;C>G 1240;49|52 Hom;C>G 3466;0|122 N N - 9 134350458 134350458 C T snp nonsynonymous SNV C1016T P339L hydrophobic,neutral aliphatic,hydrophobic,neutral PRRC2B Prrc2b ENSG00000130723 proline rich coiled-coil 2B chr9:134269480-134375584 GO:0030154;cell differentiation;IBA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRRC2B https://www.uniprot.org/uniprot/Q5JSZ5 http://www.informatics.jax.org/searchtool/Search.do?query=PRRC2B&submit=Quick%0D%6424ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRC2B rs10751478 0.76877 0.7400 0.7910 0.08 1 12 exonic exonic exonic PRRC2B PRRC2B ENSG00000130723 nonsynonymous SNV nonsynonymous SNV unknown PRRC2B:NM_013318:exon15:c.C2942T:p.P981L, PRRC2B:uc004cao.4:exon3:c.C1016T:p.P339L,PRRC2B:uc010mzj.1:exon8:c.C1691T:p.P564L,PRRC2B:uc004can.4:exon15:c.C2942T:p.P981L, UNKNOWN Het;C>T 1312;79|56 Het;C>T 1730;37|69 Hom;C>T 3201;0|113 N N - 9 134398249 134398249 C T snp intronic POMT1 Pomt1 ENSG00000130714 protein O-mannosyltransferase 1 chr9:134378289-134399193 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] Muscular Dystrophies|Muscular Dystrophies, Limb-Girdle; Cleft Lip|Cleft Palate; Brain Neoplasms|Glioma; Muscular Dystrophies; Brain Diseases|Muscular Dystrophies Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. O-linked glycosylation GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IEA|GO:0007275;multicellular organism development;TAS|GO:0030198;extracellular matrix organization;IEA|GO:0035269;protein O-linked mannosylation;IEA|GO:0071712;ER-associated misfolded protein catabolic process;IBA|GO:0097502;mannosylation;IEA|GO:1904100;positive regulation of protein O-linked glycosylation;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA GO:0000030;mannosyltransferase activity;IEA|GO:0004169;dolichyl-phosphate-mannose-protein mannosyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POMT1 https://www.uniprot.org/uniprot/Q9Y6A1 https://hpo.jax.org/app/browse/search?q=POMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607423 http://www.informatics.jax.org/searchtool/Search.do?query=POMT1&submit=Quick%0D%6421ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POMT1 rs10122068 0.748203 0 0 1 0 0 intronic intronic intronic POMT1 POMT1 ENSG00000130714 Na Na Na Na Na Na Het;C>T 479;49|23 Het;C>T 564;23|25 Hom;C>T 1287;0|44 N N - 9 134398946 134398946 T C snp UTR3 *453T>C POMT1 Pomt1 ENSG00000130714 protein O-mannosyltransferase 1 chr9:134378289-134399193 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] Muscular Dystrophies|Muscular Dystrophies, Limb-Girdle; Cleft Lip|Cleft Palate; Brain Neoplasms|Glioma; Muscular Dystrophies; Brain Diseases|Muscular Dystrophies Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. O-linked glycosylation GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IEA|GO:0007275;multicellular organism development;TAS|GO:0030198;extracellular matrix organization;IEA|GO:0035269;protein O-linked mannosylation;IEA|GO:0071712;ER-associated misfolded protein catabolic process;IBA|GO:0097502;mannosylation;IEA|GO:1904100;positive regulation of protein O-linked glycosylation;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA GO:0000030;mannosyltransferase activity;IEA|GO:0004169;dolichyl-phosphate-mannose-protein mannosyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POMT1 https://www.uniprot.org/uniprot/Q9Y6A1 https://hpo.jax.org/app/browse/search?q=POMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607423 http://www.informatics.jax.org/searchtool/Search.do?query=POMT1&submit=Quick%0D%6421ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POMT1 rs11005 0.749002 0 0 1 0 0 UTR3 UTR3 UTR3 POMT1(NM_007171:c.*453T>C,NM_001136114:c.*453T>C,NM_001136113:c.*453T>C,NM_001077365:c.*453T>C,NM_001077366:c.*453T>C) POMT1(uc004cax.3:c.*453T>C,uc011mcj.2:c.*453T>C,uc004cau.3:c.*453T>C,uc004cav.3:c.*453T>C,uc004caw.3:c.*453T>C,uc011mck.2:c.*453T>C,uc011mcl.2:c.*453T>C,uc011mcm.2:c.*453T>C) ENSG00000130714(ENST00000404875:c.*453T>C,ENST00000423007:c.*453T>C,ENST00000341012:c.*453T>C,ENST00000372228:c.*453T>C,ENST00000402686:c.*453T>C,ENST00000372220:c.*453T>C) Na Na Na Na Na Na Het;T>C 488;43|22 Het;T>C 507;42|27 Hom;T>C 698;0|25 N N - 9 134400000 134400004 TGTGA T indel UTR3 *427_*423delinsA UCK1 Uck1 ENSG00000130717 uridine-cytidine kinase 1 chr9:134399188-134406655 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] Pyrimidine salvage GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0008152;metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/UCK1 https://www.uniprot.org/uniprot/Q9HA47 https://www.ncbi.nlm.nih.gov/omim/?term=609328 http://www.informatics.jax.org/searchtool/Search.do?query=UCK1&submit=Quick%0D%6422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCK1 rs10609062 0.455471 0 0 1 0 0 UTR3 UTR3 UTR3 UCK1(NM_001135954:c.*560_*556delinsA,NM_001261451:c.*427_*423delinsA,NM_001261450:c.*427_*423delinsA,NM_031432:c.*427_*423delinsA) UCK1(uc031tfj.1:c.*427_*423delinsA,uc010mzk.4:c.*427_*423delinsA,uc004cay.3:c.*427_*423delinsA,uc004cba.3:c.*560_*556delinsA) ENSG00000130717(ENST00000372215:c.*427_*423delinsA,ENST00000372208:c.*560_*556delinsA,ENST00000491309:c.*705_*701delinsA,ENST00000372211:c.*427_*423delinsA,ENST00000372210:c.*427_*423delinsA) Na Na Na Na Na Na Het;-GTGA 1876;61|52 Het;-GTGA 1309;51|36 Hom;-GTGA 4194;0|97 N N - 9 134404784 134404784 G C snp intronic UCK1 Uck1 ENSG00000130717 uridine-cytidine kinase 1 chr9:134399188-134406655 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] Pyrimidine salvage GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0008152;metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/UCK1 https://www.uniprot.org/uniprot/Q9HA47 https://www.ncbi.nlm.nih.gov/omim/?term=609328 http://www.informatics.jax.org/searchtool/Search.do?query=UCK1&submit=Quick%0D%6422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCK1 rs2296956 0.341853 0 0 1 0 0 intronic intronic intronic UCK1 UCK1 ENSG00000130717 Na Na Na Na Na Na Het;G>C 439;20|17 Het;G>C 343;12|11 Hom;G>C 868;0|24 N N - 9 134406071 134406071 C G snp nonsynonymous SNV G85C E29Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral UCK1 Uck1 ENSG00000130717 uridine-cytidine kinase 1 chr9:134399188-134406655 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] Pyrimidine salvage GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0008152;metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/UCK1 https://www.uniprot.org/uniprot/Q9HA47 https://www.ncbi.nlm.nih.gov/omim/?term=609328 http://www.informatics.jax.org/searchtool/Search.do?query=UCK1&submit=Quick%0D%6422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCK1 rs7867616 0.86222 0.8115 0.8662 0.25 2 8 exonic exonic exonic UCK1 UCK1 ENSG00000130717 nonsynonymous SNV nonsynonymous SNV unknown UCK1:NM_001261451:exon2:c.G85C:p.E29Q, UCK1:uc031tfj.1:exon2:c.G85C:p.E29Q, UNKNOWN Het;C>G 1167;36|48 Het;C>G 899;32|38 Hom;C>G 2499;0|89 N N - 9 134406131 134406131 G T snp intronic UCK1 Uck1 ENSG00000130717 uridine-cytidine kinase 1 chr9:134399188-134406655 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] Pyrimidine salvage GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0008152;metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/UCK1 https://www.uniprot.org/uniprot/Q9HA47 https://www.ncbi.nlm.nih.gov/omim/?term=609328 http://www.informatics.jax.org/searchtool/Search.do?query=UCK1&submit=Quick%0D%6422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCK1 rs3904960 0.761182 0 0 1 0 0 intronic intronic intronic UCK1 UCK1 ENSG00000130717 Na Na Na Na Na Na Het;G>T 382;13|16 Het;G>T 261;5|11 Hom;G>T 869;0|28 N N - 9 134406650 134406650 C T snp UTR5 -89G>A UCK1 Uck1 ENSG00000130717 uridine-cytidine kinase 1 chr9:134399188-134406655 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] Pyrimidine salvage GO:0006206;pyrimidine nucleobase metabolic process;IBA|GO:0008152;metabolic process;IEA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0044206;UMP salvage;IEA|GO:0044211;CTP salvage;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004849;uridine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019206;nucleoside kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/UCK1 https://www.uniprot.org/uniprot/Q9HA47 https://www.ncbi.nlm.nih.gov/omim/?term=609328 http://www.informatics.jax.org/searchtool/Search.do?query=UCK1&submit=Quick%0D%6422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCK1 rs7041225 0.765176 0 0 1 0 0 UTR5 UTR5 UTR5 UCK1(NM_001135954:c.-89G>A,NM_001261451:c.-89G>A,NM_001261450:c.-89G>A,NM_031432:c.-89G>A) UCK1(uc031tfj.1:c.-89G>A,uc010mzk.4:c.-89G>A,uc004cay.3:c.-89G>A,uc004cba.3:c.-89G>A) ENSG00000130717(ENST00000372215:c.-89G>A) Na Na Na Na Na Na Het;C>T 228;7|10 Het;C>T 57;8|3 Hom;C>T 242;0|6 N N - 9 135133239 135133239 C T snp intergenic NTNG2 Ntng2 ENSG00000196358 netrin G2 chr9:135037334-135119921 Lupus Erythematosus, Systemic; systemic lupus erythematosus; Creatinine Mice homozygous for a null allele exhibit an absence of startle reflex and abnormal ABR amplitude. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0031225;anchored component of membrane;IEA|GO:0046658;anchored component of plasma membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NTNG2 http://www.informatics.jax.org/searchtool/Search.do?query=NTNG2&submit=Quick%0D%16332ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTNG2 rs10793908 0.595447 0 0 1 0 0 intergenic intergenic intergenic NTNG2(dist=15019),SETX(dist=3588) NTNG2(dist=15019),SETX(dist=3588) ENSG00000196358(dist=13318),ENSG00000107290(dist=3504) Na Na Na Na Na Na Het;C>T 303;10|12 Het;C>T 204;4|7 Hom;C>T 264;0|9 N N - 9 135271987 135271987 T C snp intronic TTF1 Ttf1 ENSG00000125482 transcription termination factor 1 chr9:135251008-135282209 This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011] Lymphoproliferative Disorders|Myelodysplastic Syndromes; Hirschsprung's disease; Congenital Hypothyroidism RNA Polymerase I Transcription Termination GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006361;transcription initiation from RNA polymerase I promoter;IEA|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0008156;negative regulation of DNA replication;IEA|GO:0030154;cell differentiation;IBA|GO:0044267;cellular protein metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TTF1 https://www.uniprot.org/uniprot/Q15361 https://www.ncbi.nlm.nih.gov/omim/?term=600777 http://www.informatics.jax.org/searchtool/Search.do?query=TTF1&submit=Quick%0D%5782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTF1 rs1166321 0.71905 0 0 1 0 0 intronic intronic intronic TTF1 TTF1 ENSG00000125482 Na Na Na Na Na Na Het;T>C 252;2|10 Het;T>C 145;8|8 Hom;T>C 577;0|18 N N - 9 135273507 135273507 G A snp intronic TTF1 Ttf1 ENSG00000125482 transcription termination factor 1 chr9:135251008-135282209 This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011] Lymphoproliferative Disorders|Myelodysplastic Syndromes; Hirschsprung's disease; Congenital Hypothyroidism RNA Polymerase I Transcription Termination GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006361;transcription initiation from RNA polymerase I promoter;IEA|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0008156;negative regulation of DNA replication;IEA|GO:0030154;cell differentiation;IBA|GO:0044267;cellular protein metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TTF1 https://www.uniprot.org/uniprot/Q15361 https://www.ncbi.nlm.nih.gov/omim/?term=600777 http://www.informatics.jax.org/searchtool/Search.do?query=TTF1&submit=Quick%0D%5782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTF1 rs569288 0.71885 0.7614 0.7996 1 0 0 intronic intronic intronic TTF1 TTF1 ENSG00000125482 Na Na Na Na Na Na Het;G>A 281;4|11 Het;G>A 413;9|18 Hom;G>A 323;0|9 N N - 9 135273607 135273607 C G snp synonymous SNV G153C L51L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TTF1 Ttf1 ENSG00000125482 transcription termination factor 1 chr9:135251008-135282209 This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011] Lymphoproliferative Disorders|Myelodysplastic Syndromes; Hirschsprung's disease; Congenital Hypothyroidism RNA Polymerase I Transcription Termination GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006361;transcription initiation from RNA polymerase I promoter;IEA|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0008156;negative regulation of DNA replication;IEA|GO:0030154;cell differentiation;IBA|GO:0044267;cellular protein metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TTF1 https://www.uniprot.org/uniprot/Q15361 https://www.ncbi.nlm.nih.gov/omim/?term=600777 http://www.informatics.jax.org/searchtool/Search.do?query=TTF1&submit=Quick%0D%5782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTF1 rs504525 0.71865 0.7613 0.7985 1 0 0 exonic exonic exonic TTF1 TTF1 ENSG00000125482 synonymous SNV synonymous SNV unknown TTF1:NM_001205296:exon3:c.G153C:p.L51L,TTF1:NM_007344:exon4:c.G1698C:p.L566L, TTF1:uc004cbl.3:exon4:c.G1698C:p.L566L,TTF1:uc004cbm.3:exon3:c.G153C:p.L51L, UNKNOWN Het;C>G 600;49|29 Het;C>G 815;32|37 Hom;C>G 1887;0|71 N N - 9 135273759 135273759 G GA indel intronic TTF1 Ttf1 ENSG00000125482 transcription termination factor 1 chr9:135251008-135282209 This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011] Lymphoproliferative Disorders|Myelodysplastic Syndromes; Hirschsprung's disease; Congenital Hypothyroidism RNA Polymerase I Transcription Termination GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006353;DNA-templated transcription, termination;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006361;transcription initiation from RNA polymerase I promoter;IEA|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0008156;negative regulation of DNA replication;IEA|GO:0030154;cell differentiation;IBA|GO:0044267;cellular protein metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TTF1 https://www.uniprot.org/uniprot/Q15361 https://www.ncbi.nlm.nih.gov/omim/?term=600777 http://www.informatics.jax.org/searchtool/Search.do?query=TTF1&submit=Quick%0D%5782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTF1 rs397805998 0.910743 0.8898 0.9236 1 0 0 intronic intronic intronic TTF1 TTF1 ENSG00000125482 Na Na Na Na Na Na Het;+A 704;16|23 Het;+A 683;19|22 Hom;+A 1437;0|40 N N - 9 135862632 135862632 C T snp intronic GFI1B Gfi1b ENSG00000165702 growth factor independent 1B transcriptional repressor chr9:135820932-135867083 This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] BLEEDING DISORDER PLATELET-TYPE 17 Mice homozygous for disruption of this gene die as embryos by day E15. Mature adult red blood cells and megakaryocytes fail to develop. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0030097;hemopoiesis;IEA|GO:0051569;regulation of histone H3-K4 methylation;IEA GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IDA|GO:0016363;nuclear matrix;IDA GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GFI1B https://hpo.jax.org/app/browse/search?q=GFI1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604383 http://www.informatics.jax.org/searchtool/Search.do?query=GFI1B&submit=Quick%0D%11608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFI1B rs633153 0.483227 0.4769 0.5352 1 0 0 intronic intronic intronic GFI1B GFI1B ENSG00000165702 Na Na Na Na Na Na Het;C>T 579;11|22 Het;C>T 145;15|8 Hom;C>T 706;0|25 N N - 9 135894894 135894894 A G snp ncRNA_exonic EEF1A1P5 rs12350044 0.500399 0 0 1 0 0 intergenic intergenic ncRNA_exonic GFI1B(dist=27810),GTF3C5(dist=11168) GFI1B(dist=27810),GTF3C5(dist=11168) ENSG00000196205 Na Na Na Na Na Na Het;A>G 1035;37|46 Het;A>G 765;34|36 Hom;A>G 2651;0|99 N N - 9 135903997 135903997 T C snp intergenic GFI1B Gfi1b ENSG00000165702 growth factor independent 1B transcriptional repressor chr9:135820932-135867083 This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] BLEEDING DISORDER PLATELET-TYPE 17 Mice homozygous for disruption of this gene die as embryos by day E15. Mature adult red blood cells and megakaryocytes fail to develop. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0030097;hemopoiesis;IEA|GO:0051569;regulation of histone H3-K4 methylation;IEA GO:0005634;nucleus;IDA|GO:0005667;transcription factor complex;IDA|GO:0016363;nuclear matrix;IDA GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GFI1B https://hpo.jax.org/app/browse/search?q=GFI1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604383 http://www.informatics.jax.org/searchtool/Search.do?query=GFI1B&submit=Quick%0D%11608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFI1B rs623489 0.305511 0 0 1 0 0 intergenic intergenic intergenic GFI1B(dist=36913),GTF3C5(dist=2065) GFI1B(dist=36913),GTF3C5(dist=2065) ENSG00000196205(dist=7444),ENSG00000148308(dist=2079) Na Na Na Na Na Na Het;T>C 326;6|11 Het;T>C 86;4|4 Hom;T>C 180;0|6 N N - 9 136131846 136131846 T C snp ncRNA_intronic ABO Abo ENSG00000281879 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase chr9:136125788-136150617 This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008] serum soluble E-selectin; factor VIII levels; Interleukin-6; myocardial infarct; heart failure; malaria; alpha-amylase; Phytosterols; Intercellular Adhesion Molecule-1; Helicobacter Infections|pancreatic neoplasm|Pancreatic Neoplasms; von Willebrand's factor levels; Fatty Liver|Metabolic Syndrome X; DNA Degradation, Necrotic; gastritis, chronic atrophic; null; myocardial infarct; Venous Thromboembolism; Erythrocyte Indices; von Willebrand factor levels; Malaria, Falciparum; Angiotensin-Converting Enzyme Inhibitors; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Cardiovascular Diseases; Diabetes Mellitus, Type 1|; plasma levels of liver enzymes; E-Selectin; ADHD | attention-deficit hyperactivity disorder; asthma; thrombosis; soluble levels of adhesion molecules ; Perioperative genomic profiles ; breast cancer; leukemia; Cholesterol, LDL; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;; Angiotensin-converting enzyme activity ; atherosclerosis, coronary; tuberculosis; Erythrocyte Count; normal variation; Venous thromboembolism; HIV tuberculosis; Leukemia; Venous Thrombosis; P-Selectin; Alkaline Phosphatase; cirrhosis, alcoholic; Hemorrhage|von Willebrand Diseases; Hematocrit; Mucositis|Pharyngeal Diseases|Stomatitis; plasma E-selectin levels ; Depression; Metabolism; graft-versus-host disease; Graves Disease; Tumor Necrosis Factor-alpha; factor VIII activity; pancreatic cancer; thromboembolism, venous; Brain Ischemia|Hemorrhage; soluble ICAM-1; Coronary Artery Disease; Pancreatic Neoplasms; Cystic Fibrosis|Pseudomonas Infections; liver enzymes; Brain Ischemia|Intracranial Hemorrhages|Myocardial Infarction|Stroke|Venous Thrombosis; atherosclerosis, coronary; atherosclerosis, coronary; cirrhosis, alcoholic; diabetes, type 1; Duodenal Ulcer; Thrombophilia|Thrombosis|Venous Thrombosis; Type 2 Diabetes| edema | rosiglitazone; alpha-Thalassemia|Glucosephosphate Dehydrogenase Deficiency|Malaria, Falciparum|Sickle Cell Trait; protein quantitative trait loci; Hemorrhagic Disorders; Alpha Thalassemia|alpha-Thalassemia|Elliptocytosis, Hereditary|Malaria, Falciparum; fibrin fragment D http://www.genecards.org/index.php?path=/Search/keyword/ABO https://www.ncbi.nlm.nih.gov/omim/?term=110300 http://www.informatics.jax.org/searchtool/Search.do?query=ABO&submit=Quick%0D%22344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABO rs7873416 0.453874 0 0 1 0 0 intronic intronic ncRNA_intronic ABO ABO ENSG00000175164 Na Na Na Na Na Na Het;T>C 220;12|12 Het;T>C 71;11|5 Hom;T>C 478;0|13 N N - 9 136132873 136132873 T C snp synonymous SNV A294G T98T polar,hydrophilic,neutral polar,hydrophilic,neutral ABO Abo ENSG00000281879 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase chr9:136125788-136150617 This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008] serum soluble E-selectin; factor VIII levels; Interleukin-6; myocardial infarct; heart failure; malaria; alpha-amylase; Phytosterols; Intercellular Adhesion Molecule-1; Helicobacter Infections|pancreatic neoplasm|Pancreatic Neoplasms; von Willebrand's factor levels; Fatty Liver|Metabolic Syndrome X; DNA Degradation, Necrotic; gastritis, chronic atrophic; null; myocardial infarct; Venous Thromboembolism; Erythrocyte Indices; von Willebrand factor levels; Malaria, Falciparum; Angiotensin-Converting Enzyme Inhibitors; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Cardiovascular Diseases; Diabetes Mellitus, Type 1|; plasma levels of liver enzymes; E-Selectin; ADHD | attention-deficit hyperactivity disorder; asthma; thrombosis; soluble levels of adhesion molecules ; Perioperative genomic profiles ; breast cancer; leukemia; Cholesterol, LDL; myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;; Angiotensin-converting enzyme activity ; atherosclerosis, coronary; tuberculosis; Erythrocyte Count; normal variation; Venous thromboembolism; HIV tuberculosis; Leukemia; Venous Thrombosis; P-Selectin; Alkaline Phosphatase; cirrhosis, alcoholic; Hemorrhage|von Willebrand Diseases; Hematocrit; Mucositis|Pharyngeal Diseases|Stomatitis; plasma E-selectin levels ; Depression; Metabolism; graft-versus-host disease; Graves Disease; Tumor Necrosis Factor-alpha; factor VIII activity; pancreatic cancer; thromboembolism, venous; Brain Ischemia|Hemorrhage; soluble ICAM-1; Coronary Artery Disease; Pancreatic Neoplasms; Cystic Fibrosis|Pseudomonas Infections; liver enzymes; Brain Ischemia|Intracranial Hemorrhages|Myocardial Infarction|Stroke|Venous Thrombosis; atherosclerosis, coronary; atherosclerosis, coronary; cirrhosis, alcoholic; diabetes, type 1; Duodenal Ulcer; Thrombophilia|Thrombosis|Venous Thrombosis; Type 2 Diabetes| edema | rosiglitazone; alpha-Thalassemia|Glucosephosphate Dehydrogenase Deficiency|Malaria, Falciparum|Sickle Cell Trait; protein quantitative trait loci; Hemorrhagic Disorders; Alpha Thalassemia|alpha-Thalassemia|Elliptocytosis, Hereditary|Malaria, Falciparum; fibrin fragment D http://www.genecards.org/index.php?path=/Search/keyword/ABO https://www.ncbi.nlm.nih.gov/omim/?term=110300 http://www.informatics.jax.org/searchtool/Search.do?query=ABO&submit=Quick%0D%22344ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABO rs8176720 0.453275 0.3715 0.3991 1 0 0 exonic exonic ncRNA_exonic ABO ABO ENSG00000175164 unknown synonymous SNV Na UNKNOWN ABO:uc004cda.1:exon7:c.A294G:p.T98T, Na Het;T>C 661;47|32 Het;T>C 456;29|21 Hom;T>C 1920;1|73 N N - 9 136211248 136211248 A G snp intronic MED22 Med22 ENSG00000281022 mediator complex subunit 22 chr9:136205160-136214986 This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] Type 2 Diabetes| edema | rosiglitazone Transcriptional regulation of white adipocyte differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;TAS|GO:0016592;mediator complex;IDA GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MED22 https://www.uniprot.org/uniprot/Q15528 https://www.ncbi.nlm.nih.gov/omim/?term=185641 http://www.informatics.jax.org/searchtool/Search.do?query=MED22&submit=Quick%0D%22263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MED22 rs9645009 0.405751 0 0 1 0 0 intronic intronic intronic MED22 MED22 ENSG00000148297 Na Na Na Na Na Na Het;A>G 1184;47|47 Het;A>G 881;31|38 Hom;A>G 2728;1|97 N N - 9 136268084 136268084 A G snp nonsynonymous SNV A1417G K473E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) C9orf96 rs3124747 0.470048 0.5727 0.6320 1 0 0 exonic exonic exonic STKLD1 C9orf96 ENSG00000198870 nonsynonymous SNV nonsynonymous SNV unknown STKLD1:NM_153710:exon14:c.A1417G:p.K473E, C9orf96:uc004cdk.3:exon14:c.A1417G:p.K473E, UNKNOWN Het;A>G 1210;46|50 Het;A>G 1433;45|62 Hom;A>G 3153;0|113 N N - 9 136291594 136291594 G A snp intronic ADAMTS13 Adamts13 ENSG00000281244 ADAM metallopeptidase with thrombospondin type 1 motif 13 chr9:136279478-136324508 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13 https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604134 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13 rs28515121 0.263578 0 0 1 0 0 intronic intronic intronic ADAMTS13 ADAMTS13 ENSG00000160323 Na Na Na Na Na Na Het;G>A 393;5|15 Het;G>A 228;15|9 Hom;G>A 580;0|19 N N - 9 136301982 136301982 C G snp nonsynonymous SNV C1249G Q417E polar,hydrophilic,neutral polar,hydrophilic,charged(-) ADAMTS13 Adamts13 ENSG00000281244 ADAM metallopeptidase with thrombospondin type 1 motif 13 chr9:136279478-136324508 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13 https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604134 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13 rs2301612 0.271565 0.3013 0.4530 0.25 3 12 exonic exonic exonic ADAMTS13 ADAMTS13 ENSG00000160323 nonsynonymous SNV nonsynonymous SNV unknown ADAMTS13:NM_139025:exon12:c.C1342G:p.Q448E,ADAMTS13:NM_139026:exon12:c.C1249G:p.Q417E,ADAMTS13:NM_139027:exon12:c.C1342G:p.Q448E, ADAMTS13:uc004cdu.1:exon12:c.C1249G:p.Q417E,ADAMTS13:uc004cdv.4:exon12:c.C1342G:p.Q448E,ADAMTS13:uc004cdt.1:exon12:c.C1342G:p.Q448E,ADAMTS13:uc004cdz.4:exon5:c.C352G:p.Q118E,ADAMTS13:uc004cdx.4:exon12:c.C1249G:p.Q417E,ADAMTS13:uc004cdw.4:exon12:c.C1342G:p.Q448E, UNKNOWN Het;C>G 475;11|20 Het;C>G 149;24|9 Hom;C>G 752;0|27 N N - 9 136303123 136303123 C G snp intronic ADAMTS13 Adamts13 ENSG00000281244 ADAM metallopeptidase with thrombospondin type 1 motif 13 chr9:136279478-136324508 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13 https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604134 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13 rs2028003 0.266773 0 0 1 0 0 intronic intronic intronic ADAMTS13 ADAMTS13 ENSG00000160323 Na Na Na Na Na Na Het;C>G 496;19|19 Het;C>G 825;13|29 Hom;C>G 1293;0|41 N N - 9 136303253 136303253 T C snp intronic ADAMTS13 Adamts13 ENSG00000281244 ADAM metallopeptidase with thrombospondin type 1 motif 13 chr9:136279478-136324508 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Alcoholism; stroke, ischemic; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis; null; E-Selectin; plasma levels of liver enzymes; Congenital thrombotic thrombocytopenic purpura; arterial thrombosis; Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic; Alkaline Phosphatase Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IDA|GO:0007160;cell-matrix adhesion;NAS|GO:0007229;integrin-mediated signaling pathway;NAS|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;IEA|GO:0009100;glycoprotein metabolic process;NAS|GO:0016485;protein processing;TAS|GO:0030168;platelet activation;NAS|GO:0036066;protein O-linked fucosylation;TAS|GO:0043171;peptide catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009986;cell surface;NAS GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS13 https://hpo.jax.org/app/browse/search?q=ADAMTS13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604134 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS13&submit=Quick%0D%22285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS13 rs2028002 0.272165 0 0 1 0 0 intronic intronic intronic ADAMTS13 ADAMTS13 ENSG00000160323 Na Na Na Na Na Na Het;T>C 201;11|7 Het;T>C 410;11|13 Hom;T>C 507;0|13 N N - 9 136328657 136328657 T C snp synonymous SNV T174C I58I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CACFD1 Cacfd1 ENSG00000280479 calcium channel flower domain containing 1 chr9:136325089-136335970 Alkaline Phosphatase; E-Selectin Mice homozygous for a knock-out allele exhibit resistance to DMPA/TPA-induced papilloma formation (number and latency) associated with decreased cell proliferation and increased apoptosis of cells in papillomas. Presynaptic depolarization and calcium channel opening GO:0008150;biological_process;ND|GO:0016192;vesicle-mediated transport;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CACFD1 https://www.ncbi.nlm.nih.gov/omim/?term=613104 http://www.informatics.jax.org/searchtool/Search.do?query=CACFD1&submit=Quick%0D%22209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACFD1 rs3124765 0.841054 0.7986 0.8342 1 0 0 exonic exonic exonic CACFD1 CACFD1 ENSG00000160325 synonymous SNV synonymous SNV unknown CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_001135775:exon2:c.T174C:p.I58I, CACFD1:uc011mdg.1:exon2:c.T174C:p.I58I,CACFD1:uc011mdi.1:exon2:c.T174C:p.I58I,CACFD1:uc011mdh.1:exon2:c.T174C:p.I58I,CACFD1:uc004cec.2:exon2:c.T174C:p.I58I, UNKNOWN Het;T>C 1219;44|60 Het;T>C 509;48|29 Hom;T>C 1393;0|54 N N - 9 136340200 136340200 T G snp synonymous SNV A810C P270P hydrophobic,neutral hydrophobic,neutral SLC2A6 Slc2a6 ENSG00000281165 solute carrier family 2 member 6 chr9:136336217-136344259 Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002] Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Gout; E-Selectin Homozygous null females fed a Western diet exhibit decreased adiposity and females fed a chow diet, but not Western diet, show lower respiratory exchange ratio. Cellular hexose transport GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015992;proton transport;IEA|GO:0035428;hexose transmembrane transport;IBA|GO:0046323;glucose import;IBA|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005351;sugar:proton symporter activity;IBA|GO:0005355;glucose transmembrane transporter activity;NAS|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0055056;D-glucose transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC2A6 https://www.ncbi.nlm.nih.gov/omim/?term=606813 http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A6&submit=Quick%0D%22276ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A6 rs2073935 0.727835 0.6427 0.7402 1 0 0 exonic exonic exonic SLC2A6 SLC2A6 ENSG00000160326 synonymous SNV synonymous SNV unknown SLC2A6:NM_017585:exon6:c.A810C:p.P270P,SLC2A6:NM_001145099:exon6:c.A810C:p.P270P, SLC2A6:uc004ceg.3:exon6:c.A741C:p.P247P,SLC2A6:uc004cef.3:exon6:c.A810C:p.P270P,SLC2A6:uc004cee.3:exon6:c.A810C:p.P270P, UNKNOWN Het;T>G 1312;41|56 Het;T>G 983;41|48 Hom;T>G 2243;0|84 N N - 9 136402345 136402345 T A snp intronic ADAMTSL2 Adamtsl2 ENSG00000197859 ADAMTS like 2 chr9:136397286-136440641 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] E-Selectin Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0060481;lobar bronchus epithelium development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0050436;microfibril binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL2 https://hpo.jax.org/app/browse/search?q=ADAMTSL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612277 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL2&submit=Quick%0D%16734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL2 rs11516156 0.328874 0 0 1 0 0 intronic intronic intronic ADAMTSL2 ADAMTSL2 ENSG00000197859 Na Na Na Na Na Na Het;T>A 76;2|3 Ref Hom;T>A 126;0|4 N N - 9 136405042 136405042 T A snp intronic ADAMTSL2 Adamtsl2 ENSG00000197859 ADAMTS like 2 chr9:136397286-136440641 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] E-Selectin Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0060481;lobar bronchus epithelium development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0050436;microfibril binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL2 https://hpo.jax.org/app/browse/search?q=ADAMTSL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612277 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL2&submit=Quick%0D%16734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL2 rs13302230 0.438898 0.2692 0.3840 1 0 0 intronic intronic intronic ADAMTSL2 ADAMTSL2 ENSG00000197859 Na Na Na Na Na Na Het;T>A 269;34|14 Het;T>A 573;37|31 Hom;T>A 907;4|38 N N - 9 136440144 136440144 G A snp UTR3 *158G>A ADAMTSL2 Adamtsl2 ENSG00000197859 ADAMTS like 2 chr9:136397286-136440641 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] E-Selectin Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IMP|GO:0060481;lobar bronchus epithelium development;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0050436;microfibril binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL2 https://hpo.jax.org/app/browse/search?q=ADAMTSL2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612277 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL2&submit=Quick%0D%16734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL2 rs1105952 0.463658 0 0 1 0 0 UTR3 UTR3 UTR3 ADAMTSL2(NM_001145320:c.*158G>A,NM_014694:c.*158G>A) ADAMTSL2(uc011mdl.2:c.*158G>A,uc004cei.3:c.*158G>A,uc004cej.3:c.*158G>A) ENSG00000197859(ENST00000354484:c.*158G>A,ENST00000393061:c.*158G>A,ENST00000393060:c.*158G>A) Na Na Na Na Na Na Het;G>A 560;41|29 Het;G>A 668;21|31 Hom;G>A 1393;0|52 N N - 9 136523669 136523669 C T snp UTR3 *100C>T DBH Dbh ENSG00000123454 dopamine beta-hydroxylase chr9:136501482-136524466 The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008] paranoia; Tourette syndrome; Syncope, Vasovagal|Vasovagal syncope; hypertension, pregnancy induced; alcoholism; alcohol withdrawal; migraine with aura; interpersonal sensitivity; paranoid ideation; psychoticism; personality; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; continuous performance task; Hypercholesterolemia|LDLC levels; nicotine dependence; cotinine; migrane. typical; Migraine Disorders; Autism; normal variation; smoking; Parkinson's disease; Tobacco Use Disorder; epilepsy; attention deficit disorder conduct disorder oppositional defiant disorder; ADHD; smoking behavior; Type 2 Diabetes| edema | rosiglitazone; antipsychotic response | Weight Gain; dopamine beta-hydroxylase activity; cognitive performance; Bulimia; autism; attention deficit hyperactivity disorder; alcoholism; delirium tremens, alcohol-induced; Alzheimer's disease; multiple sclerosis; several psychiatric disorders; null; alcoholism; personality traits; alcohol consumption; ADHD | attention deficit hyperactivity disorder; Parkinson's disease ; autonomic disease; Perceptual Disorders; hormone disturbance; Schizophrenia; ADHD | attention-deficit hyperactivity disorder; Chronic renal failure|Kidney Failure, Chronic; Migraine with Aura; delusional disorder hallucinations; schizophrenia; hypertension; migraine; melanoma; Attention-deficit/hyperactivity disorder; antisocial behavioural traits; Dopamine beta-Hydroxylase Activity; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit. Catecholamine biosynthesis GO:0001816;cytokine production;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0001975;response to amphetamine;IEA|GO:0002443;leukocyte mediated immunity;IEA|GO:0006589;octopamine biosynthetic process;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007613;memory;IEA|GO:0007626;locomotory behavior;IEA|GO:0008306;associative learning;IEA|GO:0008542;visual learning;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042309;homoiothermy;IEA|GO:0042420;dopamine catabolic process;IDA|GO:0042421;norepinephrine biosynthetic process;IEA|GO:0042423;catecholamine biosynthetic process;TAS|GO:0042593;glucose homeostasis;IEA|GO:0042596;fear response;IEA|GO:0042711;maternal behavior;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0048149;behavioral response to ethanol;IEA|GO:0048265;response to pain;IEA|GO:0050900;leukocyte migration;IEA|GO:0055114;oxidation-reduction process;IEA|GO:2001236;regulation of extrinsic apoptotic signaling pathway;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030667;secretory granule membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0034466;chromaffin granule lumen;IEA|GO:0034774;secretory granule lumen;TAS|GO:0042584;chromaffin granule membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003824;catalytic activity;TAS|GO:0004497;monooxygenase activity;IEA|GO:0004500;dopamine beta-monooxygenase activity;TAS|GO:0005507;copper ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016715;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen;IEA|GO:0031418;L-ascorbic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBH https://www.uniprot.org/uniprot/P09172 https://hpo.jax.org/app/browse/search?q=DBH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609312 http://www.informatics.jax.org/searchtool/Search.do?query=DBH&submit=Quick%0D%5530ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBH rs129882 0.255391 0 0 1 0 0 UTR3 UTR3 UTR3 DBH(NM_000787:c.*100C>T) DBH(uc004cel.3:c.*100C>T) ENSG00000123454(ENST00000393056:c.*100C>T) Na Na Na Na Na Na Het;C>T 885;30|36 Het;C>T 682;31|30 Hom;C>T 1868;0|68 N N - 9 136648565 136648565 G A snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs680458 0.732428 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;G>A 256;3|9 Het;G>A 247;3|11 Hom;G>A 454;0|18 N N - 9 136648606 136648606 G A snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs1468128 0.690096 0.6048 0.7246 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;G>A 423;8|18 Het;G>A 495;5|21 Hom;G>A 825;0|34 N N - 9 136654497 136654497 G A snp UTR5 -983C>T VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2072059 0.436502 0.4215 0.4431 1 0 0 intronic UTR5 intronic VAV2 VAV2(uc004cet.1:c.-983C>T) ENSG00000160293 Na Na Na Na Na Na Het;G>A 96;14|7 Het;G>A 340;7|15 Hom;G>A 575;0|23 N N - 9 136657066 136657140 ACTGGGTGGGGTGTGTGTGCATGTGAGCGGGCTGTGCTGGGTGGGGGGTGTGTGACTGTGTGTGAATGAGCTGTG A indel intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 Na 0 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;-CTGGGTGGGGTGTGTGTGCATGTGAGCGGGCTGTGCTGGGTGGGGGGTGTGTGACTGTGTGTGAATGAGCTGTG 357;7|10 Het;-CTGGGTGGGGTGTGTGTGCATGTGAGCGGGCTGTGCTGGGTGGGGGGTGTGTGACTGTGTGTGAATGAGCTGTG 375;7|10 Hom;-CTGGGTGGGGTGTGTGTGCATGTGAGCGGGCTGTGCTGGGTGGGGGGTGTGTGACTGTGTGTGAATGAGCTGTG 541;0|14 N N - 9 136661820 136661820 G C snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs10119331 0.374401 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;G>C 37;3|2 Het;G>C 133;1|5 Hom;G>C 116;0|4 N N - 9 136672493 136672493 A G snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2510246 0.397364 0.4196 0.3632 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;A>G 79;13|4 Het;A>G 175;14|9 Hom;A>G 910;0|34 N N - 9 136672529 136672529 A G snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2428089 0.445487 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;A>G 60;9|4 Het;A>G 98;7|4 Hom;A>G 538;0|18 N N - 9 136804211 136804211 G A snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2073886 0.702676 0.7196 0.7450 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;G>A 402;38|22 Het;G>A 570;40|28 Hom;G>A 1464;0|56 N N - 9 136809052 136809052 T C snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2789852 0.757388 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;T>C 52;1|3 Ref Hom;T>C 163;0|7 N N - 9 136809116 136809116 G A snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2519110 0.713059 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;G>A 137;1|4 Ref Hom;G>A 107;0|3 N N - 9 136809118 136809118 C G snp intronic VAV2 Vav2 ENSG00000160293 vav guanine nucleotide exchange factor 2 chr9:136627016-136857726 VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] coronary spastic angina; Chronic renal failure|Kidney Failure, Chronic; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; multiple sclerosis Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. VEGFR2 mediated vascular permeability GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0010468;regulation of gene expression;IMP|GO:0016477;cell migration;IEA|GO:0030031;cell projection assembly;IEA|GO:0030032;lamellipodium assembly;IEA|GO:0030168;platelet activation;TAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0005085;guanyl-nucleotide exchange factor activity;EXP|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005154;epidermal growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VAV2 https://www.ncbi.nlm.nih.gov/omim/?term=600428 http://www.informatics.jax.org/searchtool/Search.do?query=VAV2&submit=Quick%0D%10444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV2 rs2519111 0.713858 0 0 1 0 0 intronic intronic intronic VAV2 VAV2 ENSG00000160293 Na Na Na Na Na Na Het;C>G 137;1|4 Ref Hom;C>G 107;0|3 N N - 9 137004907 137004907 T C snp intronic WDR5 Wdr5 ENSG00000196363 WD repeat domain 5 chr9:137000487-137025093 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Bone Mineral Density Neddylation GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR5 https://www.ncbi.nlm.nih.gov/omim/?term=609012 http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5 rs28581991 0.46845 0 0 1 0 0 intronic intronic intronic WDR5 WDR5 ENSG00000196363 Na Na Na Na Na Na Het;T>C 321;35|13 Het;T>C 597;26|24 Hom;T>C 1380;0|45 N N - 9 137005023 137005023 C T snp synonymous SNV C24T P8P hydrophobic,neutral hydrophobic,neutral WDR5 Wdr5 ENSG00000196363 WD repeat domain 5 chr9:137000487-137025093 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Bone Mineral Density Neddylation GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR5 https://www.ncbi.nlm.nih.gov/omim/?term=609012 http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5 rs11556390 0.319489 0.3652 0.4087 1 0 0 exonic exonic exonic WDR5 WDR5 ENSG00000196363 synonymous SNV synonymous SNV unknown WDR5:NM_017588:exon2:c.C24T:p.P8P,WDR5:NM_052821:exon1:c.C24T:p.P8P, WDR5:uc004cey.3:exon2:c.C24T:p.P8P,WDR5:uc004cez.3:exon1:c.C24T:p.P8P, UNKNOWN Het;C>T 2042;118|102 Het;C>T 1639;110|82 Hom;C>T 4527;0|169 N N - 9 137013582 137013582 G A snp intronic WDR5 Wdr5 ENSG00000196363 WD repeat domain 5 chr9:137000487-137025093 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Bone Mineral Density Neddylation GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR5 https://www.ncbi.nlm.nih.gov/omim/?term=609012 http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5 rs28695913 0.303514 0 0 1 0 0 intronic intronic intronic WDR5 WDR5 ENSG00000196363 Na Na Na Na Na Na Het;G>A 350;5|12 Het;G>A 96;4|4 Hom;G>A 368;0|13 N N - 9 137019511 137019511 T C snp intronic WDR5 Wdr5 ENSG00000196363 WD repeat domain 5 chr9:137000487-137025093 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Bone Mineral Density Neddylation GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR5 https://www.ncbi.nlm.nih.gov/omim/?term=609012 http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5 rs28703244 0.611022 0 0 1 0 0 intronic intronic intronic WDR5 WDR5 ENSG00000196363 Na Na Na Na Na Na Het;T>C 763;15|28 Het;T>C 403;16|16 Hom;T>C 1080;0|33 N N - 9 137021803 137021803 C T snp intronic WDR5 Wdr5 ENSG00000196363 WD repeat domain 5 chr9:137000487-137025093 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Bone Mineral Density Neddylation GO:0001501;skeletal system development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0031175;neuron projection development;IEA|GO:0035948;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0043687;post-translational protein modification;TAS|GO:0043966;histone H3 acetylation;IDA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0051568;histone H3-K4 methylation;IDA|GO:0060271;cilium assembly;IBA GO:0000123;histone acetyltransferase complex;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005671;Ada2/Gcn5/Ada3 transcription activator complex;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0036064;ciliary basal body;IBA|GO:0044666;MLL3/4 complex;IDA|GO:0048188;Set1C/COMPASS complex;IDA|GO:0071339;MLL1 complex;IDA GO:0005515;protein binding;IPI|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0035064;methylated histone binding;IDA|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/WDR5 https://www.ncbi.nlm.nih.gov/omim/?term=609012 http://www.informatics.jax.org/searchtool/Search.do?query=WDR5&submit=Quick%0D%16334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR5 rs28522840 0.383387 0 0 1 0 0 intronic intronic intronic WDR5 WDR5 ENSG00000196363 Na Na Na Na Na Na Het;C>T 152;16|8 Het;C>T 309;2|11 Hom;C>T 402;0|12 N N - 9 137620847 137620847 A C snp intronic COL5A1 Col5a1 ENSG00000130635 collagen type V alpha 1 chain chr9:137533620-137736686 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Intervertebral Disk Displacement; Knee Injuries|Rupture; Achilles tendinopathy; Premature Birth; Tunica Media; Inflammation|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Type 2 Diabetes| edema | rosiglitazone; null; Infection|Inflammation|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Longevity; Rupture|Tendinopathy; Achilles tendon pathology; range of motion measurements; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Cornea Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. Collagen chain trimerization GO:0001568;blood vessel development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0007155;cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0032964;collagen biosynthetic process;IMP|GO:0035313;wound healing, spreading of epidermal cells;IMP|GO:0035989;tendon development;IEA|GO:0043588;skin development;IMP|GO:0045112;integrin biosynthetic process;IMP|GO:0048592;eye morphogenesis;IMP|GO:0051128;regulation of cellular component organization;IEA|GO:0097435;supramolecular fiber organization;IMP|GO:1903225;negative regulation of endodermal cell differentiation;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IMP|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;NAS|GO:0005201;extracellular matrix structural constituent;IEA|GO:0008201;heparin binding;IDA|GO:0043394;proteoglycan binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL5A1 https://www.uniprot.org/uniprot/P20908 https://hpo.jax.org/app/browse/search?q=COL5A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120215 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A1&submit=Quick%0D%6401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A1 rs3128597 0.762181 0 0 1 0 0 intronic intronic intronic COL5A1 COL5A1 ENSG00000130635 Na Na Na Na Na Na Het;A>C 138;2|5 Ref Hom;A>C 305;0|10 N N - 9 137623601 137623601 C G snp intronic COL5A1 Col5a1 ENSG00000130635 collagen type V alpha 1 chain chr9:137533620-137736686 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Intervertebral Disk Displacement; Knee Injuries|Rupture; Achilles tendinopathy; Premature Birth; Tunica Media; Inflammation|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Type 2 Diabetes| edema | rosiglitazone; null; Infection|Inflammation|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Longevity; Rupture|Tendinopathy; Achilles tendon pathology; range of motion measurements; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Cornea Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. Collagen chain trimerization GO:0001568;blood vessel development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0007155;cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0032964;collagen biosynthetic process;IMP|GO:0035313;wound healing, spreading of epidermal cells;IMP|GO:0035989;tendon development;IEA|GO:0043588;skin development;IMP|GO:0045112;integrin biosynthetic process;IMP|GO:0048592;eye morphogenesis;IMP|GO:0051128;regulation of cellular component organization;IEA|GO:0097435;supramolecular fiber organization;IMP|GO:1903225;negative regulation of endodermal cell differentiation;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IMP|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;NAS|GO:0005201;extracellular matrix structural constituent;IEA|GO:0008201;heparin binding;IDA|GO:0043394;proteoglycan binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL5A1 https://www.uniprot.org/uniprot/P20908 https://hpo.jax.org/app/browse/search?q=COL5A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120215 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A1&submit=Quick%0D%6401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A1 rs3124310 0.708067 0 0 1 0 0 intronic intronic intronic COL5A1 COL5A1 ENSG00000130635 Na Na Na Na Na Na Het;C>G 556;41|20 Het;C>G 1086;28|34 Hom;C>G 1796;0|53 N N - 9 137672012 137672012 C T snp intronic COL5A1 Col5a1 ENSG00000130635 collagen type V alpha 1 chain chr9:137533620-137736686 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Intervertebral Disk Displacement; Knee Injuries|Rupture; Achilles tendinopathy; Premature Birth; Tunica Media; Inflammation|Premature Birth; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Type 2 Diabetes| edema | rosiglitazone; null; Infection|Inflammation|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Longevity; Rupture|Tendinopathy; Achilles tendon pathology; range of motion measurements; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Cornea Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. Collagen chain trimerization GO:0001568;blood vessel development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0007155;cell adhesion;IMP|GO:0016477;cell migration;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;IMP|GO:0030574;collagen catabolic process;TAS|GO:0032964;collagen biosynthetic process;IMP|GO:0035313;wound healing, spreading of epidermal cells;IMP|GO:0035989;tendon development;IEA|GO:0043588;skin development;IMP|GO:0045112;integrin biosynthetic process;IMP|GO:0048592;eye morphogenesis;IMP|GO:0051128;regulation of cellular component organization;IEA|GO:0097435;supramolecular fiber organization;IMP|GO:1903225;negative regulation of endodermal cell differentiation;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;IMP|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IMP|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;NAS|GO:0005201;extracellular matrix structural constituent;IEA|GO:0008201;heparin binding;IDA|GO:0043394;proteoglycan binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048407;platelet-derived growth factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COL5A1 https://www.uniprot.org/uniprot/P20908 https://hpo.jax.org/app/browse/search?q=COL5A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120215 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A1&submit=Quick%0D%6401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A1 rs3124932 0.287939 0.3588 0.4088 1 0 0 intronic intronic intronic COL5A1 COL5A1 ENSG00000130635 Na Na Na Na Na Na Het;C>T 968;25|42 Het;C>T 615;17|28 Hom;C>T 1154;0|45 N N - 9 137717610 137717610 T C snp ncRNA_intronic LOC101448202 rs7868111 0.746006 0.7120 0.7258 1 0 0 ncRNA_intronic ncRNA_intronic intronic LOC101448202 LOC101448202 ENSG00000130635 Na Na Na Na Na Na Het;T>C 589;30|29 Het;T>C 702;23|29 Hom;T>C 1090;0|41 N N - 9 137717869 137717869 C T snp ncRNA_intronic LOC101448202 rs4842172 0.732228 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic LOC101448202 LOC101448202 ENSG00000130635 Na Na Na Na Na Na Het;C>T 148;11|6 Het;C>T 66;6|3 Hom;C>T 292;0|9 N N - 9 137859736 137859736 A T snp intergenic FCN1 Fcnb ENSG00000085265 ficolin 1 chr9:137801431-137809809 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008] Triglycerides; Arthritis, Rheumatoid|Rheumatoid Arthritis Mice homozygous for a knock-out allele exhibit normal collagen antibody-induced arthritis. Neutrophil degranulation GO:0001867;complement activation, lectin pathway;TAS|GO:0002376;immune system process;IEA|GO:0002752;cell surface pattern recognition receptor signaling pathway;IMP|GO:0006508;proteolysis;IEA|GO:0006956;complement activation;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0034394;protein localization to cell surface;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043654;recognition of apoptotic cell;IDA|GO:0045087;innate immune response;IEA|GO:0046597;negative regulation of viral entry into host cell;IDA|GO:2000484;positive regulation of interleukin-8 secretion;IMP GO:0005576;extracellular region;TAS|GO:0005581;collagen trimer;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031232;extrinsic component of external side of plasma membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0001664;G-protein coupled receptor binding;IPI|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008329;signaling pattern recognition receptor activity;IMP|GO:0030246;carbohydrate binding;IEA|GO:0033691;sialic acid binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCN1 https://www.uniprot.org/uniprot/O00602 https://www.ncbi.nlm.nih.gov/omim/?term=601252 http://www.informatics.jax.org/searchtool/Search.do?query=FCN1&submit=Quick%0D%1880ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCN1 rs11103605 0.644369 0 0 1 0 0 intergenic intergenic intergenic FCN1(dist=49930),OLFM1(dist=107353) FCN1(dist=49930),OLFM1(dist=107353) ENSG00000236403(dist=24695),ENSG00000130558(dist=107532) Na Na Na Na Na Na Het;A>T 493;18|22 Het;A>T 195;22|12 Hom;A>T 540;0|23 N N - 9 138286247 138286247 G A snp intergenic C9orf62 rs7855390 0.401558 0 0 1 0 0 intergenic intergenic intergenic C9orf62(dist=47843),PPP1R26-AS1(dist=68318) C9orf62(dist=47843),LOC100506599(dist=68318) ENSG00000235572(dist=40181),ENSG00000224682(dist=53045) Na Na Na Na Na Na Het;G>A 1689;18|63 Het;G>A 966;41|44 Hom;G>A 2379;3|84 N N - 9 138376649 138376649 T C snp nonsynonymous SNV T293C V98A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PPP1R26 Ppp1r26 ENSG00000196422 protein phosphatase 1 regulatory subunit 26 chr9:138370925-138380739 GO:0010923;negative regulation of phosphatase activity;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26 https://www.ncbi.nlm.nih.gov/omim/?term=614056 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26 rs3748192 0.418331 0.2223 0.3237 0.15 2 13 exonic exonic exonic PPP1R26 PPP1R26 ENSG00000196422 nonsynonymous SNV nonsynonymous SNV unknown PPP1R26:NM_014811:exon4:c.T293C:p.V98A, PPP1R26:uc004cfr.1:exon4:c.T293C:p.V98A,PPP1R26:uc022bpi.1:exon1:c.T293C:p.V98A, UNKNOWN Het;T>C 1449;68|67 Het;T>C 1642;84|76 Hom;T>C 4448;1|161 N N - 9 138376972 138376972 A G snp nonsynonymous SNV A616G K206E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) PPP1R26 Ppp1r26 ENSG00000196422 protein phosphatase 1 regulatory subunit 26 chr9:138370925-138380739 GO:0010923;negative regulation of phosphatase activity;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26 https://www.ncbi.nlm.nih.gov/omim/?term=614056 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26 rs3928777 0.411142 0.2234 0.3209 0.08 1 13 exonic exonic exonic PPP1R26 PPP1R26 ENSG00000196422 nonsynonymous SNV nonsynonymous SNV unknown PPP1R26:NM_014811:exon4:c.A616G:p.K206E, PPP1R26:uc004cfr.1:exon4:c.A616G:p.K206E,PPP1R26:uc022bpi.1:exon1:c.A616G:p.K206E, UNKNOWN Het;A>G 1741;81|78 Het;A>G 1896;96|86 Hom;A>G 4247;0|158 N N - 9 138377657 138377657 T C snp nonsynonymous SNV T1301C M434T hydrophobic,neutral polar,hydrophilic,neutral PPP1R26 Ppp1r26 ENSG00000196422 protein phosphatase 1 regulatory subunit 26 chr9:138370925-138380739 GO:0010923;negative regulation of phosphatase activity;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26 https://www.ncbi.nlm.nih.gov/omim/?term=614056 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26 rs1808998 0.464058 0.2666 0.3380 0.08 1 13 exonic exonic exonic PPP1R26 PPP1R26 ENSG00000196422 nonsynonymous SNV nonsynonymous SNV unknown PPP1R26:NM_014811:exon4:c.T1301C:p.M434T, PPP1R26:uc004cfr.1:exon4:c.T1301C:p.M434T,PPP1R26:uc022bpi.1:exon1:c.T1301C:p.M434T, UNKNOWN Het;T>C 1648;66|69 Het;T>C 1773;69|73 Hom;T>C 4197;0|146 N N - 9 138377853 138377853 A G snp synonymous SNV A1497G V499V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PPP1R26 Ppp1r26 ENSG00000196422 protein phosphatase 1 regulatory subunit 26 chr9:138370925-138380739 GO:0010923;negative regulation of phosphatase activity;IDA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R26 https://www.ncbi.nlm.nih.gov/omim/?term=614056 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R26&submit=Quick%0D%16359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R26 rs2004074 0.427516 0.2357 0.3213 1 0 0 exonic exonic exonic PPP1R26 PPP1R26 ENSG00000196422 synonymous SNV synonymous SNV unknown PPP1R26:NM_014811:exon4:c.A1497G:p.V499V, PPP1R26:uc004cfr.1:exon4:c.A1497G:p.V499V,PPP1R26:uc022bpi.1:exon1:c.A1497G:p.V499V, UNKNOWN Het;A>G 3879;199|169 Het;A>G 3338;195|142 Hom;A>G 9834;0|351 N N - 9 138391774 138391774 C T snp UTR5 -77G>A C9orf116 1700007K13Rik ENSG00000160345 chromosome 9 open reading frame 116 chr9:138387027-138393580 Mice homozygous for a knock-out allele exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms. Homozygous embryos with isomerisms die in utero due to associated cardiovascular malformations. GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf116 https://www.ncbi.nlm.nih.gov/omim/?term=614502 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf116&submit=Quick%0D%10458ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf116 rs2274652 0.704073 0 0 1 0 0 upstream upstream UTR5 C9orf116,MRPS2 C9orf116,MRPS2 ENSG00000160345(ENST00000371789:c.-77G>A) Na Na Na Na Na Na Het;C>T 708;26|33 Het;C>T 450;23|20 Hom;C>T 1475;0|52 N N - 9 138393128 138393128 T G snp UTR5 -2264T>G MRPS2 Mrps2 ENSG00000122140 mitochondrial ribosomal protein S2 chr9:138391830-138396519 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial translation termination GO:0006412;translation;IBA|GO:0032543;mitochondrial translation;ISS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005763;mitochondrial small ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0015935;small ribosomal subunit;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003735;structural constituent of ribosome;ISS http://www.genecards.org/index.php?path=/Search/keyword/MRPS2 https://www.uniprot.org/uniprot/Q9Y399 https://hpo.jax.org/app/browse/search?q=MRPS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611971 http://www.informatics.jax.org/searchtool/Search.do?query=MRPS2&submit=Quick%0D%5387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPS2 rs968569 0.778554 0 0 1 0 0 intronic UTR5 intronic MRPS2 MRPS2(uc031tfo.1:c.-2264T>G) ENSG00000122140,ENSG00000160345 Na Na Na Na Na Na Het;T>G 495;23|21 Het;T>G 390;22|18 Hom;T>G 1106;0|40 N N - 9 138396251 138396251 A G snp ncRNA_intronic BC015688 rs535 0.729233 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC101928525 BC015688 ENSG00000226706 Na Na Na Na Na Na Het;A>G 1972;67|83 Het;A>G 817;83|41 Hom;A>G 3844;0|135 N N - 9 138437774 138437774 A G snp upstream OBP2A Obp2b ENSG00000122136 odorant binding protein 2A chr9:138437985-138441815 This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005549;odorant binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/OBP2A https://www.uniprot.org/uniprot/Q9NY56 https://www.ncbi.nlm.nih.gov/omim/?term=164320 http://www.informatics.jax.org/searchtool/Search.do?query=OBP2A&submit=Quick%0D%5386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OBP2A rs464177 0.536142 0 0 1 0 0 upstream upstream upstream OBP2A OBP2A ENSG00000122136 Na Na Na Na Na Na Het;A>G 90;10|4 Het;A>G 64;8|3 Hom;A>G 383;0|11 N N - 9 138440525 138440525 C G snp nonsynonymous SNV C425G P142R hydrophobic,neutral polar,hydrophilic,charged(+) OBP2A Obp2b ENSG00000122136 odorant binding protein 2A chr9:138437985-138441815 This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005549;odorant binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/OBP2A https://www.uniprot.org/uniprot/Q9NY56 https://www.ncbi.nlm.nih.gov/omim/?term=164320 http://www.informatics.jax.org/searchtool/Search.do?query=OBP2A&submit=Quick%0D%5386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OBP2A rs2590500 0.486621 0.3081 0.4608 0.27 3 11 exonic exonic exonic OBP2A OBP2A ENSG00000122136 nonsynonymous SNV nonsynonymous SNV unknown OBP2A:NM_001293189:exon5:c.C425G:p.P142R, OBP2A:uc004cgc.3:exon5:c.C425G:p.P142R, UNKNOWN Het;C>G 2169;36|56 Het;C>G 2131;50|55 Hom;C>G 4779;0|105 N N - 9 138440527 138440527 T C snp nonsynonymous SNV T293C L98S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral OBP2A Obp2b ENSG00000122136 odorant binding protein 2A chr9:138437985-138441815 This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005549;odorant binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/OBP2A https://www.uniprot.org/uniprot/Q9NY56 https://www.ncbi.nlm.nih.gov/omim/?term=164320 http://www.informatics.jax.org/searchtool/Search.do?query=OBP2A&submit=Quick%0D%5386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OBP2A rs2590501 0.486621 0.3056 0.4608 0.09 1 11 exonic exonic exonic OBP2A OBP2A ENSG00000122136 nonsynonymous SNV nonsynonymous SNV unknown OBP2A:NM_001293189:exon5:c.T427C:p.W143R,OBP2A:NM_001293193:exon4:c.T293C:p.L98S, OBP2A:uc010nav.3:exon4:c.T293C:p.L98S,OBP2A:uc004cgc.3:exon5:c.T427C:p.W143R, UNKNOWN Het;T>C 2169;35|55 Het;T>C 2131;49|55 Hom;T>C 4779;0|109 N N - 9 138478504 138478504 C T snp ncRNA_exonic LINC01502 rs10858127 0.521765 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01502 LOC100130954 ENSG00000237339 Na Na Na Na Na Na Het;C>T 3808;136|107 Het;C>T 2547;106|116 Hom;C>T 6128;1|216 N N - 9 138517853 138517853 G C snp intronic GLT6D1 Glt6d1 ENSG00000204007 glycosyltransferase 6 domain containing 1 chr9:138515502-138531386 The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] null; Periodontitis; periodontitis; longevity GO:0005975;carbohydrate metabolic process;IEA|GO:0009247;glycolipid biosynthetic process;IBA|GO:0030259;lipid glycosylation;IBA GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLT6D1 https://www.ncbi.nlm.nih.gov/omim/?term=613699 http://www.informatics.jax.org/searchtool/Search.do?query=GLT6D1&submit=Quick%0D%17183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT6D1 rs1333241 0.80631 0 0 1 0 0 intronic intronic intronic GLT6D1 GLT6D1 ENSG00000204007 Na Na Na Na Na Na Het;G>C 860;42|34 Het;G>C 414;18|18 Hom;G>C 1883;0|67 N N - 9 138518114 138518114 G A snp intronic GLT6D1 Glt6d1 ENSG00000204007 glycosyltransferase 6 domain containing 1 chr9:138515502-138531386 The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] null; Periodontitis; periodontitis; longevity GO:0005975;carbohydrate metabolic process;IEA|GO:0009247;glycolipid biosynthetic process;IBA|GO:0030259;lipid glycosylation;IBA GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLT6D1 https://www.ncbi.nlm.nih.gov/omim/?term=613699 http://www.informatics.jax.org/searchtool/Search.do?query=GLT6D1&submit=Quick%0D%17183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT6D1 rs11103106 0.522564 0 0 1 0 0 intronic intronic intronic GLT6D1 GLT6D1 ENSG00000204007 Na Na Na Na Na Na Het;G>A 920;40|39 Het;G>A 898;18|37 Hom;G>A 1240;2|45 N N - 9 138523332 138523332 C A snp intronic GLT6D1 Glt6d1 ENSG00000204007 glycosyltransferase 6 domain containing 1 chr9:138515502-138531386 The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] null; Periodontitis; periodontitis; longevity GO:0005975;carbohydrate metabolic process;IEA|GO:0009247;glycolipid biosynthetic process;IBA|GO:0030259;lipid glycosylation;IBA GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLT6D1 https://www.ncbi.nlm.nih.gov/omim/?term=613699 http://www.informatics.jax.org/searchtool/Search.do?query=GLT6D1&submit=Quick%0D%17183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT6D1 rs1333234 0.808906 0.7396 0.7540 1 0 0 intronic intronic intronic GLT6D1 GLT6D1 ENSG00000204007 Na Na Na Na Na Na Het;C>A 509;52|29 Het;C>A 695;41|33 Hom;C>A 1906;0|69 N N - 9 138523411 138523411 C T snp intronic GLT6D1 Glt6d1 ENSG00000204007 glycosyltransferase 6 domain containing 1 chr9:138515502-138531386 The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] null; Periodontitis; periodontitis; longevity GO:0005975;carbohydrate metabolic process;IEA|GO:0009247;glycolipid biosynthetic process;IBA|GO:0030259;lipid glycosylation;IBA GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IBA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLT6D1 https://www.ncbi.nlm.nih.gov/omim/?term=613699 http://www.informatics.jax.org/searchtool/Search.do?query=GLT6D1&submit=Quick%0D%17183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLT6D1 rs1333233 0.808706 0 0 1 0 0 intronic intronic intronic GLT6D1 GLT6D1 ENSG00000204007 Na Na Na Na Na Na Het;C>T 261;14|10 Het;C>T 319;6|14 Hom;C>T 450;0|14 N N - 9 138639469 138639469 A G snp intronic KCNT1 Kcnt1 ENSG00000107147 potassium sodium-activated channel subfamily T member 1 chr9:138594031-138684992 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Body Mass Index Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0008076;voltage-gated potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005267;potassium channel activity;IEA|GO:0015269;calcium-activated potassium channel activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KCNT1 https://www.uniprot.org/uniprot/Q5JUK3 https://hpo.jax.org/app/browse/search?q=KCNT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608167 http://www.informatics.jax.org/searchtool/Search.do?query=KCNT1&submit=Quick%0D%3580ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNT1 rs11103155 0.465256 0 0 1 0 0 intronic intronic intronic KCNT1 KCNT1 ENSG00000107147 Na Na Na Na Na Na Het;A>G 56;1|4 Het;A>G 44;5|4 Hom;A>G 120;0|6 N N - 9 139159178 139159178 A G snp intergenic QSOX2 Qsox2 ENSG00000165661 quiescin sulfhydryl oxidase 2 chr9:139098179-139137687 QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009] height; Body Height GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA|GO:0031965;nuclear membrane;IEA GO:0003756;protein disulfide isomerase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016971;flavin-linked sulfhydryl oxidase activity;IBA|GO:0016972;thiol oxidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/QSOX2 https://www.ncbi.nlm.nih.gov/omim/?term=612860 http://www.informatics.jax.org/searchtool/Search.do?query=QSOX2&submit=Quick%0D%11593ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QSOX2 rs62579923 0.129193 0 0 1 0 0 intergenic intergenic intergenic QSOX2(dist=21491),DKFZP434A062(dist=57820) QSOX2(dist=21491),DKFZP434A062(dist=57820) ENSG00000264527(dist=16127),ENSG00000267845(dist=59911) Na Na Na Na Na Na Het;A>G 73;2|4 Ref Hom;A>G 180;0|6 N N - 9 139235823 139235823 A AGGGCT indel UTR3 *206A>AGGGCT GPSM1 Gpsm1 ENSG00000160360 G protein signaling modulator 1 chr9:139221932-139254057 G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. G alpha (i) signalling events GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPSM1 https://www.ncbi.nlm.nih.gov/omim/?term=609491 http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1 rs112024031 0.54992 0 0 1 0 0 UTR3 UTR3 UTR3 GPSM1(NM_015597:c.*206A>AGGGCT) GPSM1(uc004chc.3:c.*206A>AGGGCT) ENSG00000160360(ENST00000392945:c.*206A>AGGGCT) Na Na Na Na Na Na Het;+GGGCT 116;5|4 Het;+GGGCT 206;3|6 Hom;+GGGCT 143;0|4 N N - 9 139243026 139243026 G T snp intronic GPSM1 Gpsm1 ENSG00000160360 G protein signaling modulator 1 chr9:139221932-139254057 G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. G alpha (i) signalling events GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPSM1 https://www.ncbi.nlm.nih.gov/omim/?term=609491 http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1 rs117390886 0.0261581 0 0 1 0 0 intronic intronic intronic GPSM1 GPSM1 ENSG00000160360 Na Na Na Na Na Na Het;G>T 161;9|6 Het;G>T 322;3|10 Hom;G>T 271;0|8 N N - 9 139244016 139244016 C G snp intronic GPSM1 Gpsm1 ENSG00000160360 G protein signaling modulator 1 chr9:139221932-139254057 G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. G alpha (i) signalling events GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPSM1 https://www.ncbi.nlm.nih.gov/omim/?term=609491 http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1 Na 0 0 0 1 0 0 intronic intronic intronic GPSM1 GPSM1 ENSG00000160360 Na Na Na Na Na Na Het;C>G 1060;34|44 Het;C>G 720;31|28 Hom;C>G 2311;0|80 N N - 9 139251480 139251480 C T snp intronic GPSM1 Gpsm1 ENSG00000160360 G protein signaling modulator 1 chr9:139221932-139254057 G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. G alpha (i) signalling events GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0050790;regulation of catalytic activity;IEA GO:0000139;Golgi membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005092;GDP-dissociation inhibitor activity;IEA|GO:0030695;GTPase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPSM1 https://www.ncbi.nlm.nih.gov/omim/?term=609491 http://www.informatics.jax.org/searchtool/Search.do?query=GPSM1&submit=Quick%0D%10461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPSM1 rs3923827 0.565495 0 0 1 0 0 intronic intronic intronic GPSM1 GPSM1 ENSG00000160360 Na Na Na Na Na Na Het;C>T 56;1|4 Ref Hom;C>T 258;0|11 N N - 9 139258186 139258186 C CGCCCTGCCCCG indel UTR5;UTR3 -20G>CGGGGCAGGGCG DNLZ Dnlz ENSG00000213221 DNL-type zinc finger chr9:139253932-139258241 GO:0006457;protein folding;IBA|GO:0030150;protein import into mitochondrial matrix;IBA|GO:0050821;protein stabilization;IBA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051087;chaperone binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DNLZ http://www.informatics.jax.org/searchtool/Search.do?query=DNLZ&submit=Quick%0D%18104ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNLZ rs201269237 0 0.1706 0.0613 1 0 0 UTR5 UTR5;UTR3 UTR5 DNLZ(NM_001080849:c.-20G>CGGGGCAGGGCG) DNLZ(uc004chf.2:c.-20G>CGGGGCAGGGCG);CARD9(uc004chg.3:c.*568G>CGGGGCAGGGCG) ENSG00000213221(ENST00000371738:c.-20G>CGGGGCAGGGCG) Na Na Na Na Na Na Het;+GCCCTGCCCCG 272;11|8 Het;+GCCCTGCCCCG 301;3|9 Hom;+GCCCTGCCCCG 995;0|23 N N - 9 139273402 139273402 C T snp synonymous SNV G2877A A959A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SNAPC4 Snapc4 ENSG00000165684 small nuclear RNA activating complex polypeptide 4 chr9:139270029-139293249 This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016] Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0009301;snRNA transcription;TAS|GO:0030154;cell differentiation;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0042796;snRNA transcription from RNA polymerase III promoter;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0019185;snRNA-activating protein complex;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SNAPC4 https://www.ncbi.nlm.nih.gov/omim/?term=602777 http://www.informatics.jax.org/searchtool/Search.do?query=SNAPC4&submit=Quick%0D%11600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPC4 rs3812567 0.780751 0.7727 0.7190 1 0 0 exonic exonic exonic SNAPC4 SNAPC4 ENSG00000165684 synonymous SNV synonymous SNV unknown SNAPC4:NM_003086:exon21:c.G2877A:p.A959A, SNAPC4:uc004chh.3:exon21:c.G2877A:p.A959A, UNKNOWN Het;C>T 1602;81|68 Het;C>T 1218;57|54 Hom;C>T 4202;0|150 N N - 9 139276430 139276430 G A snp synonymous SNV C2163T H721H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SNAPC4 Snapc4 ENSG00000165684 small nuclear RNA activating complex polypeptide 4 chr9:139270029-139293249 This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016] Tobacco Use Disorder RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0009301;snRNA transcription;TAS|GO:0030154;cell differentiation;IBA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0042796;snRNA transcription from RNA polymerase III promoter;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0019185;snRNA-activating protein complex;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SNAPC4 https://www.ncbi.nlm.nih.gov/omim/?term=602777 http://www.informatics.jax.org/searchtool/Search.do?query=SNAPC4&submit=Quick%0D%11600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPC4 rs34850728 0.105232 0.1433 0.1785 1 0 0 exonic exonic exonic SNAPC4 SNAPC4 ENSG00000165684 synonymous SNV synonymous SNV unknown SNAPC4:NM_003086:exon17:c.C2163T:p.H721H, SNAPC4:uc004chh.3:exon17:c.C2163T:p.H721H, UNKNOWN Het;G>A 969;47|48 Het;G>A 812;52|40 Hom;G>A 2208;0|87 N N - 9 139313587 139313587 C T snp nonsynonymous SNV C542T A181V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PMPCA Pmpca ENSG00000165688 peptidase, mitochondrial processing alpha subunit chr9:139305110-139318213 The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016] Acquired Immunodeficiency Syndrome|Disease Progression Processing of SMDT1 GO:0006508;proteolysis;IEA|GO:0006627;protein processing involved in protein targeting to mitochondrion;IMP|GO:0006851;mitochondrial calcium ion transport;TAS GO:0005615;extracellular space;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005759;mitochondrial matrix;IEA|GO:0016020;membrane;IEA GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PMPCA https://hpo.jax.org/app/browse/search?q=PMPCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613036 http://www.informatics.jax.org/searchtool/Search.do?query=PMPCA&submit=Quick%0D%11602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PMPCA rs117893486 0.0121805 0.0255 0.0234 1 0 0 intronic exonic intronic PMPCA PMPCA ENSG00000165688 Na nonsynonymous SNV Na Na PMPCA:uc004chm.1:exon5:c.C542T:p.A181V, Na Het;C>T 1045;56|50 Het;C>T 927;50|44 Hom;C>T 2443;1|95 N N - 9 139370217 139370217 G A snp synonymous SNV C1851T H617H aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SEC16A Sec16a ENSG00000148396 SEC16 homolog A, endoplasmic reticulum export factor chr9:139334549-139372141 This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013] COPII (Coat Protein 2) Mediated Vesicle Transport GO:0006810;transport;IEA|GO:0007029;endoplasmic reticulum organization;IDA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0021762;substantia nigra development;IEP|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEC16A https://www.uniprot.org/uniprot/O15027 https://www.ncbi.nlm.nih.gov/omim/?term=612854 http://www.informatics.jax.org/searchtool/Search.do?query=SEC16A&submit=Quick%0D%9115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC16A rs76562693 0.0271565 0.0522 0.0695 1 0 0 exonic exonic exonic SEC16A SEC16A ENSG00000148396 synonymous SNV synonymous SNV unknown SEC16A:NM_014866:exon3:c.C1851T:p.H617H,SEC16A:NM_001276418:exon2:c.C1851T:p.H617H, SEC16A:uc010nbn.3:exon2:c.C1851T:p.H617H,SEC16A:uc004chx.3:exon3:c.C1851T:p.H617H,SEC16A:uc004chw.3:exon1:c.C1851T:p.H617H,SEC16A:uc010nbo.1:exon2:c.C1851T:p.H617H,SEC16A:uc004chv.4:exon1:c.C732T:p.H244H, UNKNOWN Het;G>A 2296;109|100 Het;G>A 1499;87|73 Hom;G>A 4675;5|181 N N - 9 139390397 139390397 C T snp UTR3 *126G>A NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3124591 0.741214 0 0 1 0 0 UTR3 UTR3 UTR3 NOTCH1(NM_017617:c.*126G>A) NOTCH1(uc004chz.3:c.*126G>A) ENSG00000148400(ENST00000277541:c.*126G>A) Na Na Na Na Na Na Het;C>T 120;11|5 Ref Hom;C>T 180;0|6 N N - 9 139391636 139391636 G A snp synonymous SNV C6555T D2185D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs2229974 0.695088 0.5813 0.6187 1 0 0 exonic exonic exonic NOTCH1 NOTCH1 ENSG00000148400 synonymous SNV synonymous SNV unknown NOTCH1:NM_017617:exon34:c.C6555T:p.D2185D, NOTCH1:uc004chz.3:exon34:c.C6555T:p.D2185D, UNKNOWN Het;G>A 1787;59|78 Het;G>A 1745;60|79 Hom;G>A 4084;0|148 N N - 9 139395311 139395311 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs11574908 0.0383387 0.0601 0.0965 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 519;25|25 Het;G>A 263;9|12 Hom;G>A 977;2|35 N N - 9 139396408 139396408 A G snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3124594 0.741613 0.6110 0.5920 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;A>G 2164;77|95 Het;A>G 1105;54|55 Hom;A>G 4877;0|177 N N - 9 139397707 139397707 G A snp synonymous SNV C5094T D1698D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs10521 0.553514 0.4080 0.4443 1 0 0 exonic exonic exonic NOTCH1 NOTCH1 ENSG00000148400 synonymous SNV synonymous SNV unknown NOTCH1:NM_017617:exon27:c.C5094T:p.D1698D, NOTCH1:uc004cia.1:exon14:c.C2784T:p.D928D,NOTCH1:uc004chz.3:exon27:c.C5094T:p.D1698D, UNKNOWN Het;G>A 1990;105|89 Het;G>A 2118;76|98 Hom;G>A 4529;0|162 N N - 9 139400904 139400904 C T snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs4880098 0.570887 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;C>T 164;14|7 Het;C>T 303;6|14 Hom;C>T 522;0|19 N N - 9 139401504 139401504 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3124596 0.683906 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 501;26|20 Het;G>A 419;19|16 Hom;G>A 654;0|18 N N - 9 139401577 139401577 C G snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3829116 0.572284 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;C>G 378;8|11 Het;C>G 201;2|7 Hom;C>G 217;0|6 N N - 9 139402663 139402663 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3124597 0.767173 0.6584 0.6351 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 1860;43|77 Het;T>C 1503;67|70 Hom;T>C 3958;0|148 N N - 9 139402908 139402908 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3812603 0.761382 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 288;15|12 Het;T>C 161;11|8 Hom;T>C 645;0|23 N N - 9 139402959 139402959 A G snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3812604 0.660543 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;A>G 196;4|6 Het;A>G 37;4|2 Hom;A>G 107;0|4 N N - 9 139403240 139403240 T TG indel intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs35987207 0.635783 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;+G 63;6|4 Het;+G 99;4|5 Hom;+G 256;0|9 N N - 9 139403268 139403268 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3125000 0.761981 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 177;10|7 Het;T>C 188;6|6 Hom;T>C 334;0|11 N N - 9 139403554 139403554 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3124598 0.764776 0.6690 0.6627 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 1418;70|67 Het;T>C 1203;57|59 Hom;T>C 2580;0|101 N N - 9 139405261 139405261 C T snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3125001 0.585463 0.4549 0.4725 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;C>T 1302;60|59 Het;C>T 1115;50|55 Hom;C>T 3345;0|126 N N - 9 139405361 139405361 A G snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3125002 0.721246 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;A>G 657;19|21 Het;A>G 422;10|15 Hom;A>G 1041;0|32 N N - 9 139405501 139405501 A G snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs9411206 0.750399 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;A>G 462;18|17 Het;A>G 168;8|8 Hom;A>G 581;0|18 N N - 9 139405530 139405530 C T snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs11574894 0.0205671 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;C>T 731;27|33 Het;C>T 288;13|14 Hom;C>T 1102;0|35 N N - 9 139407452 139407452 C T snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3812608 0.697284 0.5815 0.6279 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;C>T 193;15|11 Het;C>T 317;10|14 Hom;C>T 372;0|18 N N - 9 139407932 139407932 A G snp synonymous SNV T2265C N755N polar,hydrophilic,neutral polar,hydrophilic,neutral NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs2229971 0.527756 0.3975 0.3977 1 0 0 exonic exonic exonic NOTCH1 NOTCH1 ENSG00000148400 synonymous SNV synonymous SNV unknown NOTCH1:NM_017617:exon14:c.T2265C:p.N755N, NOTCH1:uc004chz.3:exon14:c.T2265C:p.N755N, UNKNOWN Het;A>G 2662;139|119 Het;A>G 2502;121|119 Hom;A>G 5879;0|222 N N - 9 139409648 139409648 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs62579232 0.283746 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 257;7|10 Het;G>A 126;5|5 Hom;G>A 318;0|9 N N - 9 139410177 139410177 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3124603 0.58726 0.3961 0.4361 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 620;41|28 Het;T>C 740;41|35 Hom;T>C 1567;3|57 N N - 9 139410679 139410679 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs4880100 0.582468 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 396;15|14 Het;T>C 316;6|12 Hom;T>C 600;0|17 N N - 9 139411374 139411374 A G snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3125007 0.572484 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;A>G 44;4|2 Ref Hom;A>G 63;0|3 N N - 9 139411619 139411619 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs11574887 0.0365415 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 331;18|9 Het;G>A 286;11|9 Hom;G>A 591;0|14 N N - 9 139411622 139411622 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs10781498 0.544928 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 353;18|12 Het;G>A 286;11|9 Hom;G>A 591;0|14 N N - 9 139411714 139411714 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs11145767 0.605431 0.4280 0.5481 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 1598;61|66 Het;T>C 1256;56|56 Hom;T>C 2453;0|90 N N - 9 139411880 139411880 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs9411254 0.525559 0.3620 0.4303 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 1579;46|68 Het;G>A 828;55|41 Hom;G>A 1783;0|68 N N - 9 139412073 139412073 T C snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs4077029 0.745208 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;T>C 690;9|22 Het;T>C 493;10|15 Hom;T>C 701;0|19 N N - 9 139412197 139412197 G A snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs9411208 0.696286 0.5544 0.5768 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;G>A 2615;122|112 Het;G>A 1834;66|81 Hom;G>A 4696;4|176 N N - 9 139412884 139412884 C T snp intronic NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs3125009 0.525559 0 0 1 0 0 intronic intronic intronic NOTCH1 NOTCH1 ENSG00000148400 Na Na Na Na Na Na Het;C>T 474;8|15 Het;C>T 207;6|7 Hom;C>T 395;0|11 N N - 9 139418260 139418260 A G snp synonymous SNV T312C N104N polar,hydrophilic,neutral polar,hydrophilic,neutral NOTCH1 Notch1 ENSG00000148400 notch 1 chr9:139388896-139440314 This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] Type 2 diabetes; hair thickness; healthy oldest-old; Lymphoma, T-Cell|Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Tetralogy of Fallot; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; T-cell malignancies; Chronic renal failure|Kidney Failure, Chronic; Schizophrenia; Bone Mineral Density; Leukemia, Myeloid, Acute|Multiple Myeloma|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; leukemia; Pancreatic Neoplasms Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. RUNX3 regulates NOTCH signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001708;cell fate specification;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0001889;liver development;IEA|GO:0001947;heart looping;IEA|GO:0002040;sprouting angiogenesis;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0002437;inflammatory response to antigenic stimulus;IEA|GO:0003157;endocardium development;IEA|GO:0003160;endocardium morphogenesis;IEA|GO:0003162;atrioventricular node development;IEA|GO:0003169;coronary vein morphogenesis;IEA|GO:0003180;aortic valve morphogenesis;IMP|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003184;pulmonary valve morphogenesis;IMP|GO:0003192;mitral valve formation;IMP|GO:0003197;endocardial cushion development;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003207;cardiac chamber formation;IEA|GO:0003208;cardiac ventricle morphogenesis;IEA|GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003213;cardiac right atrium morphogenesis;IEA|GO:0003214;cardiac left ventricle morphogenesis;IEA|GO:0003219;cardiac right ventricle formation;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003256;regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;IEA|GO:0003264;regulation of cardioblast proliferation;IEA|GO:0003270;Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation;IEA|GO:0003273;cell migration involved in endocardial cushion formation;IEA|GO:0003344;pericardium morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006955;immune response;NAS|GO:0006959;humoral immune response;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007386;compartment pattern specification;IEA|GO:0007409;axonogenesis;IEA|GO:0007420;brain development;IEA|GO:0007440;foregut morphogenesis;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IMP|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0008544;epidermis development;IEA|GO:0008593;regulation of Notch signaling pathway;IEA|GO:0009912;auditory receptor cell fate commitment;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010812;negative regulation of cell-substrate adhesion;IDA|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0014031;mesenchymal cell development;IEA|GO:0014807;regulation of somitogenesis;IEA|GO:0021515;cell differentiation in spinal cord;IEA|GO:0021915;neural tube development;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0030324;lung development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030334;regulation of cell migration;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030513;positive regulation of BMP signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030900;forebrain development;IEA|GO:0031069;hair follicle morphogenesis;IEA|GO:0031100;animal organ regeneration;IEA|GO:0031960;response to corticosteroid;IEA|GO:0032495;response to muramyl dipeptide;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035148;tube formation;IMP|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035924;cellular response to vascular endothelial growth factor stimulus;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042246;tissue regeneration;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043086;negative regulation of catalytic activity;IEA|GO:0045070;positive regulation of viral genome replication;IEA|GO:0045165;cell fate commitment;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IEA|GO:0045607;regulation of auditory receptor cell differentiation;IEA|GO:0045608;negative regulation of auditory receptor cell differentiation;IEA|GO:0045618;positive regulation of keratinocyte differentiation;IEA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045687;positive regulation of glial cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046533;negative regulation of photoreceptor cell differentiation;IEA|GO:0048103;somatic stem cell division;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048711;positive regulation of astrocyte differentiation;IEA|GO:0048715;negative regulation of oligodendrocyte differentiation;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048845;venous blood vessel morphogenesis;IEA|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050793;regulation of developmental process;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0060271;cilium assembly;ISS|GO:0060317;cardiac epithelial to mesenchymal transition;IEA|GO:0060411;cardiac septum morphogenesis;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060740;prostate gland epithelium morphogenesis;IEA|GO:0060768;regulation of epithelial cell proliferation involved in prostate gland development;IEA|GO:0060842;arterial endothelial cell differentiation;IEA|GO:0060843;venous endothelial cell differentiation;IEA|GO:0060948;cardiac vascular smooth muscle cell development;IEA|GO:0060956;endocardial cell differentiation;IEA|GO:0060979;vasculogenesis involved in coronary vascular morphogenesis;IEA|GO:0060982;coronary artery morphogenesis;IEA|GO:0061314;Notch signaling involved in heart development;IMP|GO:0061384;heart trabecula morphogenesis;IEA|GO:0061419;positive regulation of transcription from RNA polymerase II promoter in response to hypoxia;IEA|GO:0070986;left/right axis specification;IEA|GO:0071372;cellular response to follicle-stimulating hormone stimulus;IDA|GO:0072017;distal tubule development;IEA|GO:0072044;collecting duct development;IEA|GO:0072144;glomerular mesangial cell development;IEA|GO:0072602;interleukin-4 secretion;IEA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:0097150;neuronal stem cell population maintenance;IEP|GO:1901201;regulation of extracellular matrix assembly;IEA|GO:1902263;apoptotic process involved in embryonic digit morphogenesis;IEA|GO:1903849;positive regulation of aorta morphogenesis;IEA|GO:2000737;negative regulation of stem cell differentiation;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2000974;negative regulation of pro-B cell differentiation;IEA|GO:2001027;negative regulation of endothelial cell chemotaxis;IDA GO:0000139;Golgi membrane;TAS|GO:0001669;acrosomal vesicle;IEA|GO:0002193;MAML1-RBP-Jkappa- ICN1 complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043235;receptor complex;IDA|GO:0071944;cell periphery;IEA GO:0001047;core promoter binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0004857;enzyme inhibitor activity;IEA|GO:0004872;receptor activity;IEA|GO:0005112;Notch binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOTCH1 https://www.uniprot.org/uniprot/P46531 https://hpo.jax.org/app/browse/search?q=NOTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190198 http://www.informatics.jax.org/searchtool/Search.do?query=NOTCH1&submit=Quick%0D%181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOTCH1 rs4489420 0.740016 0.6087 0.5970 1 0 0 exonic exonic exonic NOTCH1 NOTCH1 ENSG00000148400 synonymous SNV synonymous SNV unknown NOTCH1:NM_017617:exon3:c.T312C:p.N104N, NOTCH1:uc004chz.3:exon3:c.T312C:p.N104N, UNKNOWN Het;A>G 1656;94|76 Het;A>G 821;76|41 Hom;A>G 3879;0|144 N N - 9 139442389 139442389 A T snp ncRNA_exonic LINC01573 rs192843679 0.00738818 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01573 AX747706 ENSG00000237886 Na Na Na Na Na Na Het;A>T 2137;74|87 Het;A>T 1456;58|65 Hom;A>T 4043;0|144 N N - 9 139521079 139521102 CGGGGCAGGGGTGGGGGCAGGGCG C indel intergenic LINC01573 rs57506833 0 0 0 1 0 0 intergenic intergenic intergenic LINC01573(dist=76883),EGFL7(dist=36277) AX747706(dist=76884),AF161442(dist=21960) ENSG00000252440(dist=24017),ENSG00000228401(dist=21960) Na Na Na Na Na Na Het;-GGGGCAGGGGTGGGGGCAGGGCG 161;4|5 Het;-GGGGCAGGGGTGGGGGCAGGGCG 60;2|3 Hom;-GGGGCAGGGGTGGGGGCAGGGCG 266;0|7 N N - 9 139553723 139553723 C T snp ncRNA_intronic AF161442 rs9411259 0.78734 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic LINC01573(dist=109527),EGFL7(dist=3656) AF161442 ENSG00000228401 Na Na Na Na Na Na Het;C>T 1353;52|60 Het;C>T 664;33|30 Hom;C>T 2463;0|88 N N - 9 139554755 139554755 G C snp ncRNA_intronic AF161442 rs944753 0.901957 0 0 1 0 0 intergenic ncRNA_intronic ncRNA_intronic LINC01573(dist=110559),EGFL7(dist=2624) AF161442 ENSG00000228401 Na Na Na Na Na Na Het;G>C 579;20|25 Het;G>C 553;35|26 Hom;G>C 1945;0|69 N N - 9 139559127 139559127 A G snp intronic EGFL7 Egfl7 ENSG00000172889 EGF like domain multiple 7 chr9:139553308-139567130 This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit some embryonic lethality with absent heartbeat and systemic edema, delayed vasculogenesis, decreased angiogenesis, abnormal adult vasculature, and low-level hypoxia. Mice homozygous for a null allele that does not disrupt Mirn126 expression are normal. GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;ISS|GO:0001570;vasculogenesis;ISS|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EGFL7 https://www.ncbi.nlm.nih.gov/omim/?term=608582 http://www.informatics.jax.org/searchtool/Search.do?query=EGFL7&submit=Quick%0D%13252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFL7 rs7041558 0.632588 0 0 1 0 0 intronic intronic intronic EGFL7 EGFL7 ENSG00000172889 Na Na Na Na Na Na Het;A>G 654;28|31 Het;A>G 483;41|27 Hom;A>G 1375;0|53 N N - 9 139564474 139564474 C G snp intronic EGFL7 Egfl7 ENSG00000172889 EGF like domain multiple 7 chr9:139553308-139567130 This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit some embryonic lethality with absent heartbeat and systemic edema, delayed vasculogenesis, decreased angiogenesis, abnormal adult vasculature, and low-level hypoxia. Mice homozygous for a null allele that does not disrupt Mirn126 expression are normal. GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;ISS|GO:0001570;vasculogenesis;ISS|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EGFL7 https://www.ncbi.nlm.nih.gov/omim/?term=608582 http://www.informatics.jax.org/searchtool/Search.do?query=EGFL7&submit=Quick%0D%13252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFL7 rs2297537 0.264976 0.3517 0.4264 1 0 0 intronic intronic intronic EGFL7 EGFL7 ENSG00000172889 Na Na Na Na Na Na Het;C>G 695;7|29 Het;C>G 395;13|18 Hom;C>G 687;0|25 N N - 9 139565150 139565150 A G snp UTR5 -266A>G EGFL7 Egfl7 ENSG00000172889 EGF like domain multiple 7 chr9:139553308-139567130 This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit some embryonic lethality with absent heartbeat and systemic edema, delayed vasculogenesis, decreased angiogenesis, abnormal adult vasculature, and low-level hypoxia. Mice homozygous for a null allele that does not disrupt Mirn126 expression are normal. GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;ISS|GO:0001570;vasculogenesis;ISS|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EGFL7 https://www.ncbi.nlm.nih.gov/omim/?term=608582 http://www.informatics.jax.org/searchtool/Search.do?query=EGFL7&submit=Quick%0D%13252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFL7 rs4636297 0.694289 0.6349 0.6686 1 0 0 intronic UTR5 intronic EGFL7 EGFL7(uc031tfu.1:c.-266A>G) ENSG00000172889 Na Na Na Na Na Na Het;A>G 233;9|12 Het;A>G 200;7|11 Hom;A>G 524;0|19 N N - 9 139566823 139566823 A G snp UTR3 *85A>G EGFL7 Egfl7 ENSG00000172889 EGF like domain multiple 7 chr9:139553308-139567130 This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit some embryonic lethality with absent heartbeat and systemic edema, delayed vasculogenesis, decreased angiogenesis, abnormal adult vasculature, and low-level hypoxia. Mice homozygous for a null allele that does not disrupt Mirn126 expression are normal. GO:0001525;angiogenesis;IEA|GO:0001568;blood vessel development;ISS|GO:0001570;vasculogenesis;ISS|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EGFL7 https://www.ncbi.nlm.nih.gov/omim/?term=608582 http://www.informatics.jax.org/searchtool/Search.do?query=EGFL7&submit=Quick%0D%13252ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EGFL7 rs1051828 0.879792 0.8752 0 1 0 0 UTR3 UTR3 UTR3 EGFL7(NM_016215:c.*85A>G,NM_201446:c.*85A>G) EGFL7(uc004cid.3:c.*85A>G,uc010nbp.3:c.*85A>G,uc004cie.3:c.*85A>G,uc004cif.3:c.*85A>G,uc004cih.3:c.*85A>G,uc031tfu.1:c.*85A>G) ENSG00000172889(ENST00000371699:c.*85A>G,ENST00000308874:c.*85A>G,ENST00000406555:c.*85A>G,ENST00000371698:c.*85A>G) Na Na Na Na Na Na Het;A>G 1772;103|76 Het;A>G 1425;89|67 Hom;A>G 3242;0|114 N N - 9 139567762 139567762 G C snp UTR3 *442C>G AGPAT2 Agpat2 ENSG00000169692 1-acylglycerol-3-phosphate O-acyltransferase 2 chr9:139567595-139581875 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1 Mice homozygous for a knock-out allele exhibit loss of white and brown adipose tissue, insulin resistance, and hepatic steatosis. Neutrophil degranulation GO:0001819;positive regulation of cytokine production;IMP|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IC|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;NAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGPAT2 https://hpo.jax.org/app/browse/search?q=AGPAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603100 http://www.informatics.jax.org/searchtool/Search.do?query=AGPAT2&submit=Quick%0D%12545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGPAT2 rs6951 0.803315 0 0 1 0 0 UTR3 UTR3 UTR3 AGPAT2(NM_006412:c.*442C>G,NM_001012727:c.*442C>G) AGPAT2(uc004cii.1:c.*442C>G,uc004cij.1:c.*442C>G) ENSG00000169692(ENST00000371696:c.*442C>G,ENST00000371694:c.*442C>G) Na Na Na Na Na Na Het;G>C 318;28|19 Het;G>C 132;16|8 Hom;G>C 1135;0|45 N N - 9 139568047 139568047 G A snp UTR3 *157C>T AGPAT2 Agpat2 ENSG00000169692 1-acylglycerol-3-phosphate O-acyltransferase 2 chr9:139567595-139581875 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1 Mice homozygous for a knock-out allele exhibit loss of white and brown adipose tissue, insulin resistance, and hepatic steatosis. Neutrophil degranulation GO:0001819;positive regulation of cytokine production;IMP|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IC|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;NAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGPAT2 https://hpo.jax.org/app/browse/search?q=AGPAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603100 http://www.informatics.jax.org/searchtool/Search.do?query=AGPAT2&submit=Quick%0D%12545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGPAT2 rs4880119 0.800519 0 0 1 0 0 UTR3 UTR3 UTR3 AGPAT2(NM_006412:c.*157C>T,NM_001012727:c.*157C>T) AGPAT2(uc004cii.1:c.*157C>T,uc004cij.1:c.*157C>T) ENSG00000169692(ENST00000371696:c.*157C>T,ENST00000371694:c.*157C>T,ENST00000538402:c.*157C>T) Na Na Na Na Na Na Het;G>A 493;23|22 Het;G>A 685;30|32 Hom;G>A 1459;0|58 N N - 9 139569066 139569066 A G snp intronic AGPAT2 Agpat2 ENSG00000169692 1-acylglycerol-3-phosphate O-acyltransferase 2 chr9:139567595-139581875 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1 Mice homozygous for a knock-out allele exhibit loss of white and brown adipose tissue, insulin resistance, and hepatic steatosis. Neutrophil degranulation GO:0001819;positive regulation of cytokine production;IMP|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IC|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;NAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGPAT2 https://hpo.jax.org/app/browse/search?q=AGPAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603100 http://www.informatics.jax.org/searchtool/Search.do?query=AGPAT2&submit=Quick%0D%12545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGPAT2 rs9411215 0.719249 0 0 1 0 0 intronic intronic intronic AGPAT2 AGPAT2 ENSG00000169692 Na Na Na Na Na Na Het;A>G 336;8|16 Het;A>G 195;7|8 Hom;A>G 463;0|16 N N - 9 139572068 139572068 C G snp intronic AGPAT2 Agpat2 ENSG00000169692 1-acylglycerol-3-phosphate O-acyltransferase 2 chr9:139567595-139581875 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1 Mice homozygous for a knock-out allele exhibit loss of white and brown adipose tissue, insulin resistance, and hepatic steatosis. Neutrophil degranulation GO:0001819;positive regulation of cytokine production;IMP|GO:0001961;positive regulation of cytokine-mediated signaling pathway;IC|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;NAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008544;epidermis development;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS GO:0003841;1-acylglycerol-3-phosphate O-acyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGPAT2 https://hpo.jax.org/app/browse/search?q=AGPAT2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603100 http://www.informatics.jax.org/searchtool/Search.do?query=AGPAT2&submit=Quick%0D%12545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGPAT2 rs2236514 0.628195 0 0 1 0 0 intronic intronic intronic AGPAT2 AGPAT2 ENSG00000169692 Na Na Na Na Na Na Het;C>G 120;4|6 Het;C>G 134;11|6 Hom;C>G 234;0|7 N N - 9 139618076 139618076 C T snp synonymous SNV C1146T P382P hydrophobic,neutral hydrophobic,neutral FAM69B Fam69b ENSG00000165716 family with sequence similarity 69 member B chr9:139607022-139618502 This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM69B https://www.ncbi.nlm.nih.gov/omim/?term=614543 http://www.informatics.jax.org/searchtool/Search.do?query=FAM69B&submit=Quick%0D%11611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM69B rs149254034 0.00259585 0.0054 0.0042 1 0 0 exonic exonic exonic FAM69B FAM69B ENSG00000165716 synonymous SNV synonymous SNV unknown FAM69B:NM_152421:exon5:c.C1146T:p.P382P, FAM69B:uc004cik.3:exon5:c.C1146T:p.P382P,FAM69B:uc004cil.3:exon3:c.C885T:p.P295P, UNKNOWN Het;C>T 2012;37|76 Het;C>T 1262;39|56 Hom;C>T 2936;0|104 N N - 9 139620101 139620101 C T snp ncRNA_exonic SNHG7 rs143700669 0.000798722 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic SNHG7 SNHG7 ENSG00000233016 Na Na Na Na Na Na Het;C>T 2771;149|124 Het;C>T 2593;127|123 Hom;C>T 7224;0|273 N N - 9 139639532 139639571 CGGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT C indel intronic LCN6 Lcn6 ENSG00000267206 lipocalin 6 chr9:139638463-139642980 Mice with loss of expression in the testes show premature acrosome reaction and elevated intracellular calcium levels in sperm. GO:0007338;single fertilization;IEA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LCN6 https://www.ncbi.nlm.nih.gov/omim/?term=609379 http://www.informatics.jax.org/searchtool/Search.do?query=LCN6&submit=Quick%0D%20649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN6 rs145717467 0.54353 0 0 1 0 0 intronic intronic intronic LCN6 LCN6 ENSG00000204003,ENSG00000267206 Na Na Na Na Na Na Het;-GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT 1077;48|33 Het;-GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT 936;28|26 Hom;-GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT 1220;0|29 N N - 9 139642961 139642961 G A snp ncRNA_exonic LOC100128593 rs2811728 0.445487 0.4033 0.5133 1 0 0 ncRNA_exonic ncRNA_exonic UTR5 LOC100128593 LOC100128593 ENSG00000267206(ENST00000341206:c.-26C>T) Na Na Na Na Na Na Het;G>A 3051;93|129 Het;G>A 2370;54|104 Hom;G>A 5434;0|202 N N - 9 139643531 139643531 G T snp ncRNA_exonic LOC100128593 rs945379 0.545327 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream LOC100128593 LOC100128593 ENSG00000204003,ENSG00000267206 Na Na Na Na Na Na Het;G>T 1155;56|57 Het;G>T 910;47|41 Hom;G>T 2364;0|86 N N - 9 139643832 139643832 C T snp ncRNA_exonic LOC100128593 rs2784071 0.53095 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream LOC100128593 LOC100128593 ENSG00000204003,ENSG00000267206 Na Na Na Na Na Na Het;C>T 2051;78|84 Het;C>T 1467;73|68 Hom;C>T 3039;0|102 N N - 9 139649580 139649580 G A snp intronic LCN8 Lcn8 ENSG00000204001 lipocalin 8 chr9:139648838-139652678 Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LCN8 https://www.ncbi.nlm.nih.gov/omim/?term=612902 http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8 rs879467 0.540136 0.5753 0.6704 1 0 0 intronic intronic intronic LCN8 LCN8 ENSG00000204001 Na Na Na Na Na Na Het;G>A 500;23|22 Het;G>A 464;14|20 Hom;G>A 936;0|33 N N - 9 139650060 139650060 C A snp intronic LCN8 Lcn8 ENSG00000204001 lipocalin 8 chr9:139648838-139652678 Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LCN8 https://www.ncbi.nlm.nih.gov/omim/?term=612902 http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8 rs2784068 0.544329 0 0 1 0 0 intronic intronic intronic LCN8 LCN8 ENSG00000204001 Na Na Na Na Na Na Het;C>A 471;24|19 Het;C>A 540;31|25 Hom;C>A 835;0|28 N N - 9 139652338 139652338 C G snp intronic LCN8 Lcn8 ENSG00000204001 lipocalin 8 chr9:139648838-139652678 Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] GO:0006810;transport;IEA|GO:0009725;response to hormone;IEA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LCN8 https://www.ncbi.nlm.nih.gov/omim/?term=612902 http://www.informatics.jax.org/searchtool/Search.do?query=LCN8&submit=Quick%0D%17180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN8 rs9411272 0.54373 0.5792 0.6225 1 0 0 intronic intronic intronic LCN8 LCN8 ENSG00000204001 Na Na Na Na Na Na Het;C>G 1064;31|50 Het;C>G 497;50|27 Hom;C>G 1472;0|57 N N - 9 139685722 139685722 T C snp upstream TMEM141 Tmem141 ENSG00000244187 transmembrane protein 141 chr9:139685807-139687709 GO:0003341;cilium movement;IBA|GO:0036158;outer dynein arm assembly;IBA GO:0005930;axoneme;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM141 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM141&submit=Quick%0D%19833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM141 rs2784043 0.505391 0 0 1 0 0 upstream upstream upstream TMEM141 TMEM141 ENSG00000244187,ENSG00000272896 Na Na Na Na Na Na Het;T>C 549;4|20 Het;T>C 223;8|9 Hom;T>C 276;0|9 N N - 9 139686247 139686247 G A snp intronic TMEM141 Tmem141 ENSG00000244187 transmembrane protein 141 chr9:139685807-139687709 GO:0003341;cilium movement;IBA|GO:0036158;outer dynein arm assembly;IBA GO:0005930;axoneme;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM141 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM141&submit=Quick%0D%19833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM141 rs3739950 0.138379 0.1484 0.1798 1 0 0 intronic intronic intronic TMEM141 TMEM141 ENSG00000244187,ENSG00000272896 Na Na Na Na Na Na Het;G>A 1837;76|86 Het;G>A 1101;44|52 Hom;G>A 2871;0|106 N N - 9 139686357 139686357 T C snp intronic TMEM141 Tmem141 ENSG00000244187 transmembrane protein 141 chr9:139685807-139687709 GO:0003341;cilium movement;IBA|GO:0036158;outer dynein arm assembly;IBA GO:0005930;axoneme;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM141 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM141&submit=Quick%0D%19833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM141 rs2784042 0.515974 0.5523 0.5061 1 0 0 intronic intronic intronic TMEM141 TMEM141 ENSG00000244187,ENSG00000272896 Na Na Na Na Na Na Het;T>C 964;31|32 Het;T>C 591;13|23 Hom;T>C 970;0|29 N N - 9 139693596 139693596 T C snp nonsynonymous SNV T113C M38T hydrophobic,neutral polar,hydrophilic,neutral KIAA1984 rs945386 0.273363 0.2443 0.2374 0.08 1 13 exonic exonic exonic CCDC183 KIAA1984 ENSG00000213213,ENSG00000272896 nonsynonymous SNV nonsynonymous SNV unknown CCDC183:NM_001039374:exon2:c.T113C:p.M38T, KIAA1984:uc004cjf.3:exon2:c.T113C:p.M38T, UNKNOWN Het;T>C 1411;61|63 Het;T>C 1246;53|59 Hom;T>C 3050;1|118 N N - 9 139694276 139694276 C T snp ncRNA_intronic AL355987.4 rs4442241 0.14377 0.1515 0.2025 1 0 0 intronic intronic ncRNA_intronic CCDC183 KIAA1984 ENSG00000273066 Na Na Na Na Na Na Het;C>T 671;19|29 Het;C>T 591;21|32 Hom;C>T 1313;0|47 N N - 9 139694521 139694521 T G snp nonsynonymous SNV T338G L113R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) KIAA1984 rs4546744 0.264976 0.2209 0.3144 0.50 6 12 exonic exonic exonic CCDC183 KIAA1984 ENSG00000213213,ENSG00000272896 nonsynonymous SNV nonsynonymous SNV unknown CCDC183:NM_001039374:exon4:c.T338G:p.L113R, KIAA1984:uc004cjf.3:exon4:c.T338G:p.L113R, UNKNOWN Het;T>G 1327;51|60 Het;T>G 953;47|47 Hom;T>G 2649;3|104 N N - 9 139694569 139694569 A C snp nonsynonymous SNV A386C D129A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral KIAA1984 rs7859194 0.27476 0.2090 0.2694 0.08 1 13 exonic exonic exonic CCDC183 KIAA1984 ENSG00000213213,ENSG00000272896 nonsynonymous SNV nonsynonymous SNV unknown CCDC183:NM_001039374:exon4:c.A386C:p.D129A, KIAA1984:uc004cjf.3:exon4:c.A386C:p.D129A, UNKNOWN Het;A>C 1469;35|60 Het;A>C 870;39|40 Hom;A>C 1894;3|71 N N - 9 139837700 139837701 AC A indel intronic FBXW5 Fbxw5 ENSG00000159069 F-box and WD repeat domain containing 5 chr9:139834887-139839148 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0007088;regulation of mitotic nuclear division;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0016567;protein ubiquitination;IDA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXW5 https://www.ncbi.nlm.nih.gov/omim/?term=609072 http://www.informatics.jax.org/searchtool/Search.do?query=FBXW5&submit=Quick%0D%10279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW5 rs11339872 0 0 0 1 0 0 intronic intronic intronic FBXW5 FBXW5 ENSG00000159069 Na Na Na Na Na Na Het;-C 97;12|9 Ref Hom;-C 222;0|9 N N - 9 139837990 139837990 G C snp intronic FBXW5 Fbxw5 ENSG00000159069 F-box and WD repeat domain containing 5 chr9:139834887-139839148 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0007088;regulation of mitotic nuclear division;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0016567;protein ubiquitination;IDA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA|GO:0080008;Cul4-RING E3 ubiquitin ligase complex;IDA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXW5 https://www.ncbi.nlm.nih.gov/omim/?term=609072 http://www.informatics.jax.org/searchtool/Search.do?query=FBXW5&submit=Quick%0D%10279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW5 rs2271872 0.650958 0.5751 0.5844 1 0 0 intronic intronic intronic FBXW5 FBXW5 ENSG00000159069 Na Na Na Na Na Na Het;G>C 491;43|23 Het;G>C 299;19|15 Hom;G>C 1178;0|46 N N - 9 13986133 13986133 G C snp upstream PES1P2 rs17278798 0.167931 0 0 1 0 0 intergenic intergenic upstream LINC00583(dist=40527),NFIB(dist=95709) LINC00583(dist=40527),NFIB(dist=95709) ENSG00000229268 Na Na Na Na Na Na Het;G>C 65;10|4 Het;G>C 120;5|5 Hom;G>C 205;0|8 N N - 9 13986757 13986757 C T snp ncRNA_exonic PES1P2 rs755267 0.477636 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00583(dist=41151),NFIB(dist=95085) LINC00583(dist=41151),NFIB(dist=95085) ENSG00000229268 Na Na Na Na Na Na Het;C>T 225;7|9 Het;C>T 242;9|13 Hom;C>T 479;0|16 N N - 9 13987261 13987261 C G snp ncRNA_exonic PES1P2 rs870408 0.176518 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC00583(dist=41655),NFIB(dist=94581) LINC00583(dist=41655),NFIB(dist=94581) ENSG00000229268 Na Na Na Na Na Na Het;C>G 322;15|13 Het;C>G 184;10|8 Hom;C>G 776;0|24 N N - 9 139877902 139877902 G C snp UTR5 -137G>C LCNL1 ENSG00000214402 lipocalin like 1 chr9:139876356-139880862 http://www.genecards.org/index.php?path=/Search/keyword/LCNL1 http://www.informatics.jax.org/searchtool/Search.do?query=LCNL1&submit=Quick%0D%18240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCNL1 rs566733464 0.000599042 0 0 1 0 0 UTR5 UTR5 UTR5 LCNL1(NM_207510:c.-137G>C) LCNL1(uc004ckh.1:c.-137G>C) ENSG00000214402(ENST00000482657:c.-137G>C,ENST00000408973:c.-137G>C,ENST00000460177:c.-137G>C) Na Na Na Na Na Na Het;G>C 129;9|5 Het;G>C 152;3|5 Hom;G>C 135;0|4 N N - 9 139887298 139887298 C CT indel intronic C9orf142 BC029214 ENSG00000148362 PAXX, non-homologous end joining factor chr9:139886870-139888436 The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016] Mice homozygous for a knock-out allele are viable, developmentally normal and fertile but show increased mortality induced by ionizing radiation and a mild reduction in splenic lymphocyte numbers. GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;IMP|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0051103;DNA ligation involved in DNA repair;IMP GO:0005634;nucleus;IDA|GO:0035861;site of double-strand break;IDA|GO:0043564;Ku70:Ku80 complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0070419;nonhomologous end joining complex;IDA GO:0005515;protein binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/C9orf142 https://www.uniprot.org/uniprot/Q9BUH6 https://www.ncbi.nlm.nih.gov/omim/?term=616315 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf142&submit=Quick%0D%9111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf142 rs3833710 0.10623 0 0 1 0 0 intronic intronic intronic C9orf142 C9orf142 ENSG00000148362 Na Na Na Na Na Na Het;+T 955;34|31 Het;+T 908;16|30 Hom;+T 1320;0|37 N N - 9 139905141 139905141 G A snp synonymous SNV C6105T A2035A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA2 Abca2 ENSG00000107331 ATP binding cassette subfamily A member 2 chr9:139901686-139923367 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; drug-related genes ; Alzheimer's disease ; dementia Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, ABC transporters in lipid homeostasis GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0032383;regulation of intracellular cholesterol transport;IMP|GO:0042493;response to drug;TAS|GO:0042632;cholesterol homeostasis;IEP|GO:0048545;response to steroid hormone;IEP|GO:0055085;transmembrane transport;IEA GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;ISS|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0031410;cytoplasmic vesicle;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;NAS GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;NAS http://www.genecards.org/index.php?path=/Search/keyword/ABCA2 https://www.uniprot.org/uniprot/Q9BZC7 https://www.ncbi.nlm.nih.gov/omim/?term=600047 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA2&submit=Quick%0D%3599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA2 rs112887513 0.0656949 0.0528 0.0695 1 0 0 exonic exonic exonic ABCA2 ABCA2 ENSG00000107331 synonymous SNV synonymous SNV unknown ABCA2:NM_001606:exon40:c.C6105T:p.A2035A,ABCA2:NM_212533:exon40:c.C6195T:p.A2065A, ABCA2:uc004ckl.1:exon39:c.C5895T:p.A1965A,ABCA2:uc004ckm.1:exon40:c.C6192T:p.A2064A,ABCA2:uc022bpz.1:exon40:c.C6105T:p.A2035A,ABCA2:uc022bpy.1:exon39:c.C5895T:p.A1965A,ABCA2:uc011mem.1:exon39:c.C6102T:p.A2034A, UNKNOWN Het;G>A 1679;61|72 Het;G>A 1138;69|57 Hom;G>A 3823;0|142 N N - 9 139911983 139911983 T G snp synonymous SNV A2373C A791A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA2 Abca2 ENSG00000107331 ATP binding cassette subfamily A member 2 chr9:139901686-139923367 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; drug-related genes ; Alzheimer's disease ; dementia Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, ABC transporters in lipid homeostasis GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0032383;regulation of intracellular cholesterol transport;IMP|GO:0042493;response to drug;TAS|GO:0042632;cholesterol homeostasis;IEP|GO:0048545;response to steroid hormone;IEP|GO:0055085;transmembrane transport;IEA GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;ISS|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0031410;cytoplasmic vesicle;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;NAS GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;NAS http://www.genecards.org/index.php?path=/Search/keyword/ABCA2 https://www.uniprot.org/uniprot/Q9BZC7 https://www.ncbi.nlm.nih.gov/omim/?term=600047 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA2&submit=Quick%0D%3599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA2 rs12348881 0.104433 0.1292 0.0958 1 0 0 exonic exonic exonic ABCA2 ABCA2 ENSG00000107331 synonymous SNV synonymous SNV unknown ABCA2:NM_001606:exon17:c.A2373C:p.A791A,ABCA2:NM_212533:exon17:c.A2463C:p.A821A, ABCA2:uc004ckl.1:exon16:c.A2163C:p.A721A,ABCA2:uc004ckm.1:exon17:c.A2460C:p.A820A,ABCA2:uc022bpz.1:exon17:c.A2373C:p.A791A,ABCA2:uc022bpy.1:exon16:c.A2163C:p.A721A,ABCA2:uc011mem.1:exon16:c.A2370C:p.A790A, UNKNOWN Het;T>G 615;44|28 Het;T>G 589;36|26 Hom;T>G 1453;0|52 N N - 9 139912593 139912593 T C snp intronic ABCA2 Abca2 ENSG00000107331 ATP binding cassette subfamily A member 2 chr9:139901686-139923367 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; drug-related genes ; Alzheimer's disease ; dementia Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, ABC transporters in lipid homeostasis GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0032383;regulation of intracellular cholesterol transport;IMP|GO:0042493;response to drug;TAS|GO:0042632;cholesterol homeostasis;IEP|GO:0048545;response to steroid hormone;IEP|GO:0055085;transmembrane transport;IEA GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;ISS|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0031410;cytoplasmic vesicle;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;NAS GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;NAS http://www.genecards.org/index.php?path=/Search/keyword/ABCA2 https://www.uniprot.org/uniprot/Q9BZC7 https://www.ncbi.nlm.nih.gov/omim/?term=600047 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA2&submit=Quick%0D%3599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA2 rs13283333 0.100639 0.1275 0.0981 1 0 0 intronic intronic intronic ABCA2 ABCA2 ENSG00000107331 Na Na Na Na Na Na Het;T>C 935;41|37 Het;T>C 872;26|33 Hom;T>C 1338;0|45 N N - 9 139916833 139916833 T G snp synonymous SNV A537C A179A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABCA2 Abca2 ENSG00000107331 ATP binding cassette subfamily A member 2 chr9:139901686-139923367 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; drug-related genes ; Alzheimer's disease ; dementia Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, ABC transporters in lipid homeostasis GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006629;lipid metabolic process;NAS|GO:0006810;transport;IEA|GO:0032383;regulation of intracellular cholesterol transport;IMP|GO:0042493;response to drug;TAS|GO:0042632;cholesterol homeostasis;IEP|GO:0048545;response to steroid hormone;IEP|GO:0055085;transmembrane transport;IEA GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IDA|GO:0005815;microtubule organizing center;ISS|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA|GO:0031410;cytoplasmic vesicle;ISS|GO:0043190;ATP-binding cassette (ABC) transporter complex;NAS GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;NAS http://www.genecards.org/index.php?path=/Search/keyword/ABCA2 https://www.uniprot.org/uniprot/Q9BZC7 https://www.ncbi.nlm.nih.gov/omim/?term=600047 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA2&submit=Quick%0D%3599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA2 rs35590326 0.091853 0.1193 0.0947 1 0 0 exonic exonic exonic ABCA2 ABCA2 ENSG00000107331 synonymous SNV synonymous SNV unknown ABCA2:NM_001606:exon6:c.A537C:p.A179A,ABCA2:NM_212533:exon6:c.A627C:p.A209A, ABCA2:uc004ckl.1:exon5:c.A327C:p.A109A,ABCA2:uc010nca.3:exon3:c.A327C:p.A109A,ABCA2:uc004ckm.1:exon6:c.A624C:p.A208A,ABCA2:uc022bpz.1:exon6:c.A537C:p.A179A,ABCA2:uc022bpy.1:exon5:c.A327C:p.A109A,ABCA2:uc011mem.1:exon5:c.A534C:p.A178A, UNKNOWN Het;T>G 894;66|43 Het;T>G 796;41|33 Hom;T>G 1992;0|70 N N - 9 139925927 139925927 G C snp synonymous SNV C264G A88A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FUT7 Fut7 ENSG00000180549 fucosyltransferase 7 chr9:139924626-139927462 The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008] hypertension; bladder cancer; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice homozygous for disruptions in this gene are superficially normal. However, abnormalities are found in immune cell function and lymph node morphology. Redeuced tumor metastasis is also seen. GO:0002361;CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;IEA|GO:0002522;leukocyte migration involved in immune response;IEA|GO:0006486;protein glycosylation;IEA|GO:0036065;fucosylation;IEA|GO:0042355;L-fucose catabolic process;NAS GO:0000139;Golgi membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA GO:0008417;fucosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046920;alpha-(1->3)-fucosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FUT7 https://www.ncbi.nlm.nih.gov/omim/?term=602030 http://www.informatics.jax.org/searchtool/Search.do?query=FUT7&submit=Quick%0D%14497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FUT7 rs1139444 0.0834665 0.1020 0.0997 1 0 0 exonic exonic exonic FUT7 FUT7 ENSG00000180549 synonymous SNV synonymous SNV unknown FUT7:NM_004479:exon2:c.C264G:p.A88A, FUT7:uc004ckq.2:exon2:c.C264G:p.A88A, UNKNOWN Het;G>C 1193;71|51 Het;G>C 1026;55|43 Hom;G>C 1931;1|72 N N - 9 139925983 139925983 G A snp nonsynonymous SNV C208T R70C polar,hydrophilic,charged(+) polar,hydrophobic,neutral FUT7 Fut7 ENSG00000180549 fucosyltransferase 7 chr9:139924626-139927462 The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008] hypertension; bladder cancer; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice homozygous for disruptions in this gene are superficially normal. However, abnormalities are found in immune cell function and lymph node morphology. Redeuced tumor metastasis is also seen. GO:0002361;CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;IEA|GO:0002522;leukocyte migration involved in immune response;IEA|GO:0006486;protein glycosylation;IEA|GO:0036065;fucosylation;IEA|GO:0042355;L-fucose catabolic process;NAS GO:0000139;Golgi membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA GO:0008417;fucosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046920;alpha-(1->3)-fucosyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FUT7 https://www.ncbi.nlm.nih.gov/omim/?term=602030 http://www.informatics.jax.org/searchtool/Search.do?query=FUT7&submit=Quick%0D%14497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FUT7 rs117125309 0.0133786 0.0072 0.0162 0.50 6 12 exonic exonic exonic FUT7 FUT7 ENSG00000180549 nonsynonymous SNV nonsynonymous SNV unknown FUT7:NM_004479:exon2:c.C208T:p.R70C, FUT7:uc004ckq.2:exon2:c.C208T:p.R70C, UNKNOWN Het;G>A 989;75|48 Het;G>A 1065;51|46 Hom;G>A 2096;1|77 N N - 9 139929015 139929015 C G snp intronic C9orf139 rs9411293 0.254193 0 0 1 0 0 intronic intronic intronic C9orf139 C9orf139 ENSG00000180539 Na Na Na Na Na Na Het;C>G 204;6|8 Het;C>G 89;1|5 Hom;C>G 154;0|5 N N - 9 139929435 139929435 A G snp nonsynonymous SNV A502G K168E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) C9orf139 rs12337910 0.0884585 0.1174 0.0804 1 0 0 exonic exonic exonic C9orf139 C9orf139 ENSG00000180539 nonsynonymous SNV nonsynonymous SNV unknown C9orf139:NM_207511:exon3:c.A502G:p.K168E, C9orf139:uc004ckp.1:exon3:c.A502G:p.K168E, UNKNOWN Het;A>G 2184;73|81 Het;A>G 1479;62|65 Hom;A>G 4426;0|155 N N - 9 139934107 139934107 G A snp UTR3 *117C>T NPDC1 Npdc1 ENSG00000107281 neural proliferation, differentiation and control 1 chr9:139933922-139940655 Homozygous null mice display no obvious abnormalities in viability, fertility, behavior, or brain morphology. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPDC1 https://www.uniprot.org/uniprot/Q9NQX5 https://www.ncbi.nlm.nih.gov/omim/?term=605798 http://www.informatics.jax.org/searchtool/Search.do?query=NPDC1&submit=Quick%0D%3594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPDC1 rs6604 0.231629 0 0 1 0 0 UTR3 UTR3 UTR3 NPDC1(NM_015392:c.*117C>T) NPDC1(uc004cks.2:c.*117C>T,uc004ckt.2:c.*117C>T) ENSG00000107281(ENST00000371601:c.*117C>T,ENST00000371600:c.*117C>T) Na Na Na Na Na Na Het;G>A 219;12|8 Het;G>A 245;9|9 Hom;G>A 405;0|12 N N - 9 139934859 139934859 C T snp synonymous SNV G738A A246A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NPDC1 Npdc1 ENSG00000107281 neural proliferation, differentiation and control 1 chr9:139933922-139940655 Homozygous null mice display no obvious abnormalities in viability, fertility, behavior, or brain morphology. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPDC1 https://www.uniprot.org/uniprot/Q9NQX5 https://www.ncbi.nlm.nih.gov/omim/?term=605798 http://www.informatics.jax.org/searchtool/Search.do?query=NPDC1&submit=Quick%0D%3594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPDC1 rs7043416 0.0181709 0.0091 0.0087 1 0 0 exonic exonic exonic NPDC1 NPDC1 ENSG00000107281 synonymous SNV synonymous SNV unknown NPDC1:NM_015392:exon7:c.G738A:p.A246A, NPDC1:uc004cks.2:exon6:c.G972A:p.A324A,NPDC1:uc004ckt.2:exon7:c.G738A:p.A246A, UNKNOWN Het;C>T 700;33|28 Het;C>T 466;29|23 Hom;C>T 558;0|21 N N - 9 139934907 139934907 G A snp intronic NPDC1 Npdc1 ENSG00000107281 neural proliferation, differentiation and control 1 chr9:139933922-139940655 Homozygous null mice display no obvious abnormalities in viability, fertility, behavior, or brain morphology. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPDC1 https://www.uniprot.org/uniprot/Q9NQX5 https://www.ncbi.nlm.nih.gov/omim/?term=605798 http://www.informatics.jax.org/searchtool/Search.do?query=NPDC1&submit=Quick%0D%3594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPDC1 rs9411298 0.166933 0.1658 0.2692 1 0 0 intronic intronic intronic NPDC1 NPDC1 ENSG00000107281 Na Na Na Na Na Na Het;G>A 997;55|44 Het;G>A 745;43|37 Hom;G>A 930;3|39 N N - 9 139945192 139945192 C T snp intronic ENTPD2 Entpd2 ENSG00000054179 ectonucleoside triphosphate diphosphohydrolase 2 chr9:139942550-139948497 The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele display smaller circumvallate papilla size and reduced neural responses to taste stimuli. Phosphate bond hydrolysis by NTPDase proteins GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0009181;purine ribonucleoside diphosphate catabolic process;IEA|GO:0030168;platelet activation;IEA|GO:0034656;nucleobase-containing small molecule catabolic process;TAS GO:0005605;basal lamina;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017110;nucleoside-diphosphatase activity;IEA|GO:0017111;nucleoside-triphosphatase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/ENTPD2 https://www.uniprot.org/uniprot/Q9Y5L3 https://www.ncbi.nlm.nih.gov/omim/?term=602012 http://www.informatics.jax.org/searchtool/Search.do?query=ENTPD2&submit=Quick%0D%969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENTPD2 rs2292924 0.0335463 0 0 1 0 0 intronic intronic intronic ENTPD2 ENTPD2 ENSG00000054179 Na Na Na Na Na Na Het;C>T 51;11|4 Ref Hom;C>T 308;0|11 N N - 9 139945631 139945631 C T snp intronic ENTPD2 Entpd2 ENSG00000054179 ectonucleoside triphosphate diphosphohydrolase 2 chr9:139942550-139948497 The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele display smaller circumvallate papilla size and reduced neural responses to taste stimuli. Phosphate bond hydrolysis by NTPDase proteins GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0009181;purine ribonucleoside diphosphate catabolic process;IEA|GO:0030168;platelet activation;IEA|GO:0034656;nucleobase-containing small molecule catabolic process;TAS GO:0005605;basal lamina;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017110;nucleoside-diphosphatase activity;IEA|GO:0017111;nucleoside-triphosphatase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/ENTPD2 https://www.uniprot.org/uniprot/Q9Y5L3 https://www.ncbi.nlm.nih.gov/omim/?term=602012 http://www.informatics.jax.org/searchtool/Search.do?query=ENTPD2&submit=Quick%0D%969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENTPD2 rs78069653 0.0335463 0.0105 0.0150 1 0 0 intronic intronic intronic ENTPD2 ENTPD2 ENSG00000054179 Na Na Na Na Na Na Het;C>T 1676;92|70 Het;C>T 1361;85|66 Hom;C>T 3522;0|120 N N - 9 139973629 139973629 A C snp intronic UAP1L1 Uap1l1 ENSG00000197355 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 chr9:139971953-139978991 GO:0006048;UDP-N-acetylglucosamine biosynthetic process;IBA|GO:0008152;metabolic process;IEA GO:0005829;cytosol;IBA GO:0003977;UDP-N-acetylglucosamine diphosphorylase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0070569;uridylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UAP1L1 http://www.informatics.jax.org/searchtool/Search.do?query=UAP1L1&submit=Quick%0D%16601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UAP1L1 rs7390710 0.501398 0.5537 0.6242 1 0 0 intronic intronic intronic UAP1L1 UAP1L1 ENSG00000197355 Na Na Na Na Na Na Het;A>C 1541;77|62 Het;A>C 822;42|36 Hom;A>C 2982;0|76 N N - 9 139975195 139975195 C T snp synonymous SNV C1233T N411N polar,hydrophilic,neutral polar,hydrophilic,neutral UAP1L1 Uap1l1 ENSG00000197355 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 chr9:139971953-139978991 GO:0006048;UDP-N-acetylglucosamine biosynthetic process;IBA|GO:0008152;metabolic process;IEA GO:0005829;cytosol;IBA GO:0003977;UDP-N-acetylglucosamine diphosphorylase activity;IBA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0070569;uridylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/UAP1L1 http://www.informatics.jax.org/searchtool/Search.do?query=UAP1L1&submit=Quick%0D%16601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UAP1L1 rs41302685 0.0796725 0.0748 0.0803 1 0 0 exonic exonic exonic UAP1L1 UAP1L1 ENSG00000197355 synonymous SNV synonymous SNV unknown UAP1L1:NM_207309:exon7:c.C1233T:p.N411N, UAP1L1:uc004cla.4:exon5:c.C864T:p.N288N,UAP1L1:uc010ncb.3:exon7:c.C1233T:p.N411N, UNKNOWN Het;C>T 1087;62|53 Het;C>T 446;45|24 Hom;C>T 1848;0|68 N N - 9 139980385 139980385 C A snp ncRNA_exonic MAN1B1-AS1 rs1018330 0.502396 0 0 1 0 0 ncRNA_exonic UTR3 upstream;downstream MAN1B1-AS1 LOC100289341(uc004clb.3:c.*422G>T) ENSG00000177239;ENSG00000268996 Na Na Na Na Na Na Het;C>A 2670;110|118 Het;C>A 1466;80|65 Hom;C>A 4322;0|158 N N - 9 139980417 139980417 T C snp ncRNA_exonic MAN1B1-AS1 rs7466635 0.509784 0 0 1 0 0 ncRNA_exonic UTR3 upstream;downstream MAN1B1-AS1 LOC100289341(uc004clb.3:c.*390A>G) ENSG00000177239;ENSG00000268996 Na Na Na Na Na Na Het;T>C 2929;102|124 Het;T>C 1699;102|75 Hom;T>C 5108;0|184 N N - 9 140003529 140003529 G GC indel UTR3 *486G>GC MAN1B1 Man1b1 ENSG00000177239 mannosidase alpha class 1B member 1 chr9:139981379-140003635 This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011] Liver Diseases; alpha 1-Antitrypsin Deficiency|Liver Failure ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0006491;N-glycan processing;IBA|GO:0008152;metabolic process;IEA|GO:0009311;oligosaccharide metabolic process;TAS|GO:0030433;ubiquitin-dependent ERAD pathway;IMP|GO:0036508;protein alpha-1,2-demannosylation;IDA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:1904380;endoplasmic reticulum mannose trimming;IMP|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0000139;Golgi membrane;IBA|GO:0005783;endoplasmic reticulum;TAS|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS|GO:1903561;extracellular vesicle;IDA GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IDA|GO:0005509;calcium ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN1B1 https://hpo.jax.org/app/browse/search?q=MAN1B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604346 http://www.informatics.jax.org/searchtool/Search.do?query=MAN1B1&submit=Quick%0D%13994ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN1B1 rs71803786 0.0688898 0 0.1356 1 0 0 UTR3 UTR3 UTR3 MAN1B1(NM_016219:c.*486G>GC) MAN1B1(uc011mep.3:c.*1115G>GC,uc011meo.2:c.*486G>GC,uc004cld.3:c.*486G>GC,uc004clf.1:c.*486G>GC) ENSG00000177239(ENST00000371589:c.*486G>GC,ENST00000474902:c.*486G>GC,ENST00000475449:c.*52G>GC) Na Na Na Na Na Na Het;+C 1454;57|51 Het;+C 1498;53|52 Hom;+C 2547;2|75 N N - 9 140024665 140024665 C A snp intergenic DPP7 Dpp7 ENSG00000176978 dipeptidyl peptidase 7 chr9:140004994-140009629 The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008] Neutrophil degranulation GO:0006508;proteolysis;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0008239;dipeptidyl-peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DPP7 https://www.ncbi.nlm.nih.gov/omim/?term=610537 http://www.informatics.jax.org/searchtool/Search.do?query=DPP7&submit=Quick%0D%13948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPP7 rs60146347 0.0770767 0 0 1 0 0 intergenic intergenic intergenic DPP7(dist=15470),GRIN1(dist=8944) DPP7(dist=15470),GRIN1(dist=8944) ENSG00000238824(dist=6605),ENSG00000176884(dist=8177) Na Na Na Na Na Na Het;C>A 112;4|5 Het;C>A 115;4|6 Hom;C>A 319;0|12 N N - 9 140040002 140040002 C CA indel intronic GRIN1 Grin1 ENSG00000176884 glutamate ionotropic receptor NMDA type subunit 1 chr9:140032842-140063207 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] Weight Gain; Bulimia; alcoholism-related traits; seizures; alcohol consumption; bipolar disorder; Parkinson's disease; Bipolar Disorder; Alcoholism; Spasms, Infantile; schizophrenia; attention deficit disorder conduct disorder oppositional defiant disorder; alcoholism; weight loss Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology. Synaptic adhesion-like molecules GO:0000165;MAPK cascade;TAS|GO:0001661;conditioned taste aversion;IEA|GO:0001964;startle response;IEA|GO:0001967;suckling behavior;IEA|GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0007611;learning or memory;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0008355;olfactory learning;IEA|GO:0008542;visual learning;ISS|GO:0010646;regulation of cell communication;IEA|GO:0018964;propylene metabolic process;ISS|GO:0019233;sensory perception of pain;IEA|GO:0021586;pons maturation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035176;social behavior;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043278;response to morphine;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043576;regulation of respiratory gaseous exchange;IEA|GO:0045471;response to ethanol;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048167;regulation of synaptic plasticity;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;IEA|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050905;neuromuscular process;IEA|GO:0051963;regulation of synapse assembly;IEA|GO:0055074;calcium ion homeostasis;ISS|GO:0060079;excitatory postsynaptic potential;ISS|GO:0060134;prepulse inhibition;IEA|GO:0060179;male mating behavior;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008021;synaptic vesicle;ISS|GO:0009986;cell surface;ISS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IDA|GO:0043005;neuron projection;ISS|GO:0043083;synaptic cleft;ISS|GO:0043195;terminal bouton;ISS|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS|GO:0098839;postsynaptic density membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IDA|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;ISS|GO:0016594;glycine binding;IDA|GO:0016595;glutamate binding;IDA|GO:0042165;neurotransmitter binding;ISS|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRIN1 https://hpo.jax.org/app/browse/search?q=GRIN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138249 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN1&submit=Quick%0D%13922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN1 rs71387806 0.8125 0 0 1 0 0 intronic intronic intronic GRIN1 GRIN1 ENSG00000176884 Na Na Na Na Na Na Het;+A 120;2|5 Ref Hom;+A 323;0|6 N N - 9 140040039 140040039 C A snp intronic GRIN1 Grin1 ENSG00000176884 glutamate ionotropic receptor NMDA type subunit 1 chr9:140032842-140063207 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] Weight Gain; Bulimia; alcoholism-related traits; seizures; alcohol consumption; bipolar disorder; Parkinson's disease; Bipolar Disorder; Alcoholism; Spasms, Infantile; schizophrenia; attention deficit disorder conduct disorder oppositional defiant disorder; alcoholism; weight loss Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology. Synaptic adhesion-like molecules GO:0000165;MAPK cascade;TAS|GO:0001661;conditioned taste aversion;IEA|GO:0001964;startle response;IEA|GO:0001967;suckling behavior;IEA|GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0007611;learning or memory;IEA|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0008355;olfactory learning;IEA|GO:0008542;visual learning;ISS|GO:0010646;regulation of cell communication;IEA|GO:0018964;propylene metabolic process;ISS|GO:0019233;sensory perception of pain;IEA|GO:0021586;pons maturation;IEA|GO:0021987;cerebral cortex development;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035176;social behavior;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043278;response to morphine;IEA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043576;regulation of respiratory gaseous exchange;IEA|GO:0045471;response to ethanol;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048167;regulation of synaptic plasticity;IEA|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048169;regulation of long-term neuronal synaptic plasticity;IEA|GO:0048814;regulation of dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050905;neuromuscular process;IEA|GO:0051963;regulation of synapse assembly;IEA|GO:0055074;calcium ion homeostasis;ISS|GO:0060079;excitatory postsynaptic potential;ISS|GO:0060134;prepulse inhibition;IEA|GO:0060179;male mating behavior;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008021;synaptic vesicle;ISS|GO:0009986;cell surface;ISS|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IDA|GO:0043005;neuron projection;ISS|GO:0043083;synaptic cleft;ISS|GO:0043195;terminal bouton;ISS|GO:0043197;dendritic spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060076;excitatory synapse;ISS|GO:0098839;postsynaptic density membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0004972;NMDA glutamate receptor activity;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IDA|GO:0005509;calcium ion binding;ISS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;ISS|GO:0016594;glycine binding;IDA|GO:0016595;glutamate binding;IDA|GO:0042165;neurotransmitter binding;ISS|GO:1904315;transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRIN1 https://hpo.jax.org/app/browse/search?q=GRIN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=138249 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN1&submit=Quick%0D%13922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN1 rs11146023 0.827676 0 0 1 0 0 intronic intronic intronic GRIN1 GRIN1 ENSG00000176884 Na Na Na Na Na Na Het;C>A 63;2|4 Ref Hom;C>A 645;0|16 N N - 9 140086497 140086497 C T snp UTR3 *67G>A TPRN Tprn ENSG00000176058 taperin chr9:140086069-140098645 This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010] Deafness autosomal recessive 79 Mice homozygous for a knock-out allele exhibit hearing loss and degeneration of hair cell stereocilia. GO:0007605;sensory perception of sound;IEA GO:0032420;stereocilium;IEA|GO:0042995;cell projection;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPRN https://hpo.jax.org/app/browse/search?q=TPRN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613354 http://www.informatics.jax.org/searchtool/Search.do?query=TPRN&submit=Quick%0D%13793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRN Na 0 0 0 1 0 0 UTR3 UTR3 UTR3 TPRN(NM_001128228:c.*67G>A) TPRN(uc004clu.3:c.*67G>A,uc004clt.3:c.*67G>A) ENSG00000176058(ENST00000321773:c.*67G>A,ENST00000409012:c.*67G>A,ENST00000333046:c.*67G>A) Na Na Na Na Na Na Het;C>T 793;33|26 Het;C>T 775;19|26 Hom;C>T 1399;0|41 N N - 9 140144649 140144649 G A snp downstream C9orf173-AS1 rs9802576 0.617212 0 0 1 0 0 downstream downstream intergenic C9orf173-AS1 LOC100129722 ENSG00000188163(dist=2427),ENSG00000197768(dist=1064) Na Na Na Na Na Na Het;G>A 458;39|24 Het;G>A 387;22|18 Hom;G>A 896;0|32 N N - 9 140144732 140144732 A G snp ncRNA_exonic C9orf173-AS1 rs1133439 0.852835 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream C9orf173-AS1 LOC100129722 ENSG00000197768 Na Na Na Na Na Na Het;A>G 1538;78|68 Het;A>G 1758;69|72 Hom;A>G 3932;0|136 N N - 9 140145308 140145308 G A snp ncRNA_exonic C9orf173-AS1 rs9696356 0.630791 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream C9orf173-AS1 LOC100129722 ENSG00000197768 Na Na Na Na Na Na Het;G>A 1627;66|70 Het;G>A 1110;54|50 Hom;G>A 2399;1|86 N N - 9 140145431 140145431 A C snp ncRNA_exonic C9orf173-AS1 rs9695981 0.609225 0 0 1 0 0 ncRNA_exonic ncRNA_exonic upstream C9orf173-AS1 LOC100129722 ENSG00000197768 Na Na Na Na Na Na Het;A>C 1948;97|84 Het;A>C 1410;56|68 Hom;A>C 3470;0|124 N N - 9 140146651 140146651 T C snp ncRNA_intronic LOC100129722 rs28567631 0.701877 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic C9orf173-AS1 LOC100129722 ENSG00000197768 Na Na Na Na Na Na Het;T>C 1599;81|63 Het;T>C 751;57|34 Hom;T>C 3107;0|110 N N - 9 140147094 140147094 C CCT indel ncRNA_intronic LOC100129722 rs71387813 0.628594 0.6794 0.7213 1 0 0 ncRNA_intronic ncRNA_intronic intronic C9orf173-AS1 LOC100129722 ENSG00000197768 Na Na Na Na Na Na Het;+CT 1443;35|37 Het;+CT 1492;30|38 Hom;+CT 2300;0|53 N N - 9 140147152 140147152 C G snp synonymous SNV C531G P177P hydrophobic,neutral hydrophobic,neutral C9orf173 Stpg3 rs28376526 0.609824 0.6888 0.7153 1 0 0 exonic exonic exonic C9orf173 C9orf173 ENSG00000197768 synonymous SNV synonymous SNV unknown C9orf173:NM_001004353:exon5:c.C531G:p.P177P,C9orf173:NM_001256699:exon5:c.C531G:p.P177P, C9orf173:uc004cmj.2:exon5:c.C531G:p.P177P,C9orf173:uc004cmk.2:exon5:c.C531G:p.P177P, UNKNOWN Het;C>G 1746;60|73 Het;C>G 1207;43|50 Hom;C>G 2860;0|103 N N - 9 140147765 140147765 C T snp synonymous SNV C846T P282P hydrophobic,neutral hydrophobic,neutral C9orf173 Stpg3 rs1134511 0.0153754 0 0.0385 1 0 0 exonic exonic exonic C9orf173 C9orf173 ENSG00000197768 synonymous SNV synonymous SNV unknown C9orf173:NM_001256700:exon6:c.C846T:p.P282P,C9orf173:NM_001256699:exon6:c.C1011T:p.P337P, C9orf173:uc004cml.2:exon6:c.C846T:p.P282P,C9orf173:uc004cmk.2:exon6:c.C1011T:p.P337P, UNKNOWN Het;C>T 2453;129|114 Het;C>T 2040;82|90 Hom;C>T 5537;0|201 N N - 9 140148051 140148051 A G snp upstream;downstream C9orf173-AS1 rs28631372 0.629992 0 0 1 0 0 upstream;downstream upstream;downstream downstream C9orf173-AS1;C9orf173 LOC100129722;C9orf173 ENSG00000197768 Na Na Na Na Na Na Het;A>G 822;36|31 Het;A>G 569;13|20 Hom;A>G 1616;0|51 N N - 9 140150288 140150288 C T snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs78469234 0.0313498 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;C>T 426;26|16 Het;C>T 261;18|9 Hom;C>T 1606;0|47 N N - 9 140157429 140157429 G A snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs13294457 0.619409 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;G>A 360;18|15 Het;G>A 390;20|18 Hom;G>A 1056;0|36 N N - 9 140157460 140157460 T C snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs13296455 0.680911 0.7016 0.7344 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;T>C 689;29|30 Het;T>C 382;33|19 Hom;T>C 1458;0|50 N N - 9 140157701 140157701 C T snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs56368095 0.618011 0.6881 0.7046 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;C>T 1246;52|56 Het;C>T 657;40|32 Hom;C>T 1884;0|71 N N - 9 140158650 140158650 C T snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs9695897 0.616414 0.6980 0.6991 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;C>T 884;33|39 Het;C>T 405;37|22 Hom;C>T 1692;0|63 N N - 9 140158871 140158871 T C snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs13295537 0.630391 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;T>C 646;41|29 Het;T>C 356;27|16 Hom;T>C 1092;0|37 N N - 9 140161334 140161334 C T snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs9330192 0.620208 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;C>T 494;18|19 Het;C>T 228;8|9 Hom;C>T 743;0|24 N N - 9 140161634 140161639 GGGGCT G indel intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs544060553 0.607428 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;-GGGCT 2870;75|79 Het;-GGGCT 2356;56|70 Hom;-GGGCT 6503;2|155 N N - 9 140161641 140161647 AGGTGGG A indel intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs543108147 0.607428 0 0.6782 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;-GGTGGG 2871;76|80 Het;-GGTGGG 2354;57|70 Hom;-GGTGGG 6505;2|159 N N - 9 140161871 140161871 C T snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs9802270 0.615216 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;C>T 926;36|40 Het;C>T 761;15|33 Hom;C>T 1855;0|65 N N - 9 140161909 140161909 G T snp intronic NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs9802698 0.630591 0 0 1 0 0 intronic intronic intronic NELFB NELFB ENSG00000188986 Na Na Na Na Na Na Het;G>T 654;15|25 Het;G>T 451;6|18 Hom;G>T 799;0|23 N N - 9 140167022 140167022 G A snp synonymous SNV G1551A P517P hydrophobic,neutral hydrophobic,neutral NELFB Nelfb ENSG00000188986 negative elongation factor complex member B chr9:140149625-140167998 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. RNA Polymerase II Transcription Elongation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0034244;negative regulation of transcription elongation from RNA polymerase II promoter;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050434;positive regulation of viral transcription;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0032021;NELF complex;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELFB https://www.ncbi.nlm.nih.gov/omim/?term=611180 http://www.informatics.jax.org/searchtool/Search.do?query=NELFB&submit=Quick%0D%16150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELFB rs3204123 0.615216 0.6864 0.7146 1 0 0 exonic exonic exonic NELFB NELFB ENSG00000188986 synonymous SNV synonymous SNV unknown NELFB:NM_015456:exon12:c.G1551A:p.P517P, NELFB:uc004cmm.4:exon12:c.G1551A:p.P517P, UNKNOWN Het;G>A 1077;65|55 Het;G>A 888;57|44 Hom;G>A 3248;0|124 N N - 9 140262426 140262426 C T snp nonsynonymous SNV G478A A160T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral EXD3 ENSG00000187609 exonuclease 3'-5' domain containing 3 chr9:140201348-140317714 GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008408;3'-5' exonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EXD3 http://www.informatics.jax.org/searchtool/Search.do?query=EXD3&submit=Quick%0D%15855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXD3 rs11533158 0.70607 0.6491 0.6977 0.08 1 13 exonic exonic exonic EXD3 EXD3 ENSG00000187609 nonsynonymous SNV nonsynonymous SNV unknown EXD3:NM_001286823:exon6:c.G478A:p.A160T,EXD3:NM_017820:exon6:c.G478A:p.A160T, EXD3:uc004cmp.2:exon6:c.G478A:p.A160T,EXD3:uc010ncg.1:exon6:c.G295A:p.A99T,EXD3:uc004cmr.3:exon9:c.G295A:p.A99T,EXD3:uc004cms.3:exon6:c.G478A:p.A160T, UNKNOWN Het;C>T 1635;59|79 Het;C>T 892;75|50 Hom;C>T 3286;2|130 N N - 9 14030205 14030205 G GGGTGGGGGGGT indel downstream AL360089.1 rs71321960 0 0 0 1 0 0 intergenic intergenic downstream LINC00583(dist=84599),NFIB(dist=51637) LINC00583(dist=84599),NFIB(dist=51637) ENSG00000235533 Na Na Na Na Na Na Het;+GGTGGGGGGGT 128;1|4 Ref Hom;+GGTGGGGGGGT 143;0|4 N N - 9 140317979 140317979 G T snp UTR5 -3G>T NOXA1 Noxa1 ENSG00000188747 NADPH oxidase activator 1 chr9:140317802-140328858 This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities. RHO GTPases Activate NADPH Oxidases GO:0006801;superoxide metabolic process;IMP|GO:0010310;regulation of hydrogen peroxide metabolic process;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060263;regulation of respiratory burst;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0043020;NADPH oxidase complex;IDA GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IDA|GO:0017124;SH3 domain binding;IPI|GO:0019899;enzyme binding;IPI|GO:0048365;Rac GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NOXA1 https://www.ncbi.nlm.nih.gov/omim/?term=611255 http://www.informatics.jax.org/searchtool/Search.do?query=NOXA1&submit=Quick%0D%16099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOXA1 rs117554356 0.136382 0.1173 0.3218 1 0 0 UTR5 UTR5 UTR5 NOXA1(NM_001256068:c.-3G>T,NM_006647:c.-3G>T,NM_001256067:c.-3G>T) NOXA1(uc004cmv.3:c.-3G>T,uc004cmu.3:c.-3G>T,uc010nch.3:c.-3G>T) ENSG00000188747(ENST00000341349:c.-3G>T,ENST00000392815:c.-3G>T) Na Na Na Na Na Na Het;G>T 261;12|13 Het;G>T 342;4|18 Hom;G>T 683;0|27 N N - 9 140320617 140320617 C T snp intronic NOXA1 Noxa1 ENSG00000188747 NADPH oxidase activator 1 chr9:140317802-140328858 This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities. RHO GTPases Activate NADPH Oxidases GO:0006801;superoxide metabolic process;IMP|GO:0010310;regulation of hydrogen peroxide metabolic process;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060263;regulation of respiratory burst;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0043020;NADPH oxidase complex;IDA GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IDA|GO:0017124;SH3 domain binding;IPI|GO:0019899;enzyme binding;IPI|GO:0048365;Rac GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NOXA1 https://www.ncbi.nlm.nih.gov/omim/?term=611255 http://www.informatics.jax.org/searchtool/Search.do?query=NOXA1&submit=Quick%0D%16099ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOXA1 rs9414734 0.193291 0 0 1 0 0 intronic intronic intronic NOXA1 NOXA1 ENSG00000188747 Na Na Na Na Na Na Het;C>T 89;10|5 Het;C>T 278;4|13 Hom;C>T 183;0|7 N N - 9 140329618 140329618 A G snp intronic ENTPD8 Entpd8 ENSG00000188833 ectonucleoside triphosphate diphosphohydrolase 8 chr9:140328816-140336268 Phosphate bond hydrolysis by NTPDase proteins GO:0009124;nucleoside monophosphate biosynthetic process;IEA|GO:0009133;nucleoside diphosphate biosynthetic process;IEA|GO:0034656;nucleobase-containing small molecule catabolic process;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017110;nucleoside-diphosphatase activity;EXP|GO:0017111;nucleoside-triphosphatase activity;EXP|GO:0046872;metal ion binding;IEA|GO:0102490;8-oxo-dGTP phosphohydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENTPD8 https://www.ncbi.nlm.nih.gov/omim/?term=616748 http://www.informatics.jax.org/searchtool/Search.do?query=ENTPD8&submit=Quick%0D%16124ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENTPD8 rs28589413 0.220847 0.2582 0.2510 1 0 0 intronic intronic intronic ENTPD8 ENTPD8 ENSG00000188833 Na Na Na Na Na Na Het;A>G 1653;88|70 Het;A>G 1265;75|56 Hom;A>G 3274;0|116 N N - 9 140348401 140348401 T C snp intronic NSMF Nsmf ENSG00000165802 NMDA receptor synaptonuclear signaling and neuronal migration factor chr9:140342022-140353786 The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] hypogonadotropic hypogonadism Mice homozygous for a knock-out allele exhibit delayed sexual maturation in female mice and reduced male and female fertility. Another null allee shows hippocampal dysplasia with reduced synapses and simplification of dendrites, reduced LTP, and deficits in hippocampus-dependent learning. Females have fewer ovarian follicles and prolonged metestrus but shorter diestrus. GO:0035307;positive regulation of protein dephosphorylation;ISS|GO:0043523;regulation of neuron apoptotic process;ISS|GO:0048168;regulation of neuronal synaptic plasticity;IEA|GO:0048814;regulation of dendrite morphogenesis;ISS|GO:0071230;cellular response to amino acid stimulus;ISS|GO:0071257;cellular response to electrical stimulus;ISS|GO:0071371;cellular response to gonadotropin stimulus;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;IMP GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005654;nucleoplasm;IDA|GO:0005719;nuclear euchromatin;ISS|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030863;cortical cytoskeleton;ISS|GO:0031965;nuclear membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0097440;apical dendrite;ISS GO:0048306;calcium-dependent protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NSMF https://hpo.jax.org/app/browse/search?q=NSMF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608137 http://www.informatics.jax.org/searchtool/Search.do?query=NSMF&submit=Quick%0D%11627ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NSMF rs9410194 0.227236 0 0 1 0 0 intronic intronic intronic NSMF NSMF ENSG00000165802 Na Na Na Na Na Na Het;T>C 79;3|4 Het;T>C 137;2|5 Hom;T>C 157;0|6 N N - 9 140356374 140356374 C A snp intronic PNPLA7 Pnpla7 ENSG00000130653 patatin like phospholipase domain containing 7 chr9:140354404-140444986 Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008] Glycerophospholipid catabolism GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0032502;developmental process;IBA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004622;lysophospholipase activity;IBA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNPLA7 https://www.uniprot.org/uniprot/Q6ZV29 https://www.ncbi.nlm.nih.gov/omim/?term=612122 http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA7&submit=Quick%0D%6406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA7 rs4962240 0.415735 0.5343 0.6133 1 0 0 intronic intronic intronic PNPLA7 PNPLA7 ENSG00000130653 Na Na Na Na Na Na Het;C>A 722;18|27 Het;C>A 596;21|26 Hom;C>A 1309;0|45 N N - 9 140396212 140396212 C T snp intronic PNPLA7 Pnpla7 ENSG00000130653 patatin like phospholipase domain containing 7 chr9:140354404-140444986 Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008] Glycerophospholipid catabolism GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0032502;developmental process;IBA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0031965;nuclear membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004622;lysophospholipase activity;IBA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNPLA7 https://www.uniprot.org/uniprot/Q6ZV29 https://www.ncbi.nlm.nih.gov/omim/?term=612122 http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA7&submit=Quick%0D%6406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA7 rs1891629 0.21845 0.1785 0.2272 1 0 0 intronic intronic intronic PNPLA7 PNPLA7 ENSG00000130653 Na Na Na Na Na Na Het;C>T 518;29|24 Het;C>T 562;33|27 Hom;C>T 1459;0|54 N N - 9 140449582 140449582 A C snp ncRNA_exonic AK310226 rs10110 0.207069 0 0 1 0 0 UTR3 ncRNA_exonic UTR3 DPH7(NM_138778:c.*109T>G) AK310226 ENSG00000148399(ENST00000277540:c.*109T>G) Na Na Na Na Na Na Het;A>C 78;2|3 Ref Hom;A>C 266;0|8 N N - 9 140450159 140450159 C T snp ncRNA_exonic AK310226 rs1105221 0.207069 0 0 1 0 0 intronic ncRNA_exonic intronic DPH7 AK310226 ENSG00000148399 Na Na Na Na Na Na Het;C>T 603;33|27 Het;C>T 446;29|19 Hom;C>T 2223;0|71 N N - 9 140451012 140451012 C T snp ncRNA_exonic AK310226 rs2282465 0.207468 0 0 1 0 0 intronic ncRNA_exonic intronic DPH7 AK310226 ENSG00000148399 Na Na Na Na Na Na Het;C>T 224;4|7 Het;C>T 221;4|7 Hom;C>T 261;0|8 N N - 9 140473388 140473388 T G snp upstream WDR85 rs3763610 0.191893 0 0 1 0 0 upstream upstream upstream DPH7 WDR85 ENSG00000148399 Na Na Na Na Na Na Het;T>G 104;6|4 Ref Hom;T>G 71;0|4 N N - 9 140477249 140477249 G A snp intronic ZMYND19 Zmynd19 ENSG00000165724 zinc finger MYND-type containing 19 chr9:140476531-140484942 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008] GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZMYND19 https://www.ncbi.nlm.nih.gov/omim/?term=611424 http://www.informatics.jax.org/searchtool/Search.do?query=ZMYND19&submit=Quick%0D%11612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYND19 rs2094623 0.205871 0 0 1 0 0 intronic intronic intronic ZMYND19 ZMYND19 ENSG00000165724 Na Na Na Na Na Na Het;G>A 62;14|4 Ref Hom;G>A 409;0|13 N N - 9 140481946 140481946 G A snp intronic ZMYND19 Zmynd19 ENSG00000165724 zinc finger MYND-type containing 19 chr9:140476531-140484942 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008] GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZMYND19 https://www.ncbi.nlm.nih.gov/omim/?term=611424 http://www.informatics.jax.org/searchtool/Search.do?query=ZMYND19&submit=Quick%0D%11612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYND19 rs2297005 0.220048 0 0 1 0 0 intronic intronic intronic ZMYND19 ZMYND19 ENSG00000165724 Na Na Na Na Na Na Het;G>A 36;3|2 Ref Hom;G>A 174;0|6 N N - 9 140483339 140483339 G A snp intronic ZMYND19 Zmynd19 ENSG00000165724 zinc finger MYND-type containing 19 chr9:140476531-140484942 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008] GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZMYND19 https://www.ncbi.nlm.nih.gov/omim/?term=611424 http://www.informatics.jax.org/searchtool/Search.do?query=ZMYND19&submit=Quick%0D%11612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYND19 rs2297004 0.202875 0 0 1 0 0 intronic intronic intronic ZMYND19 ZMYND19 ENSG00000165724 Na Na Na Na Na Na Het;G>A 79;1|3 Ref Hom;G>A 332;0|10 N N - 9 140507308 140507308 C T snp UTR5 -1116C>T ARRDC1 Arrdc1 ENSG00000197070 arrestin domain containing 1 chr9:140500106-140509812 Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. GO:0005886;plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ARRDC1 http://www.informatics.jax.org/searchtool/Search.do?query=ARRDC1&submit=Quick%0D%16537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARRDC1 rs2282020 0.154952 0.1304 0.1816 1 0 0 intronic UTR5 intronic ARRDC1 ARRDC1(uc004cnx.2:c.-1116C>T) ENSG00000197070 Na Na Na Na Na Na Het;C>T 736;24|31 Het;C>T 613;15|24 Hom;C>T 830;0|29 N N - 9 140508031 140508031 A G snp UTR5 -393A>G ARRDC1 Arrdc1 ENSG00000197070 arrestin domain containing 1 chr9:140500106-140509812 Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. GO:0005886;plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ARRDC1 http://www.informatics.jax.org/searchtool/Search.do?query=ARRDC1&submit=Quick%0D%16537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARRDC1 rs34249205 0.154353 0.1310 0.1682 1 0 0 intronic UTR5 intronic ARRDC1 ARRDC1(uc004cnx.2:c.-393A>G) ENSG00000197070 Na Na Na Na Na Na Het;A>G 1653;89|70 Het;A>G 1110;73|47 Hom;A>G 3292;2|116 N N - 9 140512555 140512555 G A snp ncRNA_exonic ARRDC1-AS1 rs1045777 0.349441 0 0 1 0 0 ncRNA_exonic UTR5 UTR5 ARRDC1-AS1 C9orf37(uc004cnz.3:c.-1904C>T) ENSG00000203993(ENST00000371417:c.-1904C>T) Na Na Na Na Na Na Het;G>A 1775;145|90 Het;G>A 1747;75|78 Hom;G>A 4163;0|155 N N - 9 140605334 140605334 T C snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs7039441 0.535743 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;T>C 396;17|17 Het;T>C 337;11|12 Hom;T>C 981;0|34 N N - 9 140611436 140611436 T C snp synonymous SNV T444C P148P hydrophobic,neutral hydrophobic,neutral EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs3812497 0.227835 0.2208 0.2791 1 0 0 exonic exonic exonic EHMT1 EHMT1 ENSG00000181090 synonymous SNV synonymous SNV unknown EHMT1:NM_001145527:exon3:c.T444C:p.P148P,EHMT1:NM_024757:exon3:c.T444C:p.P148P, EHMT1:uc011mfc.2:exon3:c.T444C:p.P148P,EHMT1:uc004coa.3:exon3:c.T444C:p.P148P,EHMT1:uc004cob.1:exon2:c.T351C:p.P117P, UNKNOWN Het;T>C 1395;58|63 Het;T>C 946;49|45 Hom;T>C 2377;0|86 N N - 9 140638416 140638416 G A snp synonymous SNV G1044A S348S polar,hydrophilic,neutral polar,hydrophilic,neutral EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs1129767 0.152356 0.1312 0.1925 1 0 0 exonic exonic exonic EHMT1 EHMT1 ENSG00000181090 synonymous SNV synonymous SNV unknown EHMT1:NM_001145527:exon6:c.G1044A:p.S348S,EHMT1:NM_024757:exon6:c.G1044A:p.S348S, EHMT1:uc011mfc.2:exon6:c.G1044A:p.S348S,EHMT1:uc004coa.3:exon6:c.G1044A:p.S348S,EHMT1:uc004cob.1:exon5:c.G951A:p.S317S, UNKNOWN Het;G>A 1338;74|64 Het;G>A 919;79|47 Hom;G>A 3508;2|137 N N - 9 140638461 140638461 T C snp synonymous SNV T1089C G363G aliphatic,neutral aliphatic,neutral EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs1129768 0.46885 0.5038 0.3970 1 0 0 exonic exonic exonic EHMT1 EHMT1 ENSG00000181090 synonymous SNV synonymous SNV unknown EHMT1:NM_001145527:exon6:c.T1089C:p.G363G,EHMT1:NM_024757:exon6:c.T1089C:p.G363G, EHMT1:uc011mfc.2:exon6:c.T1089C:p.G363G,EHMT1:uc004coa.3:exon6:c.T1089C:p.G363G,EHMT1:uc004cob.1:exon5:c.T996C:p.G332G, UNKNOWN Het;T>C 1544;74|75 Het;T>C 1874;80|90 Hom;T>C 4819;0|184 N N - 9 140638607 140638607 A T snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs4979643 0.226637 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;A>T 330;24|16 Het;A>T 411;20|20 Hom;A>T 1022;0|39 N N - 9 140646647 140646647 C T snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs10867058 0.224042 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;C>T 31;6|2 Het;C>T 97;8|4 Hom;C>T 380;0|10 N N - 9 140656980 140656980 A G snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs4876941 0.327676 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;A>G 55;5|4 Ref Hom;A>G 111;0|4 N N - 9 140657628 140657628 C T snp ncRNA_exonic EHMT1-IT1 rs58016314 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic EHMT1-IT1 FLJ40292 ENSG00000181090 Na Na Na Na Na Na Het;C>T 4007;118|114 Het;C>T 3943;121|105 Hom;C>T 7547;0|175 N N - 9 140657636 140657636 T TGCCCAGAAC indel ncRNA_exonic EHMT1-IT1 rs151021520 0.134984 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic EHMT1-IT1 FLJ40292 ENSG00000181090 Na Na Na Na Na Na Het;+GCCCAGAAC 3803;119|103 Het;+GCCCAGAAC 4371;120|110 Hom;+GCCCAGAAC 7782;0|172 N N - 9 140657950 140657950 G A snp ncRNA_exonic EHMT1-IT1 rs11137208 0.258786 0 0 1 0 0 ncRNA_exonic ncRNA_exonic intronic EHMT1-IT1 FLJ40292 ENSG00000181090 Na Na Na Na Na Na Het;G>A 3092;122|139 Het;G>A 2673;80|115 Hom;G>A 5624;1|201 N N - 9 140681849 140681849 T C snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs11137228 0.184505 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;T>C 150;7|7 Het;T>C 89;12|4 Hom;T>C 469;2|19 N N - 9 140682103 140682103 C T snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs11137229 0.163339 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;C>T 268;15|12 Het;C>T 186;14|11 Hom;C>T 418;0|15 N N - 9 140693181 140693181 G A snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs4876947 0.258986 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;G>A 361;15|16 Het;G>A 259;18|12 Hom;G>A 463;0|17 N N - 9 140695576 140695576 A G snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs7871917 0.422125 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;A>G 486;14|15 Het;A>G 164;2|5 Hom;A>G 689;1|18 N N - 9 140710603 140710603 C T snp intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs4876902 0.198482 0 0 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;C>T 1319;25|51 Het;C>T 1032;31|44 Hom;C>T 1731;0|62 N N - 9 140728787 140728787 T TTC indel intronic EHMT1 Ehmt1 ENSG00000181090 euchromatic histone lysine methyltransferase 1 chr9:140513444-140764468 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] overall effect; Marijuana Abuse|Psychoses, Substance-Induced; Tobacco Use Disorder; breast cancer; esophageal adenocarcinoma; Macular Degeneration; longevity; colorectal cancer Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. Regulation of TP53 Activity through Methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006306;DNA methylation;IEA|GO:0006325;chromatin organization;IDA|GO:0009790;embryo development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IDA|GO:0018026;peptidyl-lysine monomethylation;IEA|GO:0018027;peptidyl-lysine dimethylation;IDA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051567;histone H3-K9 methylation;IEA|GO:0060992;response to fungicide;IEA|GO:0070734;histone H3-K27 methylation;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IPI|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0008270;zinc ion binding;IEA|GO:0016279;protein-lysine N-methyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046974;histone methyltransferase activity (H3-K9 specific);IEA|GO:0046976;histone methyltransferase activity (H3-K27 specific);IEA|GO:0070742;C2H2 zinc finger domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EHMT1 https://hpo.jax.org/app/browse/search?q=EHMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607001 http://www.informatics.jax.org/searchtool/Search.do?query=EHMT1&submit=Quick%0D%14583ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EHMT1 rs10667884 0.204473 0.2156 0.1473 1 0 0 intronic intronic intronic EHMT1 EHMT1 ENSG00000181090 Na Na Na Na Na Na Het;+TC 4058;89|107 Het;+TC 3479;110|96 Hom;+TC 7179;5|172 N N - 9 140937920 140937920 C T snp ncRNA_exonic LOC101928786 rs542369584 0.000199681 0 0 1 0 0 ncRNA_exonic intronic intronic LOC101928786 CACNA1B ENSG00000148408 Na Na Na Na Na Na Het;C>T 1935;72|89 Het;C>T 1965;54|81 Hom;C>T 3312;0|119 N N - 9 141015019 141015019 G C snp intronic CACNA1B Cacna1b ENSG00000148408 calcium voltage-gated channel subunit alpha1 B chr9:140772241-141019076 The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Schizophrenia; Tobacco Use Disorder; Body Height; schizophrenia | bipolar disorder Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. Presynaptic depolarization and calcium channel opening GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;IEA|GO:0007626;locomotory behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0048265;response to pain;IEA|GO:0051899;membrane depolarization;TAS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1B https://www.uniprot.org/uniprot/Q00975 https://hpo.jax.org/app/browse/search?q=CACNA1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601012 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1B&submit=Quick%0D%9117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1B rs2278971 0.267372 0 0 1 0 0 intronic intronic intronic CACNA1B CACNA1B ENSG00000148408 Na Na Na Na Na Na Het;G>C 166;2|6 Ref Hom;G>C 403;0|11 N N - 9 141015351 141015351 A G snp intronic CACNA1B Cacna1b ENSG00000148408 calcium voltage-gated channel subunit alpha1 B chr9:140772241-141019076 The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Schizophrenia; Tobacco Use Disorder; Body Height; schizophrenia | bipolar disorder Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. Presynaptic depolarization and calcium channel opening GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;IEA|GO:0007626;locomotory behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0048265;response to pain;IEA|GO:0051899;membrane depolarization;TAS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1B https://www.uniprot.org/uniprot/Q00975 https://hpo.jax.org/app/browse/search?q=CACNA1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601012 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1B&submit=Quick%0D%9117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1B rs2278972 0.272564 0.2946 0.3732 1 0 0 intronic intronic intronic CACNA1B CACNA1B ENSG00000148408 Na Na Na Na Na Na Het;A>G 982;37|43 Het;A>G 647;23|30 Hom;A>G 1492;0|51 N N - 9 141016262 141016262 T G snp nonsynonymous SNV T6638G L2213R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) CACNA1B Cacna1b ENSG00000148408 calcium voltage-gated channel subunit alpha1 B chr9:140772241-141019076 The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Schizophrenia; Tobacco Use Disorder; Body Height; schizophrenia | bipolar disorder Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. Presynaptic depolarization and calcium channel opening GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;IEA|GO:0007626;locomotory behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0048265;response to pain;IEA|GO:0051899;membrane depolarization;TAS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1B https://www.uniprot.org/uniprot/Q00975 https://hpo.jax.org/app/browse/search?q=CACNA1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601012 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1B&submit=Quick%0D%9117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1B rs2278973 0.910743 0.9270 0.9030 0.33 3 9 exonic exonic exonic CACNA1B CACNA1B ENSG00000148408 nonsynonymous SNV nonsynonymous SNV unknown CACNA1B:NM_001243812:exon46:c.T6644G:p.L2215R, CACNA1B:uc022bqn.1:exon46:c.T6638G:p.L2213R,CACNA1B:uc031tfz.1:exon47:c.T6644G:p.L2215R, UNKNOWN Het;T>G 1991;83|86 Het;T>G 1879;91|81 Hom;T>G 3348;0|115 N N - 9 141016531 141016531 C T snp UTR3 *80C>T CACNA1B Cacna1b ENSG00000148408 calcium voltage-gated channel subunit alpha1 B chr9:140772241-141019076 The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Schizophrenia; Tobacco Use Disorder; Body Height; schizophrenia | bipolar disorder Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. Presynaptic depolarization and calcium channel opening GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;IEA|GO:0007626;locomotory behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0048265;response to pain;IEA|GO:0051899;membrane depolarization;TAS|GO:0051924;regulation of calcium ion transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0086010;membrane depolarization during action potential;IBA GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0000166;nucleotide binding;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1B https://www.uniprot.org/uniprot/Q00975 https://hpo.jax.org/app/browse/search?q=CACNA1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601012 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1B&submit=Quick%0D%9117ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1B rs2229949 0.722843 0 0 1 0 0 UTR3 UTR3 UTR3 CACNA1B(NM_001243812:c.*199C>T,NM_000718:c.*80C>T) CACNA1B(uc004cog.3:c.*80C>T,uc022bqn.1:c.*199C>T,uc031tfy.1:c.*80C>T,uc031tfz.1:c.*199C>T,uc004coi.3:c.*80C>T) ENSG00000148408(ENST00000277549:c.*80C>T,ENST00000371372:c.*80C>T,ENST00000277551:c.*199C>T,ENST00000371363:c.*80C>T,ENST00000371355:c.*80C>T,ENST00000371357:c.*80C>T) Na Na Na Na Na Na Het;C>T 496;19|17 Ref Hom;C>T 465;0|14 N N - 9 141066490 141066490 C T snp ncRNA_intronic TUBBP5 rs62581014 0.249201 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;C>T 76;3|4 Ref Hom;C>T 71;0|4 N N - 9 141068620 141068620 A T snp ncRNA_exonic TUBBP5 rs10780202 0.61861 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic TUBBP5 TUBBP5(uc010ncq.3:c.-522A>T) ENSG00000159247 Na Na Na Na Na Na Het;A>T 1642;69|46 Het;A>T 1147;37|31 Hom;A>T 3111;0|70 N N - 9 141068624 141068624 T C snp ncRNA_exonic TUBBP5 rs11137399 0.284345 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic TUBBP5 TUBBP5(uc010ncq.3:c.-518T>C) ENSG00000159247 Na Na Na Na Na Na Het;T>C 1639;69|44 Het;T>C 1138;42|31 Hom;T>C 3146;0|71 N N - 9 141068960 141068960 T C snp ncRNA_exonic TUBBP5 rs1840733 0.291334 0 0 1 0 0 ncRNA_exonic UTR5 ncRNA_exonic TUBBP5 TUBBP5(uc010ncq.3:c.-182T>C) ENSG00000159247 Na Na Na Na Na Na Het;T>C 1021;52|44 Het;T>C 910;54|40 Hom;T>C 2050;5|85 N N - 9 141069420 141069420 G A snp ncRNA_intronic TUBBP5 rs11137400 0.596845 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;G>A 437;13|12 Het;G>A 209;5|6 Hom;G>A 721;0|18 N N - 9 141069424 141069424 C G snp ncRNA_intronic TUBBP5 rs11137401 0.601438 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;C>G 437;10|12 Het;C>G 209;4|6 Hom;C>G 696;0|15 N N - 9 141069452 141069452 T C snp ncRNA_exonic TUBBP5 rs9410181 0.788938 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;T>C 236;10|7 Het;T>C 121;3|4 Hom;T>C 417;0|8 N N - 9 141069460 141069460 G A snp ncRNA_exonic TUBBP5 rs9410182 0.795727 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;G>A 242;6|7 Het;G>A 173;3|3 Hom;G>A 377;0|9 N N - 9 141069463 141069463 C T snp ncRNA_exonic TUBBP5 rs9410183 0.796126 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;C>T 248;6|7 Het;C>T 173;3|5 Hom;C>T 377;0|8 N N - 9 141069473 141069473 C T snp ncRNA_exonic TUBBP5 rs9410184 0.783746 0 0 1 0 0 ncRNA_intronic intronic ncRNA_exonic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;C>T 245;7|7 Het;C>T 173;3|5 Hom;C>T 442;0|12 N N - 9 141069563 141069563 A G snp ncRNA_intronic TUBBP5 rs13292888 0.912141 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;A>G 206;5|8 Het;A>G 87;2|5 Hom;A>G 309;0|13 N N - 9 141069613 141069613 A G snp ncRNA_intronic TUBBP5 rs13292919 0.811502 0 0 1 0 0 ncRNA_intronic intronic ncRNA_intronic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;A>G 285;2|9 Het;A>G 247;3|8 Hom;A>G 355;0|12 N N - 9 141069952 141069952 T C snp ncRNA_intronic TUBBP5 rs9410185 0.845447 0 0.8578 1 0 0 ncRNA_intronic intronic ncRNA_intronic TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;T>C 7643;83|207 Het;T>C 6979;53|196 Hom;T>C 10641;3|269 N N - 9 141070335 141070335 T G snp nonsynonymous SNV T575G V192G aliphatic,hydrophobic,neutral aliphatic,neutral TUBBP5 rs7868705 0.800919 0 0.8625 1 0 0 ncRNA_exonic exonic ncRNA_exonic TUBBP5 TUBBP5 ENSG00000159247 Na nonsynonymous SNV Na Na TUBBP5:uc010ncq.3:exon4:c.T575G:p.V192G, Na Het;T>G 4769;77|147 Het;T>G 4803;80|153 Hom;T>G 7434;0|214 N N - 9 141070916 141070916 G A snp ncRNA_exonic TUBBP5 rs75538873 0 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TUBBP5 TUBBP5(uc010ncq.3:c.*161G>A) ENSG00000159247 Na Na Na Na Na Na Het;G>A 613;92|35 Het;G>A 431;93|31 Hom;G>A 1645;0|65 N N - 9 141071438 141071438 A G snp ncRNA_exonic TUBBP5 rs7869352 0.813299 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TUBBP5 TUBBP5(uc010ncq.3:c.*683A>G) ENSG00000159247 Na Na Na Na Na Na Het;A>G 2404;109|99 Het;A>G 1308;105|59 Hom;A>G 4035;0|144 N N - 9 141071475 141071475 C G snp ncRNA_exonic TUBBP5 rs7863719 0.780751 0 0 1 0 0 ncRNA_exonic UTR3 ncRNA_exonic TUBBP5 TUBBP5(uc010ncq.3:c.*720C>G) ENSG00000159247 Na Na Na Na Na Na Het;C>G 2792;129|114 Het;C>G 1497;110|71 Hom;C>G 5446;0|186 N N - 9 141072731 141072731 A C snp downstream TUBBP5 rs3004650 0 0 0 1 0 0 downstream downstream downstream TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;A>C 57;9|4 Het;A>C 132;2|5 Hom;A>C 234;0|7 N N - 9 141072755 141072755 T C snp downstream TUBBP5 rs4066892 0 0 0 1 0 0 downstream downstream downstream TUBBP5 TUBBP5 ENSG00000159247 Na Na Na Na Na Na Het;T>C 140;6|6 Het;T>C 158;1|6 Hom;T>C 85;0|3 N N - 9 141072848 141072848 G C snp downstream TUBBP5 rs2312879 0.845847 0 0 1 0 0 downstream downstream intergenic TUBBP5 TUBBP5 ENSG00000159247(dist=1027),ENSG00000237419(dist=17535) Na Na Na Na Na Na Het;G>C 201;7|9 Het;G>C 47;3|3 Hom;G>C 298;0|11 N N - 9 141073700 141073700 G A snp intergenic TUBBP5 rs2434911 0.753395 0 0 1 0 0 intergenic intergenic intergenic TUBBP5(dist=1815),FAM157B(dist=32937) TUBBP5(dist=1815),FAM157B(dist=32937) ENSG00000159247(dist=1879),ENSG00000237419(dist=16683) Na Na Na Na Na Na Het;G>A 308;21|16 Het;G>A 342;6|14 Hom;G>A 443;0|18 N N - 9 141075634 141075634 G A snp intergenic TUBBP5 rs10217203 0.891973 0 0 1 0 0 intergenic intergenic intergenic TUBBP5(dist=3749),FAM157B(dist=31003) TUBBP5(dist=3749),FAM157B(dist=31003) ENSG00000159247(dist=3813),ENSG00000237419(dist=14749) Na Na Na Na Na Na Het;G>A 998;3|24 Het;G>A 534;6|14 Hom;G>A 850;0|20 N N - 9 14735053 14735053 T C snp UTR3 *2341A>G FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs1048070 0.435703 0 0 1 0 0 UTR3 UTR3 UTR3 FREM1(NM_001177704:c.*2341A>G,NM_144966:c.*2341A>G) FREM1(uc003zll.3:c.*2341A>G,uc003zlm.3:c.*2341A>G) ENSG00000164946(ENST00000422223:c.*2341A>G,ENST00000380881:c.*2341A>G) Na Na Na Na Na Na Het;T>C 1752;53|72 Het;T>C 1517;76|67 Hom;T>C 3637;0|127 N N - 9 14735064 14735064 G C snp UTR3 *2330C>G FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs2270526 0.55631 0 0 1 0 0 UTR3 UTR3 UTR3 FREM1(NM_001177704:c.*2330C>G,NM_144966:c.*2330C>G) FREM1(uc003zll.3:c.*2330C>G,uc003zlm.3:c.*2330C>G) ENSG00000164946(ENST00000422223:c.*2330C>G,ENST00000380881:c.*2330C>G) Na Na Na Na Na Na Het;G>C 2513;51|66 Het;G>C 2397;78|65 Hom;G>C 5136;0|117 N N - 9 14735074 14735074 T G snp UTR3 *2320A>C FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs2270527 0.578275 0 0 1 0 0 UTR3 UTR3 UTR3 FREM1(NM_001177704:c.*2320A>C,NM_144966:c.*2320A>C) FREM1(uc003zll.3:c.*2320A>C,uc003zlm.3:c.*2320A>C) ENSG00000164946(ENST00000422223:c.*2320A>C,ENST00000380881:c.*2320A>C) Na Na Na Na Na Na Het;T>G 2363;47|61 Het;T>G 2432;80|64 Hom;T>G 5037;0|112 N N - 9 14735529 14735529 A G snp UTR3 *1865T>C FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs1494342 0.723442 0 0 1 0 0 UTR3 UTR3 UTR3 FREM1(NM_001177704:c.*1865T>C,NM_144966:c.*1865T>C) FREM1(uc003zll.3:c.*1865T>C,uc003zlm.3:c.*1865T>C) ENSG00000164946(ENST00000422223:c.*1865T>C,ENST00000380881:c.*1865T>C) Na Na Na Na Na Na Het;A>G 1107;29|42 Het;A>G 1316;47|51 Hom;A>G 2632;0|89 N N - 9 14735694 14735694 A G snp UTR3 *1700T>C FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs1494343 0.723043 0 0 1 0 0 UTR3 UTR3 UTR3 FREM1(NM_001177704:c.*1700T>C,NM_144966:c.*1700T>C) FREM1(uc003zll.3:c.*1700T>C,uc003zlm.3:c.*1700T>C) ENSG00000164946(ENST00000422223:c.*1700T>C,ENST00000380881:c.*1700T>C) Na Na Na Na Na Na Het;A>G 908;57|39 Het;A>G 1740;58|74 Hom;A>G 3991;0|141 N N - 9 14737060 14737060 T TA indel UTR3 *334A>TA FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs35050914 0 0 0 1 0 0 UTR3 UTR3 UTR3 FREM1(NM_001177704:c.*334A>TA,NM_144966:c.*334A>TA) FREM1(uc003zll.3:c.*334A>TA,uc003zlm.3:c.*334A>TA) ENSG00000164946(ENST00000422223:c.*334A>TA,ENST00000380881:c.*334A>TA) Na Na Na Na Na Na Het;+A 169;17|10 Het;+A 288;16|14 Hom;+A 553;0|20 N N - 9 14737506 14737506 T G snp nonsynonymous SNV A6428C Q2143P polar,hydrophilic,neutral hydrophobic,neutral FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs10961689 0.735024 0.7526 0.7385 0.08 1 13 exonic exonic exonic FREM1 FREM1 ENSG00000164946 nonsynonymous SNV nonsynonymous SNV unknown FREM1:NM_144966:exon38:c.A6428C:p.Q2143P,FREM1:NM_001177704:exon14:c.A2036C:p.Q679P, FREM1:uc003zlm.3:exon38:c.A6428C:p.Q2143P,FREM1:uc003zll.3:exon14:c.A2036C:p.Q679P, UNKNOWN Het;T>G 2905;139|136 Het;T>G 1985;109|95 Hom;T>G 5644;0|202 N N - 9 14737616 14737616 A G snp intronic FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs10961690 0.732228 0.7453 0.7420 1 0 0 intronic intronic intronic FREM1 FREM1 ENSG00000164946 Na Na Na Na Na Na Het;A>G 1248;39|49 Het;A>G 419;26|16 Hom;A>G 1901;0|64 N N - 9 14737743 14737743 C A snp intronic FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs10511596 0.728634 0 0 1 0 0 intronic intronic intronic FREM1 FREM1 ENSG00000164946 Na Na Na Na Na Na Het;C>A 68;4|3 Ref Hom;C>A 158;0|5 N N - 9 14740300 14740300 A G snp intronic FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs2270528 0.599241 0 0 1 0 0 intronic intronic intronic FREM1 FREM1 ENSG00000164946 Na Na Na Na Na Na Het;A>G 410;13|14 Het;A>G 268;11|11 Hom;A>G 1257;0|43 N N - 9 14756318 14756318 C CA indel intronic FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs397702444 0.416134 0.4075 0 1 0 0 intronic intronic intronic FREM1 FREM1 ENSG00000164946 Na Na Na Na Na Na Het;+A 93;8|5 Het;+A 101;3|6 Hom;+A 394;0|15 N N - 9 14756483 14756483 A G snp intronic FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs10810233 0.421526 0.4341 0.5147 1 0 0 intronic intronic intronic FREM1 FREM1 ENSG00000164946 Na Na Na Na Na Na Het;A>G 261;11|11 Het;A>G 258;15|13 Hom;A>G 815;0|29 N N - 9 14788886 14788886 T C snp intronic FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs16932282 0.146965 0.0970 0.1622 1 0 0 intronic intronic intronic FREM1 FREM1 ENSG00000164946 Na Na Na Na Na Na Het;T>C 250;18|13 Het;T>C 494;14|19 Hom;T>C 910;1|26 N N - 9 15017410 15017410 G T snp ncRNA_exonic LOC389705 rs1047677 0.188099 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LOC389705 LOC389705 ENSG00000215237 Na Na Na Na Na Na Het;G>T 2720;85|77 Het;G>T 1845;61|85 Hom;G>T 4685;2|142 N N - 9 15192720 15192720 A G snp intronic TTC39B Ttc39b ENSG00000155158 tetratricopeptide repeat domain 39B chr9:15163620-15307358 Cholesterol; Type 2 diabetes; Cholesterol, HDL; Lipoproteins, HDL; Tobacco Use Disorder; Diabetes Mellitus; Coronary Artery Disease; Dyslipidemias|Syndrome http://www.genecards.org/index.php?path=/Search/keyword/TTC39B https://www.uniprot.org/uniprot/Q5VTQ0 https://www.ncbi.nlm.nih.gov/omim/?term=613574 http://www.informatics.jax.org/searchtool/Search.do?query=TTC39B&submit=Quick%0D%9846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC39B rs566820 0.823882 0.7820 0.7948 1 0 0 intronic intronic intronic TTC39B TTC39B ENSG00000155158 Na Na Na Na Na Na Het;A>G 692;56|32 Het;A>G 777;44|40 Hom;A>G 2767;0|103 N N - 9 15536667 15536667 G A snp intergenic PSIP1 Psip1 ENSG00000164985 PC4 and SFRS1 interacting protein 1 chr9:15464064-15511017 Mice homozygous for disruptions in this gene tend to die perinatally. Survivors show reduced fertility and a variety of skeletal and behavioral abnormalities. Vpr-mediated nuclear import of PICs GO:0000395;mRNA 5'-splice site recognition;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006979;response to oxidative stress;ISS|GO:0009408;response to heat;ISS|GO:0016032;viral process;IEA|GO:0051169;nuclear transport;TAS|GO:0075713;establishment of integrated proviral latency;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0035327;transcriptionally active chromatin;ISS GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0097100;supercoiled DNA binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PSIP1 https://www.ncbi.nlm.nih.gov/omim/?term=603620 http://www.informatics.jax.org/searchtool/Search.do?query=PSIP1&submit=Quick%0D%11444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSIP1 rs7867900 0.59385 0 0 1 0 0 intergenic intergenic intergenic PSIP1(dist=25664),CCDC171(dist=16430) PSIP1(dist=25664),CCDC171(dist=16205) ENSG00000213362(dist=8986),ENSG00000207433(dist=7519) Na Na Na Na Na Na Het;G>A 460;21|22 Het;G>A 543;18|26 Hom;G>A 1062;0|38 N N - 9 15591372 15591372 T A snp nonsynonymous SNV T361A S121T polar,hydrophilic,neutral polar,hydrophilic,neutral CCDC171 Ccdc171 ENSG00000164989 coiled-coil domain containing 171 chr9:15552895-16061661 Echocardiography; Carotid Artery Diseases; Body Weight; Tobacco Use Disorder Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level. http://www.genecards.org/index.php?path=/Search/keyword/CCDC171 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC171&submit=Quick%0D%11445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC171 rs4741510 0.354034 0.2983 0.4056 0.15 2 13 exonic exonic exonic CCDC171 CCDC171 ENSG00000164989 nonsynonymous SNV nonsynonymous SNV unknown CCDC171:NM_173550:exon5:c.T361A:p.S121T, CCDC171:uc011lmu.2:exon4:c.T361A:p.S121T,CCDC171:uc010mih.1:exon5:c.T361A:p.S121T,CCDC171:uc003zmd.3:exon5:c.T361A:p.S121T,CCDC171:uc003zme.3:exon6:c.T82A:p.S28T,CCDC171:uc003zmc.2:exon5:c.T361A:p.S121T, UNKNOWN Het;T>A 287;5|11 Het;T>A 348;11|16 Hom;T>A 824;0|31 N N - 9 15623163 15623163 A G snp intronic CCDC171 Ccdc171 ENSG00000164989 coiled-coil domain containing 171 chr9:15552895-16061661 Echocardiography; Carotid Artery Diseases; Body Weight; Tobacco Use Disorder Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level. http://www.genecards.org/index.php?path=/Search/keyword/CCDC171 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC171&submit=Quick%0D%11445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC171 rs7863088 0.551917 0 0 1 0 0 intronic intronic intronic CCDC171 CCDC171 ENSG00000164989 Na Na Na Na Na Na Het;A>G 202;4|6 Ref Hom;A>G 224;0|6 N N - 9 15623462 15623462 T C snp intronic CCDC171 Ccdc171 ENSG00000164989 coiled-coil domain containing 171 chr9:15552895-16061661 Echocardiography; Carotid Artery Diseases; Body Weight; Tobacco Use Disorder Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level. http://www.genecards.org/index.php?path=/Search/keyword/CCDC171 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC171&submit=Quick%0D%11445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC171 rs405352 0.483626 0 0.5007 1 0 0 intronic intronic intronic CCDC171 CCDC171 ENSG00000164989 Na Na Na Na Na Na Het;T>C 534;16|13 Het;T>C 116;15|9 Hom;T>C 365;0|11 N N - 9 16215744 16215744 C T snp intronic C9orf92 ENSG00000205549 chromosome 9 open reading frame 92 chr9:16203933-16276311 http://www.genecards.org/index.php?path=/Search/keyword/C9orf92 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf92&submit=Quick%0D%17531ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf92 rs16934264 0.276957 0 0.1667 1 0 0 intronic intronic intronic C9orf92 C9orf92 ENSG00000205549 Na Na Na Na Na Na Het;C>T 799;29|32 Het;C>T 494;38|25 Hom;C>T 1507;0|51 N N - 9 16316668 16316668 G C snp intergenic NONE rs9407753 0.324081 0 0 1 0 0 intergenic intergenic intergenic NONE(dist=NONE),BNC2(dist=92833) C9orf92(dist=40357),BNC2(dist=92833) ENSG00000205549(dist=40357),ENSG00000173068(dist=92833) Na Na Na Na Na Na Het;G>C 96;2|6 Het;G>C 83;5|3 Hom;G>C 71;0|4 N N - 9 20926138 20926139 TG T indel intronic FOCAD Focad ENSG00000188352 focadhesin chr9:20658308-20995954 Tobacco Use Disorder; Heart Failure; Respiratory Function Tests; Alzheimer's disease ; Cardiovascular Diseases GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FOCAD https://www.ncbi.nlm.nih.gov/omim/?term=614606 http://www.informatics.jax.org/searchtool/Search.do?query=FOCAD&submit=Quick%0D%16020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FOCAD rs34011812 0.11262 0 0 1 0 0 intronic intronic intronic FOCAD FOCAD ENSG00000188352 Na Na Na Na Na Na Het;-G 163;8|6 Het;-G 32;2|2 Hom;-G 119;0|4 N N - 9 26988571 26988571 A G snp intronic IFT74 Ift74 ENSG00000096872 intraflagellar transport 74 chr9:26947037-27062928 Myocardial Infarction Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy. Intraflagellar transport GO:0003334;keratinocyte development;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008544;epidermis development;IEA|GO:0030030;cell projection organization;IEA|GO:0033630;positive regulation of cell adhesion mediated by integrin;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042073;intraciliary transport;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0005813;centrosome;IBA|GO:0005929;cilium;IEA|GO:0030992;intraciliary transport particle B;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031514;motile cilium;ISS|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS GO:0003682;chromatin binding;IEA|GO:0048487;beta-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IFT74 https://www.uniprot.org/uniprot/Q96LB3 https://hpo.jax.org/app/browse/search?q=IFT74&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608040 http://www.informatics.jax.org/searchtool/Search.do?query=IFT74&submit=Quick%0D%2288ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT74 rs10967645 0.318091 0 0 1 0 0 intronic intronic intronic IFT74 IFT74 ENSG00000096872 Na Na Na Na Na Na Het;A>G 59;5|3 Ref Hom;A>G 143;0|6 N N - 9 286593 286593 C A snp nonsynonymous SNV C85A P29T hydrophobic,neutral polar,hydrophilic,neutral DOCK8 Dock8 ENSG00000107099 dedicator of cytokinesis 8 chr9:214854-465259 This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] Tobacco Use Disorder; Platelet Count; Heart Failure Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. Factors involved in megakaryocyte development and platelet production GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOCK8 https://www.uniprot.org/uniprot/Q8NF50 https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611432 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8 rs529208 0.529752 0.4642 0.5206 0.62 8 13 exonic exonic exonic DOCK8 DOCK8 ENSG00000107099 nonsynonymous SNV nonsynonymous SNV unknown DOCK8:NM_203447:exon3:c.C289A:p.P97T,DOCK8:NM_001190458:exon2:c.C85A:p.P29T,DOCK8:NM_001193536:exon2:c.C85A:p.P29T, DOCK8:uc010mgv.3:exon2:c.C85A:p.P29T,DOCK8:uc010mgt.3:exon2:c.C85A:p.P29T,DOCK8:uc011lls.1:exon3:c.C289A:p.P97T,DOCK8:uc003zgg.3:exon2:c.C85A:p.P29T,DOCK8:uc003zgf.2:exon3:c.C289A:p.P97T,DOCK8:uc022bcu.1:exon2:c.C85A:p.P29T, UNKNOWN Het;C>A 1518;65|70 Het;C>A 1507;62|70 Hom;C>A 3596;0|132 N N - 9 30689856 30689856 C T snp ncRNA_exonic RBMXP2 rs12378799 0.378794 0 0 1 0 0 intergenic intergenic ncRNA_exonic LINC01242(dist=281404),ACO1(dist=1694745) LOC401497(dist=281404),ACO1(dist=1694745) ENSG00000215210 Na Na Na Na Na Na Het;C>T 650;70|32 Het;C>T 1233;39|52 Hom;C>T 1872;0|65 N N - 9 3181549 3181549 A ACCTTC indel upstream LINC01231 rs148411103 0.339856 0 0 1 0 0 upstream intergenic upstream LINC01231 Mir_548(dist=257143),RFX3(dist=43098) ENSG00000236511 Na Na Na Na Na Na Het;+CCTTC 563;32|16 Het;+CCTTC 979;11|20 Hom;+CCTTC 2167;0|49 N N - 9 3186996 3186997 TG T indel ncRNA_exonic LINC01231 rs34605336 0.272364 0 0 1 0 0 ncRNA_exonic intergenic ncRNA_exonic LINC01231 Mir_548(dist=262590),RFX3(dist=37650) ENSG00000236511 Na Na Na Na Na Na Het;-G 1550;63|55 Het;-G 2023;87|73 Hom;-G 5749;0|165 N N - 9 334524 334524 G A snp intronic DOCK8 Dock8 ENSG00000107099 dedicator of cytokinesis 8 chr9:214854-465259 This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] Tobacco Use Disorder; Platelet Count; Heart Failure Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. Factors involved in megakaryocyte development and platelet production GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOCK8 https://www.uniprot.org/uniprot/Q8NF50 https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611432 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8 rs10813820 0.20627 0 0 1 0 0 intronic intronic intronic DOCK8 DOCK8 ENSG00000107099 Na Na Na Na Na Na Het;G>A 82;1|3 Het;G>A 77;3|4 Hom;G>A 218;0|8 N N - 9 3346544 3346544 A ACT indel intronic RFX3 Rfx3 ENSG00000080298 regulatory factor X3 chr9:3218297-3526004 This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013] Coronary Artery Disease Homozygous null mice display embryonic and perinatal lethality, impaired development of cilia on the embryonic node, abnormal left-right patterning, meso- and dextrocardia, and situs inversus in surviving adults. GO:0003309;type B pancreatic cell differentiation;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0030154;cell differentiation;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048469;cell maturation;ISS|GO:0050796;regulation of insulin secretion;ISS|GO:0060271;cilium assembly;ISS|GO:0060285;cilium-dependent cell motility;IEA|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IEA|GO:0072560;type B pancreatic cell maturation;IEA|GO:2000078;positive regulation of type B pancreatic cell development;ISS GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005667;transcription factor complex;IC GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RFX3 https://www.uniprot.org/uniprot/P48380 https://www.ncbi.nlm.nih.gov/omim/?term=601337 http://www.informatics.jax.org/searchtool/Search.do?query=RFX3&submit=Quick%0D%1726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFX3 rs34522821 0 0 0 1 0 0 intronic intronic intronic RFX3 RFX3 ENSG00000080298 Na Na Na Na Na Na Het;+CT 206;3|6 Ref Hom;+CT 323;0|6 N N - 9 34663798 34663798 T C snp ncRNA_exonic AL162231.4 rs867811 0.654752 0 0 1 0 0 intergenic intergenic ncRNA_exonic CCL27(dist=1109),CCL19(dist=25769) CCL27(dist=1109),CCL19(dist=25769) ENSG00000261215 Na Na Na Na Na Na Het;T>C 66;1|3 Ref Hom;T>C 71;0|4 N N - 9 35816890 35816890 A G snp UTR3 *1953T>C FAM221B Fam221b ENSG00000204930 family with sequence similarity 221 member B chr9:35816388-35828744 Male mice homozygous for a null allele exhibit normal fecundity. http://www.genecards.org/index.php?path=/Search/keyword/FAM221B http://www.informatics.jax.org/searchtool/Search.do?query=FAM221B&submit=Quick%0D%17427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM221B rs10972590 0.790136 0 0 1 0 0 downstream downstream UTR3 FAM221B FAM221B ENSG00000204930(ENST00000388950:c.*1953T>C) Na Na Na Na Na Na Het;A>G 95;3|4 Ref Hom;A>G 190;0|6 N N - 9 38583791 38583791 T A snp intronic ANKRD18A ENSG00000180071 ankyrin repeat domain 18A chr9:38540566-38577204 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD18A http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD18A&submit=Quick%0D%14429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD18A rs6476724 0.982428 0 0 1 0 0 intronic intronic intronic ANKRD18A ANKRD18A ENSG00000180071 Na Na Na Na Na Na Het;T>A 39;4|3 Ref Hom;T>A 135;0|5 N N - 9 38686734 38686734 G T snp intergenic FAM201A rs10119417 0.202077 0 0 1 0 0 intergenic intergenic intergenic FAM201A(dist=63457),CNTNAP3(dist=386030) U6(dist=6633),CNTNAP3(dist=386030) ENSG00000252725(dist=6633),ENSG00000228467(dist=117270) Na Na Na Na Na Na Het;G>T 198;6|8 Ref Hom;G>T 148;0|5 N N - 9 432081 432081 T C snp intronic DOCK8 Dock8 ENSG00000107099 dedicator of cytokinesis 8 chr9:214854-465259 This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] Tobacco Use Disorder; Platelet Count; Heart Failure Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. Factors involved in megakaryocyte development and platelet production GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOCK8 https://www.uniprot.org/uniprot/Q8NF50 https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611432 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8 rs1329377 0.715655 0 0 1 0 0 intronic intronic intronic DOCK8 DOCK8 ENSG00000107099 Na Na Na Na Na Na Het;T>C 198;15|7 Het;T>C 311;7|11 Hom;T>C 308;0|8 N N - 9 44018825 44018825 A G snp downstream CYP4F60P rs150799070 0 0 0 1 0 0 intergenic intergenic downstream CNTNAP3B(dist=96352),LOC101927827(dist=365760) CNTNAP3B(dist=96352),DQ574527(dist=2476) ENSG00000230635 Na Na Na Na Na Na Het;A>G 492;2|13 Ref Hom;A>G 246;0|7 N N - 9 44018835 44018835 G A snp downstream CYP4F60P rs71489795 0.684305 0 0 1 0 0 intergenic intergenic downstream CNTNAP3B(dist=96362),LOC101927827(dist=365750) CNTNAP3B(dist=96362),DQ574527(dist=2466) ENSG00000230635 Na Na Na Na Na Na Het;G>A 470;2|12 Ref Hom;G>A 197;0|5 N N - 9 44018837 44018837 G T snp downstream CYP4F60P rs71489796 0.684305 0 0 1 0 0 intergenic intergenic downstream CNTNAP3B(dist=96364),LOC101927827(dist=365748) CNTNAP3B(dist=96364),DQ574527(dist=2464) ENSG00000230635 Na Na Na Na Na Na Het;G>T 470;2|12 Ref Hom;G>T 197;0|5 N N - 9 44144931 44144931 C T snp intergenic CNTNAP3B Cntnap3 ENSG00000154529 contactin associated protein like 3B chr9:43684902-43924049 GO:0007155;cell adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP3B https://www.uniprot.org/uniprot/Q96NU0 http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP3B&submit=Quick%0D%9779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP3B rs143903958 0.603035 0 0 1 0 0 intergenic intergenic intergenic CNTNAP3B(dist=222458),LOC101927827(dist=239654) DQ570938(dist=95801),LOC643648(dist=242456) ENSG00000236816(dist=26487),ENSG00000224537(dist=2975) Na Na Na Na Na Na Het;C>T 314;12|9 Ref Hom;C>T 447;0|10 N N - 9 44144938 44144938 G T snp intergenic CNTNAP3B Cntnap3 ENSG00000154529 contactin associated protein like 3B chr9:43684902-43924049 GO:0007155;cell adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNTNAP3B https://www.uniprot.org/uniprot/Q96NU0 http://www.informatics.jax.org/searchtool/Search.do?query=CNTNAP3B&submit=Quick%0D%9779ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTNAP3B rs139412333 0.603834 0 0 1 0 0 intergenic intergenic intergenic CNTNAP3B(dist=222465),LOC101927827(dist=239647) DQ570938(dist=95808),LOC643648(dist=242449) ENSG00000236816(dist=26494),ENSG00000224537(dist=2968) Na Na Na Na Na Na Het;G>T 314;12|9 Ref Hom;G>T 447;0|11 N N - 9 44990709 44990727 CTGTGTGTGTGTGTGTGTG C indel ncRNA_intronic FAM27C Na 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic intronic FAM27C FAM27C ENSG00000154537 Na Na Na Na Na Na Het;-TGTGTGTGTGTGTGTGTG 576;6|16 Het;-TGTGTGTGTGTGTGTGTG 654;5|21 Hom;-TGTGTGTGTGTGTGTGTG 305;1|9 N N - 9 45729496 45729496 G A snp upstream ENSG00000229523 rs55861382 0 0 0 1 0 0 intergenic intergenic upstream LOC102723709(dist=724206),FAM27E2(dist=387447) FAM27A(dist=1213),Y_RNA(dist=412068) ENSG00000229523 Na Na Na Na Na Na Het;G>A 230;2|11 Het;G>A 44;4|3 Hom;G>A 102;0|4 N N - 9 45729526 45729526 T G snp upstream ENSG00000229523 rs11496918 0 0 0 1 0 0 intergenic intergenic upstream LOC102723709(dist=724236),FAM27E2(dist=387417) FAM27A(dist=1243),Y_RNA(dist=412038) ENSG00000229523 Na Na Na Na Na Na Het;T>G 187;1|9 Het;T>G 85;4|4 Hom;T>G 111;0|4 N N - 9 5720172 5720172 C G snp ncRNA_intronic AL136980.1 rs10758700 0.495208 0.3654 0.4956 1 0 0 intronic intronic ncRNA_intronic RIC1 KIAA1432 ENSG00000225408 Na Na Na Na Na Na Het;C>G 2164;45|86 Het;C>G 1826;48|71 Hom;C>G 3715;0|133 N N - 9 5732483 5732483 T C snp intronic RIC1 Ric1 rs7850299 0.482428 0.3561 0.4862 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000107036 Na Na Na Na Na Na Het;T>C 1332;47|55 Het;T>C 1056;53|51 Hom;T>C 2195;2|83 N N - 9 5732532 5732533 GT G indel intronic RIC1 Ric1 rs541531550 0.474241 0 0 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000107036 Na Na Na Na Na Na Het;-T 217;11|13 Het;-T 98;22|9 Hom;-T 452;2|22 N N - 9 5754988 5754988 A T snp intronic RIC1 Ric1 rs7038447 0.467652 0 0 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000107036 Na Na Na Na Na Na Het;A>T 366;19|16 Het;A>T 371;14|18 Hom;A>T 827;0|27 N N - 9 5755022 5755022 T A snp intronic RIC1 Ric1 rs12685557 0.344649 0 0 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000107036 Na Na Na Na Na Na Het;T>A 399;9|13 Het;T>A 224;6|7 Hom;T>A 470;0|13 N N - 9 5756494 5756494 T TA indel intronic RIC1 Ric1 rs143891502 0 0 0 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000107036 Na Na Na Na Na Na Het;+A 203;20|12 Het;+A 224;10|11 Hom;+A 471;0|17 N N - 9 5762533 5762533 A C snp intronic RIC1 Ric1 rs1543526 0.397764 0.3288 0.4043 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000107036 Na Na Na Na Na Na Het;A>C 1427;38|57 Het;A>C 823;39|37 Hom;A>C 2311;0|86 N N - 9 5769998 5769998 A G snp intronic RIC1 Ric1 rs734548 0.53135 0 0 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000099219,ENSG00000107036 Na Na Na Na Na Na Het;A>G 122;5|5 Het;A>G 81;5|4 Hom;A>G 221;0|6 N N - 9 5770047 5770047 A G snp intronic RIC1 Ric1 rs734549 0.370607 0.2891 0.4288 1 0 0 intronic intronic intronic RIC1 KIAA1432 ENSG00000099219,ENSG00000107036 Na Na Na Na Na Na Het;A>G 360;9|12 Het;A>G 311;13|10 Hom;A>G 425;0|14 N N - 9 5774225 5774225 T G snp synonymous SNV T4251G T1417T polar,hydrophilic,neutral polar,hydrophilic,neutral RIC1 Ric1 rs3739648 0.331869 0.2498 0.3517 1 0 0 exonic exonic exonic RIC1 KIAA1432 ENSG00000107036 synonymous SNV synonymous SNV unknown RIC1:NM_020829:exon26:c.T4251G:p.T1417T,RIC1:NM_001206557:exon25:c.T4140G:p.T1380T, KIAA1432:uc003zjl.4:exon25:c.T4140G:p.T1380T,KIAA1432:uc003zji.4:exon26:c.T4251G:p.T1417T, UNKNOWN Het;T>G 1093;52|50 Het;T>G 1436;53|65 Hom;T>G 2794;0|97 N N - 9 5801071 5801071 A G snp intronic ERMP1 Ermp1 ENSG00000099219 endoplasmic reticulum metallopeptidase 1 chr9:5765076-5833117 Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMP1 https://www.uniprot.org/uniprot/Q7Z2K6 https://www.ncbi.nlm.nih.gov/omim/?term=611156 http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1 rs10815283 0.383387 0 0 1 0 0 intronic intronic intronic ERMP1 ERMP1 ENSG00000099219 Na Na Na Na Na Na Het;A>G 268;7|8 Het;A>G 82;4|3 Hom;A>G 141;0|4 N N - 9 5801121 5801121 A G snp intronic ERMP1 Ermp1 ENSG00000099219 endoplasmic reticulum metallopeptidase 1 chr9:5765076-5833117 Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMP1 https://www.uniprot.org/uniprot/Q7Z2K6 https://www.ncbi.nlm.nih.gov/omim/?term=611156 http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1 rs3824444 0.391573 0 0 1 0 0 intronic intronic intronic ERMP1 ERMP1 ENSG00000099219 Na Na Na Na Na Na Het;A>G 365;21|15 Het;A>G 191;11|9 Hom;A>G 537;0|18 N N - 9 5805001 5805001 A G snp intronic ERMP1 Ermp1 ENSG00000099219 endoplasmic reticulum metallopeptidase 1 chr9:5765076-5833117 Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMP1 https://www.uniprot.org/uniprot/Q7Z2K6 https://www.ncbi.nlm.nih.gov/omim/?term=611156 http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1 rs10975289 0.408347 0.2807 0.4439 1 0 0 intronic intronic intronic ERMP1 ERMP1 ENSG00000099219 Na Na Na Na Na Na Het;A>G 412;8|16 Het;A>G 293;16|14 Hom;A>G 966;0|33 N N - 9 5813077 5813077 A AT indel intronic ERMP1 Ermp1 ENSG00000099219 endoplasmic reticulum metallopeptidase 1 chr9:5765076-5833117 Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMP1 https://www.uniprot.org/uniprot/Q7Z2K6 https://www.ncbi.nlm.nih.gov/omim/?term=611156 http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1 rs35748220 0.42512 0.2951 0.4209 1 0 0 intronic intronic intronic ERMP1 ERMP1 ENSG00000099219 Na Na Na Na Na Na Het;+T 52;12|5 Het;+T 123;13|8 Hom;+T 666;0|25 N N - 9 5832728 5832728 G C snp synonymous SNV C300G A100A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ERMP1 Ermp1 ENSG00000099219 endoplasmic reticulum metallopeptidase 1 chr9:5765076-5833117 Parkinson Disease; Cholesterol; Lipoprotein(a); Parietal Lobe Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. GO:0006508;proteolysis;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMP1 https://www.uniprot.org/uniprot/Q7Z2K6 https://www.ncbi.nlm.nih.gov/omim/?term=611156 http://www.informatics.jax.org/searchtool/Search.do?query=ERMP1&submit=Quick%0D%2300ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMP1 rs1131727 0.403554 0 0.4951 1 0 0 exonic exonic exonic ERMP1 ERMP1 ENSG00000099219 synonymous SNV synonymous SNV unknown ERMP1:NM_024896:exon1:c.C300G:p.A100A, ERMP1:uc003zjm.1:exon1:c.C300G:p.A100A,ERMP1:uc003zjn.1:exon1:c.C300G:p.A100A, UNKNOWN Het;G>C 309;6|14 Het;G>C 192;9|10 Hom;G>C 750;0|27 N N - 9 6506038 6506038 C T snp synonymous SNV C2268T C756C polar,hydrophobic,neutral polar,hydrophobic,neutral UHRF2 Uhrf2 ENSG00000147854 ubiquitin like with PHD and ring finger domains 2 chr9:6413151-6507054 This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012] Tobacco Use Disorder; Erythrocyte Count; C-Reactive Protein Homozygous KO causes deregulated expression of neuron-related genes, reduced DNA methylation in the brain and impaired contextual conditioning and spatial memory. GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;IEP|GO:0010216;maintenance of DNA methylation;IBA|GO:0016567;protein ubiquitination;IDA|GO:0030154;cell differentiation;IEP|GO:0051726;regulation of cell cycle;TAS|GO:0051865;protein autoubiquitination;IDA|GO:0071158;positive regulation of cell cycle arrest;IDA|GO:0090308;regulation of methylation-dependent chromatin silencing;IBA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005720;nuclear heterochromatin;IBA GO:0003677;DNA binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0042393;histone binding;ISS|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/UHRF2 https://www.uniprot.org/uniprot/Q96PU4 https://www.ncbi.nlm.nih.gov/omim/?term=615211 http://www.informatics.jax.org/searchtool/Search.do?query=UHRF2&submit=Quick%0D%9052ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UHRF2 rs33962342 0.130192 0.0847 0.1346 1 0 0 exonic exonic exonic UHRF2 UHRF2 ENSG00000147854 synonymous SNV synonymous SNV unknown UHRF2:NM_152896:exon16:c.C2268T:p.C756C, UHRF2:uc003zjy.3:exon16:c.C2268T:p.C756C, UNKNOWN Het;C>T 1081;47|46 Het;C>T 1292;24|55 Hom;C>T 1653;0|57 N N - 9 66458360 66458360 A G snp ncRNA_intronic CR627148 rs2321644 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01410 CR627148 ENSG00000238113 Na Na Na Na Na Na Het;A>G 114;5|5 Ref Hom;A>G 507;1|14 N N - 9 66458449 66458449 T A snp ncRNA_intronic CR627148 rs1845066 0.476637 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01410 CR627148 ENSG00000238113 Na Na Na Na Na Na Het;T>A 299;3|8 Het;T>A 215;4|8 Hom;T>A 782;2|20 N N - 9 66466339 66466339 G C snp ncRNA_exonic LINC01410 rs1907830 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic LINC01410 CR627148 ENSG00000238113 Na Na Na Na Na Na Het;G>C 2552;35|73 Het;G>C 2041;29|60 Hom;G>C 2923;7|80 N N - 9 66467605 66467605 A C snp ncRNA_intronic CR627148 rs2252128 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LINC01410 CR627148 ENSG00000238113 Na Na Na Na Na Na Het;A>C 393;6|11 Het;A>C 223;3|7 Hom;A>C 193;0|5 N N - 9 68380496 68380496 A G snp intergenic ANKRD20A3 ENSG00000276203 ankyrin repeat domain 20 family member A3 chr9:43064966-43133544 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD20A3 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD20A3&submit=Quick%0D%21551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD20A3 rs76660909 0 0 0 1 0 0 intergenic intergenic intergenic ANKRD20A3(dist=410203),MIR4477A(dist=34812) ANKRD20A3(dist=410203),AK308561(dist=29502) ENSG00000239684(dist=8619),ENSG00000225411(dist=17382) Na Na Na Na Na Na Het;A>G 59;5|4 Ref Hom;A>G 238;0|6 N N - 9 68380537 68380537 A G snp intergenic ANKRD20A3 ENSG00000276203 ankyrin repeat domain 20 family member A3 chr9:43064966-43133544 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD20A3 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD20A3&submit=Quick%0D%21551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD20A3 rs796844354 0 0 0 1 0 0 intergenic intergenic intergenic ANKRD20A3(dist=410244),MIR4477A(dist=34771) ANKRD20A3(dist=410244),AK308561(dist=29461) ENSG00000239684(dist=8660),ENSG00000225411(dist=17341) Na Na Na Na Na Na Het;A>G 38;6|2 Het;A>G 83;5|3 Hom;A>G 152;0|4 N N - 9 68380540 68380540 A G snp intergenic ANKRD20A3 ENSG00000276203 ankyrin repeat domain 20 family member A3 chr9:43064966-43133544 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD20A3 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD20A3&submit=Quick%0D%21551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD20A3 Na 0 0 0 1 0 0 intergenic intergenic intergenic ANKRD20A3(dist=410247),MIR4477A(dist=34768) ANKRD20A3(dist=410247),AK308561(dist=29458) ENSG00000239684(dist=8663),ENSG00000225411(dist=17338) Na Na Na Na Na Na Het;A>G 38;6|2 Het;A>G 83;5|3 Hom;A>G 152;0|4 N N - 9 68413240 68413240 C T snp ncRNA_exonic AK308561 rs75291619 0 0 0 1 0 0 intergenic ncRNA_exonic downstream ANKRD20A3(dist=442947),MIR4477A(dist=2068) AK308561 ENSG00000232815 Na Na Na Na Na Na Het;C>T 118;1|5 Ref Hom;C>T 63;0|2 N N - 9 68414479 68414479 G A snp ncRNA_exonic BC080605 rs74889299 0 0 0 1 0 0 upstream;downstream ncRNA_exonic upstream MIR4477B;MIR4477A BC080605 ENSG00000232815,ENSG00000266017 Na Na Na Na Na Na Het;G>A 81;1|4 Ref Hom;G>A 63;0|2 N N - 9 68415388 68415388 A T snp ncRNA_exonic MIR4477A rs4928837 0 0 0.5047 1 0 0 ncRNA_exonic downstream ncRNA_exonic MIR4477A,MIR4477B BC080605 ENSG00000266017 Na Na Na Na Na Na Het;A>T 47;1|3 Ref Hom;A>T 103;0|5 N N - 9 68416972 68416972 G A snp intergenic MIR4477A rs71163401 0 0 0 1 0 0 intergenic intergenic intergenic MIR4477A(dist=1584),LOC642236(dist=10811) BC080605(dist=2043),LOC642236(dist=10811) ENSG00000266017(dist=1584),ENSG00000215548(dist=10889) Na Na Na Na Na Na Het;G>A 53;1|2 Ref Hom;G>A 85;0|4 N N - 9 68421799 68421799 C T snp intergenic MIR4477A rs375590564 0 0 0 1 0 0 intergenic intergenic intergenic MIR4477A(dist=6411),LOC642236(dist=5984) BC080605(dist=6870),LOC642236(dist=5984) ENSG00000266017(dist=6411),ENSG00000215548(dist=6062) Na Na Na Na Na Na Het;C>T 41;1|2 Het;C>T 109;2|4 Hom;C>T 107;0|3 N N - 9 68429905 68429905 G A snp ncRNA_intronic LOC642236 rs62543313 0 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC642236 LOC642236 ENSG00000215548 Na Na Na Na Na Na Het;G>A 171;2|6 Het;G>A 131;1|4 Hom;G>A 240;0|7 N N - 9 68433346 68433346 C T snp ncRNA_intronic LOC642236 rs62543347 0.339457 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_intronic LOC642236 LOC642236 ENSG00000215548 Na Na Na Na Na Na Het;C>T 3767;30|124 Het;C>T 4775;22|182 Hom;C>T 5460;12|163 N N - 9 70089641 70089641 C T snp intergenic LOC101928381 rs369520584 0 0 0 1 0 0 intergenic intergenic intergenic LOC101928381(dist=331857),FOXD4L5(dist=86066) AK310876(dist=331857),FOXD4L5(dist=86066) ENSG00000224599(dist=2425),ENSG00000236252(dist=23952) Na Na Na Na Na Na Het;C>T 131;3|4 Ref Hom;C>T 287;0|7 N N - 9 70089647 70089647 G T snp intergenic LOC101928381 rs865964660 0 0 0 1 0 0 intergenic intergenic intergenic LOC101928381(dist=331863),FOXD4L5(dist=86060) AK310876(dist=331863),FOXD4L5(dist=86060) ENSG00000224599(dist=2431),ENSG00000236252(dist=23946) Na Na Na Na Na Na Het;G>T 137;0|4 Ref Hom;G>T 287;0|7 N N - 9 7046917 7046917 A G snp nonsynonymous SNV A2381G K794R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) KDM4C Kdm4c ENSG00000107077 lysine demethylase 4C chr9:6720863-7175648 This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4C https://www.uniprot.org/uniprot/Q9H3R0 https://www.ncbi.nlm.nih.gov/omim/?term=605469 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C rs1417290 0.0884585 0.0530 0.0617 0.38 5 13 exonic exonic exonic KDM4C KDM4C ENSG00000107077 nonsynonymous SNV nonsynonymous SNV unknown KDM4C:NM_001146695:exon16:c.A2315G:p.K772R,KDM4C:NM_001146694:exon16:c.A2315G:p.K772R,KDM4C:NM_015061:exon16:c.A2315G:p.K772R,KDM4C:NM_001146696:exon16:c.A2381G:p.K794R,KDM4C:NM_001304339:exon16:c.A2315G:p.K772R,KDM4C:NM_001304340:exon14:c.A1550G:p.K517R, KDM4C:uc010mhu.2:exon16:c.A2381G:p.K794R,KDM4C:uc011lml.2:exon9:c.A1376G:p.K459R,KDM4C:uc011lmi.1:exon16:c.A2315G:p.K772R,KDM4C:uc003zkg.3:exon16:c.A2315G:p.K772R,KDM4C:uc011lmk.2:exon14:c.A1550G:p.K517R,KDM4C:uc003zkh.3:exon16:c.A2315G:p.K772R, UNKNOWN Het;A>G 885;55|45 Het;A>G 1799;94|81 Hom;A>G 5780;2|223 N N - 9 7076586 7076586 G A snp UTR3 *135G>A KDM4C Kdm4c ENSG00000107077 lysine demethylase 4C chr9:6720863-7175648 This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4C https://www.uniprot.org/uniprot/Q9H3R0 https://www.ncbi.nlm.nih.gov/omim/?term=605469 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C rs1570513 0.783546 0 0 1 0 0 UTR3 UTR3 UTR3 KDM4C(NM_001146696:c.*135G>A,NM_001146695:c.*135G>A) KDM4C(uc010mhu.2:c.*135G>A,uc011lmi.1:c.*135G>A) ENSG00000107077(ENST00000535193:c.*135G>A,ENST00000543771:c.*135G>A) Na Na Na Na Na Na Het;G>A 279;4|9 Het;G>A 252;13|9 Hom;G>A 584;0|17 N N - 9 7174430 7174430 T C snp intronic KDM4C Kdm4c ENSG00000107077 lysine demethylase 4C chr9:6720863-7175648 This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4C https://www.uniprot.org/uniprot/Q9H3R0 https://www.ncbi.nlm.nih.gov/omim/?term=605469 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C rs7029684 0.794129 0 0 1 0 0 intronic intronic intronic KDM4C KDM4C ENSG00000107077 Na Na Na Na Na Na Het;T>C 260;2|7 Ref Hom;T>C 251;0|8 N N - 9 7537978 7537978 T G snp intergenic KDM4C Kdm4c ENSG00000107077 lysine demethylase 4C chr9:6720863-7175648 This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4C https://www.uniprot.org/uniprot/Q9H3R0 https://www.ncbi.nlm.nih.gov/omim/?term=605469 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C rs4742369 0.608826 0 0 1 0 0 intergenic intergenic intergenic KDM4C(dist=362330),TMEM261(dist=258513) KDM4C(dist=362330),C9orf123(dist=258513) ENSG00000230207(dist=59658),ENSG00000178654(dist=59845) Na Na Na Na Na Na Het;T>G 44;2|2 Het;T>G 90;3|5 Hom;T>G 100;0|4 N N - 9 76335224 76335224 C T snp intergenic ANXA1 Anxa1 ENSG00000135046 annexin A1 chr9:75766673-75785309 This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014] Type 2 Diabetes| edema | rosiglitazone; Body Height; Glomerular Filtration Rate; Creatinine; Blood Pressure; Cholesterol, LDL; Lipids; Triglycerides; Body Mass Index; Cholesterol, HDL; Waist Circumference; Glucose; Pancreatic Neoplasms; diabetes, type 2; Heart Failure; Erythrocytes; HIV-1 Mutations in this gene result in increased inflammatory response and decreased macrophage activity. Interleukin-4 and 13 signaling GO:0000733;DNA strand renaturation;IEA|GO:0001780;neutrophil homeostasis;IMP|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002548;monocyte chemotaxis;IDA|GO:0002685;regulation of leukocyte migration;ISS|GO:0006909;phagocytosis;ISS|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;IDA|GO:0008360;regulation of cell shape;IDA|GO:0009725;response to hormone;IEA|GO:0010165;response to X-ray;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014839;myoblast migration involved in skeletal muscle regeneration;IEA|GO:0018149;peptide cross-linking;IDA|GO:0030073;insulin secretion;IEA|GO:0030216;keratinocyte differentiation;IDA|GO:0030850;prostate gland development;IEA|GO:0031018;endocrine pancreas development;IEA|GO:0031340;positive regulation of vesicle fusion;IDA|GO:0031394;positive regulation of prostaglandin biosynthetic process;IEA|GO:0031532;actin cytoskeleton reorganization;IDA|GO:0031960;response to corticosteroid;IEA|GO:0032355;response to estradiol;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0032652;regulation of interleukin-1 production;ISS|GO:0032743;positive regulation of interleukin-2 production;IDA|GO:0033031;positive regulation of neutrophil apoptotic process;IEA|GO:0036292;DNA rewinding;IEA|GO:0042063;gliogenesis;IEA|GO:0042102;positive regulation of T cell proliferation;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043086;negative regulation of catalytic activity;IEA|GO:0043434;response to peptide hormone;IEA|GO:0044849;estrous cycle;IEA|GO:0045087;innate immune response;IEA|GO:0045627;positive regulation of T-helper 1 cell differentiation;IDA|GO:0045629;negative regulation of T-helper 2 cell differentiation;IDA|GO:0045920;negative regulation of exocytosis;IMP|GO:0046632;alpha-beta T cell differentiation;ISS|GO:0046883;regulation of hormone secretion;IMP|GO:0050482;arachidonic acid secretion;IEA|GO:0050709;negative regulation of protein secretion;IEA|GO:0050727;regulation of inflammatory response;ISS|GO:0051384;response to glucocorticoid;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0070459;prolactin secretion;IEA|GO:0070555;response to interleukin-1;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IDA|GO:0071621;granulocyte chemotaxis;IDA|GO:0090303;positive regulation of wound healing;IDA|GO:0097350;neutrophil clearance;IMP|GO:0098609;cell-cell adhesion;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IEA|GO:1900138;negative regulation of phospholipase A2 activity;IEA|GO:2000483;negative regulation of interleukin-8 secretion;IMP GO:0001533;cornified envelope;IDA|GO:0001891;phagocytic cup;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA|GO:0005929;cilium;IEA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031232;extrinsic component of external side of plasma membrane;IDA|GO:0031313;extrinsic component of endosome membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031514;motile cilium;ISS|GO:0031901;early endosome membrane;ISS|GO:0031966;mitochondrial membrane;IEA|GO:0031982;vesicle;IDA|GO:0042383;sarcolemma;IEA|GO:0042629;mast cell granule;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003697;single-stranded DNA binding;IEA|GO:0003727;single-stranded RNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0004859;phospholipase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005198;structural molecule activity;IDA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;TAS|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0019834;phospholipase A2 inhibitor activity;IDA|GO:0030674;protein binding, bridging;IDA|GO:0033676;double-stranded DNA-dependent ATPase activity;IEA|GO:0036310;annealing helicase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANXA1 https://www.uniprot.org/uniprot/P04083 https://www.ncbi.nlm.nih.gov/omim/?term=151690 http://www.informatics.jax.org/searchtool/Search.do?query=ANXA1&submit=Quick%0D%7072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA1 rs11143676 0.397165 0 0 1 0 0 intergenic intergenic intergenic ANXA1(dist=549914),MIR6130(dist=32816) ANXA1(dist=549917),RORB(dist=777028) ENSG00000236701(dist=70469),ENSG00000212454(dist=30664) Na Na Na Na Na Na Het;C>T 61;1|3 Ref Hom;C>T 163;0|5 N N - 9 77550305 77550306 CA C indel ncRNA_exonic AL158825.1 rs34507207 0.453474 0 0 1 0 0 intergenic intergenic ncRNA_exonic TRPM6(dist=47295),C9orf40(dist=11193) TRNA_Asp(dist=32244),C9orf40(dist=11193) ENSG00000224297 Na Na Na Na Na Na Het;-A 509;32|40 Ref Hom;-A 1181;6|64 N N - 9 7799957 7799957 T G snp UTR5 -223A>C TMEM261 Tmem261 ENSG00000137038 distal membrane arm assembly complex 1 chr9:7796490-7888380 Celiac Disease|; Prostatic Neoplasms; Braces; Cholesterol, HDL; Attention Deficit and Disruptive Behavior Disorders; Body Height; Platelet Aggregation; Heart Rate; Respiratory Function Tests GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM261 https://www.uniprot.org/uniprot/Q96GE9 https://www.ncbi.nlm.nih.gov/omim/?term=617261 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM261&submit=Quick%0D%7459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM261 rs16926763 0.733427 0 0 1 0 0 upstream upstream UTR5 TMEM261 C9orf123 ENSG00000137038(ENST00000358227:c.-223A>C) Na Na Na Na Na Na Het;T>G 136;12|6 Het;T>G 148;5|8 Hom;T>G 457;0|19 N N - 9 80923609 80923609 C T snp intronic PSAT1 Psat1 ENSG00000135069 phosphoserine aminotransferase 1 chr9:80912059-80945009 This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013] Inflammation; von Willebrand Factor; Stroke; Waist-Hip Ratio; Exercise Test; Hypertension; Iron; Creatinine Mice homozygous for a knock-out allele exhibit craniofacial defects, exencephaly and growth retardation. Serine biosynthesis GO:0006564;L-serine biosynthetic process;TAS|GO:0008615;pyridoxine biosynthetic process;NAS|GO:0008652;cellular amino acid biosynthetic process;IEA GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004648;O-phospho-L-serine:2-oxoglutarate aminotransferase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSAT1 https://www.uniprot.org/uniprot/Q9Y617 https://hpo.jax.org/app/browse/search?q=PSAT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610936 http://www.informatics.jax.org/searchtool/Search.do?query=PSAT1&submit=Quick%0D%7078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAT1 rs2039323 0.353834 0 0 1 0 0 intronic intronic intronic PSAT1 PSAT1 ENSG00000135069 Na Na Na Na Na Na Het;C>T 251;5|7 Ref Hom;C>T 242;0|6 N N - 9 80923610 80923610 A G snp intronic PSAT1 Psat1 ENSG00000135069 phosphoserine aminotransferase 1 chr9:80912059-80945009 This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013] Inflammation; von Willebrand Factor; Stroke; Waist-Hip Ratio; Exercise Test; Hypertension; Iron; Creatinine Mice homozygous for a knock-out allele exhibit craniofacial defects, exencephaly and growth retardation. Serine biosynthesis GO:0006564;L-serine biosynthetic process;TAS|GO:0008615;pyridoxine biosynthetic process;NAS|GO:0008652;cellular amino acid biosynthetic process;IEA GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004648;O-phospho-L-serine:2-oxoglutarate aminotransferase activity;TAS|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSAT1 https://www.uniprot.org/uniprot/Q9Y617 https://hpo.jax.org/app/browse/search?q=PSAT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610936 http://www.informatics.jax.org/searchtool/Search.do?query=PSAT1&submit=Quick%0D%7078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAT1 rs2039324 0.355431 0 0 1 0 0 intronic intronic intronic PSAT1 PSAT1 ENSG00000135069 Na Na Na Na Na Na Het;A>G 251;5|7 Ref Hom;A>G 242;0|6 N N - 9 8524854 8524854 C T snp intronic PTPRD Ptprd ENSG00000282932 protein tyrosine phosphatase, receptor type D chr9:8314246-10612723 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Hip; Disease; monocyte chemoattractant protein 1 (66-77); Insulin; restless legs syndrome; Type 2 Diabetes| edema | rosiglitazone; Epilepsies, Partial; Forced Expiratory Volume; Arteries; Echocardiography; Leukocyte Count; Erythrocyte Count; Iron; Body Mass Index; Lipids; Stroke; Tunica Media; Asthma; smoking cessation; Breath Tests; type 2 diabetes; Lymphocytes; Asthma|Hypersensitivity; Glioblastoma|Neoplasms; Cholesterol, HDL; Heart Failure; Chronic renal failure|Kidney Failure, Chronic; Vitamin D; Diabetes Mellitus, Type 2; Celiac Disease|; Respiratory Function Tests; obesity|asthma; Maximal Midexpiratory Flow Rate; Diabetes Mellitus; Eosinophils; Neutrophils; Alcoholism; Cholesterol; Body Weight; Coronary Disease; Hematocrit; Lipoproteins, VLDL; Cholesterol, LDL; Glomerular Filtration Rate; Attention deficit hyperactivity disorder and conduct disorder; Body Height; Restless Legs Syndrome; Brain; Atherosclerosis|Thrombosis; Creatinine; Triglycerides; Hemoglobins; Electrocardiography; Lipoproteins Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. Synaptic adhesion-like molecules GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;NAS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016311;dephosphorylation;IEA|GO:0030182;neuron differentiation;ISS|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050775;positive regulation of dendrite morphogenesis;ISS|GO:0097105;presynaptic membrane assembly;ISS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0050839;cell adhesion molecule binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PTPRD https://www.uniprot.org/uniprot/P23468 https://www.ncbi.nlm.nih.gov/omim/?term=601598 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRD&submit=Quick%0D%22649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRD rs2273998 0.138179 0 0 1 0 0 intronic intronic intronic PTPRD PTPRD ENSG00000153707 Na Na Na Na Na Na Het;C>T 730;31|30 Het;C>T 403;29|19 Hom;C>T 1973;0|64 N N - 9 8527273 8527276 TTAA T indel intronic PTPRD Ptprd ENSG00000282932 protein tyrosine phosphatase, receptor type D chr9:8314246-10612723 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Hip; Disease; monocyte chemoattractant protein 1 (66-77); Insulin; restless legs syndrome; Type 2 Diabetes| edema | rosiglitazone; Epilepsies, Partial; Forced Expiratory Volume; Arteries; Echocardiography; Leukocyte Count; Erythrocyte Count; Iron; Body Mass Index; Lipids; Stroke; Tunica Media; Asthma; smoking cessation; Breath Tests; type 2 diabetes; Lymphocytes; Asthma|Hypersensitivity; Glioblastoma|Neoplasms; Cholesterol, HDL; Heart Failure; Chronic renal failure|Kidney Failure, Chronic; Vitamin D; Diabetes Mellitus, Type 2; Celiac Disease|; Respiratory Function Tests; obesity|asthma; Maximal Midexpiratory Flow Rate; Diabetes Mellitus; Eosinophils; Neutrophils; Alcoholism; Cholesterol; Body Weight; Coronary Disease; Hematocrit; Lipoproteins, VLDL; Cholesterol, LDL; Glomerular Filtration Rate; Attention deficit hyperactivity disorder and conduct disorder; Body Height; Restless Legs Syndrome; Brain; Atherosclerosis|Thrombosis; Creatinine; Triglycerides; Hemoglobins; Electrocardiography; Lipoproteins Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. Synaptic adhesion-like molecules GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;NAS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016311;dephosphorylation;IEA|GO:0030182;neuron differentiation;ISS|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050775;positive regulation of dendrite morphogenesis;ISS|GO:0097105;presynaptic membrane assembly;ISS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0050839;cell adhesion molecule binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PTPRD https://www.uniprot.org/uniprot/P23468 https://www.ncbi.nlm.nih.gov/omim/?term=601598 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRD&submit=Quick%0D%22649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRD rs34465399 0.186502 0.1589 0 1 0 0 intronic intronic intronic PTPRD PTPRD ENSG00000153707 Na Na Na Na Na Na Het;-TAA 438;15|13 Het;-TAA 599;13|18 Hom;-TAA 1955;0|46 N N - 9 8528506 8528506 A G snp intronic PTPRD Ptprd ENSG00000282932 protein tyrosine phosphatase, receptor type D chr9:8314246-10612723 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Hip; Disease; monocyte chemoattractant protein 1 (66-77); Insulin; restless legs syndrome; Type 2 Diabetes| edema | rosiglitazone; Epilepsies, Partial; Forced Expiratory Volume; Arteries; Echocardiography; Leukocyte Count; Erythrocyte Count; Iron; Body Mass Index; Lipids; Stroke; Tunica Media; Asthma; smoking cessation; Breath Tests; type 2 diabetes; Lymphocytes; Asthma|Hypersensitivity; Glioblastoma|Neoplasms; Cholesterol, HDL; Heart Failure; Chronic renal failure|Kidney Failure, Chronic; Vitamin D; Diabetes Mellitus, Type 2; Celiac Disease|; Respiratory Function Tests; obesity|asthma; Maximal Midexpiratory Flow Rate; Diabetes Mellitus; Eosinophils; Neutrophils; Alcoholism; Cholesterol; Body Weight; Coronary Disease; Hematocrit; Lipoproteins, VLDL; Cholesterol, LDL; Glomerular Filtration Rate; Attention deficit hyperactivity disorder and conduct disorder; Body Height; Restless Legs Syndrome; Brain; Atherosclerosis|Thrombosis; Creatinine; Triglycerides; Hemoglobins; Electrocardiography; Lipoproteins Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. Synaptic adhesion-like molecules GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;NAS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016311;dephosphorylation;IEA|GO:0030182;neuron differentiation;ISS|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050775;positive regulation of dendrite morphogenesis;ISS|GO:0097105;presynaptic membrane assembly;ISS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0050839;cell adhesion molecule binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PTPRD https://www.uniprot.org/uniprot/P23468 https://www.ncbi.nlm.nih.gov/omim/?term=601598 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRD&submit=Quick%0D%22649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRD rs10758978 0.141174 0 0.1844 1 0 0 intronic intronic intronic PTPRD PTPRD ENSG00000153707 Na Na Na Na Na Na Het;A>G 56;7|3 Het;A>G 343;2|10 Hom;A>G 228;0|7 N N - 9 8528541 8528542 TA T indel intronic PTPRD Ptprd ENSG00000282932 protein tyrosine phosphatase, receptor type D chr9:8314246-10612723 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] Tobacco Use Disorder; Hip; Disease; monocyte chemoattractant protein 1 (66-77); Insulin; restless legs syndrome; Type 2 Diabetes| edema | rosiglitazone; Epilepsies, Partial; Forced Expiratory Volume; Arteries; Echocardiography; Leukocyte Count; Erythrocyte Count; Iron; Body Mass Index; Lipids; Stroke; Tunica Media; Asthma; smoking cessation; Breath Tests; type 2 diabetes; Lymphocytes; Asthma|Hypersensitivity; Glioblastoma|Neoplasms; Cholesterol, HDL; Heart Failure; Chronic renal failure|Kidney Failure, Chronic; Vitamin D; Diabetes Mellitus, Type 2; Celiac Disease|; Respiratory Function Tests; obesity|asthma; Maximal Midexpiratory Flow Rate; Diabetes Mellitus; Eosinophils; Neutrophils; Alcoholism; Cholesterol; Body Weight; Coronary Disease; Hematocrit; Lipoproteins, VLDL; Cholesterol, LDL; Glomerular Filtration Rate; Attention deficit hyperactivity disorder and conduct disorder; Body Height; Restless Legs Syndrome; Brain; Atherosclerosis|Thrombosis; Creatinine; Triglycerides; Hemoglobins; Electrocardiography; Lipoproteins Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. Synaptic adhesion-like molecules GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;NAS|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;ISS|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0016311;dephosphorylation;IEA|GO:0030182;neuron differentiation;ISS|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0050775;positive regulation of dendrite morphogenesis;ISS|GO:0097105;presynaptic membrane assembly;ISS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0050839;cell adhesion molecule binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PTPRD https://www.uniprot.org/uniprot/P23468 https://www.ncbi.nlm.nih.gov/omim/?term=601598 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRD&submit=Quick%0D%22649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRD rs3215749 0 0.2161 0.2946 1 0 0 intronic intronic intronic PTPRD PTPRD ENSG00000153707 Na Na Na Na Na Na Het;-A 158;13|12 Het;-A 348;5|19 Hom;-A 380;0|17 N N - 9 88931992 88931992 A AT indel intronic ZCCHC6 Zcchc6 ENSG00000083223 zinc finger CCHC-type containing 6 chr9:88902648-88969369 Osteoporosis; Body Weight; Cholesterol, HDL Mice homozygous for conditional alleles of Tut4 and Tut7 activated in oocytes exhibit female infertility due to abnormal female meiosis I. Deadenylation of mRNA GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0031123;RNA 3'-end processing;IDA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050265;RNA uridylyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC6 https://www.uniprot.org/uniprot/Q5VYS8 https://www.ncbi.nlm.nih.gov/omim/?term=613467 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC6&submit=Quick%0D%1822ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC6 rs35842173 0.299121 0 0 1 0 0 intronic intronic intronic ZCCHC6 ZCCHC6 ENSG00000083223 Na Na Na Na Na Na Het;+T 51;5|4 Het;+T 90;1|5 Hom;+T 136;0|6 N N - 9 90799781 90799781 C T snp intergenic SPATA31C2 rs4877416 0.295128 0 0 1 0 0 intergenic intergenic intergenic SPATA31C2(dist=49881),SPIN1(dist=203516) SPATA31C2(dist=49881),SPIN1(dist=203059) ENSG00000204429(dist=3419),ENSG00000229288(dist=2869) Na Na Na Na Na Na Het;C>T 63;3|3 Ref Hom;C>T 96;0|4 N N - 9 92018075 92018075 G T snp intronic SEMA4D Sema4d ENSG00000187764 semaphorin 4D chr9:91975702-92113045 Tobacco Use Disorder; Alzheimer's disease Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body. Other semaphorin interactions GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D https://www.ncbi.nlm.nih.gov/omim/?term=601866 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D rs34910857 0.152756 0 0 1 0 0 intronic intronic intronic SEMA4D SEMA4D ENSG00000187764 Na Na Na Na Na Na Het;G>T 167;8|7 Het;G>T 38;2|2 Hom;G>T 96;0|4 N N - 9 94909996 94909996 G A snp ncRNA_exonic LINC00475 rs7044976 0.203674 0 0 1 0 0 ncRNA_intronic ncRNA_intronic ncRNA_exonic LINC00475 LINC00475 ENSG00000225511 Na Na Na Na Na Na Het;G>A 254;13|9 Het;G>A 79;1|3 Hom;G>A 127;0|4 N N - 9 96320705 96320706 AG A indel intronic FAM120A Fam120a ENSG00000048828 family with sequence similarity 120A chr9:96214004-96328397 Tobacco Use Disorder GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAM120A https://www.uniprot.org/uniprot/Q9NZB2 https://www.ncbi.nlm.nih.gov/omim/?term=612265 http://www.informatics.jax.org/searchtool/Search.do?query=FAM120A&submit=Quick%0D%897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM120A rs34457187 0.39357 0 0 1 0 0 intronic intronic intronic FAM120A FAM120A ENSG00000048828 Na Na Na Na Na Na Het;-G 82;4|4 Het;-G 320;1|11 Hom;-G 249;0|8 N N - 9 97330409 97330409 C CAAA indel ncRNA_exonic PCAT7 rs113729163 0 0 0 1 0 0 ncRNA_exonic ncRNA_exonic ncRNA_exonic PCAT7 BC042913,BC080653 ENSG00000231806 Na Na Na Na Na Na Het;+AAA 444;4|15 Het;+AAA 768;7|26 Hom;+AAA 184;0|6